YARS2 (tyrosyl-tRNA synthetase 2) - Rat Genome Database

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Gene: YARS2 (tyrosyl-tRNA synthetase 2) Homo sapiens
Analyze
Symbol: YARS2
Name: tyrosyl-tRNA synthetase 2
RGD ID: 1606290
HGNC Page HGNC
Description: Enables several functions, including protein homodimerization activity; tyrosine binding activity; and tyrosine-tRNA ligase activity. Involved in mitochondrial tyrosyl-tRNA aminoacylation. Located in mitochondrion and nuclear body. Implicated in myopathy, lactic acidosis, and sideroblastic anemia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CGI-04; FLJ13995; MLASA2; mt-TyrRS; tyrosine tRNA ligase 2, mitochondrial; tyrosine--tRNA ligase; tyrosine--tRNA ligase, mitochondrial; tyrosyl-tRNA synthetase 2, mitochondrial; tyrosyl-tRNA synthetase, mitochondrial; TYRRS
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 Ensembl1232,727,490 - 32,755,897 (-)EnsemblGRCh38hg38GRCh38
GRCh381232,725,247 - 32,756,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371232,899,478 - 32,908,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361232,790,726 - 32,800,141 (-)NCBINCBI36hg18NCBI36
Celera1212,720,156 - 12,729,572 (-)NCBI
Cytogenetic Map12p11.21NCBI
HuRef1232,651,954 - 32,661,361 (-)NCBIHuRef
CHM1_11232,865,980 - 32,875,403 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA)
mitochondrial matrix  (TAS)
mitochondrion  (IBA,IC,IDA,NAS,TAS)
nuclear body  (IDA)

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:10810093   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15779907   PMID:15840810   PMID:16344560   PMID:17353931   PMID:17672918   PMID:17997975   PMID:19615732  
PMID:20186120   PMID:20360068   PMID:20598274   PMID:20877624   PMID:21145461   PMID:21873635   PMID:22504945   PMID:22681889   PMID:22939629   PMID:24344687   PMID:24457600   PMID:25416956  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26647310   PMID:27499296   PMID:27542412   PMID:28190767   PMID:28380382   PMID:28395030   PMID:28514442   PMID:28515276  
PMID:28986522   PMID:29229926   PMID:29395067   PMID:29568061   PMID:29802200   PMID:29976739   PMID:30021884   PMID:30026338   PMID:30948266   PMID:31056421   PMID:31091453   PMID:31536960  
PMID:31586073   PMID:31685661   PMID:32296183   PMID:32694731   PMID:32877691   PMID:34079125  


Genomics

Comparative Map Data
YARS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1232,727,490 - 32,755,897 (-)EnsemblGRCh38hg38GRCh38
GRCh381232,725,247 - 32,756,458 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371232,899,478 - 32,908,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361232,790,726 - 32,800,141 (-)NCBINCBI36hg18NCBI36
Celera1212,720,156 - 12,729,572 (-)NCBI
Cytogenetic Map12p11.21NCBI
HuRef1232,651,954 - 32,661,361 (-)NCBIHuRef
CHM1_11232,865,980 - 32,875,403 (-)NCBICHM1_1
Yars2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391616,120,829 - 16,127,504 (+)NCBIGRCm39mm39
GRCm39 Ensembl1616,120,829 - 16,127,504 (+)Ensembl
GRCm381616,302,965 - 16,309,640 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1616,302,965 - 16,309,640 (+)EnsemblGRCm38mm10GRCm38
MGSCv371616,303,075 - 16,309,721 (+)NCBIGRCm37mm9NCBIm37
MGSCv361616,216,560 - 16,223,206 (+)NCBImm8
Celera1616,874,023 - 16,880,669 (+)NCBICelera
Cytogenetic Map16A2NCBI
Yars2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21184,632,350 - 84,638,138 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1188,882,616 - 88,888,377 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01188,882,615 - 88,888,377 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01191,936,942 - 91,942,704 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41186,609,037 - 86,614,799 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11186,649,633 - 86,655,395 (+)NCBI
Celera1183,377,810 - 83,383,571 (-)NCBICelera
Cytogenetic Map11q23NCBI
Yars2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555053,004,146 - 3,010,735 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555053,004,084 - 3,011,003 (+)NCBIChiLan1.0ChiLan1.0
YARS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11256,065,505 - 56,076,026 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1256,065,505 - 56,076,026 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01253,463,086 - 53,493,352 (+)NCBIMhudiblu_PPA_v0panPan3
YARS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12716,139,462 - 16,162,701 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2716,139,499 - 16,161,147 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2730,259,986 - 30,287,139 (-)NCBI
ROS_Cfam_1.02716,320,190 - 16,347,401 (+)NCBI
UMICH_Zoey_3.12716,128,784 - 16,155,906 (+)NCBI
UNSW_CanFamBas_1.02716,161,357 - 16,188,536 (+)NCBI
UU_Cfam_GSD_1.02730,407,857 - 30,435,045 (-)NCBI
Yars2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494576,731,948 - 76,747,507 (+)NCBI
SpeTri2.0NW_0049366073,565,333 - 3,590,499 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
YARS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl541,561,626 - 41,584,818 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1541,561,563 - 41,584,534 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
YARS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11132,181,214 - 32,192,654 (-)NCBI
ChlSab1.1 Ensembl1132,181,397 - 32,192,454 (-)Ensembl
Vero_WHO_p1.0NW_0236660692,704,100 - 2,717,210 (+)NCBI
Yars2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247783,382,993 - 3,390,357 (+)NCBI

Position Markers
G35326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371232,900,027 - 32,900,144UniSTSGRCh37
Build 361232,791,294 - 32,791,411RGDNCBI36
Celera1212,720,724 - 12,720,841RGD
Cytogenetic Map12p11.21UniSTS
HuRef1232,652,503 - 32,652,620UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:693
Count of miRNA genes:557
Interacting mature miRNAs:609
Transcripts:ENST00000324868, ENST00000548490, ENST00000551673
Prediction methods: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 965 537 882 283 1014 141 2660 381 1081 298 1266 1073 156 1 977 1388 5 2
Low 1474 2445 844 341 930 324 1697 1814 2652 121 194 540 19 227 1400 1
