Related gene-specific medical variations for Gene (Select 51151) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246526	NC_000005.9:g.(?_33944753)_(33964141_?)del	SLC45A2	Deletion	not provided	GPathogenic
Select item 3246525	NC_000005.9:g.(?_33982321)_(33985180_?)del	SLC45A2	Deletion	not provided	GPathogenic
Select item 3246524	NC_000005.9:g.(?_33982321)_(33982537_?)del	SLC45A2	Deletion	not provided	GPathogenic
Select item 3246523	NC_000005.9:g.(?_33984284)_(33986409_?)del	SLC45A2	Deletion	not provided	GPathogenic
Select item 3246522	NC_000005.9:g.(?_33944753)_(33985180_?)del	SLC45A2	Deletion	not provided	GPathogenic
Select item 3062089	NM_016180.5(SLC45A2):c.1266C>G (p.Tyr422Ter)	SLC45A2 (Y422*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 4	GPathogenic
Select item 1334439	NM_016180.5(SLC45A2):c.208T>C (p.Tyr70His)	SLC45A2 (Y70H)	Single nucleotide variant (missense variant)	Oculocutaneous albinism type 4	Gnot provided

ClinVar