PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) - Rat Genome Database

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Gene: PLEKHG5 (pleckstrin homology and RhoGEF domain containing G5) Homo sapiens
Analyze
Symbol: PLEKHG5
Name: pleckstrin homology and RhoGEF domain containing G5
RGD ID: 1603206
HGNC Page HGNC
Description: Predicted to have guanyl-nucleotide exchange factor activity. Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Predicted to localize to several cellular components, including cell-cell junction; endocytic vesicle; and lamellipodium. Implicated in Charcot-Marie-Tooth disease recessive intermediate C and distal spinal muscular atrophy type 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMTRIC; DSMA4; GEF720; guanine nucleotide exchange factor 720; KIAA0720; NFkB activating protein; novel PH domain-containing protein; PH domain-containing family G member 5; pleckstrin homology domain containing family G member 5; pleckstrin homology domain containing, family G (with RhoGef domain) member 5; pleckstrin homology domain-containing family G member 5; RP4-650H14.3; synectin-binding guanine exchange factor; Syx; Tech
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 Ensembl16,466,092 - 6,520,061 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl16,467,122 - 6,520,074 (-)EnsemblGRCh38hg38GRCh38
GRCh3816,466,092 - 6,520,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3716,526,152 - 6,580,152 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3616,448,739 - 6,502,656 (-)NCBINCBI36hg18NCBI36
Celera15,640,600 - 5,693,925 (-)NCBI
Cytogenetic Map1p36.31NCBI
HuRef15,673,695 - 5,727,849 (-)NCBIHuRef
CHM1_116,514,665 - 6,568,791 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:8889548   PMID:9872452   PMID:11756498   PMID:12376548   PMID:12477932   PMID:12761501   PMID:12787561   PMID:14702039   PMID:16344560   PMID:17564964   PMID:19305408   PMID:19773279  
PMID:21873635   PMID:22087225   PMID:22807448   PMID:23335514   PMID:23777631   PMID:23844677   PMID:24126053   PMID:28514442   PMID:28986522   PMID:31309383   PMID:31536960   PMID:32296183  


Genomics

Comparative Map Data
PLEKHG5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl16,466,092 - 6,520,061 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl16,467,122 - 6,520,074 (-)EnsemblGRCh38hg38GRCh38
GRCh3816,466,092 - 6,520,092 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3716,526,152 - 6,580,152 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3616,448,739 - 6,502,656 (-)NCBINCBI36hg18NCBI36
Celera15,640,600 - 5,693,925 (-)NCBI
Cytogenetic Map1p36.31NCBI
HuRef15,673,695 - 5,727,849 (-)NCBIHuRef
CHM1_116,514,665 - 6,568,791 (-)NCBICHM1_1
Plekhg5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394152,156,890 - 152,199,861 (+)NCBIGRCm39mm39
GRCm39 Ensembl4152,156,955 - 152,199,857 (+)Ensembl
GRCm384152,072,433 - 152,115,404 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4152,072,498 - 152,115,400 (+)EnsemblGRCm38mm10GRCm38
MGSCv374151,470,828 - 151,489,509 (+)NCBIGRCm37mm9NCBIm37
MGSCv364150,940,519 - 150,959,200 (+)NCBImm8
Celera4154,383,207 - 154,401,930 (+)NCBICelera
Cytogenetic Map4E2NCBI
Plekhg5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25162,577,999 - 162,621,518 (+)NCBI
Rnor_6.0 Ensembl5169,244,778 - 169,288,309 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05169,244,778 - 169,288,310 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05172,803,041 - 172,846,761 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45169,301,095 - 169,344,134 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15169,311,282 - 169,354,321 (+)NCBI
Celera5160,810,630 - 160,853,658 (+)NCBICelera
Cytogenetic Map5q36NCBI
Plekhg5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554866,107,024 - 6,121,356 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554866,099,654 - 6,121,805 (+)NCBIChiLan1.0ChiLan1.0
PLEKHG5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.116,481,341 - 6,511,652 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl16,481,782 - 6,535,643 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v015,228,681 - 5,259,554 (-)NCBIMhudiblu_PPA_v0panPan3
PLEKHG5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1560,321,453 - 60,347,393 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl560,321,465 - 60,348,088 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha560,331,033 - 60,357,773 (-)NCBI
ROS_Cfam_1.0560,537,129 - 60,563,846 (-)NCBI
UMICH_Zoey_3.1560,536,427 - 60,563,129 (-)NCBI
UNSW_CanFamBas_1.0560,403,196 - 60,429,897 (-)NCBI
UU_Cfam_GSD_1.0560,804,787 - 60,831,497 (-)NCBI
Plekhg5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505830,770,105 - 30,801,791 (-)NCBI
SpeTri2.0NW_0049366231,255,350 - 1,279,310 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLEKHG5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl667,316,819 - 67,353,106 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1667,316,818 - 67,373,787 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2662,274,608 - 62,319,169 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLEKHG5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120125,223,074 - 125,276,115 (+)NCBI
ChlSab1.1 Ensembl20125,244,593 - 125,275,676 (+)Ensembl
Plekhg5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248184,990,321 - 5,010,308 (+)NCBI

Position Markers
SHGC-155205  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,540,601 - 6,540,700UniSTSGRCh37
Build 3616,463,188 - 6,463,287RGDNCBI36
Celera15,655,049 - 5,655,148RGD
Cytogenetic Map1p36.31UniSTS
HuRef15,688,453 - 5,688,552UniSTS
TNG Radiation Hybrid Map12250.0UniSTS
SHGC-155709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,542,326 - 6,542,603UniSTSGRCh37
Build 3616,464,913 - 6,465,190RGDNCBI36
Celera15,656,774 - 5,657,051RGD
Cytogenetic Map1p36.31UniSTS
HuRef15,690,178 - 5,690,455UniSTS
TNG Radiation Hybrid Map12246.0UniSTS
SHGC-156104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,529,469 - 6,529,740UniSTSGRCh37
Build 3616,452,056 - 6,452,327RGDNCBI36
Celera15,643,917 - 5,644,188RGD
Cytogenetic Map1p36.31UniSTS
HuRef15,677,012 - 5,677,283UniSTS
TNG Radiation Hybrid Map12250.0UniSTS
D1S3701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,547,652 - 6,547,765UniSTSGRCh37
Build 3616,470,239 - 6,470,352RGDNCBI36
Celera15,661,455 - 5,661,568RGD
HuRef15,695,504 - 5,695,617UniSTS
SHGC-74147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,536,567 - 6,536,700UniSTSGRCh37
Build 3616,459,154 - 6,459,287RGDNCBI36
Celera15,651,014 - 5,651,147RGD
Cytogenetic Map1p36.31UniSTS
HuRef15,684,418 - 5,684,551UniSTS
TNG Radiation Hybrid Map12246.0UniSTS
GeneMap99-GB4 RH Map123.89UniSTS
SHGC-74157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,526,358 - 6,526,515UniSTSGRCh37
Build 3616,448,945 - 6,449,102RGDNCBI36
Celera15,640,806 - 5,640,963RGD
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p36.2UniSTS
HuRef15,673,901 - 5,674,058UniSTS
TNG Radiation Hybrid Map12221.0UniSTS
GeneMap99-GB4 RH Map127.0UniSTS
A006V30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,581,431 - 6,581,549UniSTSGRCh37
Build 3616,504,018 - 6,504,136RGDNCBI36
Celera15,695,287 - 5,695,405RGD
Cytogenetic Map1p36.31UniSTS
HuRef15,729,159 - 5,729,277UniSTS
GeneMap99-GB4 RH Map123.89UniSTS
RH68223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3716,581,426 - 6,581,547UniSTSGRCh37
Build 3616,504,013 - 6,504,134RGDNCBI36
Celera15,695,282 - 5,695,403RGD
Cytogenetic Map1p36.31UniSTS
HuRef15,729,154 - 5,729,275UniSTS
GeneMap99-GB4 RH Map125.38UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7129
Count of miRNA genes:932
Interacting mature miRNAs:1162
Transcripts:ENST00000340850, ENST00000377725, ENST00000377728, ENST00000377732, ENST00000377737, ENST00000377740, ENST00000377748, ENST00000400913, ENST00000400915, ENST00000487949, ENST00000489097, ENST00000535355, ENST00000537245, ENST00000544978
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1133 763 1016 115 363 12 2721 637 2463 102 1068 991 115 943 1397 1
Low 1299 1699 677 479 691 424 1628 1550 1238 310 381 617 57 261 1389 3
Below cutoff 2 520 32 28 841 28 7 5 16 7 5 4 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001265592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001265593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001265594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB018263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB097001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF033726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG698980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ185626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA091930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA100291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA126163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA915753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB093234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB225012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000340850   ⟹   ENSP00000344570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,466,092 - 6,490,580 (-)Ensembl
RefSeq Acc Id: ENST00000377725   ⟹   ENSP00000366954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,490,570 (-)Ensembl
RefSeq Acc Id: ENST00000377728   ⟹   ENSP00000366957
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,491,700 (-)Ensembl
RefSeq Acc Id: ENST00000377732   ⟹   ENSP00000366961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,496,696 (-)Ensembl
RefSeq Acc Id: ENST00000377740   ⟹   ENSP00000366969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,520,061 (-)Ensembl
RefSeq Acc Id: ENST00000377748   ⟹   ENSP00000366977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,466,092 - 6,520,009 (-)Ensembl
RefSeq Acc Id: ENST00000400913   ⟹   ENSP00000383704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,466,092 - 6,485,954 (-)Ensembl
RefSeq Acc Id: ENST00000400915   ⟹   ENSP00000383706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,497,390 (-)Ensembl
RefSeq Acc Id: ENST00000487949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,471,583 (-)Ensembl
RefSeq Acc Id: ENST00000489097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,466,092 - 6,477,588 (-)Ensembl
RefSeq Acc Id: ENST00000535355   ⟹   ENSP00000441445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,466,092 - 6,485,469 (-)Ensembl
RefSeq Acc Id: ENST00000537245   ⟹   ENSP00000439625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,466,092 - 6,497,096 (-)Ensembl
RefSeq Acc Id: ENST00000673471   ⟹   ENSP00000500749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,466,506 - 6,506,158 (-)Ensembl
RefSeq Acc Id: ENST00000674685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,470,637 - 6,472,240 (-)Ensembl
RefSeq Acc Id: ENST00000674790   ⟹   ENSP00000502815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,485,469 (-)Ensembl
RefSeq Acc Id: ENST00000674803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,475,448 - 6,485,952 (-)Ensembl
RefSeq Acc Id: ENST00000674943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,470,256 - 6,470,938 (-)Ensembl
RefSeq Acc Id: ENST00000675093   ⟹   ENSP00000502687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,474,575 - 6,491,696 (-)Ensembl
RefSeq Acc Id: ENST00000675123   ⟹   ENSP00000502132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,270 - 6,477,658 (-)Ensembl
RefSeq Acc Id: ENST00000675139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,469,021 - 6,469,454 (-)Ensembl
RefSeq Acc Id: ENST00000675548   ⟹   ENSP00000502684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,122 - 6,496,569 (-)Ensembl
RefSeq Acc Id: ENST00000675655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,475,082 - 6,485,954 (-)Ensembl
RefSeq Acc Id: ENST00000675694   ⟹   ENSP00000501925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,128 - 6,485,895 (-)Ensembl
RefSeq Acc Id: ENST00000675812   ⟹   ENSP00000501842
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,496,498 - 6,520,074 (-)Ensembl
RefSeq Acc Id: ENST00000675976   ⟹   ENSP00000501611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,467,755 - 6,469,163 (-)Ensembl
RefSeq Acc Id: ENST00000676255   ⟹   ENSP00000502459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,474,451 - 6,475,497 (-)Ensembl
RefSeq Acc Id: ENST00000676287   ⟹   ENSP00000502810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,474,577 - 6,485,952 (-)Ensembl
RefSeq Acc Id: ENST00000676362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,475,117 - 6,490,580 (-)Ensembl
RefSeq Acc Id: ENST00000676401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl16,469,226 - 6,470,732 (-)Ensembl
RefSeq Acc Id: NM_001042663   ⟹   NP_001036128
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,467,122 - 6,497,412 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
Build 3616,448,739 - 6,480,071 (-)NCBI Archive
Celera15,640,600 - 5,693,925 (-)RGD
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,546,010 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001042664   ⟹   NP_001036129
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,466,092 - 6,490,580 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
Build 3616,448,739 - 6,473,227 (-)NCBI Archive
Celera15,640,600 - 5,693,925 (-)RGD
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,539,166 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001042665   ⟹   NP_001036130
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,466,092 - 6,485,954 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
Build 3616,448,739 - 6,468,601 (-)NCBI Archive
Celera15,640,600 - 5,693,925 (-)RGD
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,534,540 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001265592   ⟹   NP_001252521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,467,122 - 6,497,231 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,545,682 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001265593   ⟹   NP_001252522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,466,092 - 6,485,469 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,534,055 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001265594   ⟹   NP_001252523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,466,092 - 6,490,580 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,539,180 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020631   ⟹   NP_065682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,467,122 - 6,491,667 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
Build 3616,448,739 - 6,474,347 (-)NCBI Archive
Celera15,640,600 - 5,693,925 (-)RGD
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,540,287 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198681   ⟹   NP_941374
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,467,122 - 6,520,092 (-)NCBI
GRCh3716,526,152 - 6,580,121 (-)NCBI
Build 3616,448,739 - 6,502,656 (-)NCBI Archive
Celera15,640,600 - 5,693,925 (-)RGD
HuRef15,673,695 - 5,727,849 (-)NCBI
CHM1_116,514,665 - 6,568,791 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_941374   ⟸   NM_198681
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001036128   ⟸   NM_001042663
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_065682   ⟸   NM_020631
- Peptide Label: isoform a
- UniProtKB: O94827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001036129   ⟸   NM_001042664
- Peptide Label: isoform a
- UniProtKB: O94827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001036130   ⟸   NM_001042665
- Peptide Label: isoform a
- UniProtKB: O94827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001252521   ⟸   NM_001265592
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001252523   ⟸   NM_001265594
- Peptide Label: isoform f
- UniProtKB: O94827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001252522   ⟸   NM_001265593
- Peptide Label: isoform e
- UniProtKB: O94827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000500749   ⟸   ENST00000673471
RefSeq Acc Id: ENSP00000383706   ⟸   ENST00000400915
RefSeq Acc Id: ENSP00000383704   ⟸   ENST00000400913
RefSeq Acc Id: ENSP00000366954   ⟸   ENST00000377725
RefSeq Acc Id: ENSP00000366957   ⟸   ENST00000377728
RefSeq Acc Id: ENSP00000366961   ⟸   ENST00000377732
RefSeq Acc Id: ENSP00000366969   ⟸   ENST00000377740
RefSeq Acc Id: ENSP00000366977   ⟸   ENST00000377748
RefSeq Acc Id: ENSP00000441445   ⟸   ENST00000535355
RefSeq Acc Id: ENSP00000439625   ⟸   ENST00000537245
RefSeq Acc Id: ENSP00000344570   ⟸   ENST00000340850
RefSeq Acc Id: ENSP00000502815   ⟸   ENST00000674790
RefSeq Acc Id: ENSP00000501842   ⟸   ENST00000675812
RefSeq Acc Id: ENSP00000501925   ⟸   ENST00000675694
RefSeq Acc Id: ENSP00000502684   ⟸   ENST00000675548
RefSeq Acc Id: ENSP00000501611   ⟸   ENST00000675976
RefSeq Acc Id: ENSP00000502132   ⟸   ENST00000675123
RefSeq Acc Id: ENSP00000502687   ⟸   ENST00000675093
RefSeq Acc Id: ENSP00000502810   ⟸   ENST00000676287
RefSeq Acc Id: ENSP00000502459   ⟸   ENST00000676255
Protein Domains
DH   PH

Promoters
RGD ID:6786261
Promoter ID:HG_KWN:441
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC001ANJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,454,551 - 6,455,051 (-)MPROMDB
RGD ID:6786258
Promoter ID:HG_KWN:443
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_001042665,   OTTHUMT00000002636
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,469,116 - 6,469,616 (-)MPROMDB
RGD ID:6786257
Promoter ID:HG_KWN:444
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001042664,   UC009VMB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,472,906 - 6,473,607 (-)MPROMDB
RGD ID:6786259
Promoter ID:HG_KWN:445
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_020631
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,474,296 - 6,474,796 (-)MPROMDB
RGD ID:6786262
Promoter ID:HG_KWN:446
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC001ANN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,480,036 - 6,480,536 (-)MPROMDB
RGD ID:6786263
Promoter ID:HG_KWN:447
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:ENST00000377714,   ENST00000400915,   NM_001042663
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,480,136 - 6,480,636 (-)MPROMDB
RGD ID:6853928
Promoter ID:EPDNEW_H129
Type:initiation region
Name:PLEKHG5_3
Description:pleckstrin homology and RhoGEF domain containing G5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H130  EPDNEW_H131  EPDNEW_H132  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,485,467 - 6,485,527EPDNEW
RGD ID:6853930
Promoter ID:EPDNEW_H130
Type:initiation region
Name:PLEKHG5_2
Description:pleckstrin homology and RhoGEF domain containing G5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H129  EPDNEW_H131  EPDNEW_H132  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,490,580 - 6,490,640EPDNEW
RGD ID:6853932
Promoter ID:EPDNEW_H131
Type:initiation region
Name:PLEKHG5_1
Description:pleckstrin homology and RhoGEF domain containing G5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H129  EPDNEW_H130  EPDNEW_H132  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,497,424 - 6,497,484EPDNEW
RGD ID:6786260
Promoter ID:HG_KWN:448
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:NM_198681,   UC001ANQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616,502,511 - 6,503,011 (-)MPROMDB
RGD ID:6853934
Promoter ID:EPDNEW_H132
Type:initiation region
Name:PLEKHG5_4
Description:pleckstrin homology and RhoGEF domain containing G5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H129  EPDNEW_H130  EPDNEW_H131  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816,520,062 - 6,520,122EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020631.5(PLEKHG5):c.2124G>A (p.Glu708=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000530641] Chr1:6469167 [GRCh38]
Chr1:6529227 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2156_2157insAGA (p.Glu723dup) insertion Distal spinal muscular atrophy, autosomal recessive 4 [RCV000545231] Chr1:6469134..6469135 [GRCh38]
Chr1:6529194..6529195 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2713C>T (p.Leu905Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000545725] Chr1:6468123 [GRCh38]
Chr1:6528183 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1082T>G (p.Leu361Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000800355]|not provided [RCV000520885] Chr1:6471807 [GRCh38]
Chr1:6531867 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2017C>T (p.Arg673Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000542150] Chr1:6469367 [GRCh38]
Chr1:6529427 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2506A>G (p.Met836Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000528191] Chr1:6468330 [GRCh38]
Chr1:6528390 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1647G>A (p.Glu549=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000550785] Chr1:6470539 [GRCh38]
Chr1:6530599 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1392G>A (p.Thr464=) single nucleotide variant not provided [RCV000523343] Chr1:6470990 [GRCh38]
Chr1:6531050 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.572G>A (p.Arg191Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000554907] Chr1:6474032 [GRCh38]
Chr1:6534092 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1260C>T (p.Asp420=) single nucleotide variant not specified [RCV000602587] Chr1:6471509 [GRCh38]
Chr1:6531569 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.43+20G>T single nucleotide variant not specified [RCV000602937] Chr1:6477509 [GRCh38]
Chr1:6537569 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.87G>A (p.Pro29=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000550695]|not provided [RCV001171747] Chr1:6475993 [GRCh38]
Chr1:6536053 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2837C>T (p.Ala946Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000548809] Chr1:6467999 [GRCh38]
Chr1:6528059 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.412T>C (p.Phe138Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000525735] Chr1:6474478 [GRCh38]
Chr1:6534538 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2070T>C (p.Arg690=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000552199] Chr1:6469221 [GRCh38]
Chr1:6529281 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000001074]|Hereditary motor neuron disease [RCV000790140] Chr1:6469444 [GRCh38]
Chr1:6529504 [GRCh37]
Chr1:1p36.31
pathogenic|uncertain significance
GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1 copy number loss See cases [RCV000051086] Chr1:2844760..8007940 [GRCh38]
Chr1:2761325..8068000 [GRCh37]
Chr1:2751185..7990587 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:5274008-9329925)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053727]|See cases [RCV000053727] Chr1:5274008..9329925 [GRCh38]
Chr1:5334068..9389984 [GRCh37]
Chr1:5233928..9312571 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3438149-8171914)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053718]|See cases [RCV000053718] Chr1:3438149..8171914 [GRCh38]
Chr1:3354713..8231974 [GRCh37]
Chr1:3344573..8154561 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1 copy number loss See cases [RCV000053720] Chr1:3472163..7842947 [GRCh38]
Chr1:3388727..7903007 [GRCh37]
Chr1:3378587..7825594 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
NM_020631.5(PLEKHG5):c.38del (p.Pro13fs) deletion Charcot-Marie-Tooth disease, recessive intermediate c [RCV000054544] Chr1:6477534 [GRCh38]
Chr1:6537594 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.5(PLEKHG5):c.912_918dup (p.Glu307Ter) duplication Charcot-Marie-Tooth disease, recessive intermediate c [RCV000054545] Chr1:6473051..6473052 [GRCh38]
Chr1:6533111..6533112 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.5(PLEKHG5):c.2458G>C (p.Gly820Arg) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV000054546] Chr1:6468378 [GRCh38]
Chr1:6528438 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.5(PLEKHG5):c.1988C>T (p.Thr663Met) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV000054547]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001039170] Chr1:6469396 [GRCh38]
Chr1:6529456 [GRCh37]
Chr1:1p36.31
pathogenic|uncertain significance
NM_020631.4(PLEKHG5):c.1769G>A (p.Ser590Asn) single nucleotide variant Malignant melanoma [RCV000064862] Chr1:6470267 [GRCh38]
Chr1:6530327 [GRCh37]
Chr1:6452914 [NCBI36]
Chr1:1p36.31
not provided
NM_020631.6(PLEKHG5):c.1741G>A (p.Glu581Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645437] Chr1:6470295 [GRCh38]
Chr1:6530355 [GRCh37]
Chr1:6452942 [NCBI36]
Chr1:1p36.31
uncertain significance|not provided
NM_020631.4(PLEKHG5):c.1225G>A (p.Ala409Thr) single nucleotide variant Malignant melanoma [RCV000064864] Chr1:6471544 [GRCh38]
Chr1:6531604 [GRCh37]
Chr1:6454191 [NCBI36]
Chr1:1p36.31
not provided
NM_020631.5(PLEKHG5):c.-88+5G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000343296]|not specified [RCV000127456] Chr1:6491632 [GRCh38]
Chr1:6551692 [GRCh37]
Chr1:1p36.31
benign
NM_020631.6(PLEKHG5):c.3012-17_3012-6del deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001312258] Chr1:6467578..6467589 [GRCh38]
Chr1:6527638..6527649 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2001T>C (p.Ser667=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000288519]|not specified [RCV000175354] Chr1:6469383 [GRCh38]
Chr1:6529443 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2145_2147GGA[6] (p.Glu722_Glu723del) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV000544028]|none provided [RCV001285935]|not specified [RCV000175470] Chr1:6469123..6469128 [GRCh38]
Chr1:6529183..6529188 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2163G>A (p.Glu721=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000294433]|not specified [RCV000175471] Chr1:6469128 [GRCh38]
Chr1:6529188 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.713C>G (p.Thr238Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000346358]|not specified [RCV000180356] Chr1:6473333 [GRCh38]
Chr1:6533393 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000397744]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000536368]|not specified [RCV000180357] Chr1:6473355 [GRCh38]
Chr1:6533415 [GRCh37]
Chr1:1p36.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.1616C>T (p.Ala539Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000310703]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645414]|not provided [RCV000724398]|not specified [RCV001001707] Chr1:6470570 [GRCh38]
Chr1:6530630 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1572C>T (p.His524=) single nucleotide variant not provided [RCV000174943] Chr1:6470614 [GRCh38]
Chr1:6530674 [GRCh37]
Chr1:1p36.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
NM_020631.5(PLEKHG5):c.1729G>A (p.Ala577Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645421]|not provided [RCV000175094] Chr1:6470307 [GRCh38]
Chr1:6530367 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001078661]|none provided [RCV001287535]|not provided [RCV000421448]|not specified [RCV000175222] Chr1:6469545 [GRCh38]
Chr1:6529605 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1 copy number loss See cases [RCV000141437] Chr1:2868477..7332569 [GRCh38]
Chr1:2785042..7392629 [GRCh37]
Chr1:2774902..7315216 [NCBI36]
Chr1:1p36.32-36.23
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
NM_020631.5(PLEKHG5):c.2145_2147GGA[7] (p.Glu723del) microsatellite Distal spinal muscular atrophy [RCV000320159]|not specified [RCV000175472] Chr1:6469123..6469125 [GRCh38]
Chr1:6529183..6529185 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2867G>A (p.Arg956Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000704348]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097972]|not provided [RCV000724525] Chr1:6467969 [GRCh38]
Chr1:6528029 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2720T>C (p.Leu907Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000693435]|not provided [RCV000176112] Chr1:6468116 [GRCh38]
Chr1:6528176 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2564C>T (p.Ser855Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645441]|not provided [RCV000176113] Chr1:6468272 [GRCh38]
Chr1:6528332 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.518G>A (p.Arg173Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000529715]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099940]|not provided [RCV000724523]|not specified [RCV000236863] Chr1:6474086 [GRCh38]
Chr1:6534146 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.719A>G (p.Asp240Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000546292]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001098160]|not provided [RCV000724237] Chr1:6473327 [GRCh38]
Chr1:6533387 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.73C>T (p.Arg25Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645438]|not provided [RCV000177318] Chr1:6476007 [GRCh38]
Chr1:6536067 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2164G>A (p.Glu722Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000386414]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000560820]|not specified [RCV000608453] Chr1:6469127 [GRCh38]
Chr1:6529187 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.882C>T (p.Phe294=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000386812]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000528955] Chr1:6473088 [GRCh38]
Chr1:6533148 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2485G>T (p.Asp829Tyr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000390391]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001083084]|not provided [RCV000522669] Chr1:6468351 [GRCh38]
Chr1:6528411 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.1801-12C>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000393394] Chr1:6469688 [GRCh38]
Chr1:6529748 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2582G>A (p.Arg861His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000395914] Chr1:6468254 [GRCh38]
Chr1:6528314 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1552G>A (p.Val518Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000399394]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001040533] Chr1:6470634 [GRCh38]
Chr1:6530694 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*1304G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000263899] Chr1:6466259 [GRCh38]
Chr1:6526319 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2428G>A (p.Gly810Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000402279]|not specified [RCV000301649] Chr1:6468408 [GRCh38]
Chr1:6528468 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000297306]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000544761]|not specified [RCV000429865] Chr1:6474072 [GRCh38]
Chr1:6534132 [GRCh37]
Chr1:1p36.31
benign|likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.865C>T (p.Pro289Ser) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001329768]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000294781]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000811813] Chr1:6473105 [GRCh38]
Chr1:6533165 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1514C>T (p.Pro505Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000304077]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000797513] Chr1:6470763 [GRCh38]