Below cutoff 8 6 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001040436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_242892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI861961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM979973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF594113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA748673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EB386795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324868   ⟹   ENSP00000320658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1232,746,544 - 32,755,897 (-)Ensembl
RefSeq Acc Id: ENST00000548490   ⟹   ENSP00000447710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1232,747,204 - 32,755,796 (-)Ensembl
RefSeq Acc Id: ENST00000551673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1232,727,490 - 32,750,107 (-)Ensembl
RefSeq Acc Id: NM_001040436   ⟹   NP_001035526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381232,746,544 - 32,755,897 (-)NCBI
GRCh371232,878,195 - 32,908,895 (-)NCBI
Build 361232,790,726 - 32,800,141 (-)NCBI Archive
Celera1212,720,156 - 12,729,572 (-)RGD
HuRef1232,651,954 - 32,661,361 (-)ENTREZGENE
CHM1_11232,865,980 - 32,875,403 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001748730
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381232,725,247 - 32,756,458 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002957331
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381232,727,071 - 32,756,458 (-)NCBI
Sequence:
RefSeq Acc Id: XR_242892
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381232,725,247 - 32,756,458 (-)NCBI
GRCh371232,878,195 - 32,908,895 (-)NCBI
Sequence:
RefSeq Acc Id: XR_931296
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381232,744,849 - 32,756,458 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001035526   ⟸   NM_001040436
- Peptide Label: precursor
- UniProtKB: Q9Y2Z4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000447710   ⟸   ENST00000548490
RefSeq Acc Id: ENSP00000320658   ⟸   ENST00000324868

Promoters
RGD ID:7223601
Promoter ID:EPDNEW_H17546
Type:initiation region
Name:YARS2_1
Description:tyrosyl-tRNA synthetase 2
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
GRCh381232,755,897 - 32,755,957EPDNEW
RGD ID:6790672
Promoter ID:HG_KWN:15333
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:NM_001040436
Position:
Human AssemblyChrPosition (strand)Source
Build 361232,799,461 - 32,800,237 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000012.11:g.(?_32729272)_(33049685_?)dup duplication Arrhythmogenic right ventricular dysplasia 9 [RCV000545183] Chr12:32576338..32896751 [GRCh38]
Chr12:32729272..33049685 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000001111]|not provided [RCV000292649] Chr12:32755719 [GRCh38]
Chr12:32908653 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
NM_001040436.3(YARS2):c.137G>A (p.Gly46Asp) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088671]|not provided [RCV000255137] Chr12:32755738 [GRCh38]
Chr12:32908672 [GRCh37]
Chr12:12p11.21
pathogenic
NM_001040436.3(YARS2):c.572G>A (p.Gly191Asp) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088672] Chr12:32755303 [GRCh38]
Chr12:32908237 [GRCh37]
Chr12:12p11.21
pathogenic
NM_001040436.3(YARS2):c.1078C>T (p.Arg360Ter) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088673] Chr12:32750744 [GRCh38]
Chr12:32903678 [GRCh37]
Chr12:12p11.21
pathogenic
NM_001040436.3(YARS2):c.1303A>G (p.Ser435Gly) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000088674] Chr12:32747335 [GRCh38]
Chr12:32900269 [GRCh37]
Chr12:12p11.21
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p11.21(chr12:32731855-32881857)x3 copy number gain See cases [RCV000053672] Chr12:32731855..32881857 [GRCh38]
Chr12:32884789..33034791 [GRCh37]
Chr12:32776056..32926058 [NCBI36]
Chr12:12p11.21
pathogenic
NM_012062.5(DNM1L):c.1184C>A (p.Ala395Asp) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000006386] Chr12:32731118 [GRCh38]
Chr12:32884052 [GRCh37]
Chr12:12p11.21
pathogenic
NM_012062.5(DNM1L):c.1470A>G (p.Glu490=) single nucleotide variant not provided [RCV000676347]|not specified [RCV000124756] Chr12:32733738 [GRCh38]
Chr12:32886672 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.1968C>T (p.Leu656=) single nucleotide variant not provided [RCV000675860]|not specified [RCV000124757] Chr12:32740492 [GRCh38]
Chr12:32893426 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000311394]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000408199]|not provided [RCV000905892]|not specified [RCV000126348] Chr12:32755419 [GRCh38]
Chr12:32908353 [GRCh37]
Chr12:12p11.21
benign|uncertain significance
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000393673]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000301319]|not provided [RCV000957055]|not specified [RCV000126349] Chr12:32750796 [GRCh38]
Chr12:32903730 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_001040436.3(YARS2):c.1103+18T>C single nucleotide variant not specified [RCV000126350] Chr12:32750701 [GRCh38]
Chr12:32903635 [GRCh37]
Chr12:12p11.21
benign
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000362476]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000310151]|not provided [RCV000676971]|not specified [RCV000126351] Chr12:32755584 [GRCh38]
Chr12:32908518 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_001040436.3(YARS2):c.342C>T (p.Gly114=) single nucleotide variant not provided [RCV000883359]|not specified [RCV000126352] Chr12:32755533 [GRCh38]
Chr12:32908467 [GRCh37]
Chr12:12p11.21
benign
NM_001040436.3(YARS2):c.404_405del (p.Glu135fs) microsatellite Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001333673] Chr12:32755470..32755471 [GRCh38]
Chr12:32908404..32908405 [GRCh37]
Chr12:12p11.21
pathogenic
GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 copy number loss See cases [RCV000133858] Chr12:25263833..34064528 [GRCh38]
Chr12:25416767..34217463 [GRCh37]
Chr12:25308034..34108730 [NCBI36]
Chr12:12p12.1-11.1
pathogenic
GRCh38/hg38 12p11.21-11.1(chr12:32672401-33313056)x3 copy number gain See cases [RCV000135581] Chr12:32672401..33313056 [GRCh38]
Chr12:32825335..33465991 [GRCh37]
Chr12:32716602..33357258 [NCBI36]
Chr12:12p11.21-11.1
uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000191148] Chr12:32755124 [GRCh38]
Chr12:32908058 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_001040436.3(YARS2):c.359dup (p.Asp121fs) duplication Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000191147] Chr12:32755515..32755516 [GRCh38]
Chr12:32908449..32908450 [GRCh37]
Chr12:12p11.21
