ClinVar for MedGen (Select 811705) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027497	NM_205850.3(SLC24A5):c.301+1G>T	SLC24A5	Single nucleotide variant (splice donor variant)	Oculocutaneous albinism type 6	GLikely pathogenic
Select item 2431038	NM_205850.3(SLC24A5):c.494C>G (p.Ser165Ter)	MYEF2, SLC24A5 (S165*)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 6	GPathogenic
Select item 440484	NM_205850.3(SLC24A5):c.521G>A (p.Arg174Lys)	MYEF2, SLC24A5 (R174K)	Single nucleotide variant (missense variant +1 more)	Oculocutaneous albinism type 6	GPathogenic
Select item 440483	NM_205850.3(SLC24A5):c.641del (p.Leu214fs)	MYEF2, SLC24A5 (L214fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 436742	NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter)	MYEF2, SLC24A5 (C176*)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 6	GPathogenic
Select item 60560	NM_205850.3(SLC24A5):c.1361dup (p.Leu454fs)	MYEF2, SLC24A5 (L454fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 60559	NM_205850.3(SLC24A5):c.591G>A (p.Trp197Ter)	MYEF2, SLC24A5 (W197*)	Single nucleotide variant (nonsense +1 more)	Oculocutaneous albinism type 6	GPathogenic

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