ClinVar for Gene (Select 124842) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 284

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356668	NM_001304438.2(TMEM132E):c.3114G>A (p.Glu1038=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 3355740	NM_001304438.2(TMEM132E):c.1929G>A (p.Val643=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 3353138	NM_001304438.2(TMEM132E):c.1688+10C>T	TMEM132E	Single nucleotide variant (intron variant)	TMEM132E-related disorder	GLikely benign
Select item 3348808	NM_001304438.2(TMEM132E):c.256G>C (p.Glu86Gln)	TMEM132E (E86Q)	Single nucleotide variant (missense variant)	TMEM132E-related disorder	GLikely benign
Select item 3326782	NM_001304438.2(TMEM132E):c.223C>A (p.Arg75Ser)	TMEM132E (R75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326781	NM_001304438.2(TMEM132E):c.2798A>T (p.His933Leu)	TMEM132E (H933L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326780	NM_001304438.2(TMEM132E):c.2750G>A (p.Arg917Gln)	TMEM132E (R917Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326779	NM_001304438.2(TMEM132E):c.3211A>G (p.Lys1071Glu)	TMEM132E (K1071E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326778	NM_001304438.2(TMEM132E):c.2543C>A (p.Ala848Glu)	TMEM132E (A848E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243216	NC_000017.10:g.(?_32908096)_(33513578_?)dup	CCT6B, FNDC8 +7 more	Duplication	not provided	GUncertain significance
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 3178778	NM_001304438.2(TMEM132E):c.71C>T (p.Ser24Phe)	TMEM132E (S24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3178775	NM_001304438.2(TMEM132E):c.838C>A (p.Pro280Thr)	TMEM132E (P280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3178773	NM_001304438.2(TMEM132E):c.394C>T (p.Arg132Cys)	TMEM132E (R132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3178771	NM_001304438.2(TMEM132E):c.3142T>G (p.Cys1048Gly)	TMEM132E (C1048G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178770	NM_001304438.2(TMEM132E):c.2582G>A (p.Ser861Asn)	TMEM132E (S861N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178769	NM_001304438.2(TMEM132E):c.2560G>A (p.Ala854Thr)	TMEM132E (A854T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178768	NM_001304438.2(TMEM132E):c.2557G>A (p.Glu853Lys)	TMEM132E (E853K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178767	NM_001304438.2(TMEM132E):c.2497G>A (p.Gly833Ser)	TMEM132E (G833S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178766	NM_001304438.2(TMEM132E):c.2401G>A (p.Val801Met)	TMEM132E (V801M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178765	NM_001304438.2(TMEM132E):c.2090C>T (p.Ser697Phe)	TMEM132E (S697F)	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 3178763	NM_001304438.2(TMEM132E):c.1904G>C (p.Gly635Ala)	TMEM132E (G635A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178761	NM_001304438.2(TMEM132E):c.1685G>A (p.Arg562Gln)	TMEM132E (R562Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178760	NM_001304438.2(TMEM132E):c.1559G>A (p.Arg520His)	TMEM132E (R520H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3053938	NM_001304438.2(TMEM132E):c.717T>C (p.Pro239=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
Select item 3052959	NM_001304438.2(TMEM132E):c.1145+8C>T	TMEM132E	Single nucleotide variant (intron variant)	TMEM132E-related disorder	GLikely benign
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 3048060	NM_001304438.2(TMEM132E):c.204C>A (p.Val68=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
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 3037008	NM_001304438.2(TMEM132E):c.868C>T (p.Leu290=)	TMEM132E	Single nucleotide variant (synonymous variant)	TMEM132E-related disorder	GLikely benign
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 3023373	NM_001304438.2(TMEM132E):c.2007C>A (p.Leu669=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010672	NM_001304438.2(TMEM132E):c.2506G>A (p.Glu836Lys)	TMEM132E (E836K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009510	NM_001304438.2(TMEM132E):c.966C>T (p.Pro322=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998894	NM_001304438.2(TMEM132E):c.67+13G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980628	NM_001304438.2(TMEM132E):c.2691C>T (p.Val897=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979907	NM_001304438.2(TMEM132E):c.2016G>A (p.Thr672=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969208	NM_001304438.2(TMEM132E):c.1355A>G (p.Asn452Ser)	TMEM132E (N452S)	Single nucleotide variant (missense variant)	not provided	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 2962366	NM_001304438.2(TMEM132E):c.645C>A (p.Ser215=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	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 2955361	NM_001304438.2(TMEM132E):c.999-20T>G	