pathogenic
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000239677]|Inborn genetic diseases [RCV000622584]|Optic atrophy 5 [RCV000850522]|not provided [RCV000200196] Chr12:32731362 [GRCh38]
Chr12:32884296 [GRCh37]
Chr12:12p11.21
pathogenic|uncertain significance
NM_012062.5(DNM1L):c.1651G>A (p.Ala551Thr) single nucleotide variant not provided [RCV000200424] Chr12:32737919 [GRCh38]
Chr12:32890853 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1639C>T (p.Pro547Ser) single nucleotide variant not provided [RCV000196481] Chr12:32737907 [GRCh38]
Chr12:32890841 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1645C>T (p.Pro549Ser) single nucleotide variant not provided [RCV000196608] Chr12:32737913 [GRCh38]
Chr12:32890847 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.374G>C (p.Arg125Pro) single nucleotide variant not provided [RCV000196700] Chr12:32755501 [GRCh38]
Chr12:32908435 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_001040436.3(YARS2):c.883G>A (p.Asp295Asn) single nucleotide variant not specified [RCV000197128] Chr12:32753982 [GRCh38]
Chr12:32906916 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.1275-2dup duplication not provided [RCV000224099]|not specified [RCV000197524] Chr12:32747364..32747365 [GRCh38]
Chr12:32900298..32900299 [GRCh37]
Chr12:12p11.21
conflicting interpretations of pathogenicity|uncertain significance
NM_001040436.3(YARS2):c.948G>A (p.Arg316=) single nucleotide variant not provided [RCV000197736] Chr12:32750874 [GRCh38]
Chr12:32903808 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.928C>T (p.Pro310Ser) single nucleotide variant not provided [RCV000197920] Chr12:32753937 [GRCh38]
Chr12:32906871 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1640C>T (p.Pro547Leu) single nucleotide variant not specified [RCV000198006] Chr12:32737908 [GRCh38]
Chr12:32890842 [GRCh37]
Chr12:12p11.21
likely pathogenic|likely benign
NM_012062.5(DNM1L):c.1885-15del deletion not provided [RCV001516215]|not specified [RCV000198062] Chr12:32740390 [GRCh38]
Chr12:32893324 [GRCh37]
Chr12:12p11.21
pathogenic|benign
NM_012062.5(DNM1L):c.2032G>A (p.Val678Met) single nucleotide variant not provided [RCV000198330] Chr12:32742626 [GRCh38]
Chr12:32895560 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1649C>A (p.Ala550Asp) single nucleotide variant not specified [RCV000198556] Chr12:32737917 [GRCh38]
Chr12:32890851 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000322253]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000374549]|not provided [RCV000515039]|not specified [RCV000198966] Chr12:32755771 [GRCh38]
Chr12:32908705 [GRCh37]
Chr12:12p11.21
benign|likely benign|uncertain significance
NM_012062.5(DNM1L):c.1648G>A (p.Ala550Thr) single nucleotide variant not provided [RCV000199095] Chr12:32737916 [GRCh38]
Chr12:32890850 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.1200+9G>A single nucleotide variant not provided [RCV000875990]|not specified [RCV000195467] Chr12:32731143 [GRCh38]
Chr12:32884077 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000988809]|not specified [RCV000195517] Chr12:32740190 [GRCh38]
Chr12:32893124 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu) single nucleotide variant not provided [RCV000195520] Chr12:32753932 [GRCh38]
Chr12:32906866 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113499]|not specified [RCV000195740] Chr12:32755673 [GRCh38]
Chr12:32908607 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_001040436.3(YARS2):c.1396A>G (p.Lys466Glu) single nucleotide variant not provided [RCV000199469] Chr12:32747242 [GRCh38]
Chr12:32900176 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_001040436.3(YARS2):c.1360_1362delinsGA (p.Ile454fs) indel not provided [RCV000199754] Chr12:32747276..32747278 [GRCh38]
Chr12:32900210..32900212 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_001040436.3(YARS2):c.236G>T (p.Gly79Val) single nucleotide variant not provided [RCV000199921] Chr12:32755639 [GRCh38]
Chr12:32908573 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_012062.4(DNM1L):c.1184C>G (p.Ala395Gly) single nucleotide variant not provided [RCV000200151] Chr12:32731118 [GRCh38]
Chr12:32884052 [GRCh37]
Chr12:12p11.21
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12
pathogenic
NM_012062.5(DNM1L):c.2135A>C (p.Glu712Ala) single nucleotide variant not provided [RCV000756031] Chr12:32742729 [GRCh38]
Chr12:32895663 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000237095] Chr12:32731492 [GRCh38]
Chr12:32884426 [GRCh37]
Chr12:12p11.21
likely pathogenic
Single allele insertion not provided [RCV000224099] Chr12:32900298..32900299 [GRCh37] uncertain significance
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000239637] Chr12:32731019 [GRCh38]
Chr12:32883953 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
NM_012062.5(DNM1L):c.1084G>A (p.Gly362Ser) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000239681] Chr12:32731018 [GRCh38]
Chr12:32883952 [GRCh37]
Chr12:12p11.21
pathogenic
GRCh37/hg19 12p11.21(chr12:32896340-32906926)x3 copy number gain See cases [RCV000240377] Chr12:32896340..32906926 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_012062.5(DNM1L):c.1080-16C>T single nucleotide variant not specified [RCV000245849] Chr12:32730998 [GRCh38]
Chr12:32883932 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.*535T>G single nucleotide variant Lethal Encephalopathy [RCV000301358] Chr12:32743945 [GRCh38]
Chr12:32896879 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1866C>T (p.Ala622=) single nucleotide variant Lethal Encephalopathy [RCV000302055] Chr12:32740222 [GRCh38]
Chr12:32893156 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000286673]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000320609]|not provided [RCV000488251] Chr12:32755249 [GRCh38]
Chr12:32908183 [GRCh37]
Chr12:12p11.21
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000323328]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000270595] Chr12:32755641 [GRCh38]
Chr12:32908575 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*24A>G single nucleotide variant Mitochondrial myopathy and sideroblastic anemia [RCV000348205]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000290878] Chr12:32747180 [GRCh38]
Chr12:32900114 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000331600]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000274193] Chr12:32753948 [GRCh38]
