VAPB (VAMP associated protein B and C) - Rat Genome Database

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Gene: VAPB (VAMP associated protein B and C) Homo sapiens
Analyze
Symbol: VAPB
Name: VAMP associated protein B and C
RGD ID: 68452
HGNC Page HGNC
Description: Enables several functions, including FFAT motif binding activity; protein dimerization activity; and tubulin binding activity. Involved in several processes, including IRE1-mediated unfolded protein response; modulation by host of viral process; and negative regulation by virus of viral protein levels in host cell. Located in Golgi apparatus and endoplasmic reticulum membrane. Implicated in amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 8; autosomal dominant adult-onset proximal spinal muscular atrophy; and spinal muscular atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ALS8; VAMP (vesicle-associated membrane protein)-associated protein B and C; VAMP-associated 33 kDa protein; VAMP-associated protein B; VAMP-associated protein B/C; VAMP-associated protein C; VAMP-B; VAMP-B/VAMP-C; VAMP-C; VAP-B; VAP-B/VAP-C; VAP-C; vesicle-associated membrane protein, associated protein b and c; vesicle-associated membrane protein-associated protein B/C
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 Ensembl2058,389,229 - 58,451,101 (+)EnsemblGRCh38hg38GRCh38
GRCh382058,389,211 - 58,451,101 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372056,964,285 - 57,026,157 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362056,397,651 - 56,455,369 (+)NCBINCBI36hg18NCBI36
Build 342056,397,650 - 56,455,367NCBI
Celera2053,704,711 - 53,762,426 (+)NCBI
Cytogenetic Map20q13.32NCBI
HuRef2053,747,058 - 53,809,032 (+)NCBIHuRef
CHM1_12056,865,734 - 56,927,715 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:10657150   PMID:10820264   PMID:10931946   PMID:11780052   PMID:12130530   PMID:12477932   PMID:12651853   PMID:12665801   PMID:12975309   PMID:14702039   PMID:15060112  
PMID:15489334   PMID:15545272   PMID:16227268   PMID:16344560   PMID:16565220   PMID:16571669   PMID:16606821   PMID:16729899   PMID:16891305   PMID:16895911   PMID:17081983   PMID:17207965  
PMID:17215244   PMID:17536055   PMID:17540579   PMID:17804640   PMID:17947296   PMID:18029348   PMID:18160438   PMID:18165232   PMID:18322265   PMID:18555774   PMID:18677189   PMID:18701194  
PMID:18713837   PMID:19165527   PMID:19289470   PMID:19515777   PMID:19615732   PMID:20008544   PMID:20207736   PMID:20227395   PMID:20301623   PMID:20360068   PMID:20377183   PMID:20447143  
PMID:20472325   PMID:20477942   PMID:20577002   PMID:20940299   PMID:21103663   PMID:21144830   PMID:21685205   PMID:21873635   PMID:21976701   PMID:21998752   PMID:22069488   PMID:22119785  
PMID:22131369   PMID:22234250   PMID:22258555   PMID:22454507   PMID:22611258   PMID:22720086   PMID:22810585   PMID:22810586   PMID:22815741   PMID:22878164   PMID:22939629   PMID:23049696  
PMID:23246001   PMID:23281774   PMID:23333387   PMID:23446633   PMID:23455922   PMID:23736259   PMID:23771029   PMID:23971766   PMID:24105263   PMID:24189400   PMID:24212516   PMID:24366813  
PMID:24885147   PMID:25036637   PMID:25083872   PMID:25416956   PMID:25468996   PMID:25612670   PMID:25616068   PMID:25824044   PMID:25826266   PMID:25865307   PMID:25910212   PMID:25921289  
PMID:26186194   PMID:26217791   PMID:26343856   PMID:26344197   PMID:26362257   PMID:26389662   PMID:26490117   PMID:26496610   PMID:26514267   PMID:26566915   PMID:26618866   PMID:26638075  
PMID:26740627   PMID:26760575   PMID:26784321   PMID:26812496   PMID:27025967   PMID:27173435   PMID:27419871   PMID:27432908   PMID:27637333   PMID:27880917   PMID:28108524   PMID:28108526  
PMID:28173107   PMID:28337542   PMID:28377464   PMID:28443643   PMID:28514442   PMID:28597972   PMID:28675297   PMID:28685749   PMID:28718761   PMID:28931009   PMID:28993872   PMID:29180619  
PMID:29229926   PMID:29367253   PMID:29395067   PMID:29509190   PMID:29568061   PMID:29615496   PMID:29656893   PMID:29858488   PMID:29941597   PMID:30021884   PMID:30194290   PMID:30575818  
PMID:30659099   PMID:30717447   PMID:30741620   PMID:30741634   PMID:30745341   PMID:30804502   PMID:30833792   PMID:30841933   PMID:30948266   PMID:31056421   PMID:31073040   PMID:31091453  
PMID:31177093   PMID:31318583   PMID:31405213   PMID:31515488   PMID:31519755   PMID:31536960   PMID:31732153   PMID:31936602   PMID:31980649   PMID:32162544   PMID:32203420   PMID:32241891  
PMID:32280986   PMID:32296183   PMID:32513696   PMID:32525583   PMID:32552912   PMID:32682953   PMID:32807901   PMID:32814053   PMID:32877691   PMID:33957083   PMID:34079125   PMID:34200728  


Genomics

Comparative Map Data
VAPB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2058,389,229 - 58,451,101 (+)EnsemblGRCh38hg38GRCh38
GRCh382058,389,211 - 58,451,101 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372056,964,285 - 57,026,157 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362056,397,651 - 56,455,369 (+)NCBINCBI36hg18NCBI36
Build 342056,397,650 - 56,455,367NCBI
Celera2053,704,711 - 53,762,426 (+)NCBI
Cytogenetic Map20q13.32NCBI
HuRef2053,747,058 - 53,809,032 (+)NCBIHuRef
CHM1_12056,865,734 - 56,927,715 (+)NCBICHM1_1
Vapb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392173,579,364 - 173,626,129 (+)NCBIGRCm39mm39
GRCm39 Ensembl2173,579,304 - 173,626,132 (+)Ensembl
GRCm382173,737,571 - 173,784,336 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2173,737,511 - 173,784,339 (+)EnsemblGRCm38mm10GRCm38
MGSCv372173,563,072 - 173,609,837 (+)NCBIGRCm37mm9NCBIm37
MGSCv362173,380,510 - 173,427,275 (+)NCBImm8
Celera2179,705,544 - 179,751,066 (+)NCBICelera
Cytogenetic Map2H4NCBI
cM Map297.37NCBI
Vapb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23162,536,090 - 162,578,738 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl3162,535,905 - 162,573,763 (+)Ensembl
Rnor_6.03171,832,558 - 171,871,042 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3171,832,500 - 171,868,647 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03177,890,856 - 177,931,543 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43164,632,388 - 164,669,187 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13164,538,238 - 164,576,441 (+)NCBI
Celera3161,718,437 - 161,754,637 (+)NCBICelera
Cytogenetic Map3q42NCBI
Vapb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554451,098,454 - 1,120,823 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554451,098,454 - 1,122,879 (-)NCBIChiLan1.0ChiLan1.0
VAPB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12056,010,782 - 56,071,185 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2056,010,782 - 56,064,363 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02054,736,035 - 54,798,155 (+)NCBIMhudiblu_PPA_v0panPan3
VAPB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12443,182,158 - 43,238,019 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2443,182,196 - 43,231,336 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2442,428,808 - 42,484,615 (+)NCBI
ROS_Cfam_1.02444,048,066 - 44,104,061 (+)NCBI
UMICH_Zoey_3.12443,152,527 - 43,208,360 (+)NCBI
UNSW_CanFamBas_1.02443,270,720 - 43,326,518 (+)NCBI
UU_Cfam_GSD_1.02443,929,924 - 43,985,979 (+)NCBI
Vapb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640182,275,951 - 182,320,727 (-)NCBI
SpeTri2.0NW_004936530985,488 - 1,030,270 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VAPB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1758,594,749 - 58,644,918 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11758,594,749 - 58,644,925 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21765,806,107 - 65,856,325 (+)NCBISscrofa10.2Sscrofa10.2susScr3
VAPB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.125,686,294 - 5,740,855 (-)NCBI
ChlSab1.1 Ensembl25,687,611 - 5,740,740 (-)Ensembl
Vero_WHO_p1.0NW_02366605053,733,097 - 53,795,120 (-)NCBI
Vapb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474124,716,835 - 24,767,806 (+)NCBI

Position Markers
D20S430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372056,150,061 - 56,150,259UniSTSGRCh37
Build 362055,583,467 - 55,583,665RGDNCBI36
Celera2052,890,428 - 52,890,630RGD
Cytogenetic Map20q13.33UniSTS
HuRef2052,932,028 - 52,932,230UniSTS
Marshfield Genetic Map2086.98UniSTS
Marshfield Genetic Map2086.98RGD
deCODE Assembly Map2093.75UniSTS
D20S173  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372058,878,008 - 58,878,188UniSTSGRCh37
GRCh372058,878,008 - 58,878,187UniSTSGRCh37
Build 362058,311,403 - 58,311,582RGDNCBI36
Celera2055,618,656 - 55,618,840UniSTS
Celera2055,618,656 - 55,618,839RGD
HuRef2055,665,094 - 55,665,278UniSTS
HuRef2055,665,094 - 55,665,277UniSTS
Marshfield Genetic Map2098.09RGD
