CLCNKB (chloride voltage-gated channel Kb) - Rat Genome Database

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Gene: CLCNKB (chloride voltage-gated channel Kb) Homo sapiens
Analyze
Symbol: CLCNKB
Name: chloride voltage-gated channel Kb
RGD ID: 736095
HGNC Page HGNC
Description: Predicted to enable voltage-gated chloride channel activity. Involved in renal sodium ion absorption. Predicted to be located in plasma membrane. Predicted to be part of chloride channel complex. Predicted to be integral component of plasma membrane. Implicated in Bartter disease type 3; Bartter disease type 4b; Gitelman syndrome; and hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: chloride channel Kb; chloride channel protein ClC-Kb; chloride channel, kidney, B; chloride channel, voltage-sensitive Kb; ClC-K2; ClC-Kb; CLCKB; hClC-Kb; MGC24087
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,043,782 - 16,057,326 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl116,040,252 - 16,057,311 (+)EnsemblGRCh38hg38GRCh38
GRCh37116,370,277 - 16,383,821 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,242,834 - 16,256,390 (+)NCBINCBI36hg18NCBI36
Build 34116,115,657 - 16,128,782NCBI
Celera114,850,148 - 14,863,702 (+)NCBI
Cytogenetic Map1p36.13NCBI
HuRef114,890,406 - 14,902,282 (+)NCBIHuRef
CHM1_1116,168,758 - 16,182,434 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal choroid morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal sclera morphology  (IAGP)
Abnormal T-wave  (IAGP)
Acute kidney injury  (IAGP)
Arthralgia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Blurred vision  (IAGP)
Cerebral calcification  (IAGP)
Chondrocalcinosis  (IAGP)
Clumsiness  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Decreased glomerular filtration rate  (IAGP)
Decreased urinary potassium  (IAGP)
Dehydration  (IAGP)
Delayed ability to stand  (IAGP)
Delayed ability to walk  (IAGP)
Delayed puberty  (IAGP)
Diabetic ketoacidosis  (IAGP)
Diarrhea  (IAGP)
Edema  (IAGP)
Emotional lability  (IAGP)
Enuresis  (IAGP)
Excessive daytime somnolence  (IAGP)
Failure to thrive  (IAGP)
Fetal polyuria  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal-onset seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Gout  (IAGP)
Graves disease  (IAGP)
Hashimoto thyroiditis  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Heterogeneous  (IAGP)
Hyperactive renin-angiotensin system  (IAGP)
Hyperaldosteronism  (IAGP)
Hypercalciuria  (IAGP)
Hyperchloriduria  (IAGP)
Hyperhidrosis  (IAGP)
Hypermagnesemia  (IAGP)
Hypernatriuria  (IAGP)
Hyperprostaglandinuria  (IAGP)
Hypocalcemia  (IAGP)
Hypocalciuria  (IAGP)
Hypochloremia  (IAGP)
Hypokalemia  (IAGP)
Hypokalemic hypochloremic metabolic alkalosis  (IAGP)
Hypokalemic metabolic alkalosis  (IAGP)
Hypomagnesemia  (IAGP)
Hyponatremia  (IAGP)
Hyporeflexia  (IAGP)
Hypotension  (IAGP)
Hypotonia  (IAGP)
Impaired reabsorption of chloride  (IAGP)
Impaired renal concentrating ability  (IAGP)
Increased circulating renin level  (IAGP)
Increased urinary potassium  (IAGP)
Insomnia  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Iron deficiency anemia  (IAGP)
Low-to-normal blood pressure  (IAGP)
Maternal diabetes  (IAGP)
Metabolic alkalosis  (IAGP)
Mitochondrial encephalopathy  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Nasogastric tube feeding  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the pancreas  (IAGP)
Nephrocalcinosis  (IAGP)
Nocturia  (IAGP)
Palpitations  (IAGP)
Paralysis  (IAGP)
Parathyroid adenoma  (IAGP)
Paresthesia  (IAGP)
Pericardial effusion  (IAGP)
Polydipsia  (IAGP)
Polyhydramnios  (IAGP)
Polyuria  (IAGP)
Premature birth  (IAGP)
Primary hyperaldosteronism  (IAGP)
Prolonged PR interval  (IAGP)
Prolonged QT interval  (IAGP)
Prominent U wave  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Raynaud phenomenon  (IAGP)
Renal Fanconi syndrome  (IAGP)
Renal insufficiency  (IAGP)
Renal potassium wasting  (IAGP)
Renal salt wasting  (IAGP)
Respiratory distress  (IAGP)
Rhabdomyolysis  (IAGP)
Salt craving  (IAGP)
Scleroderma  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe failure to thrive  (IAGP)
Small for gestational age  (IAGP)
ST segment depression  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Syncope  (IAGP)
Tinnitus  (IAGP)
Triangular face  (IAGP)
Tubulointerstitial nephritis  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Urinary incontinence  (IAGP)
Varicose veins  (IAGP)
Ventricular fibrillation  (IAGP)
Vertigo  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:8041726   PMID:8544406   PMID:8812470   PMID:9326936   PMID:10906158   PMID:11734858   PMID:11865110   PMID:12472765   PMID:12477932   PMID:14502078   PMID:14675050   PMID:14702039  
PMID:15044642   PMID:15531551   PMID:15671602   PMID:16344560   PMID:16391491   PMID:16849430   PMID:16902263   PMID:17137217   PMID:17143181   PMID:17510212   PMID:17622951   PMID:17652939  
PMID:17997379   PMID:18094726   PMID:18648499   PMID:19058262   PMID:19096086   PMID:19226700   PMID:19807735   PMID:19913121   PMID:20628086   PMID:20805576   PMID:21479528   PMID:21631963  
PMID:21644212   PMID:21865213   PMID:21873635   PMID:22578033   PMID:23345488   PMID:23703872   PMID:24271511   PMID:24863058   PMID:25919862   PMID:25923035   PMID:26013830   PMID:26063802  
PMID:26453302   PMID:26770037   PMID:28555925   PMID:29442545   PMID:31115572   PMID:31409296   PMID:31803959   PMID:31834604   PMID:33807568  


Genomics

Comparative Map Data
CLCNKB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,043,782 - 16,057,326 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl116,040,252 - 16,057,311 (+)EnsemblGRCh38hg38GRCh38
GRCh37116,370,277 - 16,383,821 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,242,834 - 16,256,390 (+)NCBINCBI36hg18NCBI36
Build 34116,115,657 - 16,128,782NCBI
Celera114,850,148 - 14,863,702 (+)NCBI
Cytogenetic Map1p36.13NCBI
HuRef114,890,406 - 14,902,282 (+)NCBIHuRef
CHM1_1116,168,758 - 16,182,434 (+)NCBICHM1_1
Clcnkb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394141,131,668 - 141,143,440 (-)NCBIGRCm39mm39
GRCm39 Ensembl4141,131,664 - 141,143,325 (-)Ensembl
GRCm384141,404,357 - 141,416,055 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4141,404,353 - 141,416,014 (-)EnsemblGRCm38mm10GRCm38
MGSCv374140,960,272 - 140,971,903 (-)NCBIGRCm37mm9NCBIm37
MGSCv364140,676,436 - 140,688,057 (-)NCBImm8
Celera4143,220,859 - 143,232,479 (-)NCBICelera
Cytogenetic Map4D3NCBI
Clcnkb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25153,710,086 - 153,733,162 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl5153,710,094 - 153,732,153 (-)Ensembl
Rnor_6.05159,950,384 - 159,973,576 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5159,950,392 - 159,962,676 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05163,670,926 - 163,694,123 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45160,294,294 - 160,305,991 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15160,304,482 - 160,316,179 (-)NCBI
Celera5152,071,911 - 152,083,591 (-)NCBICelera
Cytogenetic Map5q36NCBI
CLCNKB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1116,174,570 - 16,188,166 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,174,570 - 16,188,166 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0115,180,858 - 15,194,757 (+)NCBIMhudiblu_PPA_v0panPan3
CLCNKA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1281,612,382 - 81,627,742 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,147,805 - 78,164,129 (-)NCBI
ROS_Cfam_1.0282,257,988 - 82,274,363 (-)NCBI
UMICH_Zoey_3.1279,011,176 - 79,027,530 (-)NCBI
UNSW_CanFamBas_1.0280,028,343 - 80,044,678 (-)NCBI
UU_Cfam_GSD_1.0281,096,037 - 81,112,388 (-)NCBI
LOC103225532
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120116,241,589 - 116,255,452 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl20116,241,569 - 116,254,280 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236673203,151 - 17,253 (-)NCBIVero_WHO_p1.0

Position Markers
RH103019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,383,531 - 16,383,677UniSTSGRCh37
GRCh37116,360,273 - 16,360,419UniSTSGRCh37
Build 36116,232,860 - 16,233,006RGDNCBI36
Celera114,863,430 - 14,863,576UniSTS
Celera114,840,178 - 14,840,324RGD
Cytogenetic Map1p36UniSTS
HuRef114,902,010 - 14,902,156UniSTS
GeneMap99-GB4 RH Map158.89UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:947
Count of miRNA genes:435
Interacting mature miRNAs:464
Transcripts:ENST00000375667, ENST00000375679, ENST00000431772
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 11 605 81 2 175 219 42 610 80
Low 878 1333 655 93 33 19 1100 733 1268 86 1139 452 75 333 827 2 2
Below cutoff 1440 1180 244 240 801 236 3011 1331 2172 68 227 473 13 837 1839 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK098217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA369686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA424588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA623867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA624942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA627682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA628551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA633177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z30644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000375667   ⟹   ENSP00000364819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,048,789 - 16,057,308 (+)Ensembl