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954846	NM_001304438.2(TMEM132E):c.351C>G (p.Pro117=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913741	NM_001304438.2(TMEM132E):c.2842G>A (p.Gly948Arg)	TMEM132E (G948R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2907792	NM_001304438.2(TMEM132E):c.408C>A (p.Pro136=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898355	NM_001304438.2(TMEM132E):c.2766G>A (p.Pro922=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898354	NM_001304438.2(TMEM132E):c.1908T>C (p.Asp636=)	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 2888011	NM_001304438.2(TMEM132E):c.259C>T (p.Leu87=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887899	NM_001304438.2(TMEM132E):c.1431G>A (p.Leu477=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885945	NM_001304438.2(TMEM132E):c.2586C>G (p.Pro862=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875858	NM_001304438.2(TMEM132E):c.741C>G (p.Gly247=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873737	NM_001304438.2(TMEM132E):c.68-7T>C	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831105	NM_001304438.2(TMEM132E):c.1689-14T>C	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830001	NM_001304438.2(TMEM132E):c.1641C>T (p.Arg547=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811064	NM_001304438.2(TMEM132E):c.1978-4T>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790894	NM_001304438.2(TMEM132E):c.3021C>T (p.Thr1007=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784945	NM_001304438.2(TMEM132E):c.3159C>A (p.Gly1053=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743339	NM_001304438.2(TMEM132E):c.1483-20C>T	TMEM132E	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730404	NM_001304438.2(TMEM132E):c.711C>T (p.His237=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721058	NM_001304438.2(TMEM132E):c.2525C>A (p.Ala842Asp)	TMEM132E (A842D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720356	NM_001304438.2(TMEM132E):c.2625C>T (p.Thr875=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2716884	NM_001304438.2(TMEM132E):c.1296G>A (p.Thr432=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	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 2619388	NM_001304438.2(TMEM132E):c.1579C>A (p.Pro527Thr)	TMEM132E (P527T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618133	NM_001304438.2(TMEM132E):c.2749C>T (p.Arg917Trp)	TMEM132E (R917W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596872	NM_001304438.2(TMEM132E):c.1277G>A (p.Arg426Gln)	TMEM132E (R426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2591151	NM_001304438.2(TMEM132E):c.2986C>G (p.Arg996Gly)	TMEM132E (R996G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
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 2554934	NM_001304438.2(TMEM132E):c.979G>T (p.Val327Leu)	TMEM132E (V327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547162	NM_001304438.2(TMEM132E):c.1683C>A (p.Asp561Glu)	TMEM132E (D561E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541458	NM_001304438.2(TMEM132E):c.2802C>G (p.His934Gln)	TMEM132E (H934Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534880	NM_001304438.2(TMEM132E):c.3185A>G (p.Asp1062Gly)	TMEM132E (D1062G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2531785	NM_001304438.2(TMEM132E):c.200C>T (p.Ala67Val)	TMEM132E (A67V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521743	NM_001304438.2(TMEM132E):c.2558A>G (p.Glu853Gly)	TMEM132E (E853G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516825	NM_001304438.2(TMEM132E):c.2158T>C (p.Phe720Leu)	TMEM132E (F720L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2481245	NM_001304438.2(TMEM132E):c.179A>T (p.Glu60Val)	TMEM132E (E60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2421507	NM_001304438.2(TMEM132E):c.1735C>T (p.Arg579Trp)	TMEM132E (R579W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2390642	NM_001304438.2(TMEM132E):c.1105G>A (p.Val369Met)	TMEM132E (V369M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387180	NM_001304438.2(TMEM132E):c.2939A>G (p.Gln980Arg)	TMEM132E (Q980R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383516	NM_001304438.2(TMEM132E):c.1951C>G (p.Leu651Val)	TMEM132E (L651V)	Single nucleotide variant (missense variant)	not specified	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 2373645	NM_001304438.2(TMEM132E):c.1543G>A (p.Ala515Thr)	TMEM132E (A515T)	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 2354959	NM_001304438.2(TMEM132E):c.1247G>A (p.Arg416His)	TMEM132E (R416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341841	NM_001304438.2(TMEM132E):c.1736G>A (p.Arg579Gln)	TMEM132E (R579Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2337474	NM_001304438.2(TMEM132E):c.2828C>T (p.Pro943Leu)	TMEM132E (P943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3