Related gene-specific medical variations for Gene (Select 1187) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379426	NM_004070.4(CLCNKA):c.1708del (p.Val570fs)	CLCNKA, LOC106501712 (V570fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3379421	NM_004070.4(CLCNKA):c.679A>G (p.Met227Val)	CLCNKA, LOC106501712 (M184V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267580	NM_004070.4(CLCNKA):c.1384A>G (p.Met462Val)	CLCNKA, LOC106501712 (M419V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267579	NM_004070.4(CLCNKA):c.1394G>T (p.Gly465Val)	CLCNKA, LOC106501712 (G422V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267577	NM_004070.4(CLCNKA):c.1079C>T (p.Ser360Leu)	CLCNKA, LOC106501712 (S360L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267576	NM_004070.4(CLCNKA):c.1831G>A (p.Ala611Thr)	CLCNKA, LOC106501712 (A611T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267575	NM_004070.4(CLCNKA):c.823G>A (p.Val275Ile)	CLCNKA, LOC106501712 (V232I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267574	NM_004070.4(CLCNKA):c.446T>A (p.Val149Glu)	CLCNKA, LOC106501712 (V106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267573	NM_004070.4(CLCNKA):c.371C>T (p.Pro124Leu)	CLCNKA, LOC106501712 (P81L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267572	NM_004070.4(CLCNKA):c.1093C>T (p.His365Tyr)	CLCNKA, LOC106501712 (H322Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267571	NM_004070.4(CLCNKA):c.502C>T (p.Pro168Ser)	CLCNKA, LOC106501712 (P125S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145440	NM_004070.4(CLCNKA):c.940C>T (p.Arg314Trp)	CLCNKA, LOC106501712 (R314W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145438	NM_004070.4(CLCNKA):c.747A>G (p.Ile249Met)	CLCNKA, LOC106501712 (I206M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145437	NM_004070.4(CLCNKA):c.575A>G (p.Glu192Gly)	CLCNKA, LOC106501712 (E149G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145434	NM_004070.4(CLCNKA):c.1726G>A (p.Val576Met)	CLCNKA, LOC106501712 (V533M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145432	NM_004070.4(CLCNKA):c.1183C>T (p.Arg395Trp)	CLCNKA, LOC106501712 (R395W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638355	NM_004070.4(CLCNKA):c.1389C>A (p.Pro463=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638354	NM_004070.4(CLCNKA):c.1305C>T (p.Ala435=)	LOC106501712, CLCNKA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638353	NM_004070.4(CLCNKA):c.969-5C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2620998	NM_004070.4(CLCNKA):c.1787G>T (p.Arg596Met)	CLCNKA, LOC106501712 (R553M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615556	NM_004070.4(CLCNKA):c.880G>A (p.Val294Ile)	CLCNKA, LOC106501712 (V251I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2603067	NM_004070.4(CLCNKA):c.584G>C (p.Ser195Thr)	CLCNKA, LOC106501712 (S152T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592918	NM_004070.4(CLCNKA):c.326G>A (p.Gly109Asp)	CLCNKA, LOC106501712 (G109D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590923	NM_004070.4(CLCNKA):c.1685C>T (p.Thr562Met)	CLCNKA, LOC106501712 (T519M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582354	NM_004070.4(CLCNKA):c.1885G>T (p.Glu629Ter)	LOC106501712, CLCNKA (E586* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 4B	GLikely pathogenic
Select item 2541239	NM_004070.4(CLCNKA):c.1981C>T (p.Arg661Trp)	CLCNKA, LOC106501712 (R618W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537434	NM_004070.4(CLCNKA):c.1418C>A (p.Ala473Asp)	CLCNKA, LOC106501712 (A430D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507816	NM_004070.4(CLCNKA):c.1834C>G (p.Pro612Ala)	CLCNKA, LOC106501712 (P612A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488505	NM_004070.4(CLCNKA):c.1528G>A (p.Ala510Thr)	CLCNKA, LOC106501712 (A510T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484926	NM_004070.4(CLCNKA):c.1505T>C (p.Leu502Pro)	CLCNKA, LOC106501712 (L459P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479294	NM_004070.4(CLCNKA):c.1435A>T (p.Thr479Ser)	CLCNKA, LOC106501712 (T436S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473429	NM_004070.4(CLCNKA):c.1972G>A (p.Val658Met)	CLCNKA, LOC106501712 (V657M +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GUncertain significance
Select item 2471415	NM_004070.4(CLCNKA):c.1715C>A (p.Thr572Asn)	CLCNKA, LOC106501712 (T529N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466121	NM_004070.4(CLCNKA):c.1051C>T (p.Arg351Trp)	CLCNKA, LOC106501712 (R308W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461928	NM_004070.4(CLCNKA):c.1037A>G (p.His346Arg)	CLCNKA, LOC106501712 (H346R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2440142	NM_004070.4(CLCNKA):c.1425_1426del (p.Ala477fs)	CLCNKA, LOC106501712 (A434fs +1 more)	Deletion (frameshift variant)	Bartter disease type 4B	GUncertain significance
Select item 2407802	NM_004070.4(CLCNKA):c.1077C>A (p.Asp359Glu)	CLCNKA, LOC106501712 (D359E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405459	NM_004070.4(CLCNKA):c.1255A>G (p.Ile419Val)	CLCNKA, LOC106501712 (I376V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392935	NM_004070.4(CLCNKA):c.769A>G (p.Asn257Asp)	CLCNKA, LOC106501712 (N214D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378261	NM_004070.4(CLCNKA):c.1454C>T (p.Ala485Val)	CLCNKA, LOC106501712 (A442V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377492	NM_004070.4(CLCNKA):c.859G>A (p.Ala287Thr)	CLCNKA, LOC106501712 (A244T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362564	NM_004070.4(CLCNKA):c.2002G>A (p.Val668Met)	CLCNKA, LOC106501712 (V625M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355198	NM_004070.4(CLCNKA):c.1943T>C (p.Phe648Ser)	CLCNKA, LOC106501712 (F605S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334880	NM_004070.4(CLCNKA):c.950C>A (p.Ser317Tyr)	CLCNKA, LOC106501712 (S274Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300502	