ClinVar for Gene (Select 23619) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334730	NM_001387356.1(ZIM2):c.562G>A (p.Gly188Arg)	ZIM2, ZIM2-AS1 (G157R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334729	NM_001387356.1(ZIM2):c.703G>A (p.Val235Met)	ZIM2, ZIM2-AS1 (V235M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334728	NM_001387356.1(ZIM2):c.1252A>G (p.Asn418Asp)	ZIM2, ZIM2-AS1 (N418D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334727	NM_001387356.1(ZIM2):c.499G>A (p.Ala167Thr)	ZIM2, ZIM2-AS1 (A136T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3305749	NM_006210.3(PEG3):c.1673G>T (p.Gly558Val)	PEG3, ZIM2 (G434V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305748	NM_006210.3(PEG3):c.2270A>G (p.Tyr757Cys)	PEG3, ZIM2 (Y633C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305747	NM_006210.3(PEG3):c.290T>G (p.Ile97Ser)	PEG3, ZIM2 (I97S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3305746	NM_006210.3(PEG3):c.1264A>T (p.Met422Leu)	PEG3, ZIM2 (M296L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305745	NM_006210.3(PEG3):c.3419A>T (p.Tyr1140Phe)	PEG3, ZIM2 (Y985F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305744	NM_006210.3(PEG3):c.3149A>G (p.Gln1050Arg)	PEG3, ZIM2 (Q1052R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305743	NM_006210.3(PEG3):c.4493T>C (p.Ile1498Thr)	PEG3, ZIM2 (I1343T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305742	NM_006210.3(PEG3):c.2878C>G (p.Gln960Glu)	PEG3, ZIM2 (Q960E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305741	NM_006210.3(PEG3):c.971G>A (p.Arg324His)	PEG3, ZIM2 (R326H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305740	NM_006210.3(PEG3):c.3413G>A (p.Arg1138Gln)	ZIM2, PEG3 (R1012Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305739	NM_006210.3(PEG3):c.2906A>G (p.Tyr969Cys)	PEG3, ZIM2 (Y971C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211364	NM_006210.3(PEG3):c.933C>G (p.His311Gln)	PEG3, ZIM2 (H282Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211363	NM_006210.3(PEG3):c.905G>A (p.Arg302Gln)	PEG3, ZIM2 (R147Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211362	NM_006210.3(PEG3):c.4726C>T (p.Arg1576Cys)	PEG3, PEG3-AS1 +1 more (R1576C +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3211361	NM_006210.3(PEG3):c.4520G>C (p.Cys1507Ser)	PEG3, ZIM2 (C1381S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211359	NM_006210.3(PEG3):c.4426G>C (p.Glu1476Gln)	PEG3, ZIM2 (E1478Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211358	NM_006210.3(PEG3):c.355A>C (p.Thr119Pro)	PEG3, ZIM2 (T119P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3211357	NM_006210.3(PEG3):c.3320A>G (p.Tyr1107Cys)	PEG3, ZIM2 (Y983C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211355	NM_006210.3(PEG3):c.3265A>G (p.Ile1089Val)	PEG3, ZIM2 (I963V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211354	NM_006210.3(PEG3):c.3223A>G (p.Ser1075Gly)	PEG3, ZIM2 (S1046G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211353	NM_006210.3(PEG3):c.3203C>T (p.Thr1068Ile)	PEG3, ZIM2 (T942I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211352	NM_006210.3(PEG3):c.2942G>A (p.Ser981Asn)	PEG3, ZIM2 (S855N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211351	NM_006210.3(PEG3):c.2938C>T (p.His980Tyr)	PEG3, ZIM2 (H854Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211350	NM_006210.3(PEG3):c.263T>G (p.Leu88Arg)	PEG3, ZIM2 (L88R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3211349	NM_006210.3(PEG3):c.2468A>G (p.Asn823Ser)	PEG3, ZIM2 (N823S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211348	NM_006210.3(PEG3):c.2239G>A (p.Glu747Lys)	PEG3, ZIM2 (E747K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211347	NM_006210.3(PEG3):c.2219C>T (p.Pro740Leu)	PEG3, ZIM2 (P585L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211346	NM_006210.3(PEG3):c.2058C>G (p.Asp686Glu)	PEG3, ZIM2 (D560E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211345	NM_006210.3(PEG3):c.1909C>T (p.Leu637Phe)	PEG3, ZIM2 (L482F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211344	