Related gene-specific medical variations for Gene (Select 9187) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359131	NM_004727.3(SLC24A1):c.642dup (p.Thr215fs)	SLC24A1 (T215fs)	Duplication (frameshift variant)	Congenital stationary night blindness autosomal dominant 2	GPathogenic
Select item 1319075	NM_004727.3(SLC24A1):c.2948C>G (p.Ser983Ter)	SLC24A1 (S310* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 865860	NM_004727.3(SLC24A1):c.680del (p.Ala227fs)	SLC24A1 (A227fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic

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