CLCN5 (chloride voltage-gated channel 5) - Rat Genome Database

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Gene: CLCN5 (chloride voltage-gated channel 5) Homo sapiens
Analyze
Symbol: CLCN5
Name: chloride voltage-gated channel 5
RGD ID: 733029
HGNC Page HGNC
Description: Enables identical protein binding activity. Predicted to be involved in excretion and ion transmembrane transport. Predicted to act upstream of or within endocytosis. Located in several cellular components, including Golgi apparatus; apical part of cell; and cytosol. Implicated in Dent disease; X-linked nephrolithiasis type I; X-linked recessive hypophosphatemic rickets; and low molecular weight proteinuria with hypercalciuric nephrocalcinosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: chloride channel 5; chloride channel protein 5; chloride channel, voltage-sensitive 5; chloride transporter ClC-5; clC-5; CLC5; CLCK2; DENT1; DENTS; H(+)/Cl(-) exchange transporter 5; hCIC-K2; hClC-K2; nephrolithiasis 1 (X-linked); NPHL1; NPHL2; voltage-gated chloride ion channel CLCN5; XLRH; XRN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,922,596 - 50,099,235 (+)EnsemblGRCh38hg38GRCh38
GRCh38X49,922,596 - 50,099,231 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,687,206 - 49,863,887 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X49,718,955 - 49,750,632 (+)NCBINCBI36hg18NCBI36
Build 34X49,537,191 - 49,560,557NCBI
CeleraX53,756,528 - 53,932,992 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX47,156,646 - 47,337,277 (+)NCBIHuRef
CHM1_1X49,766,989 - 49,943,526 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7753256   PMID:8099916   PMID:8111383   PMID:8530041   PMID:8559248   PMID:8575751   PMID:9062355   PMID:9169421   PMID:9187673   PMID:9259268   PMID:9602200   PMID:9653142  
PMID:9931332   PMID:10198195   PMID:12477932   PMID:12631345   PMID:12631358   PMID:12637640   PMID:12886045   PMID:12904289   PMID:13679301   PMID:14569459   PMID:14675051   PMID:14702039  
PMID:15086899   PMID:15489223   PMID:15571186   PMID:15692680   PMID:15702377   PMID:15719255   PMID:15772651   PMID:16034421   PMID:16344560   PMID:16686597   PMID:16807762   PMID:16822791  
PMID:17195847   PMID:17262170   PMID:17897319   PMID:18019214   PMID:18025833   PMID:18029348   PMID:18184518   PMID:18322545   PMID:18540256   PMID:19019917   PMID:19131966   PMID:19546586  
PMID:19546591   PMID:19657328   PMID:19673950   PMID:19713962   PMID:19806368   PMID:19940036   PMID:19946888   PMID:20049483   PMID:20421284   PMID:20501796   PMID:20513761   PMID:20680351  
PMID:21173145   PMID:21305656   PMID:21873635   PMID:22083641   PMID:22267722   PMID:22695891   PMID:22735364   PMID:22824269   PMID:22876375   PMID:23029130   PMID:23047739   PMID:23211344  
PMID:23226131   PMID:23566014   PMID:23572577   PMID:23824909   PMID:24081861   PMID:24099800   PMID:24428215   PMID:24780295   PMID:25001568   PMID:25124980   PMID:25907713   PMID:25921289  
PMID:26186194   PMID:27117801   PMID:27174143   PMID:28348980   PMID:28383812   PMID:28514442   PMID:28815356   PMID:28899456   PMID:29058463   PMID:29507755   PMID:30044661   PMID:30852663  
PMID:31054069   PMID:31674016   PMID:31852738   PMID:32019767   PMID:32201916   PMID:32495484  


Genomics

Comparative Map Data
CLCN5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX49,922,596 - 50,099,235 (+)EnsemblGRCh38hg38GRCh38
GRCh38X49,922,596 - 50,099,231 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X49,687,206 - 49,863,887 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X49,718,955 - 49,750,632 (+)NCBINCBI36hg18NCBI36
Build 34X49,537,191 - 49,560,557NCBI
CeleraX53,756,528 - 53,932,992 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX47,156,646 - 47,337,277 (+)NCBIHuRef
CHM1_1X49,766,989 - 49,943,526 (+)NCBICHM1_1
Clcn5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,020,049 - 7,185,597 (-)NCBIGRCm39mm39
GRCm39 EnsemblX7,020,049 - 7,185,597 (-)Ensembl
GRCm38X7,153,810 - 7,319,358 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,153,810 - 7,319,358 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X6,735,945 - 6,765,840 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X6,316,432 - 6,345,645 (-)NCBImm8
CeleraX4,285,826 - 4,305,500 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.21NCBI
Clcn5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X15,185,353 - 15,339,977 (+)NCBImRatBN7.2
mRatBN7.2 EnsemblX15,185,451 - 15,334,264 (+)Ensembl
Rnor_6.0X16,170,585 - 16,196,691 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX16,050,780 - 16,196,789 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X16,955,709 - 16,981,815 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X27,383,769 - 27,409,877 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X27,437,237 - 27,463,346 (+)NCBI
CeleraX15,387,005 - 15,413,019 (+)NCBICelera
RH 3.4 MapX169.21RGD
Cytogenetic MapXq12NCBI
Clcn5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555431,077,007 - 1,250,352 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555431,076,988 - 1,256,352 (+)NCBIChiLan1.0ChiLan1.0
CLCN5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X49,851,472 - 50,013,375 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,854,165 - 50,006,363 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X42,137,523 - 42,299,716 (+)NCBIMhudiblu_PPA_v0panPan3
CLCN5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,705,789 - 42,860,701 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,704,627 - 42,853,812 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX17,082,898 - 17,238,055 (+)NCBI
ROS_Cfam_1.0X42,846,347 - 42,999,814 (+)NCBI
UMICH_Zoey_3.1X42,830,221 - 42,985,707 (+)NCBI
UNSW_CanFamBas_1.0X42,817,844 - 42,972,995 (+)NCBI
UU_Cfam_GSD_1.0X42,912,678 - 43,067,849 (+)NCBI
Clcn5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X35,203,152 - 35,361,974 (+)NCBI
SpeTri2.0NW_0049367211,552,312 - 1,602,360 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLCN5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,613,756 - 43,813,140 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,779,016 - 43,809,472 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X48,706,075 - 48,736,547 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLCN5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,772,176 - 46,934,886 (+)NCBI
ChlSab1.1X46,772,176 - 46,934,886 (+)NCBI
ChlSab1.1 EnsemblX46,772,305 - 46,927,861 (+)Ensembl
Vero_WHO_p1.0NW_023666086358,698 - 521,112 (+)NCBI
Clcn5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248931,390,417 - 1,581,457 (+)NCBI

Position Markers
DXS7647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,688,126 - 49,688,185UniSTSGRCh37
Build 36X49,574,866 - 49,574,925RGDNCBI36
CeleraX53,757,430 - 53,757,489RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX47,157,548 - 47,157,607UniSTS
A007D27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,862,002 - 49,862,101UniSTSGRCh37
