CLCNKA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	LOC126805640, LOC126805641 +206 more	Copy number loss	See cases	GPathogenic
Select item 149719	GRCh38/hg38 1p36.13(chr1:16019943-16049058)x3	CLCNKA, CLCNKB +2 more	Copy number gain	See cases	GLikely benign
Select item 1315771	NM_004070.4(CLCNKA):c.-8+273G>A	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179730	NM_004070.4(CLCNKA):c.-7-28G>A	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2358981	NM_004070.4(CLCNKA):c.8A>C (p.Glu3Ala)	CLCNKA (E3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 638437	NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu)	CLCNKA (G6E)	Single nucleotide variant (missense variant)	Bartter disease type 4B	GUncertain significance
Select item 1220926	NM_004070.4(CLCNKA):c.23G>A (p.Arg8His)	CLCNKA (R8H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2325206	NM_004070.4(CLCNKA):c.28G>T (p.Gly10Cys)	CLCNKA (G10C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587598	NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)	CLCNKA (Q19*)	Single nucleotide variant (nonsense)	Bartter disease type 4B +2 more	GConflicting classifications of pathogenicity
Select item 591213	NM_004070.4(CLCNKA):c.73del (p.Cys25fs)	CLCNKA (C25fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 64462	NM_004070.4(CLCNKA):c.74G>A (p.Cys25Tyr)	CLCNKA (C25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2514894	NM_004070.4(CLCNKA):c.86G>A (p.Arg29His)	CLCNKA (R29H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 718138	NM_004070.4(CLCNKA):c.100+10A>G	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287202	NM_004070.4(CLCNKA):c.100+122C>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318226	NM_004070.4(CLCNKA):c.100+240T>C	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291597	NM_004070.4(CLCNKA):c.100+246T>C	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316530	NM_004070.4(CLCNKA):c.100+336G>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283626	NM_004070.4(CLCNKA):c.101-267A>G	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250545	NM_004070.4(CLCNKA):c.101-172C>G	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291352	NM_004070.4(CLCNKA):c.101-133C>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706874	NM_004070.4(CLCNKA):c.101-113C>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222414	NM_004070.4(CLCNKA):c.101-33A>G	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721791	NM_004070.4(CLCNKA):c.134G>A (p.Arg45His)	CLCNKA (R45H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2248998	NM_004070.4(CLCNKA):c.140G>T (p.Gly47Val)	CLCNKA (G47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145435	NM_004070.4(CLCNKA):c.211A>G (p.Ile71Val)	CLCNKA (I71V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145436	NM_004070.4(CLCNKA):c.221T>A (p.Val74Glu)	CLCNKA (V74E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638352	NM_004070.4(CLCNKA):c.223G>T (p.Val75Phe)	CLCNKA (V75F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1318021	NM_004070.4(CLCNKA):c.229+210T>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222551	NM_004070.4(CLCNKA):c.229+269G>C	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
Select item 1224982	NM_004070.4(CLCNKA):c.230-121C>G	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 1244917	NM_004070.4(CLCNKA):c.230-15C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
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 7589	NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys)	CLCNKA, LOC106501712 (W80C)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 4B	GPathogenic
Select item 585697	NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)	CLCNKA, LOC106501712 (R83G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 782361	NM_004070.4(CLCNKA):c.310G>A (p.Val104Ile)	CLCNKA, LOC106501712 (V104I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
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 1283622	NM_004070.4(CLCNKA):c.358+100C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239746	NM_004070.4(CLCNKA):c.359-117C>A	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 1318350	NM_004070.4(CLCNKA):c.359-56C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 447088	NM_004070.4(CLCNKA):c.486C>T (p.Phe162=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1278622	NM_004070.4(CLCNKA):c.499-94G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 1229966	NM_004070.4(CLCNKA):c.655+130T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181965	NM_004070.4(CLCNKA):c.655+145C>A	LOC106501712, CLCNKA	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 1316527	NM_004070.4(CLCNKA):c.655+241C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269822	NM_004070.4(CLCNKA):c.655+256C>T	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 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 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 64463	NM_004070.4(CLCNKA):c.753G>C (p.Arg251=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64464	NM_004070.4(CLCNKA):c.754C>T (p.Leu252Phe)	CLCNKA, LOC106501712 (L252F +1 more)	Single nucleotide variant (missense variant)	not provided	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 718388	NM_004070.4(CLCNKA):c.777G>A (p.Glu259=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 7590	NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter)	CLCNKA, LOC106501712 (Q260* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 4B	GPathogenic
Select item 1179578	NM_004070.4(CLCNKA):c.782-36G>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1270481	NM_004070.4(CLCNKA):c.782-35C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
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 735788	NM_004070.4(CLCNKA):c.840T>G (p.Pro280=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 773389	NM_004070.4(CLCNKA):c.860C>T (p.Ala287Val)	CLCNKA, LOC106501712 (A244V +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GBenign/Likely benign
Select item 720090	NM_004070.4(CLCNKA):c.867-8C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 447089	NM_004070.4(CLCNKA):c.868G>T (p.Gly290Cys)	CLCNKA, LOC106501712 (G290C +1 more)	Single nucleotide variant (missense variant)	not specified	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 717468	NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile)	CLCNKA, LOC106501712 (T312I +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GConflicting classifications of pathogenicity
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 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 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 763874	NM_004070.4(CLCNKA):c.954A>G (p.Lys318=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1263729	NM_004070.4(CLCNKA):c.968+29dup	CLCNKA, LOC106501712	Duplication (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 1283329	NM_004070.4(CLCNKA):c.969-292G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785787	NM_004070.4(CLCNKA):c.969-7C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2638353	NM_004070.4(CLCNKA):c.969-5C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723378	NM_004070.4(CLCNKA):c.984C>T (p.Ser328=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous 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 447079	NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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

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