Database of Pathogenic Variants

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ID	Chr	Associated Gene	HGVS	Clinical Significance	Zygosity	Allele Origin	Affected Status	Associated Diseases
DPV:36	11	SLC22A12	NM_144585.4:c.506+1G>A	Pathogenic	compound heterozygote	germline	yes	Hypouricemia renal 1
DPV:379	1	AGL	NM_000028.2:c.2813-2A>C	Likely pathogenic	unknown	germline	yes	Glycogen storage disease 3
DPV:380	1	AGL	NM_000028.2:c.3808A>T	Likely pathogenic	unknown	germline	yes	Glycogen storage disease 3
DPV:381	1	AKT3	NM_005465.4:c.686A>G	Pathogenic	single heterozygote	de novo germline	yes	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
DPV:382	1	AKT3	NM_181690.2:c.487A>T	Likely pathogenic Pathogenic	compound heterozygote unknown	de novo germline	yes	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
DPV:383	1	ASPM	NM_018136.4:c.10168C>T	Likely pathogenic Pathogenic	homozygote unknown	biparental germline	yes	Microcephaly 1, primary, autosomal recessive Microcephaly 5, primary, autosomal recessive
DPV:384	1	CDC42	NM_001039802.1:c.191A>G	Pathogenic	single heterozygote	de novo	yes	Takenouchi-Kosaki syndrome
DPV:385	1	COL11A1	NM_001854.3:c.3168+5G>A	Pathogenic	single heterozygote	de novo	yes	Stickler syndrome 1
DPV:387	1	GJB3	NM_001005752:c.250G>A	Pathogenic	unknown	unknown	unknown	Partial deafness
DPV:388	1	GJB3	NM_001005752:c.580G>A	Pathogenic	unknown	germline	no	Partial deafness

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