RefSeq Acc Id: ENST00000375679   ⟹   ENSP00000364831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,043,782 - 16,057,308 (+)Ensembl
RefSeq Acc Id: ENST00000431772   ⟹   ENSP00000389344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,052,323 - 16,057,308 (+)Ensembl
RefSeq Acc Id: ENST00000619181   ⟹   ENSP00000483866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,043,736 - 16,057,285 (+)Ensembl
RefSeq Acc Id: ENST00000682338   ⟹   ENSP00000507062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,040,339 - 16,057,311 (+)Ensembl
RefSeq Acc Id: ENST00000682793   ⟹   ENSP00000506910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,040,985 - 16,057,293 (+)Ensembl
RefSeq Acc Id: ENST00000682838   ⟹   ENSP00000507652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,040,993 - 16,057,288 (+)Ensembl
RefSeq Acc Id: ENST00000683578   ⟹   ENSP00000507430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,040,339 - 16,057,257 (+)Ensembl
RefSeq Acc Id: ENST00000683606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,048,850 - 16,057,307 (+)Ensembl
RefSeq Acc Id: ENST00000683661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,045,823 - 16,057,287 (+)Ensembl
RefSeq Acc Id: ENST00000684324   ⟹   ENSP00000507937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,040,252 - 16,057,279 (+)Ensembl
RefSeq Acc Id: ENST00000684545   ⟹   ENSP00000506733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,040,276 - 16,057,252 (+)Ensembl
RefSeq Acc Id: ENST00000684624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,049,000 - 16,057,252 (+)Ensembl
RefSeq Acc Id: ENST00000684650
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,056,524 - 16,057,305 (+)Ensembl
RefSeq Acc Id: ENST00000684714   ⟹   ENSP00000506861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,041,440 - 16,057,303 (+)Ensembl
RefSeq Acc Id: ENST00000684731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,048,384 - 16,057,194 (+)Ensembl
RefSeq Acc Id: NM_000085   ⟹   NP_000076
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,043,782 - 16,057,308 (+)NCBI
GRCh37116,370,231 - 16,383,821 (+)NCBI
Build 36116,242,834 - 16,256,390 (+)NCBI Archive
CHM1_1116,168,758 - 16,182,434 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001165945   ⟹   NP_001159417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,048,762 - 16,057,326 (+)NCBI
GRCh37116,370,231 - 16,383,821 (+)NCBI
CHM1_1116,173,783 - 16,182,434 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000076   ⟸   NM_000085
- Peptide Label: isoform 1
- UniProtKB: P51801 (UniProtKB/Swiss-Prot),   A8K8H0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159417   ⟸   NM_001165945
- Peptide Label: isoform 2
- UniProtKB: P51801 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000364819   ⟸   ENST00000375667
RefSeq Acc Id: ENSP00000364831   ⟸   ENST00000375679
RefSeq Acc Id: ENSP00000389344   ⟸   ENST00000431772
RefSeq Acc Id: ENSP00000483866   ⟸   ENST00000619181
RefSeq Acc Id: ENSP00000507937   ⟸   ENST00000684324
RefSeq Acc Id: ENSP00000507430   ⟸   ENST00000683578
RefSeq Acc Id: ENSP00000507062   ⟸   ENST00000682338
RefSeq Acc Id: ENSP00000506910   ⟸   ENST00000682793
RefSeq Acc Id: ENSP00000506861   ⟸   ENST00000684714
RefSeq Acc Id: ENSP00000507652   ⟸   ENST00000682838
RefSeq Acc Id: ENSP00000506733   ⟸   ENST00000684545
Protein Domains
CBS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51801-F1-model_v2 AlphaFold P51801 1-687 view protein structure

Promoters
RGD ID:6854242
Promoter ID:EPDNEW_H286
Type:initiation region
Name:CLCNKB_1
Description:chloride voltage-gated channel Kb
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H287  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,043,803 - 16,043,863EPDNEW
RGD ID:6854244
Promoter ID:EPDNEW_H287
Type:multiple initiation site
Name:CLCNKB_2
Description:chloride voltage-gated channel Kb
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H286  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,044,126 - 16,044,186EPDNEW
RGD ID:6784927
Promoter ID:HG_KWN:922
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000375667,   NM_001165945
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,247,606 - 16,248,106 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter) single nucleotide variant Bartter disease type 3 [RCV000986258]|not provided [RCV000518074] Chr1:16055461 [GRCh38]
Chr1:16381956 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) single nucleotide variant not provided [RCV000962923]|not specified [RCV000517729] Chr1:16045628 [GRCh38]
Chr1:16372123 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_000085.5(CLCNKB):c.230C>A (p.Ala77Glu) single nucleotide variant not specified [RCV000518157] Chr1:16046535 [GRCh38]
Chr1:16373030 [GRCh37]
Chr1:1p36.13
uncertain significance
CLCNKB, DEL deletion Bartter disease type 3 [RCV000008034] Chr1:1p36 pathogenic
NM_000085.5(CLCNKB):c.782-2A>G single nucleotide variant Bartter disease type 3 [RCV000008035]|not provided [RCV001729341] Chr1:16049616 [GRCh38]
Chr1:16376111 [GRCh37]
Chr1:1p36.13
pathogenic|likely pathogenic
CLCNKB, DEL deletion BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS [RCV000008036] Chr1:1p36 pathogenic
NM_000085.5(CLCNKB):c.230-1G>C single nucleotide variant Bartter syndrome, type 3, with hypocalciuria [RCV000008038] Chr1:16046534 [GRCh38]
Chr1:16373029 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1929+1G>A single nucleotide variant BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS [RCV000008039] Chr1:16055759 [GRCh38]
Chr1:16382254 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1391G>C (p.Gly464Ala) single nucleotide variant not provided [RCV000722298] Chr1:16051803 [GRCh38]
Chr1:16378298 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.73del (p.Cys25fs) deletion not provided [RCV000518266] Chr1:16044565 [GRCh38]
Chr1:16371060 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr) single nucleotide variant Bartter disease type 3 [RCV001579039]|Bartter disease type 4B [RCV001579038]|not provided [RCV001683550]|not specified [RCV000516781] Chr1:16053701 [GRCh38]
Chr1:16380196 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.258G>A (p.Gly86=) single nucleotide variant not provided [RCV000967906]|not specified [RCV000516436] Chr1:16046563 [GRCh38]
Chr1:16373058 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_000085.5(CLCNKB):c.1631_1632delinsAT (p.Arg544His) indel not specified [RCV000518532] Chr1:16053647..16053648 [GRCh38]
Chr1:16380142..16380143 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1879C>A (p.Pro627Thr) single nucleotide variant not specified [RCV000518643] Chr1:16055708 [GRCh38]
Chr1:16382203 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.371C>T (p.Pro124Leu) single nucleotide variant Bartter disease type 3 [RCV000008029] Chr1:16047917 [GRCh38]
Chr1:16374412 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr) single nucleotide variant Bartter disease type 3 [RCV000008030]|Bartter disease type 3 [RCV001535912]|not provided [RCV001280721] Chr1:16048537 [GRCh38]
Chr1:16375032 [GRCh37]
Chr1:1p36.13
pathogenic|likely pathogenic
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys) single nucleotide variant Bartter disease type 3 [RCV000008031]|not provided [RCV000054563] Chr1:16051724 [GRCh38]
Chr1:16378219 [GRCh37]
Chr1:1p36.13
pathogenic|uncertain significance
NM_000085.5(CLCNKB):c.1046C>A (p.Ala349Asp) single nucleotide variant Bartter disease type 3 [RCV000008032] Chr1:16050593 [GRCh38]
Chr1:16377088 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1294T>C (p.Tyr432His) single nucleotide variant Bartter disease type 3 [RCV000008033] Chr1:16051544 [GRCh38]
Chr1:16378039 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1830G>A (p.Trp610Ter) single nucleotide variant Bartter disease type 3 [RCV001536025]|Bartter syndrome, type 3, with hypocalciuria [RCV000008037]|not provided [RCV000413605] Chr1:16055508 [GRCh38]
Chr1:16382003 [GRCh37]
Chr1:1p36.13
pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 copy number gain See cases [RCV000051799] Chr1:13619979..18466172 [GRCh38]
Chr1:13946474..18792666 [GRCh37]
Chr1:13819061..18665253 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
NM_000085.5(CLCNKB):c.1675G>A (p.Ala559Thr) single nucleotide variant not provided [RCV000054564] Chr1:16053691 [GRCh38]
Chr1:16380186 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu) single nucleotide variant not provided [RCV000054565] Chr1:16056436 [GRCh38]
Chr1:16382931 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu) single nucleotide variant not provided [RCV000054566] Chr1:16056494 [GRCh38]
Chr1:16382989 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.23G>A (p.Arg8His) single nucleotide variant not provided [RCV000054567] Chr1:16044515 [GRCh38]
Chr1:16371010 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.71C>T (p.Pro24Leu) single nucleotide variant not provided [RCV000054568] Chr1:16044563 [GRCh38]
Chr1:16371058 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1 copy number loss See cases [RCV000053769] Chr1:15173497..18242678 [GRCh38]
Chr1:15499993..18569172 [GRCh37]
Chr1:15372580..18441759 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1 copy number loss See cases [RCV000053771] Chr1:15173497..17019576 [GRCh38]
Chr1:15499993..17346071 [GRCh37]
Chr1:15372580..17218658 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
NM_000085.4(CLCNKB):c.717C>T (p.Gly239=) single nucleotide variant Malignant melanoma [RCV000059973] Chr1:16049181 [GRCh38]
Chr1:16375676 [GRCh37]
Chr1:16248263 [NCBI36]
Chr1:1p36.13
not provided
GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1 copy number loss See cases [RCV000135597] Chr1:15052047..16499873 [GRCh38]
Chr1:15378543..16826368 [GRCh37]
Chr1:15251130..16698955 [NCBI36]
Chr1:1p36.21-36.13
likely pathogenic|uncertain significance
GRCh38/hg38 1p36.13(chr1:16037758-16050360)x1 copy number loss See cases [RCV000137192] Chr1:16037758..16050360 [GRCh38]
Chr1:16364253..16376855 [GRCh37]
Chr1:16236840..16249442 [NCBI36]
Chr1:1p36.13
benign
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 copy number loss See cases [RCV000138070] Chr1:15681812..19662339 [GRCh38]
Chr1:16008307..19988832 [GRCh37]
Chr1:15880894..19861419 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.13(chr1:16019943-16049058)x3 copy number gain See cases [RCV000138690] Chr1:16019943..16049058 [GRCh38]
Chr1:16346438..16375553 [GRCh37]
Chr1:16219025..16248140 [NCBI36]
Chr1:1p36.13
likely benign
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.13(chr1:16037803-16056011)x3 copy number gain See cases [RCV000142834] Chr1:16037803..16056011 [GRCh38]
Chr1:16364298..16382506 [GRCh37]
Chr1:16236885..16255093 [NCBI36]
Chr1:1p36.13
likely benign
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
NM_000085.5(CLCNKB):c.1897del (p.Thr632_Leu633insTer) deletion Bartter disease type 3 [RCV000198263] Chr1:16055724 [GRCh38]
Chr1:16382219 [GRCh37]
Chr1:1p36.13
likely pathogenic
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
NM_000085.5(CLCNKB):c.1693del (p.Glu565fs) deletion not provided [RCV000224201] Chr1:16053708 [GRCh38]
Chr1:16380203 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu) single nucleotide variant Bartter disease type 3 [RCV001579091]|Bartter disease type 4B [RCV001579090]|not provided [RCV000710106]|not specified [RCV000516547] Chr1:16044572 [GRCh38]
Chr1:16371067 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1381dup (p.Ile461fs) duplication Bartter disease type 3 [RCV000408763] Chr1:16051792..16051793 [GRCh38]
Chr1:16378287..16378288 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.2016+109G>A single nucleotide variant not provided [RCV001571700] Chr1:16056617 [GRCh38]
Chr1:16383112 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu) single nucleotide variant Bartter disease type 3 [RCV001579041]|Bartter disease type 4B [RCV001579040]|not provided [RCV000710101]|not specified [RCV000518557] Chr1:16053748 [GRCh38]
Chr1:16380243 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.616G>T (p.Ala206Ser) single nucleotide variant not provided [RCV000722724] Chr1:16048543 [GRCh38]
Chr1:16375038 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.865G>A (p.Gly289Arg) single nucleotide variant not provided [RCV000723231] Chr1:16049701 [GRCh38]
Chr1:16376196 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=) single nucleotide variant Bartter disease type 3 [RCV001579043]|Bartter disease type 4B [RCV001579042]|not provided [RCV000710102]|not specified [RCV000517156] Chr1:16053757 [GRCh38]
Chr1:16380252 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=) single nucleotide variant Bartter disease type 3 [RCV001578900]|Bartter disease type 4B [RCV001579096]|not provided [RCV000710103]|not specified [RCV000517867] Chr1:16046629 [GRCh38]
Chr1:16373124 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1297+5G>T single nucleotide variant not provided [RCV000971454]|not specified [RCV000518420] Chr1:16051552 [GRCh38]
Chr1:16378047 [GRCh37]
Chr1:1p36.13
benign|uncertain significance
NM_000085.5(CLCNKB):c.1409-6T>C single nucleotide variant not provided [RCV000967907]|not specified [RCV000516686] Chr1:16052192 [GRCh38]
Chr1:16378687 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_000085.5(CLCNKB):c.1979C>T (p.Ser660Leu) single nucleotide variant not provided [RCV000516911] Chr1:16056471 [GRCh38]
Chr1:16382966 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.262A>C (p.Ser88Arg) single nucleotide variant not provided [RCV001722436]|not specified [RCV000517361] Chr1:16046567 [GRCh38]
Chr1:16373062 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val) single nucleotide variant not specified [RCV000517626] Chr1:16052300 [GRCh38]
Chr1:16378795 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.13(chr1:16358989-16381893)x3 copy number gain See cases [RCV000446482] Chr1:16358989..16381893 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.13(chr1:16372151-16384554)x3 copy number gain See cases [RCV000446662] Chr1:16372151..16384554 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.577-5C>T single nucleotide variant Bartter disease type 3 [RCV001578908]|Bartter disease type 4B [RCV001578907]|not provided [RCV000710105]|not specified [RCV000417959] Chr1:16048499 [GRCh38]
Chr1:16374994 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000085.5(CLCNKB):c.359G>T (p.Gly120Val) single nucleotide variant not provided [RCV000438277] Chr1:16047905 [GRCh38]
Chr1:16374400 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_000085.5(CLCNKB):c.876T>C (p.Cys292=) single nucleotide variant Bartter disease type 3 [RCV001579035]|Bartter disease type 4B [RCV001579034]|not provided [RCV000710108]|not specified [RCV000427070] Chr1:16049824 [GRCh38]
Chr1:16376319 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16358989-16384554)x3 copy number gain See cases [RCV000447999] Chr1:16358989..16384554 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16372151-16390104)x3 copy number gain See cases [RCV000448890] Chr1:16372151..16390104 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16372151-16384554)x1 copy number loss See cases [RCV000448251] Chr1:16372151..16384554 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16372151-16381893)x3 copy number gain See cases [RCV000447926] Chr1:16372151..16381893 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16350393-16381893)x3 copy number gain See cases [RCV000448969] Chr1:16350393..16381893 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1 copy number loss See cases [RCV000447987] Chr1:13178371..19961858 [GRCh37]
Chr1:1p36.21-36.13
pathogenic
NM_000085.5(CLCNKB):c.*271G>C single nucleotide variant not specified [RCV000455305] Chr1:16057187 [GRCh38]
Chr1:16383682 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) single nucleotide variant Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant [RCV001258278]|not provided [RCV000711253]|not specified [RCV000455750] Chr1:16055706 [GRCh38]
Chr1:16382201 [GRCh37]
Chr1:1p36.13
benign|likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg) single nucleotide variant Bartter disease type 3 [RCV001197382]|Proteinuria [RCV000626587]|not provided [RCV001443062] Chr1:16049164 [GRCh38]
Chr1:16375659 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=) single nucleotide variant Bartter disease type 3 [RCV001578911]|Bartter disease type 4B [RCV001578910]|not provided [RCV001722545]|not specified [RCV000600330] Chr1:16048569 [GRCh38]
Chr1:16375064 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1166G>A (p.Trp389Ter) single nucleotide variant not provided [RCV000595618] Chr1:16050987 [GRCh38]
Chr1:16377482 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.656-105G>A single nucleotide variant not provided [RCV001672891]|not specified [RCV000614321] Chr1:16049015 [GRCh38]
Chr1:16375510 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1053+13G>C single nucleotide variant not provided [RCV001672892]|not specified [RCV000612034] Chr1:16050613 [GRCh38]
Chr1:16377108 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.937_940dup (p.Arg314delinsLysTer) duplication Bartter disease type 3 [RCV001197383]|Proteinuria [RCV000626588] Chr1:16049884..16049885 [GRCh38]
Chr1:16376379..16376380 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=) single nucleotide variant Bartter disease type 3 [RCV001578904]|Bartter disease type 4B [RCV001578903]|not provided [RCV000710104]|not specified [RCV000516446] Chr1:16048038 [GRCh38]
Chr1:16374533 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val) single nucleotide variant Bartter disease type 3 [RCV001578913]|Bartter disease type 4B [RCV001578912]|not provided [RCV000710107]|not specified [RCV000517461] Chr1:16049696 [GRCh38]
Chr1:16376191 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly) single nucleotide variant Bartter disease type 3 [RCV000986251]|Bartter disease type 4B [RCV001578909]|not provided [RCV001653945]|not specified [RCV000606374] Chr1:16048568 [GRCh38]
Chr1:16375063 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16217579-16496902)x3 copy number gain not provided [RCV000684552] Chr1:16217579..16496902 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.13(chr1:16344099-16389405)x1 copy number loss not provided [RCV000684553] Chr1:16344099..16389405 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.13(chr1:16344099-16403711)x1 copy number loss not provided [RCV000684554] Chr1:16344099..16403711 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1255A>G (p.Ile419Val) single nucleotide variant not provided [RCV000711247] Chr1:16051505 [GRCh38]
Chr1:16378000 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1308C>T (p.Ile436=) single nucleotide variant not provided [RCV000711248] Chr1:16051720 [GRCh38]
