"Blueprint Genetics"[submitter] AND "TRPM1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866089	NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp)	TRPM1 (R1080W +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 866007	NM_001252024.2(TRPM1):c.3089G>C (p.Trp1030Ser)	TRPM1 (W1008S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 6228	NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His)	TRPM1 (P611H +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866572	NM_001252024.2(TRPM1):c.580G>T (p.Gly194Cys)	TRPM1 (G211C +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 866281	NM_001252024.2(TRPM1):c.494-1G>C	TRPM1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866798	NM_001252024.2(TRPM1):c.415_422delinsC (p.Lys139fs)	TRPM1 (K156fs +2 more)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 6227	NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro)	TRPM1 (L99P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar