CLCNKA[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 394008	GRCh37/hg19 1p36.13(chr1:16350393-16358989)x3	CLCNKA	Copy number gain	See cases	GBenign

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Items: 26