ClinVar for Gene (Select 80036) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183340	NM_001366145.2(TRPM3):c.73A>T (p.Asn25Tyr)	TRPM3 (N25Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183339	NM_001366145.2(TRPM3):c.686G>A (p.Arg229His)	TRPM3 (R229H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183338	NM_001366145.2(TRPM3):c.4970C>A (p.Ala1657Glu)	KLF9-DT, TRPM3 (A1482E +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183337	NM_001366145.2(TRPM3):c.4922T>G (p.Val1641Gly)	KLF9-DT, TRPM3 (V1476G +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183336	NM_001366145.2(TRPM3):c.4768G>T (p.Asp1590Tyr)	KLF9-DT, TRPM3 (D1425Y +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183335	NM_001366145.2(TRPM3):c.4687A>G (p.Ile1563Val)	KLF9-DT, TRPM3 (I1410V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183334	NM_001366145.2(TRPM3):c.4567C>G (p.Leu1523Val)	KLF9-DT, TRPM3 (L1358V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183333	NM_001366145.2(TRPM3):c.4544G>A (p.Arg1515His)	KLF9-DT, TRPM3 (R1375H +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183332	NM_001366145.2(TRPM3):c.4412T>C (p.Ile1471Thr)	KLF9-DT, TRPM3 (I1306T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183331	NM_001366145.2(TRPM3):c.4352C>T (p.Ala1451Val)	KLF9-DT, TRPM3 (A1276V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183330	NM_001366145.2(TRPM3):c.4307T>C (p.Leu1436Pro)	KLF9-DT, TRPM3 (L1271P +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183329	NM_001366145.2(TRPM3):c.4286T>C (p.Leu1429Pro)	KLF9-DT, TRPM3 (L1279P +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183328	NM_001366145.2(TRPM3):c.3977G>A (p.Ser1326Asn)	KLF9-DT, TRPM3 (S1163N +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183327	NM_001366145.2(TRPM3):c.3967C>A (p.Leu1323Ile)	KLF9-DT, TRPM3 (L1158I +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183326	NM_001366145.2(TRPM3):c.3881G>A (p.Arg1294His)	KLF9-DT, TRPM3 (R1119H +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183325	NM_001366145.2(TRPM3):c.3880C>T (p.Arg1294Cys)	KLF9-DT, TRPM3 (R1154C +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183324	NM_001366145.2(TRPM3):c.3865G>A (p.Glu1289Lys)	KLF9-DT, TRPM3 (E1304K +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183323	NM_001366145.2(TRPM3):c.3551C>T (p.Pro1184Leu)	TRPM3 (P1172L +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183322	NM_001366145.2(TRPM3):c.3226C>T (p.Pro1076Ser)	TRPM3 (P1054S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183321	NM_001366145.2(TRPM3):c.3218T>C (p.Ile1073Thr)	TRPM3 (I1061T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183320	NM_001366145.2(TRPM3):c.3109G>A (p.Ala1037Thr)	TRPM3 (A1062T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183319	NM_001366145.2(TRPM3):c.28T>C (p.Phe10Leu)	TRPM3 (F10L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183318	NM_001366145.2(TRPM3):c.2878G>A (p.Ala960Thr)	TRPM3 (A785T +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183317	NM_001366145.2(TRPM3):c.2611G>A (p.Gly871Ser)	TRPM3 (G859S +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183316	NM_001366145.2(TRPM3):c.2315T>A (p.Met772Lys)	TRPM3 (M619K +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183315	NM_001366145.2(TRPM3):c.154C>A (p.Leu52Ile)	TRPM3 (L52I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3183314	NM_001366145.2(TRPM3):c.106C>T (p.Pro36Ser)	TRPM3 (P36S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3059561	NM_001366145.2(TRPM3):c.3575-7del	KLF9-DT, TRPM3	Deletion (intron variant)	TRPM3-related condition	GBenign
Select item 3059226	NM_001366145.2(TRPM3):c.1635A>C (p.Arg545=)	TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related condition	GBenign
Select item 3058898	NM_001366145.2(TRPM3):c.677-4_677-3dup	TRPM3	Duplication (intron variant)	TRPM3-related condition	GBenign
Select item 3058722	NM_001366145.2(TRPM3):c.618G>A (p.Gly206=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GLikely benign
Select item 3057944	NM_001366145.2(TRPM3):c.4938C>T (p.Arg1646=)	KLF9-DT, TRPM3	Single nucleotide variant (intron variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3057734	NM_001366145.2(TRPM3):c.2529A>T (p.Ala843=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GLikely benign
