CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial) - Rat Genome Database

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Gene: CARS2 (cysteinyl-tRNA synthetase 2, mitochondrial) Homo sapiens
Analyze
Symbol: CARS2
Name: cysteinyl-tRNA synthetase 2, mitochondrial
RGD ID: 1606504
HGNC Page HGNC:25695
Description: Predicted to enable ATP binding activity and cysteine-tRNA ligase activity. Predicted to be involved in cysteinyl-tRNA aminoacylation. Predicted to be located in mitochondrial matrix. Predicted to be active in cytoplasm. Implicated in combined oxidative phosphorylation deficiency 27.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COXPD27; cysRS; cysteine tRNA ligase 2, mitochondrial (putative); cysteine--tRNA ligase; cysteinyl-tRNA synthetase 2, mitochondrial (putative); DKFZp667A2315; DKFZp686G08243; FLJ12118; FLJ42514; probable cysteine--tRNA ligase, mitochondrial; probable cysteinyl-tRNA synthetase, mitochondrial
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
GRCh3813110,641,410 - 110,713,522 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl13110,641,412 - 110,713,603 (-)EnsemblGRCh38hg38GRCh38
GRCh3713111,293,757 - 111,358,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613110,091,760 - 110,156,464 (-)NCBINCBI36Build 36hg18NCBI36
Celera1392,139,805 - 92,204,660 (-)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1391,893,072 - 91,956,916 (-)NCBIHuRef
CHM1_113111,262,210 - 111,326,592 (-)NCBICHM1_1
T2T-CHM13v2.013109,871,850 - 109,936,733 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15057823   PMID:15489334   PMID:15779907   PMID:16344560   PMID:20379614   PMID:20877624   PMID:21873635   PMID:24104479   PMID:24797263   PMID:25361775  
PMID:25787132   PMID:26058080   PMID:26186194   PMID:26496610   PMID:28514442   PMID:28515276   PMID:29395067   PMID:29449217   PMID:29568061   PMID:30021884   PMID:30033366   PMID:31056398  
PMID:31091453   PMID:31536960   PMID:31617661   PMID:31871319   PMID:32628020   PMID:32877691   PMID:32994395   PMID:33545068   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35032548  
PMID:35509820  


Genomics

Comparative Map Data
CARS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813110,641,410 - 110,713,522 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl13110,641,412 - 110,713,603 (-)EnsemblGRCh38hg38GRCh38
GRCh3713111,293,757 - 111,358,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3613110,091,760 - 110,156,464 (-)NCBINCBI36Build 36hg18NCBI36
Celera1392,139,805 - 92,204,660 (-)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1391,893,072 - 91,956,916 (-)NCBIHuRef
CHM1_113111,262,210 - 111,326,592 (-)NCBICHM1_1
T2T-CHM13v2.013109,871,850 - 109,936,733 (-)NCBIT2T-CHM13v2.0
Cars2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39811,564,017 - 11,600,781 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl811,563,977 - 11,600,783 (-)EnsemblGRCm39 Ensembl
GRCm38811,514,017 - 11,550,781 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl811,513,977 - 11,550,783 (-)EnsemblGRCm38mm10GRCm38
MGSCv37811,514,017 - 11,550,771 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36811,513,947 - 11,555,988 (-)NCBIMGSCv36mm8
Celera811,689,324 - 11,725,869 (-)NCBICelera
Cytogenetic Map8A1.1NCBI
Cars2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21677,945,468 - 77,987,163 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1677,950,008 - 77,987,772 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01683,288,613 - 83,325,706 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1683,288,664 - 83,325,699 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01682,756,339 - 82,792,881 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41682,801,948 - 82,839,707 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11682,787,426 - 82,825,553 (+)NCBI
Celera1675,748,996 - 75,786,082 (+)NCBICelera
Cytogenetic Map16q12.5NCBI
Cars2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554041,996,400 - 2,027,563 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554042,008,980 - 2,027,672 (+)NCBIChiLan1.0ChiLan1.0
CARS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.113110,892,823 - 110,957,000 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13110,892,948 - 110,957,000 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01391,776,774 - 91,843,262 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CARS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12258,891,826 - 58,946,112 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2258,902,293 - 58,947,558 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2258,588,895 - 58,657,725 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02259,501,160 - 59,570,006 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2259,515,686 - 59,572,338 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12259,003,256 - 59,072,169 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02258,995,216 - 59,064,019 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02259,031,097 - 59,100,142 (-)NCBIUU_Cfam_GSD_1.0
Cars2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945193,763,703 - 193,811,975 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049364722,144,407 - 2,180,431 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CARS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1177,229,971 - 77,265,272 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11177,231,865 - 77,269,936 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21184,746,513 - 84,779,790 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CARS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1388,871,338 - 88,929,454 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl388,871,460 - 88,929,436 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604645,607,271 - 45,700,394 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cars2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247932,130,608 - 2,148,519 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247932,126,304 - 2,148,619 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
RH123104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,300,562 - 111,300,884UniSTSGRCh37
Build 3613110,098,563 - 110,098,885RGDNCBI36
Celera1392,146,693 - 92,147,015RGD
Cytogenetic Map13q34UniSTS
HuRef1391,899,878 - 91,900,200UniSTS
RH119165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,315,715 - 111,316,013UniSTSGRCh37
Build 3613110,113,716 - 110,114,014RGDNCBI36
Celera1392,161,873 - 92,162,171RGD
Cytogenetic Map13q34UniSTS
HuRef1391,915,032 - 91,915,330UniSTS
TNG Radiation Hybrid Map1341667.0UniSTS
D13S675E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,293,797 - 111,293,948UniSTSGRCh37
Build 3613110,091,798 - 110,091,949RGDNCBI36
Celera1392,139,845 - 92,139,996RGD
Cytogenetic Map13q34UniSTS
HuRef1391,893,112 - 91,893,263UniSTS
D13S1213E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,293,770 - 111,293,869UniSTSGRCh37
Build 3613110,091,771 - 110,091,870RGDNCBI36
Celera1392,139,818 - 92,139,917RGD
Cytogenetic Map13q34UniSTS
HuRef1391,893,085 - 91,893,184UniSTS
RH45363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713111,320,172 - 111,320,363UniSTSGRCh37
Build 3613110,118,173 - 110,118,364RGDNCBI36
Celera1392,166,330 - 92,166,521RGD
Cytogenetic Map13q34UniSTS
HuRef1391,919,489 - 91,919,680UniSTS
GeneMap99-GB4 RH Map13313.41UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6741
Count of miRNA genes:1218
Interacting mature miRNAs:1557
Transcripts:ENST00000257347, ENST00000375781, ENST00000465145, ENST00000471986, ENST00000480437, ENST00000481787, ENST00000485188, ENST00000487253, ENST00000535398, ENST00000535516, ENST00000535615, ENST00000537386, ENST00000537394, ENST00000537404, ENST00000537412, ENST00000537743, ENST00000537802, ENST00000539269, ENST00000539405, ENST00000540006, ENST00000540215, ENST00000540629, ENST00000540785, ENST00000541239, ENST00000541362, ENST00000541443, ENST00000542126, ENST00000542709, ENST00000542774, ENST00000543487, ENST00000544488, ENST00000545506
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2365 2498 1452 368 1786 216 4188 1909 2231 256 1409 1493 165 1185 2693 2
Low 69 486 273 254 164 248 168 286 1486 162 41 116 6 19 95 2
Below cutoff 4 3 1 1 1 2 16 1 7 4 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001749668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007063696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB062436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE464542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB047094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA966145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY150557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY160154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000257347   ⟹   ENSP00000257347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,417 - 110,706,116 (-)Ensembl
RefSeq Acc Id: ENST00000375781
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,417 - 110,663,775 (-)Ensembl
RefSeq Acc Id: ENST00000465145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,667,436 - 110,706,469 (-)Ensembl
RefSeq Acc Id: ENST00000471986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,642,387 - 110,646,073 (-)Ensembl
RefSeq Acc Id: ENST00000480437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,642,447 - 110,646,278 (-)Ensembl
RefSeq Acc Id: ENST00000481787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,443 - 110,683,139 (-)Ensembl
RefSeq Acc Id: ENST00000485188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,705,521 - 110,713,535 (-)Ensembl
RefSeq Acc Id: ENST00000487253   ⟹   ENSP00000438267
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,587 - 110,663,518 (-)Ensembl
RefSeq Acc Id: ENST00000535398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,643,956 - 110,713,603 (-)Ensembl
RefSeq Acc Id: ENST00000535516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,419 - 110,663,530 (-)Ensembl
RefSeq Acc Id: ENST00000535615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,642,511 - 110,665,730 (-)Ensembl
RefSeq Acc Id: ENST00000537386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,646,679 - 110,663,628 (-)Ensembl
RefSeq Acc Id: ENST00000537394   ⟹   ENSP00000437962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,687,732 - 110,706,133 (-)Ensembl
RefSeq Acc Id: ENST00000537404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,646,861 - 110,651,207 (-)Ensembl
RefSeq Acc Id: ENST00000537412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,701,502 - 110,713,601 (-)Ensembl
RefSeq Acc Id: ENST00000537743   ⟹   ENSP00000443027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,662,838 - 110,677,024 (-)Ensembl
RefSeq Acc Id: ENST00000537802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,419 - 110,665,750 (-)Ensembl
RefSeq Acc Id: ENST00000539269   ⟹   ENSP00000440420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,676,974 - 110,706,053 (-)Ensembl
RefSeq Acc Id: ENST00000539405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,650,247 - 110,667,458 (-)Ensembl
RefSeq Acc Id: ENST00000540006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,412 - 110,663,861 (-)Ensembl
RefSeq Acc Id: ENST00000540215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,644,387 - 110,646,376 (-)Ensembl
RefSeq Acc Id: ENST00000540629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,687,792 - 110,712,486 (-)Ensembl
RefSeq Acc Id: ENST00000540785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,701,351 - 110,705,616 (-)Ensembl
RefSeq Acc Id: ENST00000541239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,412 - 110,645,633 (-)Ensembl
RefSeq Acc Id: ENST00000541362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,646,467 - 110,665,737 (-)Ensembl
RefSeq Acc Id: ENST00000541443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,677,096 - 110,706,505 (-)Ensembl
RefSeq Acc Id: ENST00000542126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,687,721 - 110,713,522 (-)Ensembl
RefSeq Acc Id: ENST00000542709   ⟹   ENSP00000444655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,687,722 - 110,705,797 (-)Ensembl
RefSeq Acc Id: ENST00000542774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,641,584 - 110,644,681 (-)Ensembl
RefSeq Acc Id: ENST00000543487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,645,930 - 110,678,093 (-)Ensembl
RefSeq Acc Id: ENST00000544488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,676,999 - 110,713,522 (-)Ensembl
RefSeq Acc Id: ENST00000545506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,646,851 - 110,665,791 (-)Ensembl
RefSeq Acc Id: ENST00000620794   ⟹   ENSP00000480523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl13110,643,753 - 110,647,115 (-)Ensembl
RefSeq Acc Id: NM_001352252   ⟹   NP_001339181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,641,417 - 110,706,515 (-)NCBI
T2T-CHM13v2.013109,871,857 - 109,936,733 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001352253   ⟹   NP_001339182
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,663,452 - 110,706,116 (-)NCBI
T2T-CHM13v2.013109,893,865 - 109,936,334 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024537   ⟹   NP_078813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,641,417 - 110,706,116 (-)NCBI
GRCh3713111,293,757 - 111,358,480 (-)RGD
Build 3613110,091,760 - 110,156,464 (-)NCBI Archive
Celera1392,139,805 - 92,204,660 (-)RGD
HuRef1391,893,072 - 91,956,916 (-)ENTREZGENE
CHM1_113111,262,210 - 111,326,639 (-)NCBI
T2T-CHM13v2.013109,871,857 - 109,936,334 (-)NCBI
Sequence:
RefSeq Acc Id: NR_147941
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,641,410 - 110,706,515 (-)NCBI
T2T-CHM13v2.013109,871,850 - 109,936,733 (-)NCBI
Sequence:
RefSeq Acc Id: NR_147942
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,641,417 - 110,706,116 (-)NCBI
T2T-CHM13v2.013109,871,857 - 109,936,334 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006719953   ⟹   XP_006720016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,641,417 - 110,713,522 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521118   ⟹   XP_011519420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,663,452 - 110,706,116 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020742   ⟹   XP_016876231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,646,570 - 110,706,116 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430605   ⟹   XP_047286561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,646,097 - 110,706,116 (-)NCBI
RefSeq Acc Id: XM_047430606   ⟹   XP_047286562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,641,417 - 110,701,526 (-)NCBI
RefSeq Acc Id: XM_047430607   ⟹   XP_047286563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,644,387 - 110,706,116 (-)NCBI
RefSeq Acc Id: XM_047430608   ⟹   XP_047286564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,645,984 - 110,706,116 (-)NCBI
RefSeq Acc Id: XM_047430609   ⟹   XP_047286565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,641,417 - 110,701,523 (-)NCBI
RefSeq Acc Id: XR_001749667
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,643,333 - 110,706,116 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007063696
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813110,663,452 - 110,706,116 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_078813   ⟸   NM_024537
- Peptide Label: isoform 1
- UniProtKB: Q96IV4 (UniProtKB/Swiss-Prot),   Q9HA77 (UniProtKB/Swiss-Prot),   B7Z7E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006720016   ⟸   XM_006719953
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011519420   ⟸   XM_011521118
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016876231   ⟸   XM_017020742
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001339181   ⟸   NM_001352252
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001339182   ⟸   NM_001352253
