ClinVar for Gene (Select 1188) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3242183	NM_000085.5(CLCNKB):c.1234_1246del (p.Met412fs)	CLCNKB, LOC106501713 (M243fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3	GLikely pathogenic
Select item 3234824	NM_000085.5(CLCNKB):c.1257C>T (p.Ile419=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3145451	NM_000085.5(CLCNKB):c.944T>G (p.Phe315Cys)	CLCNKB, LOC106501713 (F146C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145450	NM_000085.5(CLCNKB):c.937A>G (p.Asn313Asp)	CLCNKB, LOC106501713 (N313D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145449	NM_000085.5(CLCNKB):c.79C>G (p.Arg27Gly)	CLCNKB (R27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145448	NM_000085.5(CLCNKB):c.429C>G (p.Asn143Lys)	CLCNKB, LOC106501713 (N143K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145447	NM_000085.5(CLCNKB):c.1981C>T (p.Arg661Trp)	CLCNKB, LOC106501713 (R491W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145446	NM_000085.5(CLCNKB):c.1600C>T (p.Arg534Trp)	CLCNKB, LOC106501713 (R365W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3145445	NM_000085.5(CLCNKB):c.1501G>A (p.Val501Met)	CLCNKB, LOC106501713 (V332M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145444	NM_000085.5(CLCNKB):c.1249A>G (p.Thr417Ala)	CLCNKB, LOC106501713 (T248A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145443	NM_000085.5(CLCNKB):c.1114C>G (p.Gln372Glu)	CLCNKB, LOC106501713 (Q372E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145442	NM_000085.5(CLCNKB):c.1087G>C (p.Asp363His)	CLCNKB, LOC106501713 (D363H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145441	NM_000085.5(CLCNKB):c.1036C>T (p.Arg346Cys)	CLCNKB, LOC106501713 (R346C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 3027232	NM_000085.5(CLCNKB):c.431T>C (p.Phe144Ser)	CLCNKB, LOC106501713 (F144S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016015	NM_000085.5(CLCNKB):c.432T>C (p.Phe144=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004235	NM_000085.5(CLCNKB):c.1845+1G>C	CLCNKB, LOC106501713	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3002656	NM_000085.5(CLCNKB):c.229+10C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997983	NM_000085.5(CLCNKB):c.229+5C>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2995619	NM_000085.5(CLCNKB):c.544C>T (p.Arg182Cys)	CLCNKB, LOC106501713 (R182C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991958	NM_000085.5(CLCNKB):c.1182G>A (p.Pro394=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990998	NM_000085.5(CLCNKB):c.547_563del (p.Val183fs)	CLCNKB, LOC106501713 (V183fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2990997	NM_000085.5(CLCNKB):c.499-16A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990996	NM_000085.5(CLCNKB):c.499-17_499-16insTGG	CLCNKB, LOC106501713	Insertion (intron variant)	not provided	GLikely benign
Select item 2988771	NM_000085.5(CLCNKB):c.968+13C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987295	NM_000085.5(CLCNKB):c.1298-18C>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985037	NM_000085.5(CLCNKB):c.477C>T (p.Ser159=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983992	NM_000085.5(CLCNKB):c.63G>A (p.Leu21=)	CLCNKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983457	NM_000085.5(CLCNKB):c.1104G>A (p.Ala368=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977675	NM_000085.5(CLCNKB):c.416T>G (p.Leu139Arg)	CLCNKB, LOC106501713 (L139R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975941	NM_000085.5(CLCNKB):c.1929+17G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974441	NM_000085.5(CLCNKB):c.1500C>T (p.Pro500=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972997	NM_000085.5(CLCNKB):c.866+18G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970297	NM_000085.5(CLCNKB):c.1298-17C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966975	NM_000085.5(CLCNKB):c.577-3C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2965395	NM_000085.5(CLCNKB):c.843del (p.Ile282fs)	CLCNKB, LOC106501713 (I113fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2958637	NM_000085.5(CLCNKB):c.1389A>C (p.Pro463=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958413	NM_000085.5(CLCNKB):c.1657C>A (p.His553Asn)	CLCNKB, LOC106501713 (H384N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920158	NM_000085.5(CLCNKB):c.968+8C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910098	NM_000085.5(CLCNKB):c.761C>T (p.Ala254Val)	CLCNKB, LOC106501713 (A254V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2910097	NM_000085.5(CLCNKB):c.655G>T (p.Gly219Cys)	CLCNKB, LOC106501713 (G219C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908372	NM_000085.5(CLCNKB):c.393G>A (p.Ala131=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900978	NM_000085.5(CLCNKB):c.1921C>T (p.Leu641=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897873	NM_000085.5(CLCNKB):c.1176C>T (p.Tyr392=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893959	NM_000085.5(CLCNKB):c.372G>A (p.Pro124=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892876	NM_000085.5(CLCNKB):c.117G>A (p.Leu39=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888241	NM_000085.5(CLCNKB):c.1698G>A (p.Glu566=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884282	NM_000085.5(CLCNKB):c.2043A>G (p.Thr681=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881305	NM_000085.5(CLCNKB):c.632_633del (p.Thr211fs)	CLCNKB, LOC106501713 (T211fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2880148	NM_000085.5(CLCNKB):c.261C>T (p.Asp87=)	LOC106501713, CLCNKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875656	NM_000085.5(CLCNKB):c.1074G>A (p.Leu358=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870328	NM_000085.5(CLCNKB):c.229+20T>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869084	NM_000085.5(CLCNKB):c.968+7T>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847867	NM_000085.5(CLCNKB):c.1756+19G>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847866	NM_000085.5(CLCNKB):c.358+8C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820554	NM_000085.5(CLCNKB):c.595G>A (p.Glu199Lys)	CLCNKB, LOC106501713 (E199K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819492	NM_000085.5(CLCNKB):c.1602G>A (p.Arg534=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809155	NM_000085.5(CLCNKB):c.867-7del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided	GLikely benign
Select item 2782418	NM_000085.5(CLCNKB):c.230-10C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778382	NM_000085.5(CLCNKB):c.78C>A (p.Pro26=)	CLCNKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768049	NM_000085.5(CLCNKB):c.1641G>A (p.Val547=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745269	NM_000085.5(CLCNKB):c.1054-13T>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733833	NM_000085.5(CLCNKB):c.1316T>C (p.Leu439Pro)	CLCNKB, LOC106501713 (L270P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2733832	NM_000085.5(CLCNKB):c.1192_1203del (p.Ile398_Thr401del)	CLCNKB, LOC106501713	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2733831	NM_000085.5(CLCNKB):c.685dup (p.Ser229fs)	CLCNKB, LOC106501713 (S60fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2727842	NM_000085.5(CLCNKB):c.468C>G (p.Ala156=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720797	NM_000085.5(CLCNKB):c.1054-9C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714068	NM_000085.5(CLCNKB):c.762G>C (p.Ala254=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709799	NM_000085.5(CLCNKB):c.1776C>T (p.Gly592=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699363	NM_000085.5(CLCNKB):c.1757-74_1872delinsGT	CLCNKB, LOC106501713	Indel (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2696454	NM_000085.5(CLCNKB):c.969-16_969-11dup	CLCNKB, LOC106501713	Duplication (intron variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638356	NM_000085.5(CLCNKB):c.656-131C>T	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607006	NM_000085.5(CLCNKB):c.651C>A (p.Phe217Leu)	CLCNKB, LOC106501713 (F217L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585401	NM_000085.5(CLCNKB):c.209C>A (p.Ala70Asp)	CLCNKB, LOC106501713 (A70D)	Single nucleotide variant (missense variant)	Bartter disease type 3	GUncertain significance
Select item 2577018	NM_000085.5(CLCNKB):c.1026del (p.Ser343fs)	CLCNKB, LOC106501713 (S174fs +1 more)	Deletion (frameshift variant)	Bartter disease type 3	GLikely pathogenic
Select item 2575129	NM_000085.5(CLCNKB):c.371C>G (p.Pro124Arg)	CLCNKB, LOC106501713 (P124R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574831	NM_000085.5(CLCNKB):c.1588C>T (p.Pro530Ser)	CLCNKB, LOC106501713 (P361S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2496074	NM_000085.5(CLCNKB):c.1568C>T (p.Thr523Ile)	CLCNKB, LOC106501713 (T523I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488695	NM_000085.5(CLCNKB):c.526A>T (p.Met176Leu)	CLCNKB, LOC106501713 (M176L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480984	NM_000085.5(CLCNKB):c.470G>C (p.Cys157Ser)	CLCNKB, LOC106501713 (C157S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2480983	NM_000085.5(CLCNKB):c.469T>A (p.Cys157Ser)	CLCNKB, LOC106501713 (C157S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2469330	NM_000085.5(CLCNKB):c.1112C>T (p.Thr371Ile)	CLCNKB, LOC106501713 (T202I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2446052	Single allele	CLCNKB, LOC106501713	Deletion	Bartter disease type 3	GPathogenic
Select item 2429674	NM_000085.5(CLCNKB):c.611C>T (p.Ala204Val)	LOC106501713, CLCNKB (A204V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422019	NM_000085.5(CLCNKB):c.2048C>T (p.Pro683Leu)	CLCNKB, LOC106501713 (P513L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421328	NM_000085.5(CLCNKB):c.1620C>T (p.Ile540=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2419613	NM_000085.5(CLCNKB):c.1929+6G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2416771	NM_000085.5(CLCNKB):c.1621G>A (p.Gly541Ser)	CLCNKB, LOC106501713 (G372S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416367	NM_000085.5(CLCNKB):c.489C>T (p.Leu163=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410422	NM_000085.5(CLCNKB):c.1484T>G (p.Ile495Arg)	CLCNKB, LOC106501713 (I326R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408672	NM_000085.5(CLCNKB):c.859G>A (p.Ala287Thr)	CLCNKB, LOC106501713 (A118T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401566	NM_000085.5(CLCNKB):c.1346C>G (p.Pro449Arg)	CLCNKB, LOC106501713 (P449R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394160	NM_000085.5(CLCNKB):c.1699G>A (p.Val567Met)	CLCNKB, LOC106501713 (V567M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323609	NM_000085.5(CLCNKB):c.1234A>G (p.Met412Val)	CLCNKB, LOC106501713 (M412V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297886	NM_000085.5(CLCNKB):c.1079C>T (p.Ser360Leu)	CLCNKB, LOC106501713 (S191L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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