Total 81 pathogenic variants reported for Carnitine acylcarnitine translocase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter) SNV
Germline		 Chr3:48862581 Pathogenic Carnitine acylcarnitine translocase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121914 rs_151340616

6 SubmittersRCV000012918RCV000627246
NM_000387.6(SLC25A20):c.199-10T>G SNV
Germline		 Chr3:48884134 Pathogenic Condition: not provided
Carnitine acylcarnitine translocase deficiency
SLC25A20-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121917 rs_541208710

10 SubmittersRCV000427395RCV000012920RCV004757104
NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg) SNV
Germline		 Chr3:48859097 Pathogenic Carnitine acylcarnitine translocase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA121918 rs_28934589

5 SubmittersRCV000012921RCV000153966
NM_000387.6(SLC25A20):c.576G>A (p.Trp192Ter) SNV
Germline		 Chr3:48859587 Pathogenic Carnitine acylcarnitine translocase deficiency No Assertion Criteria Provided
 CA151163 rs_587777286

1 SubmittersRCV000114402
NM_000387.6(SLC25A20):c.106-2A>T SNV
Germline		 Chr3:48892074 Pathogenic Carnitine acylcarnitine translocase deficiency No Assertion Criteria Provided
 CA151165 rs_587777287

1 SubmittersRCV000114403
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter) SNV
Germline		 Chr3:48898785 Pathogenic/Likely pathogenic Condition: not provided
Carnitine acylcarnitine translocase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA312985 rs_756998699

5 SubmittersRCV000186165RCV000689326
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro) SNV
Germline		 Chr3:48879417 Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2387414 rs_149174359

5 SubmittersRCV000293988RCV000507911RCV003298404
NM_000387.6(SLC25A20):c.292A>T (p.Lys98Ter) SNV
Germline		 Chr3:48884031 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352634302 rs_1553686321

1 SubmittersRCV000532365
NM_000387.6(SLC25A20):c.535+6C>T SNV
Germline		 Chr3:48862536 Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2387377 rs_199770033

3 SubmittersRCV001088755RCV000833906
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter) SNV
Germline		 Chr3:48862545 Pathogenic Condition: not provided
Carnitine acylcarnitine translocase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2387380 rs_778220325

6 SubmittersRCV000657649RCV000780710
NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly) SNV
Germline		 Chr3:48859627 Conflicting classifications of pathogenicity Condition: not provided
Carnitine acylcarnitine translocase deficiency		 Criteria Provided
Conflicting Classifications
 CA352627178 rs_1205051168

3 SubmittersRCV000732514RCV001329229
NM_000387.6(SLC25A20):c.691G>C (p.Asp231His) SNV
Germline		 Chr3:48859119 Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA73980967 rs_577331691

3 SubmittersRCV000801119
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=) SNV
Germline		 Chr3:48857722 Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency
SLC25A20-related disorder		 Criteria Provided
Conflicting Classifications
 CA2387247 rs_766966542

3 SubmittersRCV001151089RCV003898147
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln) SNV
Germline		 Chr3:48858526 Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA2387283 rs_376342597

5 SubmittersRCV001151090
NM_000387.6(SLC25A20):c.719-10T>C SNV
Germline		 Chr3:48858641 Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency Criteria Provided
Conflicting Classifications
 CA73980733 rs_769684089

2 SubmittersRCV001144982
NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg) SNV
Germline		 Chr3:48859152 Conflicting classifications of pathogenicity not specified
Carnitine acylcarnitine translocase deficiency		 Criteria Provided
Conflicting Classifications
 CA352626417 rs_2083603903

3 SubmittersRCV001199861RCV001203963
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp) SNV
Germline		 Chr3:48879378 Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency
SLC25A20-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2387406 rs_748394731

4 SubmittersRCV001199860RCV003945915
NM_000387.6(SLC25A20):c.198+2T>C SNV
Germline		 Chr3:48891978 Likely pathogenic Carnitine acylcarnitine translocase deficiency
SLC25A20-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2387481 rs_147540030

5 SubmittersRCV001204864RCV004757381
NM_000387.6(SLC25A20):c.105+1G>T SNV
Germline		 Chr3:48898689 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA74001822 rs_970037429

3 SubmittersRCV001378280
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys) SNV
Germline		 Chr3:48898713 Conflicting classifications of pathogenicity Condition: not provided
Carnitine acylcarnitine translocase deficiency		 Criteria Provided
Conflicting Classifications
 CA2387519 rs_747335514