Build 36X49,748,742 - 49,748,841RGDNCBI36
CeleraX53,931,102 - 53,931,201RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX47,335,387 - 47,335,486UniSTS
GeneMap99-GB4 RH MapX147.38UniSTS
NCBI RH MapX201.2UniSTS
stdJ519N18SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,823,782 - 49,824,089UniSTSGRCh37
Build 36X49,710,522 - 49,710,829RGDNCBI36
CeleraX53,892,881 - 53,893,188RGD
Cytogenetic MapXp11.23-p11.22UniSTS
WI-21198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,701,520 - 49,701,768UniSTSGRCh37
Build 36X49,588,260 - 49,588,508RGDNCBI36
CeleraX53,770,823 - 53,771,071RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX47,170,943 - 47,171,191UniSTS
GeneMap99-GB4 RH MapX148.73UniSTS
Whitehead-RH MapX83.3UniSTS
DXS9838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,697,889 - 49,697,994UniSTSGRCh37
Build 36X49,584,629 - 49,584,734RGDNCBI36
CeleraX53,767,192 - 53,767,297RGD
HuRefX47,167,312 - 47,167,417UniSTS
DXS9840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,857,955 - 49,858,092UniSTSGRCh37
Build 36X49,744,695 - 49,744,832RGDNCBI36
CeleraX53,927,055 - 53,927,192RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX47,331,339 - 47,331,476UniSTS
DXS9882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,821,777 - 49,821,967UniSTSGRCh37
Build 36X49,708,517 - 49,708,707RGDNCBI36
CeleraX53,891,006 - 53,891,196RGD
HuRefX47,291,661 - 47,291,851UniSTS
DXS8222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,690,561 - 49,690,718UniSTSGRCh37
Build 36X49,577,301 - 49,577,458RGDNCBI36
CeleraX53,759,864 - 53,760,021RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX47,159,984 - 47,160,141UniSTS
A007H45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,863,661 - 49,863,846UniSTSGRCh37
Build 36X49,750,401 - 49,750,586RGDNCBI36
CeleraX53,932,761 - 53,932,946RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX47,337,046 - 47,337,231UniSTS
GeneMap99-GB4 RH MapX141.08UniSTS
STS-X81836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X49,857,236 - 49,857,500UniSTSGRCh37
Build 36X49,743,976 - 49,744,240RGDNCBI36
CeleraX53,926,336 - 53,926,600RGD
Cytogenetic MapXp11.23-p11.22UniSTS
HuRefX47,330,620 - 47,330,884UniSTS
GeneMap99-GB4 RH MapX147.17UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6252
Count of miRNA genes:1494
Interacting mature miRNAs:2020
Transcripts:ENST00000307367, ENST00000376088, ENST00000376091, ENST00000376108, ENST00000482218
Prediction methods:Miranda, Pita, Pita,Targetscan, 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 81 3 131 127 44 129 266 37 114 240 267 83 86 3
Low 2355 2540 1595 496 1571 336 4085 2053 3339 179 1189 1527 173 1 1204 2697 2 1
Below cutoff 1 446 330 5 107 281 2 3 1 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001272102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA743724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC231645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC236430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF222686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF513571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX950885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA652242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA737534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ767011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000307367   ⟹   ENSP00000304257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,069,501 - 50,092,864 (+)Ensembl
RefSeq Acc Id: ENST00000376088   ⟹   ENSP00000365256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,922,615 - 50,099,235 (+)Ensembl
RefSeq Acc Id: ENST00000376091   ⟹   ENSP00000365259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,922,596 - 50,099,230 (+)Ensembl
RefSeq Acc Id: ENST00000376108   ⟹   ENSP00000365276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,067,576 - 50,092,406 (+)Ensembl
RefSeq Acc Id: ENST00000482218   ⟹   ENSP00000476732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX49,923,404 - 50,042,541 (+)Ensembl
RefSeq Acc Id: ENST00000642383   ⟹   ENSP00000496353
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,081,665 - 50,092,660 (+)Ensembl
RefSeq Acc Id: ENST00000642885   ⟹   ENSP00000496632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,067,964 - 50,092,660 (+)Ensembl
RefSeq Acc Id: ENST00000643129   ⟹   ENSP00000496056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,042,338 - 50,092,660 (+)Ensembl
RefSeq Acc Id: ENST00000646398   ⟹   ENSP00000495122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX50,069,555 - 50,092,894 (+)Ensembl
RefSeq Acc Id: NM_000084   ⟹   NP_000075
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,067,588 - 50,099,230 (+)NCBI
GRCh37X49,687,225 - 49,863,892 (+)ENTREZGENE
Build 36X49,718,955 - 49,750,632 (+)NCBI Archive
HuRefX47,156,646 - 47,337,277 (+)ENTREZGENE
CHM1_1X49,911,851 - 49,943,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127898   ⟹   NP_001121370
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,922,596 - 50,099,230 (+)NCBI
GRCh37X49,687,225 - 49,863,892 (+)ENTREZGENE
HuRefX47,156,646 - 47,337,277 (+)ENTREZGENE
CHM1_1X49,766,989 - 49,943,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127899   ⟹   NP_001121371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,922,596 - 50,099,230 (+)NCBI
GRCh37X49,687,225 - 49,863,892 (+)ENTREZGENE
HuRefX47,156,646 - 47,337,277 (+)ENTREZGENE
CHM1_1X49,766,989 - 49,943,526 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001272102   ⟹   NP_001259031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,922,596 - 50,042,541 (+)NCBI
GRCh37X49,687,225 - 49,863,892 (+)NCBI
HuRefX47,156,646 - 47,337,277 (+)NCBI
CHM1_1X49,766,989 - 49,886,937 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282163   ⟹   NP_001269092
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,069,501 - 50,099,230 (+)NCBI
HuRefX47,156,646 - 47,337,277 (+)NCBI
CHM1_1X49,913,792 - 49,943,526 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029257   ⟹   XP_016884746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,922,665 - 50,099,231 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029258   ⟹   XP_016884747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,922,615 - 50,099,231 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001121371   ⟸   NM_001127899
- Peptide Label: isoform a
- UniProtKB: P51795 (UniProtKB/Swiss-Prot),   B3KRR2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121370   ⟸   NM_001127898
- Peptide Label: isoform a
- UniProtKB: P51795 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000075   ⟸   NM_000084
- Peptide Label: isoform b
- UniProtKB: P51795 (UniProtKB/Swiss-Prot),   A8K4H5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001259031   ⟸   NM_001272102
- Peptide Label: isoform c
- UniProtKB: B3KRR2 (UniProtKB/TrEMBL),   V9GYG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269092   ⟸   NM_001282163
- Peptide Label: isoform d
- UniProtKB: P51795 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884747   ⟸   XM_017029258
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884746   ⟸   XM_017029257
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000304257   ⟸   ENST00000307367
RefSeq Acc Id: ENSP00000365256   ⟸   ENST00000376088
RefSeq Acc Id: ENSP00000365259   ⟸   ENST00000376091
RefSeq Acc Id: ENSP00000365276   ⟸   ENST00000376108
RefSeq Acc Id: ENSP00000476732   ⟸   ENST00000482218
RefSeq Acc Id: ENSP00000496353   ⟸   ENST00000642383
RefSeq Acc Id: ENSP00000496632   ⟸   ENST00000642885
RefSeq Acc Id: ENSP00000496056   ⟸   ENST00000643129
RefSeq Acc Id: ENSP00000495122   ⟸   ENST00000646398
Protein Domains
CBS

Promoters
RGD ID:13605318
Promoter ID:EPDNEW_H28843
Type:initiation region
Name:CLCN5_1
Description:chloride voltage-gated channel 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28844  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X49,922,647 - 49,922,707EPDNEW
RGD ID:13605320
Promoter ID:EPDNEW_H28844
Type:initiation region
Name:CLCN5_2
Description:chloride voltage-gated channel 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28843  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X50,067,588 - 50,067,648EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001127898.4(CLCN5):c.1382A>C (p.Asp461Ala) single nucleotide variant not provided [RCV000722622] ChrX:50086695 [GRCh38]
ChrX:49851352 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_001127898.4(CLCN5):c.2295del (p.Met766fs) deletion Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012572] ChrX:50090819 [GRCh38]
ChrX:49855476 [GRCh37]
ChrX:Xp11.23
pathogenic
CLCN5, ALU INS, EX11 insertion Dent disease type 1 [RCV000012575] ChrX:Xp11.22 pathogenic
NM_001127898.4(CLCN5):c.1557+1G>T single nucleotide variant Dent disease type 1 [RCV000012577] ChrX:50086871 [GRCh38]
ChrX:49851528 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) single nucleotide variant Dent disease type 1 [RCV000012563]|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012564] ChrX:50086360 [GRCh38]
ChrX:49851017 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) single nucleotide variant Dent disease type 1 [RCV000012565] ChrX:50090678 [GRCh38]
ChrX:49855335 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg) single nucleotide variant Dent disease type 1 [RCV000012566] ChrX:50081723 [GRCh38]
ChrX:49846380 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) single nucleotide variant Dent disease type 1 [RCV000012567] ChrX:50090139 [GRCh38]
ChrX:49854796 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) single nucleotide variant Nephrolithiasis, X-linked recessive [RCV000012568]|X-linked recessive nephrolithiasis with renal failure [RCV001004890] ChrX:50090846 [GRCh38]
ChrX:49855503 [GRCh37]
ChrX:Xp11.23
pathogenic|uncertain significance
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu) single nucleotide variant Nephrolithiasis, X-linked recessive [RCV000012569] ChrX:50088867 [GRCh38]
ChrX:49853524 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) single nucleotide variant Dent disease type 1 [RCV000192274]|Hypophosphatemic rickets, X-linked recessive [RCV000012570]|not provided [RCV000485318] ChrX:50085987 [GRCh38]
ChrX:49850644 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) single nucleotide variant Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012571] ChrX:50086551 [GRCh38]
ChrX:49851208 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro) single nucleotide variant Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV000012573] ChrX:50086362 [GRCh38]
ChrX:49851019 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.380G>T (p.Gly127Val) single nucleotide variant Nephrolithiasis, X-linked recessive [RCV000012574] ChrX:50072553 [GRCh38]
ChrX:49837208 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) single nucleotide variant Dent disease type 1 [RCV000012576] ChrX:50086035 [GRCh38]
ChrX:49850692 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys) single nucleotide variant Dent disease type 1 [RCV000033872] ChrX:50086543 [GRCh38]
ChrX:49851200 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) single nucleotide variant Dent disease type 1 [RCV000033873] ChrX:50090118 [GRCh38]
ChrX:49854775 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) single nucleotide variant Dent disease type 1 [RCV000033874] ChrX:50090218 [GRCh38]
ChrX:49854875 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) single nucleotide variant Dent disease type 1 [RCV000033875] ChrX:50090220 [GRCh38]
ChrX:49854877 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro) single nucleotide variant Dent disease type 1 [RCV000033876] ChrX:50081798 [GRCh38]
ChrX:49846455 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys) single nucleotide variant Dent disease type 1 [RCV000033877] ChrX:50086338 [GRCh38]
ChrX:49850995 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe) single nucleotide variant Dent disease type 1 [RCV000033878] ChrX:50086357 [GRCh38]
ChrX:49851014 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
NM_001127898.4(CLCN5):c.1828G>A (p.Ala610Thr) single nucleotide variant not provided [RCV000054560] ChrX:50090199 [GRCh38]
ChrX:49854856 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1984G>A (p.Asp662Asn) single nucleotide variant not provided [RCV000054561] ChrX:50090355 [GRCh38]
ChrX:49855012 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.867C>T (p.Cys289=) single nucleotide variant not provided [RCV000054562] ChrX:50081781 [GRCh38]
ChrX:49846438 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23(chrX:49862612-49964651)x4 copy number gain See cases [RCV000141367] ChrX:49862612..49964651 [GRCh38]
ChrX:49631636..49729261 [GRCh37]
ChrX:49513953..49616001 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp11.23(chrX:49972424-50012442)x3 copy number gain See cases [RCV000141368] ChrX:49972424..50012442 [GRCh38]
ChrX:49737035..49777050 [GRCh37]
ChrX:49623775..49663790 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.11:g.(?_49922616)_(50099235_?)del deletion Dent disease type 1 [RCV000192283] ChrX:49922616..50099235 [GRCh38]
ChrX:Xp11.23
pathogenic
NC_000023.11:g.(?_49922616)_(50099235_?)del deletion Dent disease type 1 [RCV000192284] ChrX:49922616..50099235 [GRCh38]
ChrX:Xp11.23
pathogenic
NC_000023.11:g.(?_49922616)_(50099235_?)del deletion Dent disease type 1 [RCV000192285] ChrX:49922616..50099235 [GRCh38]
ChrX:Xp11.23
pathogenic
Single allele variation Dent disease type 1 [RCV000192286] ChrX:Xp11.23 pathogenic
Single allele variation Hypophosphatemic rickets, X-linked recessive [RCV000192287] ChrX:Xp11.23 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter) single nucleotide variant Dent disease type 1 [RCV000192273] ChrX:50070025 [GRCh38]
ChrX:49834680 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter) single nucleotide variant Dent disease type 1 [RCV000192275] ChrX:50086359 [GRCh38]
