"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 322966	NM_001004334.4(GPR179):c.6824T>C (p.Leu2275Pro)	GPR179 (L2275P)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +1 more	GBenign
Select item 522290	NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GBenign/Likely benign
Select item 322975	NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)	GPR179 (G1992D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283185	NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=)	GPR179	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 322986	NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)	GPR179 (R1436W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522293	NM_001004334.4(GPR179):c.3441C>T (p.Ser1147=)	GPR179	Single nucleotide variant (synonymous variant)	GPR179-related condition +2 more	GBenign/Likely benign
Select item 323014	NM_001004334.4(GPR179):c.2022C>T (p.Asp674=)	GPR179	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1284365	NM_001004334.4(GPR179):c.1839C>T (p.Phe613=)	GPR179	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891149	NM_001004334.4(GPR179):c.1133C>T (p.Ala378Val)	GPR179 (A378V)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1E +2 more	GConflicting classifications of pathogenicity
Select item 323027	NM_001004334.4(GPR179):c.973G>A (p.Gly325Arg)	GPR179 (G325R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 522294	NM_001004334.4(GPR179):c.795-4G>A	GPR179	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 323034	NM_001004334.4(GPR179):c.657A>T (p.Gly219=)	GPR179	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1E +1 more	GBenign/Likely benign