NM_004070.4(CLCNKA):c.1253C>G (p.Thr418Ser)	CLCNKA, LOC106501712 (T375S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296750	NM_004070.4(CLCNKA):c.1103C>T (p.Ala368Val)	CLCNKA, LOC106501712 (A368V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2294109	NM_004070.4(CLCNKA):c.1589C>T (p.Pro530Leu)	CLCNKA, LOC106501712 (P487L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290220	NM_004070.4(CLCNKA):c.233A>C (p.His78Pro)	CLCNKA, LOC106501712 (H78P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285925	NM_004070.4(CLCNKA):c.700C>T (p.Arg234Trp)	CLCNKA, LOC106501712 (R191W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2268403	NM_004070.4(CLCNKA):c.1906T>G (p.Phe636Val)	CLCNKA, LOC106501712 (F593V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259386	NM_004070.4(CLCNKA):c.1427G>T (p.Gly476Val)	CLCNKA, LOC106501712 (G433V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252678	NM_004070.4(CLCNKA):c.551G>T (p.Arg184Leu)	CLCNKA, LOC106501712 (R141L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235660	NM_004070.4(CLCNKA):c.550C>T (p.Arg184Cys)	CLCNKA, LOC106501712 (R141C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229285	NM_004070.4(CLCNKA):c.1336G>A (p.Val446Ile)	CLCNKA, LOC106501712 (V446I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219839	NM_004070.4(CLCNKA):c.1798G>T (p.Val600Leu)	CLCNKA, LOC106501712 (V600L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214428	NM_004070.4(CLCNKA):c.1451C>T (p.Thr484Met)	CLCNKA, LOC106501712 (T441M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1326474	NM_004070.4(CLCNKA):c.2017-34C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318350	NM_004070.4(CLCNKA):c.359-56C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318021	NM_004070.4(CLCNKA):c.229+210T>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317547	NM_004070.4(CLCNKA):c.1054-8C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317286	NM_004070.4(CLCNKA):c.1622+168T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317048	NM_004070.4(CLCNKA):c.1408+113C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316529	NM_004070.4(CLCNKA):c.1000C>G (p.Leu334Val)	CLCNKA, LOC106501712 (L291V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1316527	NM_004070.4(CLCNKA):c.655+241C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288811	NM_004070.4(CLCNKA):c.1929+85C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286301	NM_004070.4(CLCNKA):c.655+212A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283622	NM_004070.4(CLCNKA):c.358+100C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283360	NM_004070.4(CLCNKA):c.1845+34G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283329	NM_004070.4(CLCNKA):c.969-292G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279274	NM_004070.4(CLCNKA):c.1409-87C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278743	NM_004070.4(CLCNKA):c.1756+28C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278622	NM_004070.4(CLCNKA):c.499-94G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277991	NM_004070.4(CLCNKA):c.656-58C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276976	NM_004070.4(CLCNKA):c.1227+83G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276931	NM_004070.4(CLCNKA):c.1409-86G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276004	NM_004070.4(CLCNKA):c.1409-41C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274788	NM_004070.4(CLCNKA):c.2017-16C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273706	NM_004070.4(CLCNKA):c.2017-52del	CLCNKA, LOC106501712	Deletion (intron variant)	not provided	GBenign
Select item 1270481	NM_004070.4(CLCNKA):c.782-35C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269822	NM_004070.4(CLCNKA):c.655+256C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269175	NM_004070.4(CLCNKA):c.230-52C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267296	NM_004070.4(CLCNKA):c.1930-197T>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267127	NM_004070.4(CLCNKA):c.1622+281A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267099	NM_004070.4(CLCNKA):c.1488G>A (p.Val496=)	LOC106501712, CLCNKA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1267006	NM_004070.4(CLCNKA):c.944A>T (p.Tyr315Phe)	CLCNKA, LOC106501712 (Y272F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263729	NM_004070.4(CLCNKA):c.968+29dup	CLCNKA, LOC106501712	Duplication (intron variant)	not provided	GBenign
Select item 1261162	NM_004070.4(CLCNKA):c.2016+76A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260558	NM_004070.4(CLCNKA):c.1071T>A (p.His357Gln)	CLCNKA, LOC106501712 (H314Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1260040	NM_004070.4(CLCNKA):c.1622+279A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259237	NM_004070.4(CLCNKA):c.1757-178T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251836	NM_004070.4(CLCNKA):c.*37A>C	CLCNKA, LOC106501712	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1251523	NM_004070.4(CLCNKA):c.1408+132G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250857	NM_004070.4(CLCNKA):c.1360A>G (p.Thr454Ala)	CLCNKA, LOC106501712 (T411A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1249544	NM_004070.4(CLCNKA):c.2048C>T (p.Pro683Leu)	CLCNKA, LOC106501712 (P640L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245743	NM_004070.4(CLCNKA):c.1228-39C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245125	NM_004070.4(CLCNKA):c.359-111G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244917	NM_004070.4(CLCNKA):c.230-15C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244666	NM_004070.4(CLCNKA):c.2017-155C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244137	NM_004070.4(CLCNKA):c.969-298C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242273	NM_004070.4(CLCNKA):c.230-303T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign

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