ABHD12 (abhydrolase domain containing 12, lysophospholipase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ABHD12 (abhydrolase domain containing 12, lysophospholipase) Homo sapiens
Analyze
Symbol: ABHD12
Name: abhydrolase domain containing 12, lysophospholipase
RGD ID: 1314604
HGNC Page HGNC
Description: Enables acylglycerol lipase activity and lysophospholipase activity. Involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Located in endoplasmic reticulum membrane. Implicated in PHARC syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 2-arachidonoylglycerol hydrolase; 2-arachidonoylglycerol hydrolase ABHD12; ABHD12A; abhydrolase domain containing 12; abhydrolase domain-containing protein 12; BEM46L2; C20orf22; chromosome 20 open reading frame 22; dJ965G21.2; DKFZp434P106; hABHD12; lysophosphatidylserine lipase ABHD12; monoacylglycerol lipase ABHD12; oxidized phosphatidylserine lipase ABHD12; PHARC
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 Ensembl2025,294,742 - 25,390,835 (-)EnsemblGRCh38hg38GRCh38
GRCh382025,294,743 - 25,390,835 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372025,275,379 - 25,371,471 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362025,223,379 - 25,319,477 (-)NCBINCBI36hg18NCBI36
Build 342025,223,379 - 25,319,454NCBI
Celera2025,349,117 - 25,445,220 (-)NCBI
Cytogenetic Map20p11.21NCBI
HuRef2025,232,725 - 25,328,525 (-)NCBIHuRef
CHM1_12025,276,265 - 25,320,544 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:11780052   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16303743   PMID:17207965   PMID:20797687   PMID:21873635   PMID:22001757   PMID:22810586   PMID:22938382   PMID:22969151  
PMID:23490117   PMID:24027063   PMID:24697911   PMID:24879289   PMID:25290914   PMID:25743180   PMID:26186194   PMID:26638075   PMID:26972000   PMID:27890673   PMID:28298427   PMID:28380382  
PMID:28443643   PMID:28448692   PMID:28514442   PMID:28675297   PMID:28692057   PMID:29117863   PMID:29656893   PMID:30194290   PMID:30237167   PMID:30643283   PMID:30974196   PMID:31056421  
PMID:31073040   PMID:31091453   PMID:32366405   PMID:32457219   PMID:32462874   PMID:32788342   PMID:33060197   PMID:33957083   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
ABHD12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2025,294,742 - 25,390,835 (-)EnsemblGRCh38hg38GRCh38
GRCh382025,294,743 - 25,390,835 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372025,275,379 - 25,371,471 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362025,223,379 - 25,319,477 (-)NCBINCBI36hg18NCBI36
Build 342025,223,379 - 25,319,454NCBI
Celera2025,349,117 - 25,445,220 (-)NCBI
Cytogenetic Map20p11.21NCBI
HuRef2025,232,725 - 25,328,525 (-)NCBIHuRef
CHM1_12025,276,265 - 25,320,544 (-)NCBICHM1_1
Abhd12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392150,674,413 - 150,746,705 (-)NCBIGRCm39mm39
GRCm39 Ensembl2150,674,413 - 150,746,661 (-)Ensembl
GRCm382150,832,493 - 150,904,779 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2150,832,493 - 150,904,741 (-)EnsemblGRCm38mm10GRCm38
MGSCv372150,658,251 - 150,730,467 (-)NCBIGRCm37mm9NCBIm37
MGSCv362150,523,934 - 150,534,011 (-)NCBImm8
Celera2152,065,897 - 152,137,905 (-)NCBICelera
Cytogenetic Map2G3NCBI
Abhd12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23139,659,315 - 139,719,529 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl3139,659,317 - 139,719,564 (-)Ensembl
Rnor_6.03146,630,298 - 146,690,375 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3146,630,299 - 146,690,375 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03152,989,211 - 153,051,233 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43141,468,888 - 141,530,219 (-)NCBIRGSC3.4rn4RGSC3.4
Celera3138,421,060 - 138,481,137 (-)NCBICelera
Cytogenetic Map3q41NCBI
Abhd12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541531,284,947 - 31,337,160 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541531,284,947 - 31,337,703 (-)NCBIChiLan1.0ChiLan1.0
ABHD12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12025,644,824 - 25,741,073 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2025,645,046 - 25,740,943 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02025,239,710 - 25,335,941 (-)NCBIMhudiblu_PPA_v0panPan3
ABHD12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1231,496,183 - 1,562,738 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl231,496,551 - 1,562,688 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha231,525,725 - 1,592,232 (-)NCBI
ROS_Cfam_1.0231,736,578 - 1,803,088 (-)NCBI
UMICH_Zoey_3.1231,577,308 - 1,643,795 (-)NCBI
UNSW_CanFamBas_1.0231,701,920 - 1,768,413 (-)NCBI
UU_Cfam_GSD_1.0231,669,411 - 1,735,944 (-)NCBI
Abhd12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640147,030,881 - 147,110,895 (+)NCBI
SpeTri2.0NW_004936620451,216 - 531,353 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABHD12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1730,997,480 - 31,056,312 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11730,997,477 - 31,056,307 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ABHD12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660787,726,486 - 7,748,675 (+)NCBIVero_WHO_p1.0
Abhd12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624939212,910 - 272,112 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH12467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,280,878 - 25,281,023UniSTSGRCh37
Build 362025,228,878 - 25,229,023RGDNCBI36
Celera2025,354,613 - 25,354,758RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,238,226 - 25,238,371UniSTS
RH39023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,275,492 - 25,275,634UniSTSGRCh37
Build 362025,223,492 - 25,223,634RGDNCBI36
Celera2025,349,230 - 25,349,372RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,232,838 - 25,232,980UniSTS
RH76548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,275,398 - 25,275,651UniSTSGRCh37
Build 362025,223,398 - 25,223,651RGDNCBI36
Celera2025,349,136 - 25,349,389RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,232,744 - 25,232,997UniSTS
D20S589E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,277,766 - 25,277,885UniSTSGRCh37
Build 362025,225,766 - 25,225,885RGDNCBI36
Celera2025,351,504 - 25,351,623RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,235,112 - 25,235,231UniSTS
G62120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372025,277,197 - 25,277,322UniSTSGRCh37
Build 362025,225,197 - 25,225,322RGDNCBI36
Celera2025,350,935 - 25,351,060RGD
Cytogenetic Map20p11.21UniSTS
HuRef2025,234,543 - 25,234,668UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2400
Count of miRNA genes:879
Interacting mature miRNAs:1067
Transcripts:ENST00000339157, ENST00000376542, ENST00000450393, ENST00000461204, ENST00000465694, ENST00000471287, ENST00000481556, ENST00000491682, ENST00000576316
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 2428 2151 1629 529 1371 372 3614 1228 3686 415 1448 1608 170 1203 2047 4
Low 4 833 94 93 574 92 741 965 22 3 1 1 1 741
Below cutoff 2 1 4 1 7 1 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK075023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ574269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ672998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ961739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339157   ⟹   ENSP00000341408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,214 - 25,390,835 (-)Ensembl
RefSeq Acc Id: ENST00000376542   ⟹   ENSP00000365725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,294,743 - 25,390,835 (-)Ensembl
RefSeq Acc Id: ENST00000450393   ⟹   ENSP00000413311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,309,499 - 25,339,731 (-)Ensembl
RefSeq Acc Id: ENST00000461204   ⟹   ENSP00000460249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,320,199 - 25,390,753 (-)Ensembl
RefSeq Acc Id: ENST00000465694   ⟹   ENSP00000459278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,294,742 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000471287   ⟹   ENSP00000460950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,308,457 - 25,390,134 (-)Ensembl
RefSeq Acc Id: ENST00000481556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,306,833 - 25,310,472 (-)Ensembl
RefSeq Acc Id: ENST00000491682   ⟹   ENSP00000459495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,306,833 - 25,339,749 (-)Ensembl
RefSeq Acc Id: ENST00000576316   ⟹   ENSP00000459121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,303,263 - 25,309,498 (-)Ensembl
