CLCN2 (chloride voltage-gated channel 2) - Rat Genome Database

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Gene: CLCN2 (chloride voltage-gated channel 2) Homo sapiens
Analyze
Symbol: CLCN2
Name: chloride voltage-gated channel 2
RGD ID: 733366
HGNC Page HGNC:2020
Description: Enables voltage-gated chloride channel activity. Involved in regulation of aldosterone biosynthetic process. Located in plasma membrane. Implicated in idiopathic generalized epilepsy 11 and primary hyperaldosteronism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: chloride channel 2; chloride channel protein 2; chloride channel, voltage-sensitive 2; CIC-2; clC-2; CLC2; ECA2; ECA3; EGI11; EGI3; EGMA; EJM6; EJM8; FHA2; FHII; HALD2; LKPAT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh383184,346,185 - 184,361,605 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3184,346,185 - 184,361,650 (-)EnsemblGRCh38hg38GRCh38
GRCh373184,063,973 - 184,079,393 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,547,034 - 185,562,085 (-)NCBINCBI36Build 36hg18NCBI36
Build 343185,547,095 - 185,561,969NCBI
Celera3182,504,875 - 182,520,290 (-)NCBICelera
Cytogenetic Map3q27.1NCBI
HuRef3181,470,404 - 181,485,871 (-)NCBIHuRef
CHM1_13184,028,432 - 184,043,898 (-)NCBICHM1_1
T2T-CHM13v2.03187,155,451 - 187,170,873 (-)NCBIT2T-CHM13v2.0
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
Abnormal circulating renin  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of the mouth  (IAGP)
Action tremor  (IAGP)
Adrenal hyperplasia  (IAGP)
Aggressive behavior  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure on awakening  (IAGP)
Cerebral palsy  (IAGP)
Childhood onset  (IAGP)
Chorioretinal atrophy  (IAGP)
Choroidal neovascularization  (IAGP)
Dexamethasone-suppressible primary hyperaldosteronism  (IAGP)
EEG with polyspike wave complexes  (IAGP)
Epistaxis  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Gait ataxia  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Glucocortocoid-insensitive primary hyperaldosteronism  (IAGP)
Headache  (IAGP)
Hyperaldosteronism  (IAGP)
Hypertension  (IAGP)
Hypokalemia  (IAGP)
Intellectual disability  (IAGP)
Intracranial hemorrhage  (IAGP)
Juvenile onset  (IAGP)
Late young adult onset  (IAGP)
Leukoencephalopathy  (IAGP)
Limb ataxia  (IAGP)
Metabolic alkalosis  (IAGP)
Middle age onset  (IAGP)
Morning myoclonic jerks  (IAGP)
Muscle weakness  (IAGP)
Nausea  (IAGP)
Optic neuropathy  (IAGP)
Photosensitive tonic-clonic seizure  (IAGP)
Retinoschisis  (IAGP)
Secretory adrenocortical adenoma  (IAGP)
Seizure  (IAGP)
Status epilepticus  (IAGP)
Tinnitus  (IAGP)
Typified by incomplete penetrance  (IAGP)
Visual field defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A short CIC-2 mRNA transcript is produced by exon skipping. Chu S, etal., Nucleic Acids Res 1996 Sep 1;24(17):3453-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7795595   PMID:10198195   PMID:10888596   PMID:11073536   PMID:11306429   PMID:11880269   PMID:11976342   PMID:12477932   PMID:12601004   PMID:12843258   PMID:15010473   PMID:15252188  
PMID:15272009   PMID:15388342   PMID:15464978   PMID:15489334   PMID:15505175   PMID:15507145   PMID:15508929   PMID:16003173   PMID:16049054   PMID:16344560   PMID:16469788   PMID:16932951  
PMID:17580110   PMID:17762171   PMID:17882904   PMID:18801843   PMID:19191339   PMID:19232516   PMID:19574231   PMID:19710712   PMID:19711355   PMID:20187760   PMID:21873635   PMID:21956164  
PMID:22321011   PMID:22405205   PMID:22613974   PMID:23275563   PMID:23707145   PMID:23934342   PMID:25323061   PMID:25739457   PMID:26033718   PMID:26496610   PMID:26539602   PMID:26666914  
PMID:26871637   PMID:28424169   PMID:28905383   PMID:29403011   PMID:29403012   PMID:29550812   PMID:29988306   PMID:30021884   PMID:30639242   PMID:31054517   PMID:31996765   PMID:32466489  
PMID:33565032   PMID:33961781   PMID:34070744   PMID:34148308   PMID:36964785  


Genomics

Comparative Map Data
CLCN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383184,346,185 - 184,361,605 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3184,346,185 - 184,361,650 (-)EnsemblGRCh38hg38GRCh38
GRCh373184,063,973 - 184,079,393 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363185,547,034 - 185,562,085 (-)NCBINCBI36Build 36hg18NCBI36
Build 343185,547,095 - 185,561,969NCBI
Celera3182,504,875 - 182,520,290 (-)NCBICelera
Cytogenetic Map3q27.1NCBI
HuRef3181,470,404 - 181,485,871 (-)NCBIHuRef
CHM1_13184,028,432 - 184,043,898 (-)NCBICHM1_1
T2T-CHM13v2.03187,155,451 - 187,170,873 (-)NCBIT2T-CHM13v2.0
Clcn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391620,521,185 - 20,536,496 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1620,521,714 - 20,536,496 (-)EnsemblGRCm39 Ensembl
GRCm381620,702,435 - 20,717,746 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1620,702,964 - 20,717,746 (-)EnsemblGRCm38mm10GRCm38
MGSCv371620,703,039 - 20,716,709 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361620,616,509 - 20,629,657 (-)NCBIMGSCv36mm8
Celera1621,268,322 - 21,281,991 (-)NCBICelera
Cytogenetic Map16A3- B1NCBI
cM Map1612.5NCBI
Clcn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81193,702,382 - 93,716,059 (+)NCBIGRCr8
mRatBN7.21180,197,741 - 80,211,657 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1180,198,153 - 80,211,657 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1188,920,899 - 88,934,364 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01181,574,316 - 81,587,781 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01180,635,378 - 80,648,843 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01182,862,664 - 82,876,165 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1183,883,879 - 83,897,394 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01186,935,748 - 86,969,314 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41182,427,792 - 82,441,293 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11182,485,379 - 82,498,880 (+)NCBI
Celera1179,037,893 - 79,051,394 (+)NCBICelera
Cytogenetic Map11q23NCBI
Clcn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542023,138,605 - 23,152,311 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542023,138,558 - 23,152,462 (+)NCBIChiLan1.0ChiLan1.0
CLCN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22182,219,532 - 182,235,030 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13182,223,590 - 182,239,652 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03181,383,608 - 181,399,200 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13189,865,627 - 189,881,049 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3189,862,489 - 189,881,049 (-)Ensemblpanpan1.1panPan2
CLCN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13417,224,136 - 17,238,755 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3417,223,215 - 17,239,621 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3421,309,705 - 21,324,280 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03417,131,619 - 17,146,202 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3417,131,648 - 17,146,119 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13417,168,519 - 17,183,094 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03417,164,603 - 17,179,167 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03417,393,559 - 17,408,134 (-)NCBIUU_Cfam_GSD_1.0
Clcn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602119,433,596 - 119,447,715 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365785,525,601 - 5,539,472 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365785,525,461 - 5,539,351 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLCN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13122,234,736 - 122,249,867 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113122,234,731 - 122,249,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213131,674,508 - 131,689,583 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLCN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1155,057,687 - 5,073,596 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl155,057,900 - 5,073,184 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606313,835,604 - 13,851,241 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Clcn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473072,228,189 - 72,244,332 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473072,228,912 - 72,242,636 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLCN2
401 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter) single nucleotide variant Familial hyperaldosteronism type II [RCV000515845] Chr3:184356994 [GRCh38]
Chr3:184074782 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg) single nucleotide variant Familial hyperaldosteronism type II [RCV000515901] Chr3:184346710 [GRCh38]
Chr3:184064498 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002481647]|Familial hyperaldosteronism type II [RCV000516109] Chr3:184358062 [GRCh38]
Chr3:184075850 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys) single nucleotide variant Familial hyperaldosteronism type II [RCV000515911] Chr3:184359130 [GRCh38]
Chr3:184076918 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn) single nucleotide variant Familial hyperaldosteronism type II [RCV000516045] Chr3:184359119 [GRCh38]
Chr3:184076907 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.597dup (p.Met200fs) duplication Epilepsy, juvenile myoclonic 8 [RCV000009602]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201815] Chr3:184357979..184357980 [GRCh38]
Chr3:184075767..184075768 [GRCh37]
Chr3:3q27.1		 likely pathogenic|uncertain significance
NM_004366.6(CLCN2):c.221-14_221-4del deletion Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV000009603]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201804]|not provided [RCV002512946] Chr3:184358817..184358827 [GRCh38]
Chr3:184076605..184076615 [GRCh37]
Chr3:3q27.1		 likely benign|uncertain significance
NM_004366.6(CLCN2):c.2144G>A (p.Gly715Glu) single nucleotide variant Epilepsy, juvenile absence 2 [RCV000009604]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201807] Chr3:184352810 [GRCh38]
Chr3:184070598 [GRCh37]
Chr3:3q27.1		 uncertain significance|not provided
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV000490413]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV000765717]|Epilepsy, juvenile myoclonic 8 [RCV000009605]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201836]|not provided [RCV000514822] Chr3:184357688 [GRCh38]
Chr3:184075476 [GRCh37]
Chr3:3q27.1		 risk factor|conflicting interpretations of pathogenicity|uncertain significance
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) single nucleotide variant CLCN2-related condition [RCV003964796]|Cerebral palsy [RCV001794440]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV000009606]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201800]|not provided [RCV001348159]|not specified [RCV003987315] Chr3:184353787 [GRCh38]
Chr3:184071575 [GRCh37]
Chr3:3q27.1		 likely pathogenic|risk factor|uncertain significance|not provided
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3 copy number gain See cases [RCV000051737] Chr3:184200139..184656801 [GRCh38]
Chr3:183917927..184374589 [GRCh37]
Chr3:185400621..185857283 [NCBI36]
Chr3:3q27.1		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1 copy number loss See cases [RCV000054002] Chr3:184239109..184391437 [GRCh38]
Chr3:183956897..184109225 [GRCh37]
Chr3:185439591..185591919 [NCBI36]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002490754]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV003326348]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000087029]|not provided [RCV000599144] Chr3:184354113 [GRCh38]
Chr3:184071901 [GRCh37]
Chr3:3q27.1		 pathogenic|likely pathogenic
NM_004366.6(CLCN2):c.430_435del (p.Leu144_Ile145del) deletion Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000087030] Chr3:184358228..184358233 [GRCh38]
Chr3:184076016..184076021 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.1499C>T (p.Ala500Val) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000087031] Chr3:184354556 [GRCh38]
Chr3:184072344 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.828dup (p.Arg277fs) duplication Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000087032] Chr3:184357431..184357432 [GRCh38]
Chr3:184075219..184075220 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.1304del (p.Leu435fs) deletion Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201817] Chr3:184355396 [GRCh38]
Chr3:184073184 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.64-1107_639del deletion Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201832] Chr3:184357833..184360238 [GRCh38]
Chr3:184075621..184078026 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV000613314]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201839]|not provided [RCV001518561]|not specified [RCV000202972] Chr3:184353113 [GRCh38]
Chr3:184070901 [GRCh37]
Chr3:3q27.1		 benign|uncertain significance|not provided
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201802]|not provided [RCV000514484]|not specified [RCV001729454] Chr3:184358992 [GRCh38]
Chr3:184076780 [GRCh37]
Chr3:3q27.1		 benign|likely benign|uncertain significance|not provided
