124842[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150096	GRCh38/hg38 17q12(chr17:33671097-34595982)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 151580	GRCh38/hg38 17q12(chr17:33671106-34595887)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 1222603	NM_001304438.2(TMEM132E):c.-234G>A	TMEM132E	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1264289	NM_001304438.2(TMEM132E):c.-60C>T	TMEM132E	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1235963	NM_001304438.2(TMEM132E):c.-32T>C	TMEM132E	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1613099	NM_001304438.2(TMEM132E):c.27C>T (p.Gly9=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898823	NM_001304438.2(TMEM132E):c.51A>T (p.Ser17=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414121	NM_001304438.2(TMEM132E):c.58C>T (p.Leu20Phe)	TMEM132E (L20F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2998894	NM_001304438.2(TMEM132E):c.67+13G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280636	NM_001304438.2(TMEM132E):c.67+48T>C	TMEM132E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1270337	NM_001304438.2(TMEM132E):c.67+55G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258412	NM_001304438.2(TMEM132E):c.68-142G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2873737	NM_001304438.2(TMEM132E):c.68-7T>C	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3178778	NM_001304438.2(TMEM132E):c.71C>T (p.Ser24Phe)	TMEM132E (S24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 595779	NM_001304438.2(TMEM132E):c.84C>G (p.His28Gln)	TMEM132E (H28Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1469714	NM_001304438.2(TMEM132E):c.104C>T (p.Pro35Leu)	TMEM132E (P35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2382664	NM_001304438.2(TMEM132E):c.110C>T (p.Pro37Leu)	TMEM132E (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1382833	NM_001304438.2(TMEM132E):c.111G>T (p.Pro37=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3178759	NM_001304438.2(TMEM132E):c.122C>T (p.Pro41Leu)	TMEM132E (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1936100	NM_001304438.2(TMEM132E):c.123G>A (p.Pro41=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198310	NM_001304438.2(TMEM132E):c.129G>A (p.Leu43=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2340893	NM_001304438.2(TMEM132E):c.154A>G (p.Thr52Ala)	TMEM132E (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178764	NM_001304438.2(TMEM132E):c.175C>G (p.Arg59Gly)	TMEM132E (R59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481245	NM_001304438.2(TMEM132E):c.179A>T (p.Glu60Val)	TMEM132E (E60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277963	NM_001304438.2(TMEM132E):c.180G>A (p.Glu60=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2588172	NM_001304438.2(TMEM132E):c.187C>A (p.Pro63Thr)	TMEM132E (P63T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359087	NM_001304438.2(TMEM132E):c.191C>T (p.Pro64Leu)	TMEM132E (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2108295	NM_001304438.2(TMEM132E):c.197C>G (p.Pro66Arg)	TMEM132E (P66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2531785	NM_001304438.2(TMEM132E):c.200C>T (p.Ala67Val)	TMEM132E (A67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048060	NM_001304438.2(TMEM132E):c.204C>A (p.Val68=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 1641662	NM_001304438.2(TMEM132E):c.228C>G (p.Ser76=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889353	NM_001304438.2(TMEM132E):c.238G>A (p.Val80Met)	TMEM132E (V80M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256078	NM_001304438.2(TMEM132E):c.257A>C (p.Glu86Ala)	TMEM132E (E86A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2888011	NM_001304438.2(TMEM132E):c.259C>T (p.Leu87=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170767	NM_001304438.2(TMEM132E):c.314G>A (p.Arg105Gln)	TMEM132E (R105Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049673	NM_001304438.2(TMEM132E):c.330G>T (p.Pro110=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 2415882	NM_001304438.2(TMEM132E):c.334A>G (p.Ser112Gly)	TMEM132E (S112G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2316261	NM_001304438.2(TMEM132E):c.336C>A (p.Ser112Arg)	TMEM132E (S112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2954846	NM_001304438.2(TMEM132E):c.351C>G (p.Pro117=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 500842	NM_001304438.2(TMEM132E):c.380G>A (p.Arg127Gln)	TMEM132E (R127Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623612	NM_001304438.2(TMEM132E):c.381G>A (p.Arg127=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 977484	NM_001304438.2(TMEM132E):c.382G>T (p.Ala128Ser)	TMEM132E (A128S)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 99	GPathogenic
Select item 3178772	NM_001304438.2(TMEM132E):c.388A>G (p.Ile130Val)	TMEM132E (I130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178773	NM_001304438.2(TMEM132E):c.394C>T (p.Arg132Cys)	TMEM132E (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2907792	NM_001304438.2(TMEM132E):c.408C>A (p.Pro136=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275950	NM_001304438.2(TMEM132E):c.413C>G (p.Ser138Trp)	TMEM132E (S138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2966617	NM_001304438.2(TMEM132E):c.420C>A (p.Pro140=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551847	NM_001304438.2(TMEM132E):c.447C>T (p.Ala149=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209030	NM_001304438.2(TMEM132E):c.460G>A (p.Asp154Asn)	TMEM132E (D154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1644183	NM_001304438.2(TMEM132E):c.470G>C (p.Gly157Ala)	TMEM132E (G157A)	Single nucleotide variant (missense variant)	TMEM132E-related disorder +1 more	GLikely benign
