Genomics England

Intellectual disability (Version: )

Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing, Intellectual disability - microarray and sequencing, R29

Signed off date: 4 Oct 2024

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off

See this panel in PanelApp

1495 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AAAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	AASS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	ABCD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD16A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABHD5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACACA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADS	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ACBD6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	ACSL4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	ACTB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ACTL6A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ACTL6B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAM22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADARB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADD1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ADD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADGRL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADNP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ADSL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AFF2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Other	nucleotide-repeat-expansion
Green	AFF3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	AFF4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	AGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGO1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AGO2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AGTPBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHCY	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	AHDC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	AHI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AKT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	ALDH18A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH4A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH5A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH7A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG13	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ALG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALKBH8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALMS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMER1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AMPD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANK2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANK3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ANKRD11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANKRD17	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ANO4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	AP1G1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	AP1S1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AP2M1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	AP3B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP3B2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4E1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4M1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP4S1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ARCN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARF3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	ARFGEF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARFGEF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARHGEF9	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ARID1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARID2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARL13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARL6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARMC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARSE	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	ARV1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ARX	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	nucleotide-repeat-expansion
Green	ASAH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASH1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ASXL2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ASXL3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	ATAD3A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ATG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATIC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ATP13A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP1A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP1A3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP2B1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6AP2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP6V0A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V0A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP6V0C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP6V1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ATP6V1B2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ATP7A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ATP8A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATP9A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ATRX	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	AUH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUTS2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	B3GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GLCT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GALT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B9D2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BAZ2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	BBS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BBS9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCAS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCKDK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCL11A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BCL11B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BCOR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BICRA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BLM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	BMP4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BOLA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BPTF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BRAT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BRPF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRSK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	BRWD3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BSCL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BUB1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf4	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C12orf57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf65	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C2CD3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2orf69	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	C5orf42	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CA8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1D	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CACNA1E	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CACNA1G	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CACNA1I	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CACNA2D1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMK2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi
Green	CAMK2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAMK2D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CAMK4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	CAMSAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAMTA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAPN15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CAPRIN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	CASK	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CASP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CBL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CBS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CC2D2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC22	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CCDC32	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC47	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC82	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CCDC88C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCND2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC42	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	CDK16	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	CDK19	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDK5RAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CDKL5	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CDON	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CELF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	CENPF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CENPJ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP104	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP120	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP135	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP152	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP290	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP55	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP83	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CEP85L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CHAMP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CHD5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHMP1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CIC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CIT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CKAP2L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN3	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	CLCN4	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	CLCN6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLDN11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CLDN5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CLEC16A	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CLN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLP1	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	CLPB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CLTC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNKSR2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CNNM2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CNOT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CNTNAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COASY	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COL4A3BP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	COLEC11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COPB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COQ4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPLX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRADD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CREBBP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSDE1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSNK1G1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	CSNK2A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CSNK2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CSPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSTB	BIALLELIC, autosomal or pseudoautosomal	Other	nucleotide-repeat-expansion
Green	CTBP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	CTCF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTDP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTNNB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CTNND1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTR9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CTSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTU2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CUL3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUL4B	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	CUX1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CUX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CWC27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CWF19L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CXorf56	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation, new-gene-name, gene-checked
Green	CYB5R3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYFIP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	D2HGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAGLA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	DARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DBT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCAF17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCHS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DCX	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	DDB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DDC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDHD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX23	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DDX3X	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	loss-of-function (truncating variants and curated list of variants)	N/A
Green	DDX59	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDX6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DEAF1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DENND5B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	DEPDC5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHCR24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHDDS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DHFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHTKD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX30	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DHX37	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DHX9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DIAPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DIS3L2	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic, deletions
Green	DKC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DLG3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	DLG4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microduplication
Green	DLL1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DMD	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMPK_CTG STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMXL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNM1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM1L	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DNMT3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	DNMT3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	DOCK6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOCK7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOHH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	dominant-negative
Green	DPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPH5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYD	BIALLELIC, autosomal or pseudoautosomal	N/A	pharmacogenetics
Green	DPYS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYSL5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DTYMK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYRK1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EBF3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	EBP	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	EDEM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EED	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EEF1A2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EFTUD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EHMT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EIF2AK2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	EIF2AK3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2S3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	EIF3F	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EIF4A3	BIALLELIC, autosomal or pseudoautosomal	N/A	nucleotide-repeat-expansion
Green	EIF5A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ELAC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELOVL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ELP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMC1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	EMC10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EML1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ENTPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EP300	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EPG5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERBB4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ERCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC6L2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERCC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ERLIN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESAM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ESCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETHE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXTL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EZH1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	gene-checked
