A total 76 pathogenic variants reported in gene solute carrier family 25 member 38 (SLC25A38)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter) SNV
Germline
Chr3:39391513 Pathogenic Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA114771 rs_121918330

4 SubmittersRCV000001177RCV000760470

NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro) SNV
Germline
Chr3:39391956 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA114773 rs_121918331

4 SubmittersRCV000001179RCV002512636

NM_017875.4(SLC25A38):c.277-1G>A SNV
Germline
Chr3:39391440 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352454 rs_869312029

2 SubmittersRCV000001180

NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter) SNV
Germline
Chr3:39394574 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA114774 rs_121918332

2 SubmittersRCV000001181

NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) SNV
Germline
Chr3:39390470 Conflicting classifications of pathogenicity Sideroblastic anemia 2
not specified
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA2327393 rs_144149294

6 SubmittersRCV000330775RCV000425850RCV000968454RCV002523257

NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) SNV
Germline
Chr3:39383736 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327308 rs_142420345

4 SubmittersRCV000302431RCV001718735

NM_017875.4(SLC25A38):c.*431G>A SNV
Germline
Chr3:39396951 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10618456 rs_73058292

2 SubmittersRCV000285639RCV001786375

NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) SNV
Germline
Chr3:39391452 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327421 rs_765578993

2 SubmittersRCV000290838RCV001861217

NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) SNV
Germline
Chr3:39391858 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327474 rs_369980078

3 SubmittersRCV000302332RCV001718736

NM_017875.4(SLC25A38):c.166C>T (p.Gln56Ter) SNV
Germline
Chr3:39389591 Pathogenic Condition: not provided
Sideroblastic anemia 2
Criteria Provided
Single Submitter
CA16042496 rs_866266558

2 SubmittersRCV000413840RCV005431651

NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) SNV
Germline
Chr3:39391921 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327491 rs_149992222

4 SubmittersRCV001146840RCV001720124

NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) SNV
Germline
Chr3:39391882 Conflicting classifications of pathogenicity not specified
Condition: not provided
Sideroblastic anemia 2
SLC25A38-related disorder
Criteria Provided
Conflicting Classifications
CA2327480 rs_531290475

5 SubmittersRCV000604002RCV000923430RCV001144865RCV004543412

NM_017875.4(SLC25A38):c.70-2A>C SNV
Germline
Chr3:39389493 Pathogenic Sideroblastic anemia 2 Criteria Provided
Multiple Submitters
No Conflicts
CA352198515 rs_1233124208

2 SubmittersRCV000680098

NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) SNV
Germline
Chr3:39391564 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352201196 rs_1293528130

1 SubmittersRCV000778697

NM_017875.4(SLC25A38):c.625G>C (p.Asp209His) SNV
Germline
Chr3:39392021 Pathogenic/Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Multiple Submitters
No Conflicts
CA2327506 rs_146864395

2 SubmittersRCV000778698

NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) SNV
Germline
Chr3:39383735 Conflicting classifications of pathogenicity Condition: not provided
Sideroblastic anemia 2
Criteria Provided
Conflicting Classifications
CA2327307 rs_61995897

4 SubmittersRCV000958527RCV001150972

NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) SNV
Germline
Chr3:39394564 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327544 rs_763845960

2 SubmittersRCV001146844RCV003769703

NM_017875.4(SLC25A38):c.456+10A>G SNV
Germline
Chr3:39391630 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327453 rs_368989667

2 SubmittersRCV001144864RCV002559398

NM_017875.4(SLC25A38):c.626-5T>C SNV
Germline
Chr3:39394405 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327523 rs_767154505

2 SubmittersRCV001146843RCV003727912

NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys) SNV
Germline
Chr3:39389591 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352199018 rs_866266558

1 SubmittersRCV001526380

NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter) SNV
Germline
Chr3:39389600 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352199083 rs_2125577893

1 SubmittersRCV001526363

NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter) SNV
Germline
Chr3:39390491 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352199805 rs_2125578710

1 SubmittersRCV001526373

NM_017875.4(SLC25A38):c.276+1G>A SNV
Germline
Chr3:39390508 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352199986 rs_2125578753

1 SubmittersRCV001526348

NM_017875.4(SLC25A38):c.276+1G>T SNV
Germline
Chr3:39390508 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352199989 rs_2125578753

1 SubmittersRCV001526378

NM_017875.4(SLC25A38):c.277-2A>C SNV
Germline
Chr3:39391439 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352200164 rs_1198314410