Chr12:32906882 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1624T>C single nucleotide variant Lethal Encephalopathy [RCV000309297] Chr12:32745034 [GRCh38]
Chr12:32897968 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.870T>C (p.Val290=) single nucleotide variant Mitochondrial myopathy and sideroblastic anemia [RCV000365186]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000272970]|not provided [RCV000676969]|not specified [RCV000435120] Chr12:32753995 [GRCh38]
Chr12:32906929 [GRCh37]
Chr12:12p11.21
benign|likely benign|uncertain significance
NM_012062.5(DNM1L):c.*128A>G single nucleotide variant Lethal Encephalopathy [RCV000292472] Chr12:32743538 [GRCh38]
Chr12:32896472 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*1338C>T single nucleotide variant Lethal Encephalopathy [RCV000337535] Chr12:32744748 [GRCh38]
Chr12:32897682 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*1110C>T single nucleotide variant Lethal Encephalopathy [RCV000276723] Chr12:32744520 [GRCh38]
Chr12:32897454 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*21_*22delinsCT indel Lethal Encephalopathy [RCV000277306]|not provided [RCV000675861] Chr12:32743431..32743432 [GRCh38]
Chr12:32896365..32896366 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.*1526T>C single nucleotide variant Lethal Encephalopathy [RCV000315022] Chr12:32744936 [GRCh38]
Chr12:32897870 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*1401A>G single nucleotide variant Lethal Encephalopathy [RCV000278767] Chr12:32744811 [GRCh38]
Chr12:32897745 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000351075]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000279759]|not specified [RCV000442193] Chr12:32755398 [GRCh38]
Chr12:32908332 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000342313]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000393685] Chr12:32749970 [GRCh38]
Chr12:32902904 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) single nucleotide variant Mitochondrial myopathy and sideroblastic anemia [RCV000361764]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000264539] Chr12:32755695 [GRCh38]
Chr12:32908629 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) single nucleotide variant Mitochondrial myopathy and sideroblastic anemia [RCV000377688]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000280875]|not provided [RCV000676970] Chr12:32755303 [GRCh38]
Chr12:32908237 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*1755T>C single nucleotide variant Lethal Encephalopathy [RCV000365990] Chr12:32745165 [GRCh38]
Chr12:32898099 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*519T>G single nucleotide variant Lethal Encephalopathy [RCV000392605] Chr12:32743929 [GRCh38]
Chr12:32896863 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1193C>T single nucleotide variant Lethal Encephalopathy [RCV000271011] Chr12:32744603 [GRCh38]
Chr12:32897537 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1269T>A (p.Arg423=) single nucleotide variant not provided [RCV000876055] Chr12:32731424 [GRCh38]
Chr12:32884358 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_001040436.3(YARS2):c.1104-16dup duplication Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000341049]|Mitochondrial myopathy and sideroblastic anemia [RCV000283693] Chr12:32750119..32750120 [GRCh38]
Chr12:32903053..32903054 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000316387]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000282346] Chr12:32755845 [GRCh38]
Chr12:32908779 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1279G>A single nucleotide variant Lethal Encephalopathy [RCV000324791] Chr12:32744689 [GRCh38]
Chr12:32897623 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) single nucleotide variant Mitochondrial myopathy and sideroblastic anemia [RCV000378773]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000326452]|not specified [RCV000606596] Chr12:32754046 [GRCh38]
Chr12:32906980 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.1994+9T>G single nucleotide variant Lethal Encephalopathy [RCV000261605] Chr12:32740527 [GRCh38]
Chr12:32893461 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*2206dup duplication Lethal Encephalopathy [RCV000262136] Chr12:32745614..32745615 [GRCh38]
Chr12:32898548..32898549 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1872G>A single nucleotide variant Lethal Encephalopathy [RCV000307721] Chr12:32745282 [GRCh38]
Chr12:32898216 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1104T>C (p.Tyr368=) single nucleotide variant Lethal Encephalopathy [RCV000308934] Chr12:32731038 [GRCh38]
Chr12:32883972 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) single nucleotide variant Mitochondrial myopathy and sideroblastic anemia [RCV000353659]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000403447] Chr12:32753931 [GRCh38]
Chr12:32906865 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1120A>G single nucleotide variant Lethal Encephalopathy [RCV000331916] Chr12:32744530 [GRCh38]
Chr12:32897464 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*1538del deletion Lethal Encephalopathy [RCV000405929] Chr12:32744948 [GRCh38]
Chr12:32897882 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000371082]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000314050]|not provided [RCV000676968]|not specified [RCV000441038] Chr12:32753935 [GRCh38]
Chr12:32906869 [GRCh37]
Chr12:12p11.21
benign|likely benign|uncertain significance
NM_012062.5(DNM1L):c.*1341A>G single nucleotide variant Lethal Encephalopathy [RCV000408045] Chr12:32744751 [GRCh38]
Chr12:32897685 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*1899C>T single nucleotide variant Lethal Encephalopathy [RCV000360149] Chr12:32745309 [GRCh38]
Chr12:32898243 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.2157A>G (p.Ala719=) single nucleotide variant Lethal Encephalopathy [RCV000316875] Chr12:32743356 [GRCh38]
Chr12:32896290 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000338294]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000398304]|not specified [RCV000434264] Chr12:32755340 [GRCh38]
Chr12:32908274 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.*48T>C single nucleotide variant Lethal Encephalopathy [RCV000386779] Chr12:32743458 [GRCh38]
