ClinVar for MedGen (Select 1779589) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870335	NM_003043.6(SLC6A6):c.233C>A (p.Ala78Glu)	SLC6A6 (A78E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal degeneration	GLikely pathogenic
Select item 870334	NM_003043.6(SLC6A6):c.1196G>T (p.Gly399Val)	SLC6A6 (G500V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal degeneration	GLikely pathogenic