KDM5C (lysine demethylase 5C) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: KDM5C (lysine demethylase 5C) Homo sapiens
Analyze
Symbol: KDM5C
Name: lysine demethylase 5C
RGD ID: 1349337
HGNC Page HGNC
Description: Exhibits histone demethylase activity (H3-K4 specific) and zinc ion binding activity. Involved in histone H3-K4 demethylation. Localizes to cytosol and nucleoplasm. Implicated in syndromic X-linked intellectual disability Claes-Jensen type. Biomarker of Huntington's disease and breast cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: [histone H3]-trimethyl-L-lysine(4) demethylase 5C; DXS1272E; histone demethylase JARID1C; JARID1C; JmjC domain-containing protein SMCX; jumonji, AT rich interactive domain 1C; Jumonji, AT rich interactive domain 1C (RBP2-like); Jumonji/ARID domain-containing protein 1C; lysine (K)-specific demethylase 5C; lysine-specific demethylase 5C; mental retardation, X-linked 13; MRX13; MRXJ; MRXSCJ; MRXSJ; selected cDNA on X; SMCX; Smcx homolog, X chromosome; Smcy homolog, X-linked; smcy homolog, x-linked (mouse); XE169
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 EnsemblX53,191,321 - 53,225,422 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,176,277 - 53,225,207 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,205,459 - 53,254,389 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,237,378 - 53,271,329 (-)NCBINCBI36hg18NCBI36
Build 34X53,104,473 - 53,137,625NCBI
CeleraX57,049,741 - 57,083,840 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,285,660 - 50,319,741 (-)NCBIHuRef
CHM1_1X53,210,762 - 53,244,827 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal facial shape  (IAGP)
Aggressive behavior  (IAGP)
Autism  (IAGP)
Babinski sign  (IAGP)
Brachydactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Clinodactyly  (IAGP)
Cryptorchidism  (IAGP)
Decreased testicular size  (IAGP)
Deeply set eye  (IAGP)
Delayed speech and language development  (IAGP)
Diastema  (IAGP)
Distal lower limb amyotrophy  (IAGP)
Facial hypotonia  (IAGP)
Furrowed tongue  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hirsutism  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, progressive  (IAGP)
Intellectual disability, severe  (IAGP)
Large hands  (IAGP)
Low frustration tolerance  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb hypertonia  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple myeloma  (IAGP)
Myopia  (IAGP)
Patchy alopecia  (IAGP)
Pectus excavatum  (IAGP)
Progressive spastic paraplegia  (IAGP)
Prominent nasal bridge  (IAGP)
Protruding ear  (IAGP)
Restlessness  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short distal phalanx of finger  (IAGP)
Short foot  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Shuffling gait  (IAGP)
Small forehead  (IAGP)
Smooth philtrum  (IAGP)
Spastic paraplegia  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Talipes calcaneovarus  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Thin upper lip vermilion  (IAGP)
Upslanted palpebral fissure  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1605216   PMID:7951230   PMID:8162017   PMID:12477932   PMID:14660691   PMID:15302935   PMID:15586325   PMID:15772651   PMID:15840729   PMID:16344560   PMID:16538222   PMID:16541399  
PMID:16964243   PMID:17081983   PMID:17320160   PMID:17320161   PMID:17468742   PMID:18078810   PMID:19346402   PMID:19826449   PMID:20054297   PMID:20133580   PMID:20538609   PMID:21575681  
PMID:21725364   PMID:21873635   PMID:21996408   PMID:22611640   PMID:22658674   PMID:22939629   PMID:23246292   PMID:23356856   PMID:24029645   PMID:24583395   PMID:25016185   PMID:25222147  
PMID:25609649   PMID:25666439   PMID:25712104   PMID:26059843   PMID:26182878   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26503415   PMID:26551685   PMID:26580603   PMID:26621457  
PMID:26645689   PMID:26858085   PMID:26864203   PMID:26919706   PMID:27058665   PMID:27211531   PMID:27214403   PMID:27696497   PMID:27869828   PMID:27896428   PMID:28262558   PMID:28319113  
PMID:28408295   PMID:28514442   PMID:29339538   PMID:29507620   PMID:29507755   PMID:30257334   PMID:30355451   PMID:30921702   PMID:31221981   PMID:31691806   PMID:31753913   PMID:32392963  
PMID:32416067   PMID:32694731   PMID:32786267   PMID:33306820   PMID:33400184  


Genomics

Comparative Map Data
KDM5C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,191,321 - 53,225,422 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,176,277 - 53,225,207 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,205,459 - 53,254,389 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,237,378 - 53,271,329 (-)NCBINCBI36hg18NCBI36
Build 34X53,104,473 - 53,137,625NCBI
CeleraX57,049,741 - 57,083,840 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,285,660 - 50,319,741 (-)NCBIHuRef
CHM1_1X53,210,762 - 53,244,827 (-)NCBICHM1_1
Kdm5c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X151,015,698 - 151,062,098 (+)NCBIGRCm39mm39
GRCm39 EnsemblX151,016,016 - 151,057,531 (+)Ensembl
GRCm38X152,233,198 - 152,279,102 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX152,233,020 - 152,274,535 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X148,667,773 - 148,708,897 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X147,573,988 - 147,614,512 (+)NCBImm8
MGSCv36X129,241,757 - 129,282,281 (+)NCBImm8
Cytogenetic MapXF3NCBI
cM MapX68.46NCBI
Kdm5c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X21,345,459 - 21,387,045 (+)NCBI
Rnor_6.0 EnsemblX22,302,485 - 22,348,627 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X22,302,664 - 22,349,298 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X64,226,119 - 64,277,476 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X41,742,803 - 41,779,479 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX21,607,558 - 21,644,634 (+)NCBICelera
Cytogenetic MapXq13NCBI
Kdm5c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955475243,666 - 278,627 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955475243,666 - 278,064 (-)NCBIChiLan1.0ChiLan1.0
KDM5C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X53,486,874 - 53,548,785 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX53,515,886 - 53,548,785 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X45,377,609 - 45,440,025 (-)NCBIMhudiblu_PPA_v0panPan3
KDM5C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X44,921,271 - 44,953,338 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX44,921,816 - 44,952,616 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX36,478,724 - 36,508,722 (-)NCBI
ROS_Cfam_1.0X45,270,006 - 45,300,013 (-)NCBI
UMICH_Zoey_3.1X44,765,224 - 44,795,215 (-)NCBI
UNSW_CanFamBas_1.0X45,214,884 - 45,244,860 (-)NCBI
UU_Cfam_GSD_1.0X45,282,205 - 45,312,192 (-)NCBI
Kdm5c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X37,818,558 - 37,864,411 (-)NCBI
SpeTri2.0NW_004936751159,628 - 204,136 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KDM5C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX45,968,814 - 46,003,215 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X45,968,812 - 46,003,215 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X51,468,791 - 51,503,194 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KDM5C
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X49,306,472 - 49,356,151 (-)NCBI
ChlSab1.1 EnsemblX49,321,173 - 49,356,100 (-)Ensembl
Kdm5c
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624909421,033 - 455,201 (-)NCBI

Position Markers
A009X24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,235,332 - 53,235,534UniSTSGRCh37
Build 36X53,252,057 - 53,252,259RGDNCBI36
CeleraX57,064,571 - 57,064,773RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,300,096 - 50,300,298UniSTS
GeneMap99-GB4 RH MapX164.12UniSTS
RH81091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,221,395 - 53,221,576UniSTSGRCh37
Build 36X53,238,120 - 53,238,301RGDNCBI36