Chr1:16378215 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His) single nucleotide variant not provided [RCV000711249] Chr1:16051787 [GRCh38]
Chr1:16378282 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser) single nucleotide variant not provided [RCV000711250]|not specified [RCV001805830] Chr1:16052230 [GRCh38]
Chr1:16378725 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_000085.5(CLCNKB):c.1455G>A (p.Ala485=) single nucleotide variant not provided [RCV000711251]|not specified [RCV001702713] Chr1:16052244 [GRCh38]
Chr1:16378739 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1254C>T (p.Thr418=) single nucleotide variant not provided [RCV000711246] Chr1:16051504 [GRCh38]
Chr1:16377999 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs) duplication Bartter disease type 3 [RCV000761590]|not provided [RCV000711252] Chr1:16044506..16044507 [GRCh38]
Chr1:16371001..16371002 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.577-19del deletion not provided [RCV000711254] Chr1:16048483 [GRCh38]
Chr1:16374978 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-37T>A single nucleotide variant Bartter disease type 3 [RCV001579225]|Bartter disease type 4B [RCV001579224]|not provided [RCV001647446] Chr1:16056385 [GRCh38]
Chr1:16382880 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.867-32G>A single nucleotide variant Bartter disease type 3 [RCV001579033]|Bartter disease type 4B [RCV001579032]|not provided [RCV001615339] Chr1:16049783 [GRCh38]
Chr1:16376278 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.968+47T>C single nucleotide variant Bartter disease type 3 [RCV001579037]|Bartter disease type 4B [RCV001579036]|not provided [RCV001615340] Chr1:16049963 [GRCh38]
Chr1:16376458 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant Bartter disease type 3 [RCV001579093]|Bartter disease type 4B [RCV001579092]|not provided [RCV001685541] Chr1:16045508 [GRCh38]
Chr1:16372003 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.13(chr1:16336654-16377139)x3 copy number gain not provided [RCV000736411] Chr1:16336654..16377139 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16357147-16389026)x3 copy number gain not provided [RCV000736422] Chr1:16357147..16389026 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16358248-16382003)x4 copy number gain not provided [RCV000736424] Chr1:16358248..16382003 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16358248-16382966)x1 copy number loss not provided [RCV000736425] Chr1:16358248..16382966 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16358932-16383605)x3 copy number gain not provided [RCV000736426] Chr1:16358932..16383605 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16348412-16377108)x3 copy number gain not provided [RCV000736418] Chr1:16348412..16377108 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16352547-16370851)x1 copy number loss not provided [RCV000736419] Chr1:16352547..16370851 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16357147-16387573)x3 copy number gain not provided [RCV000736421] Chr1:16357147..16387573 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16357733-16394859)x3 copy number gain not provided [RCV000736423] Chr1:16357733..16394859 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16346507-16389026)x3 copy number gain not provided [RCV000736414] Chr1:16346507..16389026 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16359051-16382003)x3 copy number gain not provided [RCV000748915] Chr1:16359051..16382003 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16360279-16383267)x3 copy number gain not provided [RCV000748916] Chr1:16360279..16383267 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16360487-16380582)x3 copy number gain not provided [RCV000748919] Chr1:16360487..16380582 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16360706-16384499)x3 copy number gain not provided [RCV000748920] Chr1:16360706..16384499 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16360765-16380582)x3 copy number gain not provided [RCV000748921] Chr1:16360765..16380582 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16360814-16383267)x3 copy number gain not provided [RCV000748922] Chr1:16360814..16383267 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16367339-16380582)x3 copy number gain not provided [RCV000748923] Chr1:16367339..16380582 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16367339-16382003)x3 copy number gain not provided [RCV000748924] Chr1:16367339..16382003 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16367339-16382966)x3 copy number gain not provided [RCV000748925] Chr1:16367339..16382966 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16367339-16382966)x1 copy number loss not provided [RCV000748926] Chr1:16367339..16382966 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16367339-16384499)x3 copy number gain not provided [RCV000748927] Chr1:16367339..16384499 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16367339-16389026)x3 copy number gain not provided [RCV000748928] Chr1:16367339..16389026 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16368324-16377108)x3 copy number gain not provided [RCV000748929] Chr1:16368324..16377108 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16370314-16383267)x3 copy number gain not provided [RCV000748930] Chr1:16370314..16383267 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.498+117A>G single nucleotide variant not provided [RCV001668111] Chr1:16048161 [GRCh38]
Chr1:16374656 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1297+51A>G single nucleotide variant not provided [RCV001691445] Chr1:16051598 [GRCh38]
Chr1:16378093 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-7-240C>T single nucleotide variant not provided [RCV001646076] Chr1:16044246 [GRCh38]
Chr1:16370741 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-8+289T>G single nucleotide variant not provided [RCV001612706] Chr1:16044169 [GRCh38]
Chr1:16370664 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+92T>C single nucleotide variant not provided [RCV001648722] Chr1:16052503 [GRCh38]
Chr1:16378998 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.229+101dup duplication not provided [RCV001566206] Chr1:16045779..16045780 [GRCh38]
Chr1:16372274..16372275 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.866+35A>T single nucleotide variant Bartter disease type 3 [RCV001579029]|Bartter disease type 4B [RCV001578914]|not provided [RCV001685534] Chr1:16049737 [GRCh38]
Chr1:16376232 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.866+47del deletion Bartter disease type 3 [RCV001579031]|Bartter disease type 4B [RCV001579030]|not provided [RCV001685537] Chr1:16049744 [GRCh38]
Chr1:16376239 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-40A>G single nucleotide variant Bartter disease type 3 [RCV001579223]|Bartter disease type 4B [RCV001579044]|not provided [RCV001638178] Chr1:16056382 [GRCh38]
Chr1:16382877 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.2017-28G>C single nucleotide variant Bartter disease type 3 [RCV001579227]|Bartter disease type 4B [RCV001579226]|not provided [RCV001694134] Chr1:16056841 [GRCh38]
Chr1:16383336 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.*37A>C single nucleotide variant Bartter disease type 3 [RCV001579231]|Bartter disease type 4B [RCV001579230]|not provided [RCV001720330] Chr1:16056953 [GRCh38]
Chr1:16383448 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.968+1G>A single nucleotide variant not provided [RCV001703393] Chr1:16049917 [GRCh38]
Chr1:16376412 [GRCh37]
Chr1:1p36.13
pathogenic|likely pathogenic
NM_000085.5(CLCNKB):c.101-181C>G single nucleotide variant not provided [RCV001708796] Chr1:16045377 [GRCh38]
Chr1:16371872 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.577-27T>G single nucleotide variant not provided [RCV001644387] Chr1:16048477 [GRCh38]
Chr1:16374972 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) single nucleotide variant Bartter disease type 3 [RCV000986254]|not provided [RCV001576355] Chr1:16049858 [GRCh38]
Chr1:16376353 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV000968511]|not specified [RCV001289389] Chr1:16049659 [GRCh38]
Chr1:16376154 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.2055C>T (p.Ala685=) single nucleotide variant not provided [RCV000967908] Chr1:16056907 [GRCh38]
Chr1:16383402 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.840T>G (p.Pro280=) single nucleotide variant not provided [RCV000901006] Chr1:16049676 [GRCh38]
Chr1:16376171 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.816G>A (p.Arg272=) single nucleotide variant not provided [RCV000926417] Chr1:16049652 [GRCh38]
Chr1:16376147 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.869G>T (p.Gly290Val) single nucleotide variant not provided [RCV000915571] Chr1:16049817 [GRCh38]
Chr1:16376312 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.762G>A (p.Ala254=) single nucleotide variant not provided [RCV000973656] Chr1:16049226 [GRCh38]
Chr1:16375721 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_000085.5(CLCNKB):c.1930-6A>G single nucleotide variant not provided [RCV000885115] Chr1:16056416 [GRCh38]
Chr1:16382911 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1527C>T (p.Asn509=) single nucleotide variant not provided [RCV000968512]|not specified [RCV001289388] Chr1:16052316 [GRCh38]