Green	EZH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FAM126A	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FAM177A1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	FAM20C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM50A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FAR1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	FARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAT4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBRSL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FBXL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBXO11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO28	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXO31	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	FBXW11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FBXW7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FEM1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	FGD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FGF12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	FH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FILIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FMR1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	nucleotide-repeat-expansion
Green	FMR1_CGG STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	FOLR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOXG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXP2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FOXRED1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FRMD5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FRMPD4	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FTCD	BIALLELIC, autosomal or pseudoautosomal	N/A	ngs-false-positive-region
Green	FTSJ1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	FUCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUT8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GABBR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRA2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	GABRA5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GABRB3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GABRD	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GABRG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GAD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GALT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GATAD2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GATM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GCH1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GCSH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GDI1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GEMIN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GFER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GJC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GK	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GLB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLDC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLI2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLIS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRA2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Autism Spectrum Disorder
Green	GLUL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLYCTK	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	GM2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAI1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAO1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism
Green	GNB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GNB5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNPTG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPAA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GPC3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GPC4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	GPT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	watchlist_moi
Green	GRIA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIA3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GRIA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRID2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRIK2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GRIN2A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRIN2D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GRM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GRM7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2E2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF2H5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTF3C5	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	GTPBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GTPBP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GUSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	H3F3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	H3F3B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	new-gene-name
Green	HACE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HCCS	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HCFC1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HCN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HDAC8	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HECTD4	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HECW2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	HEPACAM	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	HERC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HERC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HESX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEXB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HGSNAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIBCH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HID1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIST1H1E	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	HIST1H4C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIST1H4E	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	new-gene-name
Green	HIVEP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HK1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	missense
Green	HLCS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	HMGCL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPH2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HNRNPK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HNRNPU	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HOXA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HPD	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HPDL	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	HPRT1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	HRAS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSD17B10	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	HSD17B4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HTRA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HUWE1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	IBA57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IDH2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IDS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IER3IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IFT172	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IGF1R	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IKBKG	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IL1RAPL1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IMPDH2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	INPP5E	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INPP5K	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	INTS11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IQSEC2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IRF2BPL	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37390-Loss 5p15 terminal (Cri du chat syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Gain 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37392-Loss 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37393-Gain 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37394-Loss 2q37.3 terminal region (includes HDAC4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37396-Loss 15q24 recurrent region (A-D) (includes SIN3A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Gain 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37397-Loss 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Gain 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37400-Loss 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37401-Loss 11p13 (WAGR syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Gain 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37404-Loss 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37405-Loss 2q13 recurrent region (includes NPHP1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37406-Loss 16p13.3 region (includes CREBBP) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37411-Loss 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Gain 16p13.11 recurrent region (includes MYH11) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37415-Loss 16p13.11 recurrent region (includes MYH11) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Gain 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37418-Loss 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Gain 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37421-Loss 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Gain 8p23.1 recurrent region (includes GATA4) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37423-Loss 8p23.1 recurrent region (includes GATA4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37424-Loss 10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Gain 5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37425-Loss 5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Gain 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37430-Loss 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Gain 17q11.2 recurrent region (includes NF1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37431-Loss 17q11.2 recurrent region (includes NF1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Gain 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37432-Loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Gain 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37433-Loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37434-Loss 1p36 terminal region (includes GABRD) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37439-Gain Xq28 recurrent region (includes GDI1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37440-Loss 2p21 region (includes PREPL and SLC3A1) Loss region	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37441-Loss 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37443-Loss 3q29 recurrent region (includes DLG1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Gain 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37446-Loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37468-Loss Xp11.23 region (includes MAOA and MAOB) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37478-Gain 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37486-Loss 16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37493-Loss 1q43q44 terminal region (includes AKT3) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37494-Gain Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37494-Loss Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-37495-Loss 2q11.2 recurrent region (includes ARID5A, TMEM127) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37500-Loss 15q25.2 recurrent region (LCR B-C, proximal) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37501-Loss 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46290-Gain Xp11.22p11.23 recurrent region (includes SHROOM4) Gain region	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ISCA-46292-Loss 22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46295-Loss 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46297-Loss 16p12.2 recurrent region (distal)(includes OTOA) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46299-Gain Xp11.22 region (includes HUWE1) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46304-Gain Xq28 region (includes MECP2) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46553-Loss 3q24 Region (includes ZIC1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46742-Loss 7p22.1 region (includes ACTB) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46743-Gain Xq25 region (includes STAG2) Gain region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISCA-46743-Loss Xq25 region (includes STAG2) Loss region	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ISPD	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ITPR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ITSN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	IVD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JARID2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KANSL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KAT5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KAT6A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT6B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	KCNA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNA3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KCNB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KCNC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCND2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	gene-checked
Green	KCNH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNH5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNJ10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ11	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNJ6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNK3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNK9	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Other	N/A
Green	KCNMA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KCNN2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNN3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCNQ2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNQ3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNQ5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KCNT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KCNT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	KCTD3	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	KCTD7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KDM1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KDM3B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KDM4B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KDM5A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM5B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	KDM5C	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	KDM6B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIAA0586	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1109	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIDINS220	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIF1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF1BP	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	KIF21B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KIF2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF4A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	KIF5A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KIF5C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KIF7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIRREL3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KLF7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	KLHL20	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	KLHL7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KMT2A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT2C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2E	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	KMT5B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KNL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KPTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KRAS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	L1CAM	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	L2HGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LARGE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARP7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	LETM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LGI3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	LIAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LINGO4	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	LINS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMBRD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	LMNB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LONP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRPPRC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LSS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LYRM7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LZTR1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAB21L2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MACF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MADD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAGEL2	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	MAN1B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2C1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MANBA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAOA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MAP1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAP2K2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MAPK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MAPK8IP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAPRE2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	N/A