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201803] Chr3:184357240 [GRCh38]
Chr3:184075028 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.1143del (p.Gly382fs) deletion Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201805]|not provided [RCV000486791] Chr3:184355721 [GRCh38]
Chr3:184073509 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.1507G>A (p.Gly503Arg) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201806] Chr3:184354548 [GRCh38]
Chr3:184072336 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.1957A>T (p.Arg653Ter) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201808] Chr3:184353321 [GRCh38]
Chr3:184071109 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002492929]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201809]|Seizure [RCV000678790]|not provided [RCV000878619] Chr3:184353341 [GRCh38]
Chr3:184071129 [GRCh37]
Chr3:3q27.1		 likely benign|uncertain significance|not provided
NM_004366.6(CLCN2):c.130G>A (p.Gly44Arg) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201812] Chr3:184359065 [GRCh38]
Chr3:184076853 [GRCh37]
Chr3:3q27.1		 uncertain significance|not provided
NM_004366.6(CLCN2):c.218G>A (p.Arg73His) single nucleotide variant CLCN2-related condition [RCV003967539]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201813]|not provided [RCV000951543]|not specified [RCV000727623] Chr3:184358977 [GRCh38]
Chr3:184076765 [GRCh37]
Chr3:3q27.1		 benign|likely benign|uncertain significance
NM_004366.6(CLCN2):c.2240G>A (p.Arg747His) single nucleotide variant Intellectual disability [RCV001251727]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201814]|not provided [RCV000983908] Chr3:184352474 [GRCh38]
Chr3:184070262 [GRCh37]
Chr3:3q27.1		 likely benign|uncertain significance|not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q27.1(chr3:184242321-184389832)x3 copy number gain See cases [RCV000136872] Chr3:184242321..184389832 [GRCh38]
Chr3:183960109..184107620 [GRCh37]
Chr3:185442803..185590314 [NCBI36]
Chr3:3q27.1		 benign
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3 copy number gain See cases [RCV000137910] Chr3:183816693..184365094 [GRCh38]
Chr3:183534481..184082882 [GRCh37]
Chr3:185017175..185565576 [NCBI36]
Chr3:3q27.1		 uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1 copy number loss See cases [RCV000139917] Chr3:184010704..186288926 [GRCh38]
Chr3:183728492..186006715 [GRCh37]
Chr3:185211186..187489409 [NCBI36]
Chr3:3q27.1-27.2		 likely pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
NM_004366.6(CLCN2):c.2271+8T>G single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002490869]|not provided [RCV000515046]|not specified [RCV001796087] Chr3:184352435 [GRCh38]
Chr3:184070223 [GRCh37]
Chr3:3q27.1		 benign|likely benign
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3		 likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1 copy number loss See cases [RCV000143297] Chr3:183521497..184472038 [GRCh38]
Chr3:183239285..184189826 [GRCh37]
Chr3:184721979..185672520 [NCBI36]
Chr3:3q27.1		 likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_004366.6(CLCN2):c.1015G>C (p.Val339Leu) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201818]|not provided [RCV003765307] Chr3:184357063 [GRCh38]
Chr3:184074851 [GRCh37]
Chr3:3q27.1		 pathogenic|uncertain significance|not provided
NM_004366.6(CLCN2):c.596G>C (p.Gly199Ala) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201820] Chr3:184357981 [GRCh38]
Chr3:184075769 [GRCh37]
Chr3:3q27.1		 uncertain significance|not provided
NM_004366.6(CLCN2):c.1856-3C>T single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201822]|not provided [RCV000998173] Chr3:184353425 [GRCh38]
Chr3:184071213 [GRCh37]
Chr3:3q27.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201823]|not provided [RCV001518560]|not specified [RCV000203168] Chr3:184352800 [GRCh38]
Chr3:184070588 [GRCh37]
Chr3:3q27.1		 benign|uncertain significance|not provided
NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201824]|not provided [RCV000760736] Chr3:184352042 [GRCh38]
Chr3:184069830 [GRCh37]
Chr3:3q27.1		 pathogenic|likely pathogenic|not provided
NM_004366.6(CLCN2):c.2003C>G (p.Thr668Ser) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201825]|not provided [RCV001511096] Chr3:184353275 [GRCh38]
Chr3:184071063 [GRCh37]
Chr3:3q27.1		 benign|uncertain significance|not provided
NM_004366.6(CLCN2):c.2273G>A (p.Ser758Asn) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201826] Chr3:184352330 [GRCh38]
Chr3:184070118 [GRCh37]
Chr3:3q27.1		 uncertain significance|not provided
NM_004366.6(CLCN2):c.1113delinsACTGCTCAT (p.Ser375fs) indel CLCN2-Related Disorders [RCV003235126]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201830] Chr3:184355751 [GRCh38]
Chr3:184073539 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201833]|not provided [RCV000514447]|not specified [RCV001727632] Chr3:184359052 [GRCh38]
Chr3:184076840 [GRCh37]
Chr3:3q27.1		 benign|likely benign|uncertain significance|not provided
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys) single nucleotide variant CLCN2-related condition [RCV003927864]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002492928]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201838]|not provided [RCV001496216] Chr3:184353348 [GRCh38]
Chr3:184071136 [GRCh37]
Chr3:3q27.1		 benign|likely benign|uncertain significance|not provided
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002485330]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201840]|not provided [RCV002515478] Chr3:184352324 [GRCh38]
Chr3:184070112 [GRCh37]
Chr3:3q27.1		 uncertain significance|not provided
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201843]|not provided [RCV001566505]|not specified [RCV000784971] Chr3:184353722 [GRCh38]
Chr3:184071510 [GRCh37]
Chr3:3q27.1		 pathogenic|uncertain significance|not provided
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) single nucleotide variant CLCN2-related condition [RCV003937759]|Intellectual disability [RCV001251939]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201844]|not provided [RCV000422010] Chr3:184352781 [GRCh38]
Chr3:184070569 [GRCh37]
Chr3:3q27.1		 benign|likely benign|uncertain significance
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His) single nucleotide variant CLCN2-related condition [RCV003982948]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201810]|not provided [RCV002277555] Chr3:184354643 [GRCh38]
Chr3:184072431 [GRCh37]
Chr3:3q27.1		 pathogenic|likely pathogenic|not provided
NM_004366.6(CLCN2):c.1422_1423del (p.Glu475fs) deletion Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201819] Chr3:184354632..184354633 [GRCh38]
Chr3:184072420..184072421 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201829]|not provided [RCV001753606]|not specified [RCV003226246] Chr3:184358788 [GRCh38]
Chr3:184076576 [GRCh37]
Chr3:3q27.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201834]|not provided [RCV001853245] Chr3:184354658 [GRCh38]
Chr3:184072446 [GRCh37]
Chr3:3q27.1		 pathogenic|uncertain significance|not provided
NM_004366.6(CLCN2):c.292G>C (p.Gly98Arg) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV000201841] Chr3:184358742 [GRCh38]
Chr3:184076530 [GRCh37]
Chr3:3q27.1		 pathogenic|not provided
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp) single nucleotide variant Familial hyperaldosteronism type II [RCV000584655]|not provided [RCV000489700] Chr3:184359124 [GRCh38]
Chr3:184076912 [GRCh37]
Chr3:3q27.1		 pathogenic|likely pathogenic
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV000735233] Chr3:184358248 [GRCh38]
Chr3:184076036 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1420_1423del (p.Gly474fs) microsatellite not provided [RCV000598550] Chr3:184354632..184354635 [GRCh38]
Chr3:184072420..184072423 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.2517C>T (p.Ile839=) single nucleotide variant not provided [RCV000416206] Chr3:184346786 [GRCh38]
Chr3:184064574 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.775G>A (p.Val259Ile) single nucleotide variant Autistic behavior [RCV000735368] Chr3:184357485 [GRCh38]
Chr3:184075273 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
NM_004366.6(CLCN2):c.1981T>A (p.Ser661Thr) single nucleotide variant not provided [RCV000433637] Chr3:184353297 [GRCh38]
Chr3:184071085 [GRCh37]
Chr3:3q27.1		 benign|likely benign
NM_004366.6(CLCN2):c.1327-5T>C single nucleotide variant not specified [RCV000444418] Chr3:184354978 [GRCh38]
Chr3:184072766 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2415+4_2415+5dup duplication Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002506010]|not provided [RCV000438622] Chr3:184352006..184352007 [GRCh38]
Chr3:184069794..184069795 [GRCh37]
Chr3:3q27.1		 benign|likely benign
NC_000003.12:g.177772523_185716872dup duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2		 likely pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
NM_004366.6(CLCN2):c.740G>T (p.Gly247Val) single nucleotide variant Cerebellar ataxia [RCV000626861] Chr3:184357652 [GRCh38]
Chr3:184075440 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1981T>C (p.Ser661Pro) single nucleotide variant Inborn genetic diseases [RCV003259465] Chr3:184353297 [GRCh38]
Chr3:184071085 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1208A>G (p.Asn403Ser) single nucleotide variant Inborn genetic diseases [RCV003246445] Chr3:184355492 [GRCh38]
Chr3:184073280 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1826G>A (p.Gly609Asp) single nucleotide variant Inborn genetic diseases [RCV003248805] Chr3:184353691 [GRCh38]
Chr3:184071479 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
CLCN2, SER865ARG variation Hyperaldosteronism, familial, type II [RCV000677208] Chr3:3q27.1 pathogenic
CLCN2, ARG172GLN variation Hyperaldosteronism, familial, type II [RCV000677206] Chr3:3q27.1 pathogenic
CLCN2, MET22LYS variation Hyperaldosteronism, familial, type II [RCV000677207] Chr3:3q27.1 pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
CLCN2, TYR26ASN variation Hyperaldosteronism, familial, type II [RCV000677209] Chr3:3q27.1 pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
NM_004366.6(CLCN2):c.302T>C (p.Met101Thr) single nucleotide variant Seizure [RCV000678789] Chr3:184358732 [GRCh38]
Chr3:184076520 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
NM_004366.6(CLCN2):c.1517C>T (p.Ala506Val) single nucleotide variant CLCN2-related condition [RCV003956273]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002476883]|not provided [RCV001577264] Chr3:184354305 [GRCh38]
Chr3:184072093 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1971C>T (p.Thr657=) single nucleotide variant not provided [RCV000928627] Chr3:184353307 [GRCh38]
Chr3:184071095 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2311-6C>T single nucleotide variant not provided [RCV000936082] Chr3:184352123 [GRCh38]
Chr3:184069911 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.616-4G>T single nucleotide variant not provided [RCV000923255] Chr3:184357860 [GRCh38]
Chr3:184075648 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.936C>G (p.Leu312=) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002502901]|not provided [RCV000946193] Chr3:184357229 [GRCh38]
Chr3:184075017 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2062C>T (p.Arg688Trp) single nucleotide variant CLCN2-related condition [RCV003948273]|not provided [RCV000878343] Chr3:184353114 [GRCh38]
Chr3:184070902 [GRCh37]
Chr3:3q27.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004366.6(CLCN2):c.1188G>A (p.Thr396=) single nucleotide variant not provided [RCV000921176] Chr3:184355512 [GRCh38]
Chr3:184073300 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1318C>T (p.Leu440Phe) single nucleotide variant not provided [RCV000983885] Chr3:184355382 [GRCh38]
Chr3:184073170 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2144-5C>T single nucleotide variant not provided [RCV000878636] Chr3:184352815 [GRCh38]
Chr3:184070603 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1128G>A (p.Thr376=) single nucleotide variant CLCN2-related condition [RCV003970721]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002502931]|not provided [RCV000951474] Chr3:184355736 [GRCh38]
Chr3:184073524 [GRCh37]
Chr3:3q27.1		 benign|likely benign
NM_004366.6(CLCN2):c.672C>T (p.Ser224=) single nucleotide variant CLCN2-related condition [RCV003895395]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002501356]|not provided [RCV000878570] Chr3:184357800 [GRCh38]
Chr3:184075588 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.221-4C>A single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002505394]|not provided [RCV000937110] Chr3:184358817 [GRCh38]
Chr3:184076605 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.285C>T (p.Val95=) single nucleotide variant not provided [RCV000981186] Chr3:184358749 [GRCh38]
Chr3:184076537 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2487C>T (p.Ile829=) single nucleotide variant not provided [RCV000951043] Chr3:184346950 [GRCh38]
Chr3:184064738 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1373C>G (p.Ala458Gly) single nucleotide variant Intellectual disability [RCV001251726] Chr3:184354927 [GRCh38]