Chr1:16378811 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.52C>T (p.Leu18=) single nucleotide variant not provided [RCV000919653] Chr1:16044544 [GRCh38]
Chr1:16371039 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.957G>C (p.Leu319=) single nucleotide variant not provided [RCV000903160] Chr1:16049905 [GRCh38]
Chr1:16376400 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.231G>A (p.Ala77=) single nucleotide variant not provided [RCV000898676] Chr1:16046536 [GRCh38]
Chr1:16373031 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.12T>G (p.Phe4Leu) single nucleotide variant not provided [RCV000968510]|not specified [RCV001289387] Chr1:16044504 [GRCh38]
Chr1:16370999 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.392C>T (p.Ala131Val) single nucleotide variant not provided [RCV000924221] Chr1:16047938 [GRCh38]
Chr1:16374433 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.615G>T (p.Ala205=) single nucleotide variant not provided [RCV000882814] Chr1:16048542 [GRCh38]
Chr1:16375037 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile) single nucleotide variant not provided [RCV000961256] Chr1:16046615 [GRCh38]
Chr1:16373110 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_000085.5(CLCNKB):c.1569C>T (p.Thr523=) single nucleotide variant not provided [RCV000880712] Chr1:16052358 [GRCh38]
Chr1:16378853 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.641_642delinsGC (p.Ala214Gly) indel not provided [RCV000972058] Chr1:16048568..16048569 [GRCh38]
Chr1:16375063..16375064 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.968+9C>T single nucleotide variant not provided [RCV000895550] Chr1:16049925 [GRCh38]
Chr1:16376420 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs) deletion Bartter disease type 3 [RCV000791188] Chr1:16052264 [GRCh38]
Chr1:16378759 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) single nucleotide variant Bartter disease type 3 [RCV000986255]|Bartter disease type 3 [RCV001328286] Chr1:16051721 [GRCh38]
Chr1:16378216 [GRCh37]
Chr1:1p36.13
pathogenic|uncertain significance
NM_000085.5(CLCNKB):c.656-31del deletion Bartter disease type 3 [RCV000791187]|not specified [RCV001169945] Chr1:16049089 [GRCh38]
Chr1:16375584 [GRCh37]
Chr1:1p36.13
pathogenic|uncertain significance
NM_000085.5(CLCNKB):c.1756+126G>A single nucleotide variant not provided [RCV001643410] Chr1:16053898 [GRCh38]
Chr1:16380393 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.510G>C (p.Val170=) single nucleotide variant not provided [RCV000958812] Chr1:16048354 [GRCh38]
Chr1:16374849 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) single nucleotide variant Bartter disease type 3 [RCV000986253] Chr1:16049172 [GRCh38]
Chr1:16375667 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) single nucleotide variant Bartter disease type 3 [RCV000986256] Chr1:16051812 [GRCh38]
Chr1:16378307 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_000085.5(CLCNKB):c.968+107_968+108insGCCATTATTTTTT insertion not provided [RCV001544993] Chr1:16050022..16050023 [GRCh38]
Chr1:16376517..16376518 [GRCh37]
Chr1:1p36.13
likely benign
GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1 copy number loss not provided [RCV000847705] Chr1:16096742..16725355 [GRCh37]
Chr1:1p36.21-36.13
uncertain significance
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) single nucleotide variant Bartter disease type 3 [RCV000986252]|not provided [RCV001858635] Chr1:16049137 [GRCh38]
Chr1:16375632 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1729G>A (p.Ala577Thr) single nucleotide variant Bartter disease type 3 [RCV001196974]|not provided [RCV002069282] Chr1:16053745 [GRCh38]
Chr1:16380240 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) deletion Bartter disease type 3 [RCV001196696] Chr1:16051801 [GRCh38]
Chr1:16378296 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1929+293C>T single nucleotide variant not provided [RCV001568965] Chr1:16056051 [GRCh38]
Chr1:16382546 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1623-101C>T single nucleotide variant not provided [RCV001548291] Chr1:16053538 [GRCh38]
Chr1:16380033 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACACAT insertion not provided [RCV001680814] Chr1:16044378..16044379 [GRCh38]
Chr1:16370873..16370874 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+267C>T single nucleotide variant not provided [RCV001638691] Chr1:16052678 [GRCh38]
Chr1:16379173 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1227+55T>G single nucleotide variant not provided [RCV001659567] Chr1:16051103 [GRCh38]
Chr1:16377598 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+39C>T single nucleotide variant not provided [RCV001635992] Chr1:16052450 [GRCh38]
Chr1:16378945 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1757-114C>T single nucleotide variant not provided [RCV001725348] Chr1:16055321 [GRCh38]
Chr1:16381816 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+102C>T single nucleotide variant not provided [RCV001660794] Chr1:16052513 [GRCh38]
Chr1:16379008 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1054-7G>A single nucleotide variant not provided [RCV001598418] Chr1:16050868 [GRCh38]
Chr1:16377363 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.230-119G>A single nucleotide variant not provided [RCV001690770] Chr1:16046416 [GRCh38]
Chr1:16372911 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1756+70G>A single nucleotide variant not provided [RCV001708807] Chr1:16053842 [GRCh38]
Chr1:16380337 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.358+44_358+46del deletion not provided [RCV001688623] Chr1:16046705..16046707 [GRCh38]
Chr1:16373200..16373202 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1408+116C>T single nucleotide variant not provided [RCV001651448] Chr1:16051936 [GRCh38]
Chr1:16378431 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.229+99_229+100insC insertion not provided [RCV001534744] Chr1:16045785..16045786 [GRCh38]
Chr1:16372280..16372281 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACACAT insertion not provided [RCV001561581] Chr1:16044378..16044379 [GRCh38]
Chr1:16370873..16370874 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.781+98C>G single nucleotide variant not provided [RCV001691070] Chr1:16049343 [GRCh38]
Chr1:16375838 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1227+61_1227+62insA insertion not provided [RCV001668750] Chr1:16051109..16051110 [GRCh38]
Chr1:16377604..16377605 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.968+83C>G single nucleotide variant not provided [RCV001709079] Chr1:16049999 [GRCh38]
Chr1:16376494 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.2016+34A>G single nucleotide variant not provided [RCV001649600] Chr1:16056542 [GRCh38]
Chr1:16383037 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.2017-104A>G single nucleotide variant not provided [RCV001689106] Chr1:16056765 [GRCh38]
Chr1:16383260 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+229G>A single nucleotide variant not provided [RCV001620411] Chr1:16052640 [GRCh38]
Chr1:16379135 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.2017-97A>G single nucleotide variant not provided [RCV001616835] Chr1:16056772 [GRCh38]
Chr1:16383267 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.229+102del deletion not provided [RCV001639923] Chr1:16045788 [GRCh38]
Chr1:16372283 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1717T>C (p.Ser573Pro) single nucleotide variant not provided [RCV001551956] Chr1:16053733 [GRCh38]
Chr1:16380228 [GRCh37]
Chr1:1p36.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000085.5(CLCNKB):c.1757-31G>A single nucleotide variant not provided [RCV001552053] Chr1:16055404 [GRCh38]
Chr1:16381899 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.2016+81G>A single nucleotide variant not provided [RCV001614453] Chr1:16056589 [GRCh38]
Chr1:16383084 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1227+61dup duplication not provided [RCV001676905] Chr1:16051103..16051104 [GRCh38]
Chr1:16377598..16377599 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-7-247_-7-246del deletion not provided [RCV001614448] Chr1:16044239..16044240 [GRCh38]
Chr1:16370734..16370735 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1409-44C>G single nucleotide variant not provided [RCV001621191] Chr1:16052154 [GRCh38]
Chr1:16378649 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.359-70A>G single nucleotide variant Bartter disease type 3 [RCV001578902]|Bartter disease type 4B [RCV001578901]|not provided [RCV001694127] Chr1:16047835 [GRCh38]
Chr1:16374330 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile) single nucleotide variant not provided [RCV000974032] Chr1:16052359 [GRCh38]
Chr1:16378854 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_000085.5(CLCNKB):c.348C>T (p.Pro116=) single nucleotide variant not provided [RCV000883560] Chr1:16046653 [GRCh38]
Chr1:16373148 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu) single nucleotide variant not provided [RCV000885576] Chr1:16045629 [GRCh38]
Chr1:16372124 [GRCh37]
Chr1:1p36.13
likely benign|conflicting interpretations of pathogenicity
NM_000085.5(CLCNKB):c.499-4G>T single nucleotide variant not provided [RCV000941700] Chr1:16048339 [GRCh38]
Chr1:16374834 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.794C>G (p.Ser265Cys) single nucleotide variant not provided [RCV000968971] Chr1:16049630 [GRCh38]
