"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 438219	NM_001252024.2(TRPM1):c.3214dup (p.Trp1072fs)	TRPM1 (W1050fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 438218	NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu)	TRPM1 (D1036E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438217	NM_001252024.2(TRPM1):c.3155G>A (p.Cys1052Tyr)	TRPM1 (C1030Y +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 290045	NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe)	TRPM1 (I1002F +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 438222	NM_001252024.2(TRPM1):c.832G>A (p.Gly278Arg)	TRPM1 (G256R +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic
Select item 438221	NM_001252024.2(TRPM1):c.618+3_618+6del	TRPM1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 438220	NM_001252024.2(TRPM1):c.380G>A (p.Gly127Glu)	TRPM1 (G105E +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness	GLikely pathogenic

ClinVar