Genethon Genetic Map2096.5UniSTS
TNG Radiation Hybrid Map2026974.0UniSTS
Stanford-G3 RH Map202884.0UniSTS
GeneMap99-GB4 RH Map20339.83UniSTS
Whitehead-RH Map20346.1UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map20583.1UniSTS
GeneMap99-G3 RH Map202917.0UniSTS
D20S164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,053,356 - 57,053,544UniSTSGRCh37
GRCh379121,838,568 - 121,839,909UniSTSGRCh37
Build 362056,486,762 - 56,486,950RGDNCBI36
Celera2053,793,812 - 53,794,000RGD
Celera992,486,277 - 92,487,618UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map20q13.33UniSTS
HuRef2053,836,243 - 53,836,431UniSTS
HuRef991,455,835 - 91,457,179UniSTS
Marshfield Genetic Map20101.22RGD
Marshfield Genetic Map20101.22UniSTS
deCODE Assembly Map2096.24UniSTS
D20S171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,808,030 - 57,808,168UniSTSGRCh37
Build 362057,241,425 - 57,241,563RGDNCBI36
Celera2054,548,666 - 54,548,804RGD
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map20q13.33UniSTS
HuRef2054,595,149 - 54,595,287UniSTS
Marshfield Genetic Map2095.7UniSTS
Marshfield Genetic Map2095.7RGD
Genethon Genetic Map2094.4UniSTS
deCODE Assembly Map2098.63UniSTS
GeneMap99-GB4 RH Map20336.9UniSTS
Whitehead-RH Map20343.1UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map20583.1UniSTS
WI-16045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,020,451 - 57,020,575UniSTSGRCh37
Build 362056,453,857 - 56,453,981RGDNCBI36
Celera2053,760,916 - 53,761,040RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,803,334 - 53,803,458UniSTS
GeneMap99-GB4 RH Map20333.73UniSTS
Whitehead-RH Map20339.9UniSTS
SHGC-32592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,025,962 - 57,026,075UniSTSGRCh37
Build 362056,459,368 - 56,459,481RGDNCBI36
Celera2053,766,417 - 53,766,530RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,808,837 - 53,808,950UniSTS
GeneMap99-G3 RH Map202843.0UniSTS
SHGC-132475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,025,890 - 57,025,998UniSTSGRCh37
Build 362056,459,296 - 56,459,404RGDNCBI36
Celera2053,766,345 - 53,766,453RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,808,765 - 53,808,873UniSTS
TNG Radiation Hybrid Map2026268.0UniSTS
STS-AA009675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,010,095 - 57,010,341UniSTSGRCh37
Build 362056,443,501 - 56,443,747RGDNCBI36
Celera2053,750,563 - 53,750,809RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,792,980 - 53,793,226UniSTS
GeneMap99-GB4 RH Map20335.45UniSTS
A004M26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,025,987 - 57,026,124UniSTSGRCh37
Build 362056,459,393 - 56,459,530RGDNCBI36
Celera2053,766,442 - 53,766,579RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,808,862 - 53,808,999UniSTS
GeneMap99-GB4 RH Map20333.73UniSTS
RH44172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,020,340 - 57,020,481UniSTSGRCh37
Build 362056,453,746 - 56,453,887RGDNCBI36
Celera2053,760,805 - 53,760,946RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,803,223 - 53,803,364UniSTS
GeneMap99-GB4 RH Map20334.42UniSTS
NCBI RH Map20583.1UniSTS
D20S1102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,020,340 - 57,020,477UniSTSGRCh37
Build 362056,453,746 - 56,453,883RGDNCBI36
Celera2053,760,805 - 53,760,942RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,803,223 - 53,803,360UniSTS
Stanford-G3 RH Map202810.0UniSTS
NCBI RH Map20583.1UniSTS
GeneMap99-G3 RH Map202843.0UniSTS
WI-19552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,020,300 - 57,020,557UniSTSGRCh37
Build 362056,453,706 - 56,453,963RGDNCBI36
Celera2053,760,765 - 53,761,022RGD
Cytogenetic Map20q13.33UniSTS
HuRef2053,803,183 - 53,803,440UniSTS
GeneMap99-GB4 RH Map20333.73UniSTS
Whitehead-RH Map20339.9UniSTS
VAPB__5060  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372057,021,161 - 57,022,049UniSTSGRCh37
Build 362056,454,567 - 56,455,455RGDNCBI36
Celera2053,761,624 - 53,762,512RGD
HuRef2053,804,044 - 53,804,932UniSTS
D20S173  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q13.33UniSTS
Marshfield Genetic Map2098.09UniSTS
Genethon Genetic Map2096.5UniSTS
Whitehead-RH Map20346.1UniSTS
Whitehead-YAC Contig Map20 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3895
Count of miRNA genes:1239
Interacting mature miRNAs:1597
Transcripts:ENST00000265619, ENST00000395802, ENST00000463370, ENST00000475243, ENST00000476395, ENST00000520497
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2309 1769 1466 338 1073 215 3702 1948 3415 359 1239 1511 136 1013 2499 3
Low 129 1212 260 284 869 250 654 249 316 60 217 102 39 1 191 289 1
Below cutoff 10 2 9 2 4 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF160212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL118513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM968517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA450527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2058,389,375 - 58,446,905 (+)Ensembl
RefSeq Acc Id: ENST00000395802   ⟹   ENSP00000379147
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2058,389,313 - 58,445,552 (+)Ensembl
RefSeq Acc Id: ENST00000463370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2058,431,033 - 58,445,552 (+)Ensembl
RefSeq Acc Id: ENST00000475243   ⟹   ENSP00000417175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2058,389,229 - 58,451,101 (+)Ensembl
RefSeq Acc Id: ENST00000476395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2058,438,977 - 58,445,552 (+)Ensembl
RefSeq Acc Id: ENST00000520497   ⟹   ENSP00000430426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2058,389,366 - 58,444,531 (+)Ensembl
RefSeq Acc Id: NM_001195677   ⟹   NP_001182606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,389,229 - 58,451,101 (+)NCBI
GRCh372056,964,175 - 57,026,157 (+)ENTREZGENE
HuRef2053,747,058 - 53,809,032 (+)ENTREZGENE
CHM1_12056,865,734 - 56,927,715 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004738   ⟹   NP_004729
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,389,229 - 58,451,101 (+)NCBI
GRCh372056,964,175 - 57,026,157 (+)ENTREZGENE
Build 362056,397,651 - 56,455,369 (+)NCBI Archive
HuRef2053,747,058 - 53,809,032 (+)ENTREZGENE
CHM1_12056,865,734 - 56,927,715 (+)NCBI
Sequence:
RefSeq Acc Id: NR_036633
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,389,229 - 58,451,101 (+)NCBI
GRCh372056,964,175 - 57,026,157 (+)ENTREZGENE
HuRef2053,747,058 - 53,809,032 (+)ENTREZGENE
CHM1_12056,865,734 - 56,927,715 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001754433
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,389,211 - 58,440,993 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004729   ⟸   NM_004738
- Peptide Label: isoform 1
- UniProtKB: O95292 (UniProtKB/Swiss-Prot),   Q53XM7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001182606   ⟸   NM_001195677
- Peptide Label: isoform 2
- UniProtKB: O95292 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430426   ⟸   ENST00000520497
RefSeq Acc Id: ENSP00000379147   ⟸   ENST00000395802
RefSeq Acc Id: ENSP00000417175   ⟸   ENST00000475243
Protein Domains
MSP

Promoters
RGD ID:6799190
Promoter ID:HG_KWN:39967
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000079875,   UC002XZB.1,   UC002XZC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362056,397,401 - 56,398,032 (+)MPROMDB
RGD ID:13602208
Promoter ID:EPDNEW_H27288
Type:initiation region
Name:VAPB_1
Description:VAMP associated protein B and C
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382058,389,231 - 58,389,291EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004738.5(VAPB):c.492C>T (p.Thr164=) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141337]|Amyotrophic lateral sclerosis type 8 [RCV001079369]|Amyotrophic lateral sclerosis type 8 [RCV001141338]|not provided [RCV000714164] Chr20:58441002 [GRCh38]
Chr20:57016058 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.4(VAPB):c.348T>C (p.Asp116=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000557219] Chr20:58438977 [GRCh38]
Chr20:57014033 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.137C>T (p.Thr46Ile) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000023467]|not provided [RCV000059634] Chr20:58418289 [GRCh38]
Chr20:56993345 [GRCh37]
Chr20:20q13.32
pathogenic|not provided
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000005073]|Amyotrophic lateral sclerosis type 8 [RCV000810714]|Amyotrophic lateral sclerosis, typical [RCV000005075]|Spinal muscular atrophy, late-onset, finkel type [RCV000005074]|not provided [RCV000059635] Chr20:58418318 [GRCh38]
Chr20:56993374 [GRCh37]
Chr20:20q13.32
pathogenic|not provided
NM_004738.4(VAPB):c.58+13731G>C single nucleotide variant Lung cancer [RCV000101691] Chr20:58403248 [GRCh38]
