ClinVar for MedGen (Select 335399) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893062	NM_000085.5(CLCNKB):c.656-140CCCTC[3]	CLCNKB, LOC106501713 (L7fs)	Microsatellite (frameshift variant +1 more)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3775672	NM_000085.5(CLCNKB):c.1614del (p.Asn539fs)	CLCNKB, LOC106501713 (N370fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3	GPathogenic
Select item 3775639	NM_000085.5(CLCNKB):c.1922T>C (p.Leu641Pro)	CLCNKB, LOC106501713 (L471P +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3	GUncertain significance
Select item 3731343	NM_000085.5(CLCNKB):c.787_791del (p.Ile263fs)	CLCNKB, LOC106501713 (I263fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3	GLikely pathogenic
Select item 3599694	NM_000085.5(CLCNKB):c.2056C>T (p.Pro686Ser)	CLCNKB, LOC106501713 (P516S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3599683	NM_000085.5(CLCNKB):c.2036A>G (p.Asn679Ser)	CLCNKB, LOC106501713 (N679S +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599677	NM_000085.5(CLCNKB):c.2026G>A (p.Ala676Thr)	CLCNKB, LOC106501713 (A676T +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599664	NM_000085.5(CLCNKB):c.1987A>T (p.Arg663Ter)	CLCNKB, LOC106501713 (R493* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599656	NM_000085.5(CLCNKB):c.1967T>A (p.Leu656His)	CLCNKB, LOC106501713 (L486H +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599641	NM_000085.5(CLCNKB):c.1962T>G (p.His654Gln)	CLCNKB, LOC106501713 (H484Q +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599632	NM_000085.5(CLCNKB):c.1952T>G (p.Leu651Trp)	CLCNKB, LOC106501713 (L481W +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599626	NM_000085.5(CLCNKB):c.1945G>A (p.Glu649Lys)	CLCNKB, LOC106501713 (E649K +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599615	NM_000085.5(CLCNKB):c.1930-3C>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599609	NM_000085.5(CLCNKB):c.1930-12T>G	LOC106501713, CLCNKB	Single nucleotide variant (intron variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599601	NM_000085.5(CLCNKB):c.1883C>T (p.Thr628Ile)	CLCNKB, LOC106501713 (T458I +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599593	NM_000085.5(CLCNKB):c.1874G>T (p.Gly625Val)	CLCNKB, LOC106501713 (G625V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3599588	NM_000085.5(CLCNKB):c.1856A>G (p.Gln619Arg)	CLCNKB, LOC106501713 (Q449R +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599583	NM_000085.5(CLCNKB):c.1846-1G>A	CLCNKB, LOC106501713	Single nucleotide variant (splice acceptor variant +1 more)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599576	NM_000085.5(CLCNKB):c.1780G>T (p.Val594Leu)	CLCNKB, LOC106501713 (V425L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599573	NM_000085.5(CLCNKB):c.1749G>C (p.Glu583Asp)	CLCNKB, LOC106501713 (E414D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3599563	NM_000085.5(CLCNKB):c.1712_1713del (p.Val571fs)	CLCNKB, LOC106501713 (V402fs +1 more)	Microsatellite (frameshift variant)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599561	NM_000085.5(CLCNKB):c.1702G>A (p.Val568Ile)	CLCNKB, LOC106501713 (V399I +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599554	NM_000085.5(CLCNKB):c.1663A>T (p.Ile555Phe)	CLCNKB, LOC106501713 (I386F +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599551	NM_000085.5(CLCNKB):c.1622+14A>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599542	NM_000085.5(CLCNKB):c.1586_1589dup (p.Tyr531fs)	CLCNKB, LOC106501713 (Y362fs +1 more)	Duplication (frameshift variant)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599539	NM_000085.5(CLCNKB):c.1577T>C (p.Val526Ala)	CLCNKB, LOC106501713 (V357A +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599535	NM_000085.5(CLCNKB):c.1556T>A (p.Phe519Tyr)	CLCNKB, LOC106501713 (F350Y +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599527	NM_000085.5(CLCNKB):c.1491T>G (p.His497Gln)	CLCNKB, LOC106501713 (H497Q +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599524	NM_000085.5(CLCNKB):c.1487T>C (p.Val496Ala)	CLCNKB, LOC106501713 (V327A +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599521	NM_000085.5(CLCNKB):c.1476C>T (p.Thr492=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3599504	NM_000085.5(CLCNKB):c.1438C>A (p.His480Asn)	CLCNKB, LOC106501713 (H480N +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599494	NM_000085.5(CLCNKB):c.1409-6_1409-5delinsCG	CLCNKB, LOC106501713	Indel (intron variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599492	NM_000085.5(CLCNKB):c.1409-12C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GConflicting classifications of pathogenicity