Chr1:6530823 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.440-10C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000300647]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000552947]|not specified [RCV000390439] Chr1:6474174 [GRCh38]
Chr1:6534234 [GRCh37]
Chr1:1p36.31
benign|likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2576G>A (p.Arg859His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000300757]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000553106]|none provided [RCV001287708]|not specified [RCV000365803] Chr1:6468260 [GRCh38]
Chr1:6528320 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.620C>T (p.Ser207Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000283332]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645443] Chr1:6473426 [GRCh38]
Chr1:6533486 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*363C>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000274872] Chr1:6467200 [GRCh38]
Chr1:6527260 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.430C>T (p.Arg144Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000274911]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001204465] Chr1:6474460 [GRCh38]
Chr1:6534520 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2746A>C (p.Thr916Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000284414]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645440]|not provided [RCV001171746] Chr1:6468090 [GRCh38]
Chr1:6528150 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000262915]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001082444]|none provided [RCV001286042]|not provided [RCV000527612]|not specified [RCV000423998] Chr1:6473042 [GRCh38]
Chr1:6533102 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.22C>T (p.Arg8Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000286017] Chr1:6477550 [GRCh38]
Chr1:6537610 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.795+8G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000289044]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000549773]|not specified [RCV000441684] Chr1:6473243 [GRCh38]
Chr1:6533303 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2249+4C>T single nucleotide variant Distal spinal muscular atrophy [RCV000268467]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001093788] Chr1:6469038 [GRCh38]
Chr1:6529098 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000259223]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001084341]|not provided [RCV000757669]|not specified [RCV000327530] Chr1:6471515 [GRCh38]
Chr1:6531575 [GRCh37]
Chr1:1p36.31
benign|likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.30C>T (p.Asp10=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000377377]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000547577]|none provided [RCV001282780]|not specified [RCV000444079] Chr1:6477542 [GRCh38]
Chr1:6537602 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2634C>T (p.Ser878=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000379985]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000546929]|not specified [RCV000605204] Chr1:6468202 [GRCh38]
Chr1:6528262 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.795+13A>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000381072] Chr1:6473238 [GRCh38]
Chr1:6533298 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.43+13G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000383238] Chr1:6477516 [GRCh38]
Chr1:6537576 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2420C>T (p.Pro807Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000364612]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000821570] Chr1:6468416 [GRCh38]
Chr1:6528476 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.439+12C>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000367150]|not specified [RCV000429565] Chr1:6474439 [GRCh38]
Chr1:6534499 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.260T>C (p.Ile87Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000370430]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001086687]|not provided [RCV000755623]|not specified [RCV000421096] Chr1:6475089 [GRCh38]
Chr1:6535149 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2433C>T (p.Arg811=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000370490]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000524827]|not provided [RCV000726089]|not specified [RCV000381489] Chr1:6468403 [GRCh38]
Chr1:6528463 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.912_914del (p.Asp304del) deletion not provided [RCV000756549] Chr1:6473056..6473058 [GRCh38]
Chr1:6533116..6533118 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.971T>C (p.Ile324Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000797810]|not provided [RCV000222151] Chr1:6472999 [GRCh38]
Chr1:6533059 [GRCh37]
Chr1:1p36.31
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001088219]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101747]|not provided [RCV000554274]|not specified [RCV000221669] Chr1:6468378 [GRCh38]
Chr1:6528438 [GRCh37]
Chr1:1p36.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000335865]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001084429]|not provided [RCV000224958]|not specified [RCV000312080] Chr1:6468242 [GRCh38]
Chr1:6528302 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.33T>C (p.Leu11=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000320392]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001083200]|not provided [RCV000658487]|not specified [RCV000430412] Chr1:6477539 [GRCh38]
Chr1:6537599 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.1576A>G (p.Asn526Asp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000358481]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001305661] Chr1:6470610 [GRCh38]
Chr1:6530670 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2307G>A (p.Thr769=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000360820]|not specified [RCV000359098] Chr1:6468529 [GRCh38]
Chr1:6528589 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.1318A>G (p.Met440Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000361181] Chr1:6471064 [GRCh38]
Chr1:6531124 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.83C>T (p.Pro28Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000535663]|not provided [RCV000235252] Chr1:6475997 [GRCh38]
Chr1:6536057 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.395C>T (p.Thr132Ile) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001065499]|not provided [RCV000235373] Chr1:6474495 [GRCh38]
Chr1:6534555 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2525G>A (p.Arg842Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645430]|not provided [RCV000725435] Chr1:6468311 [GRCh38]
Chr1:6528371 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.88C>T (p.Arg30Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000268718]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001080020]|none provided [RCV001282471]|not provided [RCV000488190]|not specified [RCV000235739] Chr1:6475992 [GRCh38]
Chr1:6536052 [GRCh37]
Chr1:1p36.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.638C>T (p.Ala213Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000532897]|not provided [RCV000235831] Chr1:6473408 [GRCh38]
Chr1:6533468 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.551G>A (p.Arg184His) single nucleotide variant not provided [RCV000236140] Chr1:6474053 [GRCh38]
Chr1:6534113 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2900G>T (p.Arg967Met) single nucleotide variant not provided [RCV000236324] Chr1:6467936 [GRCh38]
Chr1:6527996 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.793C>T (p.Arg265Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001037989]|not provided [RCV000236368] Chr1:6473253 [GRCh38]
Chr1:6533313 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2609C>T (p.Pro870Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001221063]|not provided [RCV000236354] Chr1:6468227 [GRCh38]
Chr1:6528287 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1738G>A (p.Glu580Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000528786]|not provided [RCV000236407]|not specified [RCV001002507] Chr1:6470298 [GRCh38]
Chr1:6530358 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.994C>T (p.Arg332Trp) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001329769]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001086658]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096420]|not provided [RCV000236410] Chr1:6472613 [GRCh38]
Chr1:6532673 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.1826C>A (p.Thr609Lys) single nucleotide variant not provided [RCV000236440] Chr1:6469651 [GRCh38]
Chr1:6529711 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1507G>C (p.Glu503Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645439]|not provided [RCV000236457] Chr1:6470770 [GRCh38]
Chr1:6530830 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000313379]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001083174]|none provided [RCV001284857]|not provided [RCV000761631] Chr1:6474583 [GRCh38]
Chr1:6534643 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.541G>A (p.Ala181Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000700354]|not provided [RCV000727189] Chr1:6474063 [GRCh38]
Chr1:6534123 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.482T>C (p.Met161Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000399593]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645450]|not specified [RCV000236656] Chr1:6474122 [GRCh38]
Chr1:6534182 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.274G>A (p.Val92Ile) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645436]|not provided [RCV000236807] Chr1:6475075 [GRCh38]
Chr1:6535135 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000272467]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001087015]|not provided [RCV000415946]|not specified [RCV000236941] Chr1:6477538 [GRCh38]
Chr1:6537598 [GRCh37]
Chr1:1p36.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.2848G>T (p.Ala950Ser) single nucleotide variant not provided [RCV000236991] Chr1:6467988 [GRCh38]
Chr1:6528048 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.918C>T (p.Asp306=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000329792]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000549059]|not specified [RCV000429918] Chr1:6473052 [GRCh38]
Chr1:6533112 [GRCh37]
Chr1:1p36.31
benign|likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.43+14_43+20del deletion Distal spinal muscular atrophy [RCV000326084]|none provided [RCV001000628] Chr1:6477509..6477515 [GRCh38]
Chr1:6537569..6537575 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2427C>T (p.Asp809=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000307661]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000551255] Chr1:6468409 [GRCh38]
Chr1:6528469 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.495G>A (p.Lys165=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000335921]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000541394]|not specified [RCV000434281] Chr1:6474109 [GRCh38]
Chr1:6534169 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2457C>T (p.Tyr819=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000313474]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000539676]|not specified [RCV000433148] Chr1:6468379 [GRCh38]
Chr1:6528439 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000327806]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000534170]|none provided [RCV001287638]|not specified [RCV000271172] Chr1:6468009 [GRCh38]
Chr1:6528069 [GRCh37]
Chr1:1p36.31
benign|likely benign
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_020631.5(PLEKHG5):c.2201C>T (p.Ser734Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000316564] Chr1:6469090 [GRCh38]
Chr1:6529150 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1240G>A (p.Ala414Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000317056] Chr1:6471529 [GRCh38]
Chr1:6531589 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.571C>T (p.Arg191Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000341816]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000695496] Chr1:6474033 [GRCh38]
Chr1:6534093 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2691C>T (p.Ala897=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000341721]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000557213] Chr1:6468145 [GRCh38]
Chr1:6528205 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.1883G>A (p.Arg628Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000345713]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001088203]|not provided [RCV000645417] Chr1:6469594 [GRCh38]
Chr1:6529654 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.2160G>A (p.Glu720=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000351675]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001082146]|not provided [RCV000264925] Chr1:6469131 [GRCh38]
Chr1:6529191 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.1179G>A (p.Leu393=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000355440] Chr1:6471590 [GRCh38]
Chr1:6531650 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2543G>A (p.Arg848Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000348442]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000538204] Chr1:6468293 [GRCh38]
Chr1:6528353 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2331C>T (p.Ser777=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000322351]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000547911]|none provided [RCV001001535] Chr1:6468505 [GRCh38]
Chr1:6528565 [GRCh37]
Chr1:1p36.31
benign|uncertain significance
NM_020631.5(PLEKHG5):c.*843G>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000284113] Chr1:6466720 [GRCh38]
Chr1:6526780 [GRCh37]
Chr1:1p36.31
benign|uncertain significance
NM_020631.5(PLEKHG5):c.*1052G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000274419] Chr1:6466511 [GRCh38]
Chr1:6526571 [GRCh37]
Chr1:1p36.31
benign|uncertain significance
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
NM_020631.5(PLEKHG5):c.*108G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000276085] Chr1:6467455 [GRCh38]
Chr1:6527515 [GRCh37]
Chr1:1p36.31
benign|uncertain significance
NM_020631.5(PLEKHG5):c.*1313C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000354040] Chr1:6466250 [GRCh38]
Chr1:6526310 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.*697C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000300543] Chr1:6466866 [GRCh38]
Chr1:6526926 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.*765T>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000335455] Chr1:6466798 [GRCh38]
Chr1:6526858 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_001265594.2(PLEKHG5):c.2737+22_2737+24del deletion Distal spinal muscular atrophy [RCV000377811]|not provided [RCV000876180] Chr1:6468075..6468077 [GRCh38]
Chr1:6528135..6528137 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.*1440C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000399468] Chr1:6466123 [GRCh38]
Chr1:6526183 [GRCh37]
Chr1:1p36.31
benign
NM_003790.2(TNFRSF25):c.-43_-36del deletion Distal spinal muscular atrophy [RCV000302421] Chr1:6466143..6466150 [GRCh38]
Chr1:6526203..6526210 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.*990C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000289591] Chr1:6466573 [GRCh38]
Chr1:6526633 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.*765del deletion Distal spinal muscular atrophy [RCV000304183] Chr1:6466798 [GRCh38]