Chr20:56978304 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000538329]|not provided [RCV000514140]|not specified [RCV000171347] Chr20:58444159 [GRCh38]
Chr20:57019215 [GRCh37]
Chr20:20q13.32
likely pathogenic|likely benign|uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3 copy number gain See cases [RCV000135622] Chr20:55630597..60941207 [GRCh38]
Chr20:54220678..59516263 [GRCh37]
Chr20:53639062..58949658 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 copy number gain See cases [RCV000138035] Chr20:56198032..64277321 [GRCh38]
Chr20:54773088..62908674 [GRCh37]
Chr20:54206495..62379118 [NCBI36]
Chr20:20q13.2-13.33
pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 copy number gain See cases [RCV000141347] Chr20:57229415..64273089 [GRCh38]
Chr20:55804471..62904442 [GRCh37]
Chr20:55237878..62374886 [NCBI36]
Chr20:20q13.31-13.33
pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 copy number gain See cases [RCV000143584] Chr20:53236165..64284202 [GRCh38]
Chr20:51852704..62915555 [GRCh37]
Chr20:51286111..62385999 [NCBI36]
Chr20:20q13.2-13.33
likely pathogenic
NM_004738.4(VAPB):c.315+35C>T single nucleotide variant not specified [RCV000242156] Chr20:58434740 [GRCh38]
Chr20:57009796 [GRCh37]
Chr20:20q13.32
benign
NM_004738.4(VAPB):c.390T>G (p.Asp130Glu) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000403252]|Amyotrophic lateral sclerosis type 8 [RCV000314779]|Amyotrophic lateral sclerosis type 8 [RCV000535405]|not provided [RCV001573916]|not specified [RCV000244932] Chr20:58439019 [GRCh38]
Chr20:57014075 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*1413C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000284187]|Amyotrophic lateral sclerosis type 8 [RCV000341587] Chr20:58445648 [GRCh38]
Chr20:57020704 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*3274C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000303074]|Amyotrophic lateral sclerosis type 8 [RCV000360211] Chr20:58447509 [GRCh38]
Chr20:57022565 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*3315A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000267868]|Amyotrophic lateral sclerosis type 8 [RCV000306599] Chr20:58447550 [GRCh38]
Chr20:57022606 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4862A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000379930]|Amyotrophic lateral sclerosis type 8 [RCV000285524] Chr20:58449097 [GRCh38]
Chr20:57024153 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3027A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000269613]|Amyotrophic lateral sclerosis type 8 [RCV000327036] Chr20:58447262 [GRCh38]
Chr20:57022318 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*348C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000291998]|Amyotrophic lateral sclerosis type 8 [RCV000349192] Chr20:58444583 [GRCh38]
Chr20:57019639 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4072C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000275528]|Amyotrophic lateral sclerosis type 8 [RCV000330679] Chr20:58448307 [GRCh38]
Chr20:57023363 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*2766C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000262707]|Amyotrophic lateral sclerosis type 8 [RCV000320238] Chr20:58447001 [GRCh38]
Chr20:57022057 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*1282A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000372664]|Amyotrophic lateral sclerosis type 8 [RCV000280522] Chr20:58445517 [GRCh38]
Chr20:57020573 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.-149dup duplication Amyotrophic Lateral Sclerosis, Dominant [RCV000375322]|Spinal Muscular Atrophy, Dominant [RCV000280776] Chr20:58389302..58389303 [GRCh38]
Chr20:56964358..56964359 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*4559A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000270178]|Amyotrophic lateral sclerosis type 8 [RCV000325219] Chr20:58448794 [GRCh38]
Chr20:57023850 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*5790G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000307346]|Amyotrophic lateral sclerosis type 8 [RCV000343522] Chr20:58450025 [GRCh38]
Chr20:57025081 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*3764C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000391380]|Amyotrophic lateral sclerosis type 8 [RCV000307620] Chr20:58447999 [GRCh38]
Chr20:57023055 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*5145T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000403731]|Amyotrophic lateral sclerosis type 8 [RCV000307814] Chr20:58449380 [GRCh38]
Chr20:57024436 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6746C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000270282]|Amyotrophic lateral sclerosis type 8 [RCV000362492] Chr20:58450981 [GRCh38]
Chr20:57026037 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4868C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000376542]|Amyotrophic lateral sclerosis type 8 [RCV000321832] Chr20:58449103 [GRCh38]
Chr20:57024159 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*3805G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000343799]|Amyotrophic lateral sclerosis type 8 [RCV000391100] Chr20:58448040 [GRCh38]
Chr20:57023096 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*3428_*3435CATGTGTG[2] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000363767]|Spinal Muscular Atrophy, Dominant [RCV000271475] Chr20:58447657..58447664 [GRCh38]
Chr20:57022713..57022720 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*937G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000270734]|Amyotrophic lateral sclerosis type 8 [RCV000328180] Chr20:58445172 [GRCh38]
Chr20:57020228 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*6619G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000311461]|Amyotrophic lateral sclerosis type 8 [RCV000368444] Chr20:58450854 [GRCh38]
Chr20:57025910 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*6684_*6686ATG[1] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000328737]|Spinal Muscular Atrophy, Dominant [RCV000271303] Chr20:58450919..58450921 [GRCh38]
Chr20:57025975..57025977 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*6088C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000273397]|Amyotrophic lateral sclerosis type 8 [RCV000386505] Chr20:58450323 [GRCh38]
Chr20:57025379 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*4446G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000273605]|Amyotrophic lateral sclerosis type 8 [RCV000368174] Chr20:58448681 [GRCh38]
Chr20:57023737 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*1050G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000384386]|Amyotrophic lateral sclerosis type 8 [RCV000273510] Chr20:58445285 [GRCh38]
Chr20:57020341 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.4(VAPB):c.332C>T (p.Pro111Leu) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000312731]|Amyotrophic lateral sclerosis type 8 [RCV000348929]|Amyotrophic lateral sclerosis type 8 [RCV001214629] Chr20:58438961 [GRCh38]
Chr20:57014017 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2671A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000393672]|Amyotrophic lateral sclerosis type 8 [RCV000313081] Chr20:58446906 [GRCh38]
Chr20:57021962 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*4418C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000313237]|Amyotrophic lateral sclerosis type 8 [RCV000402589] Chr20:58448653 [GRCh38]
Chr20:57023709 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3942C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000354988]|Amyotrophic lateral sclerosis type 8 [RCV000260092] Chr20:58448177 [GRCh38]
Chr20:57023233 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-159_-158insCC insertion Amyotrophic Lateral Sclerosis, Dominant [RCV000260456]|Spinal Muscular Atrophy, Dominant [RCV000315707] Chr20:58389301..58389302 [GRCh38]
Chr20:56964357..56964358 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000353224]|Amyotrophic lateral sclerosis type 8 [RCV000550282]|Spinal Muscular Atrophy, Dominant [RCV000260698]|not specified [RCV001289412] Chr20:58440984..58440986 [GRCh38]
Chr20:57016040..57016042 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*5352C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000373907]|Amyotrophic lateral sclerosis type 8 [RCV000260590] Chr20:58449587 [GRCh38]
Chr20:57024643 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1451_*1452GT[17] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000276168]|Spinal Muscular Atrophy, Dominant [RCV000333567] Chr20:58445685..58445686 [GRCh38]