ChrX:49851016 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) single nucleotide variant Dent disease type 1 [RCV000192276]|not provided [RCV000381538] ChrX:50086562 [GRCh38]
ChrX:49851219 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter) single nucleotide variant Dent disease type 1 [RCV000192277]|not provided [RCV000681792] ChrX:50088749 [GRCh38]
ChrX:49853406 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) single nucleotide variant Dent disease type 1 [RCV000192278] ChrX:50090127 [GRCh38]
ChrX:49854784 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) single nucleotide variant Dent disease type 1 [RCV000192279]|not provided [RCV000414429] ChrX:50090490 [GRCh38]
ChrX:49855147 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter) single nucleotide variant Dent disease type 1 [RCV000192280] ChrX:50092130 [GRCh38]
ChrX:49856787 [GRCh37]
ChrX:Xp11.23
pathogenic
NG_007159.3:g.(?_162979)_(164232_?)del deletion Dent disease type 1 [RCV000192281] ChrX:50080594..50081847 [GRCh38]
ChrX:49845251..49846504 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs) deletion Dent disease type 1 [RCV000192282] ChrX:50092157..50092179 [GRCh38]
ChrX:49856814..49856836 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001127898.4(CLCN5):c.*2980A>G single nucleotide variant Dent disease type 1 [RCV000302955] ChrX:50095199 [GRCh38]
ChrX:49859856 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001127898.4(CLCN5):c.*869A>G single nucleotide variant Dent disease [RCV000303012] ChrX:50093088 [GRCh38]
ChrX:49857745 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) single nucleotide variant Dent disease type 1 [RCV000295672] ChrX:50090831 [GRCh38]
ChrX:49855488 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1558-14G>C single nucleotide variant Dent disease [RCV000280548]|not provided [RCV001512380] ChrX:50088684 [GRCh38]
ChrX:49853341 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) single nucleotide variant Dent disease type 1 [RCV000365075] ChrX:50081839 [GRCh38]
ChrX:49846496 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_001127898.4(CLCN5):c.696G>A (p.Ala232=) single nucleotide variant Dent disease type 1 [RCV000269242] ChrX:50080686 [GRCh38]
ChrX:49845343 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*477G>A single nucleotide variant Dent disease type 1 [RCV000306386] ChrX:50092696 [GRCh38]
ChrX:49857353 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*6608C>T single nucleotide variant Dent disease type 1 [RCV000306460] ChrX:50098827 [GRCh38]
ChrX:49863484 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*1447T>G single nucleotide variant Dent disease type 1 [RCV000354597] ChrX:50093666 [GRCh38]
ChrX:49858323 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.1243C>T (p.Arg415Trp) single nucleotide variant Dent disease type 1 [RCV000321225] ChrX:50086556 [GRCh38]
ChrX:49851213 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_001127898.4(CLCN5):c.*2324G>A single nucleotide variant Dent disease type 1 [RCV000343894] ChrX:50094543 [GRCh38]
ChrX:49859200 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001127898.4(CLCN5):c.*6538G>A single nucleotide variant Dent disease type 1 [RCV000392269] ChrX:50098757 [GRCh38]
ChrX:49863414 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*4297A>C single nucleotide variant Dent disease type 1 [RCV000270934] ChrX:50096516 [GRCh38]
ChrX:49861173 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*969A>C single nucleotide variant Dent disease [RCV000357835] ChrX:50093188 [GRCh38]
ChrX:49857845 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*6372T>C single nucleotide variant Dent disease type 1 [RCV000369370] ChrX:50098591 [GRCh38]
ChrX:49863248 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*1735T>C single nucleotide variant Dent disease type 1 [RCV000273818] ChrX:50093954 [GRCh38]
ChrX:49858611 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*6275_*6277GTA[3] microsatellite Dent disease [RCV000312317] ChrX:50098493..50098494 [GRCh38]
ChrX:49863150..49863151 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.*3627C>T single nucleotide variant Dent disease type 1 [RCV000311892] ChrX:50095846 [GRCh38]
ChrX:49860503 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.164-2301G>A single nucleotide variant Dent disease [RCV000313020] ChrX:50067578 [GRCh38]
ChrX:49832233 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.*4192C>T single nucleotide variant Dent disease type 1 [RCV000363119] ChrX:50096411 [GRCh38]
ChrX:49861068 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*6638G>A single nucleotide variant Dent disease type 1 [RCV000363440] ChrX:50098857 [GRCh38]
ChrX:49863514 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.2321G>A (p.Arg774Gln) single nucleotide variant not provided [RCV000308874] ChrX:50090847 [GRCh38]
ChrX:49855504 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*2557A>G single nucleotide variant Dent disease type 1 [RCV000347238] ChrX:50094776 [GRCh38]
ChrX:49859433 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3937C>A single nucleotide variant Dent disease type 1 [RCV000276644] ChrX:50096156 [GRCh38]
ChrX:49860813 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.416-6A>T single nucleotide variant Dent disease type 1 [RCV000314400]|not provided [RCV000964096] ChrX:50075789 [GRCh38]
ChrX:49840444 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.164-2276G>A single nucleotide variant Dent disease type 1 [RCV000367852] ChrX:50067603 [GRCh38]
ChrX:49832258 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) single nucleotide variant Dent disease type 1 [RCV000317704]|not provided [RCV000889388] ChrX:50086735 [GRCh38]
ChrX:49851392 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*3652T>C single nucleotide variant Dent disease [RCV000368809] ChrX:50095871 [GRCh38]
ChrX:49860528 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*6143C>T single nucleotide variant Dent disease [RCV000281344] ChrX:50098362 [GRCh38]
ChrX:49863019 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.*1564_*1567del deletion Dent disease [RCV000319658] ChrX:50093781..50093784 [GRCh38]
ChrX:49858438..49858441 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) single nucleotide variant Dent disease type 1 [RCV000375110]|not provided [RCV000923957] ChrX:50086786 [GRCh38]
ChrX:49851443 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*1723G>A single nucleotide variant Dent disease [RCV000374349] ChrX:50093942 [GRCh38]
ChrX:49858599 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*5144C>T single nucleotide variant Dent disease type 1 [RCV000283850] ChrX:50097363 [GRCh38]
ChrX:49862020 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*5349del deletion Dent disease [RCV000322476] ChrX:50097557 [GRCh38]
ChrX:49862214 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*4692C>T single nucleotide variant Dent disease type 1 [RCV000328404] ChrX:50096911 [GRCh38]