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000480523   ⟸   ENST00000620794
RefSeq Acc Id: ENSP00000444655   ⟸   ENST00000542709
RefSeq Acc Id: ENSP00000257347   ⟸   ENST00000257347
RefSeq Acc Id: ENSP00000437962   ⟸   ENST00000537394
RefSeq Acc Id: ENSP00000443027   ⟸   ENST00000537743
RefSeq Acc Id: ENSP00000440420   ⟸   ENST00000539269
RefSeq Acc Id: ENSP00000438267   ⟸   ENST00000487253
RefSeq Acc Id: XP_047286562   ⟸   XM_047430606
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047286565   ⟸   XM_047430609
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047286563   ⟸   XM_047430607
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047286564   ⟸   XM_047430608
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047286561   ⟸   XM_047430605
- Peptide Label: isoform X1
Protein Domains
tRNA-synt_1e

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HA77-F1-model_v2 AlphaFold Q9HA77 1-564 view protein structure

Promoters
RGD ID:6790809
Promoter ID:HG_KWN:18555
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000375781
Position:
Human AssemblyChrPosition (strand)Source
Build 3613110,092,701 - 110,094,057 (-)MPROMDB
RGD ID:7226833
Promoter ID:EPDNEW_H19162
Type:initiation region
Name:CARS2_1
Description:cysteinyl-tRNA synthetase 2, mitochondrial
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
GRCh3813110,706,116 - 110,706,176EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024537.4(CARS2):c.85C>T (p.Pro29Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000548859] Chr13:110706009 [GRCh38]
Chr13:111358356 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.870C>T (p.Cys290=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000527256] Chr13:110667389 [GRCh38]
Chr13:111319736 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1578C>T (p.Cys526=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000525143] Chr13:110642360 [GRCh38]
Chr13:111294707 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.150G>T (p.Thr50=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000551413] Chr13:110705944 [GRCh38]
Chr13:111358291 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1431C>T (p.Asp477=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000526751] Chr13:110642507 [GRCh38]
Chr13:111294854 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
NM_024537.4(CARS2):c.880C>T (p.His294Tyr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000542146] Chr13:110667379 [GRCh38]
Chr13:111319726 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1128C>T (p.Asp376=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000544173]|not provided [RCV001311351] Chr13:110647166 [GRCh38]
Chr13:111299513 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.101C>G (p.Ala34Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000546575] Chr13:110705993 [GRCh38]
Chr13:111358340 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.42G>T (p.Leu14=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000547094] Chr13:110706052 [GRCh38]
Chr13:111358399 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.878_879del (p.Phe293fs) deletion not provided [RCV000519584] Chr13:110667380..110667381 [GRCh38]
Chr13:111319727..111319728 [GRCh37]
Chr13:13q34
likely pathogenic
NM_024537.4(CARS2):c.889G>A (p.Glu297Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000547358] Chr13:110667370 [GRCh38]
Chr13:111319717 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.24A>T (p.Pro8=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000542753] Chr13:110706070 [GRCh38]
Chr13:111358417 [GRCh37]
Chr13:13q34
likely benign
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050921]|See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34
pathogenic
NM_024537.4(CARS2):c.2T>C (p.Met1Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001340732]|not provided [RCV000255570] Chr13:110706092 [GRCh38]
Chr13:111358439 [GRCh37]
Chr13:13q34
pathogenic|uncertain significance
NM_024537.4(CARS2):c.1693T>G (p.Ter565Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001348745] Chr13:110641539 [GRCh38]
Chr13:111293886 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.571+2T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001312706] Chr13:110687719 [GRCh38]
Chr13:111340066 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.225-2A>G single nucleotide variant Combined oxidative phosphorylation deficiency 27 [RCV001333181] Chr13:110705573 [GRCh38]
Chr13:111357920 [GRCh37]
Chr13:13q34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
NM_024537.4(CARS2):c.1624-12C>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002060213]|not provided [RCV000514715]|not specified [RCV000603290] Chr13:110641620 [GRCh38]
Chr13:111293967 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.179G>A (p.Gly60Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001313150] Chr13:110705915 [GRCh38]
Chr13:111358262 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1623+4A>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001312715] Chr13:110642311 [GRCh38]
Chr13:111294658 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1377G>C (p.Gln459His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001332523] Chr13:110644424 [GRCh38]
Chr13:111296771 [GRCh37]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q34(chr13:109862835-110921746)x3 copy number gain See cases [RCV000136625] Chr13:109862835..110921746 [GRCh38]
Chr13:110515182..111574093 [GRCh37]
Chr13:109313183..110372094 [NCBI36]
Chr13:13q34
uncertain significance
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 copy number gain See cases [RCV000139021] Chr13:95744855..110863818 [GRCh38]
Chr13:96397109..111516165 [GRCh37]
Chr13:95195110..110314166 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1 copy number loss See cases [RCV000141465] Chr13:107708655..112101112 [GRCh38]
Chr13:108361003..112755426 [GRCh37]
Chr13:107159004..111803427 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q33.1-34(chr13:103914488-110857896)x3 copy number gain See cases [RCV000143101] Chr13:103914488..110857896 [GRCh38]
Chr13:104566838..111510243 [GRCh37]
Chr13:103364839..110308244 [NCBI36]
Chr13:13q33.1-34
uncertain significance
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34
uncertain significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000156934]|not provided [RCV000494053] Chr13:110683051 [GRCh38]
Chr13:111335398 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic|uncertain significance|not provided
NM_024537.2(CARS2):c.649_651delGAG deletion Combined oxidative phosphorylation defect type 27 [RCV000202402] Chr13:110683055..110683057 [GRCh38]
Chr13:111335402..111335404 [GRCh37]
Chr13:13q34
pathogenic|likely pathogenic|uncertain significance
NM_024537.2(CARS2):c.752C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000202394] Chr13:110677007 [GRCh38]
Chr13:111329354 [GRCh37]
Chr13:13q34
pathogenic|uncertain significance
NM_024537.4(CARS2):c.21C>T (p.Gly7=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002105503] Chr13:110706073 [GRCh38]
Chr13:111358420 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000524838]|not provided [RCV001584347] Chr13:110641600 [GRCh38]
Chr13:111293947 [GRCh37]
Chr13:13q34
likely benign|conflicting interpretations of pathogenicity
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000553087]|not provided [RCV001566887] Chr13:110701529 [GRCh38]
Chr13:111353876 [GRCh37]
Chr13:13q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024537.4(CARS2):c.1032C>T (p.Cys344=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000552176] Chr13:110651056 [GRCh38]
Chr13:111303403 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.33C>A (p.Gly11=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000531656] Chr13:110706061 [GRCh38]
Chr13:111358408 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1011C>T (p.Pro337=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000530955]|not specified [RCV000605916] Chr13:110651077 [GRCh38]
Chr13:111303424 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1008C>T (p.Ser336=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002064289]|not specified [RCV000602631] Chr13:110651080 [GRCh38]
Chr13:111303427 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1048C>G (p.Arg350Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000530744] Chr13:110651040 [GRCh38]
Chr13:111303387 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1623+17G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002060651]|not specified [RCV000599799] Chr13:110642298 [GRCh38]
Chr13:111294645 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1473G>A (p.Val491=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001488074]|not provided [RCV000942655]|not specified [RCV000601468] Chr13:110642465 [GRCh38]
Chr13:111294812 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.224+10G>T single nucleotide variant not provided [RCV000533003] Chr13:110705860 [GRCh38]
Chr13:111358207 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1318-10T>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001226270]|not provided [RCV000522114] Chr13:110644493 [GRCh38]
Chr13:111296840 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1624-13TCT[4] microsatellite Combined oxidative phosphorylation defect type 27 [RCV000554899] Chr13:110641612..110641613 [GRCh38]
Chr13:111293959..111293960 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1489G>A (p.Val497Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000536944]|not provided [RCV001722519] Chr13:110642449 [GRCh38]
Chr13:111294796 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000559481]|not provided [RCV001712576] Chr13:110706030 [GRCh38]
Chr13:111358377 [GRCh37]
Chr13:13q34
benign|uncertain significance
NM_024537.4(CARS2):c.1059C>T (p.Ile353=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000559877] Chr13:110647235 [GRCh38]
Chr13:111299582 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1623+10G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000540156] Chr13:110642305 [GRCh38]
Chr13:111294652 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106941499-113674752)x3 copy number gain See cases [RCV000447024] Chr13:106941499..113674752 [GRCh37]
Chr13:13q33.2-34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111282121-115107733)x1 copy number loss See cases [RCV000447085] Chr13:111282121..115107733 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)x1 copy number loss See cases [RCV000447192] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101357397-115107733)x3 copy number gain See cases [RCV000447642] Chr13:101357397..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
NM_024537.4(CARS2):c.394-13A>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002059655]|not provided [RCV001712384] Chr13:110688031 [GRCh38]
Chr13:111340378 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001515624]|not specified [RCV000423768] Chr13:110687754 [GRCh38]
Chr13:111340101 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.852A>G (p.Glu284=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001515224]|not specified [RCV000441388] Chr13:110667407 [GRCh38]
Chr13:111319754 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.855C>T (p.Asn285=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000896288]|not specified [RCV000427401] Chr13:110667404 [GRCh38]
Chr13:111319751 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
NM_024537.4(CARS2):c.1608C>T (p.His536=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002063485]|not specified [RCV000418215] Chr13:110642330 [GRCh38]
Chr13:111294677 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.647G>A (p.Gly216Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000549248]|not specified [RCV000418234] Chr13:110683059 [GRCh38]
Chr13:111335406 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.920-18C>T single nucleotide variant not specified [RCV000418286] Chr13:110663536 [GRCh38]
Chr13:111315883 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1407A>C (p.Ala469=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002065019]|not specified [RCV000421164] Chr13:110644394 [GRCh38]
Chr13:111296741 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.-23A>G single nucleotide variant not specified [RCV000435217] Chr13:110706116 [GRCh38]
Chr13:111358463 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000534319]|not specified [RCV000442490] Chr13:110683120 [GRCh38]
Chr13:111335467 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652715]|not provided [RCV001704295] Chr13:110642407 [GRCh38]
Chr13:111294754 [GRCh37]
Chr13:13q34
benign|likely benign
GRCh37/hg19 13q34(chr13:111058488-111317455)x3 copy number gain See cases [RCV000445721] Chr13:111058488..111317455 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_024537.4(CARS2):c.930C>T (p.His310=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000945570]|not provided [RCV001704510] Chr13:110663508 [GRCh38]
Chr13:111315855 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.1318-18C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002058911]|not specified [RCV000421476] Chr13:110644501 [GRCh38]
Chr13:111296848 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.417C>T (p.Leu139=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001515225]|not specified [RCV000428508] Chr13:110687995 [GRCh38]
Chr13:111340342 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.466-18G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002062621]|not specified [RCV000432089] Chr13:110687844 [GRCh38]
Chr13:111340191 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.465+14C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002059859]|not specified [RCV000439160] Chr13:110687933 [GRCh38]
Chr13:111340280 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1318-12G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001519914]|not provided [RCV001703577] Chr13:110644495 [GRCh38]
Chr13:111296842 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000960764]|not provided [RCV001698311] Chr13:110645976 [GRCh38]
Chr13:111298323 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000558835]|not specified [RCV000425510] Chr13:110647162 [GRCh38]
Chr13:111299509 [GRCh37]
Chr13:13q34
benign
NM_001352252.2(CARS2):c.-776+230C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001554576]|not specified [RCV000429019] Chr13:110706141 [GRCh38]
Chr13:111358488 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1054+8G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000545487]|not specified [RCV000429381] Chr13:110651026 [GRCh38]
Chr13:111303373 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.-15G>C single nucleotide variant not specified [RCV000429517] Chr13:110706108 [GRCh38]
Chr13:111358455 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.564G>A (p.Thr188=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000535825]|not provided [RCV001712247] Chr13:110687728 [GRCh38]
Chr13:111340075 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.1417-17C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002062536]|not specified [RCV000440021] Chr13:110642538 [GRCh38]
Chr13:111294885 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000539684]|not provided [RCV001703661] Chr13:110641551 [GRCh38]
Chr13:111293898 [GRCh37]
Chr13:13q34
benign|likely benign
NM_024537.4(CARS2):c.1074C>T (p.Ser358=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652717]|not provided [RCV001704509] Chr13:110647220 [GRCh38]
Chr13:111299567 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1317+10C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000548214]|not specified [RCV000433550] Chr13:110645957 [GRCh38]
Chr13:111298304 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1239T>C (p.Asp413=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001518176]|not specified [RCV000420207] Chr13:110646045 [GRCh38]
Chr13:111298392 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001522396]|not specified [RCV000440808] Chr13:110641568 [GRCh38]
Chr13:111293915 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1503G>A (p.Ala501=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000950524]|not specified [RCV000440951] Chr13:110642435 [GRCh38]
Chr13:111294782 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)x1 copy number loss See cases [RCV000448783] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
NM_024537.4(CARS2):c.572-3_572-2del deletion Combined oxidative phosphorylation defect type 27 [RCV000546165]|not specified [RCV000481673] Chr13:110683136..110683137 [GRCh38]
Chr13:111335483..111335484 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1 copy number loss See cases [RCV000512127] Chr13:103170306..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 copy number loss See cases [RCV000512069] Chr13:109151651..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1 copy number loss See cases [RCV000510433] Chr13:103880953..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_024537.4(CARS2):c.1118T>C (p.Phe373Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000533658] Chr13:110647176 [GRCh38]
Chr13:111299523 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.666C>G (p.Asp222Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000533958] Chr13:110677093 [GRCh38]
Chr13:111329440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.122C>T (p.Ala41Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000537989]|not provided [RCV001560604] Chr13:110705972 [GRCh38]
Chr13:111358319 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000557366]|Inborn genetic diseases [RCV001266184] Chr13:110687729 [GRCh38]
Chr13:111340076 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1650G>A (p.Trp550Ter) single nucleotide variant Inborn genetic diseases [RCV000622913] Chr13:110641582 [GRCh38]
Chr13:111293929 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1360dup (p.Ile454fs) duplication Combined oxidative phosphorylation defect type 27 [RCV001199369]|Inborn genetic diseases [RCV000623071] Chr13:110644440..110644441 [GRCh38]
Chr13:111296787..111296788 [GRCh37]
Chr13:13q34
pathogenic
NM_024537.4(CARS2):c.1135G>A (p.Ala379Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001212289]|Inborn genetic diseases [RCV000624652] Chr13:110647159 [GRCh38]
Chr13:111299506 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1689G>A (p.Ala563=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001427926]|not specified [RCV000602179] Chr13:110641543 [GRCh38]
Chr13:111293890 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1194-17C>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002063956]|not specified [RCV000602449] Chr13:110646107 [GRCh38]
Chr13:111298454 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1683dup (p.Ser562fs) duplication Combined oxidative phosphorylation defect type 27 [RCV000554559]|not provided [RCV002245012] Chr13:110641548..110641549 [GRCh38]
Chr13:111293895..111293896 [GRCh37]
Chr13:13q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024537.4(CARS2):c.-7C>A single nucleotide variant not specified [RCV000609498] Chr13:110706100 [GRCh38]
Chr13:111358447 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1647G>A (p.Thr549=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000935690]|not provided [RCV001697468] Chr13:110641585 [GRCh38]
Chr13:111293932 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.571+11T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002064101]|not specified [RCV000609848] Chr13:110687710 [GRCh38]
Chr13:111340057 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.920-18C>A single nucleotide variant not specified [RCV000609868] Chr13:110663536 [GRCh38]
Chr13:111315883 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.528T>C (p.Ile176=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001417021]|not provided [RCV000970005]|not specified [RCV000609873] Chr13:110687764 [GRCh38]
Chr13:111340111 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000560417]|Inborn genetic diseases [RCV000624612] Chr13:110683132 [GRCh38]
Chr13:111335479 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.744C>T (p.Pro248=) single nucleotide variant not specified [RCV000613259] Chr13:110677015 [GRCh38]
Chr13:111329362 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.741A>T (p.Gly247=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001496412]|not provided [RCV001718922] Chr13:110677018 [GRCh38]
Chr13:111329365 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1257G>A (p.Val419=) single nucleotide variant not specified [RCV000611981] Chr13:110646027 [GRCh38]
Chr13:111298374 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652707] Chr13:110644470 [GRCh38]
Chr13:111296817 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1574C>T (p.Ala525Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652708] Chr13:110642364 [GRCh38]
Chr13:111294711 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.244G>A (p.Val82Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652709]|not provided [RCV001592823] Chr13:110705552 [GRCh38]
Chr13:111357899 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_024537.4(CARS2):c.628G>A (p.Val210Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652711] Chr13:110683078 [GRCh38]
Chr13:111335425 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.786-4G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652712] Chr13:110667477 [GRCh38]
Chr13:111319824 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.466G>T (p.Val156Phe) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652710]|not provided [RCV001546303] Chr13:110687826 [GRCh38]
Chr13:111340173 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652713] Chr13:110642403 [GRCh38]
Chr13:111294750 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.498C>G (p.Thr166=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652714] Chr13:110687794 [GRCh38]
Chr13:111340141 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1266C>T (p.Ala422=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000652716] Chr13:110646018 [GRCh38]
Chr13:111298365 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1 copy number loss See cases [RCV000512257] Chr13:96586481..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_024537.4(CARS2):c.1141A>G (p.Met381Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001045200]|Inborn genetic diseases [RCV000623877] Chr13:110647153 [GRCh38]
Chr13:111299500 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
NM_024537.4(CARS2):c.1465G>A (p.Glu489Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000698958] Chr13:110642473 [GRCh38]
Chr13:111294820 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:110590097-111395766)x3 copy number gain not provided [RCV000683535] Chr13:110590097..111395766 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1 copy number loss not provided [RCV000683567] Chr13:105389857..113467489 [GRCh37]
Chr13:13q33.2-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1 copy number loss not provided [RCV000683563] Chr13:109771548..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1 copy number loss not provided [RCV000683566] Chr13:108083664..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3 copy number gain not provided [RCV000683565] Chr13:108567578..115107733 [GRCh37]
Chr13:13q33.3-34
pathogenic
NM_024537.4(CARS2):c.1649G>A (p.Trp550Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000700432] Chr13:110641583 [GRCh38]
Chr13:111293930 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.178G>C (p.Gly60Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000686852] Chr13:110705916 [GRCh38]
Chr13:111358263 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.646G>A (p.Gly216Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000707056] Chr13:110683060 [GRCh38]
Chr13:111335407 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1177G>A (p.Ala393Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000690553] Chr13:110647117 [GRCh38]
Chr13:111299464 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.98C>G (p.Ala33Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000699478] Chr13:110705996 [GRCh38]
Chr13:111358343 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.238C>A (p.Pro80Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000685061] Chr13:110705558 [GRCh38]
Chr13:111357905 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1537C>T (p.Arg513Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000687322] Chr13:110642401 [GRCh38]
Chr13:111294748 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1324G>C (p.Glu442Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000709783] Chr13:110644477 [GRCh38]
Chr13:111296824 [GRCh37]
Chr13:13q34
not provided
NM_024537.4(CARS2):c.1505T>C (p.Leu502Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000690407] Chr13:110642433 [GRCh38]
Chr13:111294780 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1259T>C (p.Val420Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000693823] Chr13:110646025 [GRCh38]
Chr13:111298372 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.94C>G (p.Arg32Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000703325] Chr13:110706000 [GRCh38]
Chr13:111358347 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.155T>G (p.Val52Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000703641] Chr13:110705939 [GRCh38]
Chr13:111358286 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.200T>C (p.Val67Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000694592] Chr13:110705894 [GRCh38]
Chr13:111358241 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1075G>A (p.Ala359Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000806043] Chr13:110647219 [GRCh38]
Chr13:111299566 [GRCh37]
Chr13:13q34
uncertain significance
NM_001352252.2(CARS2):c.-776+135C>T single nucleotide variant not provided [RCV001537466] Chr13:110706236 [GRCh38]
Chr13:111358583 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q32.3-34(chr13:101075864-115105020)x1 copy number loss not provided [RCV000738357] Chr13:101075864..115105020 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104539503-115103529)x1 copy number loss not provided [RCV000750890] Chr13:104539503..115103529 [GRCh37]
Chr13:13q33.1-34
pathogenic
GRCh37/hg19 13q34(chr13:111152478-114527838)x1 copy number loss not provided [RCV000750904] Chr13:111152478..114527838 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q34(chr13:111167417-111330405)x3 copy number gain not provided [RCV000750905] Chr13:111167417..111330405 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:111217422-115103529)x1 copy number loss not provided [RCV000750906] Chr13:111217422..115103529 [GRCh37]
Chr13:13q34
pathogenic
GRCh37/hg19 13q34(chr13:111329426-111330295)x1 copy number loss not provided [RCV000750907] Chr13:111329426..111330295 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q34(chr13:111329535-111330354)x1 copy number loss not provided [RCV000750908] Chr13:111329535..111330354 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.394-157C>T single nucleotide variant not provided [RCV001724429] Chr13:110688175 [GRCh38]
Chr13:111340522 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.394-228del deletion not provided [RCV001724434] Chr13:110688246 [GRCh38]
Chr13:111340593 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.118C>A (p.Arg40=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000940607] Chr13:110705976 [GRCh38]
Chr13:111358323 [GRCh37]
Chr13:13q34
likely benign
Single allele deletion not provided [RCV001645100] Chr13:110641239 [GRCh38]
Chr13:111293586 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1054+35del deletion not provided [RCV001669180] Chr13:110650999 [GRCh38]
Chr13:111303346 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1054+188G>C single nucleotide variant not provided [RCV001569630] Chr13:110650846 [GRCh38]
Chr13:111303193 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.276-312T>C single nucleotide variant not provided [RCV001644123] Chr13:110701867 [GRCh38]
Chr13:111354214 [GRCh37]
Chr13:13q34
benign
NM_001352252.2(CARS2):c.-776+17C>T single nucleotide variant not provided [RCV001681328] Chr13:110706354 [GRCh38]
Chr13:111358701 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.655+290C>T single nucleotide variant not provided [RCV001612613] Chr13:110682761 [GRCh38]
Chr13:111335108 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.125G>C (p.Trp42Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002072309]|not provided [RCV001586313] Chr13:110705969 [GRCh38]
Chr13:111358316 [GRCh37]
Chr13:13q34
likely benign|uncertain significance
NM_024537.4(CARS2):c.1417-9T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001438085]|not provided [RCV000951463] Chr13:110642530 [GRCh38]
Chr13:111294877 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.15G>C (p.Thr5=) single nucleotide variant not provided [RCV000925537] Chr13:110706079 [GRCh38]
Chr13:111358426 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1417-10C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000976125] Chr13:110642531 [GRCh38]
Chr13:111294878 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.657G>A (p.Ala219=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000970595] Chr13:110677102 [GRCh38]
Chr13:111329449 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.780C>T (p.Ile260=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000966697] Chr13:110676979 [GRCh38]
Chr13:111329326 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000949193]|not provided [RCV001772172] Chr13:110642490 [GRCh38]
Chr13:111294837 [GRCh37]
Chr13:13q34
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024537.4(CARS2):c.634C>T (p.Pro212Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001038702] Chr13:110683072 [GRCh38]
Chr13:111335419 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1538G>A (p.Arg513Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001056063]|not provided [RCV001840780] Chr13:110642400 [GRCh38]
Chr13:111294747 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1427G>T (p.Gly476Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001047720] Chr13:110642511 [GRCh38]
Chr13:111294858 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.217G>T (p.Ala73Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001039112] Chr13:110705877 [GRCh38]
Chr13:111358224 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.11:g.(?_110641517)_(110677123_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV001033532] Chr13:111293864..111329470 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1288G>A (p.Gly430Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001069735] Chr13:110645996 [GRCh38]
Chr13:111298343 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.571+6G>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001053561] Chr13:110687715 [GRCh38]
Chr13:111340062 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.931G>A (p.Ala311Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001072045] Chr13:110663507 [GRCh38]
Chr13:111315854 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1250C>G (p.Pro417Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001036111] Chr13:110646034 [GRCh38]
Chr13:111298381 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1306del (p.Ala436fs) deletion Combined oxidative phosphorylation defect type 27 [RCV001034786] Chr13:110645978 [GRCh38]
Chr13:111298325 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.655+4G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001040320] Chr13:110683047 [GRCh38]
