CLCN1 (chloride voltage-gated channel 1) - Rat Genome Database
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Gene: CLCN1 (chloride voltage-gated channel 1) Homo sapiens
Analyze
Symbol: CLCN1
Name: chloride voltage-gated channel 1
RGD ID: 734112
Description: Exhibits protein homodimerization activity and voltage-gated chloride channel activity. Involved in chloride transmembrane transport and muscle contraction. Localizes to integral component of plasma membrane. Implicated in myotonia congenita.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chloride channel 1, skeletal muscle; chloride channel protein 1; chloride channel protein, skeletal muscle; chloride channel, voltage-sensitive 1; clC-1; CLC1; MGC138361; MGC142055
Orthologs:
Mus musculus (house mouse) : Clcn1 (chloride channel, voltage-sensitive 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Clcn1 (chloride voltage-gated channel 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Clcn1 (chloride voltage-gated channel 1)
Pan paniscus (bonobo/pygmy chimpanzee) : CLCN1 (chloride voltage-gated channel 1)
Canis lupus familiaris (dog) : CLCN1 (chloride voltage-gated channel 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Clcn1 (chloride voltage-gated channel 1)
Sus scrofa (pig) : CLCN1 (chloride voltage-gated channel 1)
Chlorocebus sabaeus (African green monkey) : CLCN1 (chloride voltage-gated channel 1)
Heterocephalus glaber (naked mole-rat) : Clcn1 (chloride voltage-gated channel 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7143,316,111 - 143,352,083 (+)EnsemblGRCh38hg38GRCh38
GRCh387143,316,111 - 143,352,083 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377143,013,219 - 143,049,097 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,723,341 - 142,759,219 (+)NCBINCBI36hg18NCBI36
Build 347142,530,055 - 142,565,934NCBI
Celera7137,850,084 - 137,885,958 (+)NCBI
Cytogenetic Map7q34NCBI
HuRef7137,350,584 - 137,386,478 (+)NCBIHuRef
CHM1_17142,950,106 - 142,986,018 (+)NCBICHM1_1
CRA_TCAGchr7v27142,415,337 - 142,451,223 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1379744   PMID:3983641   PMID:7581380   PMID:7735894   PMID:7874130   PMID:7981681   PMID:7981750   PMID:8112288   PMID:8301644   PMID:8533761   PMID:8571958   PMID:8741388  
PMID:8845168   PMID:9122265   PMID:9566422   PMID:9736777   PMID:10198195   PMID:10215406   PMID:10690989   PMID:10720929   PMID:11076863   PMID:11113225   PMID:11840191   PMID:11933197  
PMID:12150905   PMID:12150906   PMID:12477932   PMID:12661046   PMID:12691663   PMID:12853948   PMID:14657503   PMID:14718533   PMID:15241802   PMID:15311340   PMID:15623702   PMID:15786415  
PMID:16027167   PMID:16321142   PMID:16567465   PMID:16854622   PMID:17097617   PMID:17107341   PMID:17664348   PMID:17693413   PMID:17826470   PMID:17990293   PMID:17998485   PMID:18035046  
PMID:18220014   PMID:18227271   PMID:18263754   PMID:18321245   PMID:18337100   PMID:18337730   PMID:18624224   PMID:18807109   PMID:18816629   PMID:19211598   PMID:19220292   PMID:19490893  
PMID:19697366   PMID:19773279   PMID:19913121   PMID:19949657   PMID:20047568   PMID:20120005   PMID:20301529   PMID:20379614   PMID:20398785   PMID:20399394   PMID:20628086   PMID:21045501  
PMID:21204798   PMID:21385601   PMID:21413926   PMID:21873635   PMID:22094069   PMID:22106717   PMID:22187529   PMID:22246887   PMID:22407275   PMID:22521272   PMID:22641783   PMID:22649220  
PMID:22689570   PMID:22790975   PMID:23097607   PMID:23113340   PMID:23152584   PMID:23408874   PMID:23417379   PMID:23424641   PMID:23483815   PMID:23603549   PMID:23739125   PMID:23771340  
PMID:23893571   PMID:23933576   PMID:24064982   PMID:24349310   PMID:24452722   PMID:24625573   PMID:25088311   PMID:25205014   PMID:25416956   PMID:26007199   PMID:26021757   PMID:26096614  
PMID:26260254   PMID:26502825   PMID:26510092   PMID:26857341   PMID:27118449   PMID:27324117   PMID:27415035   PMID:27580824   PMID:27639085   PMID:28427807   PMID:29722626   PMID:29809153  
PMID:29896741   PMID:29935101   PMID:30458989   PMID:30487393   PMID:31544778   PMID:31586073   PMID:32296183  


Genomics

Comparative Map Data
CLCN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7143,316,111 - 143,352,083 (+)EnsemblGRCh38hg38GRCh38
GRCh387143,316,111 - 143,352,083 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377143,013,219 - 143,049,097 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,723,341 - 142,759,219 (+)NCBINCBI36hg18NCBI36
Build 347142,530,055 - 142,565,934NCBI
Celera7137,850,084 - 137,885,958 (+)NCBI
Cytogenetic Map7q34NCBI
HuRef7137,350,584 - 137,386,478 (+)NCBIHuRef
CHM1_17142,950,106 - 142,986,018 (+)NCBICHM1_1
CRA_TCAGchr7v27142,415,337 - 142,451,223 (+)NCBI
Clcn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39642,263,552 - 42,292,698 (+)NCBI
GRCm38642,284,851 - 42,315,764 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl642,286,685 - 42,315,756 (+)EnsemblGRCm38mm10GRCm38
MGSCv37642,236,684 - 42,264,655 (+)NCBIGRCm37mm9NCBIm37
MGSCv36642,216,292 - 42,244,263 (+)NCBImm8
Celera642,231,004 - 42,259,063 (+)NCBICelera
Cytogenetic Map6B2.1NCBI
cM Map620.57NCBI
Clcn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0471,674,218 - 71,704,318 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl471,675,383 - 71,702,819 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04136,479,719 - 136,509,472 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4470,052,319 - 70,081,449 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1470,328,448 - 70,357,579 (+)NCBI
Celera466,103,038 - 66,130,477 (+)NCBICelera
Cytogenetic Map4q24NCBI
RH 3.4 Map4433.61RGD
Clcn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955494319,738 - 348,511 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955494318,137 - 349,568 (-)NCBIChiLan1.0ChiLan1.0
CLCN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17147,801,440 - 147,837,654 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7147,801,440 - 147,836,701 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v07135,308,966 - 135,346,734 (+)NCBIMhudiblu_PPA_v0panPan3
CLCN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl166,342,772 - 6,373,580 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1166,342,772 - 6,373,580 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Clcn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936527759,012 - 791,302 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLCN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,902,542 - 6,966,092 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1186,902,540 - 6,941,530 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,143,450 - 7,181,431 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLCN1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl21112,197,518 - 112,236,115 (+)Ensembl
ChlSab1.121112,196,136 - 112,237,836 (+)NCBI
Clcn1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480011,417,040 - 11,446,732 (-)NCBI

Position Markers
GDB:373603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,036,280 - 143,036,488UniSTSGRCh37
Build 367142,746,402 - 142,746,610RGDNCBI36
Celera7137,873,143 - 137,873,351RGD
Cytogenetic Map7q35UniSTS
HuRef7137,373,655 - 137,373,863UniSTS
CRA_TCAGchr7v27142,438,408 - 142,438,616UniSTS
GDB:374988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,013,102 - 143,013,556UniSTSGRCh37
Build 367142,723,224 - 142,723,678RGDNCBI36
Celera7137,849,967 - 137,850,421RGD
Cytogenetic Map7q35UniSTS
HuRef7137,350,467 - 137,350,921UniSTS
CRA_TCAGchr7v27142,415,220 - 142,415,674UniSTS
GDB:375007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,016,765 - 143,017,040UniSTSGRCh37
Build 367142,726,887 - 142,727,162RGDNCBI36
Celera7137,853,630 - 137,853,905RGD
Cytogenetic Map7q35UniSTS
HuRef7137,354,130 - 137,354,405UniSTS
CRA_TCAGchr7v27142,418,883 - 142,419,158UniSTS
GDB:375010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,017,674 - 143,017,957UniSTSGRCh37
Build 367142,727,796 - 142,728,079RGDNCBI36
Celera7137,854,539 - 137,854,822RGD
Cytogenetic Map7q35UniSTS
HuRef7137,355,039 - 137,355,322UniSTS
CRA_TCAGchr7v27142,419,792 - 142,420,075UniSTS
GDB:375013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,018,379 - 143,018,655UniSTSGRCh37
Build 367142,728,501 - 142,728,777RGDNCBI36
Celera7137,855,244 - 137,855,520RGD
Cytogenetic Map7q35UniSTS
HuRef7137,355,744 - 137,356,020UniSTS
CRA_TCAGchr7v27142,420,497 - 142,420,773UniSTS
GDB:375016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,018,738 - 143,018,999UniSTSGRCh37
Build 367142,728,860 - 142,729,121RGDNCBI36
Celera7137,855,603 - 137,855,864RGD
Cytogenetic Map7q35UniSTS
HuRef7137,356,103 - 137,356,364UniSTS
CRA_TCAGchr7v27142,420,856 - 142,421,117UniSTS
GDB:375019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,020,332 - 143,020,550UniSTSGRCh37
Build 367142,730,454 - 142,730,672RGDNCBI36
Celera7137,857,197 - 137,857,415RGD
Cytogenetic Map7q35UniSTS
HuRef7137,357,697 - 137,357,915UniSTS
CRA_TCAGchr7v27142,422,450 - 142,422,668UniSTS
GDB:375022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,021,408 - 143,021,663UniSTSGRCh37
Build 367142,731,530 - 142,731,785RGDNCBI36
Celera7137,858,273 - 137,858,528RGD
Cytogenetic Map7q35UniSTS
HuRef7137,358,773 - 137,359,028UniSTS
CRA_TCAGchr7v27142,423,526 - 142,423,781UniSTS
GDB:375025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,027,784 - 143,028,062UniSTSGRCh37
Build 367142,737,906 - 142,738,184RGDNCBI36
Celera7137,864,649 - 137,864,927RGD
Cytogenetic Map7q35UniSTS
HuRef7137,365,161 - 137,365,439UniSTS
CRA_TCAGchr7v27142,429,914 - 142,430,192UniSTS
GDB:375028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,028,240 - 143,028,477UniSTSGRCh37
Build 367142,738,362 - 142,738,599RGDNCBI36
Celera7137,865,105 - 137,865,342RGD
Cytogenetic Map7q35UniSTS
HuRef7137,365,617 - 137,365,854UniSTS
CRA_TCAGchr7v27142,430,370 - 142,430,607UniSTS
GDB:375031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,028,571 - 143,028,810UniSTSGRCh37
Build 367142,738,693 - 142,738,932RGDNCBI36
Celera7137,865,436 - 137,865,675RGD
Cytogenetic Map7q35UniSTS
HuRef7137,365,948 - 137,366,187UniSTS
CRA_TCAGchr7v27142,430,701 - 142,430,940UniSTS
GDB:375034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,029,434 - 143,029,670UniSTSGRCh37
Build 367142,739,556 - 142,739,792RGDNCBI36
Celera7137,866,299 - 137,866,535RGD
Cytogenetic Map7q35UniSTS