Chr3:184072715 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2600C>T (p.Thr867Met) single nucleotide variant not provided [RCV000998169] Chr3:184346703 [GRCh38]
Chr3:184064491 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1 copy number loss not provided [RCV001005495] Chr3:183789584..186034649 [GRCh37]
Chr3:3q27.1-27.3		 likely pathogenic
NM_004366.6(CLCN2):c.719T>C (p.Leu240Pro) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV001772181]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002489503]|See cases [RCV002252294]|not provided [RCV000998174] Chr3:184357673 [GRCh38]
Chr3:184075461 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2082C>T (p.Pro694=) single nucleotide variant not provided [RCV000998171] Chr3:184353094 [GRCh38]
Chr3:184070882 [GRCh37]
Chr3:3q27.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004366.6(CLCN2):c.2258G>A (p.Arg753Gln) single nucleotide variant not provided [RCV000998170] Chr3:184352456 [GRCh38]
Chr3:184070244 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.211C>T (p.Arg71Ter) single nucleotide variant CLCN2-Related Disorders [RCV003317858] Chr3:184358984 [GRCh38]
Chr3:184076772 [GRCh37]
Chr3:3q27.1		 pathogenic
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28		 pathogenic
NM_004366.6(CLCN2):c.196C>T (p.Arg66Trp) single nucleotide variant Inborn genetic diseases [RCV003241154]|not provided [RCV003561269] Chr3:184358999 [GRCh38]
Chr3:184076787 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2293G>A (p.Glu765Lys) single nucleotide variant Inborn genetic diseases [RCV003251243] Chr3:184352310 [GRCh38]
Chr3:184070098 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.898+1G>A single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002501901]|not provided [RCV001557279] Chr3:184357361 [GRCh38]
Chr3:184075149 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.2028+21C>T single nucleotide variant not provided [RCV001718230] Chr3:184353229 [GRCh38]
Chr3:184071017 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.2184C>T (p.Phe728=) single nucleotide variant not provided [RCV000982716] Chr3:184352770 [GRCh38]
Chr3:184070558 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1461G>T (p.Thr487=) single nucleotide variant not provided [RCV000955075] Chr3:184354594 [GRCh38]
Chr3:184072382 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.879A>G (p.Ala293=) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002488033]|not provided [RCV000951526] Chr3:184357381 [GRCh38]
Chr3:184075169 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.221-8G>A single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002479043]|not provided [RCV000907757] Chr3:184358821 [GRCh38]
Chr3:184076609 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1608C>T (p.Ile536=) single nucleotide variant not provided [RCV000955109] Chr3:184354214 [GRCh38]
Chr3:184072002 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.634G>A (p.Ala212Thr) single nucleotide variant Inborn genetic diseases [RCV003169275]|not provided [RCV000907900] Chr3:184357838 [GRCh38]
Chr3:184075626 [GRCh37]
Chr3:3q27.1		 benign|uncertain significance
NM_004366.6(CLCN2):c.1929C>T (p.Ala643=) single nucleotide variant not provided [RCV000954344] Chr3:184353349 [GRCh38]
Chr3:184071137 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.989C>T (p.Ala330Val) single nucleotide variant CLCN2-related condition [RCV003905824]|Inborn genetic diseases [RCV002548281]|not provided [RCV000960762] Chr3:184357089 [GRCh38]
Chr3:184074877 [GRCh37]
Chr3:3q27.1		 likely benign|uncertain significance
NM_004366.6(CLCN2):c.1491G>A (p.Gly497=) single nucleotide variant CLCN2-related condition [RCV003925955]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002502940]|not provided [RCV000952395] Chr3:184354564 [GRCh38]
Chr3:184072352 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1141C>G (p.Pro381Ala) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002489306]|Inborn genetic diseases [RCV003169468]|not provided [RCV000951898] Chr3:184355723 [GRCh38]
Chr3:184073511 [GRCh37]
Chr3:3q27.1		 likely benign|uncertain significance
NM_004366.6(CLCN2):c.2143+8C>T single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002488057]|not provided [RCV000968945] Chr3:184353025 [GRCh38]
Chr3:184070813 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2415+9A>G single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002501351]|not provided [RCV000877973]|not specified [RCV001796298] Chr3:184352004 [GRCh38]
Chr3:184069792 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1951G>A (p.Glu651Lys) single nucleotide variant not provided [RCV000998172] Chr3:184353327 [GRCh38]
Chr3:184071115 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1996C>A (p.Pro666Thr) single nucleotide variant not provided [RCV001531587] Chr3:184353282 [GRCh38]
Chr3:184071070 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1101G>A (p.Pro367=) single nucleotide variant not provided [RCV001608261] Chr3:184355763 [GRCh38]
Chr3:184073551 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.2415+147C>T single nucleotide variant not provided [RCV001643602] Chr3:184351866 [GRCh38]
Chr3:184069654 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.2416-107G>T single nucleotide variant not provided [RCV001671262] Chr3:184347128 [GRCh38]
Chr3:184064916 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1397-1G>A single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV001004073] Chr3:184354659 [GRCh38]
Chr3:184072447 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.1396+60C>G single nucleotide variant not provided [RCV001616726] Chr3:184354844 [GRCh38]
Chr3:184072632 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.2136_2137del (p.Pro713fs) deletion not provided [RCV001070639] Chr3:184353039..184353040 [GRCh38]
Chr3:184070827..184070828 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.532G>A (p.Glu178Lys) single nucleotide variant Intellectual disability [RCV001251725] Chr3:184358045 [GRCh38]
Chr3:184075833 [GRCh37]
Chr3:3q27.1		 likely benign
GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 copy number loss Anophthalmia/microphthalmia-esophageal atresia syndrome [RCV001267847] Chr3:181171210..184706091 [GRCh37]
Chr3:3q26.33-27.2		 pathogenic
NM_004366.6(CLCN2):c.985_986del (p.Ile329fs) deletion Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV001335132] Chr3:184357092..184357093 [GRCh38]
Chr3:184074880..184074881 [GRCh37]
Chr3:3q27.1		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060) copy number loss Short stature [RCV002280742] Chr3:183556940..188083060 [GRCh37]
Chr3:3q27.1-28		 pathogenic
NM_004366.6(CLCN2):c.2134_2135del (p.Pro713fs) microsatellite Leukoencephalopathy with ataxia [RCV001335131] Chr3:184353041..184353042 [GRCh38]
Chr3:184070829..184070830 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln) single nucleotide variant Familial hyperaldosteronism type II [RCV001329866]|Inborn genetic diseases [RCV003246888] Chr3:184353344 [GRCh38]
Chr3:184071132 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1958G>C (p.Arg653Thr) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002499713]|not provided [RCV002070230]|not specified [RCV001355948] Chr3:184353320 [GRCh38]
Chr3:184071108 [GRCh37]
Chr3:3q27.1		 benign|likely benign
NM_004366.6(CLCN2):c.481+12G>A single nucleotide variant not provided [RCV001511625] Chr3:184358170 [GRCh38]
Chr3:184075958 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1626C>T (p.Asn542=) single nucleotide variant not provided [RCV001516424] Chr3:184354196 [GRCh38]
Chr3:184071984 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.2127C>T (p.Leu709=) single nucleotide variant not provided [RCV001471084] Chr3:184353049 [GRCh38]
Chr3:184070837 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1991A>T (p.Glu664Val) single nucleotide variant not provided [RCV001472794] Chr3:184353287 [GRCh38]
Chr3:184071075 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1067A>G (p.Asn356Ser) single nucleotide variant not provided [RCV001430996] Chr3:184357011 [GRCh38]
Chr3:184074799 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs) deletion Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002496011]|Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV001693504]|not provided [RCV002292650] Chr3:184357800..184357804 [GRCh38]
Chr3:184075588..184075592 [GRCh37]
Chr3:3q27.1		 pathogenic|likely pathogenic
NM_004366.6(CLCN2):c.1507+41dup duplication not provided [RCV001540119] Chr3:184354506..184354507 [GRCh38]
Chr3:184072294..184072295 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.2144-77T>C single nucleotide variant not provided [RCV001690768] Chr3:184352887 [GRCh38]
Chr3:184070675 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.906T>C (p.Ile302=) single nucleotide variant not provided [RCV001511097] Chr3:184357259 [GRCh38]
Chr3:184075047 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1397-13C>T single nucleotide variant not provided [RCV001517988] Chr3:184354671 [GRCh38]
Chr3:184072459 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1929CCG[3] (p.Arg646dup) microsatellite not provided [RCV001518562]|not specified [RCV001528876] Chr3:184353343..184353344 [GRCh38]
Chr3:184071131..184071132 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.2028+19A>G single nucleotide variant not provided [RCV001511624] Chr3:184353231 [GRCh38]
Chr3:184071019 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.220G>A (p.Val74Ile) single nucleotide variant not provided [RCV001755605] Chr3:184358975 [GRCh38]
Chr3:184076763 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV001731114] Chr3:184354272 [GRCh38]
Chr3:184072060 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.2502+15G>A single nucleotide variant not provided [RCV003108488] Chr3:184346920 [GRCh38]
Chr3:184064708 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1969A>C (p.Thr657Pro) single nucleotide variant not provided [RCV001755250] Chr3:184353309 [GRCh38]
Chr3:184071097 [GRCh37]
Chr3:3q27.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp) single nucleotide variant Inborn genetic diseases [RCV003247020]|See cases [RCV002252702]|not provided [RCV001755251] Chr3:184358293 [GRCh38]
Chr3:184076081 [GRCh37]
Chr3:3q27.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002487039]|not specified [RCV002238609] Chr3:184352798 [GRCh38]
Chr3:184070586 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1766C>T (p.Pro589Leu) single nucleotide variant not provided [RCV002280514] Chr3:184353751 [GRCh38]
Chr3:184071539 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2528T>G (p.Val843Gly) single nucleotide variant not provided [RCV001758977] Chr3:184346775 [GRCh38]
Chr3:184064563 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1153C>T (p.Gln385Ter) single nucleotide variant not provided [RCV001780793] Chr3:184355711 [GRCh38]
Chr3:184073499 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.1639A>C (p.Ser547Arg) single nucleotide variant not provided [RCV001753196] Chr3:184354183 [GRCh38]
Chr3:184071971 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1529C>T (p.Ala510Val) single nucleotide variant not provided [RCV001759099] Chr3:184354293 [GRCh38]
Chr3:184072081 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3		 pathogenic
NM_004366.6(CLCN2):c.673C>T (p.Leu225Phe) single nucleotide variant Inborn genetic diseases [RCV003289094]|not provided [RCV001795731] Chr3:184357799 [GRCh38]
Chr3:184075587 [GRCh37]
Chr3:3q27.1		 likely benign|uncertain significance
NM_004366.6(CLCN2):c.1792C>T (p.Arg598Trp) single nucleotide variant not provided [RCV001757535] Chr3:184353725 [GRCh38]
Chr3:184071513 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn) single nucleotide variant Inborn genetic diseases [RCV003163904]|See cases [RCV002252704]|not provided [RCV001755671] Chr3:184346620 [GRCh38]
Chr3:184064408 [GRCh37]
Chr3:3q27.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004366.6(CLCN2):c.2499G>A (p.Lys833=) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002482349]|not provided [RCV001816377] Chr3:184346938 [GRCh38]
Chr3:184064726 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1600G>C (p.Val534Leu) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002503309]|Inborn genetic diseases [RCV003247033]|not provided [RCV001816378] Chr3:184354222 [GRCh38]
Chr3:184072010 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.932G>A (p.Arg311Gln) single nucleotide variant not provided [RCV001950190] Chr3:184357233 [GRCh38]
Chr3:184075021 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) copy number loss not specified [RCV002053393] Chr3:182189525..187212935 [GRCh37]
Chr3:3q26.33-27.3		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042) copy number loss not specified [RCV002053395] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
NM_004366.6(CLCN2):c.1715G>A (p.Arg572His) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002507668]|not provided [RCV001987797] Chr3:184354107 [GRCh38]
Chr3:184071895 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1171-3T>C single nucleotide variant not provided [RCV001915455] Chr3:184355532 [GRCh38]