Select item 3599489	NM_000085.5(CLCNKB):c.1408+8G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599485	NM_000085.5(CLCNKB):c.1395del (p.Tyr466fs)	CLCNKB, LOC106501713 (Y466fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599461	NM_000085.5(CLCNKB):c.1340T>C (p.Ile447Thr)	LOC106501713, CLCNKB (I278T +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599427	NM_000085.5(CLCNKB):c.1228-2A>G	CLCNKB, LOC106501713	Single nucleotide variant (splice acceptor variant)	Bartter disease type 3 +1 more	GPathogenic
Select item 3599421	NM_000085.5(CLCNKB):c.1227+8C>T	LOC106501713, CLCNKB	Single nucleotide variant (intron variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599417	NM_000085.5(CLCNKB):c.1227+3G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599410	NM_000085.5(CLCNKB):c.1153C>T (p.Gln385Ter)	LOC106501713, CLCNKB (Q216* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599405	NM_000085.5(CLCNKB):c.1078T>C (p.Ser360Pro)	CLCNKB, LOC106501713 (S191P +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599402	NM_000085.5(CLCNKB):c.1053+2T>A	CLCNKB, LOC106501713	Single nucleotide variant (splice donor variant)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599393	NM_000085.5(CLCNKB):c.1033G>A (p.Gly345Ser)	CLCNKB, LOC106501713 (G176S +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599390	NM_000085.5(CLCNKB):c.1029C>G (p.Ser343Arg)	CLCNKB, LOC106501713 (S343R +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599383	NM_000085.5(CLCNKB):c.1028G>A (p.Ser343Asn)	CLCNKB, LOC106501713 (S343N +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599379	NM_000085.5(CLCNKB):c.1022C>T (p.Pro341Leu)	CLCNKB, LOC106501713 (P341L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599368	NM_000085.5(CLCNKB):c.969-2A>C	CLCNKB, LOC106501713	Single nucleotide variant (splice acceptor variant)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599358	NM_000085.5(CLCNKB):c.935A>G (p.Asn312Ser)	CLCNKB, LOC106501713 (N143S +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599354	NM_000085.5(CLCNKB):c.928A>G (p.Ile310Val)	CLCNKB, LOC106501713 (I310V +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599349	NM_000085.5(CLCNKB):c.922G>T (p.Gly308Cys)	LOC106501713, CLCNKB (G308C +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599325	NM_000085.5(CLCNKB):c.886G>A (p.Gly296Ser)	LOC106501713, CLCNKB (G296S +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599317	NM_000085.5(CLCNKB):c.867G>C (p.Gly289=)	LOC106501713, CLCNKB	Single nucleotide variant (synonymous variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599313	NM_000085.5(CLCNKB):c.869del	CLCNKB, LOC106501713	Deletion	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599309	NM_000085.5(CLCNKB):c.859_860delinsAT (p.Ala287Met)	CLCNKB, LOC106501713 (A287M +1 more)	Indel (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599306	NM_000085.5(CLCNKB):c.846CTT[1] (p.Phe285del)	CLCNKB, LOC106501713 (F116del +1 more)	Microsatellite	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599300	NM_000085.5(CLCNKB):c.815G>A (p.Arg272Gln)	CLCNKB, LOC106501713 (R103Q +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599296	NM_000085.5(CLCNKB):c.781G>T (p.Glu261Ter)	CLCNKB, LOC106501713 (E261* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599291	NM_000085.5(CLCNKB):c.765C>T (p.Val255=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 3 +1 more	GLikely benign
Select item 3599284	NM_000085.5(CLCNKB):c.725C>T (p.Ala242Val)	CLCNKB, LOC106501713 (A73V +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599276	NM_000085.5(CLCNKB):c.646C>G (p.Pro216Ala)	CLCNKB, LOC106501713 (P216A)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599269	NM_000085.5(CLCNKB):c.566G>C (p.Gly189Ala)	CLCNKB, LOC106501713 (G189A)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599260	NM_000085.5(CLCNKB):c.545G>C (p.Arg182Pro)	CLCNKB, LOC106501713 (R182P)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599253	NM_000085.5(CLCNKB):c.545G>A (p.Arg182His)	CLCNKB, LOC106501713 (R182H)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599245	NM_000085.5(CLCNKB):c.490G>A (p.Gly164Arg)	CLCNKB, LOC106501713 (G164R)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599238	NM_000085.5(CLCNKB):c.446T>A (p.Val149Glu)	CLCNKB, LOC106501713 (V149E)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GConflicting classifications of pathogenicity