Select item 3056256	NM_001366145.2(TRPM3):c.1368C>T (p.Asp456=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3051524	NM_001366145.2(TRPM3):c.2238G>A (p.Thr746=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GLikely benign
Select item 3049707	NM_001366145.2(TRPM3):c.3306G>A (p.Pro1102=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3048625	NM_001366145.2(TRPM3):c.753T>C (p.Ile251=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GLikely benign
Select item 3048440	NM_001366145.2(TRPM3):c.4477G>C (p.Glu1493Gln)	KLF9-DT, TRPM3 (E1318Q +9 more)	Single nucleotide variant (missense variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3048099	NM_001366145.2(TRPM3):c.3224-8C>A	TRPM3	Single nucleotide variant (intron variant)	TRPM3-related condition	GLikely benign
Select item 3045942	NM_001366145.2(TRPM3):c.2472A>G (p.Ala824=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GLikely benign
Select item 3045822	NM_001366145.2(TRPM3):c.4440C>T (p.Asp1480=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3044953	NM_001366145.2(TRPM3):c.3156G>A (p.Leu1052=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3044121	NM_001366145.2(TRPM3):c.3831G>T (p.Thr1277=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3043850	NM_001366145.2(TRPM3):c.2997C>T (p.Ile999=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3042958	NM_001366145.2(TRPM3):c.4317C>T (p.Gly1439=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3042625	NM_001366145.2(TRPM3):c.21C>T (p.Thr7=)	TRPM3	Single nucleotide variant (intron variant +1 more)	TRPM3-related condition	GBenign
Select item 3042561	NM_001366145.2(TRPM3):c.3810C>A (p.Asp1270Glu)	KLF9-DT, TRPM3 (D1095E +12 more)	Single nucleotide variant (missense variant)	TRPM3-related condition	GLikely benign
Select item 3042146	NM_001366145.2(TRPM3):c.4889A>T (p.Asn1630Ile)	KLF9-DT, TRPM3 (N1455I +9 more)	Single nucleotide variant (missense variant +1 more)	TRPM3-related condition	GBenign
Select item 3040634	NM_001366145.2(TRPM3):c.4296C>T (p.Ser1432=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3040555	NM_001366145.2(TRPM3):c.2703T>C (p.Tyr901=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GLikely benign
Select item 3039881	NM_001366145.2(TRPM3):c.4642G>A (p.Gly1548Arg)	KLF9-DT, TRPM3 (G1373R +9 more)	Single nucleotide variant (missense variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3039489	NM_001366145.2(TRPM3):c.4919C>T (p.Thr1640Ile)	KLF9-DT, TRPM3 (T1465I +9 more)	Single nucleotide variant (missense variant +1 more)	TRPM3-related condition	GBenign
Select item 3038861	NM_001366145.2(TRPM3):c.2129+8C>T	TRPM3	Single nucleotide variant (intron variant)	TRPM3-related condition	GLikely benign
Select item 3038434	NM_001366145.2(TRPM3):c.973+16686A>G	TRPM3	Single nucleotide variant (intron variant)	TRPM3-related condition	GBenign
Select item 3037780	NM_001366145.2(TRPM3):c.2673G>A (p.Ala891=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3036867	NM_001366145.2(TRPM3):c.1941T>C (p.Pro647=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3035671	NM_001366145.2(TRPM3):c.677-8_677-7insC	TRPM3	Insertion (intron variant)	TRPM3-related condition	GBenign
Select item 3035366	NM_001366145.2(TRPM3):c.973+16631C>T	TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3033476	NM_001366145.2(TRPM3):c.3708-7C>T	KLF9-DT, TRPM3	Single nucleotide variant (intron variant)	TRPM3-related condition	GLikely benign
Select item 3033457	NM_001366145.2(TRPM3):c.5070C>G (p.Ser1690=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related condition	GLikely benign
Select item 3033168	NM_001366145.2(TRPM3):c.3210G>A (p.Ala1070=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GBenign
Select item 3031427	NM_001366143.2(TRPM3):c.103A>C (p.Arg35=)	TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related condition	GLikely benign
Select item 3010448	NM_001366145.2(TRPM3):c.2647G>T (p.Val883Leu)	TRPM3 (V720L +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973494	NM_001366145.2(TRPM3):c.3999G>T (p.Glu1333Asp)	KLF9-DT, TRPM3 (E1180D +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2788259	NM_001366145.2(TRPM3):c.973+17839G>A	MIR204, TRPM3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2684578	GRCh37/hg19 9q21.12(chr9:72519172-73192366)x3	CFAP95, KLF9 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2682280	NM_001366145.2(TRPM3):c.223G>A (p.Val75Ile)	TRPM3 (V75I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2663879	NM_001366145.2(TRPM3):c.2132A>C (p.Asp711Ala)	TRPM3 (D536A +12 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	Gnot provided