Chr12:32896392 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*1980A>C single nucleotide variant Lethal Encephalopathy [RCV000267976] Chr12:32745390 [GRCh38]
Chr12:32898324 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*627A>T single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000279712]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000351018] Chr12:32746577 [GRCh38]
Chr12:32899511 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1842A>G single nucleotide variant Lethal Encephalopathy [RCV000269074] Chr12:32745252 [GRCh38]
Chr12:32898186 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.616dup (p.Leu206fs) duplication not provided [RCV000490030] Chr12:32755258..32755259 [GRCh38]
Chr12:32908192..32908193 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_012062.5(DNM1L):c.*156A>C single nucleotide variant Lethal Encephalopathy [RCV000329191] Chr12:32743566 [GRCh38]
Chr12:32896500 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1239G>A single nucleotide variant Lethal Encephalopathy [RCV000380776] Chr12:32744649 [GRCh38]
Chr12:32897583 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*209G>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000392192]|Lethal Encephalopathy [RCV000322564]|Mitochondrial myopathy and sideroblastic anemia [RCV000305932]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114809] Chr12:32746995 [GRCh38]
Chr12:32899929 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*1415T>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000315133]|Lethal Encephalopathy [RCV000336275]|Mitochondrial myopathy and sideroblastic anemia [RCV000362773] Chr12:32744825 [GRCh38]
Chr12:32897759 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_001040436.3(YARS2):c.*643G>A single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000371457]|Lethal Encephalopathy [RCV000406313]|Mitochondrial myopathy and sideroblastic anemia [RCV000319068]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113407] Chr12:32746561 [GRCh38]
Chr12:32899495 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*1093T>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000371686]|Mitochondrial myopathy and sideroblastic anemia [RCV000324028] Chr12:32744503 [GRCh38]
Chr12:32897437 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.*393A>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000364831]|Lethal Encephalopathy [RCV000407287]|Mitochondrial myopathy and sideroblastic anemia [RCV000326445] Chr12:32743803 [GRCh38]
Chr12:32896737 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1597-3_1597-2dup duplication Lethal Encephalopathy [RCV000305588] Chr12:32737861..32737862 [GRCh38]
Chr12:32890795..32890796 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*1532A>G single nucleotide variant Lethal Encephalopathy [RCV000367373] Chr12:32744942 [GRCh38]
Chr12:32897876 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*360A>G single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000392181]|Lethal Encephalopathy [RCV000366716]|Mitochondrial myopathy and sideroblastic anemia [RCV000349712]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113413] Chr12:32746844 [GRCh38]
Chr12:32899778 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000406428]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV000368302] Chr12:32755548 [GRCh38]
Chr12:32908482 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1316T>C single nucleotide variant Lethal Encephalopathy [RCV000284807] Chr12:32744726 [GRCh38]
Chr12:32897660 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*2014C>T single nucleotide variant Lethal Encephalopathy [RCV000320714] Chr12:32745424 [GRCh38]
Chr12:32898358 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*142T>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000317776]|Lethal Encephalopathy [RCV000316547]|Mitochondrial myopathy and sideroblastic anemia [RCV000260179]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114812] Chr12:32747062 [GRCh38]
Chr12:32899996 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.*402A>G single nucleotide variant Lethal Encephalopathy [RCV000285716] Chr12:32743812 [GRCh38]
Chr12:32896746 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1471_*1475dup duplication Lethal Encephalopathy [RCV000408029] Chr12:32744880..32744881 [GRCh38]
Chr12:32897814..32897815 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*230A>G single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000345484]|Lethal Encephalopathy [RCV000264971]|Mitochondrial myopathy and sideroblastic anemia [RCV000307018]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114808] Chr12:32746974 [GRCh38]
Chr12:32899908 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.*1072G>C single nucleotide variant Lethal Encephalopathy [RCV000297763] Chr12:32744482 [GRCh38]
Chr12:32897416 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*191T>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000265965]|Lethal Encephalopathy [RCV000360920]|Mitochondrial myopathy and sideroblastic anemia [RCV000358095]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114810] Chr12:32747013 [GRCh38]
Chr12:32899947 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_001040436.3(YARS2):c.*162A>G single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000299975]|Lethal Encephalopathy [RCV000268326]|Mitochondrial myopathy and sideroblastic anemia [RCV000357124]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114811] Chr12:32747042 [GRCh38]
Chr12:32899976 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*271C>G single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000370573]|Mitochondrial myopathy and sideroblastic anemia [RCV000268977] Chr12:32743681 [GRCh38]
Chr12:32896615 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*22A>T single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000313747]|Mitochondrial myopathy and sideroblastic anemia [RCV000275050] Chr12:32743432 [GRCh38]
Chr12:32896366 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*600C>T single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000272290]|Lethal Encephalopathy [RCV000356136]|Mitochondrial myopathy and sideroblastic anemia [RCV000320339] Chr12:32744010 [GRCh38]