6 SubmittersRCV001762807RCV002539863
NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln) SNV
Germline		 Chr3:48862544 Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA2387379 rs_754563147

2 SubmittersRCV002035023
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter) SNV
Germline		 Chr3:48858527 Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA352625833 rs_1330578621

3 SubmittersRCV002302464
NM_000387.6(SLC25A20):c.842C>T (p.Ala281Val) SNV
Germline		 Chr3:48858508 Pathogenic/Likely pathogenic Condition: not provided
Carnitine acylcarnitine translocase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA73980651 rs_953809517

3 SubmittersRCV002306376RCV003512146
NM_000387.6(SLC25A20):c.575G>A (p.Trp192Ter) SNV
Germline		 Chr3:48859588 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352626905 rs_2471005012

1 SubmittersRCV002510392
NM_000387.6(SLC25A20):c.106-2A>G SNV
Germline		 Chr3:48892074 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA2387494 rs_587777287

1 SubmittersRCV002898867
NM_000387.6(SLC25A20):c.241G>A (p.Gly81Arg) SNV
Germline		 Chr3:48884082 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA2387450 rs_778739484

1 SubmittersRCV003388421
NM_000387.6(SLC25A20):c.706C>T (p.Arg236Ter) SNV
Germline		 Chr3:48859104 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA2387316 rs_780959390

2 SubmittersRCV003472837
NM_000387.6(SLC25A20):c.121C>T (p.Gln41Ter) SNV
Unknown		 Chr3:48892057 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352637664 rs_1575992941

1 SubmittersRCV003472838
NM_000387.6(SLC25A20):c.105+2T>G SNV
Germline		 Chr3:48898688 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA352638920 rs_2470617928

2 SubmittersRCV003472840
NM_000387.6(SLC25A20):c.671G>A (p.Trp224Ter) SNV
Unknown		 Chr3:48859139 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352626341 rs_2471004576

1 SubmittersRCV003472844
NM_000387.6(SLC25A20):c.608+1G>A SNV
Unknown		 Chr3:48859554 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352626734 rs_2471004958

1 SubmittersRCV003472847
NM_000387.6(SLC25A20):c.1A>G (p.Met1Val) SNV
Germline		 Chr3:48898794 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA2387535 rs_745490594

1 SubmittersRCV003513474
NM_000387.6(SLC25A20):c.718+1G>C SNV
Germline		 Chr3:48859091 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA2387313 rs_766551395

2 SubmittersRCV003513588
NM_000387.6(SLC25A20):c.326+1G>C SNV
Germline		 Chr3:48883996 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352634037 rs_2083812807

1 SubmittersRCV003511549
NM_000387.6(SLC25A20):c.394G>T (p.Glu132Ter) SNV
Germline		 Chr3:48879381 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA73992035 rs_769748915

1 SubmittersRCV003624597
NM_000387.6(SLC25A20):c.417+1G>A SNV
Germline		 Chr3:48879357 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352632324 rs_2471021109

1 SubmittersRCV003624587
NM_000387.6(SLC25A20):c.415C>T (p.Gln139Ter) SNV
Germline		 Chr3:48879360 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 CA352632350 rs_2471021115

1 SubmittersRCV003623953
NM_000387.6(SLC25A20):c.301C>T (p.Gln101Ter) SNV
Germline		 Chr3:48884022 Pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA2387442 rs_752042051

2 SubmittersRCV003625061
NM_000387.6(SLC25A20):c.109C>T (p.Arg37Ter) SNV
Germline		 Chr3:48892069 Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA2387492 rs_776288377

2 SubmittersRCV003875170
NM_000387.6(SLC25A20):c.608+2T>C SNV
Unknown		 Chr3:48859553 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter
 rs_2083607266

1 SubmittersRCV004573618
NM_000387.6(SLC25A20):c.862G>T (p.Glu288Ter) SNV
Germline		 Chr3:48857754 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005024671
NM_000387.6(SLC25A20):c.418-1G>T SNV
Germline		 Chr3:48862660 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005037087
NM_000387.6(SLC25A20):c.417+2T>A SNV
Germline		 Chr3:48879356 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005024674
NM_000387.6(SLC25A20):c.536-1G>C SNV
Germline		 Chr3:48859628 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005118834
NM_000387.6(SLC25A20):c.689C>G (p.Pro230Arg) SNV
Germline		 Chr3:48859121 Likely pathogenic Carnitine acylcarnitine translocase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005438222