Green	MASP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAST1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MAST3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MAST4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	MAT1A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MBD5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MBOAT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MBTPS2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MCCC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCCC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCM3AP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCPH1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MDH2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECP2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MED11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED12	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	MED13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MED13L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MED17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MED25	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	MED27	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEF2C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEIS2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	METTL23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	METTL5	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	MFF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MGAT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MID1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	MINPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKKS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MKS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLYCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMACHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MMADHC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MOCS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOCS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MOGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MORC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	MPDU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPLKIP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MPP5	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked, new-gene-name
Green	MRPS22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MRPS34	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSL3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MSMO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTFMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTOR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, missense, somatic
Green	MTR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTRR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTSS1L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	MUT	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	MVK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYCN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	MYO5A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYT1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NAA10	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NAA15	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NACC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	NAGA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAGLU	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NALCN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NANS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAPB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NARS	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	new-gene-name
Green	NBEA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NCDN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NCKAP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	NDE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDP	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDST1	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	NDUFA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NDUFA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEDD4L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEMF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEUROD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NEUROG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEXMIF	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFASC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFIA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	NFIX	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NFU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NGLY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NHS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NIPBL	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKAP	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	missense
Green	NKX2-1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NLGN3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NONO	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	NOVA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NPC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NPHP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NR2F1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NR2F2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NR4A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Autism Spectrum Disorder
Green	NRAS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NRCAM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRROS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NRXN1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	NSD1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NSDHL	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	NSRP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NSUN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NT5C2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTNG2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	NTRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NTRK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NUBPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUDT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP214	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUS1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	OCLN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCRL	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ODC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OFD1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OGDHL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OGT	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	OPA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OPHN1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OSGEP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTC	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial
Green	OTUD5	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	OTUD6B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTUD7A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OTX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OXR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	P4HTM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PABPC1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	gene-checked
Green	PACS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PACS2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAFAH1B1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PAH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	PAK3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PAN2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PARN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAX8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PBX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCCB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCDH12	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	PCDH19	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	mosaicism, x-linked-over-dominance, somatic
Green	PCDHGC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCGF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PCNT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PCYT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDE4D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	PDGFRB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PDHA1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDHX	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	PDSS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDSS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PDZD8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEPD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PET100	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAP3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM2L1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHACTR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PHF21A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	deletions
Green	PHF6	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	PHF8	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHIP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PI4KA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIBF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIDD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGA	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Skewed X-inactivation
Green	PIGB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGH	BIALLELIC, autosomal or pseudoautosomal	N/A	Autism Spectrum Disorder
Green	PIGK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGO	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGQ	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGU	BIALLELIC, autosomal or pseudoautosomal	N/A	missense
Green	PIGV	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIGW	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	mosaicism, somatic
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PIP5K1C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PITRM1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PLA2G6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLAA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLK1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PLK4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PLPBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLXNA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLXNB2	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PMM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PMPCB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNKP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPLA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PNPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POGZ	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POLA1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR2A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	POLR3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLRMT	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PORCN	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	POU3F2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	POU3F3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPFIBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPM1D	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP1CB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP1R12A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP1R15B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPP1R21	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	PPP1R3F	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-checked
Green	PPP2CA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PPP2R1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP2R5D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPP3CA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PQBP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRDM13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRICKLE2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	PRKAR1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRMT7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRPF8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRPS1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PRR12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PRSS12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRUNE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSMC3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PSMD12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSPH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTCHD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PTDSS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTF1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTPN4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	PTRHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUF60	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	PUM1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PURA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PUS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PUS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	QDPR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	QRICH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB11A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	RAB11B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAB18	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB39B	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RAB3GAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB3GAP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB5C	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RAC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAC3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RAD21	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAI1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RALA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RALGAPA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAP1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RARB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	RARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBBP8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBL2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBM10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RBSN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RELN	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RERE	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RFT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RFX3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	RFX7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RHOBTB2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RIT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RLIM	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	missense
Green	RMND1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNF113A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	RNF125	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RNF13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	RNU4-2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked, locus-type-rna-small-nuclear
Green	RNU7-1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, locus-type-rna-small-nuclear
Green	ROBO1	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	ROGDI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RORA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RPGRIP1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPIA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RPL10	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	RPS6KA3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	RRM2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSRC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTEL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTTN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMD9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense
Green	SAMHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SATB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SATB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SBF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SC5D	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCAF4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCAMP5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	gene-checked
Green	SCAPER	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN2A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN3A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SCN8A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCYL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDCCAG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SEMA6B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SEPHS1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	SEPSECS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SERAC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SET	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETBP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SETD1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SETD2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SETD5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SFXN4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGPL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGSH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHANK1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SHANK2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHANK3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHH	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHMT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SHOC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHQ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIAH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIK1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SIL1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIN3A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIN3B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SIX3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC12A2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC12A6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC13A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC17A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC19A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC1A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC1A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A22	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC2A1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SLC30A9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC32A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC33A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC35A2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLC35C1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC38A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC39A8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC46A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC4A4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SLC6A17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC6A8	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SLC6A9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC9A6	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SLX4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMAD4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCA2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCA5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	SMARCB1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMARCC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCD1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMARCE1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMC1A	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	SMC3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMG8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMOC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMPD4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SNAP25	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SNAP29	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNF8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNIP1	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	SNORD118	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-small-nucleolar
Green	SNRPB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SNX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNX27	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SON	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOS1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOS2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SOX5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SOX6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPART	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPATA5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	SPATA5L1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	SPECC1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPEN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPOP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	SPR	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPRED1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPRED2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTAN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPTBN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPTBN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPTBN4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRCAP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRD5A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SRRM2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SRSF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SSR4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ST3GAL3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ST3GAL5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STAG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	microdeletion
Green	STAG2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	STAMBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRA6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STRADA	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	STT3A	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	STX1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	STX1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STXBP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLG1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUFU	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUOX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUPT16H	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SURF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUZ12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SVBP	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	SYN1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYNCRIP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	SYNGAP1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYNJ1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYP	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	SYT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	SZT2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TAF2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TAF6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAF8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TANGO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAOK1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TASP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TAZ	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	new-gene-name
Green	TBC1D20	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBC1D2B	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TBCD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBCK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBL1XR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TBR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCEAL1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	TCF20	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	de novo
Green	TCF4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCF7L2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCTN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TDP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TECPR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TEFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TELO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TENM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TET3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TFE3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Skewed X-inactivation
Green	TGIF1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THOC2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	THOC6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	THRA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	THUMPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIAM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIMM50	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TLK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM106B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TMEM147	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM165	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM216	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM222	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM237	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM240	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMEM5	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TMEM63B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TMEM63C	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMEM67	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM70	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM94	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TMTC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TNPO2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNRC6B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TOR1A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TP73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRA2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TRAF7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRAIP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC6B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC9	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM8	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIO	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TRIP12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TRIT1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TRMT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRMT10A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPM3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	missense
Green	TRRAP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TSC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TSEN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN34	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSEN54	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSPAN7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	TSPOAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTC37	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TTC5	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	TTC8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTI1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTI2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUBA1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBB4A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TUBG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBGCP6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TUSC3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWIST1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	U2AF2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	UBA5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBAP2L	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	UBE2A	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UBE3A	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	UBE3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBE4A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBTF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	UFM1	BIALLELIC, autosomal or pseudoautosomal	N/A	de novo
Green	UFSP2	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	UGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UGP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UMPS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UNC80	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UPF3B	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	UROC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	USP9X	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	VAMP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	VARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	VARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VCP	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VLDLR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS13B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS41	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VPS4A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	VPS53	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	VRK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WAC	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WASF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	WDFY3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDPCP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR26	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDR37	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	missense, gene-checked
Green	WDR4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR45	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	WDR45B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked
Green	WDR62	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR73	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WDR81	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WIPI2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WNK3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	WNT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WWOX	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XRCC4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XYLT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YIF1B	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	YIPF5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	YWHAG	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	YY1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB18	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZBTB20	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZBTB24	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZBTB47	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ZBTB7A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZC4H2	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZDHHC9	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZEB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZFHX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFHX4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZFX	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZFYVE26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZIC1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	ZIC2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZMIZ1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYM2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZMYM3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ZMYND11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZMYND8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	ZNF142	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF292	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF335	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF462	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZNF526	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF699	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZNF711	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ZNFX1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	ZSWIM6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	mosaicism, curated-variant-list

Intellectual disability (Version: 7.517.06.05.04.03.2)

Intellectual disability (Version: )