Chr12:32896944 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_001040436.3(YARS2):c.*126_*127del deletion Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000388515]|Lethal Encephalopathy [RCV000373541]|Mitochondrial myopathy and sideroblastic anemia [RCV000277846] Chr12:32747077..32747078 [GRCh38]
Chr12:32900011..32900012 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.*1156G>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000336831]|Mitochondrial myopathy and sideroblastic anemia [RCV000279496] Chr12:32744566 [GRCh38]
Chr12:32897500 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*420C>G single nucleotide variant Lethal Encephalopathy [RCV000340740] Chr12:32743830 [GRCh38]
Chr12:32896764 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*62G>A single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000387461]|Lethal Encephalopathy [RCV000281421]|Mitochondrial myopathy and sideroblastic anemia [RCV000330686]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114813] Chr12:32747142 [GRCh38]
Chr12:32900076 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_012062.5(DNM1L):c.*744A>T single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000285137]|Mitochondrial myopathy and sideroblastic anemia [RCV000377247] Chr12:32744154 [GRCh38]
Chr12:32897088 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*1242G>A single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000350379]|Lethal Encephalopathy [RCV000286166]|Mitochondrial myopathy and sideroblastic anemia [RCV000391184] Chr12:32744652 [GRCh38]
Chr12:32897586 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*275_*278dup duplication Lethal Encephalopathy [RCV000289448] Chr12:32743684..32743685 [GRCh38]
Chr12:32896618..32896619 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.*1315dup duplication Lethal Encephalopathy [RCV000376995] Chr12:32744713..32744714 [GRCh38]
Chr12:32897647..32897648 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000289715]|Lethal Encephalopathy [RCV000329729]|Mitochondrial myopathy and sideroblastic anemia [RCV000380699]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001114814]|not provided [RCV000968251] Chr12:32747282 [GRCh38]
Chr12:32900216 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*2102_*2103dup duplication Lethal Encephalopathy [RCV000377771] Chr12:32745511..32745512 [GRCh38]
Chr12:32898445..32898446 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.*406C>T single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000292534]|Lethal Encephalopathy [RCV000309191]|Mitochondrial myopathy and sideroblastic anemia [RCV000389223]|Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113411] Chr12:32746798 [GRCh38]
Chr12:32899732 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*1213G>T single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000391164]|Mitochondrial myopathy and sideroblastic anemia [RCV000293050] Chr12:32744623 [GRCh38]
Chr12:32897557 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.*335_*338dup duplication Lethal Encephalopathy [RCV000344382] Chr12:32743743..32743744 [GRCh38]
Chr12:32896677..32896678 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.*21G>C single nucleotide variant Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis [RCV000300893]|Mitochondrial myopathy and sideroblastic anemia [RCV000367296] Chr12:32743431 [GRCh38]
Chr12:32896365 [GRCh37]
Chr12:12p11.21
benign|likely benign
NM_012062.5(DNM1L):c.1588C>T (p.Arg530Ter) single nucleotide variant not provided [RCV000578881] Chr12:32737153 [GRCh38]
Chr12:32890087 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_012062.5(DNM1L):c.1647C>T (p.Pro549=) single nucleotide variant not specified [RCV000604678] Chr12:32737915 [GRCh38]
Chr12:32890849 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter) single nucleotide variant not provided [RCV000730151] Chr12:32755241 [GRCh38]
Chr12:32908175 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000414839] Chr12:32731069 [GRCh38]
Chr12:32884003 [GRCh37]
Chr12:12p11.21
likely pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_012062.5(DNM1L):c.1302G>T (p.Leu434=) single nucleotide variant not specified [RCV000417834] Chr12:32731457 [GRCh38]
Chr12:32884391 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.930G>C (p.Pro310=) single nucleotide variant not provided [RCV000894700]|not specified [RCV000424280] Chr12:32753935 [GRCh38]
Chr12:32906869 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1535T>C (p.Ile512Thr) single nucleotide variant not provided [RCV000431728] Chr12:32733803 [GRCh38]
Chr12:32886737 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.280G>A (p.Ala94Thr) single nucleotide variant not provided [RCV000443901] Chr12:32755595 [GRCh38]
Chr12:32908529 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.181C>G (p.Leu61Val) single nucleotide variant not provided [RCV000433553] Chr12:32755694 [GRCh38]
Chr12:32908628 [GRCh37]
Chr12:12p11.21
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_012062.5(DNM1L):c.2082C>T (p.Ser694=) single nucleotide variant not provided [RCV000918991]|not specified [RCV000423494] Chr12:32742676 [GRCh38]
Chr12:32895610 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1722delinsAGGTTTTTCAGGTGCATCA (p.Gly576_Val577insPheSerGlyAlaSerGly) indel not specified [RCV000480466] Chr12:32740078 [GRCh38]
Chr12:32893012 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr) single nucleotide variant not provided [RCV000484397] Chr12:32731447 [GRCh38]
Chr12:32884381 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_012062.5(DNM1L):c.*3_*7delinsGT indel not specified [RCV000482065] Chr12:32743413..32743417 [GRCh38]
Chr12:32896347..32896351 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.842del (p.Lys281fs) deletion not provided [RCV000479623] Chr12:32754023 [GRCh38]
Chr12:32906957 [GRCh37]
Chr12:12p11.21
pathogenic
GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3 copy number gain See cases [RCV000512134] Chr12:29579030..34835837 [GRCh37]
Chr12:12p11.22-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_012062.5(DNM1L):c.1750C>G (p.Pro584Ala) single nucleotide variant not provided [RCV000498231] Chr12:32740106 [GRCh38]
Chr12:32893040 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.1106G>A (p.Cys369Tyr) single nucleotide variant Mitochondrial diseases [RCV000508696] Chr12:32750105 [GRCh38]
Chr12:32903039 [GRCh37]
Chr12:12p11.21
pathogenic
