ClinVar for Gene (Select 64714) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210895	NM_006849.4(PDIA2):c.980G>C (p.Gly327Ala)	PDIA2 (G327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210894	NM_006849.4(PDIA2):c.952G>A (p.Asp318Asn)	PDIA2 (D318N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210893	NM_006849.4(PDIA2):c.907C>T (p.Arg303Cys)	PDIA2 (R303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210891	NM_006849.4(PDIA2):c.730C>G (p.Leu244Val)	PDIA2 (L244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210890	NM_006849.4(PDIA2):c.712G>A (p.Glu238Lys)	PDIA2 (E238K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210889	NM_006849.4(PDIA2):c.589G>A (p.Ala197Thr)	PDIA2 (A197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210888	NM_006849.4(PDIA2):c.512G>A (p.Arg171Gln)	PDIA2 (R171Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3210887	NM_006849.4(PDIA2):c.497C>T (p.Ala166Val)	PDIA2 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210886	NM_006849.4(PDIA2):c.443G>A (p.Arg148Gln)	PDIA2 (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210885	NM_006849.4(PDIA2):c.394G>A (p.Glu132Lys)	PDIA2 (E132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210884	NM_006849.4(PDIA2):c.392C>T (p.Pro131Leu)	PDIA2 (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210883	NM_006849.4(PDIA2):c.319G>A (p.Glu107Lys)	PDIA2 (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210882	NM_006849.4(PDIA2):c.182C>T (p.Ala61Val)	PDIA2 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210880	NM_006849.4(PDIA2):c.1496C>T (p.Thr499Met)	PDIA2 (T499M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210879	NM_006849.4(PDIA2):c.146G>A (p.Arg49His)	PDIA2 (R49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210878	NM_006849.4(PDIA2):c.1454A>G (p.Glu485Gly)	PDIA2 (E485G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210877	NM_006849.4(PDIA2):c.1417C>T (p.Arg473Trp)	PDIA2 (R473W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210876	NM_006849.4(PDIA2):c.1354G>C (p.Glu452Gln)	PDIA2 (E452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210875	NM_006849.4(PDIA2):c.1340A>G (p.Asp447Gly)	PDIA2 (D447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210874	NM_006849.4(PDIA2):c.1085C>T (p.Ala362Val)	PDIA2 (A362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210873	NM_006849.4(PDIA2):c.1070C>T (p.Ala357Val)	PDIA2 (A357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210872	NM_006849.4(PDIA2):c.1009C>T (p.Arg337Cys)	PDIA2 (R337C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645783	NM_006849.4(PDIA2):c.1391_1392del (p.Leu464fs)	PDIA2 (L464fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 2645782	NM_006849.4(PDIA2):c.1129C>T (p.Leu377=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645781	NM_006849.4(PDIA2):c.813C>T (p.Phe271=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645780	NM_006849.4(PDIA2):c.603C>T (p.Thr201=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645779	NM_006849.4(PDIA2):c.588C>T (p.Asp196=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645778	NM_006849.4(PDIA2):c.51G>A (p.Ser17=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608509	NM_006849.4(PDIA2):c.961C>T (p.His321Tyr)	PDIA2 (H321Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605478	NM_006849.4(PDIA2):c.862G>A (p.Ala288Thr)	PDIA2 (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603580	NM_006849.4(PDIA2):c.418G>A (p.Ala140Thr)	PDIA2 (A140T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599497	NM_006849.4(PDIA2):c.766A>G (p.Met256Val)	PDIA2 (M256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598321	NM_006849.4(PDIA2):c.1049T>C (p.Val350Ala)	PDIA2 (V350A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594770	NM_006849.4(PDIA2):c.266C>T (p.Ala89Val)	PDIA2 (A89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552384	NM_006849.4(PDIA2):c.610C>G (p.Leu204Val)	PDIA2 (L204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545479	NM_006849.4(PDIA2):c.410C>T (p.Pro137Leu)	PDIA2 (P137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541979	NM_006849.4(PDIA2):c.1069G>C (p.Ala357Pro)	PDIA2 (A357P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531756	NM_006849.4(PDIA2):c.569T>C (p.Phe190Ser)	PDIA2 (F190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531755	NM_006849.4(PDIA2):c.568T>A (p.Phe190Ile)	PDIA2 (F190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531754	NM_006849.4(PDIA2):c.565A>G (p.Thr189Ala)	PDIA2 (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524878	NM_006849.4(PDIA2):c.1495A>T (p.Thr499Ser)	PDIA2 (T499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517188	NM_006849.4(PDIA2):c.745C>T (p.Arg249Cys)	PDIA2 (R249C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514373	NM_006849.4(PDIA2):c.706G>A (p.Val236Met)	PDIA2 (V236M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512769	NM_006849.4(PDIA2):c.619C>T (p.Arg207Trp)	PDIA2 (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492450	NM_006849.4(PDIA2):c.736G>C (p.Asp246His)	PDIA2 (D246H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476517	NM_006849.4(PDIA2):c.445C>G (p.Arg149Gly)	PDIA2 (R149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	UNKL, UQCC4 +64 more	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	ANTKMT, ARHGDIG +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	PDIA2, ARHGDIG +12 more	Duplication	Epilepsy	GUncertain significance