Chr1:6526858 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*27T>C single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000381122] Chr1:6467536 [GRCh38]
Chr1:6527596 [GRCh37]
Chr1:1p36.31
benign|uncertain significance
NM_003790.2(TNFRSF25):c.-77_-74del deletion Distal spinal muscular atrophy [RCV000361894] Chr1:6466181..6466184 [GRCh38]
Chr1:6526241..6526244 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.*1158G>C single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000387093] Chr1:6466405 [GRCh38]
Chr1:6526465 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.*290T>C single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000311319] Chr1:6467273 [GRCh38]
Chr1:6527333 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.64G>A (p.Val22Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000558074]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101949]|not specified [RCV000303908] Chr1:6476016 [GRCh38]
Chr1:6536076 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2145_2147GGA[10] (p.Glu722_Glu723dup) microsatellite Distal spinal muscular atrophy [RCV000281434]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000688917]|not specified [RCV000605126] Chr1:6469122..6469123 [GRCh38]
Chr1:6529182..6529183 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2410C>T (p.Pro804Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000272393] Chr1:6468426 [GRCh38]
Chr1:6528486 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2952C>T (p.Thr984=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000272719] Chr1:6467884 [GRCh38]
Chr1:6527944 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2377dup (p.Ala793fs) duplication not provided [RCV000281055] Chr1:6468458..6468459 [GRCh38]
Chr1:6528518..6528519 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1371C>T (p.Asp457=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001078704]|not provided [RCV000313867] Chr1:6471011 [GRCh38]
Chr1:6531071 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.*981dup duplication Distal spinal muscular atrophy [RCV000344475] Chr1:6466581..6466582 [GRCh38]
Chr1:6526641..6526642 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.753C>T (p.Ser251=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001098159]|not provided [RCV000726597]|not specified [RCV000317714] Chr1:6473293 [GRCh38]
Chr1:6533353 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.214C>A (p.Pro72Thr) single nucleotide variant not provided [RCV000317590] Chr1:6475135 [GRCh38]
Chr1:6535195 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2319C>T (p.Pro773=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000537836]|not specified [RCV000287808] Chr1:6468517 [GRCh38]
Chr1:6528577 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.796-9T>G single nucleotide variant not provided [RCV000318754] Chr1:6473183 [GRCh38]
Chr1:6533243 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2145_2147GGA[9] (p.Glu723dup) microsatellite Distal spinal muscular atrophy [RCV000373626]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000534497]|not specified [RCV000483074] Chr1:6469122..6469123 [GRCh38]
Chr1:6529182..6529183 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2431C>T (p.Arg811Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645434]|not provided [RCV000394398] Chr1:6468405 [GRCh38]
Chr1:6528465 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.665C>A (p.Thr222Lys) single nucleotide variant not provided [RCV000329335] Chr1:6473381 [GRCh38]
Chr1:6533441 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*1354T>C single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000267378] Chr1:6466209 [GRCh38]
Chr1:6526269 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2612C>T (p.Pro871Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000278418] Chr1:6468224 [GRCh38]
Chr1:6528284 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001265594.2(PLEKHG5):c.2737+65C>T single nucleotide variant not provided [RCV000263498] Chr1:6468034 [GRCh38]
Chr1:6528094 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001343270]|not provided [RCV000489343] Chr1:6473391 [GRCh38]
Chr1:6533451 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.718G>A (p.Asp240Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001051945]|not provided [RCV000489626] Chr1:6473328 [GRCh38]
Chr1:6533388 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.985-2A>G single nucleotide variant not provided [RCV000585110] Chr1:6472624 [GRCh38]
Chr1:6532684 [GRCh37]
Chr1:1p36.31
likely pathogenic
NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV000526332] Chr1:6468469..6468470 [GRCh38]
Chr1:6528529..6528530 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.5(PLEKHG5):c.2579G>A (p.Arg860His) single nucleotide variant not provided [RCV000490122] Chr1:6468257 [GRCh38]
Chr1:6528317 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2789G>A (p.Arg930Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000560252]|not provided [RCV000490184] Chr1:6468047 [GRCh38]
Chr1:6528107 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2610G>A (p.Pro870=) single nucleotide variant not provided [RCV000597423] Chr1:6468226 [GRCh38]
Chr1:6528286 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.*775T>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000398989] Chr1:6466788 [GRCh38]
Chr1:6526848 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*750del deletion Distal spinal muscular atrophy [RCV000402408] Chr1:6466813 [GRCh38]
Chr1:6526873 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*1347G>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000317801] Chr1:6466216 [GRCh38]
Chr1:6526276 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.806A>T (p.Lys269Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000333497] Chr1:6473164 [GRCh38]
Chr1:6533224 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*905G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000385045] Chr1:6466658 [GRCh38]
Chr1:6526718 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*1289C>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000318513] Chr1:6466274 [GRCh38]
Chr1:6526334 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*1016A>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000334142] Chr1:6466547 [GRCh38]
Chr1:6526607 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*1006C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000388631] Chr1:6466557 [GRCh38]
Chr1:6526617 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1697T>A (p.Leu566Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000551787] Chr1:6470339 [GRCh38]
Chr1:6530399 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*192G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000370553] Chr1:6467371 [GRCh38]
Chr1:6527431 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.913G>A (p.Glu305Lys) single nucleotide variant not provided [RCV000521935] Chr1:6473057 [GRCh38]
Chr1:6533117 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*801G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000339117] Chr1:6466762 [GRCh38]
Chr1:6526822 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*555T>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000355377] Chr1:6467008 [GRCh38]
Chr1:6527068 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2132A>G (p.Gln711Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000393376] Chr1:6469159 [GRCh38]
Chr1:6529219 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.*68C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000326556] Chr1:6467495 [GRCh38]
Chr1:6527555 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2145_2147GGA[2] (p.Glu718_Glu723del) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV001324010]|not specified [RCV000606042] Chr1:6469123..6469140 [GRCh38]
Chr1:6529183..6529200 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.547G>A (p.Glu183Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000397749] Chr1:6474057 [GRCh38]
Chr1:6534117 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001042664.1(PLEKHG5):c.*1186A>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099671] Chr1:6466377 [GRCh38]
Chr1:6526437 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.302+6G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000527205] Chr1:6475041 [GRCh38]
Chr1:6535101 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000807298]|not provided [RCV000579101] Chr1:6469238 [GRCh38]
Chr1:6529298 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.5(PLEKHG5):c.1840G>C (p.Val614Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000553705] Chr1:6469637 [GRCh38]
Chr1:6529697 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2131C>G (p.Gln711Glu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645442]|not provided [RCV000585593] Chr1:6469160 [GRCh38]
Chr1:6529220 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1080+1G>A single nucleotide variant not provided [RCV000521298] Chr1:6472526 [GRCh38]
Chr1:6532586 [GRCh37]
Chr1:1p36.31
likely pathogenic
NM_020631.5(PLEKHG5):c.1215G>A (p.Val405=) single nucleotide variant not specified [RCV000606627] Chr1:6471554 [GRCh38]
Chr1:6531614 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1019C>T (p.Ala340Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000532836] Chr1:6472588 [GRCh38]
Chr1:6532648 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000559390] Chr1:6469058 [GRCh38]
Chr1:6529118 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1292T>G (p.Leu431Arg) single nucleotide variant not provided [RCV000757670] Chr1:6471090 [GRCh38]
Chr1:6531150 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1987A>G (p.Thr663Ala) single nucleotide variant not provided [RCV000757671] Chr1:6469397 [GRCh38]
Chr1:6529457 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2293G>C (p.Glu765Gln) single nucleotide variant not provided [RCV000734699] Chr1:6468543 [GRCh38]
Chr1:6528603 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.997C>T (p.Arg333Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000552251]|not specified [RCV000413441] Chr1:6472610 [GRCh38]
Chr1:6532670 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.31(chr1:2609223-2631378)x3 copy number gain See cases [RCV000447158] Chr1:2609223..2631378 [GRCh37]
Chr1:1p36.32-36.31
benign
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_020631.5(PLEKHG5):c.3011+9C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000876795]|not specified [RCV000427288] Chr1:6467816 [GRCh38]
Chr1:6527876 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.210+20C>T single nucleotide variant not specified [RCV000441272] Chr1:6475442 [GRCh38]
Chr1:6535502 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2226C>T (p.Ser742=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645444]|not specified [RCV000418089] Chr1:6469065 [GRCh38]
Chr1:6529125 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1705G>A (p.Asp569Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000525392]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099856]|none provided [RCV001286509]|not provided [RCV000438420] Chr1:6470331 [GRCh38]
Chr1:6530391 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1236G>A (p.Thr412=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000557715]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101849]|not specified [RCV000428182] Chr1:6471533 [GRCh38]
Chr1:6531593 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.2424G>A (p.Val808=) single nucleotide variant not specified [RCV000418603] Chr1:6468412 [GRCh38]
Chr1:6528472 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2677G>A (p.Gly893Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001080412]|not provided [RCV000428378] Chr1:6468159 [GRCh38]
Chr1:6528219 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.1914C>T (p.Cys638=) single nucleotide variant not specified [RCV000425004] Chr1:6469563 [GRCh38]
Chr1:6529623 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.783C>T (p.Ser261=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000535016]|not specified [RCV000428566] Chr1:6473263 [GRCh38]
Chr1:6533323 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1081-12C>T single nucleotide variant not specified [RCV000435474] Chr1:6471820 [GRCh38]
Chr1:6531880 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001082221]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099855]|not provided [RCV000513012]|not specified [RCV000421655] Chr1:6470312 [GRCh38]
Chr1:6530372 [GRCh37]
Chr1:1p36.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.150-13C>T single nucleotide variant not specified [RCV000421720] Chr1:6475535 [GRCh38]
Chr1:6535595 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.997C>A (p.Arg333=) single nucleotide variant not provided [RCV000728441]|not specified [RCV000428978] Chr1:6472610 [GRCh38]
Chr1:6532670 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020631.5(PLEKHG5):c.2249+7C>G single nucleotide variant not specified [RCV000432447] Chr1:6469035 [GRCh38]
Chr1:6529095 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.621G>A (p.Ser207=) single nucleotide variant not specified [RCV000422168] Chr1:6473425 [GRCh38]
Chr1:6533485 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.-88+1192G>A single nucleotide variant not specified [RCV000422289] Chr1:6490445 [GRCh38]
Chr1:6550505 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.150-11C>A single nucleotide variant not specified [RCV000425796] Chr1:6475533 [GRCh38]
Chr1:6535593 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.639G>A (p.Ala213=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000543094]|not specified [RCV000425949] Chr1:6473407 [GRCh38]
Chr1:6533467 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.-88+6307T>A single nucleotide variant not specified [RCV000432965] Chr1:6485330 [GRCh38]
Chr1:6545390 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2319C>G (p.Pro773=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645447]|not specified [RCV000432966] Chr1:6468517 [GRCh38]
Chr1:6528577 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1896C>T (p.Leu632=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000876582]|not specified [RCV000436490] Chr1:6469581 [GRCh38]
Chr1:6529641 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.-73C>T single nucleotide variant not specified [RCV000420024] Chr1:6477644 [GRCh38]
Chr1:6537704 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2691C>G (p.Ala897=) single nucleotide variant not specified [RCV000422570] Chr1:6468145 [GRCh38]
Chr1:6528205 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1081-19C>T single nucleotide variant not specified [RCV000433063] Chr1:6471827 [GRCh38]
Chr1:6531887 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.186G>A (p.Lys62=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645451]|not specified [RCV000433220] Chr1:6475486 [GRCh38]
Chr1:6535546 [GRCh37]
Chr1:1p36.31
likely benign
NM_198681.4(PLEKHG5):c.-267G>A single nucleotide variant not specified [RCV000433228] Chr1:6519547 [GRCh38]
Chr1:6579607 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.1933+18C>T single nucleotide variant not specified [RCV000436510] Chr1:6469526 [GRCh38]
Chr1:6529586 [GRCh37]
Chr1:1p36.31
likely benign
NM_198681.4(PLEKHG5):c.-164-380T>G single nucleotide variant not specified [RCV000440383] Chr1:6496949 [GRCh38]
Chr1:6557009 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2281A>G (p.Met761Val) single nucleotide variant not provided [RCV000440457] Chr1:6468555 [GRCh38]
Chr1:6528615 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1023G>A (p.Val341=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000543175]|not specified [RCV000422982] Chr1:6472584 [GRCh38]