RefSeq Acc Id: ENST00000671784   ⟹   ENSP00000500451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,833 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000671858   ⟹   ENSP00000500550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,213 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000672001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,303,578 - 25,319,825 (-)Ensembl
RefSeq Acc Id: ENST00000672114   ⟹   ENSP00000499945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,217 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000672258   ⟹   ENSP00000499868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,217 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000672331   ⟹   ENSP00000500286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,294,747 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000672358   ⟹   ENSP00000500062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,217 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000672406   ⟹   ENSP00000500208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,255 - 25,390,093 (-)Ensembl
RefSeq Acc Id: ENST00000672566   ⟹   ENSP00000500106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,429 - 25,390,387 (-)Ensembl
RefSeq Acc Id: ENST00000672596   ⟹   ENSP00000500290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,217 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000672871   ⟹   ENSP00000499949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,294,747 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000673094   ⟹   ENSP00000500257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,306,299 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000673121   ⟹   ENSP00000499839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,703 - 25,389,952 (-)Ensembl
RefSeq Acc Id: ENST00000673227   ⟹   ENSP00000500514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,217 - 25,317,074 (-)Ensembl
RefSeq Acc Id: ENST00000673524   ⟹   ENSP00000500316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2025,300,214 - 25,339,234 (-)Ensembl
RefSeq Acc Id: NM_001042472   ⟹   NP_001035937
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,300,214 - 25,390,835 (-)NCBI
GRCh372025,275,379 - 25,371,618 (-)ENTREZGENE
Build 362025,228,850 - 25,319,477 (-)NCBI Archive
Celera2025,349,117 - 25,445,220 (-)RGD
HuRef2025,232,725 - 25,328,525 (-)ENTREZGENE
CHM1_12025,281,716 - 25,371,901 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015600   ⟹   NP_056415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,294,743 - 25,390,835 (-)NCBI
GRCh372025,275,379 - 25,371,618 (-)ENTREZGENE
Build 362025,223,379 - 25,319,477 (-)NCBI Archive
Celera2025,349,117 - 25,445,220 (-)RGD
HuRef2025,232,725 - 25,328,525 (-)ENTREZGENE
CHM1_12025,276,265 - 25,371,901 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529214   ⟹   XP_011527516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,300,214 - 25,390,713 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027796   ⟹   XP_016883285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,300,214 - 25,390,713 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027797   ⟹   XP_016883286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,318,358 - 25,390,713 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958465
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,300,214 - 25,390,713 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958466
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,300,214 - 25,390,713 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958467
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382025,300,214 - 25,339,351 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056415   ⟸   NM_015600
- Peptide Label: isoform b
- UniProtKB: Q8N2K0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035937   ⟸   NM_001042472
- Peptide Label: isoform a
- UniProtKB: Q8N2K0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011527516   ⟸   XM_011529214
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016883285   ⟸   XM_017027796
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016883286   ⟸   XM_017027797
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000499839   ⟸   ENST00000673121
RefSeq Acc Id: ENSP00000500257   ⟸   ENST00000673094
RefSeq Acc Id: ENSP00000500316   ⟸   ENST00000673524
RefSeq Acc Id: ENSP00000500514   ⟸   ENST00000673227
RefSeq Acc Id: ENSP00000413311   ⟸   ENST00000450393
RefSeq Acc Id: ENSP00000459278   ⟸   ENST00000465694
RefSeq Acc Id: ENSP00000459495   ⟸   ENST00000491682
RefSeq Acc Id: ENSP00000365725   ⟸   ENST00000376542
RefSeq Acc Id: ENSP00000341408   ⟸   ENST00000339157
RefSeq Acc Id: ENSP00000459121   ⟸   ENST00000576316
RefSeq Acc Id: ENSP00000460950   ⟸   ENST00000471287
RefSeq Acc Id: ENSP00000460249   ⟸   ENST00000461204
RefSeq Acc Id: ENSP00000500550   ⟸   ENST00000671858
RefSeq Acc Id: ENSP00000500451   ⟸   ENST00000671784
RefSeq Acc Id: ENSP00000500286   ⟸   ENST00000672331
RefSeq Acc Id: ENSP00000499868   ⟸   ENST00000672258
RefSeq Acc Id: ENSP00000499945   ⟸   ENST00000672114
RefSeq Acc Id: ENSP00000500290   ⟸   ENST00000672596
RefSeq Acc Id: ENSP00000500106   ⟸   ENST00000672566
RefSeq Acc Id: ENSP00000500208   ⟸   ENST00000672406
RefSeq Acc Id: ENSP00000500062   ⟸   ENST00000672358
RefSeq Acc Id: ENSP00000499949   ⟸   ENST00000672871
Protein Domains
AB hydrolase-1   Hydrolase_4

Promoters
RGD ID:6798500
Promoter ID:HG_KWN:38905
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000078425
Position:
Human AssemblyChrPosition (strand)Source
Build 362025,229,169 - 25,229,669 (-)MPROMDB
RGD ID:6798499
Promoter ID:HG_KWN:38906
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000078429
Position:
Human AssemblyChrPosition (strand)Source
Build 362025,238,626 - 25,239,427 (-)MPROMDB
RGD ID:6798504
Promoter ID:HG_KWN:38908
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000078423,   OTTHUMT00000078424,   OTTHUMT00000078426,   OTTHUMT00000078430,   UC002WUR.1,   UC002WUT.1,   UC002WUU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362025,318,681 - 25,319,777 (-)MPROMDB
RGD ID:13206575
Promoter ID:EPDNEW_H26868
Type:initiation region
Name:ABHD12_1
Description:abhydrolase domain containing 12
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
GRCh382025,390,835 - 25,390,895EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC indel Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000000042] Chr20:25383511..25397601 [GRCh38]
Chr20:25364147..25378237 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) duplication Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000000043] Chr20:25307980..25307981 [GRCh38]
Chr20:25288616..25288617 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.1029+247_1029+248insC insertion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001549026]|not provided [RCV001655877] Chr20:25303302..25303303 [GRCh38]
Chr20:25283938..25283939 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=) single nucleotide variant not provided [RCV000729917] Chr20:25390638 [GRCh38]
Chr20:25371274 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.573+39T>C single nucleotide variant not provided [RCV001571382] Chr20:25317009 [GRCh38]
Chr20:25297645 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) deletion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000656406] Chr20:25302247..25302252 [GRCh38]
Chr20:25282883..25282888 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000132767] Chr20:25302260 [GRCh38]
Chr20:25282896 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) single nucleotide variant Cone dystrophy [RCV000678518]|Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000132769] Chr20:25317064 [GRCh38]
Chr20:25297700 [GRCh37]
Chr20:20p11.21
pathogenic|uncertain significance
NM_001042472.3(ABHD12):c.527G>A (p.Gly176Glu) single nucleotide variant not provided [RCV000521889] Chr20:25320214 [GRCh38]
Chr20:25300850 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000132768] Chr20:25320264 [GRCh38]
Chr20:25300900 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) indel Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000000041]|not provided [RCV000522470] Chr20:25323409..25323410 [GRCh38]
Chr20:25304045..25304046 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000000044]|not provided [RCV001208516] Chr20:25302322 [GRCh38]
Chr20:25282958 [GRCh37]
Chr20:20p11.21
pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21
pathogenic
GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3 copy number gain See cases [RCV000052764] Chr20:25089431..25492048 [GRCh38]
Chr20:25070067..25472684 [GRCh37]
Chr20:25018067..25420684 [NCBI36]
Chr20:20p11.21
uncertain significance
GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3 copy number gain See cases [RCV000052765] Chr20:25099947..25468308 [GRCh38]
Chr20:25080583..25448944 [GRCh37]
Chr20:25028583..25396944 [NCBI36]
Chr20:20p11.21
uncertain significance
GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3 copy number gain See cases [RCV000053000] Chr20:22061586..30285812 [GRCh38]
Chr20:22042224..29520488 [GRCh37]
Chr20:21990224..28134149 [NCBI36]
Chr20:20p11.22-q11.1
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
NM_015600.4(ABHD12):c.326C>T (p.Pro109Leu) single nucleotide variant Malignant melanoma [RCV000063703] Chr20:25323421 [GRCh38]
Chr20:25304057 [GRCh37]
Chr20:25252057 [NCBI36]
Chr20:20p11.21
not provided
NM_001042472.3(ABHD12):c.935T>G (p.Phe312Cys) single nucleotide variant not provided [RCV000087226] Chr20:25306848 [GRCh38]
Chr20:25287484 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000337167]|not provided [RCV000991475]|not specified [RCV000116213] Chr20:25302331 [GRCh38]
Chr20:25282967 [GRCh37]
Chr20:20p11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000282089]|not provided [RCV001512892]|not specified [RCV000116214] Chr20:25302308 [GRCh38]
Chr20:25282944 [GRCh37]
Chr20:20p11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000609598]|not provided [RCV001517392]|not specified [RCV000116215] Chr20:25307996 [GRCh38]
Chr20:25288632 [GRCh37]
Chr20:20p11.21
benign|likely benign|conflicting interpretations of pathogenicity
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001331521]|not provided [RCV000171343] Chr20:25300853 [GRCh38]
Chr20:25281489 [GRCh37]
Chr20:20p11.21
likely pathogenic|uncertain significance
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000256396] Chr20:25303608 [GRCh38]
Chr20:25284244 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) single nucleotide variant not provided [RCV000174273] Chr20:25302263 [GRCh38]
Chr20:25282899 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1
pathogenic
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 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1
pathogenic
GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3 copy number gain See cases [RCV000143540] Chr20:25031679..25625520 [GRCh38]
Chr20:25012315..25606156 [GRCh37]
Chr20:24960315..25554156 [NCBI36]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.787+3G>A single nucleotide variant not provided [RCV000180201] Chr20:25308454 [GRCh38]
Chr20:25289090 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.788-10_788-7del microsatellite not provided [RCV000180549] Chr20:25308052..25308055 [GRCh38]
Chr20:25288688..25288691 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 20p11.21-11.1(chr20:25039251-26067042)x3 copy number gain See cases [RCV000240131] Chr20:25039251..26067042 [GRCh37]
Chr20:20p11.21-11.1
uncertain significance
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000394241]|not provided [RCV000272244] Chr20:25302335 [GRCh38]
Chr20:25282971 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.1018C>T (p.Leu340Phe) single nucleotide variant not provided [RCV001226264] Chr20:25303561 [GRCh38]
Chr20:25284197 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21(chr20:25284225-25371245)x3 copy number gain Ductal breast carcinoma [RCV000207063] Chr20:25284225..25371245 [GRCh37]
Chr20:20p11.21
uncertain significance
Single allele deletion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000235052] Chr20:25383675..25397545 [GRCh38]
Chr20:25364310..25378180 [GRCh37]
Chr20:20p11.21
pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1
pathogenic
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 copy number gain See cases [RCV000240436] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
NM_001042472.3(ABHD12):c.453C>T (p.Asn151=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000271406] Chr20:25320288 [GRCh38]
Chr20:25300924 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.543-13T>C single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000366322] Chr20:25317091 [GRCh38]
Chr20:25297727 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC insertion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000322802]|not provided [RCV000835999] Chr20:25390742..25390743 [GRCh38]
Chr20:25371378..25371379 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000394234]|not provided [RCV001520577] Chr20:25300866 [GRCh38]
Chr20:25281502 [GRCh37]
Chr20:20p11.21
benign|likely benign
NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000362453]|not provided [RCV000997762] Chr20:25339340 [GRCh38]
Chr20:25319976 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.-82_-76del deletion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000282988] Chr20:25390779..25390785 [GRCh38]
Chr20:25371415..25371421 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000279252]|not provided [RCV001613104] Chr20:25390923 [GRCh38]
Chr20:25371559 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.-94C>T single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000319286]|not provided [RCV001712125] Chr20:25390797 [GRCh38]
Chr20:25371433 [GRCh37]
Chr20:20p11.21
benign|likely benign
NM_001042472.3(ABHD12):c.*377C>T single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000273574] Chr20:25300468 [GRCh38]
Chr20:25281104 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*297C>G single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000325016]|not provided [RCV001534919] Chr20:25300548 [GRCh38]
Chr20:25281184 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.-44C>G single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000377467]|not provided [RCV001613103] Chr20:25390747 [GRCh38]
Chr20:25371383 [GRCh37]
Chr20:20p11.21
benign|uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000285470]|not provided [RCV001683348] Chr20:25300762 [GRCh38]
Chr20:25281398 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000326437]|not provided [RCV001070173] Chr20:25323413 [GRCh38]
Chr20:25304049 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*320_*321del deletion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000382988] Chr20:25300524..25300525 [GRCh38]
Chr20:25281160..25281161 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.*321G>T single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000288684] Chr20:25300524 [GRCh38]
Chr20:25281160 [GRCh37]
Chr20:20p11.21
benign|likely benign
NM_001042472.3(ABHD12):c.*454G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000332184] Chr20:25300391 [GRCh38]
Chr20:25281027 [GRCh37]
Chr20:20p11.21
likely benign
null single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000379946]|not provided [RCV001672590] Chr20:25300697 [GRCh38]
Chr20:25281333 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.2(ABHD12):c.-221G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000334337] Chr20:25390924 [GRCh38]
Chr20:25371560 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000311548]|not provided [RCV000762340] Chr20:25308475 [GRCh38]
Chr20:25289111 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.*45G>C single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000340407] Chr20:25300800 [GRCh38]
Chr20:25281436 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.858A>C (p.Pro286=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000297381]|not provided [RCV001411319] Chr20:25307975 [GRCh38]
Chr20:25288611 [GRCh37]
Chr20:20p11.21
likely benign|uncertain significance
NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000399246]|not provided [RCV001458236] Chr20:25308031 [GRCh38]
Chr20:25288667 [GRCh37]
Chr20:20p11.21
likely benign|uncertain significance
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000625283]|not provided [RCV000887285]|not specified [RCV000615405] Chr20:25339341 [GRCh38]
Chr20:25319977 [GRCh37]
Chr20:20p11.21
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.1141C>T (p.Leu381=) single nucleotide variant not provided [RCV001520720]|not specified [RCV000336150] Chr20:25302235 [GRCh38]
Chr20:25282871 [GRCh37]
Chr20:20p11.21
benign|likely benign
NM_001042472.3(ABHD12):c.191+127C>T single nucleotide variant not provided [RCV001546791] Chr20:25390386 [GRCh38]
Chr20:25371022 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1158-98G>A single nucleotide variant not provided [RCV001566954] Chr20:25300982 [GRCh38]