NM_001040436.3(YARS2):c.1147_1164dup (p.Val383_Glu388dup) duplication Mitochondrial diseases [RCV000508833] Chr12:32750046..32750047 [GRCh38]
Chr12:32902980..32902981 [GRCh37]
Chr12:12p11.21
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3 copy number gain See cases [RCV000512027] Chr12:29123400..40956186 [GRCh37]
Chr12:12p11.22-q12
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
NM_012062.5(DNM1L):c.1708-4del deletion not specified [RCV000601545] Chr12:32740055 [GRCh38]
Chr12:32892989 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1083C>T (p.Cys361=) single nucleotide variant not specified [RCV000605850] Chr12:32731017 [GRCh38]
Chr12:32883951 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1596+9_1596+10del deletion not specified [RCV000613065] Chr12:32737170..32737171 [GRCh38]
Chr12:32890104..32890105 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1597-19del deletion not specified [RCV000608496] Chr12:32737841 [GRCh38]
Chr12:32890775 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1708-8T>G single nucleotide variant not specified [RCV000608501] Chr12:32740056 [GRCh38]
Chr12:32892990 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1356+11G>T single nucleotide variant not specified [RCV000614629] Chr12:32731522 [GRCh38]
Chr12:32884456 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.960G>A (p.Leu320=) single nucleotide variant not provided [RCV000927785]|not specified [RCV000614667] Chr12:32750862 [GRCh38]
Chr12:32903796 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.948-20C>T single nucleotide variant not specified [RCV000603365] Chr12:32750894 [GRCh38]
Chr12:32903828 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1356+5C>T single nucleotide variant not specified [RCV000600540] Chr12:32731516 [GRCh38]
Chr12:32884450 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.201dup (p.Gly68fs) duplication not provided [RCV000676972] Chr12:32755673..32755674 [GRCh38]
Chr12:32908607..32908608 [GRCh37]
Chr12:12p11.21
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000757997]|Optic atrophy 5 [RCV000850546] Chr12:32742666 [GRCh38]
Chr12:32895600 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001109173]|not provided [RCV000899149] Chr12:32754055 [GRCh38]
Chr12:32906989 [GRCh37]
Chr12:12p11.21
likely benign|uncertain significance
NM_001040436.3(YARS2):c.522G>C (p.Ser174=) single nucleotide variant not provided [RCV000914994] Chr12:32755353 [GRCh38]
Chr12:32908287 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.225C>T (p.Thr75=) single nucleotide variant not provided [RCV000898420] Chr12:32755650 [GRCh38]
Chr12:32908584 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1649C>T (p.Ala550Val) single nucleotide variant not provided [RCV001066764] Chr12:32737917 [GRCh38]
Chr12:32890851 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.417C>T (p.Ala139=) single nucleotide variant not provided [RCV000918430] Chr12:32755458 [GRCh38]
Chr12:32908392 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1597-121T>C single nucleotide variant not provided [RCV000835766] Chr12:32737744 [GRCh38]
Chr12:32890678 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.2155-125_2155-124del deletion not provided [RCV000832905] Chr12:32743229..32743230 [GRCh38]
Chr12:32896163..32896164 [GRCh37]
Chr12:12p11.21
benign
NC_000012.12:g.32756027C>G single nucleotide variant not provided [RCV000835874] Chr12:32756027 [GRCh38]
Chr12:32908961 [GRCh37]
Chr12:12p11.21
benign
NM_001040436.3(YARS2):c.1104-107A>C single nucleotide variant not provided [RCV000835875] Chr12:32750214 [GRCh38]
Chr12:32903148 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.1708-124A>C single nucleotide variant not provided [RCV000836183] Chr12:32739940 [GRCh38]
Chr12:32892874 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1995-133G>A single nucleotide variant not provided [RCV000834894] Chr12:32742456 [GRCh38]
Chr12:32895390 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1994+263G>T single nucleotide variant not provided [RCV000840352] Chr12:32740781 [GRCh38]
Chr12:32893715 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.2154+273G>A single nucleotide variant not provided [RCV000840377] Chr12:32743021 [GRCh38]
Chr12:32895955 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000988810] Chr12:32740439 [GRCh38]
Chr12:32893373 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_001040436.3(YARS2):c.780-153T>C single nucleotide variant not provided [RCV000840804] Chr12:32754238 [GRCh38]
Chr12:32907172 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.948-261A>G single nucleotide variant not provided [RCV000840805] Chr12:32751135 [GRCh38]
Chr12:32904069 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.1274+187_1274+189dup duplication not provided [RCV000840807] Chr12:32749747..32749748 [GRCh38]
Chr12:32902681..32902682 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.1597-114C>T single nucleotide variant not provided [RCV000835516] Chr12:32737751 [GRCh38]
Chr12:32890685 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.1596+66C>T single nucleotide variant not provided [RCV000835705] Chr12:32737227 [GRCh38]
Chr12:32890161 [GRCh37]
Chr12:12p11.21
benign
NM_001040436.3(YARS2):c.1104-197G>A single nucleotide variant not provided [RCV000832549] Chr12:32750304 [GRCh38]
Chr12:32903238 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.1275-323A>G single nucleotide variant not provided [RCV000840652] Chr12:32747686 [GRCh38]
Chr12:32900620 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.1994+176C>T single nucleotide variant not provided [RCV000840767] Chr12:32740694 [GRCh38]
Chr12:32893628 [GRCh37]
Chr12:12p11.21
likely benign
GRCh37/hg19 12p11.21(chr12:31453473-33040145)x3 copy number gain not provided [RCV000849278] Chr12:31453473..33040145 [GRCh37]
Chr12:12p11.21
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_012062.5(DNM1L):c.1674+36T>A single nucleotide variant not provided [RCV000830843] Chr12:32737978 [GRCh38]
Chr12:32890912 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.1255C>T (p.Arg419Trp) single nucleotide variant not specified [RCV000785123] Chr12:32731410 [GRCh38]
Chr12:32884344 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000988806] Chr12:32731042 [GRCh38]
Chr12:32883976 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_001040436.3(YARS2):c.779+51C>G single nucleotide variant not provided [RCV000833770] Chr12:32755045 [GRCh38]