Chr20:57020741..57020742 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1451_*1452GT[16] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000353309]|Spinal Muscular Atrophy, Dominant [RCV000260784] Chr20:58445685..58445688 [GRCh38]
Chr20:57020741..57020744 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6578T>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000369628]|Amyotrophic lateral sclerosis type 8 [RCV000406359] Chr20:58450813 [GRCh38]
Chr20:57025869 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*4923A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000337193]|Amyotrophic lateral sclerosis type 8 [RCV000282201] Chr20:58449158 [GRCh38]
Chr20:57024214 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.-152C>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000376361]|Amyotrophic lateral sclerosis type 8 [RCV000321722] Chr20:58389308 [GRCh38]
Chr20:56964364 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3516C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000262124]|Amyotrophic lateral sclerosis type 8 [RCV000317307] Chr20:58447751 [GRCh38]
Chr20:57022807 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-189C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000273575]|Amyotrophic lateral sclerosis type 8 [RCV000368078] Chr20:58389271 [GRCh38]
Chr20:56964327 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5095T>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000407007]|Amyotrophic lateral sclerosis type 8 [RCV000351005] Chr20:58449330 [GRCh38]
Chr20:57024386 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*4271A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000393655]|Amyotrophic lateral sclerosis type 8 [RCV000283616] Chr20:58448506 [GRCh38]
Chr20:57023562 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*1800A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000321555]|Amyotrophic lateral sclerosis type 8 [RCV000282928] Chr20:58446035 [GRCh38]
Chr20:57021091 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.4(VAPB):c.-292G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000284594]|Amyotrophic lateral sclerosis type 8 [RCV000391526] Chr20:58389168 [GRCh38]
Chr20:56964224 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*3020A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000323636]|Amyotrophic lateral sclerosis type 8 [RCV000380553] Chr20:58447255 [GRCh38]
Chr20:57022311 [GRCh37]
Chr20:20q13.32
benign|likely benign|uncertain significance
NM_004738.5(VAPB):c.*200_*214delinsGTTGAGGGGGAAACATTAAAAG indel Amyotrophic Lateral Sclerosis, Dominant [RCV000381968]|Spinal Muscular Atrophy, Dominant [RCV000324973] Chr20:58444435..58444449 [GRCh38]
Chr20:57019491..57019505 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5815G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000358419]|Amyotrophic lateral sclerosis type 8 [RCV000263659] Chr20:58450050 [GRCh38]
Chr20:57025106 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4265G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000342315]|Amyotrophic lateral sclerosis type 8 [RCV000287264] Chr20:58448500 [GRCh38]
Chr20:57023556 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.-33C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000341800]|Amyotrophic lateral sclerosis type 8 [RCV000286786]|Amyotrophic lateral sclerosis type 8 [RCV001516353] Chr20:58389427 [GRCh38]
Chr20:56964483 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*4240G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000381779]|Amyotrophic lateral sclerosis type 8 [RCV000327190] Chr20:58448475 [GRCh38]
Chr20:57023531 [GRCh37]
Chr20:20q13.32
benign|likely benign|uncertain significance
NM_004738.5(VAPB):c.*4520T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000364620]|Amyotrophic lateral sclerosis type 8 [RCV000328563] Chr20:58448755 [GRCh38]
Chr20:57023811 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*3493G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000328925]|Amyotrophic lateral sclerosis type 8 [RCV000385849] Chr20:58447728 [GRCh38]
Chr20:57022784 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6182C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000343815]|Amyotrophic lateral sclerosis type 8 [RCV000288863] Chr20:58450417 [GRCh38]
Chr20:57025473 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*1168G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000331059]|Amyotrophic lateral sclerosis type 8 [RCV000387846] Chr20:58445403 [GRCh38]
Chr20:57020459 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3870G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000300550]|Amyotrophic lateral sclerosis type 8 [RCV000264078] Chr20:58448105 [GRCh38]
Chr20:57023161 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2320T>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000347229]|Amyotrophic lateral sclerosis type 8 [RCV000289976] Chr20:58446555 [GRCh38]
Chr20:57021611 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*4052C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000334124]|Amyotrophic lateral sclerosis type 8 [RCV000370068] Chr20:58448287 [GRCh38]
Chr20:57023343 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*5769G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000386321]|Amyotrophic lateral sclerosis type 8 [RCV000291646] Chr20:58450004 [GRCh38]
Chr20:57025060 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*3118C>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000291949]|Amyotrophic lateral sclerosis type 8 [RCV000383859] Chr20:58447353 [GRCh38]
Chr20:57022409 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3725T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000347446]|Amyotrophic lateral sclerosis type 8 [RCV000292551] Chr20:58447960 [GRCh38]
Chr20:57023016 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*1335C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000338173]|Amyotrophic lateral sclerosis type 8 [RCV000391276] Chr20:58445570 [GRCh38]
Chr20:57020626 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*5832G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000332012]|Amyotrophic lateral sclerosis type 8 [RCV000276965] Chr20:58450067 [GRCh38]
Chr20:57025123 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*375C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000387344]|Amyotrophic lateral sclerosis type 8 [RCV000295429] Chr20:58444610 [GRCh38]
Chr20:57019666 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*1265G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000295668]|Amyotrophic lateral sclerosis type 8 [RCV000315665] Chr20:58445500 [GRCh38]
Chr20:57020556 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*6257del deletion Amyotrophic Lateral Sclerosis, Dominant [RCV000400097]|Spinal Muscular Atrophy, Dominant [RCV000340437] Chr20:58450492 [GRCh38]
Chr20:57025548 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3566A>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000296133]|Amyotrophic lateral sclerosis type 8 [RCV000371903] Chr20:58447801 [GRCh38]
Chr20:57022857 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*4952C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000296236]|Amyotrophic lateral sclerosis type 8 [RCV000402003] Chr20:58449187 [GRCh38]
Chr20:57024243 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*2748A>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000355067]|Amyotrophic lateral sclerosis type 8 [RCV000297911] Chr20:58446983 [GRCh38]
Chr20:57022039 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4327A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000353079]|Amyotrophic lateral sclerosis type 8 [RCV000298172] Chr20:58448562 [GRCh38]
Chr20:57023618 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.4(VAPB):c.574-4G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000356646]|Amyotrophic lateral sclerosis type 8 [RCV000299440]|Amyotrophic lateral sclerosis type 8 [RCV000549324]|not provided [RCV001564242] Chr20:58444073 [GRCh38]
Chr20:57019129 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*2224C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000393666]|Amyotrophic lateral sclerosis type 8 [RCV000343570] Chr20:58446459 [GRCh38]
Chr20:57021515 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*5233_*5237del deletion Amyotrophic Lateral Sclerosis, Dominant [RCV000362262]|Spinal Muscular Atrophy, Dominant [RCV000267555] Chr20:58449467..58449471 [GRCh38]
Chr20:57024523..57024527 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.618C>T (p.Ser206=) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000264195]|Amyotrophic lateral sclerosis type 8 [RCV000321639] Chr20:58444121 [GRCh38]
Chr20:57019177 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*602G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000337700]|Amyotrophic lateral sclerosis type 8 [RCV000299180] Chr20:58444837 [GRCh38]