CeleraX57,050,634 - 57,050,815RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,286,553 - 50,286,734UniSTS
GeneMap99-GB4 RH MapX166.68UniSTS
RH93069  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,220,785 - 53,220,910UniSTSGRCh37
Build 36X53,237,510 - 53,237,635RGDNCBI36
CeleraX57,050,023 - 57,050,148RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,285,942 - 50,286,067UniSTS
GeneMap99-GB4 RH MapX161.21UniSTS
RH80792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,221,919 - 53,222,143UniSTSGRCh37
Build 36X53,238,644 - 53,238,868RGDNCBI36
CeleraX57,051,158 - 57,051,382RGD
Cytogenetic MapXp11.22-p11.21UniSTS
GeneMap99-GB4 RH MapX166.03UniSTS
G42695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,230,809 - 53,230,882UniSTSGRCh37
Build 36X53,247,534 - 53,247,607RGDNCBI36
CeleraX57,060,048 - 57,060,121RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,295,584 - 50,295,657UniSTS
PMC24149P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,254,375 - 53,254,604UniSTSGRCh37
Build 36X53,271,100 - 53,271,329RGDNCBI36
CeleraX57,083,611 - 57,083,840RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,319,512 - 50,319,741UniSTS
PMC311008P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,221,544 - 53,221,740UniSTSGRCh37
Build 36X53,238,269 - 53,238,465RGDNCBI36
CeleraX57,050,783 - 57,050,979RGD
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,286,702 - 50,286,898UniSTS
G32947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,235,332 - 53,235,534UniSTSGRCh37
CeleraX57,064,571 - 57,064,773UniSTS
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,300,096 - 50,300,298UniSTS
DXS1272E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,243,960 - 53,245,097UniSTSGRCh37
CeleraX57,073,196 - 57,074,333UniSTS
Cytogenetic MapXp11.22-p11.21UniSTS
HuRefX50,309,086 - 50,310,223UniSTS
Smcx  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,243,940 - 53,245,123UniSTSGRCh37
CeleraX57,073,176 - 57,074,359UniSTS
HuRefX50,309,066 - 50,310,249UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5372
Count of miRNA genes:1318
Interacting mature miRNAs:1716
Transcripts:ENST00000349663, ENST00000375379, ENST00000375383, ENST00000375401, ENST00000404049, ENST00000428012, ENST00000429877, ENST00000452825, ENST00000465402, ENST00000467093, ENST00000477109, ENST00000481369, ENST00000495519, ENST00000497100, ENST00000497995
Prediction methods:Microtar, Miranda, Pita, 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 2433 2680 1599 500 1873 341 4344 1987 3120 374 1458 1608 175 1 1203 2776 6 2
Low 6 311 127 124 78 124 13 209 614 44 2 5 1 12
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI221739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI711169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB229140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF613277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM758189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT313966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z29650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000349663   ⟹   ENSP00000344004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,221,705 - 53,225,198 (-)Ensembl
RefSeq Acc Id: ENST00000375379   ⟹   ENSP00000364528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,192,929 - 53,225,422 (-)Ensembl
RefSeq Acc Id: ENST00000375383   ⟹   ENSP00000364532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,192,929 - 53,225,422 (-)Ensembl
RefSeq Acc Id: ENST00000375401   ⟹   ENSP00000364550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,192,158 - 53,225,207 (-)Ensembl
RefSeq Acc Id: ENST00000404049   ⟹   ENSP00000385394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,192,257 - 53,225,176 (-)Ensembl
RefSeq Acc Id: ENST00000428012   ⟹   ENSP00000407277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,218,315 - 53,225,194 (-)Ensembl
RefSeq Acc Id: ENST00000429877   ⟹   ENSP00000409757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,217,810 - 53,225,208 (-)Ensembl
RefSeq Acc Id: ENST00000452825   ⟹   ENSP00000445176
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,191,321 - 53,225,422 (-)Ensembl
RefSeq Acc Id: ENST00000465402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,201,279 - 53,210,547 (-)Ensembl
RefSeq Acc Id: ENST00000467093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,217,853 - 53,221,818 (-)Ensembl
RefSeq Acc Id: ENST00000477109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,197,657 - 53,198,566 (-)Ensembl
RefSeq Acc Id: ENST00000481369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,201,304 - 53,202,773 (-)Ensembl
RefSeq Acc Id: ENST00000495519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,217,829 - 53,218,737 (-)Ensembl
RefSeq Acc Id: ENST00000497100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,198,490 - 53,211,658 (-)Ensembl
RefSeq Acc Id: ENST00000497995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,215,714 - 53,217,149 (-)Ensembl
RefSeq Acc Id: NM_001146702   ⟹   NP_001140174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,192,158 - 53,225,207 (-)NCBI
GRCh37X53,220,503 - 53,254,604 (-)ENTREZGENE
HuRefX50,285,660 - 50,319,741 (-)ENTREZGENE
CHM1_1X53,210,762 - 53,244,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282622   ⟹   NP_001269551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,192,158 - 53,225,207 (-)NCBI
HuRefX50,285,660 - 50,319,741 (-)NCBI
CHM1_1X53,210,762 - 53,244,827 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353978   ⟹   NP_001340907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,192,158 - 53,225,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353979   ⟹   NP_001340908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,176,277 - 53,225,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353981   ⟹   NP_001340910
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,176,277 - 53,225,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353982   ⟹   NP_001340911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,176,277 - 53,225,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001353984   ⟹   NP_001340913
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,191,321 - 53,225,207 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004187   ⟹   NP_004178
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,192,158 - 53,225,207 (-)NCBI
GRCh37X53,220,503 - 53,254,604 (-)ENTREZGENE
Build 36X53,237,378 - 53,271,329 (-)NCBI Archive
HuRefX50,285,660 - 50,319,741 (-)ENTREZGENE
CHM1_1X53,210,762 - 53,244,827 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148672
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,176,277 - 53,225,207 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148673
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,176,277 - 53,225,207 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148674
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,176,277 - 53,225,207 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001140174   ⟸   NM_001146702
- Peptide Label: isoform 2
- UniProtKB: P41229 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004178   ⟸   NM_004187
- Peptide Label: isoform 1
- UniProtKB: P41229 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269551   ⟸   NM_001282622
- Peptide Label: isoform 3
- UniProtKB: P41229 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001340911   ⟸   NM_001353982
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001340908   ⟸   NM_001353979
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001340910   ⟸   NM_001353981
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001340913   ⟸   NM_001353984
- Peptide Label: isoform 8
- Sequence:
RefSeq Acc Id: NP_001340907   ⟸   NM_001353978
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000445176   ⟸   ENST00000452825
RefSeq Acc Id: ENSP00000344004   ⟸   ENST00000349663
RefSeq Acc Id: ENSP00000407277   ⟸   ENST00000428012
RefSeq Acc Id: ENSP00000364528   ⟸   ENST00000375379
RefSeq Acc Id: ENSP00000364532   ⟸   ENST00000375383