Chr13:111335394 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1112G>A (p.Gly371Asp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001054591] Chr13:110647182 [GRCh38]
Chr13:111299529 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1167C>T (p.Ser389=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000888291] Chr13:110647127 [GRCh38]
Chr13:111299474 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13q33.1-34(chr13:101881803-115091330) copy number gain not provided [RCV000767821] Chr13:101881803..115091330 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_024537.4(CARS2):c.1233A>C (p.Ala411=) single nucleotide variant not provided [RCV000979269] Chr13:110646051 [GRCh38]
Chr13:111298398 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1086A>G (p.Gln362=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001411360]|not provided [RCV000945265] Chr13:110647208 [GRCh38]
Chr13:111299555 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.25G>C (p.Gly9Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000796618] Chr13:110706069 [GRCh38]
Chr13:111358416 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1055-132G>A single nucleotide variant not provided [RCV000835640] Chr13:110647371 [GRCh38]
Chr13:111299718 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1334G>T (p.Arg445Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000798058] Chr13:110644467 [GRCh38]
Chr13:111296814 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1054+7C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001402414]|not provided [RCV000936341] Chr13:110651027 [GRCh38]
Chr13:111303374 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1317+24T>C single nucleotide variant not provided [RCV000834876] Chr13:110645943 [GRCh38]
Chr13:111298290 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.656-205T>G single nucleotide variant not provided [RCV000843614] Chr13:110677308 [GRCh38]
Chr13:111329655 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.920-196G>A single nucleotide variant not provided [RCV000843618] Chr13:110663714 [GRCh38]
Chr13:111316061 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.920-178C>G single nucleotide variant not provided [RCV000843619] Chr13:110663696 [GRCh38]
Chr13:111316043 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1317+244A>C single nucleotide variant not provided [RCV000843629] Chr13:110645723 [GRCh38]
Chr13:111298070 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.655+7T>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000914334] Chr13:110683044 [GRCh38]
Chr13:111335391 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1287C>T (p.His429=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001080573]|not provided [RCV000838622] Chr13:110645997 [GRCh38]
Chr13:111298344 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000795067] Chr13:110687752 [GRCh38]
Chr13:111340099 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.851_852delinsGG (p.Glu284Gly) indel Combined oxidative phosphorylation defect type 27 [RCV000798921] Chr13:110667407..110667408 [GRCh38]
Chr13:111319754..111319755 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.10A>T (p.Thr4Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000817009] Chr13:110706084 [GRCh38]
Chr13:111358431 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1A>T (p.Met1Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000813200] Chr13:110706093 [GRCh38]
Chr13:111358440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1516G>A (p.Glu506Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000813435] Chr13:110642422 [GRCh38]
Chr13:111294769 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.431A>G (p.Glu144Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000800429] Chr13:110687981 [GRCh38]
Chr13:111340328 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.766G>A (p.Glu256Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000817126] Chr13:110676993 [GRCh38]
Chr13:111329340 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1579G>A (p.Asp527Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000797322] Chr13:110642359 [GRCh38]
Chr13:111294706 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1437C>T (p.Ser479=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000804823] Chr13:110642501 [GRCh38]
Chr13:111294848 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1589G>A (p.Arg530His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000822180]|not provided [RCV002254946] Chr13:110642349 [GRCh38]
Chr13:111294696 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q34(chr13:111344288-111384093)x3 copy number gain not provided [RCV000845961] Chr13:111344288..111384093 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1420G>A (p.Val474Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000811091] Chr13:110642518 [GRCh38]
Chr13:111294865 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1055-318C>T single nucleotide variant not provided [RCV000832946] Chr13:110647557 [GRCh38]
Chr13:111299904 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000791128] Chr13:110641603 [GRCh38]
Chr13:111293950 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.562A>G (p.Thr188Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000818131] Chr13:110687730 [GRCh38]
Chr13:111340077 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.785+231G>T single nucleotide variant not provided [RCV000833422] Chr13:110676743 [GRCh38]
Chr13:111329090 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.276-208A>G single nucleotide variant not provided [RCV000843610] Chr13:110701763 [GRCh38]
Chr13:111354110 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.572-248G>T single nucleotide variant not provided [RCV000843611] Chr13:110683382 [GRCh38]
Chr13:111335729 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.987+247T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001554355]|not provided [RCV000843621] Chr13:110663204 [GRCh38]
Chr13:111315551 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.987+292T>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001554354]|not provided [RCV000843622] Chr13:110663159 [GRCh38]
Chr13:111315506 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1054+181T>C single nucleotide variant not provided [RCV000843624] Chr13:110650853 [GRCh38]
Chr13:111303200 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.656C>T (p.Ala219Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000815821] Chr13:110677103 [GRCh38]
Chr13:111329450 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.871G>A (p.Glu291Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000822331] Chr13:110667388 [GRCh38]
Chr13:111319735 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.393+82C>T single nucleotide variant not provided [RCV000834869] Chr13:110701356 [GRCh38]
Chr13:111353703 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.671G>A (p.Arg224His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000792454] Chr13:110677088 [GRCh38]
Chr13:111329435 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion not provided [RCV000845021] Chr13:107452288..115092569 [GRCh37]
Chr13:13q33.3-34
not provided
NM_024537.4(CARS2):c.785+121del deletion not provided [RCV000835497] Chr13:110676853 [GRCh38]
Chr13:111329200 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.920-169C>T single nucleotide variant not provided [RCV000832380] Chr13:110663687 [GRCh38]
Chr13:111316034 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.408C>G (p.Pro136=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001491945]|not provided [RCV000979876] Chr13:110688004 [GRCh38]
Chr13:111340351 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.982A>G (p.Ile328Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000814428] Chr13:110663456 [GRCh38]
Chr13:111315803 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.11:g.(?_110667320)_(110705591_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV001031657] Chr13:111319667..111357938 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3 copy number gain not provided [RCV000848672] Chr13:109203109..115107733 [GRCh37]
Chr13:13q33.3-34
uncertain significance
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34
uncertain significance
NM_024537.4(CARS2):c.37C>G (p.Pro13Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001044609] Chr13:110706057 [GRCh38]
Chr13:111358404 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.11:g.110646091del deletion Combined oxidative phosphorylation defect type 27 [RCV001202832] Chr13:110646090 [GRCh38]
Chr13:111298437 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.292G>C (p.Asp98His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001230882] Chr13:110701539 [GRCh38]
Chr13:111353886 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_024537.4(CARS2):c.1438G>A (p.Glu480Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001222367] Chr13:110642500 [GRCh38]
Chr13:111294847 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1541A>G (p.Gln514Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001240205] Chr13:110642397 [GRCh38]
Chr13:111294744 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.301C>G (p.Arg101Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001202799] Chr13:110701530 [GRCh38]
Chr13:111353877 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1510A>G (p.Met504Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001220739] Chr13:110642428 [GRCh38]
Chr13:111294775 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1481G>A (p.Arg494Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001231768] Chr13:110642457 [GRCh38]
Chr13:111294804 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1036C>T (p.Arg346Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001209218] Chr13:110651052 [GRCh38]
Chr13:111303399 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1310C>A (p.Ser437Tyr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001223837] Chr13:110645974 [GRCh38]
Chr13:111298321 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1A>G (p.Met1Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001210932] Chr13:110706093 [GRCh38]
Chr13:111358440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001221561] Chr13:110642329 [GRCh38]
Chr13:111294676 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.221C>T (p.Ser74Phe) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001211238] Chr13:110705873 [GRCh38]
Chr13:111358220 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1492C>A (p.Arg498=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001202157] Chr13:110642446 [GRCh38]
Chr13:111294793 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.662C>G (p.Ser221Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001233975] Chr13:110677097 [GRCh38]
Chr13:111329444 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001249205] Chr13:110642512 [GRCh38]
Chr13:111294859 [GRCh37]
Chr13:13q34
likely pathogenic
NM_024537.4(CARS2):c.1021C>T (p.Arg341Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001246623] Chr13:110651067 [GRCh38]
Chr13:111303414 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1417-57dup duplication Combined oxidative phosphorylation defect type 27 [RCV001554353]|not provided [RCV001713135] Chr13:110642573..110642574 [GRCh38]
Chr13:111294920..111294921 [GRCh37]
Chr13:13q34
benign
Single allele single nucleotide variant not provided [RCV001638894] Chr13:110641293 [GRCh38]
Chr13:111293640 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1624-299_1624-295del deletion not provided [RCV001591984] Chr13:110641903..110641907 [GRCh38]
Chr13:111294250..111294254 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.571+29C>T single nucleotide variant not provided [RCV001718022] Chr13:110687692 [GRCh38]
Chr13:111340039 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.571+334G>A single nucleotide variant not provided [RCV001589439] Chr13:110687387 [GRCh38]
Chr13:111339734 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.785+222G>A single nucleotide variant not provided [RCV001696168] Chr13:110676752 [GRCh38]
Chr13:111329099 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1054+161G>A single nucleotide variant not provided [RCV001616119] Chr13:110650873 [GRCh38]
Chr13:111303220 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1054+268C>T single nucleotide variant not provided [RCV001594579] Chr13:110650766 [GRCh38]
Chr13:111303113 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.571+30dup duplication not provided [RCV001714377] Chr13:110687678..110687679 [GRCh38]
Chr13:111340025..111340026 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.988-10G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000909775] Chr13:110651110 [GRCh38]
Chr13:111303457 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1590C>T (p.Arg530=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000914631] Chr13:110642348 [GRCh38]
Chr13:111294695 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.279A>T (p.Ser93=) single nucleotide variant not provided [RCV000888167] Chr13:110701552 [GRCh38]
Chr13:111353899 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1644C>G (p.Ser548=) single nucleotide variant not provided [RCV000975481] Chr13:110641588 [GRCh38]
Chr13:111293935 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1161C>T (p.Cys387=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000938969] Chr13:110647133 [GRCh38]
Chr13:111299480 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.136A>G (p.Thr46Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000907615] Chr13:110705958 [GRCh38]
Chr13:111358305 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1194-3C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001238620] Chr13:110646093 [GRCh38]
Chr13:111298440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1463A>G (p.Asp488Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001225774] Chr13:110642475 [GRCh38]
Chr13:111294822 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1037G>A (p.Arg346Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001203210] Chr13:110651051 [GRCh38]
Chr13:111303398 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.262C>T (p.Leu88Phe) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001238809] Chr13:110705534 [GRCh38]
Chr13:111357881 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1168G>A (p.Val390Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001242701] Chr13:110647126 [GRCh38]
Chr13:111299473 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.987+6G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001214476] Chr13:110663445 [GRCh38]
Chr13:111315792 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1592G>A (p.Arg531Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001201867] Chr13:110642346 [GRCh38]
Chr13:111294693 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.394A>T (p.Met132Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001240025] Chr13:110688018 [GRCh38]
Chr13:111340365 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.997A>G (p.Lys333Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001043908] Chr13:110651091 [GRCh38]
Chr13:111303438 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1666A>G (p.Arg556Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001069065] Chr13:110641566 [GRCh38]
Chr13:111293913 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1493G>A (p.Arg498Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001243913] Chr13:110642445 [GRCh38]
Chr13:111294792 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.323T>G (p.Phe108Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001209460] Chr13:110701508 [GRCh38]
Chr13:111353855 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.954G>A (p.Met318Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001234748] Chr13:110663484 [GRCh38]
