ClinVar for MedGen (Select 934772) - ClinVar

Links from MedGen

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582354	NM_004070.4(CLCNKA):c.1885G>T (p.Glu629Ter)	CLCNKA, LOC106501712 (E586* +2 more)	Single nucleotide variant (nonsense)	Bartter disease type 4B	GLikely pathogenic
Select item 2473429	NM_004070.4(CLCNKA):c.1972G>A (p.Val658Met)	CLCNKA, LOC106501712 (V657M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1668980	NM_000085.5(CLCNKB):c.2016+19C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign/Likely benign
Select item 1629196	NM_000085.5(CLCNKB):c.1227+11T>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1621722	NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg)	CLCNKB, LOC106501713 (Q216R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1621563	NM_000085.5(CLCNKB):c.782-18A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1598976	NM_000085.5(CLCNKB):c.358+20G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1575391	NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 3 +2 more	GLikely benign
Select item 1574034	NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1560568	NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 3 +2 more	GLikely benign
Select item 1522591	NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val)	CLCNKB, LOC106501713 (A77V)	Single nucleotide variant (missense variant)	Bartter disease type 4B +2 more	GUncertain significance
Select item 1520331	NM_000085.5(CLCNKB):c.1630C>T (p.Arg544Cys)	CLCNKB, LOC106501713 (R375C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1507818	NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr)	CLCNKB, LOC106501713 (I525T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1476927	NM_000085.5(CLCNKB):c.1612C>T (p.Arg538Cys)	CLCNKB, LOC106501713 (R369C +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +2 more	GUncertain significance
Select item 1449213	NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln)	CLCNKB (R33Q)	Single nucleotide variant (missense variant)	Bartter disease type 4B +2 more	GUncertain significance
Select item 1438009	NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile)	CLCNKB, LOC106501713 (M249I +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +2 more	GUncertain significance
Select item 1431438	NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His)	CLCNKB, LOC106501713 (Y99H)	Single nucleotide variant (missense variant)	Bartter disease type 3 +2 more	GUncertain significance
Select item 1376549	NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp)	CLCNKB, LOC106501713 (A319D +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GUncertain significance
Select item 1370652	NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser)	CLCNKB, LOC106501713 (A177S)	Single nucleotide variant (missense variant)	Bartter disease type 3 +2 more	GUncertain significance
Select item 1346438	NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 4B +2 more	GConflicting classifications of pathogenicity
Select item 1322094	NM_000085.5(CLCNKB):c.508G>A (p.Val170Met)	CLCNKB, LOC106501713 (V170M)	Single nucleotide variant (missense variant)	Bartter disease type 4B +2 more	GPathogenic
Select item 1209828	NM_000085.5(CLCNKB):c.*37A>C	CLCNKB, LOC106501713	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1209827	NM_000085.5(CLCNKB):c.2017-28G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209826	NM_000085.5(CLCNKB):c.1930-37T>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209776	NM_000085.5(CLCNKB):c.230-59G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209775	NM_000085.5(CLCNKB):c.101-50G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209774	NM_004070.4(CLCNKA):c.1929+31A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209773	NM_004070.4(CLCNKA):c.1929+30C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209772	NM_004070.4(CLCNKA):c.1757-13C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209771	NM_004070.4(CLCNKA):c.1623-57T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209770	NM_004070.4(CLCNKA):c.1408+13C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1209753	NM_000085.5(CLCNKB):c.1930-40A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209752	NM_000085.5(CLCNKB):c.968+47T>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209751	NM_000085.5(CLCNKB):c.867-32G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209750	NM_000085.5(CLCNKB):c.866+47del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1209692	NM_000085.5(CLCNKB):c.866+35A>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1209691	NM_000085.5(CLCNKB):c.359-70A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1183733	NM_000085.5(CLCNKB):c.498+83C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1179578	NM_004070.4(CLCNKA):c.782-36G>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1179108	GRCh37/hg19 1p36.13(chr1:16370960-16383841)	CLCNKB	Copy number loss	Bartter disease type 3 +1 more	GPathogenic
Select item 1179088	NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp)	CLCNKB, LOC106501713 (R92W)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GPathogenic
Select item 1177821	NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr)	CLCNKA, LOC106501712 (A404T +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B +2 more	GBenign
Select item 1175001	NM_000085.5(CLCNKB):c.2017-16C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 975076	NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)	CLCNKB, LOC106501713 (R76*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 932496	NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 930786	NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs)	CLCNKB, LOC106501713 (Y297fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3 +2 more	GPathogenic
Select item 801449	NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg)	CLCNKB, LOC106501713 (G268R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 801448	NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)	CLCNKB, LOC106501713 (R135* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 3 +3 more	GPathogenic/Likely pathogenic