RefSeq Acc Id: ENSP00000364550   ⟸   ENST00000375401
RefSeq Acc Id: ENSP00000409757   ⟸   ENST00000429877
RefSeq Acc Id: ENSP00000385394   ⟸   ENST00000404049
Protein Domains
ARID   JmjC   JmjN

Promoters
RGD ID:13605364
Promoter ID:EPDNEW_H28867
Type:initiation region
Name:KDM5C_1
Description:lysine demethylase 5C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,225,207 - 53,225,267EPDNEW
RGD ID:6813805
Promoter ID:HG_ACW:83964
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:JARID1C.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,240,656 - 53,241,507 (-)MPROMDB
RGD ID:6813809
Promoter ID:HG_ACW:83965
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:JARID1C.CAPR07,   JARID1C.OAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,241,956 - 53,242,456 (-)MPROMDB
RGD ID:6808966
Promoter ID:HG_KWN:66906
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056733
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,244,056 - 53,245,407 (-)MPROMDB
RGD ID:6808971
Promoter ID:HG_KWN:66907
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000318612
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,247,641 - 53,248,141 (-)MPROMDB
RGD ID:6808969
Promoter ID:HG_KWN:66908
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056736
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,256,191 - 53,257,237 (-)MPROMDB
RGD ID:6808970
Promoter ID:HG_KWN:66909
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056740
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,257,461 - 53,257,961 (-)MPROMDB
RGD ID:6808975
Promoter ID:HG_KWN:66911
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000318616
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,263,166 - 53,263,692 (-)MPROMDB
RGD ID:6808967
Promoter ID:HG_KWN:66912
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056734
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,264,966 - 53,265,466 (-)MPROMDB
RGD ID:6808968
Promoter ID:HG_KWN:66913
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056735
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,267,386 - 53,268,587 (-)MPROMDB
RGD ID:6808972
Promoter ID:HG_KWN:66914
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000349663,   ENST00000375379,   ENST00000375383,   NM_001146702,   NM_004187,   OTTHUMT00000318613,   OTTHUMT00000318614,   OTTHUMT00000318615,   UC004DSA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,270,996 - 53,272,137 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004187.4(KDM5C):c.2982-1G>C single nucleotide variant not provided [RCV000521999] ChrX:53196055 [GRCh38]
ChrX:53225237 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.3635G>A (p.Arg1212Gln) single nucleotide variant not provided [RCV000520605] ChrX:53194542 [GRCh38]
ChrX:53223724 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000022890] ChrX:53199048 [GRCh38]
ChrX:53228230 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) single nucleotide variant Inborn genetic diseases [RCV001267535]|Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000022891] ChrX:53210500 [GRCh38]
ChrX:53239682 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000010426] ChrX:53199029 [GRCh38]
ChrX:53228211 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) duplication Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000010427] ChrX:53220864..53220865 [GRCh38]
ChrX:53250046..53250047 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) single nucleotide variant Inborn genetic diseases [RCV000623976]|Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000010428] ChrX:53211867 [GRCh38]
ChrX:53241049 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000010429] ChrX:53199140 [GRCh38]
ChrX:53228322 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000010430] ChrX:53211545 [GRCh38]
ChrX:53240727 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000010431] ChrX:53198836 [GRCh38]
ChrX:53228018 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000010432] ChrX:53218398 [GRCh38]
ChrX:53247580 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000723335] ChrX:53199106 [GRCh38]
ChrX:53228288 [GRCh37]
ChrX:Xp11.22
uncertain significance
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 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 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
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 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: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: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 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
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 Xp22.33-11.21(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-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: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
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
NM_004187.3(KDM5C):c.2419C>T (p.Pro807Ser) single nucleotide variant Malignant melanoma [RCV000073218] ChrX:53198587 [GRCh38]
ChrX:53227769 [GRCh37]
ChrX:53244494 [NCBI36]
ChrX:Xp11.22
not provided
NM_004187.3(KDM5C):c.127A>G (p.Ile43Val) single nucleotide variant Malignant melanoma [RCV000073219] ChrX:53224763 [GRCh38]
ChrX:53253945 [GRCh37]
ChrX:53270670 [NCBI36]
ChrX:Xp11.22
not provided
NM_004187.3(KDM5C):c.56C>G (p.Pro19Arg) single nucleotide variant Malignant melanoma [RCV000073220] ChrX:53224834 [GRCh38]
ChrX:53254016 [GRCh37]
ChrX:53270741 [NCBI36]
ChrX:Xp11.22
not provided
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) single nucleotide variant History of neurodevelopmental disorder [RCV000717697]|Spastic paraplegia [RCV001086548]|not provided [RCV000723741]|not specified [RCV000192004] ChrX:53201926 [GRCh38]
ChrX:53231108 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004187.4(KDM5C):c.2243+11G>T single nucleotide variant not specified [RCV000080872] ChrX:53198966 [GRCh38]
ChrX:53228148 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.3:c.2517-7_2517-6insACT insertion not provided [RCV000080873] ChrX:53197882..53197883 [GRCh38]
ChrX:53227064..53227065 [GRCh37]
ChrX:Xp11.22
not provided
NM_004187.4(KDM5C):c.2517-9_2517-7dup duplication Spastic paraplegia [RCV000229405]|not specified [RCV000080874] ChrX:53197882..53197883 [GRCh38]
ChrX:53227064..53227065 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_004187.5(KDM5C):c.2662C>T (p.Arg888Cys) single nucleotide variant not specified [RCV000080875] ChrX:53197005 [GRCh38]
ChrX:53226187 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance|not provided
NM_004187.3(KDM5C):c.3300+8C>T single nucleotide variant not provided [RCV000080876] ChrX:53195223 [GRCh38]
ChrX:53224405 [GRCh37]
ChrX:Xp11.22
not provided
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) single nucleotide variant History of neurodevelopmental disorder [RCV000719544]|not provided [RCV000080877] ChrX:53194988 [GRCh38]
ChrX:53224170 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) single nucleotide variant Spastic paraplegia [RCV000861325]|not specified [RCV000080878] ChrX:53194187 [GRCh38]
ChrX:53223369 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
NM_004187.4(KDM5C):c.4637G>A (p.Arg1546Gln) single nucleotide variant Spastic paraplegia [RCV001089154]|not provided [RCV000633071]|not specified [RCV000080879] ChrX:53193013 [GRCh38]
ChrX:53222195 [GRCh37]
ChrX:Xp11.22
benign|likely benign|uncertain significance
NM_004187.3(KDM5C):c.4668T>C (p.Pro1556=) single nucleotide variant not provided [RCV000080880] ChrX:53192982 [GRCh38]
ChrX:53222164 [GRCh37]
ChrX:Xp11.22
not provided
NM_001146702.1(KDM5C):c.4047-139A>G single nucleotide variant not provided [RCV000080881] ChrX:53192976 [GRCh38]
ChrX:53222158 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) single nucleotide variant History of neurodevelopmental disorder [RCV000715694]|Spastic paraplegia [RCV000456337]|not specified [RCV000080882] ChrX:53217236 [GRCh38]