NM_006210.3(PEG3):c.1837G>A (p.Ala613Thr)	PEG3, ZIM2 (A458T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3211343	NM_006210.3(PEG3):c.1303A>G (p.Ser435Gly)	PEG3, ZIM2 (S309G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211341	NM_006210.3(PEG3):c.1196A>G (p.Asp399Gly)	PEG3, ZIM2 (D399G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211340	NM_006210.3(PEG3):c.1186T>G (p.Phe396Val)	PEG3, ZIM2 (F241V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211339	NM_006210.3(PEG3):c.1183C>G (p.His395Asp)	PEG3, ZIM2 (H269D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193607	NM_001387356.1(ZIM2):c.1045C>T (p.Pro349Ser)	ZIM2, ZIM2-AS1 (P349S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193606	NM_001387356.1(ZIM2):c.818A>G (p.His273Arg)	ZIM2, ZIM2-AS1 (H273R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193605	NM_001387356.1(ZIM2):c.814A>G (p.Arg272Gly)	ZIM2, ZIM2-AS1 (R241G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193604	NM_001387356.1(ZIM2):c.1666G>A (p.Asp556Asn)	ZIM2, ZIM2-AS1 (D525N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193603	NM_001387356.1(ZIM2):c.1603G>A (p.Gly535Ser)	ZIM2, ZIM2-AS1 (G504S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193602	NM_001387356.1(ZIM2):c.1570C>A (p.Pro524Thr)	ZIM2, ZIM2-AS1 (P493T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193601	NM_001387356.1(ZIM2):c.1409T>C (p.Val470Ala)	ZIM2-AS1, ZIM2 (V439A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193600	NM_001387356.1(ZIM2):c.1349A>G (p.Lys450Arg)	ZIM2, ZIM2-AS1 (K419R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3193599	NM_001387356.1(ZIM2):c.1250G>T (p.Cys417Phe)	ZIM2, ZIM2-AS1 (C386F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193598	NM_001387356.1(ZIM2):c.1100C>T (p.Thr367Ile)	ZIM2, ZIM2-AS1 (T367I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 3055579	NM_006210.3(PEG3):c.4213GAAGTGGAGGCTGCTGAGCCA[1] (p.1398EVEAAEP[2])	PEG3, ZIM2	Microsatellite (inframe_deletion +1 more)	PEG3-related disorder	GLikely benign
Select item 3054889	NM_006210.3(PEG3):c.4450G>A (p.Gly1484Ser)	PEG3, ZIM2 (G1329S +5 more)	Single nucleotide variant (missense variant +1 more)	PEG3-related disorder	GLikely benign
Select item 3042927	NM_006210.3(PEG3):c.3130G>A (p.Glu1044Lys)	PEG3, ZIM2 (E1015K +5 more)	Single nucleotide variant (missense variant +1 more)	PEG3-related disorder	GLikely benign
Select item 2684894	GRCh37/hg19 19q13.43(chr19:56949121-57419586)x3	PEG3, SMIM17 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672792	NM_006210.3(PEG3):c.1813G>A (p.Gly605Arg)	PEG3, ZIM2 (G450R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2650566	NM_006210.3(PEG3):c.3310G>A (p.Asp1104Asn)	PEG3, ZIM2 (D1075N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2650565	NM_006210.3(PEG3):c.4068AGA[6] (p.Glu1360_Asp1361insGlu)	PEG3, ZIM2	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2624361	NM_006210.3(PEG3):c.4624T>C (p.Cys1542Arg)	PEG3, ZIM2 (C1513R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617937	NM_001387356.1(ZIM2):c.951T>A (p.Asp317Glu)	ZIM2, ZIM2-AS1 (D286E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609825	NM_006210.3(PEG3):c.2607T>A (p.Asn869Lys)	PEG3, ZIM2 (N743K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607640	NM_006210.3(PEG3):c.1010G>A (p.Arg337Gln)	PEG3, ZIM2 (R339Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2604919	NM_006210.3(PEG3):c.148C>G (p.Arg50Gly)	PEG3, ZIM2 (R50G)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2555278	NM_006210.3(PEG3):c.2201G>A (p.Ser734Asn)	PEG3, ZIM2 (S608N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551799	NM_006210.3(PEG3):c.3548G>T (p.Arg1183Ile)	PEG3, ZIM2 (R1057I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550611	NM_006210.3(PEG3):c.4676C>G (p.Ala1559Gly)	PEG3, PEG3-AS1 +1 more (A1435G +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2545754	NM_006210.3(PEG3):c.3724G>A (p.Glu1242Lys)	PEG3, ZIM2 (E1213K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538310	NM_006210.3(PEG3):c.2666G>A (p.Arg889His)	PEG3, ZIM2 (R734H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2529317	