HuRef7137,366,811 - 137,367,047UniSTS
CRA_TCAGchr7v27142,431,564 - 142,431,800UniSTS
GDB:375037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,029,741 - 143,030,024UniSTSGRCh37
Build 367142,739,863 - 142,740,146RGDNCBI36
Celera7137,866,606 - 137,866,889RGD
Cytogenetic Map7q35UniSTS
HuRef7137,367,118 - 137,367,401UniSTS
CRA_TCAGchr7v27142,431,871 - 142,432,154UniSTS
GDB:375040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,036,519 - 143,036,790UniSTSGRCh37
Build 367142,746,641 - 142,746,912RGDNCBI36
Celera7137,873,382 - 137,873,653RGD
Cytogenetic Map7q35UniSTS
HuRef7137,373,894 - 137,374,165UniSTS
CRA_TCAGchr7v27142,438,647 - 142,438,918UniSTS
GDB:375043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,038,974 - 143,039,293UniSTSGRCh37
Build 367142,749,096 - 142,749,415RGDNCBI36
Celera7137,875,834 - 137,876,153RGD
Cytogenetic Map7q35UniSTS
HuRef7137,376,346 - 137,376,665UniSTS
CRA_TCAGchr7v27142,441,099 - 142,441,418UniSTS
GDB:375046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,039,387 - 143,039,666UniSTSGRCh37
Build 367142,749,509 - 142,749,788RGDNCBI36
Celera7137,876,247 - 137,876,526RGD
Cytogenetic Map7q35UniSTS
HuRef7137,376,759 - 137,377,038UniSTS
CRA_TCAGchr7v27142,441,512 - 142,441,791UniSTS
GDB:375049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,042,532 - 143,042,925UniSTSGRCh37
Build 367142,752,654 - 142,753,047RGDNCBI36
Celera7137,879,393 - 137,879,786RGD
Cytogenetic Map7q35UniSTS
HuRef7137,379,913 - 137,380,306UniSTS
CRA_TCAGchr7v27142,444,658 - 142,445,051UniSTS
GDB:375052  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,043,163 - 143,043,417UniSTSGRCh37
Build 367142,753,285 - 142,753,539RGDNCBI36
Celera7137,880,024 - 137,880,278RGD
Cytogenetic Map7q35UniSTS
HuRef7137,380,544 - 137,380,798UniSTS
CRA_TCAGchr7v27142,445,289 - 142,445,543UniSTS
GDB:375055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,043,588 - 143,043,815UniSTSGRCh37
Build 367142,753,710 - 142,753,937RGDNCBI36
Celera7137,880,449 - 137,880,676RGD
Cytogenetic Map7q35UniSTS
HuRef7137,380,969 - 137,381,196UniSTS
CRA_TCAGchr7v27142,445,714 - 142,445,941UniSTS
GDB:375058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,043,929 - 143,044,140UniSTSGRCh37
Build 367142,754,051 - 142,754,262RGDNCBI36
Celera7137,880,790 - 137,881,001RGD
Cytogenetic Map7q35UniSTS
HuRef7137,381,310 - 137,381,521UniSTS
CRA_TCAGchr7v27142,446,055 - 142,446,266UniSTS
GDB:375061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,047,398 - 143,047,653UniSTSGRCh37
Build 367142,757,520 - 142,757,775RGDNCBI36
Celera7137,884,259 - 137,884,514RGD
Cytogenetic Map7q35UniSTS
HuRef7137,384,779 - 137,385,034UniSTS
CRA_TCAGchr7v27142,449,524 - 142,449,779UniSTS
GDB:375064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,047,580 - 143,047,815UniSTSGRCh37
Build 367142,757,702 - 142,757,937RGDNCBI36
Celera7137,884,441 - 137,884,676RGD
Cytogenetic Map7q35UniSTS
HuRef7137,384,961 - 137,385,196UniSTS
CRA_TCAGchr7v27142,449,706 - 142,449,941UniSTS
GDB:375067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,048,611 - 143,049,148UniSTSGRCh37
Build 367142,758,733 - 142,759,270RGDNCBI36
Celera7137,885,472 - 137,886,009RGD
Cytogenetic Map7q35UniSTS
HuRef7137,385,992 - 137,386,529UniSTS
CRA_TCAGchr7v27142,450,737 - 142,451,274UniSTS
GDB:677002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,016,808 - 143,017,040UniSTSGRCh37
Build 367142,726,930 - 142,727,162RGDNCBI36
Celera7137,853,673 - 137,853,905RGD
Cytogenetic Map7q35UniSTS
HuRef7137,354,173 - 137,354,405UniSTS
CRA_TCAGchr7v27142,418,926 - 142,419,158UniSTS
GDB:677007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,017,736 - 143,017,991UniSTSGRCh37
GRCh377143,017,736 - 143,017,961UniSTSGRCh37
Build 367142,727,858 - 142,728,083RGDNCBI36
Celera7137,854,601 - 137,854,856UniSTS
Celera7137,854,601 - 137,854,826RGD
Cytogenetic Map7q35UniSTS
HuRef7137,355,101 - 137,355,326UniSTS
HuRef7137,355,101 - 137,355,356UniSTS
CRA_TCAGchr7v27142,419,854 - 142,420,109UniSTS
CRA_TCAGchr7v27142,419,854 - 142,420,079UniSTS
GDB:677010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,018,401 - 143,018,611UniSTSGRCh37
Build 367142,728,523 - 142,728,733RGDNCBI36
Celera7137,855,266 - 137,855,476RGD
Cytogenetic Map7q35UniSTS
HuRef7137,355,766 - 137,355,976UniSTS
CRA_TCAGchr7v27142,420,519 - 142,420,729UniSTS
GDB:677013  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,018,788 - 143,019,035UniSTSGRCh37
Build 367142,728,910 - 142,729,157RGDNCBI36
Celera7137,855,653 - 137,855,900RGD
Cytogenetic Map7q35UniSTS
HuRef7137,356,153 - 137,356,400UniSTS
CRA_TCAGchr7v27142,420,906 - 142,421,153UniSTS
GDB:677018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,020,273 - 143,020,500UniSTSGRCh37
Build 367142,730,395 - 142,730,622RGDNCBI36
Celera7137,857,138 - 137,857,365RGD
Cytogenetic Map7q35UniSTS
HuRef7137,357,638 - 137,357,865UniSTS
CRA_TCAGchr7v27142,422,391 - 142,422,618UniSTS
GDB:677053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,027,834 - 143,028,092UniSTSGRCh37
Build 367142,737,956 - 142,738,214RGDNCBI36
Celera7137,864,699 - 137,864,957RGD
Cytogenetic Map7q35UniSTS
HuRef7137,365,211 - 137,365,469UniSTS
CRA_TCAGchr7v27142,429,964 - 142,430,222UniSTS
GDB:677067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,028,304 - 143,028,460UniSTSGRCh37
Build 367142,738,426 - 142,738,582RGDNCBI36
Celera7137,865,169 - 137,865,325RGD
Cytogenetic Map7q35UniSTS
HuRef7137,365,681 - 137,365,837UniSTS
CRA_TCAGchr7v27142,430,434 - 142,430,590UniSTS
GDB:677070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,028,586 - 143,028,816UniSTSGRCh37
Build 367142,738,708 - 142,738,938RGDNCBI36
Celera7137,865,451 - 137,865,681RGD
Cytogenetic Map7q35UniSTS
HuRef7137,365,963 - 137,366,193UniSTS
CRA_TCAGchr7v27142,430,716 - 142,430,946UniSTS
GDB:677073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,029,461 - 143,029,638UniSTSGRCh37
Build 367142,739,583 - 142,739,760RGDNCBI36
Celera7137,866,326 - 137,866,503RGD
Cytogenetic Map7q35UniSTS
HuRef7137,366,838 - 137,367,015UniSTS
CRA_TCAGchr7v27142,431,591 - 142,431,768UniSTS
GDB:677079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,036,306 - 143,036,481UniSTSGRCh37
Build 367142,746,428 - 142,746,603RGDNCBI36
Celera7137,873,169 - 137,873,344RGD
Cytogenetic Map7q35UniSTS
HuRef7137,373,681 - 137,373,856UniSTS
CRA_TCAGchr7v27142,438,434 - 142,438,609UniSTS
GDB:677082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,036,566 - 143,036,785UniSTSGRCh37
Build 367142,746,688 - 142,746,907RGDNCBI36
Celera7137,873,429 - 137,873,648RGD
Cytogenetic Map7q35UniSTS
HuRef7137,373,941 - 137,374,160UniSTS
CRA_TCAGchr7v27142,438,694 - 142,438,913UniSTS
GDB:677085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,038,997 - 143,039,256UniSTSGRCh37
Build 367142,749,119 - 142,749,378RGDNCBI36
Celera7137,875,857 - 137,876,116RGD
Cytogenetic Map7q35UniSTS
HuRef7137,376,369 - 137,376,628UniSTS
CRA_TCAGchr7v27142,441,122 - 142,441,381UniSTS
GDB:677099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,043,202 - 143,043,380UniSTSGRCh37
Build 367142,753,324 - 142,753,502RGDNCBI36
Celera7137,880,063 - 137,880,241RGD
Cytogenetic Map7q35UniSTS
HuRef7137,380,583 - 137,380,761UniSTS
CRA_TCAGchr7v27142,445,328 - 142,445,506UniSTS
GDB:677102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,043,649 - 143,043,845UniSTSGRCh37
Build 367142,753,771 - 142,753,967RGDNCBI36
Celera7137,880,510 - 137,880,706RGD
Cytogenetic Map7q35UniSTS
HuRef7137,381,030 - 137,381,226UniSTS
CRA_TCAGchr7v27142,445,775 - 142,445,971UniSTS
GDB:677105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,043,960 - 143,044,130UniSTSGRCh37
Build 367142,754,082 - 142,754,252RGDNCBI36
Celera7137,880,821 - 137,880,991RGD
Cytogenetic Map7q35UniSTS
HuRef7137,381,341 - 137,381,511UniSTS
CRA_TCAGchr7v27142,446,086 - 142,446,256UniSTS
GDB:677108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,047,432 - 143,047,603UniSTSGRCh37
Build 367142,757,554 - 142,757,725RGDNCBI36
Celera7137,884,293 - 137,884,464RGD
Cytogenetic Map7q35UniSTS
HuRef7137,384,813 - 137,384,984UniSTS
CRA_TCAGchr7v27142,449,558 - 142,449,729UniSTS
GDB:677111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,047,640 - 143,047,783UniSTSGRCh37
Build 367142,757,762 - 142,757,905RGDNCBI36
Celera7137,884,501 - 137,884,644RGD
Cytogenetic Map7q35UniSTS
HuRef7137,385,021 - 137,385,164UniSTS
CRA_TCAGchr7v27142,449,766 - 142,449,909UniSTS
GDB:677114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,048,644 - 143,048,872UniSTSGRCh37
Build 367142,758,766 - 142,758,994RGDNCBI36
Celera7137,885,505 - 137,885,733RGD
Cytogenetic Map7q35UniSTS
HuRef7137,386,025 - 137,386,253UniSTS
CRA_TCAGchr7v27142,450,770 - 142,450,998UniSTS
GDB:677117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,048,840 - 143,049,083UniSTSGRCh37
Build 367142,758,962 - 142,759,205RGDNCBI36
Celera7137,885,701 - 137,885,944RGD
Cytogenetic Map7q35UniSTS
HuRef7137,386,221 - 137,386,464UniSTS
CRA_TCAGchr7v27142,450,966 - 142,451,209UniSTS
CLCN1_7765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,048,761 - 143,049,210UniSTSGRCh37
Build 367142,758,883 - 142,759,332RGDNCBI36
Celera7137,885,622 - 137,886,071RGD
HuRef7137,386,142 - 137,386,591UniSTS
CRA_TCAGchr7v27142,450,887 - 142,451,336UniSTS
GDB:1317254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,019,559 - 143,019,648UniSTSGRCh37
Build 367142,729,681 - 142,729,770RGDNCBI36
Celera7137,856,424 - 137,856,513RGD
Cytogenetic Map7q35UniSTS
HuRef7137,356,924 - 137,357,013UniSTS
CRA_TCAGchr7v27142,421,677 - 142,421,766UniSTS
RH71311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,048,866 - 143,049,028UniSTSGRCh37
Build 367142,758,988 - 142,759,150RGDNCBI36
Celera7137,885,727 - 137,885,889RGD
Cytogenetic Map7q35UniSTS
HuRef7137,386,247 - 137,386,409UniSTS
CRA_TCAGchr7v27142,450,992 - 142,451,154UniSTS
GeneMap99-GB4 RH Map7653.5UniSTS
CLCN1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377143,049,032 - 143,049,089UniSTSGRCh37
Build 367142,759,154 - 142,759,211RGDNCBI36
Celera7137,885,893 - 137,885,950RGD
Cytogenetic Map7q35UniSTS
HuRef7137,386,413 - 137,386,470UniSTS
CRA_TCAGchr7v27142,451,158 - 142,451,215UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:984
Count of miRNA genes:541
Interacting mature miRNAs:614
Transcripts:ENST00000343257, ENST00000432192, ENST00000455478, ENST00000495612
Prediction methods:Microtar, 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.