ChrX:53246418 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.2987A>G (p.Lys996Arg) single nucleotide variant not provided [RCV000117379] ChrX:53196049 [GRCh38]
ChrX:53225231 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) single nucleotide variant History of neurodevelopmental disorder [RCV000716722]|Spastic paraplegia [RCV000862408]|not specified [RCV000117380] ChrX:53211793 [GRCh38]
ChrX:53240975 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000117381] ChrX:53210547 [GRCh38]
ChrX:53239729 [GRCh37]
ChrX:Xp11.22
likely pathogenic|uncertain significance
NM_004187.5(KDM5C):c.1884G>A (p.Gln628=) single nucleotide variant Spastic paraplegia [RCV000633093]|not specified [RCV000117382] ChrX:53201727 [GRCh38]
ChrX:53230909 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.4231G>A (p.Val1411Met) single nucleotide variant not provided [RCV000122516] ChrX:53193523 [GRCh38]
ChrX:53222705 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NM_004187.5(KDM5C):c.3126_3128delinsCAGG (p.Asp1043fs) indel not provided [RCV000176207] ChrX:53195403..53195405 [GRCh38]
ChrX:53224585..53224587 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.486T>A (p.Tyr162Ter) single nucleotide variant not provided [RCV000178206] ChrX:53217832 [GRCh38]
ChrX:53247014 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.4(KDM5C):c.351+1G>T single nucleotide variant not provided [RCV000177191] ChrX:53218275 [GRCh38]
ChrX:53247457 [GRCh37]
ChrX:Xp11.22
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-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: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: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-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 Xp22.33-11.21(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 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-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
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 Xp22.31-11.22(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 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 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: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: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-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 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 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-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: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-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 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 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 Xp11.22(chrX:52975325-53610511)x3 copy number gain See cases [RCV000138363] ChrX:52975325..53610511 [GRCh38]
ChrX:53004505..53637472 [GRCh37]
ChrX:53021230..53654197 [NCBI36]
ChrX:Xp11.22
uncertain significance
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 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 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 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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
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 Xp11.22-11.1(chrX:51654792-58469500)x1 copy number loss See cases [RCV000142036] ChrX:51654792..58469500 [GRCh38]
ChrX:51397726..58495933 [GRCh37]
ChrX:51414466..58512658 [NCBI36]
ChrX:Xp11.22-11.1
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 Xp11.22-q11.2(chrX:52809123-65305544)x3 copy number gain See cases [RCV000142756] ChrX:52809123..65305544 [GRCh38]
ChrX:52838147..64525424 [GRCh37]
ChrX:52854872..64442149 [NCBI36]
ChrX:Xp11.22-q11.2
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-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 Xp22.33-11.21(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 Xp11.22(chrX:51707794-53229764)x0 copy number loss See cases [RCV000143765] ChrX:51707794..53229764 [GRCh38]
ChrX:51450890..53258946 [GRCh37]
ChrX:51467630..53275671 [NCBI36]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) single nucleotide variant History of neurodevelopmental disorder [RCV000716320]|Spastic paraplegia [RCV000231438]|not specified [RCV000153020] ChrX:53201956 [GRCh38]
ChrX:53231138 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
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
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
NM_004187.5(KDM5C):c.25C>T (p.Leu9=) single nucleotide variant not provided [RCV000153021] ChrX:53224865 [GRCh38]
ChrX:53254047 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) single nucleotide variant History of neurodevelopmental disorder [RCV000718014]|Spastic paraplegia [RCV000865594]|not specified [RCV000194125] ChrX:53217264 [GRCh38]
ChrX:53246446 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004187.5(KDM5C):c.2507A>G (p.Gln836Arg) single nucleotide variant not specified [RCV000121277] ChrX:53198499 [GRCh38]
ChrX:53227681 [GRCh37]
ChrX:Xp11.22
not provided
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) single nucleotide variant not provided [RCV000176557] ChrX:53193450 [GRCh38]
ChrX:53222632 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.4(KDM5C):c.4318-15T>G single nucleotide variant not provided [RCV000176667] ChrX:53193347 [GRCh38]
ChrX:53222529 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.4(KDM5C):c.4338C>T (p.His1446=) single nucleotide variant not provided [RCV000176668] ChrX:53193312 [GRCh38]
ChrX:53222494 [GRCh37]
ChrX:Xp11.22
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004187.4(KDM5C):c.4611G>A (p.Ser1537=) single nucleotide variant not specified [RCV000192886] ChrX:53193039 [GRCh38]
ChrX:53222221 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=) single nucleotide variant Spastic paraplegia [RCV000554821]|not specified [RCV000192970] ChrX:53196844 [GRCh38]
ChrX:53226026 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
NM_004187.5(KDM5C):c.3551C>T (p.Thr1184Ile) single nucleotide variant not specified [RCV000194688] ChrX:53194626 [GRCh38]
ChrX:53223808 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln) single nucleotide variant not provided [RCV000766908]|not specified [RCV000194743] ChrX:53196941 [GRCh38]
ChrX:53226123 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2705A>G (p.Gln902Arg) single nucleotide variant not specified [RCV000121278] ChrX:53196962 [GRCh38]
ChrX:53226144 [GRCh37]
ChrX:Xp11.22
not provided
NM_004187.5(KDM5C):c.4030A>G (p.Met1344Val) single nucleotide variant not provided [RCV000766707]|not specified [RCV000121279] ChrX:53194147 [GRCh38]
ChrX:53223329 [GRCh37]
ChrX:Xp11.22
uncertain significance|not provided
NM_004187.5(KDM5C):c.738G>C (p.Met246Ile) single nucleotide variant not specified [RCV000121281] ChrX:53216117 [GRCh38]
ChrX:53245299 [GRCh37]
ChrX:Xp11.22
not provided
NM_004187.5(KDM5C):c.2243G>C (p.Arg748Pro) single nucleotide variant not specified [RCV000192383] ChrX:53198977 [GRCh38]
ChrX:53228159 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1495G>A (p.Val499Met) single nucleotide variant not specified [RCV000192464] ChrX:53210764 [GRCh38]
ChrX:53239946 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.4(KDM5C):c.4597A>C (p.Thr1533Pro) single nucleotide variant not provided [RCV000869279]|not specified [RCV000121282] ChrX:53193053 [GRCh38]
ChrX:53222235 [GRCh37]
ChrX:Xp11.22
likely benign|not provided
NM_001146702.1(KDM5C):c.4047-315G>A single nucleotide variant not specified [RCV000121283] ChrX:53193152 [GRCh38]
ChrX:53222334 [GRCh37]
ChrX:Xp11.22
not provided
NM_004187.5(KDM5C):c.608C>T (p.Pro203Leu) single nucleotide variant not specified [RCV000194954] ChrX:53217192 [GRCh38]
ChrX:53246374 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000193813] ChrX:53195918 [GRCh38]
ChrX:53225100 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.3880C>T (p.Gln1294Ter) single nucleotide variant not provided [RCV000255300] ChrX:53194297 [GRCh38]
ChrX:53223479 [GRCh37]
ChrX:Xp11.22