Select item 2663420	NM_001366145.2(TRPM3):c.319C>T (p.Gln107Ter)	TRPM3 (Q107* +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2662894	NM_001366145.2(TRPM3):c.1632+1del	TRPM3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2662826	NM_001366145.2(TRPM3):c.1097G>C (p.Gly366Ala)	TRPM3 (G213A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662668	NM_001366145.2(TRPM3):c.2176C>A (p.Gln726Lys)	TRPM3 (Q551K +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662256	NM_001366145.2(TRPM3):c.1802C>A (p.Pro601His)	TRPM3 (P436H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659252	NM_001366145.2(TRPM3):c.456A>G (p.Lys152=)	TRPM3	Single nucleotide variant (5 prime UTR variant +1 more)	TRPM3-related condition +1 more	GBenign/Likely benign
Select item 2659251	NM_001366145.2(TRPM3):c.2208G>A (p.Thr736=)	TRPM3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2659250	NM_001366145.2(TRPM3):c.2553G>C (p.Glu851Asp)	TRPM3 (E676D +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2659249	NM_001366145.2(TRPM3):c.3708-6G>A	KLF9-DT, TRPM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659248	NM_001366145.2(TRPM3):c.3860G>A (p.Arg1287Gln)	KLF9-DT, TRPM3 (R1112Q +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2659247	NM_001366145.2(TRPM3):c.4406G>T (p.Arg1469Leu)	KLF9-DT, TRPM3 (R1294L +9 more)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2659246	NM_001366145.2(TRPM3):c.4970C>T (p.Ala1657Val)	KLF9-DT, TRPM3 (A1482V +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2637530	NM_001366145.2(TRPM3):c.3991G>T (p.Gly1331Cys)	KLF9-DT, TRPM3 (E1178* +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636235	NM_001366145.2(TRPM3):c.253del (p.His85fs)	TRPM3 (H85fs +1 more)	Deletion (5 prime UTR variant +1 more)	TRPM3-related condition	GUncertain significance
Select item 2635491	NM_001366145.2(TRPM3):c.188C>T (p.Ser63Phe)	TRPM3 (S63F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	TRPM3-related condition	GUncertain significance
Select item 2633143	NM_001366145.2(TRPM3):c.985G>A (p.Gly329Ser)	TRPM3 (G176S +4 more)	Single nucleotide variant (missense variant)	TRPM3-related condition	GUncertain significance
Select item 2633129	NM_001366145.2(TRPM3):c.1624G>A (p.Val542Ile)	TRPM3 (V389I +4 more)	Single nucleotide variant (missense variant)	TRPM3-related condition	GUncertain significance
Select item 2621095	NM_001366145.2(TRPM3):c.3284A>G (p.Lys1095Arg)	TRPM3 (K1073R +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611253	NM_001366145.2(TRPM3):c.1043T>C (p.Leu348Ser)	TRPM3 (L220S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580894	NM_001366145.2(TRPM3):c.3397T>C (p.Ser1133Pro)	TRPM3 (S1111P +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2580046	NM_001366145.2(TRPM3):c.2941G>T (p.Gly981Trp)	TRPM3 (G1006W +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576899	NM_001366145.2(TRPM3):c.4100G>C (p.Ser1367Thr)	KLF9-DT, TRPM3 (S1192T +9 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2576847	NM_001366145.2(TRPM3):c.3370T>G (p.Phe1124Val)	TRPM3 (F1102V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576841	NM_001366145.2(TRPM3):c.1064C>G (p.Pro355Arg)	TRPM3 (P202R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574846	NM_001366145.2(TRPM3):c.2570A>T (p.Asp857Val)	TRPM3 (D682V +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573885	NM_001366145.2(TRPM3):c.974-5T>A	TRPM3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2571858	NM_001366145.2(TRPM3):c.913G>A (p.Ala305Thr)	TRPM3 (A152T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558283	NM_001366145.2(TRPM3):c.1607A>G (p.Tyr536Cys)	TRPM3 (Y383C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515734	NM_001366145.2(TRPM3):c.5026C>T (p.Arg1676Trp)	KLF9-DT, TRPM3 (R1513W +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508096	NM_001366145.2(TRPM3):c.499C>T (p.Leu167Phe)	TRPM3 (L167F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506696	NM_001366145.2(TRPM3):c.1100G>A (p.Arg367Gln)	TRPM3 (R214Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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