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 3 2 2 1 389 392 2 2 3 387
Low 189 205 60 63 335 34 620 431 73 42 530 75 32 25 432 1
Below cutoff 1777 2264 1462 433 1096 308 2927 992 3316 236 798 1304 132 1 1152 1716 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC073342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY103154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY103155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY103156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z25884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z31372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000343257   ⟹   ENSP00000339867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,316,111 - 143,352,083 (+)Ensembl
RefSeq Acc Id: ENST00000432192   ⟹   ENSP00000395949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,321,474 - 143,330,895 (+)Ensembl
RefSeq Acc Id: ENST00000455478   ⟹   ENSP00000400027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,321,474 - 143,330,895 (+)Ensembl
RefSeq Acc Id: ENST00000495612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,321,474 - 143,330,895 (+)Ensembl
RefSeq Acc Id: ENST00000650516   ⟹   ENSP00000498052
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7143,316,126 - 143,330,897 (+)Ensembl
RefSeq Acc Id: NM_000083   ⟹   NP_000074
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,316,111 - 143,352,083 (+)NCBI
GRCh377143,013,219 - 143,049,097 (+)ENTREZGENE
Build 367142,723,341 - 142,759,219 (+)NCBI Archive
HuRef7137,350,584 - 137,386,478 (+)ENTREZGENE
CHM1_17142,950,106 - 142,986,018 (+)NCBI
CRA_TCAGchr7v27142,415,337 - 142,451,223 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_046453
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,316,111 - 143,352,083 (+)NCBI
GRCh377143,013,219 - 143,049,097 (+)NCBI
HuRef7137,350,584 - 137,386,478 (+)NCBI
CHM1_17142,950,106 - 142,986,018 (+)NCBI
CRA_TCAGchr7v27142,415,337 - 142,451,223 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515782   ⟹   XP_011514084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,331,567 - 143,352,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011739   ⟹   XP_016867228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,319,630 - 143,352,008 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017011740   ⟹   XP_016867229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,319,630 - 143,352,008 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000074   ⟸   NM_000083
- Sequence:
RefSeq Acc Id: XP_011514084   ⟸   XM_011515782
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016867228   ⟸   XM_017011739
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016867229   ⟸   XM_017011740
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000498052   ⟸   ENST00000650516
RefSeq Acc Id: ENSP00000400027   ⟸   ENST00000455478
RefSeq Acc Id: ENSP00000395949   ⟸   ENST00000432192
RefSeq Acc Id: ENSP00000339867   ⟸   ENST00000343257
Protein Domains
CBS

Promoters
RGD ID:7212173
Promoter ID:EPDNEW_H11827
Type:initiation region
Name:CLCN1_1
Description:chloride voltage-gated channel 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387143,316,111 - 143,316,171EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) single nucleotide variant not provided [RCV000517685] Chr7:143330813 [GRCh38]
Chr7:143027906 [GRCh37]
Chr7:7q34
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.469del (p.Leu157fs) deletion Congenital myotonia, autosomal recessive form [RCV000546329] Chr7:143321399 [GRCh38]
Chr7:143018492 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2464G>C (p.Asp822His) single nucleotide variant not specified [RCV000518645] Chr7:143350432 [GRCh38]
Chr7:143047525 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000815375]|not specified [RCV000516361] Chr7:143345614 [GRCh38]
Chr7:143042707 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2847C>T (p.Gly949=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638253]|not specified [RCV000517614] Chr7:143351845 [GRCh38]
Chr7:143048938 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000550715] Chr7:143345578 [GRCh38]
Chr7:143042671 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000527543]|not provided [RCV000516411] Chr7:143331315 [GRCh38]
Chr7:143028408 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.2497A>G (p.Thr833Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000545772] Chr7:143350465 [GRCh38]
Chr7:143047558 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000552273]|Myotonia congenita [RCV001165266]|not provided [RCV000516763] Chr7:143346201 [GRCh38]
Chr7:143043294 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.1612_1613CA[2] (p.Thr539fs) microsatellite Congenital myotonia, autosomal recessive form [RCV001041972]|not provided [RCV000517996] Chr7:143341958..143341959 [GRCh38]
Chr7:143039051..143039052 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1876C>T (p.Arg626Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638229]|not provided [RCV000518160] Chr7:143342451 [GRCh38]
Chr7:143039544 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1261C>T (p.Arg421Cys) single nucleotide variant not provided [RCV000518336] Chr7:143332733 [GRCh38]
Chr7:143029826 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.2419C>T (p.Gln807Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000553148] Chr7:143350387 [GRCh38]
Chr7:143047480 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1405T>C (p.Trp469Arg) single nucleotide variant not specified [RCV000517528] Chr7:143339256 [GRCh38]
Chr7:143036349 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000706509]|not specified [RCV000518081] Chr7:143342094 [GRCh38]
Chr7:143039187 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2287C>A (p.Gln763Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000552498] Chr7:143346581 [GRCh38]
Chr7:143043674 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001049002]|not provided [RCV000517072] Chr7:143341952 [GRCh38]
Chr7:143039045 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638255]|Myotonia congenita [RCV000020098]|not provided [RCV000517885] Chr7:143331265 [GRCh38]
Chr7:143028358 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1412C>T (p.Ser471Phe) single nucleotide variant Myotonia congenita [RCV000020099] Chr7:143339263 [GRCh38]
Chr7:143036356 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1438C>A (p.Pro480Thr) single nucleotide variant Myotonia congenita [RCV000020100] Chr7:143339289 [GRCh38]
Chr7:143036382 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638249]|Myotonia congenita [RCV000020102]|not provided [RCV000711222] Chr7:143341938 [GRCh38]
Chr7:143039031 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001224306]|Myotonia congenita [RCV000020104] Chr7:143342013 [GRCh38]
Chr7:143039106 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.2330del (p.Gly777fs) deletion Myotonia congenita [RCV000020105] Chr7:143346622 [GRCh38]
Chr7:143043715 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2512_2513insCTCA (p.His838fs) insertion Myotonia congenita [RCV000020106] Chr7:143350571..143350572 [GRCh38]
Chr7:143047664..143047665 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.394A>T (p.Ser132Cys) single nucleotide variant Myotonia congenita [RCV000020110] Chr7:143320756 [GRCh38]
Chr7:143017849 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001208684]|Myotonia congenita [RCV000020111] Chr7:143321729 [GRCh38]
Chr7:143018822 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.592C>G (p.Leu198Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000545021]|Myotonia congenita [RCV000020112]|not provided [RCV000517112] Chr7:143321744 [GRCh38]
Chr7:143018837 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000763168]|Myotonia congenita [RCV000020114]|not provided [RCV000497783] Chr7:143324442 [GRCh38]
Chr7:143021535 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000083.3(CLCN1):c.847C>T (p.Leu283Phe) single nucleotide variant Myotonia congenita [RCV000020115] Chr7:143324486 [GRCh38]
Chr7:143021579 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.857T>C (p.Val286Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000814585]|Myotonia congenita [RCV000020116] Chr7:143330775 [GRCh38]
Chr7:143027868 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000477848]|Myotonia congenita [RCV000020118]|not provided [RCV000483128] Chr7:143330838 [GRCh38]
Chr7:143027931 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met) single nucleotide variant Myotonia congenita [RCV000020119]|not provided [RCV000516849] Chr7:143330847 [GRCh38]
Chr7:143027940 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638231]|Myotonia [RCV001196602]|Myotonia [RCV001197142]|Myotonia congenita [RCV000020120]|not provided [RCV000224894] Chr7:143330855 [GRCh38]
Chr7:143027948 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1605C>T (p.Ala535=) single nucleotide variant not specified [RCV000518533] Chr7:143341951 [GRCh38]
Chr7:143039044 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1471+1G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638235]|not provided [RCV000517639] Chr7:143339323 [GRCh38]
Chr7:143036416 [GRCh37]
Chr7:7q34
pathogenic
NG_009815.1:g.19647-?_28496+?dup duplication Congenital myotonia, autosomal recessive form [RCV000033240] Chr7:7q35 pathogenic
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000184008]|Congenital myotonia, autosomal recessive form [RCV000019083]|Congenital myotonia, autosomal recessive form [RCV000638232]|not provided [RCV000346725] Chr7:143332490 [GRCh38]
Chr7:143029583 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000019084]|Congenital myotonia, autosomal recessive form [RCV000627758]|Myotonia congenita [RCV000020113]|not provided [RCV000291823] Chr7:143321841 [GRCh38]
Chr7:143018934 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000019085]|Congenital myotonia, autosomal recessive form [RCV000638250]|Myotonia congenita [RCV000020108]|not provided [RCV000478940] Chr7:143351793 [GRCh38]
Chr7:143048886 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.979+1G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000019086] Chr7:143330898 [GRCh38]
Chr7:143027991 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1488G>T (p.Arg496Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000019087]|Congenital myotonia, autosomal recessive form [RCV000692794] Chr7:143339527 [GRCh38]
Chr7:143036620 [GRCh37]
Chr7:7q34
pathogenic
CLCN1, GLY482ARG variation Congenital myotonia, autosomal recessive form [RCV000019088] Chr7:7q35 pathogenic
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000019089]|Congenital myotonia, autosomal recessive form [RCV001237767]|Myotonia congenita [RCV000020101] Chr7:143339290 [GRCh38]
Chr7:143036383 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV001253100]|Congenital myotonia, autosomal recessive form [RCV000685420]|Myotonia congenita [RCV000020103]|Myotonia levior [RCV000019090]|not provided [RCV000498537] Chr7:143342001 [GRCh38]
Chr7:143039094 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000019091]|Congenital myotonia, autosomal recessive form [RCV000690053]|Handgrip myotonia [RCV001196224]|Muscle cramps [RCV001198978]|Myotonia [RCV000626584]|Myotonia congenita [RCV000020117]|Myotonia with warm-up phenomenon [RCV001199046]|not provided [RCV000711241] Chr7:143330788 [GRCh38]
Chr7:143027881 [GRCh37]
Chr7:7q34
pathogenic
CLCN1, 14-BP DEL deletion Congenital myotonia, autosomal recessive form [RCV000019092] Chr7:7q35 pathogenic
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000019093]|Congenital myotonia, autosomal recessive form [RCV001041229] Chr7:143330789 [GRCh38]
Chr7:143027882 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) single nucleotide variant Cerebral atrophy [RCV001198187]|Congenital myotonia, autosomal dominant form [RCV000019095]|Congenital myotonia, autosomal recessive form [RCV000019094]|Congenital myotonia, autosomal recessive form [RCV000763169]|Migraine [RCV000626585]|Myotonia congenita [RCV000020121]|not provided [RCV000516960] Chr7:143330868 [GRCh38]
Chr7:143027961 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000019096] Chr7:143339534 [GRCh38]
Chr7:143036627 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.830dup (p.Cys277fs) duplication Congenital myotonia, autosomal recessive form [RCV000019097] Chr7:143324468..143324469 [GRCh38]
Chr7:143021561..143021562 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000019099]|Congenital myotonia, autosomal recessive form [RCV000019098]|Congenital myotonia, autosomal recessive form [RCV000627759]|Elevated serum creatine phosphokinase [RCV001197765]|Myopathy [RCV000626582]|Myotonia [RCV001196603]|Myotonia congenita [RCV000020107]|not provided [RCV000292791] Chr7:143351678 [GRCh38]
Chr7:143048771 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000019100]|Congenital myotonia, autosomal recessive form [RCV001049292]|Myotonia congenita [RCV000020109] Chr7:143320744 [GRCh38]
Chr7:143017837 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.898_900delinsTGA (p.Arg300Ter) indel Congenital myotonia, autosomal recessive form [RCV000019101] Chr7:143330816..143330818 [GRCh38]
Chr7:143027909..143027911 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000019102] Chr7:143321718 [GRCh38]
Chr7:143018811 [GRCh37]
Chr7:7q34
pathogenic
CLCN1, TRP433ARG variation Congenital myotonia, autosomal dominant form [RCV000019103]|Congenital myotonia, autosomal recessive form [RCV000019104] Chr7:7q35 pathogenic
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) single nucleotide variant not provided [RCV000517508] Chr7:143332734 [GRCh38]
Chr7:143029827 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1401+1G>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001060222]|not provided [RCV000516613] Chr7:143332874 [GRCh38]
Chr7:143029967 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638252]|not provided [RCV000517879] Chr7:143330897 [GRCh38]
Chr7:143027990 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2403+4A>C single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638256]|not specified [RCV000516543] Chr7:143346953 [GRCh38]
Chr7:143044046 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000525733] Chr7:143345602 [GRCh38]
Chr7:143042695 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met) single nucleotide variant not provided [RCV000518548] Chr7:143341976 [GRCh38]
Chr7:143039069 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.434-2_434dup duplication Congenital myotonia, autosomal recessive form [RCV000550058] Chr7:143321360..143321361 [GRCh38]
Chr7:143018453..143018454 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.762C>T (p.Cys254=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000545204] Chr7:143323374 [GRCh38]
Chr7:143020467 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1261dup (p.Arg421fs) duplication Congenital myotonia, autosomal recessive form [RCV000691433]|Congenital myotonia, autosomal recessive form [RCV001193451]|not provided [RCV000516577] Chr7:143332729..143332730 [GRCh38]
Chr7:143029822..143029823 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1903A>G (p.Lys635Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000660617]|not provided [RCV000519934] Chr7:143342478 [GRCh38]