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_001353979.2(KDM5C):c.4314+602C>G single nucleotide variant not specified [RCV000121280] ChrX:53192835 [GRCh38]
ChrX:53222017 [GRCh37]
ChrX:Xp11.22
not provided
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
NM_004187.5(KDM5C):c.1050C>T (p.His350=) single nucleotide variant History of neurodevelopmental disorder [RCV000716391] ChrX:53214761 [GRCh38]
ChrX:53243943 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000677733] ChrX:53201925 [GRCh38]
ChrX:53231107 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.1296dup (p.Glu433Ter) duplication Intellectual disability [RCV000224502] ChrX:53211601..53211602 [GRCh38]
ChrX:53240783..53240784 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2152G>C (p.Ala718Pro) single nucleotide variant Intellectual disability [RCV000224884] ChrX:53199068 [GRCh38]
ChrX:53228250 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000717975]|Spastic paraplegia [RCV000862765]|not specified [RCV000239290] ChrX:53193451 [GRCh38]
ChrX:53222633 [GRCh37]
ChrX:Xp11.22
benign
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2 copy number gain See cases [RCV000239889] ChrX:53085607..67176333 [GRCh37]
ChrX:Xp11.22-q12
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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
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
NM_004187.5(KDM5C):c.145C>T (p.Pro49Ser) single nucleotide variant not provided [RCV000522274] ChrX:53224745 [GRCh38]
ChrX:53253927 [GRCh37]
ChrX:Xp11.22
uncertain significance
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 Xp11.22-11.21(chrX:53220822-58066465)x3 copy number gain See cases [RCV000240407] ChrX:53220822..58066465 [GRCh37]
ChrX:Xp11.22-11.21
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_004187.5(KDM5C):c.156G>T (p.Trp52Cys) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000240657] ChrX:53220911 [GRCh38]
ChrX:53250093 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) single nucleotide variant not provided [RCV000377604] ChrX:53217853 [GRCh38]
ChrX:53247035 [GRCh37]
ChrX:Xp11.22
conflicting interpretations of pathogenicity|uncertain significance
NM_004187.5(KDM5C):c.1440G>C (p.Pro480=) single nucleotide variant not provided [RCV000349016] ChrX:53210819 [GRCh38]
ChrX:53240001 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.4(KDM5C):c.1402-2A>G single nucleotide variant not provided [RCV000340061] ChrX:53210859 [GRCh38]
ChrX:53240041 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) single nucleotide variant Spastic paraplegia [RCV000633084]|not specified [RCV000390652] ChrX:53194637 [GRCh38]
ChrX:53223819 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.410_411dup (p.Ala138Ter) duplication not provided [RCV000379085] ChrX:53217906..53217907 [GRCh38]
ChrX:53247088..53247089 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.108C>T (p.Pro36=) single nucleotide variant not provided [RCV000863772]|not specified [RCV000333922] ChrX:53224782 [GRCh38]
ChrX:53253964 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity
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_004187.5(KDM5C):c.1557G>A (p.Trp519Ter) single nucleotide variant not provided [RCV000488942] ChrX:53210702 [GRCh38]
ChrX:53239884 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2319G>A (p.Trp773Ter) single nucleotide variant not provided [RCV000489002] ChrX:53198813 [GRCh38]
ChrX:53227995 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000625767] ChrX:53194735 [GRCh38]
ChrX:53223917 [GRCh37]
ChrX:Xp11.22
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_004187.5(KDM5C):c.2553_2554del (p.Glu852fs) deletion not provided [RCV000598680] ChrX:53197839..53197840 [GRCh38]
ChrX:53227021..53227022 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.1773_1774AG[1] (p.Glu592fs) microsatellite not provided [RCV000598689] ChrX:53201944..53201945 [GRCh38]
ChrX:53231126..53231127 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2375A>C (p.Glu792Ala) single nucleotide variant Spastic paraplegia [RCV001345714]|not specified [RCV000517438] ChrX:53198631 [GRCh38]
ChrX:53227813 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1802dup (p.Tyr601Ter) duplication not provided [RCV000627397] ChrX:53201917..53201918 [GRCh38]
ChrX:53231099..53231100 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000414804]|Spastic paraplegia [RCV000794328]|not provided [RCV000520957] ChrX:53210820 [GRCh38]
ChrX:53240002 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_004187.5(KDM5C):c.2092G>A (p.Glu698Lys) single nucleotide variant Inborn genetic diseases [RCV000624334]|not provided [RCV000413218] ChrX:53199128 [GRCh38]
ChrX:53228310 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.3404dup (p.Ser1136fs) duplication not provided [RCV000413725] ChrX:53194964..53194965 [GRCh38]
ChrX:53224146..53224147 [GRCh37]
ChrX:Xp11.22
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
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
NM_004187.5(KDM5C):c.767_768CT[1] (p.Leu257fs) microsatellite Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000449524] ChrX:53216085..53216086 [GRCh38]
ChrX:53245267..53245268 [GRCh37]
ChrX:Xp11.22
pathogenic
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 Xp22.33-11.21(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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [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-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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004187.4(KDM5C):c.4334G>A (p.Arg1445His) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001329187]|not specified [RCV000441534] ChrX:53193316 [GRCh38]
ChrX:53222498 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004187.5(KDM5C):c.224T>C (p.Leu75Pro) single nucleotide variant not provided [RCV000420674] ChrX:53220843 [GRCh38]
ChrX:53250025 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.3019C>T (p.Arg1007Cys) single nucleotide variant not provided [RCV000443265] ChrX:53196017 [GRCh38]
ChrX:53225199 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2623G>A (p.Gly875Ser) single nucleotide variant not provided [RCV000422953] ChrX:53197044 [GRCh38]
ChrX:53226226 [GRCh37]
ChrX:Xp11.22
uncertain significance
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
NM_004187.4(KDM5C):c.2622+2dup duplication Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000417058] ChrX:53197768..53197769 [GRCh38]
ChrX:53226950..53226951 [GRCh37]
ChrX:Xp11.22
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
NM_004187.5(KDM5C):c.2785C>T (p.Arg929Ter) single nucleotide variant Inborn genetic diseases [RCV000623473]|not provided [RCV000483330] ChrX:53196882 [GRCh38]
ChrX:53226064 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_004187.5(KDM5C):c.1541A>T (p.His514Leu) single nucleotide variant not provided [RCV000486573] ChrX:53210718 [GRCh38]
ChrX:53239900 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met) single nucleotide variant not provided [RCV000480561] ChrX:53199082 [GRCh38]
ChrX:53228264 [GRCh37]
ChrX:Xp11.22
likely pathogenic|conflicting interpretations of pathogenicity
NM_004187.4(KDM5C):c.3300+9T>G single nucleotide variant not specified [RCV000503265] ChrX:53195222 [GRCh38]
ChrX:53224404 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) single nucleotide variant Inborn genetic diseases [RCV000623338]|Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000496186] ChrX:53198524 [GRCh38]
ChrX:53227706 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.4(KDM5C):c.4566C>A (p.Asn1522Lys) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001329820]|not specified [RCV000501834] ChrX:53193084 [GRCh38]
ChrX:53222266 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004187.5(KDM5C):c.89A>G (p.Tyr30Cys) single nucleotide variant not provided [RCV000497698] ChrX:53224801 [GRCh38]
ChrX:53253983 [GRCh37]
ChrX:Xp11.22
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