Chr20:57019893 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3192T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000408059]|Amyotrophic lateral sclerosis type 8 [RCV000299419] Chr20:58447427 [GRCh38]
Chr20:57022483 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*5826G>A single nucleotide variant Amyotrophic Lateral Sclerosis, Dominant [RCV000355038]|Spinal Muscular Atrophy, Dominant [RCV000300145] Chr20:58450061 [GRCh38]
Chr20:57025117 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5789C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000346521]|Amyotrophic lateral sclerosis type 8 [RCV000391026] Chr20:58450024 [GRCh38]
Chr20:57025080 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1773G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000375216]|Amyotrophic lateral sclerosis type 8 [RCV000318234] Chr20:58446008 [GRCh38]
Chr20:57021064 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*5298C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000264156]|Amyotrophic lateral sclerosis type 8 [RCV000319356] Chr20:58449533 [GRCh38]
Chr20:57024589 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*2819A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000358117]|Amyotrophic lateral sclerosis type 8 [RCV000266259] Chr20:58447054 [GRCh38]
Chr20:57022110 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*726A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000302170]|Amyotrophic lateral sclerosis type 8 [RCV000406420] Chr20:58444961 [GRCh38]
Chr20:57020017 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.*3118C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000349600]|Amyotrophic lateral sclerosis type 8 [RCV000387756] Chr20:58447353 [GRCh38]
Chr20:57022409 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*75G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000267525]|Amyotrophic lateral sclerosis type 8 [RCV000378414] Chr20:58444310 [GRCh38]
Chr20:57019366 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*753C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000359310]|Amyotrophic lateral sclerosis type 8 [RCV000267325] Chr20:58444988 [GRCh38]
Chr20:57020044 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*5250T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000303935]|Amyotrophic lateral sclerosis type 8 [RCV000358667] Chr20:58449485 [GRCh38]
Chr20:57024541 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*3822C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000358904]|Amyotrophic lateral sclerosis type 8 [RCV000304157] Chr20:58448057 [GRCh38]
Chr20:57023113 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*884A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000363071]|Amyotrophic lateral sclerosis type 8 [RCV000306080] Chr20:58445119 [GRCh38]
Chr20:57020175 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*596C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000352804]|Amyotrophic lateral sclerosis type 8 [RCV000408322] Chr20:58444831 [GRCh38]
Chr20:57019887 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143189]|Amyotrophic lateral sclerosis type 8 [RCV000641758]|Amyotrophic lateral sclerosis type 8 [RCV001143188]|not specified [RCV000516581] Chr20:58444170 [GRCh38]
Chr20:57019226 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5795T>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000391022]|Amyotrophic lateral sclerosis type 8 [RCV000303838] Chr20:58450030 [GRCh38]
Chr20:57025086 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1451_*1452GT[19] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000405957]|Spinal Muscular Atrophy, Dominant [RCV000363809] Chr20:58445684..58445685 [GRCh38]
Chr20:57020740..57020741 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.4(VAPB):c.-229_-226dupGTGC microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000304828]|Spinal Muscular Atrophy, Dominant [RCV000364118] Chr20:58389207..58389208 [GRCh38]
Chr20:56964263..56964264 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5511_*5513del deletion Amyotrophic Lateral Sclerosis, Dominant [RCV000316542]|Spinal Muscular Atrophy, Dominant [RCV000389687] Chr20:58449745..58449747 [GRCh38]
Chr20:57024801..57024803 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.30C>T (p.Leu10=) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000402917]|Amyotrophic lateral sclerosis type 8 [RCV000347700] Chr20:58389489 [GRCh38]
Chr20:56964545 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-159_-158insC insertion Amyotrophic Lateral Sclerosis, Dominant [RCV000333178]|Spinal Muscular Atrophy, Dominant [RCV000369109] Chr20:58389301..58389302 [GRCh38]
Chr20:56964357..56964358 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5699_*5700insA insertion Amyotrophic Lateral Sclerosis, Dominant [RCV000295455]|Spinal Muscular Atrophy, Dominant [RCV000350421] Chr20:58449934..58449935 [GRCh38]
Chr20:57024990..57024991 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1431G>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000306681]|Amyotrophic lateral sclerosis type 8 [RCV000405372] Chr20:58445666 [GRCh38]
Chr20:57020722 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3628A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000386859]|Amyotrophic lateral sclerosis type 8 [RCV000350948] Chr20:58447863 [GRCh38]
Chr20:57022919 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3134G>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000295898]|Amyotrophic lateral sclerosis type 8 [RCV000334535] Chr20:58447369 [GRCh38]
Chr20:57022425 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2676A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000403086]|Amyotrophic lateral sclerosis type 8 [RCV000369959] Chr20:58446911 [GRCh38]
Chr20:57021967 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6238T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000285440]|Amyotrophic lateral sclerosis type 8 [RCV000379844] Chr20:58450473 [GRCh38]
Chr20:57025529 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-198_-193GCCCTC[3] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000308817]|Spinal Muscular Atrophy, Dominant [RCV000404362] Chr20:58389257..58389258 [GRCh38]
Chr20:56964313..56964314 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1919A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000378620]|Amyotrophic lateral sclerosis type 8 [RCV000286539] Chr20:58446154 [GRCh38]
Chr20:57021210 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6842A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000379621]|Amyotrophic lateral sclerosis type 8 [RCV000322703] Chr20:58451077 [GRCh38]
Chr20:57026133 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3260C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000405480]|Amyotrophic lateral sclerosis type 8 [RCV000337958] Chr20:58447495 [GRCh38]
Chr20:57022551 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4306del deletion Amyotrophic Lateral Sclerosis, Dominant [RCV000338743]|Spinal Muscular Atrophy, Dominant [RCV000393662] Chr20:58448537 [GRCh38]
Chr20:57023593 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001227604]|not specified [RCV000518325] Chr20:58441061 [GRCh38]
Chr20:57016117 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-12C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000382271]|Amyotrophic lateral sclerosis type 8 [RCV000287965] Chr20:58389448 [GRCh38]
Chr20:56964504 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6460_*6461GT[3] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000298656]|Spinal Muscular Atrophy, Dominant [RCV000392765] Chr20:58450694..58450695 [GRCh38]
Chr20:57025750..57025751 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.4(VAPB):c.-283A>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000339660]|Amyotrophic lateral sclerosis type 8 [RCV000402456] Chr20:58389177 [GRCh38]
Chr20:56964233 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6354G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000338423]|Amyotrophic lateral sclerosis type 8 [RCV000299905] Chr20:58450589 [GRCh38]
Chr20:57025645 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1451_*1452GT[20] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000368563]|Spinal Muscular Atrophy, Dominant [RCV000311492] Chr20:58445684..58445685 [GRCh38]
Chr20:57020740..57020741 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5114G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000365876]|Amyotrophic lateral sclerosis type 8 [RCV000311251] Chr20:58449349 [GRCh38]
Chr20:57024405 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4206G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV000385224]|Amyotrophic lateral sclerosis type 8 [RCV000290384] Chr20:58448441 [GRCh38]
