TRPM3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 257

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	HRCT1, IFNA1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	LOC130001865, LOC130001866 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 148414	GRCh38/hg38 9q21.12-21.13(chr9:70397983-71984116)x1	ABHD17B, C9orf85 +22 more	Copy number loss	See cases	GUncertain significance
Select item 2501854	NM_001366145.2(TRPM3):c.5123C>T (p.Thr1708Ile)	KLF9-DT, TRPM3 (T1533I +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1683759	NM_001366145.2(TRPM3):c.5087G>A (p.Arg1696Gln)	KLF9-DT, TRPM3 (R1521Q +9 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GUncertain significance
Select item 3033457	NM_001366145.2(TRPM3):c.5070C>G (p.Ser1690=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 1232067	NM_001366145.2(TRPM3):c.5045G>A (p.Arg1682Gln)	KLF9-DT, TRPM3 (R1507Q +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2399971	NM_001366145.2(TRPM3):c.5027G>A (p.Arg1676Gln)	KLF9-DT, TRPM3 (R1501Q +9 more)	Single nucleotide variant (missense variant +1 more)	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 1341926	NM_001366145.2(TRPM3):c.5005A>C (p.Ser1669Arg)	KLF9-DT, TRPM3 (S1494R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2487115	NM_001366145.2(TRPM3):c.4943A>G (p.Asn1648Ser)	KLF9-DT, TRPM3 (N1483S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057944	NM_001366145.2(TRPM3):c.4938C>T (p.Arg1646=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
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 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 disorder	GBenign
Select item 1343241	NM_001366145.2(TRPM3):c.4913A>G (p.Asn1638Ser)	KLF9-DT, TRPM3 (N1463S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
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 disorder	GBenign
Select item 2483331	NM_001366145.2(TRPM3):c.4862T>C (p.Ile1621Thr)	KLF9-DT, TRPM3 (I1456T +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 3236575	NM_001366145.2(TRPM3):c.4698G>T (p.Arg1566Ser)	KLF9-DT, TRPM3 (R1391S +9 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	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 2430061	NM_001366145.2(TRPM3):c.4685G>A (p.Cys1562Tyr)	KLF9-DT, TRPM3 (C1387Y +9 more)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	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)	not provided +1 more	GLikely benign
Select item 1311789	NM_001366145.2(TRPM3):c.4637A>G (p.Asn1546Ser)	KLF9-DT, TRPM3 (N1371S +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1699259	NM_001366145.2(TRPM3):c.4493G>C (p.Trp1498Ser)	KLF9-DT, TRPM3 (W1323S +9 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
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 disorder	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 disorder	GLikely benign
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 2488489	NM_001366145.2(TRPM3):c.4411A>G (p.Ile1471Val)	KLF9-DT, TRPM3 (I1459V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2659247	NM_001366145.2(TRPM3):c.4406G>T (p.Arg1469Leu)	KLF9-DT, TRPM3 (R1294L +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1360054	NM_001366145.2(TRPM3):c.4404C>A (p.Ser1468Arg)	KLF9-DT, TRPM3 (S1303R +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2336858	NM_001366145.2(TRPM3):c.4385C>T (p.Pro1462Leu)	KLF9-DT, TRPM3 (P1312L +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393353	NM_001366145.2(TRPM3):c.4376C>A (p.Thr1459Lys)	KLF9-DT, TRPM3 (T1294K +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 2294061	NM_001366145.2(TRPM3):c.4334C>T (p.Thr1445Ile)	KLF9-DT, TRPM3 (T1280I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3042958	NM_001366145.2(TRPM3):c.4317C>T (p.Gly1439=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