ChrX:49861568 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.819= (p.Ser273=) single nucleotide variant Dent disease type 1 [RCV000329041]|not provided [RCV000948155] ChrX:50081733 [GRCh38]
ChrX:49846390 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*5815T>C single nucleotide variant Dent disease type 1 [RCV000379385] ChrX:50098034 [GRCh38]
ChrX:49862691 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln) single nucleotide variant Dent disease [RCV000380459]|not provided [RCV000888782] ChrX:50086557 [GRCh38]
ChrX:49851214 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*5899_*5900del deletion Dent disease [RCV000287223] ChrX:50098112..50098113 [GRCh38]
ChrX:49862769..49862770 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*1874G>A single nucleotide variant Dent disease type 1 [RCV000331215] ChrX:50094093 [GRCh38]
ChrX:49858750 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*2460G>A single nucleotide variant Dent disease type 1 [RCV000382181] ChrX:50094679 [GRCh38]
ChrX:49859336 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*5140A>G single nucleotide variant Dent disease type 1 [RCV000384741] ChrX:50097359 [GRCh38]
ChrX:49862016 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=) single nucleotide variant Dent disease [RCV000385508]|not provided [RCV001514241]|not specified [RCV000443529] ChrX:50090285 [GRCh38]
ChrX:49854942 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*2479G>A single nucleotide variant Dent disease type 1 [RCV000289974] ChrX:50094698 [GRCh38]
ChrX:49859355 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*4034A>T single nucleotide variant Dent disease type 1 [RCV000334187] ChrX:50096253 [GRCh38]
ChrX:49860910 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001127898.4(CLCN5):c.*5895T>A single nucleotide variant Dent disease type 1 [RCV000335278] ChrX:50098114 [GRCh38]
ChrX:49862771 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*2270A>G single nucleotide variant Dent disease type 1 [RCV000388044] ChrX:50094489 [GRCh38]
ChrX:49859146 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*6217G>A single nucleotide variant Dent disease type 1 [RCV000337964] ChrX:50098436 [GRCh38]
ChrX:49863093 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001127898.4(CLCN5):c.*403_*406del deletion Dent disease [RCV000390513] ChrX:50092620..50092623 [GRCh38]
ChrX:49857277..49857280 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.164-2249C>T single nucleotide variant Dent disease type 1 [RCV000392639] ChrX:50067630 [GRCh38]
ChrX:49832285 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1213C>T (p.Leu405=) single nucleotide variant not provided [RCV000277341] ChrX:50086526 [GRCh38]
ChrX:49851183 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3071A>G single nucleotide variant Dent disease type 1 [RCV000341245] ChrX:50095290 [GRCh38]
ChrX:49859947 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*1470C>T single nucleotide variant Dent disease [RCV000259753] ChrX:50093689 [GRCh38]
ChrX:49858346 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.*2317G>A single nucleotide variant Dent disease type 1 [RCV000296075] ChrX:50094536 [GRCh38]
ChrX:49859193 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3255C>T single nucleotide variant Dent disease [RCV000297042] ChrX:50095474 [GRCh38]
ChrX:49860131 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*5956T>C single nucleotide variant Dent disease [RCV000399507] ChrX:50098175 [GRCh38]
ChrX:49862832 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*6240G>C single nucleotide variant Dent disease type 1 [RCV000399768] ChrX:50098459 [GRCh38]
ChrX:49863116 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3495A>G single nucleotide variant Dent disease type 1 [RCV000263683] ChrX:50095714 [GRCh38]
ChrX:49860371 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_001127898.4(CLCN5):c.*2860T>C single nucleotide variant Dent disease [RCV000401670] ChrX:50095079 [GRCh38]
ChrX:49859736 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) single nucleotide variant Dent disease type 1 [RCV000266173]|not provided [RCV001510626] ChrX:50086516 [GRCh38]
ChrX:49851173 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*504G>C single nucleotide variant Dent disease type 1 [RCV000347486] ChrX:50092723 [GRCh38]
ChrX:49857380 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met) single nucleotide variant Dent disease type 1 [RCV000349680] ChrX:50090187 [GRCh38]
ChrX:49854844 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_001127898.4(CLCN5):c.*349G>A single nucleotide variant Dent disease [RCV000350634] ChrX:50092568 [GRCh38]
ChrX:49857225 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.*559A>G single nucleotide variant Dent disease type 1 [RCV000407070] ChrX:50092778 [GRCh38]
ChrX:49857435 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) single nucleotide variant Dent disease type 1 [RCV000364337]|not provided [RCV000885931] ChrX:50080626 [GRCh38]
ChrX:49845283 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.1251A>G (p.Arg417=) single nucleotide variant Dent disease [RCV000267166] ChrX:50086564 [GRCh38]
ChrX:49851221 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.*1160del deletion Dent disease [RCV000267948] ChrX:50093378 [GRCh38]
ChrX:49858035 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*1292C>T single nucleotide variant Dent disease type 1 [RCV000304340] ChrX:50093511 [GRCh38]
ChrX:49858168 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3409A>G single nucleotide variant Dent disease type 1 [RCV000354217] ChrX:50095628 [GRCh38]
ChrX:49860285 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*3090C>T single nucleotide variant Dent disease type 1 [RCV000408009] ChrX:50095309 [GRCh38]
ChrX:49859966 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.2261A>G (p.Asp754Gly) single nucleotide variant not provided [RCV000722337] ChrX:50090787 [GRCh38]
ChrX:49855444 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001127898.4(CLCN5):c.164-2333T>G single nucleotide variant Dent disease [RCV000262347] ChrX:50067546 [GRCh38]
ChrX:49832201 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.1374del (p.Phe459fs) deletion Inborn genetic diseases [RCV000622711] ChrX:50086687 [GRCh38]
ChrX:49851344 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter) single nucleotide variant Dent disease type 1 [RCV000578351] ChrX:50075954 [GRCh38]
ChrX:49840609 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2283_2286del (p.Asp762fs) microsatellite not provided [RCV000598774] ChrX:50090805..50090808 [GRCh38]
ChrX:49855462..49855465 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.1087C>T (p.Arg363Cys) single nucleotide variant not provided [RCV000728615] ChrX:50086400 [GRCh38]
ChrX:49851057 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) single nucleotide variant not provided [RCV000897404]|not specified [RCV000594725] ChrX:50086570 [GRCh38]
