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

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2259654	NM_001252024.2(TRPM1):c.4735C>T (p.Pro1579Ser)	TRPM1 (P1596S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471127	NM_001252024.2(TRPM1):c.4624C>T (p.Arg1542Cys)	TRPM1 (R1559C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1056283	NM_001252024.2(TRPM1):c.4600G>A (p.Ala1534Thr)	TRPM1 (A1512T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1051226	NM_001252024.2(TRPM1):c.4478A>G (p.Gln1493Arg)	TRPM1 (Q1471R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481938	NM_001252024.2(TRPM1):c.4471G>C (p.Glu1491Gln)	TRPM1 (E1491Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 953304	NM_001252024.2(TRPM1):c.4451C>T (p.Thr1484Met)	TRPM1 (T1462M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 937605	NM_001252024.2(TRPM1):c.4331G>T (p.Arg1444Leu)	TRPM1 (R1422L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2550361	NM_001252024.2(TRPM1):c.4321A>G (p.Lys1441Glu)	TRPM1 (K1419E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1026461	NM_001252024.2(TRPM1):c.4304A>G (p.Tyr1435Cys)	TRPM1 (Y1413C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2476894	NM_001252024.2(TRPM1):c.4181A>G (p.Lys1394Arg)	TRPM1 (K1372R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1023662	NM_001252024.2(TRPM1):c.4130G>A (p.Gly1377Asp)	TRPM1 (G1355D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1414960	NM_001252024.2(TRPM1):c.4111G>A (p.Ala1371Thr)	TRPM1 (A1349T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1056600	NM_001252024.2(TRPM1):c.3953G>A (p.Gly1318Glu)	TRPM1 (G1296E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1136050	NM_001252024.2(TRPM1):c.3900C>T (p.Asn1300=)	TRPM1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 933751	NM_001252024.2(TRPM1):c.3845G>A (p.Arg1282Gln)	TRPM1 (R1260Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 964131	NM_001252024.2(TRPM1):c.3833C>T (p.Thr1278Met)	TRPM1 (T1278M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1433887	NM_001252024.2(TRPM1):c.3770C>T (p.Ala1257Val)	TRPM1 (A1235V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2608155	NM_001252024.2(TRPM1):c.3715C>G (p.Leu1239Val)	TRPM1 (L1217V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529887	NM_001252024.2(TRPM1):c.3656A>C (p.Glu1219Ala)	TRPM1 (E1197A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 998531	NM_001252024.2(TRPM1):c.3567C>G (p.Phe1189Leu)	LOC126862088, TRPM1 (F1167L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 438667	NM_001252024.2(TRPM1):c.3410G>T (p.Ser1137Ile)	LOC126862088, TRPM1 (S1115I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1467053	NM_001252024.2(TRPM1):c.3395C>G (p.Pro1132Arg)	LOC126862088, TRPM1 (P1132R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2318143	NM_001252024.2(TRPM1):c.3370C>A (p.His1124Asn)	LOC126862088, TRPM1 (H1124N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304130	NM_001252024.2(TRPM1):c.3304T>A (p.Phe1102Ile)	TRPM1 (F1080I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1435835	NM_001252024.2(TRPM1):c.3232A>G (p.Met1078Val)	TRPM1 (M1056V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2405876	NM_001252024.2(TRPM1):c.3188G>A (p.Arg1063Gln)	TRPM1 (R1063Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 866089	NM_001252024.2(TRPM1):c.3187C>T (p.Arg1063Trp)	TRPM1 (R1080W +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2492272	NM_001252024.2(TRPM1):c.3016C>T (p.Arg1006Cys)	TRPM1 (R1006C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2623127	NM_001252024.2(TRPM1):c.2837T>C (p.Met946Thr)	TRPM1 (M963T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530808	NM_001252024.2(TRPM1):c.2836A>G (p.Met946Val)	TRPM1 (M924V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1020077	NM_001252024.2(TRPM1):c.2815C>T (p.Arg939Cys)	TRPM1 (R917C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1054380	