Chr1:16376125 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.222G>A (p.Val74=) single nucleotide variant not provided [RCV000918425] Chr1:16045679 [GRCh38]
Chr1:16372174 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.236A>G (p.Gln79Arg) single nucleotide variant Bartter disease type 3 [RCV001196695] Chr1:16046541 [GRCh38]
Chr1:16373036 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1971T>C (p.Phe657=) single nucleotide variant not provided [RCV000889846] Chr1:16056463 [GRCh38]
Chr1:16382958 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1689A>G (p.Pro563=) single nucleotide variant not provided [RCV000889877] Chr1:16053705 [GRCh38]
Chr1:16380200 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) single nucleotide variant Bartter disease type 3 [RCV000986257] Chr1:16052349 [GRCh38]
Chr1:16378844 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.-7-108_-7-107insACACACACAT insertion not provided [RCV001659507] Chr1:16044378..16044379 [GRCh38]
Chr1:16370873..16370874 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.230-59G>A single nucleotide variant Bartter disease type 3 [RCV001579095]|Bartter disease type 4B [RCV001579094]|not provided [RCV001676063] Chr1:16046476 [GRCh38]
Chr1:16372971 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-126G>C single nucleotide variant not provided [RCV001721827] Chr1:16056296 [GRCh38]
Chr1:16382791 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1929+252T>C single nucleotide variant not provided [RCV001721876] Chr1:16056010 [GRCh38]
Chr1:16382505 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) single nucleotide variant Bartter disease type 3 [RCV001195134]|not provided [RCV000991835] Chr1:16051737 [GRCh38]
Chr1:16378232 [GRCh37]
Chr1:1p36.13
pathogenic|likely pathogenic
NM_000085.5(CLCNKB):c.969-195C>G single nucleotide variant not provided [RCV001721895] Chr1:16050321 [GRCh38]
Chr1:16376816 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1623-311G>A single nucleotide variant not provided [RCV001682110] Chr1:16053328 [GRCh38]
Chr1:16379823 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.*181G>A single nucleotide variant not provided [RCV001550609] Chr1:16057097 [GRCh38]
Chr1:16383592 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.*25G>A single nucleotide variant not provided [RCV001569350] Chr1:16056941 [GRCh38]
Chr1:16383436 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1622+110G>A single nucleotide variant not provided [RCV001651433] Chr1:16052521 [GRCh38]
Chr1:16379016 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+45T>C single nucleotide variant not provided [RCV001677653] Chr1:16052456 [GRCh38]
Chr1:16378951 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16370960-16383841) copy number loss Bartter disease type 3 [RCV001535964] Chr1:16370960..16383841 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1622+35del deletion not provided [RCV001717978] Chr1:16052442 [GRCh38]
Chr1:16378937 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+85G>A single nucleotide variant not provided [RCV001688784] Chr1:16052496 [GRCh38]
Chr1:16378991 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1297+57G>C single nucleotide variant not provided [RCV001639315] Chr1:16051604 [GRCh38]
Chr1:16378099 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.969-219C>G single nucleotide variant not provided [RCV001688263] Chr1:16050297 [GRCh38]
Chr1:16376792 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.230-222G>A single nucleotide variant not provided [RCV001620337] Chr1:16046313 [GRCh38]
Chr1:16372808 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1408+16G>C single nucleotide variant not provided [RCV001685665] Chr1:16051836 [GRCh38]
Chr1:16378331 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+32G>A single nucleotide variant not provided [RCV001661114] Chr1:16052443 [GRCh38]
Chr1:16378938 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.2017-29dup duplication not provided [RCV001642043] Chr1:16056834..16056835 [GRCh38]
Chr1:16383329..16383330 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1756+315C>T single nucleotide variant not provided [RCV001721836] Chr1:16054087 [GRCh38]
Chr1:16380582 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1756+221G>A single nucleotide variant not provided [RCV001721842] Chr1:16053993 [GRCh38]
Chr1:16380488 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1757-138T>A single nucleotide variant not provided [RCV001721852] Chr1:16055297 [GRCh38]
Chr1:16381792 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-86T>A single nucleotide variant not provided [RCV001721886] Chr1:16056336 [GRCh38]
Chr1:16382831 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.969-180C>T single nucleotide variant not provided [RCV001656741] Chr1:16050336 [GRCh38]
Chr1:16376831 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-8+302G>C single nucleotide variant not provided [RCV001677208] Chr1:16044182 [GRCh38]
Chr1:16370677 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1929+117T>C single nucleotide variant not provided [RCV001596603] Chr1:16055875 [GRCh38]
Chr1:16382370 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.968+36G>A single nucleotide variant not provided [RCV001720448] Chr1:16049952 [GRCh38]
Chr1:16376447 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+100C>T single nucleotide variant not provided [RCV001695219] Chr1:16052511 [GRCh38]
Chr1:16379006 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.781+133C>T single nucleotide variant not provided [RCV001669113] Chr1:16049378 [GRCh38]
Chr1:16375873 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1297+58C>A single nucleotide variant not provided [RCV001613946] Chr1:16051605 [GRCh38]
Chr1:16378100 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+116_1622+117insGGAGGGGCTG microsatellite not provided [RCV001683889] Chr1:16052520..16052521 [GRCh38]
Chr1:16379015..16379016 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.498+83C>G single nucleotide variant Bartter disease type 3 [RCV001578906]|Bartter disease type 4B [RCV001578905]|not provided [RCV001541640] Chr1:16048127 [GRCh38]
Chr1:16374622 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1408+24C>G single nucleotide variant not provided [RCV001648006] Chr1:16051844 [GRCh38]
Chr1:16378339 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.359-232G>A single nucleotide variant not provided [RCV001648012] Chr1:16047673 [GRCh38]
Chr1:16374168 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.969-292A>G single nucleotide variant not provided [RCV001614363] Chr1:16050224 [GRCh38]
Chr1:16376719 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1408+180G>A single nucleotide variant not provided [RCV001649153] Chr1:16052000 [GRCh38]
Chr1:16378495 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.655+152del deletion not provided [RCV001582088] Chr1:16048734 [GRCh38]
Chr1:16375229 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1228-38A>G single nucleotide variant not provided [RCV001678945] Chr1:16051440 [GRCh38]
Chr1:16377935 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.655+55C>T single nucleotide variant not provided [RCV001644530] Chr1:16048637 [GRCh38]
Chr1:16375132 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-7-82G>A single nucleotide variant not provided [RCV001692607] Chr1:16044404 [GRCh38]
Chr1:16370899 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.866+33_866+34insT insertion not provided [RCV001690489] Chr1:16049735..16049736 [GRCh38]
Chr1:16376230..16376231 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+25A>G single nucleotide variant not provided [RCV001648683] Chr1:16052436 [GRCh38]
Chr1:16378931 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.968+148A>G single nucleotide variant not provided [RCV001652189] Chr1:16050064 [GRCh38]
Chr1:16376559 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.359-215G>A single nucleotide variant not provided [RCV001614800] Chr1:16047690 [GRCh38]
Chr1:16374185 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-239C>G single nucleotide variant not provided [RCV001679495] Chr1:16056183 [GRCh38]
Chr1:16382678 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.100+195G>A single nucleotide variant not provided [RCV001574367] Chr1:16044787 [GRCh38]
Chr1:16371282 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.*104C>T single nucleotide variant not provided [RCV001540723] Chr1:16057020 [GRCh38]
Chr1:16383515 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.782-75G>C single nucleotide variant not provided [RCV001666751] Chr1:16049543 [GRCh38]
Chr1:16376038 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16372179-16388605) copy number loss Bartter disease type 3 [RCV001195133] Chr1:16372179..16388605 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1092C>T (p.Asn364=) single nucleotide variant not provided [RCV001200328] Chr1:16050913 [GRCh38]
Chr1:16377408 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter) single nucleotide variant Bartter disease type 3 [RCV001849489]|Epilepsy, familial focal, with variable foci 1 [RCV001251481] Chr1:16045683 [GRCh38]
Chr1:16372178 [GRCh37]
Chr1:1p36.13
pathogenic|uncertain significance
NM_000085.5(CLCNKB):c.2017-16C>T single nucleotide variant Bartter disease type 3 [RCV001579229]|Bartter disease type 4B [RCV001579228]|not provided [RCV001615237]|not specified [RCV001529597] Chr1:16056853 [GRCh38]