Chr20:57023497 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6117_*6120CTGT[1] microsatellite Amyotrophic Lateral Sclerosis, Dominant [RCV000328637]|Spinal Muscular Atrophy, Dominant [RCV000383258] Chr20:58450351..58450354 [GRCh38]
Chr20:57025407..57025410 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*467G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138868]|Amyotrophic lateral sclerosis type 8 [RCV001138869] Chr20:58444702 [GRCh38]
Chr20:57019758 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*480T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138870]|Amyotrophic lateral sclerosis type 8 [RCV001138871] Chr20:58444715 [GRCh38]
Chr20:57019771 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-137C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138338]|Amyotrophic lateral sclerosis type 8 [RCV001138339] Chr20:58389323 [GRCh38]
Chr20:56964379 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.194C>T (p.Ala65Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000641760] Chr20:58418346 [GRCh38]
Chr20:56993402 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.4(VAPB):c.289A>G (p.Thr97Ala) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138758]|Amyotrophic lateral sclerosis type 8 [RCV000641761]|Amyotrophic lateral sclerosis type 8 [RCV001138759] Chr20:58434679 [GRCh38]
Chr20:57009735 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.195C>A (p.Ala65=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000641764] Chr20:58418347 [GRCh38]
Chr20:56993403 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.709A>G (p.Ile237Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000641757] Chr20:58444212 [GRCh38]
Chr20:57019268 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 copy number gain See cases [RCV000511980] Chr20:51542616..62915555 [GRCh37]
Chr20:20q13.2-13.33
likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_004738.5(VAPB):c.156C>T (p.Tyr52=) single nucleotide variant not provided [RCV000714163] Chr20:58418308 [GRCh38]
Chr20:56993364 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.4(VAPB):c.59-4A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138754]|Amyotrophic lateral sclerosis type 8 [RCV001079306]|Amyotrophic lateral sclerosis type 8 [RCV001138755]|not provided [RCV000527726] Chr20:58418207 [GRCh38]
Chr20:56993263 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.496G>A (p.Val166Ile) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000641759] Chr20:58441006 [GRCh38]
Chr20:57016062 [GRCh37]
Chr20:20q13.32
likely benign|uncertain significance
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000641762] Chr20:58440992 [GRCh38]
Chr20:57016048 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143187]|Amyotrophic lateral sclerosis type 8 [RCV000534701]|Amyotrophic lateral sclerosis type 8 [RCV000990320]|not provided [RCV001579802]|not specified [RCV000611845] Chr20:58441020 [GRCh38]
Chr20:57016076 [GRCh37]
Chr20:20q13.32
benign|likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000641763] Chr20:58418256 [GRCh38]
Chr20:56993312 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.174C>T (p.Ser58=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001467535]|not provided [RCV000641765] Chr20:58418326 [GRCh38]
Chr20:56993382 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000690895] Chr20:58441003 [GRCh38]
Chr20:57016059 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000703051] Chr20:58418263 [GRCh38]
Chr20:56993319 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.4(VAPB):c.58+5G>A single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000696174] Chr20:58389522 [GRCh38]
Chr20:56964578 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000696851] Chr20:58441055 [GRCh38]
Chr20:57016111 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_004738.5(VAPB):c.105G>A (p.Pro35=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000871252] Chr20:58418257 [GRCh38]
Chr20:56993313 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.316-128G>A single nucleotide variant not provided [RCV001539453] Chr20:58438817 [GRCh38]
Chr20:57013873 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.59-168G>A single nucleotide variant not provided [RCV001549744] Chr20:58418043 [GRCh38]
Chr20:56993099 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.574-5C>T single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000964704] Chr20:58444072 [GRCh38]
Chr20:57019128 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001054903] Chr20:58389493 [GRCh38]
Chr20:56964549 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) copy number gain not provided [RCV000767669] Chr20:54143747..62194881 [GRCh37]
Chr20:20q13.2-13.33
pathogenic
NM_004738.5(VAPB):c.58+9C>T single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001452076]|not provided [RCV000933137] Chr20:58389526 [GRCh38]
Chr20:56964582 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.528G>A (p.Leu176=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000875378] Chr20:58441038 [GRCh38]
Chr20:57016094 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.21C>G (p.Val7=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001429185]|not provided [RCV000917926] Chr20:58389480 [GRCh38]
Chr20:56964536 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000792742] Chr20:58444171 [GRCh38]
Chr20:57019227 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.199A>G (p.Ile67Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000812741] Chr20:58418351 [GRCh38]
Chr20:56993407 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.688T>G (p.Leu230Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000806230] Chr20:58444191 [GRCh38]
Chr20:57019247 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh37/hg19 20q13.32(chr20:57009165-57100623)x3 copy number gain not provided [RCV000846957] Chr20:57009165..57100623 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000802069] Chr20:58444177 [GRCh38]
Chr20:57019233 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 copy number gain not provided [RCV001007098] Chr20:56788101..62762405 [GRCh37]
Chr20:20q13.32-13.33
pathogenic
NC_000020.10:g.(?_56993257)_(57967907_?)dup duplication Amyotrophic lateral sclerosis type 8 [RCV000821283] Chr20:56993257..57967907 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1905C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136825]|Amyotrophic lateral sclerosis type 8 [RCV001136824] Chr20:58446140 [GRCh38]
Chr20:57021196 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2876A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136931]|Amyotrophic lateral sclerosis type 8 [RCV001136932] Chr20:58447111 [GRCh38]
Chr20:57022167 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*172A>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136615]|Amyotrophic lateral sclerosis type 8 [RCV001136616] Chr20:58444407 [GRCh38]
Chr20:57019463 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2850T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136929]|Amyotrophic lateral sclerosis type 8 [RCV001136930] Chr20:58447085 [GRCh38]
Chr20:57022141 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3014C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139178]|Amyotrophic lateral sclerosis type 8 [RCV001139179] Chr20:58447249 [GRCh38]
Chr20:57022305 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*995T>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136723]|Amyotrophic lateral sclerosis type 8 [RCV001136722] Chr20:58445230 [GRCh38]
Chr20:57020286 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*5005T>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001137260]|Amyotrophic lateral sclerosis type 8 [RCV001137259] Chr20:58449240 [GRCh38]
Chr20:57024296 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*2012G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139068]|Amyotrophic lateral sclerosis type 8 [RCV001139069] Chr20:58446247 [GRCh38]
Chr20:57021303 [GRCh37]
Chr20:20q13.32
uncertain significance
NC_000020.11:g.(?_58389109)_(58389527_?)del deletion Amyotrophic lateral sclerosis type 8 [RCV001032451] Chr20:56964165..56964583 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.212-12T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138756]|Amyotrophic lateral sclerosis type 8 [RCV001138757] Chr20:58434590 [GRCh38]
Chr20:57009646 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*436C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138866]|Amyotrophic lateral sclerosis type 8 [RCV001138867] Chr20:58444671 [GRCh38]
Chr20:57019727 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001044794] Chr20:58441012 [GRCh38]