Chr20:25281618 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.*414del deletion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000368074] Chr20:25300431 [GRCh38]
Chr20:25281067 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.2(ABHD12):c.-260G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000388933] Chr20:25390963 [GRCh38]
Chr20:25371599 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_015600.5(ABHD12):c.1157+2023C>T single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000393403] Chr20:25300196 [GRCh38]
Chr20:25280832 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.-118T>C single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000373803] Chr20:25390821 [GRCh38]
Chr20:25371457 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*353G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000328464] Chr20:25300492 [GRCh38]
Chr20:25281128 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.405C>A (p.Asp135Glu) single nucleotide variant not provided [RCV000730501] Chr20:25323342 [GRCh38]
Chr20:25303978 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.1092dup (p.His365fs) duplication not provided [RCV000599096] Chr20:25302283..25302284 [GRCh38]
Chr20:25282919..25282920 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1064G>A (p.Arg355Gln) single nucleotide variant not provided [RCV000597660] Chr20:25302312 [GRCh38]
Chr20:25282948 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.317-10T>A single nucleotide variant not provided [RCV000733591] Chr20:25323440 [GRCh38]
Chr20:25304076 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21(chr20:25061392-25468557)x3 copy number gain See cases [RCV000446220] Chr20:25061392..25468557 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter) single nucleotide variant Retinal dystrophy [RCV000504760] Chr20:25339350 [GRCh38]
Chr20:25319986 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.836G>A (p.Arg279His) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140159]|not provided [RCV000418476] Chr20:25307997 [GRCh38]
Chr20:25288633 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.620-2A>G single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001542617]|Retinal dystrophy [RCV000505023] Chr20:25309577 [GRCh38]
Chr20:25290213 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.212G>A (p.Arg71His) single nucleotide variant not provided [RCV000444480] Chr20:25339331 [GRCh38]
Chr20:25319967 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21(chr20:25061392-25482415)x3 copy number gain See cases [RCV000448276] Chr20:25061392..25482415 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 copy number gain See cases [RCV000448977] Chr20:24162775..31820857 [GRCh37]
Chr20:20p11.21-q11.21
likely pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21
pathogenic
GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1 copy number loss See cases [RCV000510621] Chr20:18500917..25847320 [GRCh37]
Chr20:20p11.23-11.1
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_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000656405]|not provided [RCV000524077] Chr20:25306909 [GRCh38]
Chr20:25287545 [GRCh37]
Chr20:20p11.21
pathogenic|likely pathogenic
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs) deletion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000585749] Chr20:25339320..25339332 [GRCh38]
Chr20:25319956..25319968 [GRCh37]
Chr20:20p11.21
pathogenic
GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3 copy number gain See cases [RCV000512500] Chr20:24876569..30494851 [GRCh37]
Chr20:20p11.21-q11.21
uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_001042472.3(ABHD12):c.447G>A (p.Trp149Ter) single nucleotide variant Cone dystrophy [RCV000678517] Chr20:25320294 [GRCh38]
Chr20:25300930 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV000677260] Chr20:25339294 [GRCh38]
Chr20:25319930 [GRCh37]
Chr20:20p11.21
pathogenic
Single allele duplication not provided [RCV000677978] Chr20:17705775..31600738 [GRCh37]
Chr20:20p12.1-q11.21
pathogenic
GRCh37/hg19 20p11.21(chr20:25061392-25482415)x3 copy number gain not provided [RCV000684116] Chr20:25061392..25482415 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.337_338del (p.Asp113fs) deletion not provided [RCV001579745] Chr20:25323409..25323410 [GRCh38]
Chr20:25304045..25304046 [GRCh37]
Chr20:20p11.21
pathogenic
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
null single nucleotide variant not provided [RCV001610954] Chr20:25301097 [GRCh38]
Chr20:25281733 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001692613] Chr20:25317273 [GRCh38]
Chr20:25297909 [GRCh37]
Chr20:20p11.21
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001549027]|not provided [RCV001647415] Chr20:25303707 [GRCh38]
Chr20:25284343 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001583469] Chr20:25303465 [GRCh38]
Chr20:25284101 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1092T>C (p.Phe364=) single nucleotide variant not provided [RCV000894208] Chr20:25302284 [GRCh38]
Chr20:25282920 [GRCh37]
Chr20:20p11.21
likely benign
null single nucleotide variant not provided [RCV001586187] Chr20:25308807 [GRCh38]
Chr20:25289443 [GRCh37]
Chr20:20p11.21
likely benign
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) single nucleotide variant not provided [RCV001648971] Chr20:25295207 [GRCh38]
Chr20:25275843 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001690271] Chr20:25301198 [GRCh38]
Chr20:25281834 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.191+24G>C single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001549198]|not provided [RCV001713035] Chr20:25390489 [GRCh38]
Chr20:25371125 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001584674] Chr20:25320311 [GRCh38]
Chr20:25300947 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.951-271T>C single nucleotide variant not provided [RCV001567435] Chr20:25303899 [GRCh38]
Chr20:25284535 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.835C>T (p.Arg279Cys) single nucleotide variant not provided [RCV000997757] Chr20:25307998 [GRCh38]
Chr20:25288634 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.970C>T (p.Pro324Ser) single nucleotide variant not provided [RCV001055281] Chr20:25303609 [GRCh38]
Chr20:25284245 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.929T>C (p.Ile310Thr) single nucleotide variant not provided [RCV001039025] Chr20:25306854 [GRCh38]
Chr20:25287490 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1131G>C (p.Lys377Asn) single nucleotide variant not provided [RCV001069368] Chr20:25302245 [GRCh38]
Chr20:25282881 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1145C>T (p.Pro382Leu) single nucleotide variant not provided [RCV001071701] Chr20:25302231 [GRCh38]
Chr20:25282867 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.709G>A (p.Asp237Asn) single nucleotide variant not provided [RCV001062723] Chr20:25309486 [GRCh38]
Chr20:25290122 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.259C>A (p.Pro87Thr) single nucleotide variant Retinal dystrophy [RCV001074495] Chr20:25339284 [GRCh38]
Chr20:25319920 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.620-16C>A single nucleotide variant Retinal dystrophy [RCV001075132] Chr20:25309591 [GRCh38]
Chr20:25290227 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.341dup (p.Leu114fs) duplication not provided [RCV000997759] Chr20:25323405..25323406 [GRCh38]
Chr20:25304041..25304042 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.951-9_951-6del microsatellite not provided [RCV000828314] Chr20:25303634..25303637 [GRCh38]
Chr20:25284270..25284273 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.783G>T (p.Glu261Asp) single nucleotide variant not provided [RCV000997758] Chr20:25308461 [GRCh38]
Chr20:25289097 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.338A>T (p.Asp113Val) single nucleotide variant not provided [RCV000997760] Chr20:25323409 [GRCh38]
Chr20:25304045 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.960C>T (p.His320=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001137914]|not provided [RCV001402813] Chr20:25303619 [GRCh38]
Chr20:25284255 [GRCh37]
Chr20:20p11.21
likely benign|uncertain significance
NM_001042472.3(ABHD12):c.1185G>A (p.Glu395=) single nucleotide variant not provided [RCV000827313] Chr20:25300857 [GRCh38]
Chr20:25281493 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.423-68C>T single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001549196]|not provided [RCV000836005] Chr20:25320386 [GRCh38]