Chr3:184073320 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.343T>G (p.Cys115Gly) single nucleotide variant not provided [RCV001889982] Chr3:184358691 [GRCh38]
Chr3:184076479 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.219C>T (p.Arg73=) single nucleotide variant not provided [RCV001947691] Chr3:184358976 [GRCh38]
Chr3:184076764 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2153A>C (p.Glu718Ala) single nucleotide variant not provided [RCV002042438] Chr3:184352801 [GRCh38]
Chr3:184070589 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2674G>A (p.Asp892Asn) single nucleotide variant not provided [RCV001873116] Chr3:184346629 [GRCh38]
Chr3:184064417 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV001839076]|Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002482383] Chr3:184346680 [GRCh38]
Chr3:184064468 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.964C>T (p.Pro322Ser) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002052101] Chr3:184357201 [GRCh38]
Chr3:184074989 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.545T>C (p.Leu182Pro) single nucleotide variant not provided [RCV001911535] Chr3:184358032 [GRCh38]
Chr3:184075820 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1996C>T (p.Pro666Ser) single nucleotide variant not provided [RCV001945081] Chr3:184353282 [GRCh38]
Chr3:184071070 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1856-11G>C single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002500152]|not provided [RCV002104309] Chr3:184353433 [GRCh38]
Chr3:184071221 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1793G>A (p.Arg598Gln) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002492294]|not provided [RCV001999080] Chr3:184353724 [GRCh38]
Chr3:184071512 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1909G>T (p.Gly637Trp) single nucleotide variant not provided [RCV002001401] Chr3:184353369 [GRCh38]
Chr3:184071157 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1690T>C (p.Tyr564His) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002492340]|not provided [RCV001999565] Chr3:184354132 [GRCh38]
Chr3:184071920 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2200C>A (p.Pro734Thr) single nucleotide variant not provided [RCV001925831] Chr3:184352754 [GRCh38]
Chr3:184070542 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1214C>T (p.Thr405Met) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002484722]|not provided [RCV001953089] Chr3:184355486 [GRCh38]
Chr3:184073274 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.698A>C (p.Glu233Ala) single nucleotide variant not provided [RCV001880446] Chr3:184357694 [GRCh38]
Chr3:184075482 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2642G>A (p.Arg881His) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002484432]|not provided [RCV001918490] Chr3:184346661 [GRCh38]
Chr3:184064449 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.128T>C (p.Leu43Pro) single nucleotide variant not provided [RCV001880740] Chr3:184359067 [GRCh38]
Chr3:184076855 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2403_2410del (p.Ser802fs) deletion not provided [RCV001916454] Chr3:184352018..184352025 [GRCh38]
Chr3:184069806..184069813 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.368C>T (p.Ser123Phe) single nucleotide variant not provided [RCV002017629] Chr3:184358295 [GRCh38]
Chr3:184076083 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.154C>T (p.Pro52Ser) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002482798]|not provided [RCV001925333] Chr3:184359041 [GRCh38]
Chr3:184076829 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2174G>A (p.Arg725Gln) single nucleotide variant not provided [RCV001898478] Chr3:184352780 [GRCh38]
Chr3:184070568 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1139C>G (p.Pro380Arg) single nucleotide variant not provided [RCV001905150] Chr3:184355725 [GRCh38]
Chr3:184073513 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1633G>A (p.Ala545Thr) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002492353]|See cases [RCV002252750]|not provided [RCV002017681] Chr3:184354189 [GRCh38]
Chr3:184071977 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1291G>A (p.Val431Ile) single nucleotide variant not provided [RCV001981944] Chr3:184355409 [GRCh38]
Chr3:184073197 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1334T>G (p.Met445Arg) single nucleotide variant not provided [RCV001877165] Chr3:184354966 [GRCh38]
Chr3:184072754 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2443G>A (p.Val815Met) single nucleotide variant not provided [RCV001980655] Chr3:184346994 [GRCh38]
Chr3:184064782 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.727G>C (p.Ala243Pro) single nucleotide variant not provided [RCV001998483] Chr3:184357665 [GRCh38]
Chr3:184075453 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.616-5C>G single nucleotide variant not provided [RCV001974747] Chr3:184357861 [GRCh38]
Chr3:184075649 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1244T>G (p.Leu415Arg) single nucleotide variant Inborn genetic diseases [RCV003025432]|not provided [RCV002129845] Chr3:184355456 [GRCh38]
Chr3:184073244 [GRCh37]
Chr3:3q27.1		 benign|uncertain significance
NM_004366.6(CLCN2):c.1086-17G>A single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002505864]|not provided [RCV002186241] Chr3:184355795 [GRCh38]
Chr3:184073583 [GRCh37]
Chr3:3q27.1		 benign|likely benign
NM_004366.6(CLCN2):c.616-19C>T single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002494294]|not provided [RCV002127325] Chr3:184357875 [GRCh38]
Chr3:184075663 [GRCh37]
Chr3:3q27.1		 benign|likely benign
NM_004366.6(CLCN2):c.481+18G>A single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002498145]|not provided [RCV002167964] Chr3:184358164 [GRCh38]
Chr3:184075952 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.777C>T (p.Val259=) single nucleotide variant not provided [RCV002191229] Chr3:184357483 [GRCh38]
Chr3:184075271 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.268G>C (p.Asp90His) single nucleotide variant not provided [RCV002166982] Chr3:184358766 [GRCh38]
Chr3:184076554 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.840C>T (p.Phe280=) single nucleotide variant not provided [RCV002078482] Chr3:184357420 [GRCh38]
Chr3:184075208 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1980A>G (p.Leu660=) single nucleotide variant not provided [RCV002079912] Chr3:184353298 [GRCh38]
Chr3:184071086 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1397-11C>G single nucleotide variant not provided [RCV002094131] Chr3:184354669 [GRCh38]
Chr3:184072457 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.447C>T (p.Ala149=) single nucleotide variant not provided [RCV002131566] Chr3:184358216 [GRCh38]
Chr3:184076004 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2657G>A (p.Arg886Gln) single nucleotide variant not provided [RCV002094215] Chr3:184346646 [GRCh38]
Chr3:184064434 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1548C>A (p.Ser516=) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002486799]|not provided [RCV002079839] Chr3:184354274 [GRCh38]
Chr3:184072062 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.481G>A (p.Gly161Ser) single nucleotide variant not provided [RCV002244592] Chr3:184358182 [GRCh38]
Chr3:184075970 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.220+8C>T single nucleotide variant not provided [RCV002140345] Chr3:184358967 [GRCh38]
Chr3:184076755 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.195A>G (p.Gly65=) single nucleotide variant not provided [RCV002144534] Chr3:184359000 [GRCh38]
Chr3:184076788 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.780C>T (p.Leu260=) single nucleotide variant not provided [RCV002219341] Chr3:184357480 [GRCh38]
Chr3:184075268 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.726C>T (p.Ala242=) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002507854]|not provided [RCV002102099] Chr3:184357666 [GRCh38]
Chr3:184075454 [GRCh37]
Chr3:3q27.1		 benign|likely benign
NM_004366.6(CLCN2):c.594C>T (p.Ser198=) single nucleotide variant not provided [RCV002102622] Chr3:184357983 [GRCh38]
Chr3:184075771 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1530G>A (p.Ala510=) single nucleotide variant not provided [RCV002158757] Chr3:184354292 [GRCh38]
Chr3:184072080 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.74G>A (p.Arg25Gln) single nucleotide variant Inborn genetic diseases [RCV003081082]|not provided [RCV002183550] Chr3:184359121 [GRCh38]
Chr3:184076909 [GRCh37]
Chr3:3q27.1		 likely benign|uncertain significance
NM_004366.6(CLCN2):c.1722-5C>T single nucleotide variant not provided [RCV002180064] Chr3:184353800 [GRCh38]
Chr3:184071588 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2148C>T (p.Ser716=) single nucleotide variant not provided [RCV002183798] Chr3:184352806 [GRCh38]
Chr3:184070594 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.616-5C>T single nucleotide variant not provided [RCV003110744] Chr3:184357861 [GRCh38]
Chr3:184075649 [GRCh37]
Chr3:3q27.1		 likely benign
NC_000003.11:g.(?_182733226)_(184094097_?)del deletion 3-methylcrotonyl-CoA carboxylase 1 deficiency [RCV003116435]|ALG3-congenital disorder of glycosylation [RCV003116434] Chr3:182733226..184094097 [GRCh37]
Chr3:3q27.1		 pathogenic|uncertain significance
NC_000003.11:g.(?_183368145)_(184094097_?)del deletion not provided [RCV003113479] Chr3:183368145..184094097 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2416-4G>A single nucleotide variant not provided [RCV003116064] Chr3:184347025 [GRCh38]
Chr3:184064813 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2257C>T (p.Arg753Ter) single nucleotide variant not provided [RCV003112157] Chr3:184352457 [GRCh38]
Chr3:184070245 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.2579G>A (p.Ser860Asn) single nucleotide variant not provided [RCV002273610] Chr3:184346724 [GRCh38]
Chr3:184064512 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
NM_004366.6(CLCN2):c.620C>T (p.Pro207Leu) single nucleotide variant not specified [RCV003236533] Chr3:184357852 [GRCh38]
Chr3:184075640 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1 copy number loss not provided [RCV002291534] Chr3:181062175..185474509 [GRCh37]
Chr3:3q26.33-27.2		 pathogenic
NM_004366.6(CLCN2):c.1936C>T (p.Arg646Trp) single nucleotide variant not provided [RCV002903074] Chr3:184353342 [GRCh38]
Chr3:184071130 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.335T>C (p.Ile112Thr) single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV002510601]|not provided [RCV002299653] Chr3:184358699 [GRCh38]
Chr3:184076487 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.104A>G (p.Lys35Arg) single nucleotide variant not provided [RCV002304772] Chr3:184359091 [GRCh38]
Chr3:184076879 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1115T>G (p.Leu372Arg) single nucleotide variant not provided [RCV002295864] Chr3:184355749 [GRCh38]
Chr3:184073537 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2272-11C>G single nucleotide variant not provided [RCV002751452] Chr3:184352342 [GRCh38]
Chr3:184070130 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter) single nucleotide variant CLCN2-Related Disorders [RCV002510261]|not provided [RCV002571589] Chr3:184353662 [GRCh38]
Chr3:184071450 [GRCh37]
Chr3:3q27.1		 pathogenic|likely pathogenic
NM_004366.6(CLCN2):c.1396+19G>C single nucleotide variant not provided [RCV002731619] Chr3:184354885 [GRCh38]
Chr3:184072673 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2410C>T (p.His804Tyr) single nucleotide variant not provided [RCV002904539] Chr3:184352018 [GRCh38]
Chr3:184069806 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2680G>A (p.Asp894Asn) single nucleotide variant Inborn genetic diseases [RCV002906586] Chr3:184346623 [GRCh38]
Chr3:184064411 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.556A>G (p.Ile186Val) single nucleotide variant not provided [RCV002967475] Chr3:184358021 [GRCh38]
Chr3:184075809 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2178C>G (p.Ser726Arg) single nucleotide variant not provided [RCV002774784] Chr3:184352776 [GRCh38]
Chr3:184070564 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2218-7A>G single nucleotide variant not provided [RCV003073628] Chr3:184352503 [GRCh38]
Chr3:184070291 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1228G>A (p.Gly410Ser) single nucleotide variant Inborn genetic diseases [RCV002754280]|not provided [RCV003661001] Chr3:184355472 [GRCh38]
Chr3:184073260 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1215G>A (p.Thr405=) single nucleotide variant not provided [RCV002995309] Chr3:184355485 [GRCh38]
Chr3:184073273 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.633C>G (p.Ile211Met) single nucleotide variant not provided [RCV003076200] Chr3:184357839 [GRCh38]
Chr3:184075627 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.693+4A>T single nucleotide variant not provided [RCV002462405] Chr3:184357775 [GRCh38]
Chr3:184075563 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.773-7C>G single nucleotide variant not provided [RCV002908404] Chr3:184357494 [GRCh38]