ChrX:49851227 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter) single nucleotide variant Dent disease type 1 [RCV000505611] ChrX:50088816 [GRCh38]
ChrX:49853473 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001127898.4(CLCN5):c.1061C>T (p.Ala354Val) single nucleotide variant Dent disease type 1 [RCV000449620] ChrX:50086374 [GRCh38]
ChrX:49851031 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001127898.4(CLCN5):c.1796C>T (p.Thr599Ile) single nucleotide variant not provided [RCV000494019] ChrX:50090167 [GRCh38]
ChrX:49854824 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic|uncertain significance
NM_001127898.4(CLCN5):c.1607G>T (p.Gly536Val) single nucleotide variant not provided [RCV000494564] ChrX:50088747 [GRCh38]
ChrX:49853404 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter) single nucleotide variant Dent disease type 1 [RCV000995509]|not provided [RCV000578984] ChrX:50070007 [GRCh38]
ChrX:49834662 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001127898.4(CLCN5):c.1551del (p.Gly517_Met518insTer) deletion Hyperkalemia [RCV000626586] ChrX:50086864 [GRCh38]
ChrX:49851521 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001127898.4(CLCN5):c.344G>A (p.Trp115Ter) single nucleotide variant Dent disease type 1 [RCV000679942] ChrX:50072517 [GRCh38]
ChrX:49837172 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His) single nucleotide variant Dent disease type 1 [RCV000714293] ChrX:50086709 [GRCh38]
ChrX:49851366 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:49360237-49795931)x2 copy number gain not provided [RCV000684332] ChrX:49360237..49795931 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_001127898.4(CLCN5):c.2116C>T (p.Leu706Phe) single nucleotide variant not provided [RCV000681844] ChrX:50090487 [GRCh38]
ChrX:49855144 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.415+1G>A single nucleotide variant not provided [RCV000681864] ChrX:50072589 [GRCh38]
ChrX:49837244 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1466C>T (p.Pro489Leu) single nucleotide variant Hypophosphatemic rickets, X-linked recessive [RCV000710033] ChrX:50086779 [GRCh38]
ChrX:49851436 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) single nucleotide variant not provided [RCV000762639] ChrX:50090727 [GRCh38]
ChrX:49855384 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.17-39087= variation Dent disease type 1 [RCV000990824] ChrX:50003229 [GRCh38]
ChrX:49767835 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.*5377G>A single nucleotide variant Dent disease type 1 [RCV001166397] ChrX:50097596 [GRCh38]
ChrX:49862253 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.819A>G (p.Ser273=) single nucleotide variant not provided [RCV000948154] ChrX:50081733 [GRCh38]
ChrX:49846390 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.2180C>G (p.Thr727Ser) single nucleotide variant not provided [RCV000905470] ChrX:50090706 [GRCh38]
ChrX:49855363 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.728_745dup (p.Gly249_Phe250insValLysThrIleLeuSer) duplication not provided [RCV001064892] ChrX:50081641..50081642 [GRCh38]
ChrX:49846298..49846299 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) single nucleotide variant Dent disease type 1 [RCV001166733]|not provided [RCV001047653] ChrX:50075827 [GRCh38]
ChrX:49840482 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.164-2118G>T single nucleotide variant Dent disease type 1 [RCV000778897] ChrX:50067761 [GRCh38]
ChrX:49832416 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1293C>T (p.Leu431=) single nucleotide variant not provided [RCV000979717] ChrX:50086606 [GRCh38]
ChrX:49851263 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001127898.4(CLCN5):c.1224C>T (p.Arg408=) single nucleotide variant not provided [RCV000937873] ChrX:50086537 [GRCh38]
ChrX:49851194 [GRCh37]
ChrX:Xp11.23
likely benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001127898.4(CLCN5):c.*3957C>G single nucleotide variant Dent disease type 1 [RCV001168565] ChrX:50096176 [GRCh38]
ChrX:49860833 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3388T>G single nucleotide variant Dent disease type 1 [RCV001166854] ChrX:50095607 [GRCh38]
ChrX:49860264 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*5240T>C single nucleotide variant Dent disease type 1 [RCV001166395] ChrX:50097459 [GRCh38]
ChrX:49862116 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*5340A>C single nucleotide variant Dent disease type 1 [RCV001166396] ChrX:50097559 [GRCh38]
ChrX:49862216 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001127898.4(CLCN5):c.*1625C>T single nucleotide variant Dent disease type 1 [RCV001168512] ChrX:50093844 [GRCh38]
ChrX:49858501 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*969A>G single nucleotide variant Dent disease type 1 [RCV001166802] ChrX:50093188 [GRCh38]
ChrX:49857845 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*5970C>T single nucleotide variant Dent disease type 1 [RCV001166919] ChrX:50098189 [GRCh38]
ChrX:49862846 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*6482C>T single nucleotide variant Dent disease type 1 [RCV001168633] ChrX:50098701 [GRCh38]
ChrX:49863358 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.942G>A (p.Ser314=) single nucleotide variant Dent disease type 1 [RCV001166391] ChrX:50085988 [GRCh38]
ChrX:49850645 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His) single nucleotide variant Dent disease type 1 [RCV001168452]|not provided [RCV001402929] ChrX:50086536 [GRCh38]
ChrX:49851193 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.315+12G>A single nucleotide variant Dent disease type 1 [RCV001166732] ChrX:50070042 [GRCh38]
ChrX:49834697 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001127898.4(CLCN5):c.727-5T>C single nucleotide variant not provided [RCV000942691] ChrX:50081636 [GRCh38]
ChrX:49846293 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.1745G>T (p.Gly582Val) single nucleotide variant not provided [RCV000788927] ChrX:50090116 [GRCh38]
ChrX:49854773 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.554A>G (p.Lys185Arg) single nucleotide variant Dent disease type 1 [RCV001166734]|not provided [RCV001410397] ChrX:50075933 [GRCh38]
ChrX:49840588 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.*6163T>C single nucleotide variant Dent disease type 1 [RCV001166920] ChrX:50098382 [GRCh38]
ChrX:49863039 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*6694C>T single nucleotide variant Dent disease type 1 [RCV001168634] ChrX:50098913 [GRCh38]
ChrX:49863570 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.2143_2143+10del deletion not provided [RCV001055966] ChrX:50090512..50090522 [GRCh38]
ChrX:49855169..49855179 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.933+3A>C single nucleotide variant Dent disease type 1 [RCV001029958] ChrX:50081850 [GRCh38]