NM_006210.3(PEG3):c.2456G>A (p.Arg819His)	PEG3, ZIM2 (R664H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2526020	NM_001387356.1(ZIM2):c.202C>T (p.Arg68Trp)	PEG3, ZIM2 (R68W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495105	NM_006210.3(PEG3):c.1132A>C (p.Asn378His)	PEG3, ZIM2 (N223H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481503	NM_006210.3(PEG3):c.3279C>A (p.Asp1093Glu)	PEG3, ZIM2 (D969E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477537	NM_006210.3(PEG3):c.992C>A (p.Ala331Glu)	PEG3, ZIM2 (A333E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475598	NM_001387356.1(ZIM2):c.848A>G (p.Asp283Gly)	ZIM2, ZIM2-AS1 (D252G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461199	NM_001387356.1(ZIM2):c.844C>T (p.His282Tyr)	ZIM2, ZIM2-AS1 (H251Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457350	NM_006210.3(PEG3):c.1108G>T (p.Ala370Ser)	PEG3, ZIM2 (A215S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408312	NM_006210.3(PEG3):c.2939A>G (p.His980Arg)	PEG3, ZIM2 (H951R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2404146	NM_006210.3(PEG3):c.2330C>T (p.Ser777Phe)	PEG3, ZIM2 (S653F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399794	NM_006210.3(PEG3):c.3005A>G (p.Tyr1002Cys)	PEG3, ZIM2 (Y973C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394594	NM_001387356.1(ZIM2):c.1357C>T (p.Leu453Phe)	ZIM2, ZIM2-AS1 (L422F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394267	NM_006210.3(PEG3):c.424G>A (p.Asp142Asn)	PEG3, ZIM2 (D142N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393098	NM_006210.3(PEG3):c.2761G>A (p.Glu921Lys)	PEG3, ZIM2 (E923K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392385	NM_006210.3(PEG3):c.2749A>C (p.Lys917Gln)	PEG3, ZIM2 (K762Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390808	NM_006210.3(PEG3):c.23C>T (p.Ser8Phe)	PEG3, ZIM2 (S8F)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2383337	NM_006210.3(PEG3):c.4738G>A (p.Ala1580Thr)	PEG3, PEG3-AS1 +1 more (A1454T +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2382348	NM_006210.3(PEG3):c.1741C>T (p.His581Tyr)	PEG3, ZIM2 (H455Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380569	NM_006210.3(PEG3):c.3349G>A (p.Val1117Met)	PEG3, ZIM2 (V1119M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375752	NM_001387356.1(ZIM2):c.1346G>A (p.Gly449Asp)	ZIM2, ZIM2-AS1 (G449D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375500	NM_006210.3(PEG3):c.1811G>A (p.Arg604His)	PEG3, ZIM2 (R449H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368737	NM_001387356.1(ZIM2):c.722G>A (p.Arg241Gln)	ZIM2, ZIM2-AS1 (R210Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367725	NM_006210.3(PEG3):c.1810C>T (p.Arg604Cys)	PEG3, ZIM2 (R606C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357245	NM_006210.3(PEG3):c.809C>T (p.Thr270Met)	PEG3, ZIM2 (T272M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357071	NM_001387356.1(ZIM2):c.1460G>A (p.Arg487Gln)	ZIM2, ZIM2-AS1 (R456Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354377	NM_006210.3(PEG3):c.4634A>G (p.Tyr1545Cys)	PEG3, ZIM2 (Y1419C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354135	NM_006210.3(PEG3):c.1009C>T (p.Arg337Trp)	PEG3, ZIM2 (R213W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351828	NM_006210.3(PEG3):c.4080A>T (p.Glu1360Asp)	PEG3, ZIM2 (E1205D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351799	NM_006210.3(PEG3):c.4438G>A (p.Asp1480Asn)	PEG3, ZIM2 (D1325N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349333	NM_001387356.1(ZIM2):c.548A>G (p.Asn183Ser)	ZIM2, ZIM2-AS1 (N152S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2344002	NM_006210.3(PEG3):c.3440C>T (p.Thr1147Ile)	PEG3, ZIM2 (T1149I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341598	NM_006210.3(PEG3):c.4301G>A (p.Gly1434Glu)	PEG3, ZIM2 (G1310E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341490	NM_006210.3(PEG3):c.325A>G (p.Lys109Glu)	PEG3, ZIM2 (K109E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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