Total 23 pathogenic variants reported for Combined oxidative phosphorylation defect type 27 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) SNV
Germline		 Chr13:110683051 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA210625 rs_727505361

5 SubmittersRCV000156934RCV000494053
NM_024537.4(CARS2):c.2T>C (p.Met1Thr) SNV
Germline		 Chr13:110706092 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 27		 Criteria Provided
Conflicting Classifications
 CA7052409 rs_774110184

2 SubmittersRCV000255570RCV001340732
NM_024537.4(CARS2):c.574A>G (p.Asn192Asp) SNV
Germline		 Chr13:110683132 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7052158 rs_150286306

2 SubmittersRCV000560417RCV000624612
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) SNV
Germline		 Chr13:110701529 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Condition: not provided
CARS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA7052313 rs_112070421

4 SubmittersRCV000553087RCV001566887RCV003935538
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) SNV
Germline		 Chr13:110641600 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Condition: not provided
not specified
CARS2-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA7051567 rs_141184379

6 SubmittersRCV000524838RCV001584347RCV003403336RCV003925718RCV004024338
NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln) SNV
Germline		 Chr13:110642403 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
CARS2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7051614 rs_200491395

3 SubmittersRCV000652713RCV003953200RCV004817847
NM_024537.4(CARS2):c.244G>A (p.Val82Ile) SNV
Germline		 Chr13:110705552 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA7052336 rs_117788141

4 SubmittersRCV000652709RCV001592823RCV003994066
NM_024537.4(CARS2):c.1075G>A (p.Ala359Thr) SNV
Germline		 Chr13:110647219 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_570568500

2 SubmittersRCV000806043RCV004028230
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) SNV
Germline		 Chr13:110642490 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_766266851

3 SubmittersRCV000949193RCV001772172
NM_024537.4(CARS2):c.136A>G (p.Thr46Ala) SNV
Germline		 Chr13:110705958 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_771202761

3 SubmittersRCV000907615RCV003169274RCV004028579
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser) SNV
Germline		 Chr13:110642506 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_372734645

3 SubmittersRCV001067493RCV004030651
NM_024537.4(CARS2):c.323T>G (p.Phe108Cys) SNV
Germline		 Chr13:110701508 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
See cases		 Criteria Provided
Conflicting Classifications
 rs_201577762

3 SubmittersRCV001209460RCV003232231
NM_024537.4(CARS2):c.1426G>T (p.Gly476Ter) SNV
Germline		 Chr13:110642512 Likely pathogenic Combined oxidative phosphorylation defect type 27 Criteria Provided
Single Submitter
 rs_1887501594

1 SubmittersRCV001249205
NM_024537.4(CARS2):c.1566G>A (p.Leu522=) SNV
Germline		 Chr13:110642372 Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27
CARS2-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_377120724

3 SubmittersRCV001397524RCV003920873RCV004719161
NM_024537.4(CARS2):c.1084C>T (p.Gln362Ter) SNV
Germline		 Chr13:110647210 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 27		 Criteria Provided
Conflicting Classifications
 rs_1439475292

2 SubmittersRCV001555782RCV002032613
NM_024537.4(CARS2):c.125G>C (p.Trp42Ser) SNV
Germline		 Chr13:110705969 Conflicting classifications of pathogenicity Condition: not provided
Combined oxidative phosphorylation defect type 27		 Criteria Provided
Conflicting Classifications
 rs_779385700

3 SubmittersRCV001586313RCV002072309