Chr12:32907979 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1995-319A>T single nucleotide variant not provided [RCV000840769] Chr12:32742270 [GRCh38]
Chr12:32895204 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.2154+186C>T single nucleotide variant not provided [RCV000840770] Chr12:32742934 [GRCh38]
Chr12:32895868 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.2155-216G>A single nucleotide variant not provided [RCV000840771] Chr12:32743138 [GRCh38]
Chr12:32896072 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.948-213T>C single nucleotide variant not provided [RCV000840806] Chr12:32751087 [GRCh38]
Chr12:32904021 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.1274+159G>A single nucleotide variant not provided [RCV000840838] Chr12:32749778 [GRCh38]
Chr12:32902712 [GRCh37]
Chr12:12p11.21
benign
NM_012062.5(DNM1L):c.1596+248G>A single nucleotide variant not provided [RCV000838181] Chr12:32737409 [GRCh38]
Chr12:32890343 [GRCh37]
Chr12:12p11.21
benign
NM_001040436.3(YARS2):c.779+150C>T single nucleotide variant not provided [RCV000834953] Chr12:32754946 [GRCh38]
Chr12:32907880 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1080-59A>G single nucleotide variant not provided [RCV000838504] Chr12:32730955 [GRCh38]
Chr12:32883889 [GRCh37]
Chr12:12p11.21
likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_012062.5(DNM1L):c.1091C>A (p.Ala364Asp) single nucleotide variant not provided [RCV000994886] Chr12:32731025 [GRCh38]
Chr12:32883959 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000988807] Chr12:32737136 [GRCh38]
Chr12:32890070 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1374T>C (p.Pro458=) single nucleotide variant not provided [RCV000962454] Chr12:32731871 [GRCh38]
Chr12:32884805 [GRCh37]
Chr12:12p11.21
likely benign
NM_001040436.3(YARS2):c.780-4G>A single nucleotide variant not provided [RCV000930808] Chr12:32754089 [GRCh38]
Chr12:32907023 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV000988808] Chr12:32740178 [GRCh38]
Chr12:32893112 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*595G>A single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113408] Chr12:32746609 [GRCh38]
Chr12:32899543 [GRCh37]
Chr12:12p11.21
uncertain significance
NC_000012.12:g.32755905T>C single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113500] Chr12:32755905 [GRCh38]
Chr12:32908839 [GRCh37]
Chr12:12p11.21
uncertain significance
NC_000012.12:g.32755946G>C single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113501] Chr12:32755946 [GRCh38]
Chr12:32908880 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*377G>A single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113412] Chr12:32746827 [GRCh38]
Chr12:32899761 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*478G>A single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113409] Chr12:32746726 [GRCh38]
Chr12:32899660 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.*469C>T single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001113410] Chr12:32746735 [GRCh38]
Chr12:32899669 [GRCh37]
Chr12:12p11.21
likely benign
NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV001253719] Chr12:32731021 [GRCh38]
Chr12:32883955 [GRCh37]
Chr12:12p11.21
likely pathogenic
NM_012062.5(DNM1L):c.1228G>A (p.Glu410Lys) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 1 [RCV001271120]|Inborn genetic diseases [RCV001265935] Chr12:32731383 [GRCh38]
Chr12:32884317 [GRCh37]
Chr12:12p11.21
pathogenic|likely pathogenic
GRCh37/hg19 12p11.21(chr12:32874959-33060511)x3 copy number gain not provided [RCV001258513] Chr12:32874959..33060511 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.517_521dup (p.Ala175fs) duplication Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001333674] Chr12:32755353..32755354 [GRCh38]
Chr12:32908287..32908288 [GRCh37]
Chr12:12p11.21
pathogenic
NM_001040436.3(YARS2):c.653A>G (p.Glu218Gly) single nucleotide variant Inborn genetic diseases [RCV001266762] Chr12:32755222 [GRCh38]
Chr12:32908156 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) single nucleotide variant Myopathy, lactic acidosis, and sideroblastic anemia 2 [RCV001330170] Chr12:32747211 [GRCh38]
Chr12:32900145 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1596+9dup duplication not provided [RCV000827659] Chr12:32737163..32737164 [GRCh38]
Chr12:32890097..32890098 [GRCh37]
Chr12:12p11.21
likely benign
NC_000012.11:g.(?_32772622)_(33049675_?)dup duplication Arrhythmogenic right ventricular dysplasia 9 [RCV001374111] Chr12:32772622..33049675 [GRCh37]
Chr12:12p11.21
uncertain significance
NM_012062.5(DNM1L):c.1099T>C (p.Cys367Arg) single nucleotide variant not provided [RCV001377566] Chr12:32731033 [GRCh38]
Chr12:32883967 [GRCh37]
Chr12:12p11.21
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24249 AgrOrtholog
COSMIC YARS2 COSMIC
Ensembl Genes ENSG00000139131 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000320658 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000447710 UniProtKB/TrEMBL
Ensembl Transcript ENST00000324868 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000548490 UniProtKB/TrEMBL
Gene3D-CATH 3.10.290.10 UniProtKB/Swiss-Prot
  3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000139131 GTEx
HGNC ID HGNC:24249 ENTREZGENE
Human Proteome Map YARS2 Human Proteome Map
InterPro aa-tRNA-synth_I_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  aa-tRNA-synth_Ic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S4_RNA-bd_sf UniProtKB/Swiss-Prot
  Tyr-tRNA-ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr-tRNA-ligase_bac-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51067 UniProtKB/Swiss-Prot
NCBI Gene 51067 ENTREZGENE
OMIM 610957 OMIM
  613561 OMIM
PANTHER PTHR11766 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam tRNA-synt_1b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670559 PharmGKB
PRINTS TRNASYNTHTYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AA_TRNA_LIGASE_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs tyrS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0YHS6_HUMAN UniProtKB/TrEMBL
  Q9Y2Z4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DUW8 UniProtKB/Swiss-Prot
  Q9H817 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 YARS2  tyrosyl-tRNA synthetase 2    tyrosyl-tRNA synthetase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED