"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126862088" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315502	NM_001252024.2(TRPM1):c.3624T>C (p.Ser1208=)	LOC126862088, TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +2 more	GConflicting classifications of pathogenicity
Select item 631726	NM_001252024.2(TRPM1):c.3590del (p.Gln1197fs)	LOC126862088, TRPM1 (Q1175fs +2 more)	Deletion (frameshift variant)	Congenital stationary night blindness 1C	GUncertain significance
Select item 884302	NM_001252024.2(TRPM1):c.3563A>T (p.His1188Leu)	LOC126862088, TRPM1 (H1188L +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +1 more	GConflicting classifications of pathogenicity
Select item 167747	NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His)	LOC126862088, TRPM1 (Q1161H +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +2 more	GLikely benign
Select item 886328	NM_001252024.2(TRPM1):c.3533A>G (p.His1178Arg)	LOC126862088, TRPM1 (H1156R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886329	NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=)	LOC126862088, TRPM1	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness 1C +1 more	GBenign

ClinVar