Chr1:16383348 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 copy number loss not provided [RCV001259568] Chr1:16041431..21295864 [GRCh37]
Chr1:1p36.21-36.12
pathogenic
NM_000085.5(CLCNKB):c.1006G>A (p.Ala336Thr) single nucleotide variant Bartter disease type 3 [RCV001280895] Chr1:16050553 [GRCh38]
Chr1:16377048 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5:c.(?_-1)_(*1_?)del deletion Bartter disease type 3 [RCV001281334] Chr1:1p36.13 pathogenic
NM_000085.5(CLCNKB):c.656-14A>T single nucleotide variant not provided [RCV001537526] Chr1:16049106 [GRCh38]
Chr1:16375601 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg) single nucleotide variant Bartter disease type 3 [RCV001281172] Chr1:16051520 [GRCh38]
Chr1:16378015 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer) deletion not provided [RCV001280722] Chr1:16047921 [GRCh38]
Chr1:16374416 [GRCh37]
Chr1:1p36.13
likely pathogenic
NM_000085.5(CLCNKB):c.891C>A (p.Ser297Arg) single nucleotide variant not provided [RCV001289390] Chr1:16049839 [GRCh38]
Chr1:16376334 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.88C>T (p.Arg30Ter) single nucleotide variant Bartter syndrome type 3 [RCV001336636] Chr1:16044580 [GRCh38]
Chr1:16371075 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1623-90G>A single nucleotide variant not provided [RCV001538673] Chr1:16053549 [GRCh38]
Chr1:16380044 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.655+146C>A single nucleotide variant not provided [RCV001538755] Chr1:16048728 [GRCh38]
Chr1:16375223 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.969-58C>T single nucleotide variant not provided [RCV001539827] Chr1:16050458 [GRCh38]
Chr1:16376953 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-187C>T single nucleotide variant not provided [RCV001643657] Chr1:16056235 [GRCh38]
Chr1:16382730 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.101-121A>C single nucleotide variant not provided [RCV001541244] Chr1:16045437 [GRCh38]
Chr1:16371932 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.274C>T (p.Arg92Trp) single nucleotide variant Bartter disease type 3 [RCV001535929] Chr1:16046579 [GRCh38]
Chr1:16373074 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1930-199T>C single nucleotide variant not provided [RCV001690492] Chr1:16056223 [GRCh38]
Chr1:16382718 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1756+293G>A single nucleotide variant not provided [RCV001655262] Chr1:16054065 [GRCh38]
Chr1:16380560 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1183C>T (p.Arg395Trp) single nucleotide variant not provided [RCV001679394] Chr1:16051004 [GRCh38]
Chr1:16377499 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+48G>A single nucleotide variant not provided [RCV001709161] Chr1:16052459 [GRCh38]
Chr1:16378954 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-83T>A single nucleotide variant not provided [RCV001675403] Chr1:16056339 [GRCh38]
Chr1:16382834 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.358+124A>G single nucleotide variant not provided [RCV001614814] Chr1:16046787 [GRCh38]
Chr1:16373282 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1757-208C>T single nucleotide variant not provided [RCV001655558] Chr1:16055227 [GRCh38]
Chr1:16381722 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.782-147G>A single nucleotide variant not provided [RCV001610994] Chr1:16049471 [GRCh38]
Chr1:16375966 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+146C>G single nucleotide variant not provided [RCV001695330] Chr1:16052557 [GRCh38]
Chr1:16379052 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1622+74G>C single nucleotide variant not provided [RCV001674295] Chr1:16052485 [GRCh38]
Chr1:16378980 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-268T>C single nucleotide variant not provided [RCV001649801] Chr1:16056154 [GRCh38]
Chr1:16382649 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1845+68C>T single nucleotide variant not provided [RCV001609329] Chr1:16055591 [GRCh38]
Chr1:16382086 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1228-103C>T single nucleotide variant not provided [RCV001673576] Chr1:16051375 [GRCh38]
Chr1:16377870 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.655+133G>A single nucleotide variant not provided [RCV001715421] Chr1:16048715 [GRCh38]
Chr1:16375210 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1930-87_1930-85del deletion not provided [RCV001537241] Chr1:16056333..16056335 [GRCh38]
Chr1:16382828..16382830 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-7-269T>C single nucleotide variant not provided [RCV001716593] Chr1:16044217 [GRCh38]
Chr1:16370712 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.656-261C>T single nucleotide variant not provided [RCV001673990] Chr1:16048859 [GRCh38]
Chr1:16375354 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.229+102T>G single nucleotide variant not provided [RCV001693734] Chr1:16045788 [GRCh38]
Chr1:16372283 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.498+51C>T single nucleotide variant not provided [RCV001710236] Chr1:16048095 [GRCh38]
Chr1:16374590 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1756+136A>T single nucleotide variant not provided [RCV001609771] Chr1:16053908 [GRCh38]
Chr1:16380403 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.-7-190C>G single nucleotide variant not provided [RCV001617096] Chr1:16044296 [GRCh38]
Chr1:16370791 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1757-212T>C single nucleotide variant not provided [RCV001536488] Chr1:16055223 [GRCh38]
Chr1:16381718 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1408+188_1409-186dup duplication not provided [RCV001762894] Chr1:16052004..16052005 [GRCh38]
Chr1:16378499..16378500 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1163G>A (p.Trp388Ter) single nucleotide variant not provided [RCV001780513] Chr1:16050984 [GRCh38]
Chr1:16377479 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.508G>A (p.Val170Met) single nucleotide variant not provided [RCV001780514] Chr1:16048352 [GRCh38]
Chr1:16374847 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1227+23G>A single nucleotide variant not provided [RCV001753291] Chr1:16051071 [GRCh38]
Chr1:16377566 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.806C>G (p.Thr269Ser) single nucleotide variant not specified [RCV001806774] Chr1:16049642 [GRCh38]
Chr1:16376137 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.652A>C (p.Ser218Arg) single nucleotide variant Bartter disease type 3 [RCV001808864] Chr1:16048579 [GRCh38]
Chr1:16375074 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1306A>T (p.Ile436Phe) single nucleotide variant not specified [RCV001806773] Chr1:16051718 [GRCh38]
Chr1:16378213 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1408G>T (p.Gly470Trp) single nucleotide variant Bartter disease type 3 [RCV001823473] Chr1:16051820 [GRCh38]
Chr1:16378315 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.889A>G (p.Ser297Gly) single nucleotide variant not provided [RCV001874895] Chr1:16049837 [GRCh38]
Chr1:16376332 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1612C>T (p.Arg538Cys) single nucleotide variant not provided [RCV001971322] Chr1:16052401 [GRCh38]
Chr1:16378896 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1477G>A (p.Gly493Ser) single nucleotide variant not provided [RCV001864379] Chr1:16052266 [GRCh38]
Chr1:16378761 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13
pathogenic
NM_000085.5(CLCNKB):c.747G>A (p.Met249Ile) single nucleotide variant not provided [RCV001948871] Chr1:16049211 [GRCh38]
Chr1:16375706 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.98G>A (p.Arg33Gln) single nucleotide variant not provided [RCV002004553] Chr1:16044590 [GRCh38]
Chr1:16371085 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.295T>C (p.Tyr99His) single nucleotide variant not provided [RCV001948666] Chr1:16046600 [GRCh38]
Chr1:16373095 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.774C>A (p.Ser258Arg) single nucleotide variant not provided [RCV001893691] Chr1:16049238 [GRCh38]
Chr1:16375733 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.309_310insAG (p.Val104fs) insertion not provided [RCV001890269] Chr1:16046614..16046615 [GRCh38]
Chr1:16373109..16373110 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.1021C>T (p.Pro341Ser) single nucleotide variant not provided [RCV002041412] Chr1:16050568 [GRCh38]
Chr1:16377063 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.577-6C>T single nucleotide variant not provided [RCV001916580] Chr1:16048498 [GRCh38]
Chr1:16374993 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1630C>T (p.Arg544Cys) single nucleotide variant not provided [RCV002038635] Chr1:16053646 [GRCh38]
Chr1:16380141 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1574T>C (p.Ile525Thr) single nucleotide variant not provided [RCV002013649] Chr1:16052363 [GRCh38]
Chr1:16378858 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.962C>A (p.Ala321Asp) single nucleotide variant not provided [RCV002015067] Chr1:16049910 [GRCh38]
Chr1:16376405 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.280C>A (p.Leu94Ile) single nucleotide variant not provided [RCV002037520] Chr1:16046585 [GRCh38]
Chr1:16373080 [GRCh37]
