ClinVar for MedGen (Select 1754121) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12682321.	NM_001922.5(DCT):c.1407G>A (p.Trp469Ter) GRCh37: Chr13:95092305 GRCh38: Chr13:94440051	DCT	W469, W158, W406, W502	Oculocutaneous albinism type 8	Pathogenic (Sep 17, 2021)	no assertion criteria provided
Select item 12682312.	NM_001922.5(DCT):c.876C>A (p.Tyr292Ter) GRCh37: Chr13:95114431 GRCh38: Chr13:94462177	DCT	Y292, Y229	Oculocutaneous albinism type 8	Pathogenic (Sep 16, 2021)	no assertion criteria provided
Select item 12682303.	NM_001922.5(DCT):c.176G>T (p.Gly59Val) GRCh37: Chr13:95131334 GRCh38: Chr13:94479080	DCT	G59V	Oculocutaneous albinism type 8	Pathogenic (Sep 16, 2021)	no assertion criteria provided
Select item 9301824.	NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) GRCh37: Chr13:95095751-95095764 GRCh38: Chr13:94443497-94443510	DCT		Oculocutaneous albinism type 8, Albinism	Pathogenic/Likely pathogenic (Apr 20, 2021)	no assertion criteria provided
Select item 9298645.	NM_001922.5(DCT):c.183C>G (p.Cys61Trp) GRCh37: Chr13:95131327 GRCh38: Chr13:94479073	DCT	C61W	Oculocutaneous albinism type 8, Albinism	Pathogenic/Likely pathogenic (Apr 20, 2021)	no assertion criteria provided
Select item 9298636.	NM_001922.5(DCT):c.118T>A (p.Cys40Ser) GRCh37: Chr13:95131392 GRCh38: Chr13:94479138	DCT	C40S	Oculocutaneous albinism type 8, Albinism	Pathogenic/Likely pathogenic (Apr 20, 2021)	no assertion criteria provided

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