Chr20:25301022 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.573+44T>C single nucleotide variant not provided [RCV000836007] Chr20:25317004 [GRCh38]
Chr20:25297640 [GRCh37]
Chr20:20p11.21
likely benign
GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3 copy number gain not provided [RCV000847453] Chr20:24232978..25520939 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.337G>T (p.Asp113Tyr) single nucleotide variant not provided [RCV000997761] Chr20:25323410 [GRCh38]
Chr20:25304046 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001137913] Chr20:25302332 [GRCh38]
Chr20:25282968 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.258del (p.Pro87fs) deletion not provided [RCV001008635] Chr20:25339285 [GRCh38]
Chr20:25319921 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.1075del (p.Val359fs) deletion not provided [RCV001009046] Chr20:25302301 [GRCh38]
Chr20:25282937 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.1006G>A (p.Val336Met) single nucleotide variant not provided [RCV001206382] Chr20:25303573 [GRCh38]
Chr20:25284209 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.870A>G (p.Ile290Met) single nucleotide variant not provided [RCV001210877] Chr20:25306913 [GRCh38]
Chr20:25287549 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1195_1196del (p.Ter399SerextTer?) deletion not provided [RCV001208517] Chr20:25300846..25300847 [GRCh38]
Chr20:25281482..25281483 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.413T>C (p.Ile138Thr) single nucleotide variant not provided [RCV001245289] Chr20:25323334 [GRCh38]
Chr20:25303970 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.710A>G (p.Asp237Gly) single nucleotide variant not provided [RCV001236771] Chr20:25309485 [GRCh38]
Chr20:25290121 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.741G>A (p.Leu247=) single nucleotide variant not provided [RCV001237330] Chr20:25309454 [GRCh38]
Chr20:25290090 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.749+1G>A single nucleotide variant not provided [RCV001245826] Chr20:25309445 [GRCh38]
Chr20:25290081 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.952G>A (p.Val318Met) single nucleotide variant not provided [RCV001230634] Chr20:25303627 [GRCh38]
Chr20:25284263 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.970C>G (p.Pro324Ala) single nucleotide variant not provided [RCV001240647] Chr20:25303609 [GRCh38]
Chr20:25284245 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.619G>A (p.Gly207Ser) single nucleotide variant not provided [RCV001203058] Chr20:25314925 [GRCh38]
Chr20:25295561 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001142764]|not provided [RCV001551242] Chr20:25390678 [GRCh38]
Chr20:25371314 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001641280] Chr20:25309907 [GRCh38]
Chr20:25290543 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.806T>C (p.Leu269Pro) single nucleotide variant not provided [RCV001240055] Chr20:25308027 [GRCh38]
Chr20:25288663 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1029+183C>T single nucleotide variant not provided [RCV001576705] Chr20:25303367 [GRCh38]
Chr20:25284003 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.867+253G>T single nucleotide variant not provided [RCV001577365] Chr20:25307713 [GRCh38]
Chr20:25288349 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.191+31_191+36del deletion Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001549197]|not provided [RCV001713128] Chr20:25390477..25390482 [GRCh38]
Chr20:25371113..25371118 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.191+36_191+37insGG insertion not provided [RCV001548448] Chr20:25390476..25390477 [GRCh38]
Chr20:25371112..25371113 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.787+119G>A single nucleotide variant not provided [RCV001553455] Chr20:25308338 [GRCh38]
Chr20:25288974 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1030-266T>C single nucleotide variant not provided [RCV001553482] Chr20:25302612 [GRCh38]
Chr20:25283248 [GRCh37]
Chr20:20p11.21
likely benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001717099] Chr20:25390477 [GRCh38]
Chr20:25371113 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.1157+327A>G single nucleotide variant not provided [RCV001533938] Chr20:25301892 [GRCh38]
Chr20:25282528 [GRCh37]
Chr20:20p11.21
benign
NM_001848.3(COL6A1):c.615G>A (p.Thr205=) microsatellite not provided [RCV001688533] Chr20:25294918..25294923 [GRCh38]
Chr20:25275554..25275559 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.788-23C>T single nucleotide variant not provided [RCV001561468] Chr20:25308068 [GRCh38]
Chr20:25288704 [GRCh37]
Chr20:20p11.21
likely benign
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) deletion not provided [RCV001593630] Chr20:25295122 [GRCh38]
Chr20:25275758 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.749+86C>T single nucleotide variant not provided [RCV001550854] Chr20:25309360 [GRCh38]
Chr20:25289996 [GRCh37]
Chr20:20p11.21
likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001651740] Chr20:25301990 [GRCh38]
Chr20:25282626 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001674347] Chr20:25315151 [GRCh38]
Chr20:25295787 [GRCh37]
Chr20:20p11.21
benign
NM_001813.3(CENPE):c.243T>C (p.Thr81=) single nucleotide variant not provided [RCV001581619] Chr20:25323256 [GRCh38]
Chr20:25303892 [GRCh37]
Chr20:20p11.21
likely benign
NM_032806.6(POMGNT2):c.465C>T (p.Ile155=) single nucleotide variant not provided [RCV001681000]|not specified [RCV001699594] Chr20:25294985 [GRCh38]
Chr20:25275621 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.607T>A (p.Phe203Ile) single nucleotide variant not provided [RCV001233626] Chr20:25314937 [GRCh38]
Chr20:25295573 [GRCh37]
Chr20:20p11.21
uncertain significance
null single nucleotide variant not provided [RCV001665121] Chr20:25303362 [GRCh38]
Chr20:25283998 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.*22A>G single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001142651]|not provided [RCV001550297] Chr20:25300823 [GRCh38]
Chr20:25281459 [GRCh37]
Chr20:20p11.21
likely benign|uncertain significance
NM_001042472.3(ABHD12):c.542+263G>A single nucleotide variant not provided [RCV001562634] Chr20:25319936 [GRCh38]
Chr20:25300572 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1030-175T>A single nucleotide variant not provided [RCV001567358] Chr20:25302521 [GRCh38]
Chr20:25283157 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.867+25T>A single nucleotide variant not provided [RCV001552511] Chr20:25307941 [GRCh38]
Chr20:25288577 [GRCh37]
Chr20:20p11.21
likely benign
null deletion not provided [RCV001609398] Chr20:25303265..25303266 [GRCh38]
Chr20:25283901..25283902 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.317-329C>T single nucleotide variant not provided [RCV001553169] Chr20:25323759 [GRCh38]
Chr20:25304395 [GRCh37]
Chr20:20p11.21
likely benign
null single nucleotide variant not provided [RCV001635779] Chr20:25309876 [GRCh38]
Chr20:25290512 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.574-52C>T single nucleotide variant not provided [RCV001553451] Chr20:25315022 [GRCh38]
Chr20:25295658 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.868-86T>A single nucleotide variant not provided [RCV001546667] Chr20:25307001 [GRCh38]
Chr20:25287637 [GRCh37]
Chr20:20p11.21
likely benign
null deletion not provided [RCV001614051] Chr20:25314679 [GRCh38]
Chr20:25295315 [GRCh37]
Chr20:20p11.21
benign
NM_001813.3(CENPE):c.243T>C (p.Thr81=) single nucleotide variant not provided [RCV001581688] Chr20:25308377 [GRCh38]
Chr20:25289013 [GRCh37]
Chr20:20p11.21
likely benign
null single nucleotide variant not provided [RCV001637655] Chr20:25301972 [GRCh38]
Chr20:25282608 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.750-285dup duplication not provided [RCV001572607] Chr20:25308778..25308779 [GRCh38]
Chr20:25289414..25289415 [GRCh37]
Chr20:20p11.21
likely benign
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) single nucleotide variant not provided [RCV001658729] Chr20:25295159 [GRCh38]
Chr20:25275795 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001671028] Chr20:25303881 [GRCh38]
Chr20:25284517 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001594174] Chr20:25390337 [GRCh38]
Chr20:25370973 [GRCh37]
Chr20:20p11.21
likely benign
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) single nucleotide variant not provided [RCV001598719] Chr20:25295234 [GRCh38]
Chr20:25275870 [GRCh37]
Chr20:20p11.21