Select item 2960963	NM_001304438.2(TMEM132E):c.600C>T (p.Phe200=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962366	NM_001304438.2(TMEM132E):c.645C>A (p.Ser215=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2090299	NM_001304438.2(TMEM132E):c.696C>A (p.Leu232=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038079	NM_001304438.2(TMEM132E):c.706C>T (p.Leu236Phe)	TMEM132E (L236F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730404	NM_001304438.2(TMEM132E):c.711C>T (p.His237=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053938	NM_001304438.2(TMEM132E):c.717T>C (p.Pro239=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 2189250	NM_001304438.2(TMEM132E):c.729G>A (p.Gly243=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077070	NM_001304438.2(TMEM132E):c.740G>A (p.Gly247Asp)	TMEM132E (G247D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875858	NM_001304438.2(TMEM132E):c.741C>G (p.Gly247=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1554026	NM_001304438.2(TMEM132E):c.750G>T (p.Arg250=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1445448	NM_001304438.2(TMEM132E):c.754G>A (p.Ala252Thr)	TMEM132E (A252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044734	NM_001304438.2(TMEM132E):c.759G>A (p.Gly253=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 2715221	NM_001304438.2(TMEM132E):c.780G>A (p.Ala260=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178774	NM_001304438.2(TMEM132E):c.796C>A (p.His266Asn)	TMEM132E (H266N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1354919	NM_001304438.2(TMEM132E):c.809G>A (p.Arg270His)	TMEM132E (R270H)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 99 +2 more	GUncertain significance
Select item 3178775	NM_001304438.2(TMEM132E):c.838C>A (p.Pro280Thr)	TMEM132E (P280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037008	NM_001304438.2(TMEM132E):c.868C>T (p.Leu290=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 3178776	NM_001304438.2(TMEM132E):c.904C>T (p.Pro302Ser)	TMEM132E (P302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805612	NM_001304438.2(TMEM132E):c.915C>T (p.Pro305=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder +1 more	GBenign/Likely benign
Select item 2534675	NM_001304438.2(TMEM132E):c.934C>T (p.Leu312Phe)	TMEM132E (L312F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2113062	NM_001304438.2(TMEM132E):c.948C>G (p.Ala316=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593117	NM_001304438.2(TMEM132E):c.953A>G (p.Asn318Ser)	TMEM132E (N318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2058623	NM_001304438.2(TMEM132E):c.956C>G (p.Ser319Cys)	TMEM132E (S319C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1664370	NM_001304438.2(TMEM132E):c.962C>T (p.Ser321Leu)	TMEM132E (S321L)	Single nucleotide variant (missense variant)	TMEM132E-related disorder +1 more	GLikely benign
Select item 3009510	NM_001304438.2(TMEM132E):c.966C>T (p.Pro322=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598614	NM_001304438.2(TMEM132E):c.974C>G (p.Pro325Arg)	TMEM132E (P325R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2554934	NM_001304438.2(TMEM132E):c.979G>T (p.Val327Leu)	TMEM132E (V327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2119414	NM_001304438.2(TMEM132E):c.998+2T>C	TMEM132E	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1282081	NM_001304438.2(TMEM132E):c.999-119G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955361	NM_001304438.2(TMEM132E):c.999-20T>G	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3178779	NM_001304438.2(TMEM132E):c.1006G>A (p.Ala336Thr)	TMEM132E (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1659709	NM_001304438.2(TMEM132E):c.1044G>A (p.Arg348=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478755	NM_001304438.2(TMEM132E):c.1058A>T (p.His353Leu)	TMEM132E (H353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085280	NM_001304438.2(TMEM132E):c.1067C>T (p.Ser356Leu)	TMEM132E (S356L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1607726	NM_001304438.2(TMEM132E):c.1072C>T (p.Leu358=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2390642	NM_001304438.2(TMEM132E):c.1105G>A (p.Val369Met)	TMEM132E (V369M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555089	NM_001304438.2(TMEM132E):c.1125G>C (p.Gln375His)	TMEM132E (Q375H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1520406	NM_001304438.2(TMEM132E):c.1132C>A (p.Pro378Thr)	TMEM132E (P378T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052959	NM_001304438.2(TMEM132E):c.1145+8C>T	TMEM132E	Single nucleotide variant (intron variant)	TMEM132E-related disorder	GLikely benign
Select item 2085385	NM_001304438.2(TMEM132E):c.1145+9G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976080	NM_001304438.2(TMEM132E):c.1145+12G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542586	NM_001304438.2(TMEM132E):c.1146-9C>T	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2514431	NM_001304438.2(TMEM132E):c.1204A>G (p.Ser402Gly)	TMEM132E (S402G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2104236	NM_001304438.2(TMEM132E):c.1219C>T (p.Arg407Trp)	TMEM132E (R407W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271744	NM_001304438.2(TMEM132E):c.1221G>C (p.Arg407=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1030371	NM_001304438.2(TMEM132E):c.1228A>G (p.Met410Val)	TMEM132E (M410V)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 99	GUncertain significance
Select item 3035726	NM_001304438.2(TMEM132E):c.1242C>T (p.Asp414=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 2354959	NM_001304438.2(TMEM132E):c.1247G>A (p.Arg416His)	TMEM132E (R416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2165288	NM_001304438.2(TMEM132E):c.1254C>T (p.His418=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429963	NM_001304438.2(TMEM132E):c.1259C>T (p.Ala420Val)	TMEM132E (A420V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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