Select item 2410968	NM_006849.4(PDIA2):c.552C>A (p.Asp184Glu)	PDIA2 (D184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409372	NM_006849.4(PDIA2):c.993G>C (p.Glu331Asp)	PDIA2 (E331D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408309	NM_006849.4(PDIA2):c.316C>T (p.Arg106Cys)	PDIA2 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406852	NM_006849.4(PDIA2):c.815C>T (p.Ala272Val)	PDIA2 (A272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388901	NM_006849.4(PDIA2):c.1180G>A (p.Val394Met)	PDIA2 (V394M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382581	NM_006849.4(PDIA2):c.505G>A (p.Gly169Ser)	PDIA2 (G169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375261	NM_006849.4(PDIA2):c.746G>T (p.Arg249Leu)	PDIA2 (R249L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371904	NM_006849.4(PDIA2):c.1526C>T (p.Pro509Leu)	PDIA2 (P509L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366418	NM_006849.4(PDIA2):c.388C>T (p.His130Tyr)	PDIA2 (H130Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365115	NM_006849.4(PDIA2):c.370C>T (p.Arg124Cys)	PDIA2 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356776	NM_006849.4(PDIA2):c.1069G>A (p.Ala357Thr)	PDIA2 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356647	NM_006849.4(PDIA2):c.898G>A (p.Ala300Thr)	PDIA2 (A300T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355962	NM_006849.4(PDIA2):c.1010G>A (p.Arg337His)	PDIA2 (R337H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355246	NM_006849.4(PDIA2):c.1003A>G (p.Thr335Ala)	PDIA2 (T335A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349802	NM_006849.4(PDIA2):c.469C>T (p.Arg157Trp)	PDIA2 (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348757	NM_006849.4(PDIA2):c.371G>A (p.Arg124His)	PDIA2 (R124H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347773	NM_006849.4(PDIA2):c.625C>T (p.Arg209Trp)	PDIA2 (R209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337646	NM_006849.4(PDIA2):c.494A>C (p.Gln165Pro)	PDIA2 (Q165P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333414	NM_006849.4(PDIA2):c.1038G>C (p.Lys346Asn)	PDIA2 (K346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328514	NM_006849.4(PDIA2):c.523G>C (p.Val175Leu)	PDIA2 (V175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319118	NM_006849.4(PDIA2):c.1405G>A (p.Ala469Thr)	PDIA2 (A469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314521	NM_006849.4(PDIA2):c.1150G>C (p.Asp384His)	PDIA2 (D384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311715	NM_006849.4(PDIA2):c.152C>G (p.Thr51Ser)	PDIA2 (T51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275392	NM_006849.4(PDIA2):c.908G>A (p.Arg303His)	PDIA2 (R303H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2274699	NM_006849.4(PDIA2):c.1541C>T (p.Pro514Leu)	PDIA2 (P514L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256288	NM_006849.4(PDIA2):c.847G>C (p.Val283Leu)	PDIA2 (V283L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2251140	NM_006849.4(PDIA2):c.265G>A (p.Ala89Thr)	PDIA2 (A89T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245356	NM_006849.4(PDIA2):c.1460T>C (p.Phe487Ser)	PDIA2 (F487S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230484	NM_006849.4(PDIA2):c.403A>G (p.Thr135Ala)	PDIA2 (T135A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229268	NM_006849.4(PDIA2):c.1493C>A (p.Pro498His)	PDIA2 (P498H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222656	NM_006849.4(PDIA2):c.539A>G (p.Gln180Arg)	PDIA2 (Q180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220569	NM_006849.4(PDIA2):c.212G>A (p.Cys71Tyr)	PDIA2 (C71Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215596	NM_006849.4(PDIA2):c.439C>G (p.Leu147Val)	PDIA2 (L147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212036	NM_006849.4(PDIA2):c.746G>A (p.Arg249His)	PDIA2 (R249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983420	NM_006849.4(PDIA2):c.383G>A (p.Arg128His)	PDIA2 (R128H)	Single nucleotide variant (missense variant)	Bicuspid aortic valve	GUncertain significance
Select item 980576	GRCh37/hg19 16p13.3(chr16:256384-542814)x3	MRPL28, FAM234A +9 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815768	GRCh37/hg19 16p13.3(chr16:205271-589830)x3	NME4, CAPN15 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 787682	NM_006849.4(PDIA2):c.780G>A (p.Thr260=)	PDIA2	Single nucleotide variant (synonymous variant)	not provided	GBenign

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