Chr1:1p36.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000085.5(CLCNKB):c.1633G>T (p.Val545Leu) single nucleotide variant not provided [RCV001976832] Chr1:16053649 [GRCh38]
Chr1:16380144 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.232C>T (p.His78Tyr) single nucleotide variant not provided [RCV001899503] Chr1:16046537 [GRCh38]
Chr1:16373032 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.385A>G (p.Met129Val) single nucleotide variant not provided [RCV001971860] Chr1:16047931 [GRCh38]
Chr1:16374426 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1784G>A (p.Arg595Gln) single nucleotide variant not provided [RCV001867766] Chr1:16055462 [GRCh38]
Chr1:16381957 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1051C>T (p.Arg351Trp) single nucleotide variant not provided [RCV001951267] Chr1:16050598 [GRCh38]
Chr1:16377093 [GRCh37]
Chr1:1p36.13
pathogenic
NM_000085.5(CLCNKB):c.320C>T (p.Ser107Phe) single nucleotide variant not provided [RCV001902957] Chr1:16046625 [GRCh38]
Chr1:16373120 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1667C>T (p.Thr556Ile) single nucleotide variant not provided [RCV001907504] Chr1:16053683 [GRCh38]
Chr1:16380178 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1623T>C (p.Gly541=) single nucleotide variant not provided [RCV001885866] Chr1:16053639 [GRCh38]
Chr1:16380134 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.551G>T (p.Arg184Leu) single nucleotide variant not provided [RCV002048589] Chr1:16048395 [GRCh38]
Chr1:16374890 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1357G>A (p.Val453Met) single nucleotide variant not provided [RCV001879317] Chr1:16051769 [GRCh38]
Chr1:16378264 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1512G>A (p.Ala504=) single nucleotide variant not provided [RCV002030013] Chr1:16052301 [GRCh38]
Chr1:16378796 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.529G>T (p.Ala177Ser) single nucleotide variant not provided [RCV001877269] Chr1:16048373 [GRCh38]
Chr1:16374868 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.230C>T (p.Ala77Val) single nucleotide variant not provided [RCV002036127] Chr1:16046535 [GRCh38]
Chr1:16373030 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1463C>A (p.Ala488Asp) single nucleotide variant not provided [RCV001885976] Chr1:16052252 [GRCh38]
Chr1:16378747 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.101G>A (p.Gly34Asp) single nucleotide variant not provided [RCV001935343] Chr1:16045558 [GRCh38]
Chr1:16372053 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_000085.5(CLCNKB):c.1080G>A (p.Ser360=) single nucleotide variant not provided [RCV002075077] Chr1:16050901 [GRCh38]
Chr1:16377396 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1408+13G>T single nucleotide variant not provided [RCV002106025] Chr1:16051833 [GRCh38]
Chr1:16378328 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.873C>T (p.Leu291=) single nucleotide variant not provided [RCV002206326] Chr1:16049821 [GRCh38]
Chr1:16376316 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1797G>T (p.Leu599=) single nucleotide variant not provided [RCV002209190] Chr1:16055475 [GRCh38]
Chr1:16381970 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.499-18C>G single nucleotide variant not provided [RCV002087201] Chr1:16048325 [GRCh38]
Chr1:16374820 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1929+5C>T single nucleotide variant not provided [RCV002187034] Chr1:16055763 [GRCh38]
Chr1:16382258 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1227+11T>C single nucleotide variant not provided [RCV002116539] Chr1:16051059 [GRCh38]
Chr1:16377554 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.2016+18del deletion not provided [RCV002171012] Chr1:16056522 [GRCh38]
Chr1:16383017 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.225C>G (p.Val75=) single nucleotide variant not provided [RCV002107033] Chr1:16045682 [GRCh38]
Chr1:16372177 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1551C>G (p.Pro517=) single nucleotide variant not provided [RCV002197341] Chr1:16052340 [GRCh38]
Chr1:16378835 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.656-20G>C single nucleotide variant not provided [RCV002092377] Chr1:16049100 [GRCh38]
Chr1:16375595 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.282C>T (p.Leu94=) single nucleotide variant not provided [RCV002112373] Chr1:16046587 [GRCh38]
Chr1:16373082 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.2016+13C>T single nucleotide variant not provided [RCV002133293] Chr1:16056521 [GRCh38]
Chr1:16383016 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.2016+19C>T single nucleotide variant not provided [RCV002196147] Chr1:16056527 [GRCh38]
Chr1:16383022 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1756+10C>T single nucleotide variant not provided [RCV002133864] Chr1:16053782 [GRCh38]
Chr1:16380277 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1149C>T (p.Asp383=) single nucleotide variant not provided [RCV002080411] Chr1:16050970 [GRCh38]
Chr1:16377465 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1053+9C>A single nucleotide variant not provided [RCV002153432] Chr1:16050609 [GRCh38]
Chr1:16377104 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1948C>T (p.Leu650=) single nucleotide variant not provided [RCV002139668] Chr1:16056440 [GRCh38]
Chr1:16382935 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.498+15G>T single nucleotide variant not provided [RCV002217054] Chr1:16048059 [GRCh38]
Chr1:16374554 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.655+17C>T single nucleotide variant not provided [RCV002162815] Chr1:16048599 [GRCh38]
Chr1:16375094 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.782-18A>G single nucleotide variant not provided [RCV002101763] Chr1:16049600 [GRCh38]
Chr1:16376095 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.112T>C (p.Trp38Arg) single nucleotide variant not provided [RCV002135342] Chr1:16045569 [GRCh38]
Chr1:16372064 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1154A>G (p.Gln385Arg) single nucleotide variant not provided [RCV002101849] Chr1:16050975 [GRCh38]
Chr1:16377470 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1452G>A (p.Thr484=) single nucleotide variant not provided [RCV002117707] Chr1:16052241 [GRCh38]
Chr1:16378736 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.358+20G>A single nucleotide variant not provided [RCV002122938] Chr1:16046683 [GRCh38]
Chr1:16373178 [GRCh37]
Chr1:1p36.13
benign
NM_000085.5(CLCNKB):c.1405G>A (p.Ala469Thr) single nucleotide variant not provided [RCV002100208] Chr1:16051817 [GRCh38]
Chr1:16378312 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1192A>G (p.Ile398Val) single nucleotide variant not provided [RCV002184591] Chr1:16051013 [GRCh38]
Chr1:16377508 [GRCh37]
Chr1:1p36.13
likely benign
NM_000085.5(CLCNKB):c.1254_1255inv (p.Ile419Val) inversion not provided [RCV002217293] Chr1:16051504..16051505 [GRCh38]
Chr1:16377999..16378000 [GRCh37]
Chr1:1p36.13
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2027 AgrOrtholog
COSMIC CLCNKB COSMIC
Ensembl Genes ENSG00000184908 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000364819 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364831 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000389344 UniProtKB/TrEMBL
  ENSP00000483866 UniProtKB/TrEMBL
  ENSP00000506733 UniProtKB/Swiss-Prot
  ENSP00000506861 UniProtKB/TrEMBL
  ENSP00000506910 UniProtKB/Swiss-Prot
  ENSP00000507062 UniProtKB/Swiss-Prot
  ENSP00000507430 UniProtKB/TrEMBL
  ENSP00000507652 UniProtKB/TrEMBL
  ENSP00000507937 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000375667 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375679 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431772 UniProtKB/TrEMBL
  ENST00000619181 UniProtKB/TrEMBL
  ENST00000682338 UniProtKB/Swiss-Prot
  ENST00000682793 UniProtKB/Swiss-Prot
  ENST00000682838 UniProtKB/TrEMBL
  ENST00000683578 UniProtKB/TrEMBL
  ENST00000684324 UniProtKB/Swiss-Prot
  ENST00000684545 UniProtKB/Swiss-Prot
  ENST00000684714 UniProtKB/TrEMBL
GTEx ENSG00000184908 GTEx
HGNC ID HGNC:2027 ENTREZGENE
Human Proteome Map CLCNKB Human Proteome Map
InterPro CBS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_volt-gated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl_channel-K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1188 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1188 ENTREZGENE
OMIM 602023 OMIM
  607364 OMIM
  613090 OMIM
Pfam CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage_CLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26554 PharmGKB
PRINTS CLCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLCHANNELKDY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X136_HUMAN UniProtKB/TrEMBL
  A0A804HI21_HUMAN UniProtKB/TrEMBL
  A0A804HJB2_HUMAN UniProtKB/TrEMBL
  A0A804HJU7_HUMAN UniProtKB/TrEMBL
  A8K8H0 ENTREZGENE, UniProtKB/TrEMBL
  CLCKB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T5Q6_HUMAN UniProtKB/TrEMBL
  Q8WW53_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KUY3 UniProtKB/Swiss-Prot
  Q5T5Q7 UniProtKB/Swiss-Prot
  Q5T5Q8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CLCNKB  chloride voltage-gated channel Kb  CLCNKB  chloride channel, voltage-sensitive Kb  Symbol and/or name change 5135510 APPROVED
2012-03-01 CLCNKB  chloride channel, voltage-sensitive Kb  CLCNKB  chloride channel Kb  Symbol and/or name change 5135510 APPROVED