Select item 1304822	NM_001366145.2(TRPM3):c.4314G>A (p.Leu1438=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2290951	NM_001366145.2(TRPM3):c.4297G>A (p.Val1433Met)	KLF9-DT, TRPM3 (V1258M +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3040634	NM_001366145.2(TRPM3):c.4296C>T (p.Ser1432=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	TRPM3-related disorder	GLikely benign
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 2338253	NM_001366145.2(TRPM3):c.4277T>C (p.Ile1426Thr)	KLF9-DT, TRPM3 (I1261T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700844	NM_001366145.2(TRPM3):c.4261G>C (p.Glu1421Gln)	TRPM3, KLF9-DT (E1246Q +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695667	NM_001366145.2(TRPM3):c.4229C>G (p.Ser1410Trp)	KLF9-DT, TRPM3 (S1235W +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428865	NM_001366145.2(TRPM3):c.4220G>A (p.Arg1407Lys)	KLF9-DT, TRPM3 (R1232K +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2341009	NM_001366145.2(TRPM3):c.4201A>G (p.Ile1401Val)	KLF9-DT, TRPM3 (I1391V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 759972	NM_001366145.2(TRPM3):c.4200C>T (p.Ala1400=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1700411	NM_001366145.2(TRPM3):c.4187C>A (p.Ala1396Asp)	KLF9-DT, TRPM3 (A1221D +9 more)	Single nucleotide variant (missense variant +1 more)	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 2330026	NM_001366145.2(TRPM3):c.4092G>T (p.Lys1364Asn)	KLF9-DT, TRPM3 (K1224N +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1184419	NM_001366145.2(TRPM3):c.4078G>A (p.Gly1360Ser)	KLF9-DT, TRPM3 (G1185S +9 more)	Single nucleotide variant (intron variant +1 more)	See cases	GUncertain significance
Select item 2476528	NM_001366145.2(TRPM3):c.4071A>T (p.Lys1357Asn)	KLF9-DT, TRPM3 (K1204N +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210054	NM_001366145.2(TRPM3):c.4068G>A (p.Met1356Ile)	KLF9-DT, TRPM3 (M1206I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1282840	NM_001366145.2(TRPM3):c.4059G>A (p.Ser1353=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 2494081	NM_001366145.2(TRPM3):c.3938T>C (p.Phe1313Ser)	KLF9-DT, TRPM3 (F1160S +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 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 3044121	NM_001366145.2(TRPM3):c.3831G>T (p.Thr1277=)	KLF9-DT, TRPM3	Single nucleotide variant (synonymous variant)	TRPM3-related disorder	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 disorder	GLikely benign
Select item 2246039	NM_001366145.2(TRPM3):c.3797C>T (p.Ala1266Val)	KLF9-DT, TRPM3 (A1101V +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2363353	NM_001366145.2(TRPM3):c.3781G>A (p.Val1261Met)	KLF9-DT, TRPM3 (V1111M +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3033476	NM_001366145.2(TRPM3):c.3708-7C>T	KLF9-DT, TRPM3	Single nucleotide variant (intron variant)	TRPM3-related disorder	GLikely benign
Select item 1329514	NM_001366145.2(TRPM3):c.3610C>T (p.His1204Tyr)	KLF9-DT, TRPM3 (H1029Y +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3059561	NM_001366145.2(TRPM3):c.3575-7del	KLF9-DT, TRPM3	Deletion (intron variant)	TRPM3-related disorder	GBenign
Select item 1710649	NM_001366145.2(TRPM3):c.3556G>A (p.Glu1186Lys)	TRPM3 (E1011K +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2497710	NM_001366145.2(TRPM3):c.3541G>A (p.Glu1181Lys)	TRPM3 (E1006K +12 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2212062	NM_001366145.2(TRPM3):c.3527G>A (p.Arg1176Gln)	TRPM3 (R1013Q +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412979	NM_001366145.2(TRPM3):c.3431A>G (p.Tyr1144Cys)	TRPM3 (Y1004C +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1516729	NM_001366145.2(TRPM3):c.3428G>A (p.Arg1143Lys)	TRPM3 (R1121K +12 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1193351	NM_001366145.2(TRPM3):c.3376A>G (p.Asn1126Asp)	TRPM3 (N1104D +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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

<< First< Prev

Page of 3