"OMIM"[submitter] AND "GPR179"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31200	NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)	GPR179 (H603Y)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E	GPathogenic
Select item 31203	NM_001004334.4(GPR179):c.1784+1G>A	GPR179	Single nucleotide variant (splice donor variant)	Congenital stationary night blindness 1E	GPathogenic
Select item 31204	NM_001004334.4(GPR179):c.984del (p.Ser329fs)	GPR179 (S329fs)	Deletion (frameshift variant)	Congenital stationary night blindness +3 more	GConflicting classifications of pathogenicity
Select item 31206	NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)	GPR179 (Y220C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 31202	NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)	GPR179 (R200*)	Single nucleotide variant (nonsense)	Congenital stationary night blindness 1E	GPathogenic
Select item 31201	NM_001004334.4(GPR179):c.278del (p.Pro93fs)	GPR179 (P93fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 31205	NM_001004334.4(GPR179):c.187del (p.Leu63fs)	GPR179 (L63fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1E	GPathogenic

ClinVar