ClinVar for MedGen (Select 1754121) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688920	NM_001922.5(DCT):c.100A>C (p.Ser34Arg)	DCT (S34R)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8	GUncertain significance
Select item 1268232	NM_001922.5(DCT):c.1407G>A (p.Trp469Ter)	DCT (W469* +3 more)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 8	GPathogenic
Select item 1268231	NM_001922.5(DCT):c.876C>A (p.Tyr292Ter)	DCT (Y292* +1 more)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 8	GPathogenic
Select item 1268230	NM_001922.5(DCT):c.176G>T (p.Gly59Val)	DCT (G59V)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8	GPathogenic
Select item 930182	NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer)	DCT	Deletion (nonsense)	Oculocutaneous albinism type 8 +1 more	GPathogenic/Likely pathogenic
Select item 929864	NM_001922.5(DCT):c.183C>G (p.Cys61Trp)	DCT (C61W)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8 +1 more	GPathogenic/Likely pathogenic
Select item 929863	NM_001922.5(DCT):c.118T>A (p.Cys40Ser)	DCT (C40S)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 8 +1 more	GPathogenic/Likely pathogenic

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