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677239] Chr20:25303488 [GRCh38]
Chr20:25284124 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.665A>G (p.Tyr222Cys) single nucleotide variant not provided [RCV001036579] Chr20:25309530 [GRCh38]
Chr20:25290166 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1114C>T (p.His372Tyr) single nucleotide variant not provided [RCV001036897] Chr20:25302262 [GRCh38]
Chr20:25282898 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*541G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140043] Chr20:25300304 [GRCh38]
Chr20:25280940 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.542+6G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140162] Chr20:25320193 [GRCh38]
Chr20:25300829 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140919]|not provided [RCV001204105] Chr20:25339293 [GRCh38]
Chr20:25319929 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140921] Chr20:25390537 [GRCh38]
Chr20:25371173 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.792G>T (p.Thr264=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140160] Chr20:25308041 [GRCh38]
Chr20:25288677 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*331G>C single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140797] Chr20:25300514 [GRCh38]
Chr20:25281150 [GRCh37]
Chr20:20p11.21
uncertain significance
null single nucleotide variant not provided [RCV001671819] Chr20:25307869 [GRCh38]
Chr20:25288505 [GRCh37]
Chr20:20p11.21
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001713767] Chr20:25390751 [GRCh38]
Chr20:25371387 [GRCh37]
Chr20:20p11.21
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001678656] Chr20:25339592 [GRCh38]
Chr20:25320228 [GRCh37]
Chr20:20p11.21
benign
NM_058195.4(CDKN2A):c.193+1G>A single nucleotide variant not provided [RCV001614303] Chr20:25294981 [GRCh38]
Chr20:25275617 [GRCh37]
Chr20:20p11.21
benign
NM_058195.4(CDKN2A):c.193+1G>A single nucleotide variant not provided [RCV001609943] Chr20:25295254 [GRCh38]
Chr20:25275890 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001663283] Chr20:25323475 [GRCh38]
Chr20:25304111 [GRCh37]
Chr20:20p11.21
benign
null single nucleotide variant not provided [RCV001708959] Chr20:25323653 [GRCh38]
Chr20:25304289 [GRCh37]
Chr20:20p11.21
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001714480] Chr20:25323296 [GRCh38]
Chr20:25303932 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.191+26G>A single nucleotide variant not provided [RCV001546935] Chr20:25390487 [GRCh38]
Chr20:25371123 [GRCh37]
Chr20:20p11.21
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001682438] Chr20:25390489 [GRCh38]
Chr20:25371125 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.1029+211G>C single nucleotide variant not provided [RCV001566907] Chr20:25303339 [GRCh38]
Chr20:25283975 [GRCh37]
Chr20:20p11.21
likely benign
null single nucleotide variant not provided [RCV001583922] Chr20:25300832 [GRCh38]
Chr20:25281468 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1190A>G (p.Gln397Arg) single nucleotide variant not provided [RCV001226433] Chr20:25300852 [GRCh38]
Chr20:25281488 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.233G>A (p.Cys78Tyr) single nucleotide variant not provided [RCV001038536] Chr20:25339310 [GRCh38]
Chr20:25319946 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1036dup (p.Ser346fs) duplication Retinal dystrophy [RCV001073985] Chr20:25302339..25302340 [GRCh38]
Chr20:25282975..25282976 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.951-3C>T single nucleotide variant not provided [RCV001237961] Chr20:25303631 [GRCh38]
Chr20:25284267 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.573+8C>T single nucleotide variant not provided [RCV001232782] Chr20:25317040 [GRCh38]
Chr20:25297676 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.315C>T (p.Phe105=) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140918]|not provided [RCV001052213] Chr20:25339228 [GRCh38]
Chr20:25319864 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1
pathogenic
NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001137915] Chr20:25306908 [GRCh38]
Chr20:25287544 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*177C>T single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001142649] Chr20:25300668 [GRCh38]
Chr20:25281304 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.549C>T (p.Gly183=) single nucleotide variant not provided [RCV001203866] Chr20:25317072 [GRCh38]
Chr20:25297708 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.406G>A (p.Val136Met) single nucleotide variant not provided [RCV001227287] Chr20:25323341 [GRCh38]
Chr20:25303977 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.191+15G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140920]|not provided [RCV001472250] Chr20:25390498 [GRCh38]
Chr20:25371134 [GRCh37]
Chr20:20p11.21
likely benign|uncertain significance
NM_001042472.3(ABHD12):c.1043C>T (p.Ala348Val) single nucleotide variant not provided [RCV001230582] Chr20:25302333 [GRCh38]
Chr20:25282969 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1148G>A (p.Arg383Gln) single nucleotide variant not provided [RCV001233842] Chr20:25302228 [GRCh38]
Chr20:25282864 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.718G>A (p.Val240Met) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140161]|not provided [RCV001456141] Chr20:25309477 [GRCh38]
Chr20:25290113 [GRCh37]
Chr20:20p11.21
likely benign|uncertain significance
NM_001042472.3(ABHD12):c.1195T>C (p.Ter399Arg) single nucleotide variant not provided [RCV001237334] Chr20:25300847 [GRCh38]
Chr20:25281483 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*149G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001142650] Chr20:25300696 [GRCh38]
Chr20:25281332 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.571A>G (p.Lys191Glu) single nucleotide variant not provided [RCV001053292] Chr20:25317050 [GRCh38]
Chr20:25297686 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.*331G>A single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001140798] Chr20:25300514 [GRCh38]
Chr20:25281150 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.559G>A (p.Val187Met) single nucleotide variant not provided [RCV001202466] Chr20:25317062 [GRCh38]
Chr20:25297698 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1157+3G>A single nucleotide variant not provided [RCV001211271] Chr20:25302216 [GRCh38]
Chr20:25282852 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.751G>A (p.Val251Met) single nucleotide variant not provided [RCV001065991] Chr20:25308493 [GRCh38]
Chr20:25289129 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.755C>T (p.Ala252Val) single nucleotide variant Retinal dystrophy [RCV001074217] Chr20:25308489 [GRCh38]
Chr20:25289125 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.400G>T (p.Glu134Ter) single nucleotide variant Retinal dystrophy [RCV001074221] Chr20:25323347 [GRCh38]
Chr20:25303983 [GRCh37]
Chr20:20p11.21
likely pathogenic
NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001142763] Chr20:25390567 [GRCh38]
Chr20:25371203 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.750-4C>G single nucleotide variant Retinal dystrophy [RCV001075629] Chr20:25308498 [GRCh38]
Chr20:25289134 [GRCh37]
Chr20:20p11.21
uncertain significance
GRCh37/hg19 20p11.21(chr20:25295600-25397825)x1 copy number loss Intellectual disability [RCV001251059] Chr20:25295600..25397825 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.867+2C>T single nucleotide variant not provided [RCV001338578] Chr20:25307964 [GRCh38]
Chr20:25288600 [GRCh37]
Chr20:20p11.21
pathogenic|uncertain significance
NM_001042472.3(ABHD12):c.268A>G (p.Ile90Val) single nucleotide variant not provided [RCV001350164] Chr20:25339275 [GRCh38]
Chr20:25319911 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.316+296G>C single nucleotide variant not provided [RCV001545741] Chr20:25338931 [GRCh38]
Chr20:25319567 [GRCh37]
Chr20:20p11.21
likely benign
GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3 copy number gain not provided [RCV001258738] Chr20:19750804..30479077 [GRCh37]
Chr20:20p11.23-q11.21
likely pathogenic
NM_001042472.3(ABHD12):c.895T>C (p.Trp299Arg) single nucleotide variant not provided [RCV001337587] Chr20:25306888 [GRCh38]
Chr20:25287524 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.74C>T (p.Ser25Leu) single nucleotide variant not provided [RCV001320307] Chr20:25390630 [GRCh38]
Chr20:25371266 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.556C>T (p.Arg186Cys) single nucleotide variant not provided [RCV001321525] Chr20:25317065 [GRCh38]