1 SubmittersRCV001526349

NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn) SNV
Germline
Chr3:39391445 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352200215 rs_762067787

1 SubmittersRCV001526370

NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu) SNV
Germline
Chr3:39391469 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352200377 rs_2125579714

1 SubmittersRCV001526357

NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg) SNV
Germline
Chr3:39391552 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352201065 rs_2125579946

1 SubmittersRCV001526351

NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu) SNV
Germline
Chr3:39391553 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA73039078 rs_762562272

1 SubmittersRCV001526366

NM_017875.4(SLC25A38):c.401G>A (p.Arg134His) SNV
Germline
Chr3:39391565 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352201218 rs_2041767822

1 SubmittersRCV001526362

NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn) SNV
Germline
Chr3:39391604 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352201510 rs_2041768572

1 SubmittersRCV001526381

NM_017875.4(SLC25A38):c.457-1G>T SNV
Germline
Chr3:39391852 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352202837 rs_1448237170

1 SubmittersRCV001526352

NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg) SNV
Germline
Chr3:39391865 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352202935 rs_772425489

1 SubmittersRCV001526371

NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln) SNV
Germline
Chr3:39391956 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA352203585 rs_121918331

2 SubmittersRCV001526360RCV003558832

NM_017875.4(SLC25A38):c.562G>C (p.Asp188His) SNV
Germline
Chr3:39391958 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352203595 rs_2125580560

1 SubmittersRCV001526384

NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg) SNV
Germline
Chr3:39391965 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA352203641 rs_2125580580

2 SubmittersRCV001526367RCV005094713

NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro) SNV
Germline
Chr3:39391983 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352203792 rs_2125580600

1 SubmittersRCV001526382

NM_017875.4(SLC25A38):c.626-2A>T SNV
Germline
Chr3:39394408 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352204340 rs_2125582750

1 SubmittersRCV001526385

NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val) SNV
Germline
Chr3:39394467 Conflicting classifications of pathogenicity Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Conflicting Classifications
CA2327532 rs_755205622

4 SubmittersRCV001526369RCV001751785

NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro) SNV
Germline
Chr3:39394473 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352205044 rs_2125582841

1 SubmittersRCV001526372

NM_017875.4(SLC25A38):c.792+5G>C SNV
Germline
Chr3:39394581 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA2499216774 rs_2125582986

1 SubmittersRCV001526355

NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly) SNV
Germline
Chr3:39396437 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352207250 rs_147431446

1 SubmittersRCV001526368

NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter) SNV
Germline
Chr3:39396437 Pathogenic/Likely pathogenic Sideroblastic anemia 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA2327564 rs_147431446

4 SubmittersRCV001526364RCV004697134

NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter) SNV
Germline
Chr3:39396484 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352207531 rs_1156987118

1 SubmittersRCV001526379

NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg) SNV
Germline
Chr3:39396518 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352207744 rs_1218815001

1 SubmittersRCV001526358

NM_017875.4(SLC25A38):c.276+1G>C SNV
Germline
Chr3:39390508 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA352199993 rs_2125578753

1 SubmittersRCV001970260

NM_017875.4(SLC25A38):c.454G>T (p.Glu152Ter) SNV
Germline
Chr3:39391618 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA352201660 rs_1416227038

1 SubmittersRCV002853131

NM_017875.4(SLC25A38):c.458G>A (p.Ser153Asn) SNV
Germline
Chr3:39391854 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2327473 rs_139671810

2 SubmittersRCV002928569

NM_017875.4(SLC25A38):c.793-1G>C SNV
Germline
Chr3:39396397 Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352207003 rs_2470562327

1 SubmittersRCV003454384

NM_017875.4(SLC25A38):c.14C>G (p.Ser5Ter) SNV
Germline
Chr3:39383738 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA352196583 rs_1245684154

1 SubmittersRCV003822220

NM_017875.4(SLC25A38):c.275C>G (p.Pro92Arg) SNV
Germline
Chr3:39390506 Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352199981 rs_2470551499

1 SubmittersRCV003990435

NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter) SNV
Unknown
Chr3:39391955 Pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter
CA352203583 rs_1180926625

1 SubmittersRCV004006217

NM_017875.4(SLC25A38):c.448C>T (p.Arg150Cys) SNV
Germline
Chr3:39391612 Likely pathogenic Sideroblastic anemia 2 Criteria Provided
Single Submitter

1 SubmittersRCV005035317