Chr13:111315831 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.5T>G (p.Leu2Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001237820] Chr13:110706089 [GRCh38]
Chr13:111358436 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.499G>A (p.Glu167Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001046042] Chr13:110687793 [GRCh38]
Chr13:111340140 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1480C>T (p.Arg494Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001212187] Chr13:110642458 [GRCh38]
Chr13:111294805 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1109T>A (p.Leu370Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001225590] Chr13:110647185 [GRCh38]
Chr13:111299532 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.408C>T (p.Pro136=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000957293] Chr13:110688004 [GRCh38]
Chr13:111340351 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.393+9A>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV000890546] Chr13:110701429 [GRCh38]
Chr13:111353776 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1041C>T (p.Ser347=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001411772]|not provided [RCV000935945] Chr13:110651047 [GRCh38]
Chr13:111303394 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1194-95C>T single nucleotide variant not provided [RCV001720798] Chr13:110646185 [GRCh38]
Chr13:111298532 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1193+25C>T single nucleotide variant not provided [RCV001556805] Chr13:110647076 [GRCh38]
Chr13:111299423 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.655+283T>G single nucleotide variant not provided [RCV001568014] Chr13:110682768 [GRCh38]
Chr13:111335115 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1318-142C>T single nucleotide variant not provided [RCV001558421] Chr13:110644625 [GRCh38]
Chr13:111296972 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1084C>T (p.Gln362Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002032613]|not provided [RCV001555782] Chr13:110647210 [GRCh38]
Chr13:111299557 [GRCh37]
Chr13:13q34
likely pathogenic|uncertain significance
NM_024537.4(CARS2):c.701C>T (p.Ala234Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001065956] Chr13:110677058 [GRCh38]
Chr13:111329405 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.38del (p.Pro13fs) deletion Combined oxidative phosphorylation defect type 27 [RCV001371593]|not provided [RCV001008175] Chr13:110706056 [GRCh38]
Chr13:111358403 [GRCh37]
Chr13:13q34
likely pathogenic|uncertain significance
NM_024537.4(CARS2):c.1317+113G>A single nucleotide variant not provided [RCV001540664] Chr13:110645854 [GRCh38]
Chr13:111298201 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.*37C>T single nucleotide variant not provided [RCV001716763] Chr13:110641500 [GRCh38]
Chr13:111293847 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.276-113dup duplication not provided [RCV001619136] Chr13:110701666..110701667 [GRCh38]
Chr13:111354013..111354014 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.786-64C>T single nucleotide variant not provided [RCV001616174] Chr13:110667537 [GRCh38]
Chr13:111319884 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.225-82A>C single nucleotide variant not provided [RCV001715094] Chr13:110705653 [GRCh38]
Chr13:111358000 [GRCh37]
Chr13:13q34
benign
NM_001352252.2(CARS2):c.-776+13C>T single nucleotide variant not provided [RCV001636136] Chr13:110706358 [GRCh38]
Chr13:111358705 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1417-131G>A single nucleotide variant not provided [RCV001719692] Chr13:110642652 [GRCh38]
Chr13:111294999 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.571+12G>T single nucleotide variant not provided [RCV001594790] Chr13:110687709 [GRCh38]
Chr13:111340056 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1054+141T>A single nucleotide variant not provided [RCV001618790] Chr13:110650893 [GRCh38]
Chr13:111303240 [GRCh37]
Chr13:13q34
benign
GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1 copy number loss not provided [RCV001006591] Chr13:96895656..115107733 [GRCh37]
Chr13:13q32.1-34
pathogenic
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001067493] Chr13:110642506 [GRCh38]
Chr13:111294853 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1055-133C>T single nucleotide variant not provided [RCV001650062] Chr13:110647372 [GRCh38]
Chr13:111299719 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1040G>A (p.Ser347Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001049121] Chr13:110651048 [GRCh38]
Chr13:111303395 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.571+42del deletion not provided [RCV001613981] Chr13:110687679 [GRCh38]
Chr13:111340026 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1193+230G>C single nucleotide variant not provided [RCV001583078] Chr13:110646871 [GRCh38]
Chr13:111299218 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.785+202C>T single nucleotide variant not provided [RCV001612038] Chr13:110676772 [GRCh38]
Chr13:111329119 [GRCh37]
Chr13:13q34
benign
Single allele duplication not provided [RCV001714312] Chr13:110641336..110641337 [GRCh38]
Chr13:111293683..111293684 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1317+27G>A single nucleotide variant not provided [RCV001574155] Chr13:110645940 [GRCh38]
Chr13:111298287 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1195C>T (p.Leu399Phe) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001067550] Chr13:110646089 [GRCh38]
Chr13:111298436 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.11:g.(?_110641517)_(110667493_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV001031535] Chr13:111293864..111319840 [GRCh37]
Chr13:13q34
uncertain significance
NM_001352252.2(CARS2):c.-776+130G>A single nucleotide variant not provided [RCV001574336] Chr13:110706241 [GRCh38]
Chr13:111358588 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1523C>T (p.Thr508Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001048798] Chr13:110642415 [GRCh38]
Chr13:111294762 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.521C>A (p.Ser174Tyr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001207377] Chr13:110687771 [GRCh38]
Chr13:111340118 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.288A>G (p.Arg96=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001217174] Chr13:110701543 [GRCh38]
Chr13:111353890 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.342G>A (p.Met114Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001219685] Chr13:110701489 [GRCh38]
Chr13:111353836 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.2T>G (p.Met1Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001059993] Chr13:110706092 [GRCh38]
Chr13:111358439 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.728C>T (p.Ala243Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001206418] Chr13:110677031 [GRCh38]
Chr13:111329378 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1129G>A (p.Ala377Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001236745] Chr13:110647165 [GRCh38]
Chr13:111299512 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.224+3G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001056180] Chr13:110705867 [GRCh38]
Chr13:111358214 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
NM_024537.4(CARS2):c.601G>A (p.Gly201Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001071463] Chr13:110683105 [GRCh38]
Chr13:111335452 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.38C>T (p.Pro13Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001056653] Chr13:110706056 [GRCh38]
Chr13:111358403 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.888C>T (p.Cys296=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001219901] Chr13:110667371 [GRCh38]
Chr13:111319718 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.376A>G (p.Ile126Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001053018] Chr13:110701455 [GRCh38]
Chr13:111353802 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1475G>A (p.Arg492Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001057565] Chr13:110642463 [GRCh38]
Chr13:111294810 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1623+3G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001057733] Chr13:110642312 [GRCh38]
Chr13:111294659 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.545G>A (p.Arg182His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001205554] Chr13:110687747 [GRCh38]
Chr13:111340094 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.269A>G (p.His90Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001214073] Chr13:110705527 [GRCh38]
Chr13:111357874 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.11:g.(?_110307904)_(110706093_?)dup duplication not provided [RCV001031538] Chr13:110960251..111358440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.404C>T (p.Ser135Phe) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001215081] Chr13:110688008 [GRCh38]
Chr13:111340355 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.666C>A (p.Asp222Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001207929] Chr13:110677093 [GRCh38]
Chr13:111329440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.71C>T (p.Ala24Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001058826] Chr13:110706023 [GRCh38]
Chr13:111358370 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1049G>A (p.Arg350His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001217386] Chr13:110651039 [GRCh38]
Chr13:111303386 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.632T>C (p.Val211Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001232349] Chr13:110683074 [GRCh38]
Chr13:111335421 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001219539] Chr13:110647132 [GRCh38]
Chr13:111299479 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.914A>G (p.His305Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001248509] Chr13:110667345 [GRCh38]
Chr13:111319692 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.254_255del (p.His85fs) deletion Combined oxidative phosphorylation defect type 27 [RCV001231644] Chr13:110705541..110705542 [GRCh38]
Chr13:111357888..111357889 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1418A>G (p.Tyr473Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001229928] Chr13:110642520 [GRCh38]
Chr13:111294867 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.470T>A (p.Leu157His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001064668] Chr13:110687822 [GRCh38]
Chr13:111340169 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1133G>A (p.Arg378His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001036690] Chr13:110647161 [GRCh38]
Chr13:111299508 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.973T>A (p.Tyr325Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001055402] Chr13:110663465 [GRCh38]
Chr13:111315812 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.739G>A (p.Gly247Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001041289] Chr13:110677020 [GRCh38]
Chr13:111329367 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1307C>T (p.Ala436Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001202413] Chr13:110645977 [GRCh38]
Chr13:111298324 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.868T>C (p.Cys290Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001213338] Chr13:110667391 [GRCh38]
Chr13:111319738 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1474C>T (p.Arg492Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001047387] Chr13:110642464 [GRCh38]
Chr13:111294811 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1430A>G (p.Asp477Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001203083] Chr13:110642508 [GRCh38]
Chr13:111294855 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.373A>G (p.Ile125Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001062642] Chr13:110701458 [GRCh38]
Chr13:111353805 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.217G>A (p.Ala73Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001211849] Chr13:110705877 [GRCh38]
Chr13:111358224 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.625G>T (p.Gly209Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001037971] Chr13:110683081 [GRCh38]
Chr13:111335428 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1438G>C (p.Glu480Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001062836] Chr13:110642500 [GRCh38]
Chr13:111294847 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1207A>G (p.Lys403Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001070329] Chr13:110646077 [GRCh38]
Chr13:111298424 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1667G>C (p.Arg556Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001039443] Chr13:110641565 [GRCh38]
Chr13:111293912 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.383G>T (p.Arg128Ile) single nucleotide variant Microcephaly [RCV001252875] Chr13:110701448 [GRCh38]
Chr13:111353795 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.3-34(chr13:109752674-112352804)x1 copy number loss not provided [RCV001259171] Chr13:109752674..112352804 [GRCh37]
Chr13:13q33.3-34
uncertain significance
NM_024537.4(CARS2):c.1528G>A (p.Asp510Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001348359] Chr13:110642410 [GRCh38]
Chr13:111294757 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion not provided [RCV001260932] Chr13:102175801..115169858 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001332525] Chr13:110706085 [GRCh38]
Chr13:111358432 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1 copy number loss not provided [RCV001259170] Chr13:106256198..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
NM_024537.4(CARS2):c.10A>G (p.Thr4Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001324756] Chr13:110706084 [GRCh38]
Chr13:111358431 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.478A>C (p.Thr160Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001314482] Chr13:110687814 [GRCh38]
Chr13:111340161 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1025TCT[1] (p.Phe343del) microsatellite Combined oxidative phosphorylation defect type 27 [RCV001307316] Chr13:110651058..110651060 [GRCh38]
Chr13:111303405..111303407 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111293884)_(111319830_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV001341078] Chr13:111293884..111319830 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1570G>C (p.Glu524Gln) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001308264] Chr13:110642368 [GRCh38]
Chr13:111294715 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.73G>A (p.Gly25Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001308417] Chr13:110706021 [GRCh38]
Chr13:111358368 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.874G>A (p.Val292Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001308649] Chr13:110667385 [GRCh38]
Chr13:111319732 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.943GAA[1] (p.Glu316del) microsatellite Combined oxidative phosphorylation defect type 27 [RCV001341640] Chr13:110663490..110663492 [GRCh38]
Chr13:111315837..111315839 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.239dup (p.Thr81fs) duplication Combined oxidative phosphorylation deficiency 27 [RCV001332524] Chr13:110705556..110705557 [GRCh38]
Chr13:111357903..111357904 [GRCh37]
Chr13:13q34
pathogenic
NM_024537.4(CARS2):c.1321C>A (p.Pro441Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001301592] Chr13:110644480 [GRCh38]
Chr13:111296827 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1684_1685insA (p.Ser562fs) insertion Combined oxidative phosphorylation defect type 27 [RCV001333180] Chr13:110641547..110641548 [GRCh38]
Chr13:111293894..111293895 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.778A>G (p.Ile260Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001294289] Chr13:110676981 [GRCh38]