NM_001252024.2(TRPM1):c.2677C>G (p.Leu893Val)	TRPM1 (L871V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2337360	NM_001252024.2(TRPM1):c.2671G>T (p.Val891Leu)	TRPM1 (V869L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 999222	NM_001252024.2(TRPM1):c.2515G>A (p.Gly839Arg)	TRPM1 (G817R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2551151	NM_001252024.2(TRPM1):c.2501G>T (p.Arg834Ile)	TRPM1 (R851I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 194944	NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys)	TRPM1 (E807K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2608712	NM_001252024.2(TRPM1):c.2324T>C (p.Met775Thr)	TRPM1 (M753T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 315514	NM_001252024.2(TRPM1):c.2308G>A (p.Gly770Ser)	TRPM1 (G748S +2 more)	Single nucleotide variant (missense variant)	Congenital stationary night blindness 1C +2 more	GUncertain significance
Select item 850044	NM_001252024.2(TRPM1):c.2297G>A (p.Arg766Gln)	TRPM1 (R766Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2270349	NM_001252024.2(TRPM1):c.1841A>T (p.Lys614Met)	TRPM1 (K614M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1513108	NM_001252024.2(TRPM1):c.1816G>A (p.Gly606Arg)	TRPM1 (G606R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1025884	NM_001252024.2(TRPM1):c.1807C>G (p.Pro603Ala)	TRPM1 (P581A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1045967	NM_001252024.2(TRPM1):c.1717C>T (p.Arg573Trp)	TRPM1 (R551W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2360744	NM_001252024.2(TRPM1):c.1631T>C (p.Leu544Pro)	TRPM1 (L522P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292943	NM_001252024.2(TRPM1):c.1545T>G (p.Ile515Met)	TRPM1 (I493M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272700	NM_001252024.2(TRPM1):c.1468G>T (p.Ala490Ser)	TRPM1 (A507S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 315528	NM_001252024.2(TRPM1):c.1333A>C (p.Thr445Pro)	TRPM1 (T423P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 967354	NM_001252024.2(TRPM1):c.1324C>A (p.Pro442Thr)	TRPM1 (P459T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2617423	NM_001252024.2(TRPM1):c.1286C>G (p.Pro429Arg)	TRPM1 (P429R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884428	NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr)	TRPM1 (H419Y +2 more)	Single nucleotide variant (missense variant)	TRPM1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2532335	NM_001252024.2(TRPM1):c.1219G>T (p.Asp407Tyr)	TRPM1 (D385Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1390693	NM_001252024.2(TRPM1):c.1187A>G (p.Gln396Arg)	TRPM1 (Q396R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2623741	NM_001252024.2(TRPM1):c.1141A>C (p.Ile381Leu)	TRPM1 (I359L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514874	NM_001252024.2(TRPM1):c.1114G>A (p.Glu372Lys)	TRPM1 (E389K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1045536	NM_001252024.2(TRPM1):c.1063A>G (p.Met355Val)	TRPM1 (M333V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2313141	NM_001252024.2(TRPM1):c.1001T>C (p.Val334Ala)	TRPM1 (V312A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1383392	NM_001252024.2(TRPM1):c.767T>C (p.Ile256Thr)	TRPM1 (I234T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1489388	NM_001252024.2(TRPM1):c.508G>A (p.Val170Ile)	TRPM1 (V148I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1021662	NM_001252024.2(TRPM1):c.478G>A (p.Gly160Arg)	TRPM1 (G138R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1398033	NM_001252024.2(TRPM1):c.460G>A (p.Gly154Arg)	TRPM1 (G154R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2492726	NM_001252024.2(TRPM1):c.220C>A (p.Pro74Thr)	TRPM1 (P74T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 955491	NM_001252024.2(TRPM1):c.220C>T (p.Pro74Ser)	TRPM1 (P52S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 62