Chr20:25297701 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.70G>A (p.Gly24Ser) single nucleotide variant not provided [RCV001340353] Chr20:25390634 [GRCh38]
Chr20:25371270 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.988G>A (p.Ala330Thr) single nucleotide variant not provided [RCV001342804] Chr20:25303591 [GRCh38]
Chr20:25284227 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.572A>G (p.Lys191Arg) single nucleotide variant not provided [RCV001341273] Chr20:25317049 [GRCh38]
Chr20:25297685 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.470A>C (p.Gln157Pro) single nucleotide variant not provided [RCV001352001] Chr20:25320271 [GRCh38]
Chr20:25300907 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.540C>T (p.Thr180=) single nucleotide variant not provided [RCV001412345] Chr20:25320201 [GRCh38]
Chr20:25300837 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.451A>C (p.Asn151His) single nucleotide variant not provided [RCV001368314] Chr20:25320290 [GRCh38]
Chr20:25300926 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.804C>T (p.Ala268=) single nucleotide variant not provided [RCV001433189] Chr20:25308029 [GRCh38]
Chr20:25288665 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln) single nucleotide variant Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [RCV001334711] Chr20:25309542 [GRCh38]
Chr20:25290178 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.135G>A (p.Pro45=) single nucleotide variant not provided [RCV001318442] Chr20:25390569 [GRCh38]
Chr20:25371205 [GRCh37]
Chr20:20p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001042472.3(ABHD12):c.844G>A (p.Ala282Thr) single nucleotide variant not provided [RCV001299924] Chr20:25307989 [GRCh38]
Chr20:25288625 [GRCh37]
Chr20:20p11.21
uncertain significance
NC_000020.10:g.(?_25281481)_(25290231_?)dup duplication not provided [RCV001364820] Chr20:25281481..25290231 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.272A>C (p.Lys91Thr) single nucleotide variant not provided [RCV001337676] Chr20:25339271 [GRCh38]
Chr20:25319907 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.403G>A (p.Asp135Asn) single nucleotide variant not provided [RCV001297867] Chr20:25323344 [GRCh38]
Chr20:25303980 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.656G>A (p.Gly219Asp) single nucleotide variant not provided [RCV001344784] Chr20:25309539 [GRCh38]
Chr20:25290175 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.991G>A (p.Glu331Lys) single nucleotide variant not provided [RCV001362831] Chr20:25303588 [GRCh38]
Chr20:25284224 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.656G>T (p.Gly219Val) single nucleotide variant not provided [RCV001344877] Chr20:25309539 [GRCh38]
Chr20:25290175 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.641C>T (p.Thr214Met) single nucleotide variant not provided [RCV001365103] Chr20:25309554 [GRCh38]
Chr20:25290190 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.134C>G (p.Pro45Arg) single nucleotide variant not provided [RCV001298061] Chr20:25390570 [GRCh38]
Chr20:25371206 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.129G>A (p.Thr43=) single nucleotide variant not provided [RCV001315902] Chr20:25390575 [GRCh38]
Chr20:25371211 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.296A>G (p.Lys99Arg) single nucleotide variant not provided [RCV001325752] Chr20:25339247 [GRCh38]
Chr20:25319883 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.36T>G (p.His12Gln) single nucleotide variant not provided [RCV001372606] Chr20:25390668 [GRCh38]
Chr20:25371304 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1157G>A (p.Arg386Lys) single nucleotide variant not provided [RCV001374299] Chr20:25302219 [GRCh38]
Chr20:25282855 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.61TCC[2] (p.Ser23del) microsatellite not provided [RCV001339378] Chr20:25390635..25390637 [GRCh38]
Chr20:25371271..25371273 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1075G>A (p.Val359Ile) single nucleotide variant not provided [RCV001306173] Chr20:25302301 [GRCh38]
Chr20:25282937 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.871T>C (p.Tyr291His) single nucleotide variant not provided [RCV001343223] Chr20:25306912 [GRCh38]
Chr20:25287548 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg) single nucleotide variant not provided [RCV001295734] Chr20:25303612 [GRCh38]
Chr20:25284248 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.598G>A (p.Val200Met) single nucleotide variant not provided [RCV001343290] Chr20:25314946 [GRCh38]
Chr20:25295582 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.766G>A (p.Val256Met) single nucleotide variant not provided [RCV001344594] Chr20:25308478 [GRCh38]
Chr20:25289114 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.758C>G (p.Thr253Arg) single nucleotide variant not provided [RCV001350277] Chr20:25308486 [GRCh38]
Chr20:25289122 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.1055G>A (p.Arg352Gln) single nucleotide variant not provided [RCV001371509] Chr20:25302321 [GRCh38]
Chr20:25282957 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.532G>A (p.Ala178Thr) single nucleotide variant not provided [RCV001366652] Chr20:25320209 [GRCh38]
Chr20:25300845 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.83C>G (p.Ala28Gly) single nucleotide variant not provided [RCV001371728] Chr20:25390621 [GRCh38]
Chr20:25371257 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.280C>G (p.Pro94Ala) single nucleotide variant not provided [RCV001371749] Chr20:25339263 [GRCh38]
Chr20:25319899 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.838G>A (p.Glu280Lys) single nucleotide variant Hearing impairment [RCV001375317] Chr20:25307995 [GRCh38]
Chr20:25288631 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.551A>T (p.Asp184Val) single nucleotide variant not provided [RCV001306191] Chr20:25317070 [GRCh38]
Chr20:25297706 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.619+7T>G single nucleotide variant not provided [RCV001396070] Chr20:25314918 [GRCh38]
Chr20:25295554 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val) single nucleotide variant not provided [RCV001365952] Chr20:25309575 [GRCh38]
Chr20:25290211 [GRCh37]
Chr20:20p11.21
uncertain significance
NM_001042472.3(ABHD12):c.191+10C>T single nucleotide variant not provided [RCV001490573] Chr20:25390503 [GRCh38]
Chr20:25371139 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.118C>G (p.Leu40Val) single nucleotide variant not provided [RCV001490678] Chr20:25390586 [GRCh38]
Chr20:25371222 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.868-7T>C single nucleotide variant not provided [RCV001484914] Chr20:25306922 [GRCh38]
Chr20:25287558 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.633A>G (p.Ser211=) single nucleotide variant not provided [RCV001465209] Chr20:25309562 [GRCh38]
Chr20:25290198 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.317-5T>C single nucleotide variant not provided [RCV001466257] Chr20:25323435 [GRCh38]
Chr20:25304071 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1071C>T (p.Phe357=) single nucleotide variant not provided [RCV001442357] Chr20:25302305 [GRCh38]
Chr20:25282941 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1158-6G>T single nucleotide variant not provided [RCV001492957] Chr20:25300890 [GRCh38]
Chr20:25281526 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.552C>T (p.Asp184=) single nucleotide variant not provided [RCV001487572] Chr20:25317069 [GRCh38]
Chr20:25297705 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.316+2T>A single nucleotide variant not provided [RCV001386507] Chr20:25339225 [GRCh38]
Chr20:25319861 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.189C>G (p.Gly63=) single nucleotide variant not provided [RCV001518370] Chr20:25390515 [GRCh38]
Chr20:25371151 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.316+8G>A single nucleotide variant not provided [RCV001445940] Chr20:25339219 [GRCh38]
Chr20:25319855 [GRCh37]
Chr20:20p11.21
likely benign
NC_000020.10:g.(?_25295561)_(25300954_?)del deletion not provided [RCV001384879] Chr20:25295561..25300954 [GRCh37]
Chr20:20p11.21
pathogenic
NM_001042472.3(ABHD12):c.787+12G>C single nucleotide variant not provided [RCV001403142] Chr20:25308445 [GRCh38]
Chr20:25289081 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.542+319C>T single nucleotide variant not provided [RCV001540495] Chr20:25319880 [GRCh38]