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg) single nucleotide variant Smith-Magenis Syndrome-like [RCV000491675] ChrX:53195968 [GRCh38]
ChrX:53225150 [GRCh37]
ChrX:Xp11.22
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
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
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter) single nucleotide variant Inborn genetic diseases [RCV000622421]|not provided [RCV000578619] ChrX:53195978 [GRCh38]
ChrX:53225160 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004187.4(KDM5C):c.4572T>G (p.Asn1524Lys) single nucleotide variant not provided [RCV000493324] ChrX:53193078 [GRCh38]
ChrX:53222260 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) deletion Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000495865] ChrX:53194576..53194580 [GRCh38]
ChrX:53223758..53223762 [GRCh37]
ChrX:Xp11.22
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
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000709817]|not provided [RCV000523440] ChrX:53217848 [GRCh38]
ChrX:53247030 [GRCh37]
ChrX:Xp11.22
uncertain significance|not provided
NM_004187.5(KDM5C):c.1025G>T (p.Cys342Phe) single nucleotide variant not provided [RCV000514469] ChrX:53214786 [GRCh38]
ChrX:53243968 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3411G>A (p.Ala1137=) single nucleotide variant not provided [RCV000633082] ChrX:53194958 [GRCh38]
ChrX:53224140 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.2332C>T (p.Arg778Ter) single nucleotide variant not provided [RCV000627289] ChrX:53198800 [GRCh38]
ChrX:53227982 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.4(KDM5C):c.4423G>C (p.Glu1475Gln) single nucleotide variant not provided [RCV000524062] ChrX:53193227 [GRCh38]
ChrX:53222409 [GRCh37]
ChrX:Xp11.22
uncertain significance
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 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_001353979.2(KDM5C):c.4314+668C>A single nucleotide variant not provided [RCV000513590] ChrX:53192769 [GRCh38]
ChrX:53221951 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000623905]|not provided [RCV001091934] ChrX:53217205 [GRCh38]
ChrX:53246387 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter) single nucleotide variant Inborn genetic diseases [RCV000624775] ChrX:53196897 [GRCh38]
ChrX:53226079 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:53094819-53414375)x1 copy number loss not provided [RCV000659190] ChrX:53094819..53414375 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.2165A>G (p.Tyr722Cys) single nucleotide variant History of neurodevelopmental disorder [RCV000715857] ChrX:53199055 [GRCh38]
ChrX:53228237 [GRCh37]
ChrX:Xp11.22
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_004187.5(KDM5C):c.1988C>T (p.Ala663Val) single nucleotide variant History of neurodevelopmental disorder [RCV000716713] ChrX:53201623 [GRCh38]
ChrX:53230805 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_001146702.1(KDM5C):c.4047-250G>T single nucleotide variant Spastic paraplegia [RCV000687378] ChrX:53193087 [GRCh38]
ChrX:53222269 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.4090G>A (p.Ala1364Thr) single nucleotide variant Spastic paraplegia [RCV000702006] ChrX:53193800 [GRCh38]
ChrX:53222982 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1A>G (p.Met1Val) single nucleotide variant Spastic paraplegia [RCV000702291] ChrX:53224889 [GRCh38]
ChrX:53254071 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.3441C>T (p.Ile1147=) single nucleotide variant not provided [RCV000868337]|not specified [RCV000736071] ChrX:53194736 [GRCh38]
ChrX:53223918 [GRCh37]
ChrX:Xp11.22
benign|likely benign
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_004187.5(KDM5C):c.1499C>T (p.Pro500Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000717345] ChrX:53210760 [GRCh38]
ChrX:53239942 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.4(KDM5C):c.4610C>T (p.Ser1537Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000717344] ChrX:53193040 [GRCh38]
ChrX:53222222 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.3648G>C (p.Val1216=) single nucleotide variant History of neurodevelopmental disorder [RCV000717462] ChrX:53194529 [GRCh38]
ChrX:53223711 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.4040T>A (p.Val1347Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000718309] ChrX:53193850 [GRCh38]
ChrX:53223032 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.861G>A (p.Ser287=) single nucleotide variant History of neurodevelopmental disorder [RCV000719227] ChrX:53215897 [GRCh38]
ChrX:53245079 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.3518G>A (p.Ser1173Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000718701] ChrX:53194659 [GRCh38]
ChrX:53223841 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.709C>T (p.Gln237Ter) single nucleotide variant Intellectual disability [RCV001004012] ChrX:53216146 [GRCh38]
ChrX:53245328 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.975T>C (p.Tyr325=) single nucleotide variant History of neurodevelopmental disorder [RCV000718943] ChrX:53214836 [GRCh38]
ChrX:53244018 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.474A>G (p.Glu158=) single nucleotide variant History of neurodevelopmental disorder [RCV000719120] ChrX:53217844 [GRCh38]
ChrX:53247026 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.896G>A (p.Ser299Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000718971]|not provided [RCV000867660] ChrX:53215862 [GRCh38]
ChrX:53245044 [GRCh37]
ChrX:Xp11.22
benign|likely benign
GRCh37/hg19 Xp11.22(chrX:53014126-53234484)x1 copy number loss not provided [RCV000753541] ChrX:53014126..53234484 [GRCh37]
ChrX:Xp11.22
uncertain significance
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)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
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
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)x3 copy number gain not provided [RCV000753272] 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
NM_004187.5(KDM5C):c.1794C>G (p.Pro598=) single nucleotide variant Spastic paraplegia [RCV000861477] ChrX:53201926 [GRCh38]
ChrX:53231108 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.2493A>G (p.Gly831=) single nucleotide variant not provided [RCV000869499] ChrX:53198513 [GRCh38]
ChrX:53227695 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.3439-7A>G single nucleotide variant not provided [RCV000869586] ChrX:53194745 [GRCh38]
ChrX:53223927 [GRCh37]
ChrX:Xp11.22
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000760210] ChrX:53217207 [GRCh38]
ChrX:53246389 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.100del (p.Ile34fs) deletion Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000760231] ChrX:53224790 [GRCh38]
ChrX:53253972 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs) deletion Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000760238] ChrX:53194604..53194607 [GRCh38]
ChrX:53223786..53223789 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2211C>G (p.Leu737=) single nucleotide variant not provided [RCV000762640] ChrX:53199009 [GRCh38]
ChrX:53228191 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.3918A>G (p.Gly1306=) single nucleotide variant not provided [RCV000928736] ChrX:53194259 [GRCh38]
ChrX:53223441 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.381T>C (p.Ala127=) single nucleotide variant not provided [RCV000926415] ChrX:53217937 [GRCh38]
ChrX:53247119 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.2595C>T (p.Cys865=) single nucleotide variant Spastic paraplegia [RCV000865895] ChrX:53197798 [GRCh38]
ChrX:53226980 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.456G>A (p.Leu152=) single nucleotide variant not provided [RCV000944104] ChrX:53217862 [GRCh38]
ChrX:53247044 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) single nucleotide variant Spastic paraplegia [RCV000863535] ChrX:53199108 [GRCh38]
