"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 436741	NM_205850.3(SLC24A5):c.253_255del (p.Ile85del)	SLC24A5 (I85del)	Deletion (inframe_deletion)	not specified	GUncertain significance
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 1336364	NM_205850.3(SLC24A5):c.1025C>T (p.Ala342Val)	MYEF2, SLC24A5 (A342V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1336310	NM_205850.3(SLC24A5):c.1500T>C (p.Gly500=)	MYEF2, SLC24A5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign

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