Chr1:6532644 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1517G>A (p.Arg506His) single nucleotide variant not specified [RCV000433641] Chr1:6470760 [GRCh38]
Chr1:6530820 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.102A>G (p.Ala34=) single nucleotide variant not specified [RCV000433669] Chr1:6475978 [GRCh38]
Chr1:6536038 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.592-14C>T single nucleotide variant not specified [RCV000420304] Chr1:6473468 [GRCh38]
Chr1:6533528 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000873146]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099763]|not specified [RCV000423245] Chr1:6468085 [GRCh38]
Chr1:6528145 [GRCh37]
Chr1:1p36.31
benign|likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.440-6A>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000526781]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099941]|not specified [RCV000437168] Chr1:6474170 [GRCh38]
Chr1:6534230 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2581C>T (p.Arg861Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000533509]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101744]|not specified [RCV000426924] Chr1:6468255 [GRCh38]
Chr1:6528315 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.1530C>T (p.Ala510=) single nucleotide variant not provided [RCV000875111]|not specified [RCV000434100] Chr1:6470747 [GRCh38]
Chr1:6530807 [GRCh37]
Chr1:1p36.31
likely benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_020631.5(PLEKHG5):c.440-2A>G single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001335978]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000705445]|not provided [RCV000485207] Chr1:6474166 [GRCh38]
Chr1:6534226 [GRCh37]
Chr1:1p36.31
pathogenic|likely pathogenic|uncertain significance
NM_020631.5(PLEKHG5):c.1469A>G (p.Lys490Arg) single nucleotide variant not provided [RCV000481782] Chr1:6470808 [GRCh38]
Chr1:6530868 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1495C>G (p.Leu499Val) single nucleotide variant not provided [RCV000485976] Chr1:6470782 [GRCh38]
Chr1:6530842 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1392+10_1392+24del deletion not specified [RCV000482402] Chr1:6470966..6470980 [GRCh38]
Chr1:6531026..6531040 [GRCh37]
Chr1:1p36.31
likely benign
GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1 copy number loss See cases [RCV000510212] Chr1:2793822..7510850 [GRCh37]
Chr1:1p36.32-36.23
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_020631.5(PLEKHG5):c.813G>A (p.Glu271=) single nucleotide variant not specified [RCV000506321] Chr1:6473157 [GRCh38]
Chr1:6533217 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1367A>G (p.Asn456Ser) single nucleotide variant not specified [RCV000506388] Chr1:6471015 [GRCh38]
Chr1:6531075 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_020631.5(PLEKHG5):c.2306C>T (p.Thr769Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001070725]|not provided [RCV000493291] Chr1:6468530 [GRCh38]
Chr1:6528590 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_020631.5(PLEKHG5):c.2250-13C>T single nucleotide variant not specified [RCV000602717] Chr1:6468599 [GRCh38]
Chr1:6528659 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000538796]|not specified [RCV000614525] Chr1:6469659 [GRCh38]
Chr1:6529719 [GRCh37]
Chr1:1p36.31
benign|likely benign
NM_020631.5(PLEKHG5):c.2212A>G (p.Met738Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000549425] Chr1:6469079 [GRCh38]
Chr1:6529139 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2489T>C (p.Phe830Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645415] Chr1:6468347 [GRCh38]
Chr1:6528407 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645420] Chr1:6471499 [GRCh38]
Chr1:6531559 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2227G>A (p.Gly743Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645423] Chr1:6469064 [GRCh38]
Chr1:6529124 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.877C>T (p.Arg293Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645427] Chr1:6473093 [GRCh38]
Chr1:6533153 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1396G>C (p.Ala466Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645428] Chr1:6470881 [GRCh38]
Chr1:6530941 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645431] Chr1:6468401 [GRCh38]
Chr1:6528461 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.161G>A (p.Ser54Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645433] Chr1:6475511 [GRCh38]
Chr1:6535571 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1066C>T (p.Arg356Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645435]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096419] Chr1:6472541 [GRCh38]
Chr1:6532601 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1081-3C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645445] Chr1:6471811 [GRCh38]
Chr1:6531871 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1681-27_1681-3dup duplication Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645449] Chr1:6470357..6470358 [GRCh38]
Chr1:6530417..6530418 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1098C>G (p.Leu366=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645452] Chr1:6471791 [GRCh38]
Chr1:6531851 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2538C>A (p.Ser846=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645453] Chr1:6468298 [GRCh38]
Chr1:6528358 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.302+10_302+11delinsTT indel Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645455] Chr1:6475036..6475037 [GRCh38]
Chr1:6535096..6535097 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2142_2153dup (p.Glu720_Glu723dup) duplication not specified [RCV000605500] Chr1:6469137..6469138 [GRCh38]
Chr1:6529197..6529198 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.414C>T (p.Phe138=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000540593]|not specified [RCV000604106] Chr1:6474476 [GRCh38]
Chr1:6534536 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1681-9C>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000536963] Chr1:6470364 [GRCh38]
Chr1:6530424 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.771C>G (p.Gly257=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000556423] Chr1:6473275 [GRCh38]
Chr1:6533335 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2049+9A>G single nucleotide variant not specified [RCV000607557] Chr1:6469326 [GRCh38]
Chr1:6529386 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1383C>T (p.Ala461=) single nucleotide variant not specified [RCV000602507] Chr1:6470999 [GRCh38]
Chr1:6531059 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.509C>T (p.Pro170Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000555958] Chr1:6474095 [GRCh38]
Chr1:6534155 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1131+19G>A single nucleotide variant not specified [RCV000609694] Chr1:6471739 [GRCh38]
Chr1:6531799 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.474G>A (p.Glu158=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645454]|not specified [RCV000615151] Chr1:6474130 [GRCh38]
Chr1:6534190 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2390C>T (p.Thr797Met) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001329765]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV000540914] Chr1:6468446 [GRCh38]
Chr1:6528506 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.210+16G>T single nucleotide variant not specified [RCV000612742] Chr1:6475446 [GRCh38]
Chr1:6535506 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2160_2163delinsA (p.Glu723del) indel Distal spinal muscular atrophy, autosomal recessive 4 [RCV000560035] Chr1:6469128..6469131 [GRCh38]
Chr1:6529188..6529191 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1211C>G (p.Pro404Arg) single nucleotide variant not provided [RCV000523431] Chr1:6471558 [GRCh38]
Chr1:6531618 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2361C>T (p.Thr787=) single nucleotide variant not provided [RCV000645456]|not specified [RCV000610456] Chr1:6468475 [GRCh38]
Chr1:6528535 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.909C>T (p.Tyr303=) single nucleotide variant not specified [RCV000610548] Chr1:6473061 [GRCh38]
Chr1:6533121 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2050-17C>A single nucleotide variant not specified [RCV000613475] Chr1:6469258 [GRCh38]
Chr1:6529318 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2127_2162dup (p.Asp709_Glu720dup) duplication not specified [RCV000616608] Chr1:6469128..6469129 [GRCh38]
Chr1:6529188..6529189 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1379G>A (p.Arg460Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000556509] Chr1:6471003 [GRCh38]
Chr1:6531063 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1836G>A (p.Leu612=) single nucleotide variant not specified [RCV000608151] Chr1:6469641 [GRCh38]
Chr1:6529701 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.440-17G>A single nucleotide variant not specified [RCV000613646] Chr1:6474181 [GRCh38]
Chr1:6534241 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1356G>A (p.Leu452=) single nucleotide variant not specified [RCV000613701] Chr1:6471026 [GRCh38]
Chr1:6531086 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.984+13C>G single nucleotide variant not specified [RCV000613795] Chr1:6472973 [GRCh38]
Chr1:6533033 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.82C>T (p.Pro28Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000557335] Chr1:6475998 [GRCh38]
Chr1:6536058 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2698C>T (p.Arg900Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000535372] Chr1:6468138 [GRCh38]
Chr1:6528198 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.211-20C>T single nucleotide variant not specified [RCV000614487] Chr1:6475158 [GRCh38]
Chr1:6535218 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.99C>T (p.Pro33=) single nucleotide variant not specified [RCV000609218] Chr1:6475981 [GRCh38]
Chr1:6536041 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.540C>G (p.Pro180=) single nucleotide variant not specified [RCV000604487] Chr1:6474064 [GRCh38]
Chr1:6534124 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1707C>T (p.Asp569=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000540248] Chr1:6470329 [GRCh38]
Chr1:6530389 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1801-16C>A single nucleotide variant not specified [RCV000600093] Chr1:6469692 [GRCh38]
Chr1:6529752 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.168C>T (p.Gly56=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645413] Chr1:6475504 [GRCh38]
Chr1:6535564 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645416] Chr1:6470742 [GRCh38]
Chr1:6530802 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.931A>C (p.Asn311His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645418] Chr1:6473039 [GRCh38]
Chr1:6533099 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645419] Chr1:6477534 [GRCh38]
Chr1:6537594 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645422] Chr1:6473054 [GRCh38]
Chr1:6533114 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1610G>A (p.Arg537Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645424] Chr1:6470576 [GRCh38]
Chr1:6530636 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645425] Chr1:6468568 [GRCh38]
Chr1:6528628 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1513C>T (p.Pro505Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645426] Chr1:6470764 [GRCh38]
Chr1:6530824 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645429] Chr1:6471036 [GRCh38]
Chr1:6531096 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2728C>T (p.Pro910Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645432] Chr1:6468108 [GRCh38]
Chr1:6528168 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1575G>C (p.Val525=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000645446] Chr1:6470611 [GRCh38]
Chr1:6530671 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1681-8G>C single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001085333]|not provided [RCV000645457] Chr1:6470363 [GRCh38]
Chr1:6530423 [GRCh37]
Chr1:1p36.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_020631.5(PLEKHG5):c.1080+8G>C single nucleotide variant not provided [RCV000513300] Chr1:6472519 [GRCh38]
Chr1:6532579 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1038C>G (p.His346Gln) single nucleotide variant not provided [RCV000658273] Chr1:6472569 [GRCh38]
Chr1:6532629 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001265593.1(PLEKHG5):c.1645A>C (p.Met549Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000664240] Chr1:6470839 [GRCh38]
Chr1:6530899 [GRCh37]
Chr1:1p36.31
likely pathogenic
NM_020631.5(PLEKHG5):c.1783G>C (p.Glu595Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000692019]|not provided [RCV000658112] Chr1:6470253 [GRCh38]
Chr1:6530313 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001265593.1(PLEKHG5):c.265del (p.Arg89fs) deletion Spinal muscular atrophy, facioscapulohumeral type [RCV000664238] Chr1:6476022 [GRCh38]
Chr1:6536082 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.5(PLEKHG5):c.1748G>A (p.Arg583Gln) single nucleotide variant not provided [RCV000658486] Chr1:6470288 [GRCh38]
Chr1:6530348 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1264C>T (p.Leu422Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000685115] Chr1:6471505 [GRCh38]
Chr1:6531565 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_020631.5(PLEKHG5):c.1519G>A (p.Ala507Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000687496] Chr1:6470758 [GRCh38]
Chr1:6530818 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.286_288AAG[2] (p.Lys98del) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV000687595] Chr1:6475055..6475057 [GRCh38]
Chr1:6535115..6535117 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.607C>T (p.Arg203Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000685311] Chr1:6473439 [GRCh38]
Chr1:6533499 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.112_114GAG[8] (p.Glu42_Glu43dup) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV000685366] Chr1:6475950..6475951 [GRCh38]
Chr1:6536010..6536011 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000685826] Chr1:6468294 [GRCh38]
Chr1:6528354 [GRCh37]
Chr1:1p36.31
pathogenic
NM_001265594.2(PLEKHG5):c.2738-52G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000700735] Chr1:6467950 [GRCh38]
Chr1:6528010 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2524C>T (p.Arg842Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000704160] Chr1:6468312 [GRCh38]
Chr1:6528372 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1736C>T (p.Pro579Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000704474] Chr1:6470300 [GRCh38]
Chr1:6530360 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2683C>G (p.Pro895Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000704848] Chr1:6468153 [GRCh38]
Chr1:6528213 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001265594.2(PLEKHG5):c.2738-74A>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000693385] Chr1:6467972 [GRCh38]
Chr1:6528032 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1286G>C (p.Gly429Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000690676] Chr1:6471096 [GRCh38]
Chr1:6531156 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2213T>A (p.Met738Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000693543] Chr1:6469078 [GRCh38]
Chr1:6529138 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1510G>A (p.Glu504Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000688509] Chr1:6470767 [GRCh38]