Chr13:111329328 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1126G>A (p.Asp376Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001309551] Chr13:110647168 [GRCh38]
Chr13:111299515 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.542C>T (p.Ala181Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001320958] Chr13:110687750 [GRCh38]
Chr13:111340097 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.84G>T (p.Trp28Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001297257] Chr13:110706010 [GRCh38]
Chr13:111358357 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1627A>G (p.Arg543Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001315907] Chr13:110641605 [GRCh38]
Chr13:111293952 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.585C>T (p.Phe195=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001414372] Chr13:110683121 [GRCh38]
Chr13:111335468 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.149C>T (p.Thr50Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001307492] Chr13:110705945 [GRCh38]
Chr13:111358292 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion Factor X deficiency [RCV001807695] Chr13:110801268..113803893 [GRCh37]
Chr13:13q34
likely pathogenic
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34
pathogenic
NC_000013.10:g.(?_111319667)_(111357938_?)dup duplication Combined oxidative phosphorylation deficiency 27 [RCV001315011] Chr13:111319667..111357938 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.670C>T (p.Arg224Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001359293] Chr13:110677089 [GRCh38]
Chr13:111329436 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1566G>A (p.Leu522=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001397524] Chr13:110642372 [GRCh38]
Chr13:111294719 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.398A>G (p.Asn133Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001371498] Chr13:110688014 [GRCh38]
Chr13:111340361 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1292A>G (p.Asn431Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001373520] Chr13:110645992 [GRCh38]
Chr13:111298339 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1006T>G (p.Ser336Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001373174] Chr13:110651082 [GRCh38]
Chr13:111303429 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.535A>C (p.Ile179Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001344661] Chr13:110687757 [GRCh38]
Chr13:111340104 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.224+4G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001362825] Chr13:110705866 [GRCh38]
Chr13:111358213 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1540C>A (p.Gln514Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001320076] Chr13:110642398 [GRCh38]
Chr13:111294745 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1157C>T (p.Ala386Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001318669] Chr13:110647137 [GRCh38]
Chr13:111299484 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.527T>C (p.Ile176Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001343816] Chr13:110687765 [GRCh38]
Chr13:111340112 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.527T>G (p.Ile176Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001301765] Chr13:110687765 [GRCh38]
Chr13:111340112 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.516A>G (p.Ile172Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001321993] Chr13:110687776 [GRCh38]
Chr13:111340123 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1311_1312insTTC (p.Ser437_Leu438insPhe) insertion Combined oxidative phosphorylation defect type 27 [RCV001322074] Chr13:110645972..110645973 [GRCh38]
Chr13:111298319..111298320 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.884A>C (p.Gln295Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001361521] Chr13:110667375 [GRCh38]
Chr13:111319722 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1631G>A (p.Ser544Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001308808] Chr13:110641601 [GRCh38]
Chr13:111293948 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.922C>G (p.His308Asp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001341308] Chr13:110663516 [GRCh38]
Chr13:111315863 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1417T>G (p.Tyr473Asp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001344311] Chr13:110642521 [GRCh38]
Chr13:111294868 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1061A>G (p.Asp354Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001326983] Chr13:110647233 [GRCh38]
Chr13:111299580 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1138T>C (p.Tyr380His) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001308140] Chr13:110647156 [GRCh38]
Chr13:111299503 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1012G>A (p.Asp338Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001309014] Chr13:110651076 [GRCh38]
Chr13:111303423 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.281A>G (p.Tyr94Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001344378] Chr13:110701550 [GRCh38]
Chr13:111353897 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.126G>C (p.Trp42Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001348000] Chr13:110705968 [GRCh38]
Chr13:111358315 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1676A>G (p.Asp559Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001363762] Chr13:110641556 [GRCh38]
Chr13:111293903 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1168G>C (p.Val390Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001301062] Chr13:110647126 [GRCh38]
Chr13:111299473 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1489dup (p.Val497fs) duplication Combined oxidative phosphorylation defect type 27 [RCV001373285] Chr13:110642448..110642449 [GRCh38]
Chr13:111294795..111294796 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1540C>T (p.Gln514Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001337440] Chr13:110642398 [GRCh38]
Chr13:111294745 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.684C>T (p.Asp228=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001413516] Chr13:110677075 [GRCh38]
Chr13:111329422 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.875T>C (p.Val292Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001366461] Chr13:110667384 [GRCh38]
Chr13:111319731 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.688G>A (p.Ala230Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001368649] Chr13:110677071 [GRCh38]
Chr13:111329418 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.48G>A (p.Gln16=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001367413] Chr13:110706046 [GRCh38]
Chr13:111358393 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1630A>G (p.Ser544Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001314980] Chr13:110641602 [GRCh38]
Chr13:111293949 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.655+6T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001327058] Chr13:110683045 [GRCh38]
Chr13:111335392 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1623+1G>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001307735] Chr13:110642314 [GRCh38]
Chr13:111294661 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.881A>G (p.His294Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001372089] Chr13:110667378 [GRCh38]
Chr13:111319725 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.645C>G (p.Val215=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001412907] Chr13:110683061 [GRCh38]
Chr13:111335408 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1013A>G (p.Asp338Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001298856] Chr13:110651075 [GRCh38]
Chr13:111303422 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1080G>A (p.Met360Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001370494] Chr13:110647214 [GRCh38]
Chr13:111299561 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1054+10G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001487192] Chr13:110651024 [GRCh38]
Chr13:111303371 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1065C>T (p.Tyr355=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001487214] Chr13:110647229 [GRCh38]
Chr13:111299576 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.444G>A (p.Lys148=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001490567] Chr13:110687968 [GRCh38]
Chr13:111340315 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.394-5T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001505876] Chr13:110688023 [GRCh38]
Chr13:111340370 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1296A>G (p.Gly432=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001451443] Chr13:110645988 [GRCh38]
Chr13:111298335 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.224+10G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001405219] Chr13:110705860 [GRCh38]
Chr13:111358207 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1278T>G (p.Leu426=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001430937] Chr13:110646006 [GRCh38]
Chr13:111298353 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1452T>C (p.His484=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001455297] Chr13:110642486 [GRCh38]
Chr13:111294833 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.656-11_656-10del deletion Combined oxidative phosphorylation defect type 27 [RCV001469130] Chr13:110677113..110677114 [GRCh38]
Chr13:111329460..111329461 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1054+41G>A single nucleotide variant not provided [RCV001536331] Chr13:110650993 [GRCh38]
Chr13:111303340 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.656-8A>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001431233] Chr13:110677111 [GRCh38]
Chr13:111329458 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1193+10C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001492859] Chr13:110647091 [GRCh38]
Chr13:111299438 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.624C>T (p.Val208=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001488046] Chr13:110683082 [GRCh38]
Chr13:111335429 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.756C>A (p.Gly252=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001442889] Chr13:110677003 [GRCh38]
Chr13:111329350 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.816T>C (p.His272=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001474818] Chr13:110667443 [GRCh38]
Chr13:111319790 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.225-4C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001471639] Chr13:110705575 [GRCh38]
Chr13:111357922 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.571+26T>G single nucleotide variant not provided [RCV001536994] Chr13:110687695 [GRCh38]
Chr13:111340042 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.276-14dup duplication Combined oxidative phosphorylation defect type 27 [RCV001411787] Chr13:110701562..110701563 [GRCh38]
Chr13:111353909..111353910 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1659G>A (p.Leu553=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001446047] Chr13:110641573 [GRCh38]
Chr13:111293920 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.99G>T (p.Ala33=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001446192] Chr13:110705995 [GRCh38]
Chr13:111358342 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.786-125T>C single nucleotide variant not provided [RCV001537225] Chr13:110667598 [GRCh38]
Chr13:111319945 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1509C>T (p.Ala503=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001419998] Chr13:110642429 [GRCh38]
Chr13:111294776 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.582C>T (p.Tyr194=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001398019] Chr13:110683124 [GRCh38]
Chr13:111335471 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.987+203T>C single nucleotide variant not provided [RCV001541187] Chr13:110663248 [GRCh38]
Chr13:111315595 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1055-7T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001430965] Chr13:110647246 [GRCh38]
Chr13:111299593 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.123C>T (p.Ala41=) single nucleotide variant not provided [RCV001532736] Chr13:110705971 [GRCh38]
Chr13:111358318 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1605C>T (p.Ala535=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001398085] Chr13:110642333 [GRCh38]
Chr13:111294680 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.270T>C (p.His90=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001403556] Chr13:110705526 [GRCh38]
Chr13:111357873 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1194-7C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001444534] Chr13:110646097 [GRCh38]
Chr13:111298444 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1596C>T (p.Gly532=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001434664] Chr13:110642342 [GRCh38]
Chr13:111294689 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.*54G>C single nucleotide variant not provided [RCV001534051] Chr13:110641483 [GRCh38]
Chr13:111293830 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1524G>A (p.Thr508=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001393591] Chr13:110642414 [GRCh38]
Chr13:111294761 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1476G>A (p.Arg492=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001426766] Chr13:110642462 [GRCh38]
Chr13:111294809 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1224G>A (p.Ala408=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001411114] Chr13:110646060 [GRCh38]
Chr13:111298407 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.394-9C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001429332] Chr13:110688027 [GRCh38]
Chr13:111340374 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.785+107C>A single nucleotide variant not provided [RCV001535091] Chr13:110676867 [GRCh38]
Chr13:111329214 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1416+10A>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001445783] Chr13:110644375 [GRCh38]
Chr13:111296722 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1071C>T (p.Asp357=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001406515] Chr13:110647223 [GRCh38]
Chr13:111299570 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1417-6C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001445809] Chr13:110642527 [GRCh38]
Chr13:111294874 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1464C>T (p.Asp488=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001457788] Chr13:110642474 [GRCh38]
Chr13:111294821 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.571+299G>C single nucleotide variant not provided [RCV001681596] Chr13:110687422 [GRCh38]
Chr13:111339769 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.702G>A (p.Ala234=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001486192] Chr13:110677057 [GRCh38]
Chr13:111329404 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.753G>A (p.Pro251=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001465320] Chr13:110677006 [GRCh38]
Chr13:111329353 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1194-322C>G single nucleotide variant not provided [RCV001615621] Chr13:110646412 [GRCh38]
Chr13:111298759 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.987+197C>T single nucleotide variant not provided [RCV001651592] Chr13:110663254 [GRCh38]
Chr13:111315601 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1623+59G>A single nucleotide variant not provided [RCV001593488] Chr13:110642256 [GRCh38]