ChrX:53228290 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.2091C>T (p.Phe697=) single nucleotide variant not provided [RCV000950944] ChrX:53199129 [GRCh38]
ChrX:53228311 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.2517-9A>C single nucleotide variant not provided [RCV000982327] ChrX:53197885 [GRCh38]
ChrX:53227067 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001007580] ChrX:53194660 [GRCh38]
ChrX:53223842 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2243+1G>T single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001078174] ChrX:53198976 [GRCh38]
ChrX:53228158 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) duplication Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000824878] ChrX:53217210..53217211 [GRCh38]
ChrX:53246392..53246393 [GRCh37]
ChrX:Xp11.22
likely pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_004187.4(KDM5C):c.1243-2A>G single nucleotide variant not provided [RCV000782007] ChrX:53211657 [GRCh38]
ChrX:53240839 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.807C>T (p.Pro269=) single nucleotide variant not provided [RCV000876556] ChrX:53215951 [GRCh38]
ChrX:53245133 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.1749T>G (p.Val583=) single nucleotide variant not provided [RCV000870118] ChrX:53201971 [GRCh38]
ChrX:53231153 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.4190C>T (p.Ala1397Val) single nucleotide variant not provided [RCV000946143] ChrX:53193564 [GRCh38]
ChrX:53222746 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.1734C>T (p.Ser578=) single nucleotide variant not provided [RCV000867884] ChrX:53210426 [GRCh38]
ChrX:53239608 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser) single nucleotide variant Spastic paraplegia [RCV000860934] ChrX:53194399 [GRCh38]
ChrX:53223581 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.3295C>T (p.Leu1099=) single nucleotide variant Spastic paraplegia [RCV000865225] ChrX:53195236 [GRCh38]
ChrX:53224418 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.459A>G (p.Leu153=) single nucleotide variant not provided [RCV000866509] ChrX:53217859 [GRCh38]
ChrX:53247041 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.2503G>A (p.Gly835Ser) single nucleotide variant not provided [RCV000952276] ChrX:53198503 [GRCh38]
ChrX:53227685 [GRCh37]
ChrX:Xp11.22
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_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000824879] ChrX:53201854 [GRCh38]
ChrX:53231036 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_001146702.1(KDM5C):c.4047-1C>T single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000791183] ChrX:53192838 [GRCh38]
ChrX:53222020 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3716A>G (p.Asp1239Gly) single nucleotide variant Spastic paraplegia [RCV000795062] ChrX:53194461 [GRCh38]
ChrX:53223643 [GRCh37]
ChrX:Xp11.22
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_004187.4(KDM5C):c.1747G>T (p.Val583Phe) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000851518] ChrX:53201973 [GRCh38]
ChrX:53231155 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.4(KDM5C):c.4517G>A (p.Gly1506Asp) single nucleotide variant Spastic paraplegia [RCV000814913] ChrX:53193133 [GRCh38]
ChrX:53222315 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.418C>T (p.Arg140Cys) single nucleotide variant not provided [RCV000999444] ChrX:53217900 [GRCh38]
ChrX:53247082 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.807del (p.Thr270fs) deletion Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV000785977] ChrX:53215951 [GRCh38]
ChrX:53245133 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
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_004187.4(KDM5C):c.4394G>A (p.Arg1465Gln) single nucleotide variant Spastic paraplegia [RCV000811003] ChrX:53193256 [GRCh38]
ChrX:53222438 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1644G>A (p.Val548=) single nucleotide variant not provided [RCV000871328] ChrX:53210516 [GRCh38]
ChrX:53239698 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.2721G>A (p.Arg907=) single nucleotide variant not provided [RCV000871560] ChrX:53196946 [GRCh38]
ChrX:53226128 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.*130C>G single nucleotide variant not provided [RCV000999440] ChrX:53192837 [GRCh38]
ChrX:53222019 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3988G>A (p.Ala1330Thr) single nucleotide variant not provided [RCV000999441] ChrX:53194189 [GRCh38]
ChrX:53223371 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1902C>A (p.Arg634=) single nucleotide variant not provided [RCV000999443] ChrX:53201709 [GRCh38]
ChrX:53230891 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001004874] ChrX:53218372 [GRCh38]
ChrX:53247554 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001249624] ChrX:53194282 [GRCh38]
ChrX:53223464 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu) single nucleotide variant Spastic paraplegia [RCV001215966] ChrX:53215898 [GRCh38]
ChrX:53245080 [GRCh37]
ChrX:Xp11.22
uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004187.5(KDM5C):c.3174C>G (p.Gly1058=) single nucleotide variant not provided [RCV000999442] ChrX:53195357 [GRCh38]
ChrX:53224539 [GRCh37]
ChrX:Xp11.22
likely benign|uncertain significance
NM_004187.5(KDM5C):c.157C>T (p.Gln53Ter) single nucleotide variant not provided [RCV001008013] ChrX:53220910 [GRCh38]
ChrX:53250092 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001249227] ChrX:53193468 [GRCh38]
ChrX:53222650 [GRCh37]
ChrX:Xp11.22
not provided
NM_004187.5(KDM5C):c.1501del (p.Trp501fs) deletion not provided [RCV001008433] ChrX:53210758 [GRCh38]
ChrX:53239940 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.3390_3391AG[1] (p.Glu1131fs) microsatellite Rare genetic intellectual disability [RCV001256997]|not provided [RCV001008883] ChrX:53194976..53194977 [GRCh38]
ChrX:53224158..53224159 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001095789] ChrX:53211544 [GRCh38]
ChrX:53240726 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.954T>C (p.Asn318=) single nucleotide variant Spastic paraplegia [RCV000918502] ChrX:53215804 [GRCh38]
ChrX:53244986 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.523-3C>T single nucleotide variant Spastic paraplegia [RCV000862641] ChrX:53217280 [GRCh38]
ChrX:53246462 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter) single nucleotide variant Multiple myeloma [RCV000984096] ChrX:53224823 [GRCh38]
ChrX:53254005 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.3276A>G (p.Lys1092=) single nucleotide variant Spastic paraplegia [RCV000975498] ChrX:53195255 [GRCh38]
ChrX:53224437 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.1827C>T (p.Tyr609=) single nucleotide variant not provided [RCV000927100] ChrX:53201893 [GRCh38]
ChrX:53231075 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.1203C>T (p.Ala401=) single nucleotide variant not provided [RCV000920867] ChrX:53211826 [GRCh38]
ChrX:53241008 [GRCh37]
ChrX:Xp11.22
benign
NM_004187.5(KDM5C):c.2745G>A (p.Val915=) single nucleotide variant not provided [RCV000935671] ChrX:53196922 [GRCh38]
ChrX:53226104 [GRCh37]
ChrX:Xp11.22
likely benign
GRCh37/hg19 Xp11.22(chrX:53253922-53254071)x0 copy number loss not provided [RCV001172219] ChrX:53253922..53254071 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.4133C>T (p.Ser1378Phe) single nucleotide variant not provided [RCV001172008] ChrX:53193621 [GRCh38]
ChrX:53222803 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.4352G>A (p.Arg1451Gln) single nucleotide variant not provided [RCV001200497] ChrX:53193298 [GRCh38]
ChrX:53222480 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3668C>T (p.Pro1223Leu) single nucleotide variant Spastic paraplegia [RCV001300151]|not provided [RCV001172009] ChrX:53194509 [GRCh38]
ChrX:53223691 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2329G>C (p.Val777Leu) single nucleotide variant Seizures [RCV001254975] ChrX:53198803 [GRCh38]
