1188[geneid] - 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	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	PRAMEF7, PRAMEF8 +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 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	ACTL8, AKR7A2 +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 7598	NC_000001.11:g.(16034051_16043781)_(16043881_?)del	CLCNKB, LOC106501712	Deletion	BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS	GPathogenic
Select item 148110	GRCh38/hg38 1p36.13(chr1:16037758-16050360)x1	CLCNKB, LOC106501713	Copy number loss	See cases	GBenign
Select item 154767	GRCh38/hg38 1p36.13(chr1:16037803-16056011)x3	CLCNKB, LOC106501713	Copy number gain	See cases	GLikely benign
Select item 1232074	NM_000085.5(CLCNKB):c.-8+289T>G	CLCNKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267183	NM_000085.5(CLCNKB):c.-8+302G>C	CLCNKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290356	NM_000085.5(CLCNKB):c.-7-269T>C	CLCNKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228357	NM_000085.5(CLCNKB):c.-7-247_-7-246del	CLCNKB	Deletion (intron variant)	not provided	GBenign
Select item 1243915	NM_000085.5(CLCNKB):c.-7-240C>T	CLCNKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231049	NM_000085.5(CLCNKB):c.-7-190C>G	CLCNKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269181	NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACACAT	CLCNKB	Insertion (intron variant)	not provided	GBenign
Select item 1260229	NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACAT	CLCNKB	Insertion (intron variant)	not provided	GBenign
Select item 1197677	NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACAT	CLCNKB	Insertion (intron variant)	not provided	GLikely benign
Select item 1277450	NM_000085.5(CLCNKB):c.-7-82G>A	CLCNKB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2446052	Single allele	CLCNKB, LOC106501713	Deletion	Bartter disease type 3	GPathogenic
Select item 2051903	NM_000085.5(CLCNKB):c.9G>T (p.Glu3Asp)	CLCNKB (E3D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 786451	NM_000085.5(CLCNKB):c.12T>G (p.Phe4Leu)	CLCNKB (F4L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 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 743308	NM_000085.5(CLCNKB):c.52C>T (p.Leu18=)	CLCNKB	Single nucleotide variant (synonymous variant)	not provided +2 more	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 64381	NM_000085.5(CLCNKB):c.71C>T (p.Pro24Leu)	CLCNKB (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447106	NM_000085.5(CLCNKB):c.73del (p.Cys25fs)	CLCNKB (C25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2778382	NM_000085.5(CLCNKB):c.78C>A (p.Pro26=)	CLCNKB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2049817	NM_000085.5(CLCNKB):c.86G>A (p.Arg29His)	CLCNKB (R29H)	Single nucleotide variant (missense variant)	not provided	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 1956566	NM_000085.5(CLCNKB):c.100+15C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206648	NM_000085.5(CLCNKB):c.100+195G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287171	NM_000085.5(CLCNKB):c.101-181C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183407	NM_000085.5(CLCNKB):c.101-121A>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	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 1406088	NM_000085.5(CLCNKB):c.101G>A (p.Gly34Asp)	CLCNKB, LOC106501713 (G34D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635957	NM_000085.5(CLCNKB):c.112T>C (p.Trp38Arg)	CLCNKB, LOC106501713 (W38R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2164949	NM_000085.5(CLCNKB):c.133C>T (p.Arg45Cys)	CLCNKB, LOC106501713 (R45C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181278	NM_000085.5(CLCNKB):c.134G>A (p.Arg45His)	LOC106501713, CLCNKB (R45H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070380	NM_000085.5(CLCNKB):c.141C>A (p.Gly47=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1937418	NM_000085.5(CLCNKB):c.168C>T (p.Leu56=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 447095	NM_000085.5(CLCNKB):c.171G>A (p.Gly57=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 713438	NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu)	CLCNKB, LOC106501713 (V58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2017914	NM_000085.5(CLCNKB):c.174G>A (p.Val58=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252293	NM_000085.5(CLCNKB):c.179T>C (p.Met60Thr)	CLCNKB, LOC106501713 (M60T)	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 742196	NM_000085.5(CLCNKB):c.222G>A (p.Val74=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532723	NM_000085.5(CLCNKB):c.225C>G (p.Val75=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2048297	NM_000085.5(CLCNKB):c.227G>A (p.Arg76Gln)	CLCNKB, LOC106501713 (R76Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997983	NM_000085.5(CLCNKB):c.229+5C>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002656	NM_000085.5(CLCNKB):c.229+10C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron 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 1201010	NM_000085.5(CLCNKB):c.229+101dup	CLCNKB, LOC106501713	Duplication (intron variant)	not provided	GLikely benign
Select item 1178456	NM_000085.5(CLCNKB):c.229+99_229+100insC	LOC106501713, CLCNKB	Insertion (intron variant)	not provided	GBenign
Select item 1281750	NM_000085.5(CLCNKB):c.229+102T>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238992	NM_000085.5(CLCNKB):c.229+102del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided	GBenign
Select item 1234101	NM_000085.5(CLCNKB):c.230-222G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279049	NM_000085.5(CLCNKB):c.230-119G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	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 1987204	NM_000085.5(CLCNKB):c.230-14C>G	CLCNKB, LOC106501713	Single nucleotide variant (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 7600	NM_000085.5(CLCNKB):c.230-1G>C	CLCNKB, LOC106501713	Single nucleotide variant (splice acceptor variant)	Bartter syndrome, type 3, with hypocalciuria	GPathogenic
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 447101	NM_000085.5(CLCNKB):c.230C>A (p.Ala77Glu)	LOC106501713, CLCNKB (A77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724715	NM_000085.5(CLCNKB):c.231G>A (p.Ala77=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1371097	NM_000085.5(CLCNKB):c.232C>T (p.His78Tyr)	CLCNKB, LOC106501713 (H78Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930785	NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg)	CLCNKB, LOC106501713 (Q79R)	Single nucleotide variant (missense variant)	Bartter disease type 3	GUncertain significance
Select item 1986670	NM_000085.5(CLCNKB):c.250G>C (p.Glu84Gln)	LOC106501713, CLCNKB (E84Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447102	NM_000085.5(CLCNKB):c.258G>A (p.Gly86=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 447103	NM_000085.5(CLCNKB):c.262A>C (p.Ser88Arg)	CLCNKB, LOC106501713 (S88R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 1956601	NM_000085.5(CLCNKB):c.275G>A (p.Arg92Gln)	LOC106501713, CLCNKB (R92Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345743	NM_000085.5(CLCNKB):c.280C>A (p.Leu94Ile)	CLCNKB, LOC106501713 (L94I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1584940	NM_000085.5(CLCNKB):c.282C>T (p.Leu94=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2097143	NM_000085.5(CLCNKB):c.315T>C (p.Ser105=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1396334	NM_000085.5(CLCNKB):c.320C>T (p.Ser107Phe)	CLCNKB, LOC106501713 (S107F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1920297	NM_000085.5(CLCNKB):c.338G>C (p.Ser113Thr)	CLCNKB, LOC106501713 (S113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 711749	NM_000085.5(CLCNKB):c.348C>T (p.Pro116=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous 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 2065677	NM_000085.5(CLCNKB):c.358+15G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897008	NM_000085.5(CLCNKB):c.358+19C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely 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 1280604	NM_000085.5(CLCNKB):c.358+44_358+46del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided	GBenign
Select item 1230357	NM_000085.5(CLCNKB):c.358+124A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign

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