Chr13:111294603 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1055-278_1055-277insTCC insertion not provided [RCV001684576] Chr13:110647516..110647517 [GRCh38]
Chr13:111299863..111299864 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.655+79G>A single nucleotide variant not provided [RCV001651616] Chr13:110682972 [GRCh38]
Chr13:111335319 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.174C>T (p.Leu58=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001455428] Chr13:110705920 [GRCh38]
Chr13:111358267 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.642A>T (p.Pro214=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001477471] Chr13:110683064 [GRCh38]
Chr13:111335411 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.552C>T (p.Asn184=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001504177] Chr13:110687740 [GRCh38]
Chr13:111340087 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.786-258G>C single nucleotide variant not provided [RCV001674793] Chr13:110667731 [GRCh38]
Chr13:111320078 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.276-47T>C single nucleotide variant not provided [RCV001583109] Chr13:110701602 [GRCh38]
Chr13:111353949 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1413A>G (p.Gln471=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001467983] Chr13:110644388 [GRCh38]
Chr13:111296735 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.572-152C>A single nucleotide variant not provided [RCV001616597] Chr13:110683286 [GRCh38]
Chr13:111335633 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1055-227C>T single nucleotide variant not provided [RCV001675245] Chr13:110647466 [GRCh38]
Chr13:111299813 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.1623+9C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001484887] Chr13:110642306 [GRCh38]
Chr13:111294653 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.633C>T (p.Val211=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001451653] Chr13:110683073 [GRCh38]
Chr13:111335420 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.919+8A>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001436471] Chr13:110667332 [GRCh38]
Chr13:111319679 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1218G>A (p.Val406=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001461931] Chr13:110646066 [GRCh38]
Chr13:111298413 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.33C>T (p.Gly11=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001423355] Chr13:110706061 [GRCh38]
Chr13:111358408 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.117G>T (p.Gly39=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001454487] Chr13:110705977 [GRCh38]
Chr13:111358324 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1101C>T (p.Leu367=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001485367] Chr13:110647193 [GRCh38]
Chr13:111299540 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1624-33T>C single nucleotide variant not provided [RCV001536393] Chr13:110641641 [GRCh38]
Chr13:111293988 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.117G>A (p.Gly39=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001435454] Chr13:110705977 [GRCh38]
Chr13:111358324 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.141C>T (p.Gly47=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001482546] Chr13:110705953 [GRCh38]
Chr13:111358300 [GRCh37]
Chr13:13q34
likely benign
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_024537.4(CARS2):c.1646C>T (p.Thr549Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001868455]|not provided [RCV001756877] Chr13:110641586 [GRCh38]
Chr13:111293933 [GRCh37]
Chr13:13q34
uncertain significance
Single allele deletion Factor X deficiency [RCV001818108] Chr13:109179481..114327244 [GRCh38]
Chr13:13q33.3-34
pathogenic
NM_024537.4(CARS2):c.358G>A (p.Asp120Asn) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001863700] Chr13:110701473 [GRCh38]
Chr13:111353820 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.232T>C (p.Cys78Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001896200] Chr13:110705564 [GRCh38]
Chr13:111357911 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.119G>C (p.Arg40Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002009413] Chr13:110705975 [GRCh38]
Chr13:111358322 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.170G>C (p.Ser57Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001985919] Chr13:110705924 [GRCh38]
Chr13:111358271 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.781G>A (p.Ala261Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001950616] Chr13:110676978 [GRCh38]
Chr13:111329325 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1504C>A (p.Leu502Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001908621] Chr13:110642434 [GRCh38]
Chr13:111294781 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111340048)_(111358440_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV002004665] Chr13:111340048..111358440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.466-1G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002025049] Chr13:110687827 [GRCh38]
Chr13:111340174 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.27C>T (p.Gly9=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001948601] Chr13:110706067 [GRCh38]
Chr13:111358414 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.394-10C>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001892839] Chr13:110688028 [GRCh38]
Chr13:111340375 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001967219] Chr13:110642347 [GRCh38]
Chr13:111294694 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34
pathogenic
NM_024537.4(CARS2):c.98C>T (p.Ala33Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002005268] Chr13:110705996 [GRCh38]
Chr13:111358343 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.656-16C>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001909223] Chr13:110677119 [GRCh38]
Chr13:111329466 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q33.2-34(chr13:106056749-115107733) copy number loss not specified [RCV002053083] Chr13:106056749..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
NM_024537.4(CARS2):c.1685C>G (p.Ser562Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001912224] Chr13:110641547 [GRCh38]
Chr13:111293894 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.700del (p.Ala234fs) deletion Combined oxidative phosphorylation defect type 27 [RCV001911928] Chr13:110677059 [GRCh38]
Chr13:111329406 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34
pathogenic
GRCh37/hg19 13q33.2-34(chr13:106450862-115107733) copy number loss not specified [RCV002053084] Chr13:106450862..115107733 [GRCh37]
Chr13:13q33.2-34
pathogenic
NM_024537.4(CARS2):c.1038del (p.Ser347fs) deletion Combined oxidative phosphorylation defect type 27 [RCV001890521] Chr13:110651050 [GRCh38]
Chr13:111303397 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.888C>A (p.Cys296Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001968772] Chr13:110667371 [GRCh38]
Chr13:111319718 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.393+1G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002003508] Chr13:110701437 [GRCh38]
Chr13:111353784 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_024537.4(CARS2):c.1588C>T (p.Arg530Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001914287] Chr13:110642350 [GRCh38]
Chr13:111294697 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34
pathogenic
NM_024537.4(CARS2):c.446A>G (p.Gln149Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001928228] Chr13:110687966 [GRCh38]
Chr13:111340313 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.886T>G (p.Cys296Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001985314] Chr13:110667373 [GRCh38]
Chr13:111319720 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_024537.4(CARS2):c.1624-1_1624inv inversion Combined oxidative phosphorylation defect type 27 [RCV001908491] Chr13:110641608..110641609 [GRCh38]
Chr13:111293955..111293956 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111268022)_(111358440_?)del deletion Combined oxidative phosphorylation defect type 27 [RCV002004980] Chr13:111268022..111358440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.115G>T (p.Gly39Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001983964] Chr13:110705979 [GRCh38]
Chr13:111358326 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.645C>T (p.Val215=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001927601] Chr13:110683061 [GRCh38]
Chr13:111335408 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.282T>A (p.Tyr94Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001986374] Chr13:110701549 [GRCh38]
Chr13:111353896 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.29T>C (p.Leu10Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001913529] Chr13:110706065 [GRCh38]
Chr13:111358412 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111268022)_(111329470_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV001911999] Chr13:111268022..111329470 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1442C>T (p.Ala481Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001872677] Chr13:110642496 [GRCh38]
Chr13:111294843 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q32.3-34(chr13:100258328-115107733) copy number loss not specified [RCV002053077] Chr13:100258328..115107733 [GRCh37]
Chr13:13q32.3-34
pathogenic
GRCh37/hg19 13q33.1-34(chr13:104545892-115107733) copy number loss not specified [RCV002053082] Chr13:104545892..115107733 [GRCh37]
Chr13:13q33.1-34
pathogenic
NM_024537.4(CARS2):c.12_33dup (p.Pro12fs) duplication Combined oxidative phosphorylation defect type 27 [RCV002042884] Chr13:110706060..110706061 [GRCh38]
Chr13:111358407..111358408 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.302G>T (p.Arg101Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002020415] Chr13:110701529 [GRCh38]
Chr13:111353876 [GRCh37]
Chr13:13q34
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
NM_024537.4(CARS2):c.788T>C (p.Met263Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001894277] Chr13:110667471 [GRCh38]
Chr13:111319818 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.991T>G (p.Phe331Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002006818] Chr13:110651097 [GRCh38]
Chr13:111303444 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1492C>T (p.Arg498Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001955662] Chr13:110642446 [GRCh38]
Chr13:111294793 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1040_1041delinsTT (p.Ser347Ile) indel Combined oxidative phosphorylation defect type 27 [RCV002000418] Chr13:110651047..110651048 [GRCh38]
Chr13:111303394..111303395 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1308_1317+5del deletion Combined oxidative phosphorylation defect type 27 [RCV002017753] Chr13:110645962..110645976 [GRCh38]
Chr13:111298309..111298323 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1692_1693insGG (p.Ter565GlyextTer?) insertion Combined oxidative phosphorylation defect type 27 [RCV001961737] Chr13:110641539..110641540 [GRCh38]
Chr13:111293886..111293887 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1486_1497del (p.Lys496_Gln499del) deletion Combined oxidative phosphorylation defect type 27 [RCV002032905] Chr13:110642441..110642452 [GRCh38]
Chr13:111294788..111294799 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.845A>G (p.His282Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001888470] Chr13:110667414 [GRCh38]
Chr13:111319761 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1623+3G>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001937210] Chr13:110642312 [GRCh38]
Chr13:111294659 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1318-8T>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002033365] Chr13:110644491 [GRCh38]
Chr13:111296838 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.301C>T (p.Arg101Ter) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001963488] Chr13:110701530 [GRCh38]
Chr13:111353877 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.383G>C (p.Arg128Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002047515] Chr13:110701448 [GRCh38]
Chr13:111353795 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.575A>G (p.Asn192Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001942936] Chr13:110683131 [GRCh38]
Chr13:111335478 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1007C>T (p.Ser336Phe) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002035943] Chr13:110651081 [GRCh38]
Chr13:111303428 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.394A>G (p.Met132Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001996864] Chr13:110688018 [GRCh38]
Chr13:111340365 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.3G>T (p.Met1Ile) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001940245] Chr13:110706091 [GRCh38]
Chr13:111358438 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1059C>G (p.Ile353Met) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001902946] Chr13:110647235 [GRCh38]
Chr13:111299582 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111315778)_(111315885_?)del deletion Combined oxidative phosphorylation defect type 27 [RCV001919089] Chr13:111315778..111315885 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.988-11C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001992108] Chr13:110651111 [GRCh38]
Chr13:111303458 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.781G>T (p.Ala261Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001977345] Chr13:110676978 [GRCh38]
Chr13:111329325 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.393+5G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001932419] Chr13:110701433 [GRCh38]
Chr13:111353780 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1598T>C (p.Leu533Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001899179] Chr13:110642340 [GRCh38]
Chr13:111294687 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.107G>C (p.Gly36Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001931347] Chr13:110705987 [GRCh38]
Chr13:111358334 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.224+5G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001972997] Chr13:110705865 [GRCh38]
Chr13:111358212 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1048C>T (p.Arg350Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002028399] Chr13:110651040 [GRCh38]
Chr13:111303387 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.641C>T (p.Pro214Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001902587] Chr13:110683065 [GRCh38]
Chr13:111335412 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.655G>C (p.Ala219Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001904407] Chr13:110683051 [GRCh38]
Chr13:111335398 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.961T>G (p.Ser321Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001915859] Chr13:110663477 [GRCh38]
Chr13:111315824 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.112C>T (p.Arg38Cys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001878219] Chr13:110705982 [GRCh38]
Chr13:111358329 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.937G>A (p.Gly313Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001957422] Chr13:110663501 [GRCh38]
Chr13:111315848 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.573C>T (p.Gly191=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002014078] Chr13:110683133 [GRCh38]
Chr13:111335480 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1568T>C (p.Leu523Pro) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001977623] Chr13:110642370 [GRCh38]