Chr3:184075282 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2515A>G (p.Ile839Val) single nucleotide variant Inborn genetic diseases [RCV002865559] Chr3:184346788 [GRCh38]
Chr3:184064576 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1886G>A (p.Arg629His) single nucleotide variant not provided [RCV003076950] Chr3:184353392 [GRCh38]
Chr3:184071180 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1609G>A (p.Ala537Thr) single nucleotide variant Inborn genetic diseases [RCV002837167] Chr3:184354213 [GRCh38]
Chr3:184072001 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2682C>T (p.Asp894=) single nucleotide variant not provided [RCV002972515] Chr3:184346621 [GRCh38]
Chr3:184064409 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.252A>G (p.Val84=) single nucleotide variant not provided [RCV002904870] Chr3:184358782 [GRCh38]
Chr3:184076570 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1326+14G>A single nucleotide variant not provided [RCV002970922] Chr3:184355360 [GRCh38]
Chr3:184073148 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1493G>T (p.Gly498Val) single nucleotide variant not provided [RCV002970803] Chr3:184354562 [GRCh38]
Chr3:184072350 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.980T>C (p.Ile327Thr) single nucleotide variant not provided [RCV002995771] Chr3:184357185 [GRCh38]
Chr3:184074973 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2197C>T (p.Pro733Ser) single nucleotide variant not provided [RCV002995783] Chr3:184352757 [GRCh38]
Chr3:184070545 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1722-18G>A single nucleotide variant not provided [RCV002907638] Chr3:184353813 [GRCh38]
Chr3:184071601 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1855+20del deletion not provided [RCV002861951] Chr3:184353642 [GRCh38]
Chr3:184071430 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.508A>G (p.Ile170Val) single nucleotide variant not provided [RCV002995532] Chr3:184358069 [GRCh38]
Chr3:184075857 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.482-7T>C single nucleotide variant not provided [RCV002843585] Chr3:184358102 [GRCh38]
Chr3:184075890 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2425A>G (p.Ile809Val) single nucleotide variant not provided [RCV002908127] Chr3:184347012 [GRCh38]
Chr3:184064800 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1085+9C>T single nucleotide variant not provided [RCV002971682] Chr3:184356984 [GRCh38]
Chr3:184074772 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1721+5G>A single nucleotide variant Epilepsy, idiopathic generalized, susceptibility to, 11 [RCV003147771]|not provided [RCV002462789] Chr3:184354096 [GRCh38]
Chr3:184071884 [GRCh37]
Chr3:3q27.1		 pathogenic|uncertain significance
NM_004366.6(CLCN2):c.2356A>G (p.Ser786Gly) single nucleotide variant Inborn genetic diseases [RCV002777652] Chr3:184352072 [GRCh38]
Chr3:184069860 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.37C>T (p.Arg13Trp) single nucleotide variant not provided [RCV002681699] Chr3:184361443 [GRCh38]
Chr3:184079231 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1508-16G>A single nucleotide variant not provided [RCV002750950] Chr3:184354330 [GRCh38]
Chr3:184072118 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.682G>A (p.Gly228Ser) single nucleotide variant not provided [RCV003021801] Chr3:184357790 [GRCh38]
Chr3:184075578 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.294G>A (p.Gly98=) single nucleotide variant not provided [RCV002591599] Chr3:184358740 [GRCh38]
Chr3:184076528 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1357C>T (p.Pro453Ser) single nucleotide variant not provided [RCV002800397] Chr3:184354943 [GRCh38]
Chr3:184072731 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1856-6del deletion not provided [RCV003081315] Chr3:184353428 [GRCh38]
Chr3:184071216 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2217+12G>A single nucleotide variant not provided [RCV002622880] Chr3:184352725 [GRCh38]
Chr3:184070513 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1222C>T (p.Arg408Cys) single nucleotide variant not provided [RCV002998703] Chr3:184355478 [GRCh38]
Chr3:184073266 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2271+7A>G single nucleotide variant not provided [RCV002867104] Chr3:184352436 [GRCh38]
Chr3:184070224 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1722-10C>T single nucleotide variant not provided [RCV002637248] Chr3:184353805 [GRCh38]
Chr3:184071593 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1506C>G (p.Val502=) single nucleotide variant not provided [RCV003077773] Chr3:184354549 [GRCh38]
Chr3:184072337 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2272-5A>G single nucleotide variant not provided [RCV002909507] Chr3:184352336 [GRCh38]
Chr3:184070124 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2403C>T (p.Thr801=) single nucleotide variant not provided [RCV002846440] Chr3:184352025 [GRCh38]
Chr3:184069813 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2258G>C (p.Arg753Pro) single nucleotide variant Inborn genetic diseases [RCV002925376] Chr3:184352456 [GRCh38]
Chr3:184070244 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1721+4C>T single nucleotide variant not provided [RCV002909675] Chr3:184354097 [GRCh38]
Chr3:184071885 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.841G>T (p.Ala281Ser) single nucleotide variant not provided [RCV002913519] Chr3:184357419 [GRCh38]
Chr3:184075207 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1996C>G (p.Pro666Ala) single nucleotide variant not provided [RCV002867318] Chr3:184353282 [GRCh38]
Chr3:184071070 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1508-18G>A single nucleotide variant not provided [RCV003037954] Chr3:184354332 [GRCh38]
Chr3:184072120 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.773-9C>G single nucleotide variant not provided [RCV002886301] Chr3:184357496 [GRCh38]
Chr3:184075284 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.736G>A (p.Val246Met) single nucleotide variant not provided [RCV002636598] Chr3:184357656 [GRCh38]
Chr3:184075444 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.694-6C>T single nucleotide variant CLCN2-related condition [RCV003936436]|not provided [RCV002953165] Chr3:184357704 [GRCh38]
Chr3:184075492 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2277C>T (p.Asp759=) single nucleotide variant not provided [RCV002591743] Chr3:184352326 [GRCh38]
Chr3:184070114 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1829G>A (p.Arg610Gln) single nucleotide variant Inborn genetic diseases [RCV002980182] Chr3:184353688 [GRCh38]
Chr3:184071476 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2631G>A (p.Gly877=) single nucleotide variant not provided [RCV002705336] Chr3:184346672 [GRCh38]
Chr3:184064460 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1924C>G (p.Pro642Ala) single nucleotide variant not provided [RCV003019908] Chr3:184353354 [GRCh38]
Chr3:184071142 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2285T>C (p.Leu762Pro) single nucleotide variant Inborn genetic diseases [RCV002662690]|not provided [RCV002662689] Chr3:184352318 [GRCh38]
Chr3:184070106 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1197C>G (p.Thr399=) single nucleotide variant not provided [RCV002979787] Chr3:184355503 [GRCh38]
Chr3:184073291 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2101A>T (p.Arg701Trp) single nucleotide variant not provided [RCV002885726] Chr3:184353075 [GRCh38]
Chr3:184070863 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1477C>T (p.Arg493Trp) single nucleotide variant not provided [RCV002847487] Chr3:184354578 [GRCh38]
Chr3:184072366 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.631A>G (p.Ile211Val) single nucleotide variant not provided [RCV002637528] Chr3:184357841 [GRCh38]
Chr3:184075629 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2673C>T (p.Ser891=) single nucleotide variant not provided [RCV002662552] Chr3:184346630 [GRCh38]
Chr3:184064418 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.482-17G>T single nucleotide variant not provided [RCV002957232] Chr3:184358112 [GRCh38]
Chr3:184075900 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2217+12G>C single nucleotide variant not provided [RCV002745757] Chr3:184352725 [GRCh38]
Chr3:184070513 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1894G>T (p.Val632Leu) single nucleotide variant not provided [RCV003026240] Chr3:184353384 [GRCh38]
Chr3:184071172 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.220+15G>A single nucleotide variant not provided [RCV002701366] Chr3:184358960 [GRCh38]
Chr3:184076748 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1605G>A (p.Met535Ile) single nucleotide variant not provided [RCV002791471] Chr3:184354217 [GRCh38]
Chr3:184072005 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1715G>T (p.Arg572Leu) single nucleotide variant not provided [RCV002851058] Chr3:184354107 [GRCh38]
Chr3:184071895 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1627G>T (p.Ala543Ser) single nucleotide variant not provided [RCV002643213] Chr3:184354195 [GRCh38]
Chr3:184071983 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2149G>A (p.Ala717Thr) single nucleotide variant Inborn genetic diseases [RCV002744809]|not provided [RCV003548974] Chr3:184352805 [GRCh38]
Chr3:184070593 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1200G>C (p.Leu400=) single nucleotide variant not provided [RCV002958303] Chr3:184355500 [GRCh38]
Chr3:184073288 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.206G>T (p.Cys69Phe) single nucleotide variant Inborn genetic diseases [RCV002984967] Chr3:184358989 [GRCh38]
Chr3:184076777 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2054C>A (p.Pro685Gln) single nucleotide variant not provided [RCV002918004] Chr3:184353122 [GRCh38]
Chr3:184070910 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2143+16C>T single nucleotide variant not provided [RCV003056729] Chr3:184353017 [GRCh38]
Chr3:184070805 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2694A>G (p.Gln898=) single nucleotide variant not provided [RCV002917518] Chr3:184346609 [GRCh38]
Chr3:184064397 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1833G>T (p.Met611Ile) single nucleotide variant not provided [RCV002851101] Chr3:184353684 [GRCh38]
Chr3:184071472 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2060C>T (p.Ala687Val) single nucleotide variant not provided [RCV002710587] Chr3:184353116 [GRCh38]
Chr3:184070904 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1954C>T (p.Arg652Cys) single nucleotide variant Inborn genetic diseases [RCV003250643]|not provided [RCV002953965] Chr3:184353324 [GRCh38]
Chr3:184071112 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1953G>A (p.Glu651=) single nucleotide variant not provided [RCV002919132] Chr3:184353325 [GRCh38]
Chr3:184071113 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1856-17C>T single nucleotide variant not provided [RCV002872719] Chr3:184353439 [GRCh38]
Chr3:184071227 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.461T>C (p.Ile154Thr) single nucleotide variant not provided [RCV003083196] Chr3:184358202 [GRCh38]
Chr3:184075990 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.890G>A (p.Arg297Gln) single nucleotide variant not provided [RCV002918987] Chr3:184357370 [GRCh38]
Chr3:184075158 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1440G>C (p.Trp480Cys) single nucleotide variant not provided [RCV003007976] Chr3:184354615 [GRCh38]
Chr3:184072403 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2400G>T (p.Arg800=) single nucleotide variant CLCN2-related condition [RCV003943516]|not provided [RCV002890372] Chr3:184352028 [GRCh38]
Chr3:184069816 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1282C>T (p.Arg428Cys) single nucleotide variant not provided [RCV003058781] Chr3:184355418 [GRCh38]
Chr3:184073206 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2029-6A>G single nucleotide variant not provided [RCV002828759] Chr3:184353153 [GRCh38]
Chr3:184070941 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.926G>A (p.Arg309Gln) single nucleotide variant not provided [RCV002625038] Chr3:184357239 [GRCh38]
Chr3:184075027 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2214G>A (p.Ser738=) single nucleotide variant not provided [RCV002957759] Chr3:184352740 [GRCh38]
Chr3:184070528 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1245A>G (p.Leu415=) single nucleotide variant not provided [RCV003083580] Chr3:184355455 [GRCh38]
Chr3:184073243 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.694-11A>G single nucleotide variant not provided [RCV002572941] Chr3:184357709 [GRCh38]
Chr3:184075497 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1100C>T (p.Pro367Leu) single nucleotide variant not provided [RCV002594439] Chr3:184355764 [GRCh38]
Chr3:184073552 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.992G>C (p.Ser331Thr) single nucleotide variant Inborn genetic diseases [RCV002711566]|not provided [RCV002745432] Chr3:184357086 [GRCh38]
Chr3:184074874 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2036C>G (p.Thr679Arg) single nucleotide variant not provided [RCV003023242] Chr3:184353140 [GRCh38]
Chr3:184070928 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.197G>A (p.Arg66Gln) single nucleotide variant not provided [RCV003084054] Chr3:184358998 [GRCh38]
Chr3:184076786 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2345C>T (p.Pro782Leu) single nucleotide variant not provided [RCV002644521] Chr3:184352083 [GRCh38]
Chr3:184069871 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.167G>A (p.Arg56Gln) single nucleotide variant not provided [RCV002595660] Chr3:184359028 [GRCh38]
Chr3:184076816 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.841G>A (p.Ala281Thr) single nucleotide variant not provided [RCV002932899] Chr3:184357419 [GRCh38]
Chr3:184075207 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.555T>C (p.Phe185=) single nucleotide variant not provided [RCV002890990] Chr3:184358022 [GRCh38]
Chr3:184075810 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1397-12C>T single nucleotide variant not provided [RCV002625331] Chr3:184354670 [GRCh38]
Chr3:184072458 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.441C>G (p.Phe147Leu) single nucleotide variant not provided [RCV003086764] Chr3:184358222 [GRCh38]
Chr3:184076010 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1171-9T>C single nucleotide variant not provided [RCV003091821] Chr3:184355538 [GRCh38]
Chr3:184073326 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1973C>T (p.Ser658Phe) single nucleotide variant not provided [RCV002922078] Chr3:184353305 [GRCh38]
Chr3:184071093 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1456C>T (p.His486Tyr) single nucleotide variant not provided [RCV003090170] Chr3:184354599 [GRCh38]
Chr3:184072387 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2271+2dup duplication not provided [RCV002856724] Chr3:184352440..184352441 [GRCh38]
Chr3:184070228..184070229 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1139C>T (p.Pro380Leu) single nucleotide variant not provided [RCV003064791] Chr3:184355725 [GRCh38]
Chr3:184073513 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.510C>T (p.Ile170=) single nucleotide variant not provided [RCV002933871] Chr3:184358067 [GRCh38]
Chr3:184075855 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1895T>C (p.Val632Ala) single nucleotide variant not provided [RCV002650125] Chr3:184353383 [GRCh38]
Chr3:184071171 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1050G>A (p.Arg350=) single nucleotide variant not provided [RCV003031418] Chr3:184357028 [GRCh38]
Chr3:184074816 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.221-17C>T single nucleotide variant not provided [RCV003091935] Chr3:184358830 [GRCh38]
Chr3:184076618 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2399G>A (p.Arg800Gln) single nucleotide variant not provided [RCV002598848] Chr3:184352029 [GRCh38]
Chr3:184069817 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.899-10T>G single nucleotide variant not provided [RCV002746130] Chr3:184357276 [GRCh38]
Chr3:184075064 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1802G>A (p.Arg601His) single nucleotide variant not provided [RCV003063121] Chr3:184353715 [GRCh38]
Chr3:184071503 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2573G>A (p.Arg858Gln) single nucleotide variant not provided [RCV002647929] Chr3:184346730 [GRCh38]
Chr3:184064518 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1000G>A (p.Gly334Ser) single nucleotide variant not provided [RCV003086843] Chr3:184357078 [GRCh38]
Chr3:184074866 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.738G>T (p.Val246=) single nucleotide variant not provided [RCV002966471] Chr3:184357654 [GRCh38]
Chr3:184075442 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1290C>T (p.Asn430=) single nucleotide variant not provided [RCV002895852] Chr3:184355410 [GRCh38]
Chr3:184073198 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1561G>A (p.Val521Met) single nucleotide variant not provided [RCV003063081] Chr3:184354261 [GRCh38]
Chr3:184072049 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1086-13C>T single nucleotide variant not provided [RCV003029923] Chr3:184355791 [GRCh38]
Chr3:184073579 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1526G>C (p.Gly509Ala) single nucleotide variant not provided [RCV002938895] Chr3:184354296 [GRCh38]
Chr3:184072084 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.583G>A (p.Ala195Thr) single nucleotide variant not provided [RCV002629780] Chr3:184357994 [GRCh38]
Chr3:184075782 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2535A>G (p.Ala845=) single nucleotide variant not provided [RCV002746622] Chr3:184346768 [GRCh38]
Chr3:184064556 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2075A>G (p.His692Arg) single nucleotide variant not provided [RCV002937181] Chr3:184353101 [GRCh38]
Chr3:184070889 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1327-11C>T single nucleotide variant not provided [RCV002647778] Chr3:184354984 [GRCh38]
Chr3:184072772 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2291G>C (p.Gly764Ala) single nucleotide variant not provided [RCV003060888] Chr3:184352312 [GRCh38]
Chr3:184070100 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.206_207delinsTT (p.Cys69Phe) indel not provided [RCV002628601] Chr3:184358988..184358989 [GRCh38]
Chr3:184076776..184076777 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2480T>C (p.Ile827Thr) single nucleotide variant Inborn genetic diseases [RCV002812655] Chr3:184346957 [GRCh38]
Chr3:184064745 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2151A>T (p.Ala717=) single nucleotide variant not provided [RCV002584913] Chr3:184352803 [GRCh38]
Chr3:184070591 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2047G>A (p.Ala683Thr) single nucleotide variant not provided [RCV003093616] Chr3:184353129 [GRCh38]
Chr3:184070917 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.95C>A (p.Ala32Asp) single nucleotide variant not provided [RCV002944170] Chr3:184359100 [GRCh38]
Chr3:184076888 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1171-14C>G single nucleotide variant not provided [RCV002942900] Chr3:184355543 [GRCh38]
Chr3:184073331 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2415+6G>A single nucleotide variant not provided [RCV002634141] Chr3:184352007 [GRCh38]
Chr3:184069795 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1019A>G (p.Tyr340Cys) single nucleotide variant not provided [RCV003092694] Chr3:184357059 [GRCh38]
Chr3:184074847 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.63+4A>G single nucleotide variant not provided [RCV002725458] Chr3:184361413 [GRCh38]
Chr3:184079201 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1397-11C>T single nucleotide variant not provided [RCV003072579] Chr3:184354669 [GRCh38]
Chr3:184072457 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2311A>G (p.Ile771Val) single nucleotide variant not provided [RCV002676707] Chr3:184352117 [GRCh38]
Chr3:184069905 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2115C>T (p.Val705=) single nucleotide variant not provided [RCV002653268] Chr3:184353061 [GRCh38]
Chr3:184070849 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.678T>G (p.Phe226Leu) single nucleotide variant not provided [RCV002942714] Chr3:184357794 [GRCh38]
Chr3:184075582 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1085+8G>A single nucleotide variant not provided [RCV002588830] Chr3:184356985 [GRCh38]
Chr3:184074773 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.105A>G (p.Lys35=) single nucleotide variant not provided [RCV003051408] Chr3:184359090 [GRCh38]
Chr3:184076878 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2218-17C>T single nucleotide variant not provided [RCV002607771] Chr3:184352513 [GRCh38]
Chr3:184070301 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.899-7C>G single nucleotide variant not provided [RCV003072653] Chr3:184357273 [GRCh38]
Chr3:184075061 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2036C>T (p.Thr679Ile) single nucleotide variant not provided [RCV002721312] Chr3:184353140 [GRCh38]
Chr3:184070928 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.758C>T (p.Ala253Val) single nucleotide variant Inborn genetic diseases [RCV003164857]|not provided [RCV003145021] Chr3:184357634 [GRCh38]
Chr3:184075422 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1335G>A (p.Met445Ile) single nucleotide variant not provided [RCV003145023] Chr3:184354965 [GRCh38]
Chr3:184072753 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2364C>G (p.Cys788Trp) single nucleotide variant not provided [RCV003145022] Chr3:184352064 [GRCh38]
Chr3:184069852 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.453C>G (p.Phe151Leu) single nucleotide variant Inborn genetic diseases [RCV003299865] Chr3:184358210 [GRCh38]
Chr3:184075998 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.629A>G (p.His210Arg) single nucleotide variant Inborn genetic diseases [RCV003255517] Chr3:184357843 [GRCh38]
Chr3:184075631 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1946T>C (p.Met649Thr) single nucleotide variant Inborn genetic diseases [RCV003189445] Chr3:184353332 [GRCh38]
Chr3:184071120 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1447G>A (p.Asp483Asn) single nucleotide variant Inborn genetic diseases [RCV003203188] Chr3:184354608 [GRCh38]
Chr3:184072396 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.207C>A (p.Cys69Ter) single nucleotide variant not provided [RCV003141476] Chr3:184358988 [GRCh38]
Chr3:184076776 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.1933C>T (p.Arg645Trp) single nucleotide variant Inborn genetic diseases [RCV003207497] Chr3:184353345 [GRCh38]
Chr3:184071133 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2068G>T (p.Glu690Ter) single nucleotide variant Leukoencephalopathy with mild cerebellar ataxia and white matter edema [RCV003448821] Chr3:184353108 [GRCh38]
Chr3:184070896 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.815T>C (p.Val272Ala) single nucleotide variant Inborn genetic diseases [RCV003309675] Chr3:184357445 [GRCh38]
Chr3:184075233 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.931C>T (p.Arg311Trp) single nucleotide variant not provided [RCV003327133] Chr3:184357234 [GRCh38]
Chr3:184075022 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.603G>A (p.Pro201=) single nucleotide variant not provided [RCV003334262] Chr3:184357974 [GRCh38]
Chr3:184075762 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2357G>A (p.Ser786Asn) single nucleotide variant Inborn genetic diseases [RCV003370073] Chr3:184352071 [GRCh38]
Chr3:184069859 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2270C>T (p.Ala757Val) single nucleotide variant Epilepsy, familial focal, with variable foci 2 [RCV003448883] Chr3:184352444 [GRCh38]
Chr3:184070232 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.353-1G>T single nucleotide variant not provided [RCV003569414] Chr3:184358311 [GRCh38]
Chr3:184076099 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.1856-12T>C single nucleotide variant not provided [RCV003875633] Chr3:184353434 [GRCh38]
Chr3:184071222 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1714C>T (p.Arg572Cys) single nucleotide variant not provided [RCV003873772] Chr3:184354108 [GRCh38]
Chr3:184071896 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2311-18A>T single nucleotide variant not provided [RCV003874891] Chr3:184352135 [GRCh38]
Chr3:184069923 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.572G>A (p.Gly191Glu) single nucleotide variant not provided [RCV003569332] Chr3:184358005 [GRCh38]
Chr3:184075793 [GRCh37]
Chr3:3q27.1		 uncertain significance
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_004366.6(CLCN2):c.1855+2T>C single nucleotide variant CLCN2-related condition [RCV003421130] Chr3:184353660 [GRCh38]
Chr3:184071448 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.924C>A (p.Thr308=) single nucleotide variant not provided [RCV003434820] Chr3:184357241 [GRCh38]
Chr3:184075029 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1653C>A (p.Ser551=) single nucleotide variant not provided [RCV003439070] Chr3:184354169 [GRCh38]
Chr3:184071957 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.280C>T (p.Leu94=) single nucleotide variant not provided [RCV003439072] Chr3:184358754 [GRCh38]
Chr3:184076542 [GRCh37]
Chr3:3q27.1		 likely benign
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_004366.6(CLCN2):c.2507G>A (p.Arg836Gln) single nucleotide variant not provided [RCV003443635] Chr3:184346796 [GRCh38]
Chr3:184064584 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1823A>G (p.Lys608Arg) single nucleotide variant CLCN2-related condition [RCV003392959]|not provided [RCV003778304] Chr3:184353694 [GRCh38]
Chr3:184071482 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2691C>T (p.Cys897=) single nucleotide variant not provided [RCV003434819] Chr3:184346612 [GRCh38]
Chr3:184064400 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.641T>C (p.Met214Thr) single nucleotide variant not provided [RCV003434821] Chr3:184357831 [GRCh38]
Chr3:184075619 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1495T>C (p.Tyr499His) single nucleotide variant not provided [RCV003439071] Chr3:184354560 [GRCh38]
Chr3:184072348 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2271+1_2271+2delinsCA indel CLCN2-related condition [RCV003406212] Chr3:184352441..184352442 [GRCh38]
Chr3:184070229..184070230 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.2556G>A (p.Pro852=) single nucleotide variant not provided [RCV003574358] Chr3:184346747 [GRCh38]
Chr3:184064535 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1507+19A>G single nucleotide variant not provided [RCV003575974] Chr3:184354529 [GRCh38]
Chr3:184072317 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.694-5G>A single nucleotide variant not provided [RCV003878976] Chr3:184357703 [GRCh38]
Chr3:184075491 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1912dup (p.Ala638fs) duplication not provided [RCV003547037] Chr3:184353365..184353366 [GRCh38]
Chr3:184071153..184071154 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.118C>T (p.Arg40Trp) single nucleotide variant not provided [RCV003661904] Chr3:184359077 [GRCh38]
Chr3:184076865 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1188G>T (p.Thr396=) single nucleotide variant not provided [RCV003879834] Chr3:184355512 [GRCh38]
Chr3:184073300 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1424_1427dup (p.Ser476fs) duplication not provided [RCV003694589] Chr3:184354627..184354628 [GRCh38]
Chr3:184072415..184072416 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.2518G>A (p.Glu840Lys) single nucleotide variant not provided [RCV003543983] Chr3:184346785 [GRCh38]
Chr3:184064573 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.592A>G (p.Ser198Gly) single nucleotide variant not provided [RCV003687190] Chr3:184357985 [GRCh38]
Chr3:184075773 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2060C>A (p.Ala687Asp) single nucleotide variant not provided [RCV003578956] Chr3:184353116 [GRCh38]
Chr3:184070904 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.952C>T (p.Leu318=) single nucleotide variant not provided [RCV003578380] Chr3:184357213 [GRCh38]
Chr3:184075001 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1560C>T (p.Ile520=) single nucleotide variant not provided [RCV003688379] Chr3:184354262 [GRCh38]
Chr3:184072050 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2550C>T (p.Val850=) single nucleotide variant not provided [RCV003825949] Chr3:184346753 [GRCh38]
Chr3:184064541 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1327-16C>T single nucleotide variant not provided [RCV003828184] Chr3:184354989 [GRCh38]
Chr3:184072777 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1067A>C (p.Asn356Thr) single nucleotide variant not provided [RCV003490570] Chr3:184357011 [GRCh38]
Chr3:184074799 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.616-4G>A single nucleotide variant not provided [RCV003688693] Chr3:184357860 [GRCh38]
Chr3:184075648 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2450A>G (p.His817Arg) single nucleotide variant not provided [RCV003665634] Chr3:184346987 [GRCh38]
Chr3:184064775 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.937G>A (p.Asp313Asn) single nucleotide variant not provided [RCV003832818] Chr3:184357228 [GRCh38]
Chr3:184075016 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2029-14T>A single nucleotide variant not provided [RCV003548655] Chr3:184353161 [GRCh38]
Chr3:184070949 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1320C>G (p.Leu440=) single nucleotide variant not provided [RCV003717549] Chr3:184355380 [GRCh38]
Chr3:184073168 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.220+1G>A single nucleotide variant not provided [RCV003699297] Chr3:184358974 [GRCh38]
Chr3:184076762 [GRCh37]
Chr3:3q27.1		 likely pathogenic
NM_004366.6(CLCN2):c.2351A>C (p.Asn784Thr) single nucleotide variant not provided [RCV003849489] Chr3:184352077 [GRCh38]
Chr3:184069865 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.756C>T (p.Phe252=) single nucleotide variant not provided [RCV003725722] Chr3:184357636 [GRCh38]
Chr3:184075424 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1856-14C>T single nucleotide variant not provided [RCV003856816] Chr3:184353436 [GRCh38]
Chr3:184071224 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2029-16C>T single nucleotide variant not provided [RCV003561921] Chr3:184353163 [GRCh38]
Chr3:184070951 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1327-13C>T single nucleotide variant not provided [RCV003559473] Chr3:184354986 [GRCh38]
Chr3:184072774 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.1206C>T (p.Asp402=) single nucleotide variant not provided [RCV003560228] Chr3:184355494 [GRCh38]
Chr3:184073282 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2218-14T>C single nucleotide variant not provided [RCV003669545] Chr3:184352510 [GRCh38]
Chr3:184070298 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1828C>T (p.Arg610Ter) single nucleotide variant not provided [RCV003561666] Chr3:184353689 [GRCh38]
Chr3:184071477 [GRCh37]
Chr3:3q27.1		 pathogenic
NM_004366.6(CLCN2):c.364A>C (p.Met122Leu) single nucleotide variant not provided [RCV003669783] Chr3:184358299 [GRCh38]
Chr3:184076087 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1302C>G (p.Thr434=) single nucleotide variant not provided [RCV003702342] Chr3:184355398 [GRCh38]
Chr3:184073186 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.505A>C (p.Thr169Pro) single nucleotide variant not provided [RCV003559151] Chr3:184358072 [GRCh38]
Chr3:184075860 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1461G>A (p.Thr487=) single nucleotide variant not provided [RCV003704974] Chr3:184354594 [GRCh38]
Chr3:184072382 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2271A>C (p.Ala757=) single nucleotide variant not provided [RCV003822859] Chr3:184352443 [GRCh38]
Chr3:184070231 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1705G>A (p.Gly569Ser) single nucleotide variant not provided [RCV003553029] Chr3:184354117 [GRCh38]
Chr3:184071905 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1141C>A (p.Pro381Thr) single nucleotide variant not provided [RCV003553719] Chr3:184355723 [GRCh38]
Chr3:184073511 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2431T>C (p.Ser811Pro) single nucleotide variant not provided [RCV003680668] Chr3:184347006 [GRCh38]
Chr3:184064794 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.899-14G>T single nucleotide variant not provided [RCV003680681] Chr3:184357280 [GRCh38]
Chr3:184075068 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1955G>A (p.Arg652His) single nucleotide variant not provided [RCV003863436] Chr3:184353323 [GRCh38]
Chr3:184071111 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.221-14T>G single nucleotide variant not provided [RCV003729842] Chr3:184358827 [GRCh38]
Chr3:184076615 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.725C>T (p.Ala242Val) single nucleotide variant not provided [RCV003557365] Chr3:184357667 [GRCh38]
Chr3:184075455 [GRCh37]
Chr3:3q27.1		 uncertain significance
GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3 copy number gain not specified [RCV003986419] Chr3:183822591..185678620 [GRCh37]
Chr3:3q27.1-27.2		 uncertain significance
NM_004366.6(CLCN2):c.1977A>G (p.Pro659=) single nucleotide variant not provided [RCV003735936] Chr3:184353301 [GRCh38]
Chr3:184071089 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1397-10C>G single nucleotide variant not provided [RCV003737948] Chr3:184354668 [GRCh38]
Chr3:184072456 [GRCh37]
Chr3:3q27.1		 likely benign
GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1 copy number loss not specified [RCV003986441] Chr3:179391972..185539073 [GRCh37]
Chr3:3q26.33-27.2		 pathogenic
NM_004366.6(CLCN2):c.2679C>T (p.Ser893=) single nucleotide variant not provided [RCV003735943] Chr3:184346624 [GRCh38]
Chr3:184064412 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1086-8G>A single nucleotide variant not provided [RCV003736013] Chr3:184355786 [GRCh38]
Chr3:184073574 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1978C>A (p.Leu660Ile) single nucleotide variant not provided [RCV003845859] Chr3:184353300 [GRCh38]
Chr3:184071088 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2272-15C>G single nucleotide variant not provided [RCV003554727] Chr3:184352346 [GRCh38]
Chr3:184070134 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1443C>T (p.Phe481=) single nucleotide variant not provided [RCV003869311] Chr3:184354612 [GRCh38]
Chr3:184072400 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1721+6G>A single nucleotide variant not provided [RCV003554877] Chr3:184354095 [GRCh38]
Chr3:184071883 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1393A>G (p.Ile465Val) single nucleotide variant not provided [RCV003554908] Chr3:184354907 [GRCh38]
Chr3:184072695 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1480A>G (p.Ile494Val) single nucleotide variant not provided [RCV003860495] Chr3:184354575 [GRCh38]
Chr3:184072363 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.1677C>T (p.Ile559=) single nucleotide variant not provided [RCV003853093] Chr3:184354145 [GRCh38]
Chr3:184071933 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.2469T>C (p.Ile823=) single nucleotide variant not provided [RCV003705478] Chr3:184346968 [GRCh38]
Chr3:184064756 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.772+4G>A single nucleotide variant not provided [RCV003709803] Chr3:184357616 [GRCh38]
Chr3:184075404 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.2350A>G (p.Asn784Asp) single nucleotide variant not provided [RCV003565275] Chr3:184352078 [GRCh38]
Chr3:184069866 [GRCh37]
Chr3:3q27.1		 uncertain significance
NM_004366.6(CLCN2):c.*10G>A single nucleotide variant CLCN2-related condition [RCV003919857] Chr3:184346596 [GRCh38]
Chr3:184064384 [GRCh37]
Chr3:3q27.1		 benign
NM_004366.6(CLCN2):c.*8G>A single nucleotide variant CLCN2-related condition [RCV003981634] Chr3:184346598 [GRCh38]
Chr3:184064386 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1611C>T (p.Ala537=) single nucleotide variant CLCN2-related condition [RCV003904400] Chr3:184354211 [GRCh38]
Chr3:184071999 [GRCh37]
Chr3:3q27.1		 likely benign
NM_004366.6(CLCN2):c.1912G>A (p.Ala638Thr) single nucleotide variant Familial hyperaldosteronism type II [RCV003340855] Chr3:184353366 [GRCh38]
Chr3:184071154 [GRCh37]
Chr3:3q27.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4377
Count of miRNA genes:998
Interacting mature miRNAs:1246
Transcripts:ENST00000265593, ENST00000344937, ENST00000423355, ENST00000430397, ENST00000434054, ENST00000457512, ENST00000465231, ENST00000475279, ENST00000485667, ENST00000491162
Prediction methods:Miranda, Rnahybrid, Targetscan
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.

Markers in Region
D3S3725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,809,640 - 171,809,862UniSTSGRCh37
Build 363173,292,334 - 173,292,556RGDNCBI36
Celera3170,209,300 - 170,209,524RGD
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map3q27-q28UniSTS
HuRef3169,179,315 - 169,179,547UniSTS
Marshfield Genetic Map3181.87RGD
Marshfield Genetic Map3181.87UniSTS
Genethon Genetic Map3188.2UniSTS
TNG Radiation Hybrid Map396035.0UniSTS
deCODE Assembly Map3174.44UniSTS
GeneMap99-GB4 RH Map3641.11UniSTS
NCBI RH Map31550.6UniSTS
WI-11757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,063,980 - 184,064,129UniSTSGRCh37
Build 363185,546,674 - 185,546,823RGDNCBI36
Celera3182,504,879 - 182,505,028RGD
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map3q27.1UniSTS
HuRef3181,470,411 - 181,470,560UniSTS
GeneMap99-GB4 RH Map3697.2UniSTS
Whitehead-RH Map3852.5UniSTS
D3S1682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,078,989 - 184,079,203UniSTSGRCh37
Build 363185,561,683 - 185,561,897RGDNCBI36
Celera3182,519,888 - 182,520,102RGD
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map3q27UniSTS
HuRef3181,485,421 - 181,485,635UniSTS
HSC2IC072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,064,076 - 184,064,254UniSTSGRCh37
Build 363185,546,770 - 185,546,948RGDNCBI36
Celera3182,504,975 - 182,505,153RGD
Cytogenetic Map3q27-q28UniSTS
Cytogenetic Map3q27.1UniSTS
HuRef3181,470,507 - 181,470,685UniSTS
TNG Radiation Hybrid Map3101840.0UniSTS
GeneMap99-GB4 RH Map3695.5UniSTS
Whitehead-RH Map3852.0UniSTS
SHGC-77635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373184,063,796 - 184,063,977UniSTSGRCh37
Build 363185,546,490 - 185,546,671RGDNCBI36
Celera3182,504,695 - 182,504,876RGD
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3q27-q28UniSTS
HuRef3181,470,227 - 181,470,408UniSTS
TNG Radiation Hybrid Map3101837.0UniSTS
GeneMap99-GB4 RH Map3697.3UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 414 3 75 25 74 27 771 17 1084 37 712 145 5 1 578
Low 2024 2351 1637 586 1207 426 3308 1799 2637 382 747 1466 168 1 1203 1933 5 1
Below cutoff 1 632 14 12 665 12 277 380 13 2 277

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA524434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU132760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX089717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB533341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX173337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265593   ⟹   ENSP00000265593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,185 - 184,361,605 (-)Ensembl
RefSeq Acc Id: ENST00000344937   ⟹   ENSP00000345056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,188 - 184,361,602 (-)Ensembl
RefSeq Acc Id: ENST00000430397   ⟹   ENSP00000396231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,221 - 184,357,020 (-)Ensembl
RefSeq Acc Id: ENST00000434054   ⟹   ENSP00000400425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,398 - 184,361,603 (-)Ensembl
RefSeq Acc Id: ENST00000457512   ⟹   ENSP00000391928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,520 - 184,361,603 (-)Ensembl
RefSeq Acc Id: ENST00000465231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,357,972 - 184,358,658 (-)Ensembl
RefSeq Acc Id: ENST00000475279   ⟹   ENSP00000489885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,354,266 - 184,358,049 (-)Ensembl
RefSeq Acc Id: ENST00000485667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,355,055 - 184,361,486 (-)Ensembl
RefSeq Acc Id: ENST00000491162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,352,416 - 184,353,296 (-)Ensembl
RefSeq Acc Id: ENST00000636180   ⟹   ENSP00000490374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,199 - 184,361,629 (-)Ensembl
RefSeq Acc Id: ENST00000636241   ⟹   ENSP00000490299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,353,322 - 184,361,448 (-)Ensembl
RefSeq Acc Id: ENST00000636419   ⟹   ENSP00000489724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,354,189 - 184,354,959 (-)Ensembl
RefSeq Acc Id: ENST00000636492   ⟹   ENSP00000490313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,354,310 - 184,359,107 (-)Ensembl
RefSeq Acc Id: ENST00000636658   ⟹   ENSP00000490875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,354,583 - 184,357,696 (-)Ensembl
RefSeq Acc Id: ENST00000636661   ⟹   ENSP00000490764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,273 - 184,361,650 (-)Ensembl
RefSeq Acc Id: ENST00000636830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,197 - 184,349,566 (-)Ensembl
RefSeq Acc Id: ENST00000636860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,355,911 - 184,357,687 (-)Ensembl
RefSeq Acc Id: ENST00000637258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,352,746 - 184,353,695 (-)Ensembl
RefSeq Acc Id: ENST00000637392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,230 - 184,361,455 (-)Ensembl
RefSeq Acc Id: ENST00000637538   ⟹   ENSP00000490682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,352,294 - 184,357,697 (-)Ensembl
RefSeq Acc Id: ENST00000637909   ⟹   ENSP00000490570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,346,199 - 184,358,741 (-)Ensembl
RefSeq Acc Id: ENST00000638134   ⟹   ENSP00000490659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,353,368 - 184,361,444 (-)Ensembl
RefSeq Acc Id: NM_001171087   ⟹   NP_001164558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,346,185 - 184,361,605 (-)NCBI
GRCh373184,063,973 - 184,079,439 (-)NCBI
HuRef3181,470,404 - 181,485,871 (-)NCBI
CHM1_13184,028,432 - 184,043,898 (-)NCBI
T2T-CHM13v2.03187,155,451 - 187,170,873 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171088   ⟹   NP_001164559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,346,185 - 184,361,605 (-)NCBI
GRCh373184,063,973 - 184,079,439 (-)NCBI
HuRef3181,470,404 - 181,485,871 (-)NCBI
CHM1_13184,028,432 - 184,043,898 (-)NCBI
T2T-CHM13v2.03187,155,451 - 187,170,873 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171089   ⟹   NP_001164560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,346,185 - 184,361,605 (-)NCBI
GRCh373184,063,973 - 184,079,439 (-)NCBI
HuRef3181,470,404 - 181,485,871 (-)NCBI
CHM1_13184,028,432 - 184,043,898 (-)NCBI
T2T-CHM13v2.03187,155,451 - 187,170,873 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004366   ⟹   NP_004357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,346,185 - 184,361,605 (-)NCBI
GRCh373184,063,973 - 184,079,439 (-)NCBI
Build 363185,547,034 - 185,562,085 (-)NCBI Archive
HuRef3181,470,404 - 181,485,871 (-)NCBI
CHM1_13184,028,432 - 184,043,898 (-)NCBI
T2T-CHM13v2.03187,155,451 - 187,170,873 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713489   ⟹   XP_006713552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,346,185 - 184,361,605 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512401   ⟹   XP_011510703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,347,363 - 184,361,605 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447419   ⟹   XP_047303375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,354,100 - 184,361,605 (-)NCBI
RefSeq Acc Id: XM_054345165   ⟹   XP_054201140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03187,155,451 - 187,170,873 (-)NCBI
RefSeq Acc Id: XM_054345166   ⟹   XP_054201141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03187,156,604 - 187,170,873 (-)NCBI
RefSeq Acc Id: XM_054345167   ⟹   XP_054201142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03187,163,368 - 187,170,873 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001164558 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164559 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164560 (Get FASTA)   NCBI Sequence Viewer  
  NP_004357 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713552 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510703 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303375 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201142 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB34722 (Get FASTA)   NCBI Sequence Viewer  
  AAB88807 (Get FASTA)   NCBI Sequence Viewer  
  AAH21578 (Get FASTA)   NCBI Sequence Viewer  
  AAH72004 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33439 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33440 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33441 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33442 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33443 (Get FASTA)   NCBI Sequence Viewer  
  ANF99568 (Get FASTA)   NCBI Sequence Viewer  
  BAG61051 (Get FASTA)   NCBI Sequence Viewer  
  BAG63705 (Get FASTA)   NCBI Sequence Viewer  
  BAG63970 (Get FASTA)   NCBI Sequence Viewer  
  EAW78248 (Get FASTA)   NCBI Sequence Viewer  
  EAW78249 (Get FASTA)   NCBI Sequence Viewer  
  EAW78250 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265593
  ENSP00000265593.4
  ENSP00000345056
  ENSP00000345056.7
  ENSP00000391928
  ENSP00000391928.1
  ENSP00000396231.1
  ENSP00000400425
  ENSP00000400425.2
  ENSP00000489724.1
  ENSP00000489885.1
  ENSP00000490299.1
  ENSP00000490313
  ENSP00000490313.1
  ENSP00000490374.1
  ENSP00000490570.1
  ENSP00000490659.1
  ENSP00000490682.1
  ENSP00000490764.1
  ENSP00000490875.1
GenBank Protein P51788 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001164559   ⟸   NM_001171088
- Peptide Label: isoform 3
- UniProtKB: P51788 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164558   ⟸   NM_001171087
- Peptide Label: isoform 2
- UniProtKB: P51788 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164560   ⟸   NM_001171089
- Peptide Label: isoform 4
- UniProtKB: P51788 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004357   ⟸   NM_004366
- Peptide Label: isoform 1
- UniProtKB: Q8WU13 (UniProtKB/Swiss-Prot),   P51788 (UniProtKB/Swiss-Prot),   Q6IPA9 (UniProtKB/Swiss-Prot),   O14864 (UniProtKB/Swiss-Prot),   E9PCD2 (UniProtKB/Swiss-Prot),   E9PBD9 (UniProtKB/Swiss-Prot),   B4DZ58 (UniProtKB/Swiss-Prot),   B4DQT9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006713552   ⟸   XM_006713489
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011510703   ⟸   XM_011512401
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000490299   ⟸   ENST00000636241
RefSeq Acc Id: ENSP00000490374   ⟸   ENST00000636180
RefSeq Acc Id: ENSP00000490875   ⟸   ENST00000636658
RefSeq Acc Id: ENSP00000490764   ⟸   ENST00000636661
RefSeq Acc Id: ENSP00000489724   ⟸   ENST00000636419
RefSeq Acc Id: ENSP00000490313   ⟸   ENST00000636492
RefSeq Acc Id: ENSP00000490682   ⟸   ENST00000637538
RefSeq Acc Id: ENSP00000490570   ⟸   ENST00000637909
RefSeq Acc Id: ENSP00000490659   ⟸   ENST00000638134
RefSeq Acc Id: ENSP00000391928   ⟸   ENST00000457512
RefSeq Acc Id: ENSP00000396231   ⟸   ENST00000430397
RefSeq Acc Id: ENSP00000400425   ⟸   ENST00000434054
RefSeq Acc Id: ENSP00000489885   ⟸   ENST00000475279
RefSeq Acc Id: ENSP00000265593   ⟸   ENST00000265593
RefSeq Acc Id: ENSP00000345056   ⟸   ENST00000344937
RefSeq Acc Id: XP_047303375   ⟸   XM_047447419
- Peptide Label: isoform X3
- UniProtKB: A0A1B0GUY6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201140   ⟸   XM_054345165
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201141   ⟸   XM_054345166
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054201142   ⟸   XM_054345167
- Peptide Label: isoform X3
- UniProtKB: A0A1B0GUY6 (UniProtKB/TrEMBL)
Protein Domains
CBS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51788-F1-model_v2 AlphaFold P51788 1-898 view protein structure

Promoters
RGD ID:6866470
Promoter ID:EPDNEW_H6400
Type:single initiation site
Name:CLCN2_2
Description:chloride voltage-gated channel 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6401  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,356,991 - 184,357,051EPDNEW
RGD ID:6866472
Promoter ID:EPDNEW_H6401
Type:initiation region
Name:CLCN2_1
Description:chloride voltage-gated channel 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6400  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,361,605 - 184,361,665EPDNEW
RGD ID:6800770
Promoter ID:HG_KWN:46982
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344937,   NM_001171088,   NM_001171089,   OTTHUMT00000345558,   OTTHUMT00000345559,   OTTHUMT00000345560,   OTTHUMT00000345561,   OTTHUMT00000345562,   OTTHUMT00000345563,   OTTHUMT00000345564,   OTTHUMT00000345565,   OTTHUMT00000345566,   OTTHUMT00000345571,   OTTHUMT00000345574,   OTTHUMT00000345575,   UC003FOK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363185,561,981 - 185,563,877 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2020 AgrOrtholog
COSMIC CLCN2 COSMIC
Ensembl Genes ENSG00000114859 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265593 ENTREZGENE
  ENST00000265593.9 UniProtKB/Swiss-Prot
  ENST00000344937 ENTREZGENE
  ENST00000344937.11 UniProtKB/Swiss-Prot
  ENST00000430397.5 UniProtKB/TrEMBL
  ENST00000434054 ENTREZGENE
  ENST00000434054.6 UniProtKB/Swiss-Prot
  ENST00000457512 ENTREZGENE
  ENST00000457512.1 UniProtKB/Swiss-Prot
  ENST00000475279.2 UniProtKB/TrEMBL
  ENST00000636180.1 UniProtKB/TrEMBL
  ENST00000636241.1 UniProtKB/TrEMBL
  ENST00000636419.1 UniProtKB/TrEMBL
  ENST00000636492 ENTREZGENE
  ENST00000636492.1 UniProtKB/TrEMBL
  ENST00000636658.1 UniProtKB/TrEMBL
  ENST00000636661.1 UniProtKB/TrEMBL
  ENST00000637538.1 UniProtKB/TrEMBL
  ENST00000637909.1 UniProtKB/TrEMBL
  ENST00000638134.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.580.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clc chloride channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114859 GTEx
HGNC ID HGNC:2020 ENTREZGENE
Human Proteome Map CLCN2 Human Proteome Map
InterPro CBS_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_volt-gated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1181 UniProtKB/Swiss-Prot
NCBI Gene 1181 ENTREZGENE
OMIM 600570 OMIM
PANTHER CHLORIDE CHANNEL PROTEIN 2 UniProtKB/Swiss-Prot
  CHLORIDE CHANNEL PROTEIN 2 UniProtKB/Swiss-Prot
  CHLORIDE CHANNEL PROTEIN 2 UniProtKB/TrEMBL
  CHLORIDE CHANNEL PROTEIN 2 UniProtKB/TrEMBL
Pfam Voltage_CLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26547 PharmGKB
PRINTS CLCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLCHANNEL2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CBS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54631 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z364_HUMAN UniProtKB/TrEMBL
  A0A0S2Z368_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3E4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3G7_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3J3_HUMAN UniProtKB/TrEMBL
  A0A172ZPS7_HUMAN UniProtKB/TrEMBL
  A0A1B0GTJ3_HUMAN UniProtKB/TrEMBL
  A0A1B0GTY0_HUMAN UniProtKB/TrEMBL
  A0A1B0GUY6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GUZ8_HUMAN UniProtKB/TrEMBL
  A0A1B0GV52_HUMAN UniProtKB/TrEMBL
  A0A1B0GVL9_HUMAN UniProtKB/TrEMBL
  A0A1B0GVU4_HUMAN UniProtKB/TrEMBL
  A0A1B0GVW7_HUMAN UniProtKB/TrEMBL
  A0A1B0GWC8_HUMAN UniProtKB/TrEMBL
  B4DQT9 ENTREZGENE
  B4DZ58 ENTREZGENE
  CLCN2_HUMAN UniProtKB/Swiss-Prot
  E9PBD9 ENTREZGENE
  E9PCD2 ENTREZGENE
  H7C0Q8_HUMAN UniProtKB/TrEMBL
  O14864 ENTREZGENE
  P51788 ENTREZGENE
  Q6IPA9 ENTREZGENE
  Q8WU13 ENTREZGENE
UniProt Secondary B4DQT9 UniProtKB/Swiss-Prot
  B4DZ58 UniProtKB/Swiss-Prot
  E9PBD9 UniProtKB/Swiss-Prot
  E9PCD2 UniProtKB/Swiss-Prot
  O14864 UniProtKB/Swiss-Prot
  Q6IPA9 UniProtKB/Swiss-Prot
  Q8WU13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CLCN2  chloride voltage-gated channel 2  CLCN2  chloride channel, voltage-sensitive 2  Symbol and/or name change 5135510 APPROVED
2012-03-01 CLCN2  chloride channel, voltage-sensitive 2  CLCN2  chloride channel 2  Symbol and/or name change 5135510 APPROVED