Chr20:57016068 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6068T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139616]|Amyotrophic lateral sclerosis type 8 [RCV001139615] Chr20:58450303 [GRCh38]
Chr20:57025359 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5479C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001140278]|Amyotrophic lateral sclerosis type 8 [RCV001140277] Chr20:58449714 [GRCh38]
Chr20:57024770 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*1022C>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136725]|Amyotrophic lateral sclerosis type 8 [RCV001136724] Chr20:58445257 [GRCh38]
Chr20:57020313 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*861T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143302]|Amyotrophic lateral sclerosis type 8 [RCV001143301] Chr20:58445096 [GRCh38]
Chr20:57020152 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.59-49C>G single nucleotide variant not provided [RCV001571000] Chr20:58418162 [GRCh38]
Chr20:56993218 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.333G>A (p.Pro111=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV000952137] Chr20:58438962 [GRCh38]
Chr20:57014018 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*5453C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001140275]|Amyotrophic lateral sclerosis type 8 [RCV001140276] Chr20:58449688 [GRCh38]
Chr20:57024744 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.315A>G (p.Val105=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001223151] Chr20:58434705 [GRCh38]
Chr20:57009761 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2592G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141683]|Amyotrophic lateral sclerosis type 8 [RCV001141682] Chr20:58446827 [GRCh38]
Chr20:57021883 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.*382G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138865]|Amyotrophic lateral sclerosis type 8 [RCV001138864] Chr20:58444617 [GRCh38]
Chr20:57019673 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2350A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139070]|Amyotrophic lateral sclerosis type 8 [RCV001139071] Chr20:58446585 [GRCh38]
Chr20:57021641 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3701C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139280]|Amyotrophic lateral sclerosis type 8 [RCV001139279] Chr20:58447936 [GRCh38]
Chr20:57022992 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4374A>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139388]|Amyotrophic lateral sclerosis type 8 [RCV001139387] Chr20:58448609 [GRCh38]
Chr20:57023665 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-166G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143078]|Amyotrophic lateral sclerosis type 8 [RCV001143077] Chr20:58389294 [GRCh38]
Chr20:56964350 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*774G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143300]|Amyotrophic lateral sclerosis type 8 [RCV001143299] Chr20:58445009 [GRCh38]
Chr20:57020065 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1641G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143402]|Amyotrophic lateral sclerosis type 8 [RCV001143403] Chr20:58445876 [GRCh38]
Chr20:57020932 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*5283C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139513]|Amyotrophic lateral sclerosis type 8 [RCV001139514] Chr20:58449518 [GRCh38]
Chr20:57024574 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.396+128dup duplication not provided [RCV001570733] Chr20:58439145..58439146 [GRCh38]
Chr20:57014201..57014202 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.-149del deletion not provided [RCV001558601] Chr20:58389303 [GRCh38]
Chr20:56964359 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141335]|Amyotrophic lateral sclerosis type 8 [RCV001141336]|Amyotrophic lateral sclerosis type 8 [RCV001325603] Chr20:58434700 [GRCh38]
Chr20:57009756 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*574G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141454]|Amyotrophic lateral sclerosis type 8 [RCV001141455] Chr20:58444809 [GRCh38]
Chr20:57019865 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*624C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141456]|Amyotrophic lateral sclerosis type 8 [RCV001141457] Chr20:58444859 [GRCh38]
Chr20:57019915 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1563G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143400]|Amyotrophic lateral sclerosis type 8 [RCV001143401] Chr20:58445798 [GRCh38]
Chr20:57020854 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5771T>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001142118]|Amyotrophic lateral sclerosis type 8 [RCV001142117] Chr20:58450006 [GRCh38]
Chr20:57025062 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3305C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143602]|Amyotrophic lateral sclerosis type 8 [RCV001143603] Chr20:58447540 [GRCh38]
Chr20:57022596 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3968C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143703]|Amyotrophic lateral sclerosis type 8 [RCV001143704] Chr20:58448203 [GRCh38]
Chr20:57023259 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*4929C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143823]|Amyotrophic lateral sclerosis type 8 [RCV001143822] Chr20:58449164 [GRCh38]
Chr20:57024220 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3643G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001137033]|Amyotrophic lateral sclerosis type 8 [RCV001137032] Chr20:58447878 [GRCh38]
Chr20:57022934 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5851C>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139614]|Amyotrophic lateral sclerosis type 8 [RCV001139613] Chr20:58450086 [GRCh38]
Chr20:57025142 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*5616T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001142116]|Amyotrophic lateral sclerosis type 8 [RCV001142115] Chr20:58449851 [GRCh38]
Chr20:57024907 [GRCh37]
Chr20:20q13.32
uncertain significance
NC_000020.11:g.58389111G>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141237]|Amyotrophic lateral sclerosis type 8 [RCV001141236] Chr20:58389111 [GRCh38]
Chr20:56964167 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6462G>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001142236]|Amyotrophic lateral sclerosis type 8 [RCV001142235] Chr20:58450697 [GRCh38]
Chr20:57025753 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3738A>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139282]|Amyotrophic lateral sclerosis type 8 [RCV001139281] Chr20:58447973 [GRCh38]
Chr20:57023029 [GRCh37]
Chr20:20q13.32
uncertain significance
GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3 copy number gain not provided [RCV001007097] Chr20:55743522..62032989 [GRCh37]
Chr20:20q13.31-13.33
pathogenic
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001034844] Chr20:58389473 [GRCh38]
Chr20:56964529 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.-150C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001138336]|Amyotrophic lateral sclerosis type 8 [RCV001138337] Chr20:58389310 [GRCh38]
Chr20:56964366 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001056677] Chr20:58440961 [GRCh38]
Chr20:57016017 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2885G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136934]|Amyotrophic lateral sclerosis type 8 [RCV001136933] Chr20:58447120 [GRCh38]
Chr20:57022176 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*4394C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139389]|Amyotrophic lateral sclerosis type 8 [RCV001139390] Chr20:58448629 [GRCh38]
Chr20:57023685 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1295T>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141576]|Amyotrophic lateral sclerosis type 8 [RCV001141575] Chr20:58445530 [GRCh38]
Chr20:57020586 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4637G>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001142008]|Amyotrophic lateral sclerosis type 8 [RCV001142007] Chr20:58448872 [GRCh38]
Chr20:57023928 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5612C>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001142114]|Amyotrophic lateral sclerosis type 8 [RCV001142113] Chr20:58449847 [GRCh38]
Chr20:57024903 [GRCh37]
Chr20:20q13.32
benign|likely benign
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001058276] Chr20:58444090 [GRCh38]
Chr20:57019146 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001214718] Chr20:58444158 [GRCh38]
Chr20:57019214 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*6087A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001139617]|Amyotrophic lateral sclerosis type 8 [RCV001139618] Chr20:58450322 [GRCh38]
Chr20:57025378 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2733G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143503]|Amyotrophic lateral sclerosis type 8 [RCV001143504] Chr20:58446968 [GRCh38]
Chr20:57022024 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*4023A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001143706]|Amyotrophic lateral sclerosis type 8 [RCV001143705] Chr20:58448258 [GRCh38]
Chr20:57023314 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*5500A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001140280]|Amyotrophic lateral sclerosis type 8 [RCV001140279] Chr20:58449735 [GRCh38]
Chr20:57024791 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*2571G>A single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141681]|Amyotrophic lateral sclerosis type 8 [RCV001141680] Chr20:58446806 [GRCh38]
Chr20:57021862 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1951A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136827]|Amyotrophic lateral sclerosis type 8 [RCV001136826] Chr20:58446186 [GRCh38]
Chr20:57021242 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*3001T>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001136936]|Amyotrophic lateral sclerosis type 8 [RCV001136935] Chr20:58447236 [GRCh38]
Chr20:57022292 [GRCh37]
Chr20:20q13.32
uncertain significance
NC_000020.11:g.58389138G>C single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141238]|Amyotrophic lateral sclerosis type 8 [RCV001141239] Chr20:58389138 [GRCh38]
Chr20:56964194 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.*6631G>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001137498]|Amyotrophic lateral sclerosis type 8 [RCV001137497] Chr20:58450866 [GRCh38]
Chr20:57025922 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.*1347A>G single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001141577]|Amyotrophic lateral sclerosis type 8 [RCV001141578] Chr20:58445582 [GRCh38]
Chr20:57020638 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*6404C>T single nucleotide variant Adult proximal spinal muscular atrophy, autosomal dominant [RCV001142233]|Amyotrophic lateral sclerosis type 8 [RCV001142234] Chr20:58450639 [GRCh38]
Chr20:57025695 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.457G>A (p.Val153Met) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001295100] Chr20:58440967 [GRCh38]
Chr20:57016023 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001257214] Chr20:58444162 [GRCh38]
Chr20:57019218 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.212-228G>A single nucleotide variant not provided [RCV001538381] Chr20:58434374 [GRCh38]
Chr20:57009430 [GRCh37]
Chr20:20q13.32
benign
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 copy number gain not provided [RCV001537917] Chr20:51799648..62916626 [GRCh37]
Chr20:20q13.2-13.33
pathogenic
NC_000020.10:g.(?_56993257)_(57967907_?)dup duplication Amyotrophic lateral sclerosis type 8 [RCV001324796] Chr20:56993257..57967907 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.677C>T (p.Ala226Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001359792] Chr20:58444180 [GRCh38]
Chr20:57019236 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001348809] Chr20:58441028 [GRCh38]
Chr20:57016084 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001313818]|not provided [RCV001531355] Chr20:58389494 [GRCh38]
Chr20:56964550 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.421A>G (p.Ile141Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001306686] Chr20:58440931 [GRCh38]
Chr20:57015987 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001346893] Chr20:58444138 [GRCh38]
Chr20:57019194 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001372437] Chr20:58389497 [GRCh38]
Chr20:56964553 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.622A>G (p.Ile208Val) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001352547] Chr20:58444125 [GRCh38]
Chr20:57019181 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001364418] Chr20:58434636 [GRCh38]
Chr20:57009692 [GRCh37]
Chr20:20q13.32
uncertain significance
NC_000020.10:g.(?_56964165)_(56964583_?)del deletion Amyotrophic lateral sclerosis type 8 [RCV001295827] Chr20:56964165..56964583 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) single nucleotide variant not provided [RCV001357371] Chr20:58441045 [GRCh38]
Chr20:57016101 [GRCh37]
Chr20:20q13.32
uncertain significance
NM_004738.5(VAPB):c.651A>G (p.Glu217=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001430094] Chr20:58444154 [GRCh38]
Chr20:57019210 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.375G>A (p.Leu125=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001455709] Chr20:58439004 [GRCh38]
Chr20:57014060 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.465G>A (p.Lys155=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001482947] Chr20:58440975 [GRCh38]
Chr20:57016031 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.486T>A (p.Asp162Glu) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001481541] Chr20:58440996 [GRCh38]
Chr20:57016052 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.78C>T (p.Val26=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001403552] Chr20:58418230 [GRCh38]
Chr20:56993286 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.252T>C (p.Ser84=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001397986] Chr20:58434642 [GRCh38]
Chr20:57009698 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.*200_*201del deletion not provided [RCV001533946] Chr20:58444435..58444436 [GRCh38]
Chr20:57019491..57019492 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.163A>C (p.Arg55=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001429594] Chr20:58418315 [GRCh38]
Chr20:56993371 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.189A>C (p.Ala63=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001451614] Chr20:58418341 [GRCh38]
Chr20:56993397 [GRCh37]
Chr20:20q13.32
likely benign
Single allele single nucleotide variant not provided [RCV001539988] Chr20:58389041 [GRCh38]
Chr20:56964097 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.681G>A (p.Leu227=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001510877] Chr20:58444184 [GRCh38]
Chr20:57019240 [GRCh37]
Chr20:20q13.32
benign
NM_004738.5(VAPB):c.111C>T (p.Asp37=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001476695] Chr20:58418263 [GRCh38]
Chr20:56993319 [GRCh37]
Chr20:20q13.32
likely benign
NM_004738.5(VAPB):c.597G>A (p.Arg199=) single nucleotide variant Amyotrophic lateral sclerosis type 8 [RCV001459975] Chr20:58444100 [GRCh38]
Chr20:57019156 [GRCh37]
Chr20:20q13.32
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12649 AgrOrtholog
COSMIC VAPB COSMIC
Ensembl Genes ENSG00000124164 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000379147 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417175 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430426 UniProtKB/TrEMBL
Ensembl Transcript ENST00000395802 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000475243 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520497 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124164 GTEx
HGNC ID HGNC:12649 ENTREZGENE
Human Proteome Map VAPB Human Proteome Map
InterPro Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MSP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PapD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9217 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9217 ENTREZGENE
OMIM 182980 OMIM
  605704 OMIM
  608627 OMIM
PANTHER PTHR10809 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Motile_Sperm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37273 PharmGKB
PIRSF VAMP-associated UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MSP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49354 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RK64_HUMAN UniProtKB/TrEMBL
  O95292 ENTREZGENE
  Q53XM7 ENTREZGENE, UniProtKB/TrEMBL
  VAPB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A2F2 UniProtKB/Swiss-Prot
  O95293 UniProtKB/Swiss-Prot
  Q9P0H0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 VAPB  VAMP associated protein B and C    VAMP (vesicle-associated membrane protein)-associated protein B and C  Symbol and/or name change 5135510 APPROVED
2011-08-16 VAPB  VAMP (vesicle-associated membrane protein)-associated protein B and C  VAPB  VAMP (vesicle-associated membrane protein)-associated protein B and C  Symbol and/or name change 5135510 APPROVED