Chr1:6530827 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.34C>T (p.Pro12Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000689228] Chr1:6477538 [GRCh38]
Chr1:6537598 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.823G>A (p.Gly275Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000692082] Chr1:6473147 [GRCh38]
Chr1:6533207 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.89G>A (p.Arg30His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000689548] Chr1:6475991 [GRCh38]
Chr1:6536051 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.47C>G (p.Ser16Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000686565] Chr1:6476033 [GRCh38]
Chr1:6536093 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.707C>T (p.Thr236Ile) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000686737] Chr1:6473339 [GRCh38]
Chr1:6533399 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.86C>T (p.Pro29Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000697248] Chr1:6475994 [GRCh38]
Chr1:6536054 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.415G>C (p.Gly139Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000701580] Chr1:6474475 [GRCh38]
Chr1:6534535 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1804G>A (p.Asp602Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000689649] Chr1:6469673 [GRCh38]
Chr1:6529733 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1295T>C (p.Phe432Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000687738] Chr1:6471087 [GRCh38]
Chr1:6531147 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2432G>A (p.Arg811His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000702527] Chr1:6468404 [GRCh38]
Chr1:6528464 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2578C>T (p.Arg860Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000690594] Chr1:6468258 [GRCh38]
Chr1:6528318 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.495G>C (p.Lys165Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000693423] Chr1:6474109 [GRCh38]
Chr1:6534169 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.784G>C (p.Ala262Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000690845] Chr1:6473262 [GRCh38]
Chr1:6533322 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.307G>T (p.Val103Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000705136] Chr1:6474583 [GRCh38]
Chr1:6534643 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001265594.2(PLEKHG5):c.2738-5C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000695861] Chr1:6467903 [GRCh38]
Chr1:6527963 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2975G>A (p.Arg992Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000688782] Chr1:6467861 [GRCh38]
Chr1:6527921 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.767C>T (p.Ser256Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000703753] Chr1:6473279 [GRCh38]
Chr1:6533339 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.32-36.23(chr1:4965631-8106987)x1 copy number loss not provided [RCV000736366] Chr1:4965631..8106987 [GRCh37]
Chr1:1p36.32-36.23
pathogenic
GRCh37/hg19 1p36.31(chr1:6456472-6560363)x3 copy number gain not provided [RCV000736376] Chr1:6456472..6560363 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.31(chr1:6481916-6560363)x3 copy number gain not provided [RCV000736377] Chr1:6481916..6560363 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.31(chr1:6279370-6568387)x3 copy number gain not provided [RCV000736369] Chr1:6279370..6568387 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
GRCh37/hg19 1p36.31(chr1:6501100-6568387)x1 copy number loss not provided [RCV000748865] Chr1:6501100..6568387 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.31(chr1:6523430-6534226)x3 copy number gain not provided [RCV000748866] Chr1:6523430..6534226 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.31(chr1:6523430-6534600)x3 copy number gain not provided [RCV000748867] Chr1:6523430..6534600 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.31(chr1:6523430-6560363)x3 copy number gain not provided [RCV000748868] Chr1:6523430..6560363 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.1598_1612del (p.Gln533_Arg537del) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV000823148]|not provided [RCV000761630] Chr1:6470574..6470588 [GRCh38]
Chr1:6530634..6530648 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.633G>T (p.Gly211=) single nucleotide variant not provided [RCV000756550] Chr1:6473413 [GRCh38]
Chr1:6533473 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.211-3C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001066021] Chr1:6475141 [GRCh38]
Chr1:6535201 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_020631.5(PLEKHG5):c.534G>T (p.Gly178=) single nucleotide variant not provided [RCV000945094] Chr1:6474070 [GRCh38]
Chr1:6534130 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2049+10G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000981587] Chr1:6469325 [GRCh38]
Chr1:6529385 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.399C>T (p.Phe133=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000946320] Chr1:6474491 [GRCh38]
Chr1:6534551 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.765C>T (p.Ser255=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000982328] Chr1:6473281 [GRCh38]
Chr1:6533341 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.984+8C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000964713] Chr1:6472978 [GRCh38]
Chr1:6533038 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.288G>T (p.Lys96Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000950961] Chr1:6475061 [GRCh38]
Chr1:6535121 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1302C>T (p.Pro434=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000878377] Chr1:6471080 [GRCh38]
Chr1:6531140 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.6(PLEKHG5):c.568C>T (p.Arg190Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001055205] Chr1:6474036 [GRCh38]
Chr1:6534096 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1897G>A (p.Val633Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001041430] Chr1:6469580 [GRCh38]
Chr1:6529640 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.608G>A (p.Arg203His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001055915] Chr1:6473438 [GRCh38]
Chr1:6533498 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.-88+6188G>A single nucleotide variant none provided [RCV001287209] Chr1:6485449 [GRCh38]
Chr1:6545509 [GRCh37]
Chr1:1p36.31
benign
NM_020631.6(PLEKHG5):c.2163G>T (p.Glu721Asp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001058587] Chr1:6469128 [GRCh38]
Chr1:6529188 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.550C>T (p.Arg184Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001056413] Chr1:6474054 [GRCh38]
Chr1:6534114 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1528G>A (p.Ala510Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001038025]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101847] Chr1:6470749 [GRCh38]
Chr1:6530809 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2068C>T (p.Arg690Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001050808] Chr1:6469223 [GRCh38]
Chr1:6529283 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.91A>G (p.Thr31Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001052594] Chr1:6475989 [GRCh38]
Chr1:6536049 [GRCh37]
Chr1:1p36.31
uncertain significance
NC_000001.11:g.6520369C>T single nucleotide variant not provided [RCV000826323] Chr1:6520369 [GRCh38]
Chr1:6580429 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.745C>T (p.Arg249Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000808485] Chr1:6473301 [GRCh38]
Chr1:6533361 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_198681.4(PLEKHG5):c.-164-994G>C single nucleotide variant not provided [RCV000826692] Chr1:6497563 [GRCh38]
Chr1:6557623 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2892C>G (p.Ala964=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000876262] Chr1:6467944 [GRCh38]
Chr1:6528004 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2811C>T (p.Ser937=) single nucleotide variant not provided [RCV000945749] Chr1:6468025 [GRCh38]
Chr1:6528085 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2598G>A (p.Leu866=) single nucleotide variant not provided [RCV000966640] Chr1:6468238 [GRCh38]
Chr1:6528298 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1132-6G>C single nucleotide variant not provided [RCV000928442] Chr1:6471643 [GRCh38]
Chr1:6531703 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1635C>T (p.Ile545=) single nucleotide variant not provided [RCV000919493] Chr1:6470551 [GRCh38]
Chr1:6530611 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2244G>A (p.Gln748=) single nucleotide variant not provided [RCV000983282] Chr1:6469047 [GRCh38]
Chr1:6529107 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.302+10G>T single nucleotide variant not provided [RCV000896891] Chr1:6475037 [GRCh38]
Chr1:6535097 [GRCh37]
Chr1:1p36.31
benign
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31
pathogenic
NM_020631.5(PLEKHG5):c.2244G>C (p.Gln748His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000804404] Chr1:6469047 [GRCh38]
Chr1:6529107 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.80G>A (p.Cys27Tyr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000796910] Chr1:6476000 [GRCh38]
Chr1:6536060 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1360C>T (p.Arg454Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000819278] Chr1:6471022 [GRCh38]
Chr1:6531082 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1080+131G>A single nucleotide variant not provided [RCV000839539] Chr1:6472396 [GRCh38]
Chr1:6532456 [GRCh37]
Chr1:1p36.31
likely benign
NC_000001.11:g.6520190C>T single nucleotide variant not provided [RCV000839558] Chr1:6520190 [GRCh38]
Chr1:6580250 [GRCh37]
Chr1:1p36.31
benign
NC_000001.11:g.6520176G>C single nucleotide variant not provided [RCV000839559] Chr1:6520176 [GRCh38]
Chr1:6580236 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.1304A>G (p.Tyr435Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000823331] Chr1:6471078 [GRCh38]
Chr1:6531138 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.124G>C (p.Glu42Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000823592] Chr1:6475956 [GRCh38]
Chr1:6536016 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_198681.4(PLEKHG5):c.-164-200C>G single nucleotide variant not provided [RCV000837991] Chr1:6496769 [GRCh38]
Chr1:6556829 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000807765]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097971] Chr1:6467837 [GRCh38]
Chr1:6527897 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1139C>T (p.Ala380Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000794434] Chr1:6471630 [GRCh38]
Chr1:6531690 [GRCh37]
Chr1:1p36.31
pathogenic|uncertain significance
NM_020631.5(PLEKHG5):c.569G>A (p.Arg190His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000811441] Chr1:6474035 [GRCh38]
Chr1:6534095 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2438G>A (p.Cys813Tyr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000807953] Chr1:6468398 [GRCh38]
Chr1:6528458 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.3012-79C>T single nucleotide variant not provided [RCV000836451] Chr1:6467651 [GRCh38]
Chr1:6527711 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.998G>A (p.Arg333Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000816600] Chr1:6472609 [GRCh38]
Chr1:6532669 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2789G>T (p.Arg930Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000803602] Chr1:6468047 [GRCh38]
Chr1:6528107 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_198681.4(PLEKHG5):c.-164-831T>C single nucleotide variant not provided [RCV000838634] Chr1:6497400 [GRCh38]
Chr1:6557460 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2664G>T (p.Gly888=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000812427] Chr1:6468172 [GRCh38]
Chr1:6528232 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1800+107C>T single nucleotide variant not provided [RCV000826713] Chr1:6470129 [GRCh38]
Chr1:6530189 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.591+52G>A single nucleotide variant not provided [RCV000835073] Chr1:6473961 [GRCh38]
Chr1:6534021 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.591+71G>A single nucleotide variant not provided [RCV000835074] Chr1:6473942 [GRCh38]
Chr1:6534002 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.592-75C>A single nucleotide variant not provided [RCV000835075] Chr1:6473529 [GRCh38]
Chr1:6533589 [GRCh37]
Chr1:1p36.31
likely benign
NM_198681.4(PLEKHG5):c.-503G>A single nucleotide variant not provided [RCV000826691] Chr1:6519783 [GRCh38]
Chr1:6579843 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.303-134C>T single nucleotide variant not provided [RCV000826712] Chr1:6474721 [GRCh38]
Chr1:6534781 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2138A>C (p.Glu713Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000808505] Chr1:6469153 [GRCh38]
Chr1:6529213 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.-88+5868C>G single nucleotide variant not provided [RCV000826714] Chr1:6485769 [GRCh38]
Chr1:6545829 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.12T>C (p.Asp4=) single nucleotide variant not provided [RCV000827345] Chr1:6477560 [GRCh38]
Chr1:6537620 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.591+28G>C single nucleotide variant not provided [RCV000835481] Chr1:6473985 [GRCh38]
Chr1:6534045 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.1282-111T>C single nucleotide variant not provided [RCV000835482] Chr1:6471211 [GRCh38]
Chr1:6531271 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.2042A>G (p.Asn681Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000809080] Chr1:6469342 [GRCh38]
Chr1:6529402 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2428G>T (p.Gly810Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000793333] Chr1:6468408 [GRCh38]
Chr1:6528468 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.431G>A (p.Arg144His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000800871] Chr1:6474459 [GRCh38]
Chr1:6534519 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.84G>A (p.Pro28=) single nucleotide variant not provided [RCV000841820] Chr1:6475996 [GRCh38]
Chr1:6536056 [GRCh37]
Chr1:1p36.31
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_020631.5(PLEKHG5):c.2279C>T (p.Ala760Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000797313] Chr1:6468557 [GRCh38]
Chr1:6528617 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV000820951] Chr1:6474061..6474151 [GRCh38]
Chr1:6534121..6534211 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000821154] Chr1:6471599 [GRCh38]
Chr1:6531659 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.995G>A (p.Arg332Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000821433] Chr1:6472612 [GRCh38]
Chr1:6532672 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.148G>C (p.Gly50Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000818485] Chr1:6475932 [GRCh38]
Chr1:6535992 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2575C>T (p.Arg859Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000811234]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101746] Chr1:6468261 [GRCh38]
Chr1:6528321 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1112A>C (p.Glu371Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000811281] Chr1:6471777 [GRCh38]
Chr1:6531837 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1393-24dup duplication not provided [RCV000829712] Chr1:6470905..6470906 [GRCh38]
Chr1:6530965..6530966 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.1414T>G (p.Cys472Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000793637] Chr1:6470863 [GRCh38]
Chr1:6530923 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001265594.2(PLEKHG5):c.2738-6G>C single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000810357] Chr1:6467904 [GRCh38]
Chr1:6527964 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1417C>T (p.Gln473Ter) single nucleotide variant Juvenile amyotrophic lateral sclerosis [RCV001095532] Chr1:6470860 [GRCh38]
Chr1:6530920 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.1889C>A (p.Pro630His) single nucleotide variant Juvenile amyotrophic lateral sclerosis [RCV001095533] Chr1:6469588 [GRCh38]
Chr1:6529648 [GRCh37]
Chr1:1p36.31
likely pathogenic
NM_001042664.1(PLEKHG5):c.*1332C>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097875] Chr1:6466231 [GRCh38]
Chr1:6526291 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.3012-113G>A single nucleotide variant not provided [RCV000826715] Chr1:6467685 [GRCh38]
Chr1:6527745 [GRCh37]
Chr1:1p36.31
benign
NC_000001.11:g.6520337C>T single nucleotide variant not provided [RCV000830488] Chr1:6520337 [GRCh38]
Chr1:6580397 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.1280T>C (p.Met427Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000814924] Chr1:6471489 [GRCh38]
Chr1:6531549 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.74G>C (p.Arg25Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000794471] Chr1:6476006 [GRCh38]
Chr1:6536066 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2421G>A (p.Pro807=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000816164] Chr1:6468415 [GRCh38]
Chr1:6528475 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.768C>T (p.Ser256=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000875079] Chr1:6473278 [GRCh38]
Chr1:6533338 [GRCh37]
Chr1:1p36.31
likely benign
NM_198681.4(PLEKHG5):c.-313C>G single nucleotide variant not provided [RCV000826694] Chr1:6519593 [GRCh38]
Chr1:6579653 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.59G>A (p.Arg20Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000794914] Chr1:6476021 [GRCh38]
Chr1:6536081 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2411C>T (p.Pro804Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000797171] Chr1:6468425 [GRCh38]
Chr1:6528485 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.903G>A (p.Glu301=) single nucleotide variant not provided [RCV000920277] Chr1:6473067 [GRCh38]
Chr1:6533127 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2215C>T (p.Arg739Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000792452] Chr1:6469076 [GRCh38]
Chr1:6529136 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_198681.4(PLEKHG5):c.-181C>G single nucleotide variant not provided [RCV000829637] Chr1:6519461 [GRCh38]
Chr1:6579521 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2827G>A (p.Gly943Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000800764] Chr1:6468009 [GRCh38]
Chr1:6528069 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_198681.4(PLEKHG5):c.-164-975G>A single nucleotide variant not provided [RCV000839057] Chr1:6497544 [GRCh38]
Chr1:6557604 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.-87-95_-87-94insATCCATTAGGGAGAGCTGGCCCAGGTCGGAGC insertion not provided [RCV000832324] Chr1:6477752..6477753 [GRCh38]
Chr1:6537812..6537813 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.302+176T>C single nucleotide variant not provided [RCV000832325] Chr1:6474871 [GRCh38]
Chr1:6534931 [GRCh37]
Chr1:1p36.31
benign
NM_020631.5(PLEKHG5):c.594C>G (p.Ala198=) single nucleotide variant not provided [RCV000980637] Chr1:6473452 [GRCh38]
Chr1:6533512 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.586A>G (p.Ile196Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000809543] Chr1:6474018 [GRCh38]
Chr1:6534078 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.3011+6T>C single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000795588] Chr1:6467819 [GRCh38]
Chr1:6527879 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.1392+40G>C single nucleotide variant not provided [RCV000836059] Chr1:6470950 [GRCh38]
Chr1:6531010 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.6(PLEKHG5):c.440-11C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099942] Chr1:6474175 [GRCh38]
Chr1:6534235 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2332G>A (p.Gly778Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096331] Chr1:6468504 [GRCh38]
Chr1:6528564 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001042664.1(PLEKHG5):c.*1374C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097873] Chr1:6466189 [GRCh38]
Chr1:6526249 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.*63C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097970] Chr1:6467500 [GRCh38]
Chr1:6527560 [GRCh37]
Chr1:1p36.31
benign
NM_020631.6(PLEKHG5):c.-54C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096525] Chr1:6477625 [GRCh38]
Chr1:6537685 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1843del (p.Thr615fs) deletion not provided [RCV001008354] Chr1:6469634 [GRCh38]
Chr1:6529694 [GRCh37]
Chr1:1p36.31
likely pathogenic
NM_020631.6(PLEKHG5):c.-88+6198G>T single nucleotide variant not provided [RCV000993870] Chr1:6485439 [GRCh38]
Chr1:6545499 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.400G>A (p.Glu134Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001065589] Chr1:6474490 [GRCh38]
Chr1:6534550 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.517C>T (p.Arg173Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001043725] Chr1:6474087 [GRCh38]
Chr1:6534147 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001065654] Chr1:6470248 [GRCh38]
Chr1:6530308 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.509C>A (p.Pro170Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001210755] Chr1:6474095 [GRCh38]
Chr1:6534155 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2969G>A (p.Arg990Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001046114] Chr1:6467867 [GRCh38]
Chr1:6527927 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001231144] Chr1:6475078 [GRCh38]
Chr1:6535138 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1681-3C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001209443] Chr1:6470358 [GRCh38]
Chr1:6530418 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1118G>A (p.Gly373Glu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001239894] Chr1:6471771 [GRCh38]
Chr1:6531831 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV001237754] Chr1:6471622..6471623 [GRCh38]
Chr1:6531682..6531683 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.1979G>A (p.Gly660Glu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001209964] Chr1:6469405 [GRCh38]
Chr1:6529465 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001240535] Chr1:6473053 [GRCh38]
Chr1:6533113 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1537G>T (p.Ala513Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001210081] Chr1:6470740 [GRCh38]
Chr1:6530800 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.269A>G (p.Glu90Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001210300] Chr1:6475080 [GRCh38]
Chr1:6535140 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001225949] Chr1:6473019 [GRCh38]
Chr1:6533079 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.411G>T (p.Arg137Ser) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001329767]|Distal spinal muscular atrophy, autosomal recessive 4 [RCV001235905] Chr1:6474479 [GRCh38]
Chr1:6534539 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1448A>G (p.Lys483Arg) single nucleotide variant not provided [RCV000993867] Chr1:6470829 [GRCh38]
Chr1:6530889 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_198681.3(PLEKHG5):c.69C>T (p.Asp23=) single nucleotide variant not provided [RCV000993868] Chr1:6496568 [GRCh38]
Chr1:6556628 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001042664.1(PLEKHG5):c.*816C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101658] Chr1:6466747 [GRCh38]
Chr1:6526807 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.*285C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096225] Chr1:6467278 [GRCh38]
Chr1:6527338 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2034C>T (p.Thr678=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000873740] Chr1:6469350 [GRCh38]
Chr1:6529410 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2235C>T (p.Pro745=) single nucleotide variant not provided [RCV000932315] Chr1:6469056 [GRCh38]
Chr1:6529116 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1545C>T (p.Ile515=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000929694] Chr1:6470641 [GRCh38]
Chr1:6530701 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.834C>T (p.His278=) single nucleotide variant not provided [RCV000927710] Chr1:6473136 [GRCh38]
Chr1:6533196 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2916C>G (p.Pro972=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000953882] Chr1:6467920 [GRCh38]
Chr1:6527980 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1443G>A (p.Leu481=) single nucleotide variant not provided [RCV000932058] Chr1:6470834 [GRCh38]
Chr1:6530894 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1935G>A (p.Gly645=) single nucleotide variant not provided [RCV000920300] Chr1:6469449 [GRCh38]
Chr1:6529509 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.985-6C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000876976] Chr1:6472628 [GRCh38]
Chr1:6532688 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2676T>C (p.His892=) single nucleotide variant not provided [RCV000978879] Chr1:6468160 [GRCh38]
Chr1:6528220 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.2056C>T (p.Leu686=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000917948] Chr1:6469235 [GRCh38]
Chr1:6529295 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001222295] Chr1:6470838..6470839 [GRCh38]
Chr1:6530898..6530899 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.1715C>T (p.Ala572Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001218946] Chr1:6470321 [GRCh38]
Chr1:6530381 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001236437] Chr1:6473009 [GRCh38]
Chr1:6533069 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2759C>T (p.Pro920Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001219891] Chr1:6468077 [GRCh38]
Chr1:6528137 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1131+5G>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001223186] Chr1:6471753 [GRCh38]
Chr1:6531813 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.903_923del (p.Glu301_Glu307del) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001245146] Chr1:6473047..6473067 [GRCh38]
Chr1:6533107..6533127 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_001042664.1(PLEKHG5):c.*1087G>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099672] Chr1:6466476 [GRCh38]
Chr1:6526536 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1251G>T (p.Gln417His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001245498] Chr1:6471518 [GRCh38]
Chr1:6531578 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2812G>A (p.Gly938Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001243696] Chr1:6468024 [GRCh38]
Chr1:6528084 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2161G>A (p.Glu721Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001045166] Chr1:6469130 [GRCh38]
Chr1:6529190 [GRCh37]
Chr1:1p36.31
uncertain significance
NC_000001.11:g.(?_6474003)_(6477668_?)del deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001033394] Chr1:6534063..6537728 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.-113C>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096527] Chr1:6491662 [GRCh38]
Chr1:6551722 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001048908] Chr1:6473266..6473267 [GRCh38]
Chr1:6533326..6533327 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.565A>G (p.Ser189Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001210313] Chr1:6474039 [GRCh38]
Chr1:6534099 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.5(PLEKHG5):c.2826C>T (p.Val942=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099762]|not provided [RCV000935526] Chr1:6468010 [GRCh38]
Chr1:6528070 [GRCh37]
Chr1:1p36.31
likely benign|uncertain significance
NM_020631.5(PLEKHG5):c.777C>T (p.Ser259=) single nucleotide variant not provided [RCV000934669] Chr1:6473269 [GRCh38]
Chr1:6533329 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.5(PLEKHG5):c.1614G>T (p.Leu538=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV000912758] Chr1:6470572 [GRCh38]
Chr1:6530632 [GRCh37]
Chr1:1p36.31
likely benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23
pathogenic
NM_020631.6(PLEKHG5):c.2642G>A (p.Ser881Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001071098] Chr1:6468194 [GRCh38]
Chr1:6528254 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2209A>G (p.Ile737Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001071487] Chr1:6469082 [GRCh38]
Chr1:6529142 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2569C>T (p.Arg857Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001035886]|none provided [RCV001287138] Chr1:6468267 [GRCh38]
Chr1:6528327 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_003790.3(TNFRSF25):c.-51A>G single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097872] Chr1:6466158 [GRCh38]
Chr1:6526218 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1725T>A (p.Pro575=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001036133] Chr1:6470311 [GRCh38]
Chr1:6530371 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1703T>C (p.Leu568Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001099857] Chr1:6470333 [GRCh38]
Chr1:6530393 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2149G>A (p.Glu717Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001046210] Chr1:6469142 [GRCh38]
Chr1:6529202 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1345A>G (p.Met449Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001069258] Chr1:6471037 [GRCh38]
Chr1:6531097 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1397C>T (p.Ala466Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101848] Chr1:6470880 [GRCh38]
Chr1:6530940 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1421G>T (p.Arg474Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001219679] Chr1:6470856 [GRCh38]
Chr1:6530916 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2228G>C (p.Gly743Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001052722] Chr1:6469063 [GRCh38]
Chr1:6529123 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.*304C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096224] Chr1:6467259 [GRCh38]
Chr1:6527319 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.*236G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096226] Chr1:6467327 [GRCh38]
Chr1:6527387 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1966C>T (p.His656Tyr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001207522] Chr1:6469418 [GRCh38]
Chr1:6529478 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.773C>T (p.Pro258Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001027499] Chr1:6473273 [GRCh38]
Chr1:6533333 [GRCh37]
Chr1:1p36.31
likely pathogenic
NM_020631.6(PLEKHG5):c.-66C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096526] Chr1:6477637 [GRCh38]
Chr1:6537697 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.422A>G (p.His141Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001218926] Chr1:6474468 [GRCh38]
Chr1:6534528 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001061161] Chr1:6470824..6470825 [GRCh38]
Chr1:6530884..6530885 [GRCh37]
Chr1:1p36.31
pathogenic
NM_001042664.1(PLEKHG5):c.*1333C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097874] Chr1:6466230 [GRCh38]
Chr1:6526290 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1604G>A (p.Arg535Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001053415] Chr1:6470582 [GRCh38]
Chr1:6530642 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001233692] Chr1:6474087 [GRCh38]
Chr1:6534147 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs) deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001036975] Chr1:6472605 [GRCh38]
Chr1:6532665 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.527G>C (p.Gly176Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001058021] Chr1:6474077 [GRCh38]
Chr1:6534137 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2473A>G (p.Thr825Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001236031] Chr1:6468363 [GRCh38]
Chr1:6528423 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.701G>C (p.Gly234Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001234301] Chr1:6473345 [GRCh38]
Chr1:6533405 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.654G>C (p.Gln218His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001215226] Chr1:6473392 [GRCh38]
Chr1:6533452 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.58C>T (p.Arg20Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001210752] Chr1:6476022 [GRCh38]
Chr1:6536082 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2791G>C (p.Gly931Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001213314] Chr1:6468045 [GRCh38]
Chr1:6528105 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2968C>T (p.Arg990Ter) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001218549] Chr1:6467868 [GRCh38]
Chr1:6527928 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2577C>T (p.Arg859=) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001101745] Chr1:6468259 [GRCh38]
Chr1:6528319 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1469A>T (p.Lys490Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001214250] Chr1:6470808 [GRCh38]
Chr1:6530868 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2989C>G (p.Leu997Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001064040] Chr1:6467847 [GRCh38]
Chr1:6527907 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1067G>A (p.Arg356Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001036132] Chr1:6472540 [GRCh38]
Chr1:6532600 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.259A>T (p.Ile87Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001055530] Chr1:6475090 [GRCh38]
Chr1:6535150 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.*159G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001097969] Chr1:6467404 [GRCh38]
Chr1:6527464 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2419C>T (p.Pro807Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001202592] Chr1:6468417 [GRCh38]
Chr1:6528477 [GRCh37]
Chr1:1p36.31
uncertain significance
NC_000001.11:g.(?_6467553)_(6477668_?)del deletion Distal spinal muscular atrophy, autosomal recessive 4 [RCV001032933] Chr1:6527613..6537728 [GRCh37]
Chr1:1p36.31
pathogenic
NM_001042664.1(PLEKHG5):c.*573G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001096223] Chr1:6466990 [GRCh38]
Chr1:6527050 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001062978] Chr1:6473075 [GRCh38]
Chr1:6533135 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2879T>G (p.Leu960Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001063378] Chr1:6467957 [GRCh38]
Chr1:6528017 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2744G>A (p.Arg915Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001231075] Chr1:6468092 [GRCh38]
Chr1:6528152 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.112GAG[9] (p.Glu41_Glu43dup) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV001257253] Chr1:6475950..6475951 [GRCh38]
Chr1:6536010..6536011 [GRCh37]
Chr1:1p36.31
uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23
likely pathogenic
NM_020631.6(PLEKHG5):c.2818G>A (p.Gly940Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001294756] Chr1:6468018 [GRCh38]
Chr1:6528078 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001302683] Chr1:6472553 [GRCh38]
Chr1:6532613 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.-88+6328C>T single nucleotide variant none provided [RCV001286401] Chr1:6485309 [GRCh38]
Chr1:6545369 [GRCh37]
Chr1:1p36.31
benign
NM_020631.6(PLEKHG5):c.1471T>A (p.Tyr491Asn) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001329764] Chr1:6470806 [GRCh38]
Chr1:6530866 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.155G>A (p.Arg52Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001300477] Chr1:6475517 [GRCh38]
Chr1:6535577 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.919G>A (p.Glu307Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001307837] Chr1:6473051 [GRCh38]
Chr1:6533111 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.95G>C (p.Ser32Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001316523] Chr1:6475985 [GRCh38]
Chr1:6536045 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1080+5G>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001338797] Chr1:6472522 [GRCh38]
Chr1:6532582 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1219G>T (p.Glu407Ter) single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001293935] Chr1:6471550 [GRCh38]
Chr1:6531610 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.100G>A (p.Ala34Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001313288] Chr1:6475980 [GRCh38]
Chr1:6536040 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1183C>G (p.Arg395Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001299819] Chr1:6471586 [GRCh38]
Chr1:6531646 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1145G>C (p.Arg382Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001343737] Chr1:6471624 [GRCh38]
Chr1:6531684 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.826A>C (p.Lys276Gln) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001300750] Chr1:6473144 [GRCh38]
Chr1:6533204 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.140A>C (p.Asp47Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001351748] Chr1:6475940 [GRCh38]
Chr1:6536000 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1930C>G (p.Pro644Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001341470] Chr1:6469547 [GRCh38]
Chr1:6529607 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1392+8C>T single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001326495] Chr1:6470982 [GRCh38]
Chr1:6531042 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1004G>T (p.Cys335Phe) single nucleotide variant not provided [RCV001311613] Chr1:6472603 [GRCh38]
Chr1:6532663 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2274C>G (p.Thr758=) single nucleotide variant none provided [RCV001285072] Chr1:6468562 [GRCh38]
Chr1:6528622 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.6(PLEKHG5):c.884A>T (p.Asp295Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001298150] Chr1:6473086 [GRCh38]
Chr1:6533146 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2978C>A (p.Thr993Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001348322] Chr1:6467858 [GRCh38]
Chr1:6527918 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1520C>T (p.Ala507Val) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001315444] Chr1:6470757 [GRCh38]
Chr1:6530817 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.19G>A (p.Val7Ile) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001344732] Chr1:6477553 [GRCh38]
Chr1:6537613 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1393-16C>G single nucleotide variant Charcot-Marie-Tooth disease, recessive intermediate c [RCV001329763] Chr1:6470900 [GRCh38]
Chr1:6530960 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2940_2941del (p.His980fs) microsatellite Charcot-Marie-Tooth disease, recessive intermediate c [RCV001329766] Chr1:6467895..6467896 [GRCh38]
Chr1:6527955..6527956 [GRCh37]
Chr1:1p36.31
pathogenic
NM_020631.6(PLEKHG5):c.2894C>T (p.Ser965Phe) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001315539] Chr1:6467942 [GRCh38]
Chr1:6528002 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1161C>G (p.Ile387Met) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001321774] Chr1:6471608 [GRCh38]
Chr1:6531668 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1955T>C (p.Leu652Pro) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001338674] Chr1:6469429 [GRCh38]
Chr1:6529489 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1934G>C (p.Gly645Ala) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001342197] Chr1:6469450 [GRCh38]
Chr1:6529510 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2801G>C (p.Ser934Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001297407] Chr1:6468035 [GRCh38]
Chr1:6528095 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1588C>T (p.Arg530Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001345136] Chr1:6470598 [GRCh38]
Chr1:6530658 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2513A>G (p.Glu838Gly) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001345197] Chr1:6468323 [GRCh38]
Chr1:6528383 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.23G>A (p.Arg8His) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001314144] Chr1:6477549 [GRCh38]
Chr1:6537609 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.559G>A (p.Ala187Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001322440] Chr1:6474045 [GRCh38]
Chr1:6534105 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1162C>T (p.Pro388Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001347787] Chr1:6471607 [GRCh38]
Chr1:6531667 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1200C>G (p.Ser400Arg) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001348174] Chr1:6471569 [GRCh38]
Chr1:6531629 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.984+3G>A single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001351665] Chr1:6472983 [GRCh38]
Chr1:6533043 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2539C>T (p.Pro847Ser) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001321328] Chr1:6468297 [GRCh38]
Chr1:6528357 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2173G>A (p.Glu725Lys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001314708] Chr1:6469118 [GRCh38]
Chr1:6529178 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1710G>A (p.Leu570=) single nucleotide variant none provided [RCV001285503] Chr1:6470326 [GRCh38]
Chr1:6530386 [GRCh37]
Chr1:1p36.31
likely benign
NM_020631.6(PLEKHG5):c.733C>T (p.Arg245Trp) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001340485] Chr1:6473313 [GRCh38]
Chr1:6533373 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.889G>A (p.Asp297Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001352024] Chr1:6473081 [GRCh38]
Chr1:6533141 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1231C>T (p.Arg411Cys) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001338303] Chr1:6471538 [GRCh38]
Chr1:6531598 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.2915C>T (p.Pro972Leu) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001298639] Chr1:6467921 [GRCh38]
Chr1:6527981 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.367G>A (p.Asp123Asn) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001308186] Chr1:6474523 [GRCh38]
Chr1:6534583 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.1868G>C (p.Arg623Thr) single nucleotide variant Distal spinal muscular atrophy, autosomal recessive 4 [RCV001327137] Chr1:6469609 [GRCh38]
Chr1:6529669 [GRCh37]
Chr1:1p36.31
uncertain significance
NM_020631.6(PLEKHG5):c.567CCG[1] (p.Arg191del) microsatellite Distal spinal muscular atrophy, autosomal recessive 4 [RCV001339835] Chr1:6474032..6474034 [GRCh38]
Chr1:6534092..6534094 [GRCh37]
Chr1:1p36.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29105 AgrOrtholog
COSMIC PLEKHG5 COSMIC
Ensembl Genes ENSG00000171680 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000344570 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366954 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366957 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000366961 UniProtKB/Swiss-Prot
  ENSP00000366969 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000366977 UniProtKB/TrEMBL
  ENSP00000383704 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383706 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439625 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441445 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500749 UniProtKB/TrEMBL
  ENSP00000501611 UniProtKB/TrEMBL
  ENSP00000501925 UniProtKB/Swiss-Prot
  ENSP00000502132 UniProtKB/TrEMBL
  ENSP00000502459 UniProtKB/TrEMBL
  ENSP00000502684 UniProtKB/TrEMBL
  ENSP00000502687 UniProtKB/TrEMBL
  ENSP00000502810 UniProtKB/TrEMBL
  ENSP00000502815 UniProtKB/TrEMBL
Ensembl Transcript ENST00000340850 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377725 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377728 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000377732 UniProtKB/Swiss-Prot
  ENST00000377740 ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000377748 UniProtKB/TrEMBL
  ENST00000400913 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000400915 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535355 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000537245 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000673471 UniProtKB/TrEMBL
  ENST00000674790 UniProtKB/TrEMBL
  ENST00000675093 UniProtKB/TrEMBL
  ENST00000675123 UniProtKB/TrEMBL
  ENST00000675548 UniProtKB/TrEMBL
  ENST00000675694 UniProtKB/Swiss-Prot
  ENST00000675976 UniProtKB/TrEMBL
  ENST00000676255 UniProtKB/TrEMBL
  ENST00000676287 UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171680 GTEx
HGNC ID HGNC:29105 ENTREZGENE
Human Proteome Map PLEKHG5 Human Proteome Map
InterPro DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKHG5/7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57449 UniProtKB/Swiss-Prot
NCBI Gene 57449 ENTREZGENE
OMIM 611067 OMIM
  611101 OMIM
  615376 OMIM
PANTHER PTHR13217 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671164 PharmGKB
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZHW8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF22_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG76_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGZ5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHD3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHJ1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHR5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHS0_HUMAN UniProtKB/TrEMBL
  A0A7I2PMD6_HUMAN UniProtKB/TrEMBL
  O94827 ENTREZGENE, UniProtKB/Swiss-Prot
  Q5SY18_HUMAN UniProtKB/TrEMBL
UniProt Secondary B3KU07 UniProtKB/Swiss-Prot
  B7Z2M3 UniProtKB/Swiss-Prot
  B7Z5X2 UniProtKB/Swiss-Prot
  F5GZ21 UniProtKB/Swiss-Prot
  F5H1I0 UniProtKB/Swiss-Prot
  Q5SY17 UniProtKB/Swiss-Prot
  Q5T8W5 UniProtKB/Swiss-Prot
  Q5T8W9 UniProtKB/Swiss-Prot
  Q6ZNM0 UniProtKB/Swiss-Prot
  Q7Z436 UniProtKB/Swiss-Prot
  Q86YD8 UniProtKB/Swiss-Prot
  Q96BS1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLEKHG5  pleckstrin homology and RhoGEF domain containing G5    pleckstrin homology domain containing, family G (with RhoGef domain) member 5  Symbol and/or name change 5135510 APPROVED