Select item 801447	NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)	CLCNKB, LOC106501713 (Y67* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 3 +2 more	GPathogenic
Select item 791107	NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile)	CLCNKB, LOC106501713 (V524I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 789426	NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly)	CLCNKB, LOC106501713 (A214G)	Indel (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 786847	NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys)	CLCNKB, LOC106501713 (S265C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 785932	NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 3 +2 more	GBenign/Likely benign
Select item 780216	NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile)	CLCNKB, LOC106501713 (V104I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 773389	NM_004070.4(CLCNKA):c.860C>T (p.Ala287Val)	CLCNKA, LOC106501712 (A244V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 743308	NM_000085.5(CLCNKB):c.52C>T (p.Leu18=)	CLCNKB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 726748	NM_000085.5(CLCNKB):c.840T>G (p.Pro280=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 4B +2 more	GLikely benign
Select item 721970	NM_000085.5(CLCNKB):c.968+9C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GLikely benign
Select item 720090	NM_004070.4(CLCNKA):c.867-8C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 717469	NM_004070.4(CLCNKA):c.1612C>T (p.Arg538Cys)	CLCNKA, LOC106501712 (R495C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 717468	NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile)	CLCNKA, LOC106501712 (T312I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 717133	NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 4B +2 more	GLikely benign
Select item 717106	NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 713040	NM_000085.5(CLCNKB):c.1930-6A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign/Likely benign
Select item 709327	NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 591543	NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser)	CLCNKB, LOC106501713 (A206S)	Single nucleotide variant (missense variant)	Bartter disease type 4B +1 more	GUncertain significance
Select item 587598	NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)	CLCNKA (Q19*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder +2 more	GConflicting classifications of pathogenicity
Select item 585704	NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)	CLCNKB (L7fs)	Duplication (frameshift variant)	Bartter disease type 3 +2 more	GPathogenic
Select item 585701	NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His)	CLCNKB, LOC106501713 (N459H +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GUncertain significance
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 585696	NM_004070.4(CLCNKA):c.1846-6T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 548616	NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro)	CLCNKA, LOC106501712 (R538P +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B	GUncertain significance
Select item 504916	NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)	CLCNKB, LOC106501713 (A214G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 504915	NM_000085.5(CLCNKB):c.642A>C (p.Ala214=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 447108	NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val)	CLCNKB, LOC106501713 (A287V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 447107	NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu)	CLCNKB (R27L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 447105	NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 447104	NM_000085.5(CLCNKB):c.324A>G (p.Ser108=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 447097	NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 447096	NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu)	CLCNKB, LOC106501713 (K578E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 447094	NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr)	CLCNKB, LOC106501713 (M562T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 447092	NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val)	CLCNKB, LOC106501713 (A504V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 381050	NM_000085.5(CLCNKB):c.577-5C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 377683	NM_000085.5(CLCNKB):c.876T>C (p.Cys292=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 235350	NM_000085.5(CLCNKB):c.1693del (p.Glu565fs)	LOC106501713, CLCNKB (E565fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3 +2 more	GPathogenic
Select item 216904	NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer)	CLCNKB, LOC106501713	Deletion (nonsense)	Bartter disease type 3 +2 more	GPathogenic/Likely pathogenic
Select item 64459	NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr)	CLCNKA, LOC106501712 (D383Y +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B	GUncertain significance
Select item 64380	NM_000085.5(CLCNKB):c.23G>A (p.Arg8His)	CLCNKB (R8H)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 64379	NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu)	CLCNKB, LOC106501713 (V668L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 64378	NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu)	CLCNKB, LOC106501713 (F648L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 7599	NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter)	CLCNKB, LOC106501713 (W610* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 7597	NM_000085.5(CLCNKB):c.782-2A>G	CLCNKB, LOC106501713	Single nucleotide variant (splice acceptor variant)	Bartter disease type 3 +1 more	GPathogenic
Select item 7592	NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	CLCNKB, LOC106501713 (A204T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 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

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Items: 97