Chr20:25300516 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.375G>A (p.Thr125=) single nucleotide variant not provided [RCV001398062] Chr20:25323372 [GRCh38]
Chr20:25304008 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1047A>G (p.Ala349=) single nucleotide variant not provided [RCV001403569] Chr20:25302329 [GRCh38]
Chr20:25282965 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1157+102G>A single nucleotide variant not provided [RCV001534275] Chr20:25302117 [GRCh38]
Chr20:25282753 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.788-7del deletion not provided [RCV001438896] Chr20:25308052 [GRCh38]
Chr20:25288688 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.267C>T (p.Leu89=) single nucleotide variant not provided [RCV001437892] Chr20:25339276 [GRCh38]
Chr20:25319912 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.879C>T (p.Tyr293=) single nucleotide variant not provided [RCV001442650] Chr20:25306904 [GRCh38]
Chr20:25287540 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.750-259G>A single nucleotide variant not provided [RCV001575756] Chr20:25308753 [GRCh38]
Chr20:25289389 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1157+214C>T single nucleotide variant not provided [RCV001536509] Chr20:25302005 [GRCh38]
Chr20:25282641 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.726C>T (p.Ile242=) single nucleotide variant not provided [RCV001495449] Chr20:25309469 [GRCh38]
Chr20:25290105 [GRCh37]
Chr20:20p11.21
likely benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001684488] Chr20:25309241 [GRCh38]
Chr20:25289877 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.573+7G>A single nucleotide variant not provided [RCV001496084] Chr20:25317041 [GRCh38]
Chr20:25297677 [GRCh37]
Chr20:20p11.21
likely benign
NM_001256864.2(DNAJC6):c.544-9C>T single nucleotide variant not provided [RCV001615720] Chr20:25390601 [GRCh38]
Chr20:25371237 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.191+19C>G single nucleotide variant not provided [RCV001539073] Chr20:25390494 [GRCh38]
Chr20:25371130 [GRCh37]
Chr20:20p11.21
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001687688] Chr20:25303354 [GRCh38]
Chr20:25283990 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.1029+10G>C single nucleotide variant not provided [RCV001477357] Chr20:25303540 [GRCh38]
Chr20:25284176 [GRCh37]
Chr20:20p11.21
likely benign
null single nucleotide variant not provided [RCV001614498] Chr20:25390499 [GRCh38]
Chr20:25371135 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.621T>C (p.Gly207=) single nucleotide variant not provided [RCV001477972] Chr20:25309574 [GRCh38]
Chr20:25290210 [GRCh37]
Chr20:20p11.21
likely benign
null single nucleotide variant not provided [RCV001675159] Chr20:25390496 [GRCh38]
Chr20:25371132 [GRCh37]
Chr20:20p11.21
benign
NM_001042472.3(ABHD12):c.405C>T (p.Asp135=) single nucleotide variant not provided [RCV001426853] Chr20:25323342 [GRCh38]
Chr20:25303978 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.558C>T (p.Arg186=) single nucleotide variant not provided [RCV001425189] Chr20:25317063 [GRCh38]
Chr20:25297699 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.987C>T (p.His329=) single nucleotide variant not provided [RCV001485917] Chr20:25303592 [GRCh38]
Chr20:25284228 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1143G>C (p.Leu381=) single nucleotide variant not provided [RCV001487802] Chr20:25302233 [GRCh38]
Chr20:25282869 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.868-4C>A single nucleotide variant not provided [RCV001470874] Chr20:25306919 [GRCh38]
Chr20:25287555 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.792G>A (p.Thr264=) single nucleotide variant not provided [RCV001461576] Chr20:25308041 [GRCh38]
Chr20:25288677 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.867+8_867+9del deletion not provided [RCV001441062] Chr20:25307957..25307958 [GRCh38]
Chr20:25288593..25288594 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.788-11T>G single nucleotide variant not provided [RCV001441139] Chr20:25308056 [GRCh38]
Chr20:25288692 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.1029+8C>T single nucleotide variant not provided [RCV001407154] Chr20:25303542 [GRCh38]
Chr20:25284178 [GRCh37]
Chr20:20p11.21
likely benign
NM_001042472.3(ABHD12):c.191+12C>G single nucleotide variant not provided [RCV001463850] Chr20:25390501 [GRCh38]
Chr20:25371137 [GRCh37]
Chr20:20p11.21
likely benign
NC_000020.10:g.(?_25371129)_(25371339_?)del deletion not provided [RCV001384878] Chr20:25371129..25371339 [GRCh37]
Chr20:20p11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15868 AgrOrtholog
COSMIC ABHD12 COSMIC
Ensembl Genes ENSG00000100997 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000341408 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365725 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413311 UniProtKB/TrEMBL
  ENSP00000459121 UniProtKB/TrEMBL
  ENSP00000459278 UniProtKB/TrEMBL
  ENSP00000459495 UniProtKB/TrEMBL
  ENSP00000460249 UniProtKB/TrEMBL
  ENSP00000460950 UniProtKB/TrEMBL
  ENSP00000499839 UniProtKB/TrEMBL
  ENSP00000499868 UniProtKB/TrEMBL
  ENSP00000499945 UniProtKB/TrEMBL
  ENSP00000499949 UniProtKB/TrEMBL
  ENSP00000500062 UniProtKB/TrEMBL
  ENSP00000500106 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000500208 UniProtKB/TrEMBL
  ENSP00000500257 UniProtKB/TrEMBL
  ENSP00000500286 UniProtKB/TrEMBL
  ENSP00000500290 UniProtKB/TrEMBL
  ENSP00000500316 UniProtKB/TrEMBL
  ENSP00000500451 UniProtKB/TrEMBL
  ENSP00000500514 UniProtKB/TrEMBL
  ENSP00000500550 UniProtKB/TrEMBL
Ensembl Transcript ENST00000339157 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376542 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450393 UniProtKB/TrEMBL
  ENST00000461204 UniProtKB/TrEMBL
  ENST00000465694 UniProtKB/TrEMBL
  ENST00000471287 UniProtKB/TrEMBL
  ENST00000491682 UniProtKB/TrEMBL
  ENST00000576316 UniProtKB/TrEMBL
  ENST00000671784 UniProtKB/TrEMBL
  ENST00000671858 UniProtKB/TrEMBL
  ENST00000672114 UniProtKB/TrEMBL
  ENST00000672258 UniProtKB/TrEMBL
  ENST00000672331 UniProtKB/TrEMBL
  ENST00000672358 UniProtKB/TrEMBL
  ENST00000672406 UniProtKB/TrEMBL
  ENST00000672566 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000672596 UniProtKB/TrEMBL
  ENST00000672871 UniProtKB/TrEMBL
  ENST00000673094 UniProtKB/TrEMBL
  ENST00000673121 UniProtKB/TrEMBL
  ENST00000673227 UniProtKB/TrEMBL
  ENST00000673524 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100997 GTEx
HGNC ID HGNC:15868 ENTREZGENE
Human Proteome Map ABHD12 Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AB_hydrolase_1 UniProtKB/TrEMBL
  ABHD12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydrolase_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26090 UniProtKB/Swiss-Prot
NCBI Gene 26090 ENTREZGENE
OMIM 612674 OMIM
  613599 OMIM
PANTHER PTHR12277:SF61 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Abhydrolase_1 UniProtKB/TrEMBL
  Hydrolase_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25738 PharmGKB
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZGT4_HUMAN UniProtKB/TrEMBL
  A0A5F9ZGW7_HUMAN UniProtKB/TrEMBL
  A0A5F9ZGZ9_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH28_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH49_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH71_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHB5_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHE8_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHF0_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHG5_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHH2_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHM3_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHQ0_HUMAN UniProtKB/TrEMBL
  A0A5F9ZHQ8_HUMAN UniProtKB/TrEMBL
  ABD12_HUMAN UniProtKB/Swiss-Prot
  I3L1V0_HUMAN UniProtKB/TrEMBL
  I3L206_HUMAN UniProtKB/TrEMBL
  I3L294_HUMAN UniProtKB/TrEMBL
  I3L380_HUMAN UniProtKB/TrEMBL
  I3L440_HUMAN UniProtKB/TrEMBL
  Q5T712_HUMAN UniProtKB/TrEMBL
  Q8N2K0 ENTREZGENE
UniProt Secondary A6NED4 UniProtKB/Swiss-Prot
  A6NJ90 UniProtKB/Swiss-Prot
  A8K450 UniProtKB/Swiss-Prot
  B4DE71 UniProtKB/Swiss-Prot
  Q5T710 UniProtKB/Swiss-Prot
  Q5T711 UniProtKB/Swiss-Prot
  Q96CR1 UniProtKB/Swiss-Prot
  Q9BX05 UniProtKB/Swiss-Prot
  Q9NPX7 UniProtKB/Swiss-Prot
  Q9UFV6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-01-28 ABHD12  abhydrolase domain containing 12, lysophospholipase  ABHD12  abhydrolase domain containing 12  Symbol and/or name change 5135510 APPROVED