ChrX:49846507 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.316-17T>G single nucleotide variant Bethlem myopathy 1 [RCV001258307]|not provided [RCV000999430] ChrX:50072472 [GRCh38]
ChrX:49837127 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs) deletion Dent disease type 1 [RCV001200919] ChrX:50090762 [GRCh38]
ChrX:49855419 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs) duplication Dent disease type 1 [RCV001200668] ChrX:50090136..50090137 [GRCh38]
ChrX:49854793..49854794 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.845del (p.Gly282fs) deletion not provided [RCV001008355] ChrX:50081757 [GRCh38]
ChrX:49846414 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) single nucleotide variant not provided [RCV001239439] ChrX:50090724 [GRCh38]
ChrX:49855381 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1917T>G (p.Phe639Leu) single nucleotide variant not provided [RCV001221610] ChrX:50090288 [GRCh38]
ChrX:49854945 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala) single nucleotide variant X-linked recessive nephrolithiasis with renal failure [RCV001196885] ChrX:50090723 [GRCh38]
ChrX:49855380 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn) single nucleotide variant Dent disease type 1 [RCV001250478] ChrX:50090181 [GRCh38]
ChrX:49854838 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.*379G>C single nucleotide variant Dent disease type 1 [RCV001166274] ChrX:50092598 [GRCh38]
ChrX:49857255 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*2849C>T single nucleotide variant Dent disease type 1 [RCV001166331] ChrX:50095068 [GRCh38]
ChrX:49859725 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*5844C>T single nucleotide variant Dent disease type 1 [RCV001166398] ChrX:50098063 [GRCh38]
ChrX:49862720 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1685A>G (p.Gln562Arg) single nucleotide variant not provided [RCV001212026] ChrX:50088825 [GRCh38]
ChrX:49853482 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1488T>C (p.Ser496=) single nucleotide variant Dent disease type 1 [RCV001169191] ChrX:50086801 [GRCh38]
ChrX:49851458 [GRCh37]
ChrX:Xp11.23
benign
NM_001127898.4(CLCN5):c.1872G>A (p.Arg624=) single nucleotide variant Dent disease type 1 [RCV001169192] ChrX:50090243 [GRCh38]
ChrX:49854900 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.933+2T>C single nucleotide variant Dent disease type 1 [RCV001580335] ChrX:50081849 [GRCh38]
ChrX:49846506 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1852G>A (p.Val618Met) single nucleotide variant not provided [RCV000936485] ChrX:50090223 [GRCh38]
ChrX:49854880 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.*866A>G single nucleotide variant Dent disease type 1 [RCV001166801] ChrX:50093085 [GRCh38]
ChrX:49857742 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3091G>A single nucleotide variant Dent disease type 1 [RCV001166853] ChrX:50095310 [GRCh38]
ChrX:49859967 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.976G>C (p.Gly326Arg) single nucleotide variant Dent disease type 1 [RCV001580334] ChrX:50086022 [GRCh38]
ChrX:49850679 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2361-67C>T single nucleotide variant not provided [RCV001560224] ChrX:50092062 [GRCh38]
ChrX:49856719 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001127898.4(CLCN5):c.*4740C>G single nucleotide variant Dent disease type 1 [RCV001169329] ChrX:50096959 [GRCh38]
ChrX:49861616 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 copy number gain not provided [RCV001537899] ChrX:47179068..54424785 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001127898.4(CLCN5):c.164-2130C>T single nucleotide variant Dent disease type 1 [RCV001166731] ChrX:50067749 [GRCh38]
ChrX:49832404 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1426C>T (p.Arg476Cys) single nucleotide variant not provided [RCV001217517] ChrX:50086739 [GRCh38]
ChrX:49851396 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*3912C>T single nucleotide variant Dent disease type 1 [RCV001168564] ChrX:50096131 [GRCh38]
ChrX:49860788 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*1868T>C single nucleotide variant Dent disease type 1 [RCV001168513] ChrX:50094087 [GRCh38]
ChrX:49858744 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*6841T>C single nucleotide variant Dent disease type 1 [RCV001168635] ChrX:50099060 [GRCh38]
ChrX:49863717 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*6955C>G single nucleotide variant Dent disease type 1 [RCV001168636] ChrX:50099174 [GRCh38]
ChrX:49863831 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001127898.4(CLCN5):c.*1887G>C single nucleotide variant Dent disease type 1 [RCV001169250] ChrX:50094106 [GRCh38]
ChrX:49858763 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*1938G>A single nucleotide variant Dent disease type 1 [RCV001169251] ChrX:50094157 [GRCh38]
ChrX:49858814 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*5088G>T single nucleotide variant Dent disease type 1 [RCV001169331] ChrX:50097307 [GRCh38]
ChrX:49861964 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.477_478dup (p.Cys160fs) microsatellite Dent disease type 1 [RCV001200918] ChrX:50075852..50075853 [GRCh38]
ChrX:49840507..49840508 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) single nucleotide variant Dent disease type 1 [RCV001166272] ChrX:50090819 [GRCh38]
ChrX:49855476 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys) single nucleotide variant Dent disease type 1 [RCV001195723] ChrX:50090222 [GRCh38]
ChrX:49854879 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs) microsatellite Dent disease type 1 [RCV001200917] ChrX:50090139..50090140 [GRCh38]
ChrX:49854796..49854797 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) deletion Dent disease type 1 [RCV001200921] ChrX:50086489 [GRCh38]
ChrX:49851146 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.334G>T (p.Glu112Ter) single nucleotide variant Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV001250540] ChrX:50072507 [GRCh38]
ChrX:49837162 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.*2384A>C single nucleotide variant Dent disease type 1 [RCV001169252] ChrX:50094603 [GRCh38]
ChrX:49859260 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*4606A>C single nucleotide variant Dent disease type 1 [RCV001169328] ChrX:50096825 [GRCh38]
ChrX:49861482 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*4911G>A single nucleotide variant Dent disease type 1 [RCV001169330] ChrX:50097130 [GRCh38]
ChrX:49861787 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*39C>T single nucleotide variant Dent disease type 1 [RCV001166273] ChrX:50092258 [GRCh38]
ChrX:49856915 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.*1339A>G single nucleotide variant Dent disease type 1 [RCV001166803] ChrX:50093558 [GRCh38]
ChrX:49858215 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter) single nucleotide variant Dent disease type 1 [RCV001251460] ChrX:50086754 [GRCh38]
ChrX:49851411 [GRCh37]
ChrX:Xp11.23
pathogenic|uncertain significance
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) single nucleotide variant Dent disease type 1 [RCV001253531] ChrX:50090868 [GRCh38]
ChrX:49855525 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter) single nucleotide variant Dent disease type 1 [RCV001251505] ChrX:50086058 [GRCh38]
ChrX:49850715 [GRCh37]
ChrX:Xp11.23
pathogenic|uncertain significance
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs) duplication Dent disease type 1 [RCV001252964] ChrX:50086638..50086639 [GRCh38]
ChrX:49851295..49851296 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs) deletion Dent disease type 1 [RCV001262324] ChrX:50072504..50072505 [GRCh38]
ChrX:49837159..49837160 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001127898.4(CLCN5):c.416-1G>C single nucleotide variant not provided [RCV001268581] ChrX:50075794 [GRCh38]
ChrX:49840449 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.384G>C (p.Trp128Cys) single nucleotide variant Dent disease type 1 [RCV001280860] ChrX:50072557 [GRCh38]
ChrX:49837212 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.328del (p.Ser110fs) deletion Inborn genetic diseases [RCV001266436] ChrX:50072498 [GRCh38]
ChrX:49837153 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.961G>A (p.Val321Ile) single nucleotide variant Dent disease type 1 [RCV001262337] ChrX:50086007 [GRCh38]
ChrX:49850664 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001127898.4(CLCN5):c.604-2A>G single nucleotide variant Nephrotic syndrome [RCV001328282] ChrX:50080592 [GRCh38]
ChrX:49845249 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.941C>A (p.Ser314Ter) single nucleotide variant Hypophosphatemic rickets, X-linked recessive [RCV001330763] ChrX:50085987 [GRCh38]
ChrX:49850644 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs) deletion Dent disease type 1 [RCV001328284] ChrX:50088703 [GRCh38]
ChrX:49853360 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met) single nucleotide variant not provided [RCV001297120] ChrX:50086610 [GRCh38]
ChrX:49851267 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln) single nucleotide variant Dent disease type 1 [RCV001356240]|Hypophosphatemic rickets, X-linked recessive [RCV001354995]|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis [RCV001358011]|X-linked recessive nephrolithiasis with renal failure [RCV001355708] ChrX:50042451 [GRCh38]
ChrX:49807060 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg) single nucleotide variant Nephrotic syndrome [RCV001328283] ChrX:50081785 [GRCh38]
ChrX:49846442 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.1730del (p.Ala577fs) deletion Dent disease type 1 [RCV001328285] ChrX:50088870 [GRCh38]
ChrX:49853527 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_001127898.4(CLCN5):c.2087G>A (p.Arg696Gln) single nucleotide variant not provided [RCV001327201] ChrX:50090458 [GRCh38]
ChrX:49855115 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.583C>G (p.Leu195Val) single nucleotide variant not provided [RCV001360407] ChrX:50075962 [GRCh38]
ChrX:49840617 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.2361-3T>G single nucleotide variant not provided [RCV001296407] ChrX:50092126 [GRCh38]
ChrX:49856783 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1222C>T (p.Arg408Cys) single nucleotide variant not provided [RCV001359686] ChrX:50086535 [GRCh38]
ChrX:49851192 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_001127898.4(CLCN5):c.1302A>G (p.Thr434=) single nucleotide variant not provided [RCV001475213] ChrX:50086615 [GRCh38]
ChrX:49851272 [GRCh37]
ChrX:Xp11.23
likely benign
NM_001127898.4(CLCN5):c.1092dup (p.Ile365fs) duplication not provided [RCV001387670] ChrX:50086403..50086404 [GRCh38]
ChrX:49851060..49851061 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val) single nucleotide variant not provided [RCV001403950] ChrX:50081710 [GRCh38]
ChrX:49846367 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_49845231)_(49851547_?)del deletion not provided [RCV001385627] ChrX:49845231..49851547 [GRCh37]
ChrX:Xp11.22
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2023 AgrOrtholog
COSMIC CLCN5 COSMIC
Ensembl Genes ENSG00000171365 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000304257 UniProtKB/Swiss-Prot
  ENSP00000365256 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365259 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365276 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000476732 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000495122 UniProtKB/TrEMBL
  ENSP00000496056 UniProtKB/TrEMBL
  ENSP00000496353 UniProtKB/TrEMBL
  ENSP00000496632 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307367 UniProtKB/Swiss-Prot
  ENST00000376088 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376108 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000482218 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000642383 UniProtKB/TrEMBL
  ENST00000642885 UniProtKB/Swiss-Prot
  ENST00000643129 UniProtKB/TrEMBL
  ENST00000646398 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171365 GTEx
HGNC ID HGNC:2023 ENTREZGENE
Human Proteome Map CLCN5 Human Proteome Map
InterPro CBS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl-channel_volt-gated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cl_channel-5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1184 UniProtKB/Swiss-Prot
NCBI Gene 1184 ENTREZGENE
OMIM 300008 OMIM
  300009 OMIM
  300554 OMIM
  308990 OMIM
  310468 OMIM
Pfam CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage_CLC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26550 PharmGKB
PRINTS CLCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLCHANNEL5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CBS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81340 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6C4_HUMAN UniProtKB/TrEMBL
  A0A2R8YF14_HUMAN UniProtKB/TrEMBL
  A0A2R8YGW0_HUMAN UniProtKB/TrEMBL
  A8K4H5 ENTREZGENE, UniProtKB/TrEMBL
  B3KRR2 ENTREZGENE, UniProtKB/TrEMBL
  CLCN5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9GYG7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A1L475 UniProtKB/Swiss-Prot
  B3KPN6 UniProtKB/Swiss-Prot
  Q5JQD5 UniProtKB/Swiss-Prot
  Q7RTN8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-09 CLCN5  chloride voltage-gated channel 5  NPHL1  nephrolithiasis 1 (X-linked)  Data Merged 737654 PROVISIONAL
2016-02-10 CLCN5  chloride voltage-gated channel 5  CLCN5  chloride channel, voltage-sensitive 5  Symbol and/or name change 5135510 APPROVED
2012-03-01 CLCN5  chloride channel, voltage-sensitive 5  CLCN5  chloride channel 5  Symbol and/or name change 5135510 APPROVED
2011-08-16 CLCN5  chloride channel 5  CLCN5  chloride channel 5  Symbol and/or name change 5135510 APPROVED