ChrX:53227985 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.4406G>T (p.Gly1469Val) single nucleotide variant Inborn genetic diseases [RCV001266798]|Spastic paraplegia [RCV001323563] ChrX:53193244 [GRCh38]
ChrX:53222426 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3299A>G (p.Glu1100Gly) single nucleotide variant Intellectual disability [RCV001257748] ChrX:53195232 [GRCh38]
ChrX:53224414 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1786A>C (p.Thr596Pro) single nucleotide variant Intellectual disability [RCV001257750] ChrX:53201934 [GRCh38]
ChrX:53231116 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2575C>T (p.Gln859Ter) single nucleotide variant Inborn genetic diseases [RCV001267219] ChrX:53197818 [GRCh38]
ChrX:53227000 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2381_2382del (p.Leu794fs) deletion Intellectual disability [RCV001257746] ChrX:53198624..53198625 [GRCh38]
ChrX:53227806..53227807 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001262169] ChrX:53217843 [GRCh38]
ChrX:53247025 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1583+5G>T single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001260563] ChrX:53210671 [GRCh38]
ChrX:53239853 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001262396] ChrX:53194957 [GRCh38]
ChrX:53224139 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.150+1G>T single nucleotide variant not provided [RCV001268475] ChrX:53224739 [GRCh38]
ChrX:53253921 [GRCh37]
ChrX:Xp11.22
likely pathogenic
NM_004187.5(KDM5C):c.149_150dup (p.Asp51fs) microsatellite not provided [RCV001268747] ChrX:53224739..53224740 [GRCh38]
ChrX:53253921..53253922 [GRCh37]
ChrX:Xp11.22
pathogenic
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
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val) single nucleotide variant Inborn genetic diseases [RCV001267536] ChrX:53218358 [GRCh38]
ChrX:53247540 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3755G>A (p.Arg1252His) single nucleotide variant Inborn genetic diseases [RCV001266316] ChrX:53194422 [GRCh38]
ChrX:53223604 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.47T>G (p.Val16Gly) single nucleotide variant Intellectual disability [RCV001257747] ChrX:53224843 [GRCh38]
ChrX:53254025 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1464C>A (p.Cys488Ter) single nucleotide variant Intellectual disability [RCV001257749] ChrX:53210795 [GRCh38]
ChrX:53239977 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg) single nucleotide variant Intellectual disability [RCV001257751] ChrX:53210554 [GRCh38]
ChrX:53239736 [GRCh37]
ChrX:Xp11.22
likely pathogenic
GRCh37/hg19 Xp11.22(chrX:53188785-54049698)x3 copy number gain not provided [RCV001258795] ChrX:53188785..54049698 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:53188785-53934760)x2 copy number gain not provided [RCV001258794] ChrX:53188785..53934760 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) deletion Hirsutism [RCV001261287] ChrX:53195034..53195037 [GRCh38]
ChrX:53224216..53224219 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.862C>G (p.Pro288Ala) single nucleotide variant Spastic paraplegia [RCV001312718] ChrX:53215896 [GRCh38]
ChrX:53245078 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.1953G>A (p.Met651Ile) single nucleotide variant Spastic paraplegia [RCV001306650] ChrX:53201658 [GRCh38]
ChrX:53230840 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2663G>T (p.Arg888Leu) single nucleotide variant not specified [RCV001280677] ChrX:53197004 [GRCh38]
ChrX:53226186 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001329821] ChrX:53215865 [GRCh38]
ChrX:53245047 [GRCh37]
ChrX:Xp11.22
uncertain significance
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_004187.5(KDM5C):c.936A>G (p.Leu312=) single nucleotide variant not provided [RCV001311387] ChrX:53215822 [GRCh38]
ChrX:53245004 [GRCh37]
ChrX:Xp11.22
likely benign
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) single nucleotide variant not provided [RCV001280740] ChrX:53201570 [GRCh38]
ChrX:53230752 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln) single nucleotide variant Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001329186] ChrX:53196899 [GRCh38]
ChrX:53226081 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.2155C>G (p.Leu719Val) single nucleotide variant Spastic paraplegia [RCV001340405] ChrX:53199065 [GRCh38]
ChrX:53228247 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs) duplication Mental retardation, syndromic, Claes-Jensen type, X-linked [RCV001336648] ChrX:53195286..53195287 [GRCh38]
ChrX:53224468..53224469 [GRCh37]
ChrX:Xp11.22
pathogenic
GRCh37/hg19 Xp11.22(chrX:52923471-53765589)x2 copy number gain Intellectual disability [RCV001270430] ChrX:52923471..53765589 [GRCh37]
ChrX:Xp11.22
pathogenic
NM_004187.5(KDM5C):c.2771A>G (p.Gln924Arg) single nucleotide variant not provided [RCV001311386] ChrX:53196896 [GRCh38]
ChrX:53226078 [GRCh37]
ChrX:Xp11.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11114 AgrOrtholog
COSMIC KDM5C COSMIC
Ensembl Genes ENSG00000126012 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344004 UniProtKB/TrEMBL
  ENSP00000364528 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000364532 UniProtKB/Swiss-Prot
  ENSP00000364550 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385394 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407277 UniProtKB/TrEMBL
  ENSP00000409757 UniProtKB/TrEMBL
  ENSP00000445176 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000349663 UniProtKB/TrEMBL
  ENST00000375379 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000375383 UniProtKB/Swiss-Prot
  ENST00000375401 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000404049 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428012 UniProtKB/TrEMBL
  ENST00000429877 UniProtKB/TrEMBL
  ENST00000452825 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126012 GTEx
HGNC ID HGNC:11114 ENTREZGENE
Human Proteome Map KDM5C Human Proteome Map
InterPro ARID_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARID_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lys_sp_deMease-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zinc_finger_PHD-type_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C5HC2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PHD-finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8242 UniProtKB/Swiss-Prot
NCBI Gene 8242 ENTREZGENE
OMIM 300534 OMIM
  314690 OMIM
Pfam ARID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLU-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C5HC2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35964 PharmGKB
PROSITE ARID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JMJC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JMJN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_PHD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRIGHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  JmjN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46774 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6M4C8G8_HUMAN UniProtKB/TrEMBL
  F8W7H7_HUMAN UniProtKB/TrEMBL
  F8WDK1_HUMAN UniProtKB/TrEMBL
  F8WF56_HUMAN UniProtKB/TrEMBL
  KDM5C_HUMAN UniProtKB/Swiss-Prot
  L8E945_HUMAN UniProtKB/TrEMBL
  P41229 ENTREZGENE
UniProt Secondary B0QZ44 UniProtKB/Swiss-Prot
  B4E3I2 UniProtKB/Swiss-Prot
  F5H3T1 UniProtKB/Swiss-Prot
  Q5JUX3 UniProtKB/Swiss-Prot
  Q5JUX4 UniProtKB/Swiss-Prot
  Q5JUX5 UniProtKB/Swiss-Prot
  Q7Z5S5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 KDM5C  lysine demethylase 5C  MRX13  mental retardation, X-linked 13  Data Merged 737654 PROVISIONAL
2016-02-16 KDM5C  lysine demethylase 5C    lysine (K)-specific demethylase 5C  Symbol and/or name change 5135510 APPROVED
2011-08-17 KDM5C  lysine (K)-specific demethylase 5C  KDM5C  lysine (K)-specific demethylase 5C  Symbol and/or name change 5135510 APPROVED