Chr13:111294717 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1193+12G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001958631] Chr13:110647089 [GRCh38]
Chr13:111299436 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.566C>T (p.Ala189Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001900821] Chr13:110687726 [GRCh38]
Chr13:111340073 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1352G>A (p.Gly451Asp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002031222] Chr13:110644449 [GRCh38]
Chr13:111296796 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111293884)_(111358440_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV001992894] Chr13:111293884..111358440 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1457_1473dup (p.Arg492fs) duplication Combined oxidative phosphorylation defect type 27 [RCV001952323] Chr13:110642464..110642465 [GRCh38]
Chr13:111294811..111294812 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1570G>A (p.Glu524Lys) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001876854] Chr13:110642368 [GRCh38]
Chr13:111294715 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.442A>G (p.Lys148Glu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001980337] Chr13:110687970 [GRCh38]
Chr13:111340317 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.509C>T (p.Pro170Leu) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001899924] Chr13:110687783 [GRCh38]
Chr13:111340130 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.976A>G (p.Ile326Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001977352] Chr13:110663462 [GRCh38]
Chr13:111315809 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1332G>A (p.Pro444=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001939499] Chr13:110644469 [GRCh38]
Chr13:111296816 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1688C>T (p.Ala563Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001976361] Chr13:110641544 [GRCh38]
Chr13:111293891 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1502C>T (p.Ala501Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001954489] Chr13:110642436 [GRCh38]
Chr13:111294783 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1405G>A (p.Ala469Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001883599] Chr13:110644396 [GRCh38]
Chr13:111296743 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1634G>C (p.Ser545Thr) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001937987] Chr13:110641598 [GRCh38]
Chr13:111293945 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1227dup (p.Ala411fs) duplication Combined oxidative phosphorylation defect type 27 [RCV001905154] Chr13:110646056..110646057 [GRCh38]
Chr13:111298403..111298404 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1692C>G (p.Gly564=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001920196] Chr13:110641540 [GRCh38]
Chr13:111293887 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1313T>G (p.Leu438Arg) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001924550] Chr13:110645971 [GRCh38]
Chr13:111298318 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1534C>T (p.Arg512Trp) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001926074] Chr13:110642404 [GRCh38]
Chr13:111294751 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.571+5G>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001924405] Chr13:110687716 [GRCh38]
Chr13:111340063 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.323T>C (p.Phe108Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001925057] Chr13:110701508 [GRCh38]
Chr13:111353855 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1648T>G (p.Trp550Gly) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002026342] Chr13:110641584 [GRCh38]
Chr13:111293931 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.987+5C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002047161] Chr13:110663446 [GRCh38]
Chr13:111315793 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_110802675)_(111827168_?)dup duplication Combined oxidative phosphorylation defect type 27 [RCV001993019] Chr13:110802675..111827168 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.451A>G (p.Met151Val) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002031101] Chr13:110687961 [GRCh38]
Chr13:111340308 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.742C>G (p.Pro248Ala) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002017002] Chr13:110677017 [GRCh38]
Chr13:111329364 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_111353765)_(111353922_?)del deletion Combined oxidative phosphorylation defect type 27 [RCV001923236] Chr13:111353765..111353922 [GRCh37]
Chr13:13q34
uncertain significance
NC_000013.10:g.(?_110802675)_(111358440_?)del deletion not provided [RCV001956138] Chr13:110802675..111358440 [GRCh37]
Chr13:13q34
pathogenic
NM_024537.4(CARS2):c.1561C>T (p.Pro521Ser) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV001957171] Chr13:110642377 [GRCh38]
Chr13:111294724 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.1317+11G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002169728] Chr13:110645956 [GRCh38]
Chr13:111298303 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.617A>C (p.Lys206Thr) single nucleotide variant not provided [RCV002210997] Chr13:110683089 [GRCh38]
Chr13:111335436 [GRCh37]
Chr13:13q34
uncertain significance
NM_024537.4(CARS2):c.57G>A (p.Leu19=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002130102] Chr13:110706037 [GRCh38]
Chr13:111358384 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.394-17A>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002146732] Chr13:110688035 [GRCh38]
Chr13:111340382 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1356C>T (p.Ala452=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002208893] Chr13:110644445 [GRCh38]
Chr13:111296792 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.687C>T (p.Phe229=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002207141] Chr13:110677072 [GRCh38]
Chr13:111329419 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.819A>G (p.Ser273=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002088885] Chr13:110667440 [GRCh38]
Chr13:111319787 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.198C>A (p.Ile66=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002166705] Chr13:110705896 [GRCh38]
Chr13:111358243 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.656-16C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002107567] Chr13:110677119 [GRCh38]
Chr13:111329466 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1417-16G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002191510] Chr13:110642537 [GRCh38]
Chr13:111294884 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.786-16G>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002209871] Chr13:110667489 [GRCh38]
Chr13:111319836 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1446C>G (p.Thr482=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002073470] Chr13:110642492 [GRCh38]
Chr13:111294839 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.144G>A (p.Arg48=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002091521] Chr13:110705950 [GRCh38]
Chr13:111358297 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1581C>T (p.Asp527=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002111669] Chr13:110642357 [GRCh38]
Chr13:111294704 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1530C>T (p.Asp510=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002168291] Chr13:110642408 [GRCh38]
Chr13:111294755 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1515C>T (p.Pro505=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002204914] Chr13:110642423 [GRCh38]
Chr13:111294770 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.571+12G>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002146345] Chr13:110687709 [GRCh38]
Chr13:111340056 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.987+7T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002205833] Chr13:110663444 [GRCh38]
Chr13:111315791 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.867G>A (p.Gln289=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002145320] Chr13:110667392 [GRCh38]
Chr13:111319739 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.466-12A>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002125729] Chr13:110687838 [GRCh38]
Chr13:111340185 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.786-6T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002186709] Chr13:110667479 [GRCh38]
Chr13:111319826 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.798A>G (p.Gly266=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002174760] Chr13:110667461 [GRCh38]
Chr13:111319808 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.919+7A>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002216139] Chr13:110667333 [GRCh38]
Chr13:111319680 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.765C>A (p.Ile255=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002079224] Chr13:110676994 [GRCh38]
Chr13:111329341 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1055-11_1055-10del deletion Combined oxidative phosphorylation defect type 27 [RCV002212696] Chr13:110647249..110647250 [GRCh38]
Chr13:111299596..111299597 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.537C>T (p.Ile179=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002174808] Chr13:110687755 [GRCh38]
Chr13:111340102 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1623+12A>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002149611] Chr13:110642303 [GRCh38]
Chr13:111294650 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1417-19C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002151538] Chr13:110642540 [GRCh38]
Chr13:111294887 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1417-11G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002151411] Chr13:110642532 [GRCh38]
Chr13:111294879 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1575A>G (p.Ala525=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002115344] Chr13:110642363 [GRCh38]
Chr13:111294710 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.465+12G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002113082] Chr13:110687935 [GRCh38]
Chr13:111340282 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1054+16G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002088721] Chr13:110651018 [GRCh38]
Chr13:111303365 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.660C>T (p.Asp220=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002071094] Chr13:110677099 [GRCh38]
Chr13:111329446 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.656-17C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002109523] Chr13:110677120 [GRCh38]
Chr13:111329467 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1624-10T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002192922] Chr13:110641618 [GRCh38]
Chr13:111293965 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.465+16G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002074800] Chr13:110687931 [GRCh38]
Chr13:111340278 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.465+17G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002078344] Chr13:110687930 [GRCh38]
Chr13:111340277 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1485G>A (p.Gln495=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002171352] Chr13:110642453 [GRCh38]
Chr13:111294800 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.572-15T>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002165090] Chr13:110683149 [GRCh38]
Chr13:111335496 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1206C>T (p.Thr402=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002203130] Chr13:110646078 [GRCh38]
Chr13:111298425 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.656-20G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002154086] Chr13:110677123 [GRCh38]
Chr13:111329470 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.571+20T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002159832] Chr13:110687701 [GRCh38]
Chr13:111340048 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.987+20G>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002121820] Chr13:110663431 [GRCh38]
Chr13:111315778 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1193+11C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002120950] Chr13:110647090 [GRCh38]
Chr13:111299437 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.225-19A>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002103302] Chr13:110705590 [GRCh38]
Chr13:111357937 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.393+15G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002081276] Chr13:110701423 [GRCh38]
Chr13:111353770 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.785+15G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002083663] Chr13:110676959 [GRCh38]
Chr13:111329306 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.920-8del deletion Combined oxidative phosphorylation defect type 27 [RCV002081577] Chr13:110663526 [GRCh38]
Chr13:111315873 [GRCh37]
Chr13:13q34
benign
NM_024537.4(CARS2):c.988-17G>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002084221] Chr13:110651117 [GRCh38]
Chr13:111303464 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.656-12T>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002118677] Chr13:110677115 [GRCh38]
Chr13:111329462 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1624-9C>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002099714] Chr13:110641617 [GRCh38]
Chr13:111293964 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.988-8T>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002182388] Chr13:110651108 [GRCh38]
Chr13:111303455 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.765C>T (p.Ile255=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002182666] Chr13:110676994 [GRCh38]
Chr13:111329341 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.988-13C>G single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002175785] Chr13:110651113 [GRCh38]
Chr13:111303460 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.579C>T (p.Val193=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002098420] Chr13:110683127 [GRCh38]
Chr13:111335474 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.655+12G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002142922] Chr13:110683039 [GRCh38]
Chr13:111335386 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.127C>T (p.Leu43=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002182998] Chr13:110705967 [GRCh38]
Chr13:111358314 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1318-17G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002120738] Chr13:110644500 [GRCh38]
Chr13:111296847 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1054+18G>A single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002178732] Chr13:110651016 [GRCh38]
Chr13:111303363 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1193+16A>C single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002097772] Chr13:110647085 [GRCh38]
Chr13:111299432 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.1635T>C (p.Ser545=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002183417] Chr13:110641597 [GRCh38]
Chr13:111293944 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.564G>C (p.Thr188=) single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002158633] Chr13:110687728 [GRCh38]
Chr13:111340075 [GRCh37]
Chr13:13q34
likely benign
NM_024537.4(CARS2):c.465+20G>T single nucleotide variant Combined oxidative phosphorylation defect type 27 [RCV002142757] Chr13:110687927 [GRCh38]
Chr13:111340274 [GRCh37]
Chr13:13q34
likely benign