Chr7:143039571 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.547T>C (p.Ser183Pro) single nucleotide variant not specified [RCV000517953] Chr7:143321478 [GRCh38]
Chr7:143018571 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.286T>C (p.Tyr96His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000547104] Chr7:143319860 [GRCh38]
Chr7:143016953 [GRCh37]
Chr7:7q34
uncertain significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
NM_000083.2(CLCN1):c.613G>A (p.Glu205Lys) single nucleotide variant Malignant melanoma [RCV000067715] Chr7:143321765 [GRCh38]
Chr7:143018858 [GRCh37]
Chr7:142728980 [NCBI36]
Chr7:7q34
not provided
NM_000083.2(CLCN1):c.2297C>T (p.Ser766Phe) single nucleotide variant Malignant melanoma [RCV000067716] Chr7:143346591 [GRCh38]
Chr7:143043684 [GRCh37]
Chr7:142753806 [NCBI36]
Chr7:7q34
not provided
NM_000083.2(CLCN1):c.2338C>T (p.Arg780Cys) single nucleotide variant Malignant melanoma [RCV000061579] Chr7:143346632 [GRCh38]
Chr7:143043725 [GRCh37]
Chr7:142753847 [NCBI36]
Chr7:7q34
not provided
NM_001031690.2(FAM131B):c.937G>A (p.Glu313Lys) single nucleotide variant Malignant melanoma [RCV000067717] Chr7:143356696 [GRCh38]
Chr7:143053789 [GRCh37]
Chr7:142763911 [NCBI36]
Chr7:7q34
not provided
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
NM_000083.3(CLCN1):c.774+1G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000543122]|Myotonia congenita [RCV000305146]|not provided [RCV000254934] Chr7:143323387 [GRCh38]
Chr7:143020480 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000535831]|Myotonia congenita [RCV000195160]|not provided [RCV000180791] Chr7:143351924 [GRCh38]
Chr7:143049017 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000184022]|Congenital myotonia, autosomal recessive form [RCV001053528] Chr7:143350637 [GRCh38]
Chr7:143047730 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000543464]|Myotonia congenita [RCV000262113]|not specified [RCV000437690] Chr7:143332781 [GRCh38]
Chr7:143029874 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000701519]|Myotonia congenita [RCV000193137]|not provided [RCV000518351] Chr7:143332755 [GRCh38]
Chr7:143029848 [GRCh37]
Chr7:7q34
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000793565]|Myotonia congenita [RCV000194136] Chr7:143341995 [GRCh38]
Chr7:143039088 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000191068]|Congenital myotonia, autosomal recessive form [RCV000191070]|Congenital myotonia, autosomal recessive form [RCV000556194]|Myotonia [RCV000415172]|Myotonia [RCV001196629]|Myotonia congenita [RCV000343760]|not provided [RCV000711233]|not specified [RCV000479583] Chr7:143321432 [GRCh38]
Chr7:143018525 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) indel Congenital myotonia, autosomal recessive form [RCV000191069]|Congenital myotonia, autosomal recessive form [RCV000530150]|Myocardial infarction [RCV000626583]|not provided [RCV000489144] Chr7:143321720..143321721 [GRCh38]
Chr7:143018813..143018814 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.180+3A>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000763167]|Congenital myotonia, autosomal recessive form [RCV000995506]|not provided [RCV000484389] Chr7:143316395 [GRCh38]
Chr7:143013488 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter) indel Congenital myotonia, autosomal recessive form [RCV000638230]|not provided [RCV000518248] Chr7:143330816..143330817 [GRCh38]
Chr7:143027909..143027910 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2937C>T (p.Asp979=) single nucleotide variant not provided [RCV000547315]|not specified [RCV000607562] Chr7:143351935 [GRCh38]
Chr7:143049028 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2197C>T (p.Pro733Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001042976] Chr7:143346164 [GRCh38]
Chr7:143043257 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2284+5C>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000545584]|Myotonia [RCV001199130]|Myotonia congenita [RCV000407412]|not specified [RCV000238941] Chr7:143346256 [GRCh38]
Chr7:143043349 [GRCh37]
Chr7:7q34
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000660618]|Congenital myotonia, autosomal recessive form [RCV001086594]|Myotonia congenita [RCV000404319]|not provided [RCV000513813]|not specified [RCV000239241] Chr7:143330817 [GRCh38]
Chr7:143027910 [GRCh37]
Chr7:7q34
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter) single nucleotide variant not provided [RCV000516826] Chr7:143330826 [GRCh38]
Chr7:143027919 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.352= (p.Gly118=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000524844]|not specified [RCV000517094] Chr7:143320714 [GRCh38]
Chr7:143017807 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1129C>T (p.Arg377Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000695020]|not provided [RCV000517902] Chr7:143331615 [GRCh38]
Chr7:143028708 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter) single nucleotide variant not provided [RCV000518686] Chr7:143330867 [GRCh38]
Chr7:143027960 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638263]|Myotonia congenita [RCV000279484]|not specified [RCV000518175] Chr7:143346197 [GRCh38]
Chr7:143043290 [GRCh37]
Chr7:7q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) single nucleotide variant Myotonia congenita [RCV000277353] Chr7:143342127 [GRCh38]
Chr7:143039220 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2461_2463delinsCTC (p.Ile821Leu) indel not specified [RCV000517809] Chr7:143350429..143350431 [GRCh38]
Chr7:143047522..143047524 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=) single nucleotide variant Myotonia congenita [RCV000283505] Chr7:143345744 [GRCh38]
Chr7:143042837 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001081054]|Myotonia congenita [RCV000333925]|not provided [RCV000542191]|not specified [RCV000608059] Chr7:143321381 [GRCh38]
Chr7:143018474 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.261C>T (p.Thr87=) single nucleotide variant Myotonia congenita [RCV000353487]|not specified [RCV000429709] Chr7:143319835 [GRCh38]
Chr7:143016928 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) single nucleotide variant Myotonia congenita [RCV000270859]|not provided [RCV000414193] Chr7:143351784 [GRCh38]
Chr7:143048877 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000548708]|Myotonia congenita [RCV000318718]|not specified [RCV000603988] Chr7:143320678 [GRCh38]
Chr7:143017771 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) single nucleotide variant Myotonia congenita [RCV000402752]|not provided [RCV000991821] Chr7:143350609 [GRCh38]
Chr7:143047702 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.*29C>T single nucleotide variant Myotonia congenita [RCV000271885] Chr7:143351994 [GRCh38]
Chr7:143049087 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1797-9C>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000549398]|Myotonia congenita [RCV000326736]|not specified [RCV000443936] Chr7:143342363 [GRCh38]
Chr7:143039456 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000554887]|Myotonia congenita [RCV000288833]|not specified [RCV000431371] Chr7:143321392 [GRCh38]
Chr7:143018485 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.651C>T (p.Val217=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000531036]|Myotonia congenita [RCV000289867]|not specified [RCV000441602] Chr7:143321803 [GRCh38]
Chr7:143018896 [GRCh37]
Chr7:7q34
benign|likely benign|conflicting interpretations of pathogenicity
NM_000083.3(CLCN1):c.2124C>T (p.Phe708=) single nucleotide variant Myotonia congenita [RCV000327906]|not provided [RCV000913064] Chr7:143345714 [GRCh38]
Chr7:143042807 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000532599]|Myotonia congenita [RCV000340198]|not specified [RCV000422950] Chr7:143321815 [GRCh38]
Chr7:143018908 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000557749]|Myotonia congenita [RCV000360277]|not specified [RCV000445071] Chr7:143324443 [GRCh38]
Chr7:143021536 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000527038]|Myotonia congenita [RCV000377997]|not specified [RCV000430058] Chr7:143345726 [GRCh38]
Chr7:143042819 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000560216]|not provided [RCV000305463] Chr7:143330772 [GRCh38]
Chr7:143027865 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV001252999]|Congenital myotonia, autosomal recessive form [RCV000638257]|Myotonia congenita [RCV000778823]|not provided [RCV000342021] Chr7:143339304 [GRCh38]
Chr7:143036397 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001089201]|Myotonia congenita [RCV000407398]|not provided [RCV000711228] Chr7:143346174 [GRCh38]
Chr7:143043267 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001057136]|Myotonia congenita [RCV000331292] Chr7:143332868 [GRCh38]
Chr7:143029961 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu) single nucleotide variant Myotonia congenita [RCV000343234]|not specified [RCV000427667] Chr7:143346147 [GRCh38]
Chr7:143043240 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.434-14A>G single nucleotide variant Myotonia congenita [RCV000292970]|not specified [RCV000442099] Chr7:143321351 [GRCh38]
Chr7:143018444 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.-21C>T single nucleotide variant Myotonia congenita [RCV000310862]|not specified [RCV000436419] Chr7:143316192 [GRCh38]
Chr7:143013285 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001086283]|Myotonia congenita [RCV000381389]|not provided [RCV000710099]|not specified [RCV000481491] Chr7:143342417 [GRCh38]
Chr7:143039510 [GRCh37]
Chr7:7q34
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000559655]|Myotonia congenita [RCV000307306] Chr7:143351899 [GRCh38]
Chr7:143048992 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000532970]|Myotonia congenita [RCV000334491]|not specified [RCV000427675] Chr7:143346211 [GRCh38]
Chr7:143043304 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.1251+11G>T single nucleotide variant Myotonia congenita [RCV000356921] Chr7:143332514 [GRCh38]
Chr7:143029607 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000541983]|Myotonia congenita [RCV000387178] Chr7:143320731 [GRCh38]
Chr7:143017824 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000700433]|Myotonia congenita [RCV000368010]|not provided [RCV000711230] Chr7:143350604 [GRCh38]
Chr7:143047697 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.563-9C>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000874238]|Myotonia congenita [RCV000391751] Chr7:143321706 [GRCh38]
Chr7:143018799 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.314G>A (p.Arg105His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000536073]|Myotonia congenita [RCV000263405] Chr7:143320676 [GRCh38]
Chr7:143017769 [GRCh37]
Chr7:7q34
benign|likely benign|uncertain significance
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001257057]|Myotonia congenita [RCV000361953]|not provided [RCV000711240]|not specified [RCV000442751] Chr7:143316298 [GRCh38]
Chr7:143013391 [GRCh37]
Chr7:7q34
benign|likely benign|uncertain significance
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) single nucleotide variant Myotonia congenita [RCV000387932] Chr7:143321382 [GRCh38]
Chr7:143018475 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001078695]|Myotonia congenita [RCV000297363]|not provided [RCV000481219] Chr7:143332457 [GRCh38]
Chr7:143029550 [GRCh37]
Chr7:7q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001086850]|Myotonia congenita [RCV000266244]|not provided [RCV000710100]|not specified [RCV000429129] Chr7:143316238 [GRCh38]
Chr7:143013331 [GRCh37]
Chr7:7q34
benign|likely benign|conflicting interpretations of pathogenicity
NM_000083.3(CLCN1):c.2364+10G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001086202]|Myotonia congenita [RCV000299390]|not provided [RCV000512799]|not specified [RCV000604401] Chr7:143346668 [GRCh38]
Chr7:143043761 [GRCh37]
Chr7:7q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.*29C>A single nucleotide variant Myotonia congenita [RCV000366724] Chr7:143351994 [GRCh38]
Chr7:143049087 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.1402-9C>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000576541]|Myotonia congenita [RCV000367247]|not specified [RCV000434508] Chr7:143339244 [GRCh38]
Chr7:143036337 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) duplication Congenital myotonia, autosomal recessive form [RCV000705425]|not provided [RCV000307053] Chr7:143351825..143351826 [GRCh38]
Chr7:143048918..143048919 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.1401+17T>C single nucleotide variant not specified [RCV000320814] Chr7:143332890 [GRCh38]
Chr7:143029983 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) deletion not provided [RCV000370138] Chr7:143345611 [GRCh38]
Chr7:143042704 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2364+2T>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001037641]|not provided [RCV000391842] Chr7:143346660 [GRCh38]
Chr7:143043753 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) deletion Autosomal dominant intermediate Charcot-Marie-Tooth disease [RCV000664241]|Congenital myotonia, autosomal dominant form [RCV001262336]|Congenital myotonia, autosomal recessive form [RCV000552780]|Myotonia congenita [RCV000778142]|not provided [RCV000395981] Chr7:143339287..143339300 [GRCh38]
Chr7:143036380..143036393 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000530513]|not provided [RCV000711236] Chr7:143321720 [GRCh38]
Chr7:143018813 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) single nucleotide variant Myotonia congenita [RCV000266956] Chr7:143316368 [GRCh38]
Chr7:143013461 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001084293]|Myotonia congenita [RCV001161643]|not provided [RCV000513242]|not specified [RCV000364922] Chr7:143332864 [GRCh38]
Chr7:143029957 [GRCh37]
Chr7:7q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.921_932del (p.Ala308_Phe311del) deletion Congenital myotonia, autosomal recessive form [RCV000696073]|not specified [RCV000518597] Chr7:143330837..143330848 [GRCh38]
Chr7:143027930..143027941 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1930G>A (p.Asp644Asn) single nucleotide variant not provided [RCV000520134] Chr7:143342505 [GRCh38]
Chr7:143039598 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) single nucleotide variant not provided [RCV000489990] Chr7:143331583 [GRCh38]
Chr7:143028676 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000701179]|Congenital myotonia, autosomal recessive form [RCV001030775]|not provided [RCV000488375] Chr7:143331264 [GRCh38]
Chr7:143028357 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg) single nucleotide variant Myotonia congenita [RCV000291704] Chr7:143342442 [GRCh38]
Chr7:143039535 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu) single nucleotide variant Myotonia congenita [RCV000302620] Chr7:143316269 [GRCh38]
Chr7:143013362 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) single nucleotide variant Myotonia congenita [RCV000317482] Chr7:143319789 [GRCh38]
Chr7:143016882 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2411C>T (p.Ala804Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638234] Chr7:143350379 [GRCh38]
Chr7:143047472 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2564G>A (p.Gly855Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638243] Chr7:143350623 [GRCh38]
Chr7:143047716 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638246] Chr7:143345590 [GRCh38]
Chr7:143042683 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.635T>G (p.Phe212Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638247] Chr7:143321787 [GRCh38]
Chr7:143018880 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.120G>C (p.Gly40=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638264] Chr7:143316332 [GRCh38]
Chr7:143013425 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys) single nucleotide variant Myotonia congenita [RCV000369167] Chr7:143351711 [GRCh38]
Chr7:143048804 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001071563]|not specified [RCV000518465] Chr7:143324465 [GRCh38]
Chr7:143021558 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.756G>A (p.Val252=) single nucleotide variant Myotonia congenita [RCV000391740] Chr7:143323368 [GRCh38]
Chr7:143020461 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2596-1G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000813032]|not provided [RCV000522584] Chr7:143351593 [GRCh38]
Chr7:143048686 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000798907]|Myotonia congenita [RCV001161762]|not provided [RCV000711231] Chr7:143351862 [GRCh38]
Chr7:143048955 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.1167-3C>T single nucleotide variant not specified [RCV000516489] Chr7:143332416 [GRCh38]
Chr7:143029509 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1179T>A (p.Tyr393Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000802171]|not provided [RCV000578533] Chr7:143332431 [GRCh38]
Chr7:143029524 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) single nucleotide variant not provided [RCV000592862] Chr7:143332474 [GRCh38]
Chr7:143029567 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg) single nucleotide variant not provided [RCV000517249] Chr7:143324450 [GRCh38]
Chr7:143021543 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1096G>T (p.Val366Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000811322]|not specified [RCV000517339] Chr7:143331582 [GRCh38]
Chr7:143028675 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.25C>A (p.Arg9Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000817468] Chr7:143316237 [GRCh38]
Chr7:143013330 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.563G>T (p.Gly188Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000532409] Chr7:143321715 [GRCh38]
Chr7:143018808 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000555433] Chr7:143345646 [GRCh38]
Chr7:143042739 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000815779]|not provided [RCV000518447] Chr7:143323375 [GRCh38]
Chr7:143020468 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.892G>A (p.Ala298Thr) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000761298]|Congenital myotonia, autosomal recessive form [RCV000638241]|not provided [RCV000991830] Chr7:143330810 [GRCh38]
Chr7:143027903 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000714895]|Congenital myotonia, autosomal recessive form [RCV000638251]|Congenital myotonia, autosomal recessive form [RCV000714896] Chr7:143316351 [GRCh38]
Chr7:143013444 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2931_2932CA[1] (p.Thr978fs) microsatellite not provided [RCV000522461] Chr7:143351929..143351930 [GRCh38]
Chr7:143049022..143049023 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000794580]|Myotonia [RCV000415403]|Myotonia [RCV001196630] Chr7:143351633 [GRCh38]
Chr7:143048726 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.302-4C>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000559881]|Myotonia congenita [RCV001161534]|not specified [RCV000612704] Chr7:143320660 [GRCh38]
Chr7:143017753 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000541514] Chr7:143319794 [GRCh38]
Chr7:143016887 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.133A>G (p.Arg45Gly) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000560556] Chr7:143316345 [GRCh38]
Chr7:143013438 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) single nucleotide variant not provided [RCV000538093] Chr7:143345543 [GRCh38]
Chr7:143042636 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.264G>A (p.Val88=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000558306] Chr7:143319838 [GRCh38]
Chr7:143016931 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000538282] Chr7:143345637 [GRCh38]
Chr7:143042730 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.749T>C (p.Met250Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000814239] Chr7:143323361 [GRCh38]
Chr7:143020454 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.434-5C>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000526192] Chr7:143321360 [GRCh38]
Chr7:143018453 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_000083.3(CLCN1):c.301G>A (p.Asp101Asn) single nucleotide variant not specified [RCV000518821] Chr7:143319875 [GRCh38]
Chr7:143016968 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000083.3(CLCN1):c.2509-16T>G single nucleotide variant not specified [RCV000423672] Chr7:143350552 [GRCh38]
Chr7:143047645 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2284+19G>A single nucleotide variant not specified [RCV000423982] Chr7:143346270 [GRCh38]
Chr7:143043363 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1583-12G>A single nucleotide variant not specified [RCV000421054] Chr7:143341917 [GRCh38]
Chr7:143039010 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1977C>A (p.Ala659=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000951691]|not specified [RCV000427634] Chr7:143345567 [GRCh38]
Chr7:143042660 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000554355]|Myotonia congenita [RCV001163170]|not specified [RCV000441710] Chr7:143342390 [GRCh38]
Chr7:143039483 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.854-8C>T single nucleotide variant not specified [RCV000442017] Chr7:143330764 [GRCh38]
Chr7:143027857 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.-16C>G single nucleotide variant not specified [RCV000418629] Chr7:143316197 [GRCh38]
Chr7:143013290 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2883G>C (p.Gly961=) single nucleotide variant not specified [RCV000435278] Chr7:143351881 [GRCh38]
Chr7:143048974 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.900G>A (p.Arg300=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638259]|Myotonia congenita [RCV001158440]|not specified [RCV000439162] Chr7:143330818 [GRCh38]
Chr7:143027911 [GRCh37]
Chr7:7q34
benign|likely benign
NM_000083.3(CLCN1):c.-15T>G single nucleotide variant not specified [RCV000428820] Chr7:143316198 [GRCh38]
Chr7:143013291 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1065-16T>C single nucleotide variant not specified [RCV000419501] Chr7:143331535 [GRCh38]
Chr7:143028628 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2541C>T (p.His847=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000870877]|not specified [RCV000436110] Chr7:143350600 [GRCh38]
Chr7:143047693 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.-14C>A single nucleotide variant not specified [RCV000439971] Chr7:143316199 [GRCh38]
Chr7:143013292 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.633C>T (p.Ala211=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000556421]|not specified [RCV000437071] Chr7:143321785 [GRCh38]
Chr7:143018878 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1663C>T (p.His555Tyr) single nucleotide variant not provided [RCV000437007] Chr7:143342009 [GRCh38]
Chr7:143039102 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.720C>T (p.Ser240=) single nucleotide variant not specified [RCV000423323] Chr7:143323332 [GRCh38]
Chr7:143020425 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000536748]|not provided [RCV000484220] Chr7:143332829 [GRCh38]
Chr7:143029922 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001202235]|not provided [RCV000484331] Chr7:143345616 [GRCh38]
Chr7:143042709 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.696G>A (p.Glu232=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000807571]|not provided [RCV000484576] Chr7:143321848 [GRCh38]
Chr7:143018941 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.707T>C (p.Val236Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001053739]|not provided [RCV000484110] Chr7:143323319 [GRCh38]
Chr7:143020412 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.1388T>G (p.Phe463Cys) single nucleotide variant not specified [RCV000485989] Chr7:143332860 [GRCh38]
Chr7:143029953 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001088318]|not provided [RCV000711220] Chr7:143339519 [GRCh38]
Chr7:143036612 [GRCh37]
Chr7:7q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.544A>G (p.Ile182Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001216010]|not provided [RCV000487004] Chr7:143321475 [GRCh38]
Chr7:143018568 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.652G>A (p.Ala218Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000803459]|not provided [RCV000487022] Chr7:143321804 [GRCh38]
Chr7:143018897 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) insertion not provided [RCV000766930]|not specified [RCV000478548] Chr7:143345652..143345653 [GRCh38]
Chr7:143042745..143042746 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.260_261delinsTT (p.Thr87Ile) indel not provided [RCV000483056] Chr7:143319834..143319835 [GRCh38]
Chr7:143016927..143016928 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.37C>A (p.Gln13Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001202209]|not provided [RCV000478896] Chr7:143316249 [GRCh38]
Chr7:143013342 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_000083.3(CLCN1):c.907T>G (p.Trp303Gly) single nucleotide variant not provided [RCV000498675] Chr7:143330825 [GRCh38]
Chr7:143027918 [GRCh37]
Chr7:7q34
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000083.3(CLCN1):c.2403+5G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000689048]|not provided [RCV000498136] Chr7:143346954 [GRCh38]
Chr7:143044047 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_000083.3(CLCN1):c.853+17C>A single nucleotide variant not provided [RCV000493762] Chr7:143324509 [GRCh38]
Chr7:143021602 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000536398]|not provided [RCV000494058] Chr7:143332483 [GRCh38]
Chr7:143029576 [GRCh37]
Chr7:7q34
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter) single nucleotide variant not provided [RCV000494185] Chr7:143346947 [GRCh38]
Chr7:143044040 [GRCh37]
Chr7:7q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000083.3(CLCN1):c.434-10G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638233] Chr7:143321355 [GRCh38]
Chr7:143018448 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.266A>G (p.Asp89Gly) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638239] Chr7:143319840 [GRCh38]
Chr7:143016933 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638237]|Myotonia congenita [RCV001158441] Chr7:143331609 [GRCh38]
Chr7:143028702 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.922G>C (p.Ala308Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638240] Chr7:143330840 [GRCh38]
Chr7:143027933 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.635T>C (p.Phe212Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638244] Chr7:143321787 [GRCh38]
Chr7:143018880 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1689T>A (p.Val563=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638261] Chr7:143342035 [GRCh38]
Chr7:143039128 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.432G>A (p.Gln144=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638265] Chr7:143320794 [GRCh38]
Chr7:143017887 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000626180] Chr7:143324418 [GRCh38]
Chr7:143021511 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1167-10T>C single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000540290]|Congenital myotonia, autosomal recessive form [RCV000987989]|not provided [RCV000711215] Chr7:143332409 [GRCh38]
Chr7:143029502 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1241T>C (p.Met414Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638242] Chr7:143332493 [GRCh38]
Chr7:143029586 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2239C>T (p.Pro747Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638248] Chr7:143346206 [GRCh38]
Chr7:143043299 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638245] Chr7:143346225 [GRCh38]
Chr7:143043318 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.100G>A (p.Gly34Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638254] Chr7:143316312 [GRCh38]
Chr7:143013405 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.378dup (p.Leu127fs) duplication not provided [RCV000524063] Chr7:143320739..143320740 [GRCh38]
Chr7:143017832..143017833 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.664G>A (p.Gly222Ser) single nucleotide variant Inborn genetic diseases [RCV000624565] Chr7:143321816 [GRCh38]
Chr7:143018909 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1482T>C (p.Phe494=) single nucleotide variant not specified [RCV000605836] Chr7:143339521 [GRCh38]
Chr7:143036614 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.655C>T (p.Leu219=) single nucleotide variant not specified [RCV000616016] Chr7:143321807 [GRCh38]
Chr7:143018900 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2509-3C>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638260]|not specified [RCV000610232] Chr7:143350565 [GRCh38]
Chr7:143047658 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1593G>A (p.Ala531=) single nucleotide variant Myotonia congenita [RCV001161645]|not provided [RCV000940277]|not specified [RCV000610863] Chr7:143341939 [GRCh38]
Chr7:143039032 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1918del (p.Val640fs) deletion Congenital myotonia, autosomal recessive form [RCV000538778] Chr7:143342492 [GRCh38]
Chr7:143039585 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001041504]|Myotonia congenita [RCV001163172]|not specified [RCV000609340] Chr7:143342438 [GRCh38]
Chr7:143039531 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.153C>T (p.Gly51=) single nucleotide variant not specified [RCV000604052] Chr7:143316365 [GRCh38]
Chr7:143013458 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1027T>C (p.Phe343Leu) single nucleotide variant Myotonia [RCV000626580] Chr7:143331279 [GRCh38]
Chr7:143028372 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.1662_1663dup (p.His555fs) duplication Hypoplasia of the maxilla [RCV000626581] Chr7:143342006..143342007 [GRCh38]
Chr7:143039099..143039100 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.2339G>A (p.Arg780His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638236] Chr7:143346633 [GRCh38]
Chr7:143043726 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.750G>A (p.Met250Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000638238] Chr7:143323362 [GRCh38]
Chr7:143020455 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.2(CLCN1):c.698delG (p.Gly233Alafs) deletion Congenital myotonia, autosomal recessive form [RCV000793253]|not provided [RCV000517213] Chr7:143323308 [GRCh38]
Chr7:143020401 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.13C>T (p.Arg5Trp) single nucleotide variant not specified [RCV000605421] Chr7:143316225 [GRCh38]
Chr7:143013318 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn) single nucleotide variant not provided [RCV000513588] Chr7:143342142 [GRCh38]
Chr7:143039235 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000019088]|Congenital myotonia, autosomal recessive form [RCV000810078]|not provided [RCV000657922] Chr7:143339295 [GRCh38]
Chr7:143036388 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del) deletion not provided [RCV000659092] Chr7:143339293..143339298 [GRCh38]
Chr7:143036386..143036391 [GRCh37]
Chr7:7q34
likely pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_000083.3(CLCN1):c.1621T>G (p.Ser541Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000701109] Chr7:143341967 [GRCh38]
Chr7:143039060 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys) single nucleotide variant not provided [RCV000711221] Chr7:143339610 [GRCh38]
Chr7:143036703 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs) deletion Congenital myotonia, autosomal recessive form [RCV000688034] Chr7:143350577..143350578 [GRCh38]
Chr7:143047670..143047671 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000685629] Chr7:143339296 [GRCh38]
Chr7:143036389 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.302-1G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000700752] Chr7:143320663 [GRCh38]
Chr7:143017756 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000706801]|Myotonia congenita [RCV001161760] Chr7:143351813 [GRCh38]
Chr7:143048906 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2136_2141TGAGGA[3] (p.713_714ED[4]) microsatellite Congenital myotonia, autosomal recessive form [RCV000687126] Chr7:143345722..143345723 [GRCh38]
Chr7:143042815..143042816 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000692856]|not provided [RCV000991825] Chr7:143320771 [GRCh38]
Chr7:143017864 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu) single nucleotide variant not provided [RCV000711216] Chr7:143332734 [GRCh38]
Chr7:143029827 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg) single nucleotide variant not provided [RCV000711217] Chr7:143332767 [GRCh38]
Chr7:143029860 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2023C>T (p.Gln675Ter) single nucleotide variant not provided [RCV000711227] Chr7:143345613 [GRCh38]
Chr7:143042706 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del) deletion not provided [RCV000711229] Chr7:143350589..143350591 [GRCh38]
Chr7:143047682..143047684 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) single nucleotide variant Myotonia congenita [RCV001163064]|not provided [RCV000711232] Chr7:143320774 [GRCh38]
Chr7:143017867 [GRCh37]
Chr7:7q34
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.563G>C (p.Gly188Ala) single nucleotide variant not provided [RCV000711235] Chr7:143321715 [GRCh38]
Chr7:143018808 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.593T>C (p.Leu198Pro) single nucleotide variant not provided [RCV000711237] Chr7:143321745 [GRCh38]
Chr7:143018838 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.2285-1G>C single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000695019] Chr7:143346578 [GRCh38]
Chr7:143043671 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1168C>T (p.Arg390Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000687628] Chr7:143332420 [GRCh38]
Chr7:143029513 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000691234] Chr7:143332769 [GRCh38]
Chr7:143029862 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1060A>G (p.Ile354Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000688682] Chr7:143331312 [GRCh38]
Chr7:143028405 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1644_1645del (p.Glu548fs) deletion Congenital myotonia, autosomal recessive form [RCV000691419] Chr7:143341990..143341991 [GRCh38]
Chr7:143039083..143039084 [GRCh37]
Chr7:7q34
pathogenic
NC_000007.14:g.(?_143345501)_(143350674_?)del deletion Congenital myotonia, autosomal recessive form [RCV000708052] Chr7:143345501..143350674 [GRCh38]
Chr7:143042594..143047767 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2763_2764TG[1] (p.Val922fs) microsatellite Congenital myotonia, autosomal recessive form [RCV000700139] Chr7:143351761..143351762 [GRCh38]
Chr7:143048854..143048855 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.2(CLCN1):c.50_434-202del deletion Congenital myotonia, autosomal recessive form [RCV000703658] Chr7:143316262..143321163 [GRCh38]
Chr7:143013355..143018256 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000706396] Chr7:143350610 [GRCh38]
Chr7:143047703 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.32G>C (p.Gly11Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000706459] Chr7:143316244 [GRCh38]
Chr7:143013337 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2722A>G (p.Asn908Asp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000689675] Chr7:143351720 [GRCh38]
Chr7:143048813 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys) single nucleotide variant not provided [RCV000711242] Chr7:143330823 [GRCh38]
Chr7:143027916 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) single nucleotide variant not provided [RCV000711214] Chr7:143331316 [GRCh38]
Chr7:143028409 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001063068]|not provided [RCV000711218] Chr7:143332871 [GRCh38]
Chr7:143029964 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=) single nucleotide variant not provided [RCV000711219] Chr7:143339267 [GRCh38]
Chr7:143036360 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp) single nucleotide variant not provided [RCV000711223] Chr7:143341998 [GRCh38]
Chr7:143039091 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile) single nucleotide variant not provided [RCV000711224] Chr7:143316378 [GRCh38]
Chr7:143013471 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys) single nucleotide variant not provided [RCV000711225] Chr7:143342406 [GRCh38]
Chr7:143039499 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1930+1G>A single nucleotide variant not provided [RCV000711226] Chr7:143342506 [GRCh38]
Chr7:143039599 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) single nucleotide variant not provided [RCV000711238] Chr7:143324438 [GRCh38]
Chr7:143021531 [GRCh37]
Chr7:7q34
conflicting interpretations of pathogenicity|uncertain significance
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp) single nucleotide variant not provided [RCV000711239] Chr7:143324448 [GRCh38]
Chr7:143021541 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe) single nucleotide variant not provided [RCV000711234] Chr7:143321445 [GRCh38]
Chr7:143018538 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.815C>T (p.Ala272Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000693050] Chr7:143324454 [GRCh38]
Chr7:143021547 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2172+1G>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000693331]|not provided [RCV001091924] Chr7:143345763 [GRCh38]
Chr7:143042856 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.595C>T (p.Arg199Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000707456] Chr7:143321747 [GRCh38]
Chr7:143018840 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2219C>G (p.Ser740Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000691444] Chr7:143346186 [GRCh38]
Chr7:143043279 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2902G>C (p.Asp968His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000696470] Chr7:143351900 [GRCh38]
Chr7:143048993 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000691722] Chr7:143339295 [GRCh38]
Chr7:143036388 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000816466] Chr7:143350405 [GRCh38]
Chr7:143047498 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.838G>A (p.Gly280Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000817026] Chr7:143324477 [GRCh38]
Chr7:143021570 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_000083.3(CLCN1):c.1278_1281TTTG[1] (p.Phe428fs) microsatellite Congenital myotonia, autosomal recessive form [RCV000761495] Chr7:143332750..143332753 [GRCh38]
Chr7:143029843..143029846 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.742A>T (p.Lys248Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001223937]|not provided [RCV000760440] Chr7:143323354 [GRCh38]
Chr7:143020447 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.852A>G (p.Gly284=) single nucleotide variant not provided [RCV000762484] Chr7:143324491 [GRCh38]
Chr7:143021584 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro) single nucleotide variant not provided [RCV000762485] Chr7:143350587 [GRCh38]
Chr7:143047680 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.434-1_437del deletion not provided [RCV000762483] Chr7:143321363..143321367 [GRCh38]
Chr7:143018456..143018460 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.2833G>A (p.Gly945Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001066318] Chr7:143351831 [GRCh38]
Chr7:143048924 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001066353] Chr7:143345701 [GRCh38]
Chr7:143042794 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1166+5G>A single nucleotide variant not provided [RCV000991817] Chr7:143331657 [GRCh38]
Chr7:143028750 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg) single nucleotide variant not provided [RCV000991818] Chr7:143339305 [GRCh38]
Chr7:143036398 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV000991829] Chr7:143324462 [GRCh38]
Chr7:143021555 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2203A>G (p.Thr735Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001067178] Chr7:143346170 [GRCh38]
Chr7:143043263 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.165C>T (p.Asn55=) single nucleotide variant not provided [RCV000883216] Chr7:143316377 [GRCh38]
Chr7:143013470 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.505C>T (p.Leu169=) single nucleotide variant not provided [RCV000951388] Chr7:143321436 [GRCh38]
Chr7:143018529 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2577C>T (p.Gly859=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000878958] Chr7:143350636 [GRCh38]
Chr7:143047729 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.147T>C (p.Asp49=) single nucleotide variant not provided [RCV000922010] Chr7:143316359 [GRCh38]
Chr7:143013452 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1467G>A (p.Val489=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000877283] Chr7:143339318 [GRCh38]
Chr7:143036411 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.174C>G (p.Pro58=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000876290] Chr7:143316386 [GRCh38]
Chr7:143013479 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1371C>T (p.Val457=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000945933] Chr7:143332843 [GRCh38]
Chr7:143029936 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000876537] Chr7:143351832 [GRCh38]
Chr7:143048925 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2094C>T (p.Pro698=) single nucleotide variant not provided [RCV000864433] Chr7:143345684 [GRCh38]
Chr7:143042777 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.780A>G (p.Pro260=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000864739] Chr7:143324419 [GRCh38]
Chr7:143021512 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1701C>A (p.Asn567Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001037122] Chr7:143342047 [GRCh38]
Chr7:143039140 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1604C>T (p.Ala535Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001059033] Chr7:143341950 [GRCh38]
Chr7:143039043 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2653G>T (p.Ala885Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001071565] Chr7:143351651 [GRCh38]
Chr7:143048744 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2172+1G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001037981]|not provided [RCV001091923] Chr7:143345763 [GRCh38]
Chr7:143042856 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001042853] Chr7:143342500 [GRCh38]
Chr7:143039593 [GRCh37]
Chr7:7q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000083.3(CLCN1):c.2363A>C (p.Gln788Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001040281] Chr7:143346657 [GRCh38]
Chr7:143043750 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2204C>T (p.Thr735Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001040323] Chr7:143346171 [GRCh38]
Chr7:143043264 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_000083.3(CLCN1):c.751del (p.Ser251fs) deletion Congenital myotonia, autosomal recessive form [RCV000813660] Chr7:143323363 [GRCh38]
Chr7:143020456 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000816296] Chr7:143321843 [GRCh38]
Chr7:143018936 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.299A>G (p.Gln100Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000817027] Chr7:143319873 [GRCh38]
Chr7:143016966 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.601G>A (p.Val201Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000819331] Chr7:143321753 [GRCh38]
Chr7:143018846 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.762C>G (p.Cys254Trp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000822037] Chr7:143323374 [GRCh38]
Chr7:143020467 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1796+2_1796+6del microsatellite Myotonia congenita [RCV000778824] Chr7:143342139..143342143 [GRCh38]
Chr7:143039232..143039236 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2192dup (p.His732fs) duplication Myotonia congenita [RCV000778825] Chr7:143346158..143346159 [GRCh38]
Chr7:143043251..143043252 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.705C>T (p.Phe235=) single nucleotide variant Myotonia congenita [RCV001165162]|not provided [RCV000939829] Chr7:143323317 [GRCh38]
Chr7:143020410 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2247T>G (p.Pro749=) single nucleotide variant not provided [RCV000918080] Chr7:143346214 [GRCh38]
Chr7:143043307 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2388C>T (p.Asn796=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000983771] Chr7:143346934 [GRCh38]
Chr7:143044027 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1263C>T (p.Arg421=) single nucleotide variant not provided [RCV000941929] Chr7:143332735 [GRCh38]
Chr7:143029828 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1931-200T>C single nucleotide variant not provided [RCV000839279] Chr7:143345321 [GRCh38]
Chr7:143042414 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2595+58G>C single nucleotide variant not provided [RCV000839280] Chr7:143350712 [GRCh38]
Chr7:143047805 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2284+42G>A single nucleotide variant not provided [RCV000832189] Chr7:143346293 [GRCh38]
Chr7:143043386 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1065-108G>A single nucleotide variant not provided [RCV000839624] Chr7:143331443 [GRCh38]
Chr7:143028536 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1167-141G>T single nucleotide variant not provided [RCV000839625] Chr7:143332278 [GRCh38]
Chr7:143029371 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1583-62A>C single nucleotide variant not provided [RCV000839626] Chr7:143341867 [GRCh38]
Chr7:143038960 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1401+180C>A single nucleotide variant not provided [RCV000839627] Chr7:143333053 [GRCh38]
Chr7:143030146 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.815C>G (p.Ala272Gly) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000819609] Chr7:143324454 [GRCh38]
Chr7:143021547 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1357dup (p.Arg453fs) duplication Congenital myotonia, autosomal recessive form [RCV000822873] Chr7:143332824..143332825 [GRCh38]
Chr7:143029917..143029918 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1784G>A (p.Trp595Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000791909] Chr7:143342130 [GRCh38]
Chr7:143039223 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.433G>T (p.Ala145Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000821658] Chr7:143320795 [GRCh38]
Chr7:143017888 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1672C>T (p.Pro558Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000823200] Chr7:143342018 [GRCh38]
Chr7:143039111 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.563-23A>T single nucleotide variant not provided [RCV000839876] Chr7:143321692 [GRCh38]
Chr7:143018785 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1930+182G>A single nucleotide variant not provided [RCV000839878] Chr7:143342687 [GRCh38]
Chr7:143039780 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1931-62G>A single nucleotide variant not provided [RCV000839879] Chr7:143345459 [GRCh38]
Chr7:143042552 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.812G>A (p.Cys271Tyr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000814953] Chr7:143324451 [GRCh38]
Chr7:143021544 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2365-102C>T single nucleotide variant not provided [RCV000840013] Chr7:143346809 [GRCh38]
Chr7:143043902 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2404-90C>T single nucleotide variant not provided [RCV000840020] Chr7:143350282 [GRCh38]
Chr7:143047375 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.789del (p.Ser264fs) deletion Congenital myotonia, autosomal recessive form [RCV000819385] Chr7:143324428 [GRCh38]
Chr7:143021521 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.817G>A (p.Val273Met) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000821657]|not provided [RCV001091921] Chr7:143324456 [GRCh38]
Chr7:143021549 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.434-4G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000871425] Chr7:143321361 [GRCh38]
Chr7:143018454 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1357del (p.Arg453fs) deletion Congenital myotonia, autosomal recessive form [RCV000803504] Chr7:143332825 [GRCh38]
Chr7:143029918 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1517T>G (p.Phe506Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000823499] Chr7:143339556 [GRCh38]
Chr7:143036649 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000995507]|not provided [RCV000991827] Chr7:143323309 [GRCh38]
Chr7:143020402 [GRCh37]
Chr7:7q34
pathogenic|uncertain significance
NM_000083.3(CLCN1):c.1490T>G (p.Leu497Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000812979] Chr7:143339529 [GRCh38]
Chr7:143036622 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2365-126G>A single nucleotide variant not provided [RCV000836914] Chr7:143346785 [GRCh38]
Chr7:143043878 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.433+72C>G single nucleotide variant not provided [RCV000838793] Chr7:143320867 [GRCh38]
Chr7:143017960 [GRCh37]
Chr7:7q34
benign
NC_000007.13:g.(?_143047445)_(143049078_?)dup duplication Congenital myotonia, autosomal recessive form [RCV000807247] Chr7:143350352..143351985 [GRCh38]
Chr7:143047445..143049078 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2172+3G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000810853] Chr7:143345765 [GRCh38]
Chr7:143042858 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.478C>T (p.Gln160Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000819257] Chr7:143321409 [GRCh38]
Chr7:143018502 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1472-66T>C single nucleotide variant not provided [RCV000839042] Chr7:143339445 [GRCh38]
Chr7:143036538 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1583-169T>G single nucleotide variant not provided [RCV000839043] Chr7:143341760 [GRCh38]
Chr7:143038853 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.774G>A (p.Glu258=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001063540]|Myotonia [RCV000788076] Chr7:143323386 [GRCh38]
Chr7:143020479 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.962T>A (p.Val321Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000800361] Chr7:143330880 [GRCh38]
Chr7:143027973 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.224A>T (p.Asp75Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000803654] Chr7:143319798 [GRCh38]
Chr7:143016891 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001067172] Chr7:143341988 [GRCh38]
Chr7:143039081 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.844C>G (p.Pro282Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000807524] Chr7:143324483 [GRCh38]
Chr7:143021576 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1807A>T (p.Ile603Phe) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000809015] Chr7:143342382 [GRCh38]
Chr7:143039475 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.563-13T>G single nucleotide variant Myotonia congenita [RCV001165160] Chr7:143321702 [GRCh38]
Chr7:143018795 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000793259] Chr7:143345541 [GRCh38]
Chr7:143042634 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2798C>A (p.Ser933Tyr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000812692] Chr7:143351796 [GRCh38]
Chr7:143048889 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000987990]|Congenital myotonia, autosomal recessive form [RCV001212828] Chr7:143339517 [GRCh38]
Chr7:143036610 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1892C>T (p.Thr631Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000794383]|Myotonia congenita [RCV001163173] Chr7:143342467 [GRCh38]
Chr7:143039560 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.697-9C>A single nucleotide variant Myotonia congenita [RCV001165161] Chr7:143323300 [GRCh38]
Chr7:143020393 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2028G>A (p.Glu676=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000875544] Chr7:143345618 [GRCh38]
Chr7:143042711 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2641C>T (p.Arg881Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000811644] Chr7:143351639 [GRCh38]
Chr7:143048732 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1582+66T>C single nucleotide variant not provided [RCV000840006] Chr7:143339687 [GRCh38]
Chr7:143036780 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2172+128A>G single nucleotide variant not provided [RCV000840009] Chr7:143345890 [GRCh38]
Chr7:143042983 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2365-114A>G single nucleotide variant not provided [RCV000840010] Chr7:143346797 [GRCh38]
Chr7:143043890 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.932T>G (p.Phe311Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000791647] Chr7:143330850 [GRCh38]
Chr7:143027943 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.177A>G (p.Thr59=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000941923] Chr7:143316389 [GRCh38]
Chr7:143013482 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.706G>C (p.Val236Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000794264] Chr7:143323318 [GRCh38]
Chr7:143020411 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000792000]|Myotonia congenita [RCV001161535]|not provided [RCV000998933] Chr7:143320675 [GRCh38]
Chr7:143017768 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
NM_000083.3(CLCN1):c.433+185G>A single nucleotide variant not provided [RCV000837982] Chr7:143320980 [GRCh38]
Chr7:143018073 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000800510] Chr7:143321411 [GRCh38]
Chr7:143018504 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV000784894]|Congenital myotonia, autosomal recessive form [RCV000784895] Chr7:143323375 [GRCh38]
Chr7:143020468 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2364+67G>A single nucleotide variant not provided [RCV000838591] Chr7:143346725 [GRCh38]
Chr7:143043818 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2596-9G>T single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000875243] Chr7:143351585 [GRCh38]
Chr7:143048678 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1931-293C>A single nucleotide variant not provided [RCV000826870] Chr7:143345228 [GRCh38]
Chr7:143042321 [GRCh37]
Chr7:7q34
benign
NC_000007.14:g.143316078T>G single nucleotide variant not provided [RCV000838792] Chr7:143316078 [GRCh38]
Chr7:143013171 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.774+146T>C single nucleotide variant not provided [RCV000838794] Chr7:143323532 [GRCh38]
Chr7:143020625 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1930+108T>C single nucleotide variant not provided [RCV000841565] Chr7:143342613 [GRCh38]
Chr7:143039706 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.949C>A (p.Arg317=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000806233] Chr7:143330867 [GRCh38]
Chr7:143027960 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1167-196C>G single nucleotide variant not provided [RCV000839058] Chr7:143332223 [GRCh38]
Chr7:143029316 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000809623]|not provided [RCV000991831] Chr7:143330877 [GRCh38]
Chr7:143027970 [GRCh37]
Chr7:7q34
likely pathogenic|uncertain significance
NM_000083.3(CLCN1):c.774+170G>A single nucleotide variant not provided [RCV000839623] Chr7:143323556 [GRCh38]
Chr7:143020649 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2171A>C (p.Glu724Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001045841] Chr7:143345761 [GRCh38]
Chr7:143042854 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly) single nucleotide variant not provided [RCV000991819] Chr7:143339580 [GRCh38]
Chr7:143036673 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val) single nucleotide variant not provided [RCV000991823] Chr7:143319855 [GRCh38]
Chr7:143016948 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile) single nucleotide variant not provided [RCV000998934] Chr7:143331235 [GRCh38]
Chr7:143028328 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001210736] Chr7:143345677 [GRCh38]
Chr7:143042770 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1580T>G (p.Ile527Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001067338] Chr7:143339619 [GRCh38]
Chr7:143036712 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) single nucleotide variant Myotonia congenita [RCV001163174] Chr7:143345607 [GRCh38]
Chr7:143042700 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp) single nucleotide variant not provided [RCV000991824] Chr7:143320754 [GRCh38]
Chr7:143017847 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.411delinsGGA (p.Tyr137Ter) indel Congenital myotonia, autosomal recessive form [RCV001247973]|not provided [RCV000991826] Chr7:143320773 [GRCh38]
Chr7:143017866 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1814T>C (p.Val605Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001219921] Chr7:143342389 [GRCh38]
Chr7:143039482 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2848G>A (p.Glu950Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001221920] Chr7:143351846 [GRCh38]
Chr7:143048939 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.262G>A (p.Val88Met) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001240665] Chr7:143319836 [GRCh38]
Chr7:143016929 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1167-9C>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001205341] Chr7:143332410 [GRCh38]
Chr7:143029503 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.696+5G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001223585] Chr7:143321853 [GRCh38]
Chr7:143018946 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1575A>G (p.Ala525=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001209624] Chr7:143339614 [GRCh38]
Chr7:143036707 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2831C>T (p.Pro944Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001209625] Chr7:143351829 [GRCh38]
Chr7:143048922 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2803T>C (p.Ser935Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001207011] Chr7:143351801 [GRCh38]
Chr7:143048894 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1099T>A (p.Tyr367Asn) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001209829] Chr7:143331585 [GRCh38]
Chr7:143028678 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.475del (p.Leu159fs) deletion Congenital myotonia, autosomal recessive form [RCV001221403] Chr7:143321406 [GRCh38]
Chr7:143018499 [GRCh37]
Chr7:7q34
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000987988] Chr7:143320714 [GRCh38]
Chr7:143017807 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) single nucleotide variant not provided [RCV000991820] Chr7:143345698 [GRCh38]
Chr7:143042791 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001071809]|not provided [RCV000991822] Chr7:143351643 [GRCh38]
Chr7:143048736 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala) single nucleotide variant not provided [RCV000991828] Chr7:143324457 [GRCh38]
Chr7:143021550 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met) single nucleotide variant not provided [RCV000991832] Chr7:143331239 [GRCh38]
Chr7:143028332 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1439C>A (p.Pro480His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001212337] Chr7:143339290 [GRCh38]
Chr7:143036383 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.181-2A>G single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001212715] Chr7:143319753 [GRCh38]
Chr7:143016846 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.2962del (p.Leu988fs) deletion Congenital myotonia, autosomal recessive form [RCV001043278] Chr7:143351959 [GRCh38]
Chr7:143049052 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1568G>A (p.Gly523Asp) single nucleotide variant not provided [RCV001091922] Chr7:143339607 [GRCh38]
Chr7:143036700 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=) single nucleotide variant Myotonia congenita [RCV001161644] Chr7:143339294 [GRCh38]
Chr7:143036387 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1767C>T (p.Tyr589=) single nucleotide variant Myotonia congenita [RCV001161647] Chr7:143342113 [GRCh38]
Chr7:143039206 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1650G>A (p.Thr550=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001047235] Chr7:143341996 [GRCh38]
Chr7:143039089 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.916T>C (p.Phe306Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001230055] Chr7:143330834 [GRCh38]
Chr7:143027927 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1776C>T (p.Asp592=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000875186] Chr7:143342122 [GRCh38]
Chr7:143039215 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.861A>G (p.Leu287=) single nucleotide variant not provided [RCV000884091] Chr7:143330779 [GRCh38]
Chr7:143027872 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2274A>G (p.Pro758=) single nucleotide variant not provided [RCV000910235] Chr7:143346241 [GRCh38]
Chr7:143043334 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.987C>T (p.Ile329=) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000870617] Chr7:143331239 [GRCh38]
Chr7:143028332 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2022C>G (p.Ala674=) single nucleotide variant not provided [RCV000951880] Chr7:143345612 [GRCh38]
Chr7:143042705 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1990C>T (p.His664Tyr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV000876323] Chr7:143345580 [GRCh38]
Chr7:143042673 [GRCh37]
Chr7:7q34
benign
NM_000083.3(CLCN1):c.1557C>A (p.Ile519=) single nucleotide variant not provided [RCV000898941] Chr7:143339596 [GRCh38]
Chr7:143036689 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1935A>G (p.Ser645=) single nucleotide variant not provided [RCV000983265] Chr7:143345525 [GRCh38]
Chr7:143042618 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1254G>C (p.Leu418Phe) single nucleotide variant Myotonia congenita [RCV001158443] Chr7:143332726 [GRCh38]
Chr7:143029819 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001244354] Chr7:143351679 [GRCh38]
Chr7:143048772 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2365-3T>C single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001207608] Chr7:143346908 [GRCh38]
Chr7:143044001 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2944G>A (p.Asp982Asn) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001244772] Chr7:143351942 [GRCh38]
Chr7:143049035 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001236573] Chr7:143345652 [GRCh38]
Chr7:143042745 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1496G>A (p.Gly499Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001203791] Chr7:143339535 [GRCh38]
Chr7:143036628 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.154C>G (p.Pro52Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001050855] Chr7:143316366 [GRCh38]
Chr7:143013459 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2114C>G (p.Pro705Arg) single nucleotide variant Myotonia congenita [RCV001165265] Chr7:143345704 [GRCh38]
Chr7:143042797 [GRCh37]
Chr7:7q34
uncertain significance
NC_000007.14:g.(?_143324401)_(143331662_?)del deletion Congenital myotonia, autosomal recessive form [RCV001032941] Chr7:143021494..143028755 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1540G>A (p.Asp514Asn) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001067005] Chr7:143339579 [GRCh38]
Chr7:143036672 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1190T>A (p.Val397Asp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001209375] Chr7:143332442 [GRCh38]
Chr7:143029535 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2215_2216del (p.Leu739fs) microsatellite Congenital myotonia, autosomal recessive form [RCV001237765] Chr7:143346180..143346181 [GRCh38]
Chr7:143043273..143043274 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2724C>G (p.Asn908Lys) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001206446] Chr7:143351722 [GRCh38]
Chr7:143048815 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2704T>C (p.Ser902Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001217604] Chr7:143351702 [GRCh38]
Chr7:143048795 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1922A>G (p.Asp641Gly) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001225139] Chr7:143342497 [GRCh38]
Chr7:143039590 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1741A>C (p.Ile581Leu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001243765] Chr7:143342087 [GRCh38]
Chr7:143039180 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.374G>A (p.Gly125Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001238197] Chr7:143320736 [GRCh38]
Chr7:143017829 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1726T>G (p.Ser576Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001225606] Chr7:143342072 [GRCh38]
Chr7:143039165 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1582+7A>T single nucleotide variant not provided [RCV000913525] Chr7:143339628 [GRCh38]
Chr7:143036721 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.69G>A (p.Gln23=) single nucleotide variant not provided [RCV000934062] Chr7:143316281 [GRCh38]
Chr7:143013374 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) single nucleotide variant not provided [RCV001008657] Chr7:143345648 [GRCh38]
Chr7:143042741 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.2013_2014GC[2] (p.Ala673fs) microsatellite Congenital myotonia, autosomal recessive form [RCV001035266]|not provided [RCV001008934] Chr7:143345603..143345604 [GRCh38]
Chr7:143042696..143042697 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_000083.3(CLCN1):c.562+6A>C single nucleotide variant Myotonia congenita [RCV001163066] Chr7:143321499 [GRCh38]
Chr7:143018592 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) single nucleotide variant Myalgia [RCV001195830]|Myotonia congenita [RCV001158331] Chr7:143316369 [GRCh38]
Chr7:143013462 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.563G>A (p.Gly188Asp) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV001002775] Chr7:143321715 [GRCh38]
Chr7:143018808 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1251+14G>A single nucleotide variant Myotonia congenita [RCV001158442] Chr7:143332517 [GRCh38]
Chr7:143029610 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) single nucleotide variant Myotonia congenita [RCV001158553] Chr7:143346231 [GRCh38]
Chr7:143043324 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2285-15C>A single nucleotide variant Myotonia congenita [RCV001158554] Chr7:143346564 [GRCh38]
Chr7:143043657 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) deletion not provided [RCV001091925] Chr7:143351784 [GRCh38]
Chr7:143048877 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1247G>A (p.Gly416Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001069020] Chr7:143332499 [GRCh38]
Chr7:143029592 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1872del (p.Glu624fs) deletion Congenital myotonia, autosomal recessive form [RCV001067924] Chr7:143342447 [GRCh38]
Chr7:143039540 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.2443T>C (p.Cys815Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001050234] Chr7:143350411 [GRCh38]
Chr7:143047504 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.529C>G (p.Leu177Val) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001208244] Chr7:143321460 [GRCh38]
Chr7:143018553 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2284+12C>G single nucleotide variant Obesity [RCV001196294] Chr7:143346263 [GRCh38]
Chr7:143043356 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2005C>A (p.Arg669Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001231598] Chr7:143345595 [GRCh38]
Chr7:143042688 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001203792] Chr7:143342025 [GRCh38]
Chr7:143039118 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.253A>G (p.Ser85Gly) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001056436] Chr7:143319827 [GRCh38]
Chr7:143016920 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1149C>A (p.Ser383Arg) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001218935] Chr7:143331635 [GRCh38]
Chr7:143028728 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1818G>A (p.Glu606=) single nucleotide variant not provided [RCV001200299] Chr7:143342393 [GRCh38]
Chr7:143039486 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.2341C>T (p.Pro781Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001057097] Chr7:143346635 [GRCh38]
Chr7:143043728 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.128A>C (p.Gln43Pro) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001039045] Chr7:143316340 [GRCh38]
Chr7:143013433 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) single nucleotide variant Myotonia congenita [RCV001163065] Chr7:143321477 [GRCh38]
Chr7:143018570 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) single nucleotide variant Myotonia congenita [RCV001163171] Chr7:143342407 [GRCh38]
Chr7:143039500 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.*30G>A single nucleotide variant Myotonia congenita [RCV001163284] Chr7:143351995 [GRCh38]
Chr7:143049088 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.860T>A (p.Leu287Gln) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001036751] Chr7:143330778 [GRCh38]
Chr7:143027871 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.878C>T (p.Thr293Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001216910] Chr7:143330796 [GRCh38]
Chr7:143027889 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.527C>A (p.Ala176Asp) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001217264] Chr7:143321458 [GRCh38]
Chr7:143018551 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1251+5G>A single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001219312] Chr7:143332508 [GRCh38]
Chr7:143029601 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2749A>G (p.Thr917Ala) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001245697] Chr7:143351747 [GRCh38]
Chr7:143048840 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.409T>C (p.Tyr137His) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001039575] Chr7:143320771 [GRCh38]
Chr7:143017864 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2615G>A (p.Gly872Glu) single nucleotide variant Myotonia congenita [RCV001158555] Chr7:143351613 [GRCh38]
Chr7:143048706 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.979+1G>T single nucleotide variant Myotonia [RCV001199135] Chr7:143330898 [GRCh38]
Chr7:143027991 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1723C>T (p.Pro575Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001064590] Chr7:143342069 [GRCh38]
Chr7:143039162 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.523A>G (p.Ser175Gly) single nucleotide variant Migraine [RCV001195835] Chr7:143321454 [GRCh38]
Chr7:143018547 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001040990] Chr7:143351783 [GRCh38]
Chr7:143048876 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2647C>A (p.Pro883Thr) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001213417] Chr7:143351645 [GRCh38]
Chr7:143048738 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) deletion Congenital myotonia, autosomal recessive form [RCV001037787]|not provided [RCV001009209] Chr7:143345555 [GRCh38]
Chr7:143042648 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_000083.3(CLCN1):c.1785G>A (p.Trp595Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001069532] Chr7:143342131 [GRCh38]
Chr7:143039224 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1598C>G (p.Thr533Ser) single nucleotide variant Myotonia congenita [RCV001161646] Chr7:143341944 [GRCh38]
Chr7:143039037 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.2822C>T (p.Ser941Phe) single nucleotide variant Myotonia congenita [RCV001161761] Chr7:143351820 [GRCh38]
Chr7:143048913 [GRCh37]
Chr7:7q34
likely benign
NM_000083.3(CLCN1):c.1299G>A (p.Trp433Ter) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001062860] Chr7:143332771 [GRCh38]
Chr7:143029864 [GRCh37]
Chr7:7q34
pathogenic
NM_000083.3(CLCN1):c.1226G>A (p.Gly409Glu) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001202683] Chr7:143332478 [GRCh38]
Chr7:143029571 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1438C>T (p.Pro480Ser) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV001253400] Chr7:143339289 [GRCh38]
Chr7:143036382 [GRCh37]
Chr7:7q34
likely pathogenic
NM_000083.3(CLCN1):c.1010T>G (p.Phe337Cys) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV001257324]   pathogenic
NM_000083.3(CLCN1):c.2495C>T (p.Thr832Ile) single nucleotide variant Congenital myotonia, autosomal recessive form [RCV001257255] Chr7:143350463 [GRCh38]
Chr7:143047556 [GRCh37]
Chr7:7q34
uncertain significance
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) single nucleotide variant Congenital myotonia, autosomal dominant form [RCV001262904] Chr7:143339607 [GRCh38]
Chr7:143036700 [GRCh37]
Chr7:7q34
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2019 AgrOrtholog
COSMIC CLCN1 COSMIC
Ensembl Genes ENSG00000188037 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000339867 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395949 UniProtKB/TrEMBL
  ENSP00000400027 UniProtKB/TrEMBL
  ENSP00000498052 UniProtKB/TrEMBL
Ensembl Transcript ENST00000343257 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432192 UniProtKB/TrEMBL
  ENST00000455478 UniProtKB/TrEMBL
  ENST00000650516 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188037 GTEx
HGNC ID HGNC:2019 ENTREZGENE
Human Proteome Map CLCN1 Human Proteome Map
InterPro CBS_dom UniProtKB/Swiss-Prot
  Cl-channel_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_volt-gated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl_channel-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1180 UniProtKB/Swiss-Prot
NCBI Gene 1180 ENTREZGENE
OMIM 118425 OMIM
  160800 OMIM
  255700 OMIM
Pfam Voltage_CLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26546 PharmGKB
PRINTS CLCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLCHANNEL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CBS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF81340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.121483 ENTREZGENE
UniProt A0A3B3IU72_HUMAN UniProtKB/TrEMBL
  CLCN1_HUMAN UniProtKB/Swiss-Prot
  H7C0N6_HUMAN UniProtKB/TrEMBL
  H7C1F4_HUMAN UniProtKB/TrEMBL
  P35523 ENTREZGENE
  Q75L28_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D2H5 UniProtKB/Swiss-Prot
  Q2M202 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CLCN1  chloride voltage-gated channel 1    chloride channel, voltage-sensitive 1  Symbol and/or name change 5135510 APPROVED
2012-03-20 CLCN1  chloride channel, voltage-sensitive 1  CLCN1  chloride channel, voltage-sensitive 1  Symbol and/or name change 5135510 APPROVED
2012-03-01 CLCN1  chloride channel, voltage-sensitive 1  CLCN1  chloride channel 1, skeletal muscle  Symbol and/or name change 5135510 APPROVED
2011-08-16 CLCN1  chloride channel 1, skeletal muscle  CLCN1  chloride channel 1, skeletal muscle  Symbol and/or name change 5135510 APPROVED