Select item 3599231	NM_000085.5(CLCNKB):c.422T>C (p.Ile141Thr)	CLCNKB, LOC106501713 (I141T)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599208	NM_000085.5(CLCNKB):c.387del (p.Met129fs)	CLCNKB, LOC106501713 (M129fs)	Deletion (frameshift variant)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599203	NM_000085.5(CLCNKB):c.362C>T (p.Ser121Phe)	CLCNKB, LOC106501713 (S121F)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599200	NM_000085.5(CLCNKB):c.358+12G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3599193	NM_000085.5(CLCNKB):c.346C>A (p.Pro116Thr)	CLCNKB, LOC106501713 (P116T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3599182	NM_000085.5(CLCNKB):c.320del (p.Ser107fs)	CLCNKB, LOC106501713 (S107fs)	Deletion (frameshift variant)	Bartter disease type 3 +1 more	GLikely pathogenic
Select item 3599170	NM_000085.5(CLCNKB):c.290C>T (p.Thr97Ile)	CLCNKB, LOC106501713 (T97I)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599133	NM_000085.5(CLCNKB):c.187G>A (p.Val63Ile)	CLCNKB, LOC106501713 (V63I)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599129	NM_000085.5(CLCNKB):c.169G>C (p.Gly57Arg)	CLCNKB, LOC106501713 (G57R)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599125	NM_000085.5(CLCNKB):c.162G>A (p.Met54Ile)	CLCNKB, LOC106501713 (M54I)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599121	NM_000085.5(CLCNKB):c.148T>G (p.Trp50Gly)	CLCNKB, LOC106501713 (W50G)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599112	NM_000085.5(CLCNKB):c.131T>A (p.Phe44Tyr)	CLCNKB, LOC106501713 (F44Y)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599106	NM_000085.5(CLCNKB):c.127C>G (p.Leu43Val)	CLCNKB, LOC106501713 (L43V)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599103	NM_000085.5(CLCNKB):c.89G>A (p.Arg30Gln)	CLCNKB (R30Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3599099	NM_000085.5(CLCNKB):c.86G>T (p.Arg29Leu)	CLCNKB (R29L)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599089	NM_000085.5(CLCNKB):c.79C>T (p.Arg27Cys)	CLCNKB (R27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3599078	NM_000085.5(CLCNKB):c.32C>T (p.Ser11Phe)	CLCNKB (S11F)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599074	NM_000085.5(CLCNKB):c.29G>T (p.Gly10Val)	CLCNKB (G10V)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599072	NM_000085.5(CLCNKB):c.27A>G (p.Glu9=)	CLCNKB	Single nucleotide variant (synonymous variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599063	NM_000085.5(CLCNKB):c.22C>A (p.Arg8Ser)	CLCNKB (R8S)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3599056	NM_000085.5(CLCNKB):c.20T>C (p.Leu7Pro)	CLCNKB (L7P)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 3493352	NM_000085.5(CLCNKB):c.1397A>G (p.Tyr466Cys)	CLCNKB, LOC106501713 (Y466C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3381989	NM_000085.5(CLCNKB):c.1755A>G (p.Thr585=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 3	GLikely pathogenic
Select item 3381876	NM_000085.5(CLCNKB):c.835del (p.Leu279fs)	CLCNKB, LOC106501713 (L110fs +1 more)	Deletion (frameshift variant)	Bartter disease type 4B +1 more	GPathogenic
Select item 3361359	NM_000085.5(CLCNKB):c.1904T>C (p.Leu635Pro)	CLCNKB, LOC106501713 (L465P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3340600	NM_000085.5(CLCNKB):c.36del (p.Asn14fs)	CLCNKB (N14fs)	Deletion (frameshift variant)	Bartter disease type 4B +2 more	GPathogenic/Likely pathogenic
Select item 3267581	NM_000085.5(CLCNKB):c.1601G>A (p.Arg534Gln)	CLCNKB, LOC106501713 (R365Q +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +2 more	GUncertain significance
Select item 3242183	NM_000085.5(CLCNKB):c.1234_1246del (p.Met412fs)	LOC106501713, CLCNKB (M243fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3	GLikely pathogenic
Select item 3233380	NM_000085.5(CLCNKB):c.1408G>C (p.Gly470Arg)	CLCNKB, LOC106501713 (G301R +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3	GLikely pathogenic
Select item 3145445	NM_000085.5(CLCNKB):c.1501G>A (p.Val501Met)	CLCNKB, LOC106501713 (V332M +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +2 more	GUncertain significance
Select item 3064072	NM_000085.5(CLCNKB):c.1324G>A (p.Glu442Lys)	CLCNKB, LOC106501713 (E273K +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3	GLikely pathogenic
Select item 2987295	NM_000085.5(CLCNKB):c.1298-18C>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GConflicting classifications of pathogenicity
Select item 2977675	NM_000085.5(CLCNKB):c.416T>G (p.Leu139Arg)	CLCNKB, LOC106501713 (L139R)	Single nucleotide variant (missense variant)	Bartter disease type 4B +2 more	GUncertain significance
Select item 2733833	NM_000085.5(CLCNKB):c.1316T>C (p.Leu439Pro)	CLCNKB, LOC106501713 (L270P +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +2 more	GLikely pathogenic
Select item 2585413	NM_000338.3(SLC12A1):c.2669A>G (p.Glu890Gly)	SLC12A1 (E890G)	Single nucleotide variant (missense variant)	Bartter disease type 3	GUncertain significance

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