Total 103 pathogenic variants reported for 3-Methylglutaconic aciduria type 2 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000116.5(TAFAZZIN):c.239-1G>A SNV
Germline
ChrX:154413206 Pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
rs_1603377590

1 SubmittersRCV000011849

NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) SNV
Germline
ChrX:154412129 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA255717 rs_104894941

3 SubmittersRCV000011850RCV001091834

NM_000116.5(TAFAZZIN):c.239-1G>C SNV
Germline
ChrX:154413206 Pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
rs_1603377590

1 SubmittersRCV000011851

NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) SNV
Germline
ChrX:154420037 Pathogenic 3-Methylglutaconic aciduria type 2
TAFAZZIN-related disorder
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA255719 rs_132630277

5 SubmittersRCV000011854RCV003226156RCV003333950

NM_000116.5(TAFAZZIN):c.109+5G>C SNV
Germline
ChrX:154411957 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
rs_2148185111

2 SubmittersRCV000011855

NM_000116.5(TAFAZZIN):c.284+110G>A SNV
Germline
ChrX:154413362 Pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
rs_1603377747

1 SubmittersRCV000011856

NM_000116.5(TAFAZZIN):c.110-2A>G SNV
Germline
ChrX:154412084 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
rs_1603376833

3 SubmittersRCV000011858

NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) SNV
Germline
ChrX:154413248 Pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
CA255721 rs_104894942

1 SubmittersRCV000011859

NM_000116.5(TAFAZZIN):c.647-1G>C SNV
Germline
ChrX:154420211 Pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
CA255722 rs_587776741

1 SubmittersRCV000011861

NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) SNV
Germline
ChrX:154420676 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA260077 rs_387907218

5 SubmittersRCV000029171RCV000283338

NM_000116.5(TAFAZZIN):c.110-17= SNV
Germline
ChrX:154412069 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA260555 rs_62617809

6 SubmittersRCV000030474RCV000245792RCV001682716

NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter) SNV
Germline
ChrX:154412184 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
CA261278 rs_397515738

1 SubmittersRCV000035087

NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) SNV
Germline
ChrX:154413525 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2 Criteria Provided
Conflicting Classifications
CA261280 rs_397515739

2 SubmittersRCV000035088

NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg) SNV
Germline
ChrX:154413504 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
CA261282 rs_397515740

1 SubmittersRCV000035089

NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) SNV
Germline
ChrX:154413507 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
CA261284 rs_397515741

1 SubmittersRCV000035090

NM_000116.5(TAFAZZIN):c.371-13C>G SNV
Germline
ChrX:154414088 Conflicting classifications of pathogenicity not specified
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA131103 rs_397515742

2 SubmittersRCV000035091RCV002513349

NM_000116.5(TAFAZZIN):c.584-7T>C SNV
Germline
ChrX:154420025 Conflicting classifications of pathogenicity not specified
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA131109 rs_397515745

2 SubmittersRCV000035096RCV002513350

NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) SNV
Germline
ChrX:154420038 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2 Criteria Provided
Conflicting Classifications
CA261286 rs_397515746

3 SubmittersRCV000035097

NM_000116.5(TAFAZZIN):c.700-1G>A SNV
Germline
ChrX:154420657 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
CA261288 rs_397515747

1 SubmittersRCV000035098

NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) SNV
Germline
ChrX:154420948 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA261290 rs_397515750

3 SubmittersRCV000035102RCV003236772

NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) SNV
Germline
ChrX:154413528 Conflicting classifications of pathogenicity not specified
3-Methylglutaconic aciduria type 2
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA178074 rs_200405157

4 SubmittersRCV000151966RCV000705533RCV001719939RCV002460933

NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) SNV
Germline
ChrX:154413544 Conflicting classifications of pathogenicity Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA273476 rs_727504327

4 SubmittersRCV000154422RCV002470779

NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) SNV
Germline
ChrX:154420212 Likely pathogenic Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Criteria Provided
Single Submitter
CA273540 rs_727504431

1 SubmittersRCV000154666

NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) SNV
Germline
ChrX:154412206 Conflicting classifications of pathogenicity Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA308812 rs_794729173

2 SubmittersRCV000183914RCV003621512

NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys) SNV
Germline
ChrX:154413248 Pathogenic/Likely pathogenic Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA308799 rs_104894942

3 SubmittersRCV000183907RCV002516936

NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) SNV
Germline
ChrX:154419745 Pathogenic Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA308801 rs_794729167

2 SubmittersRCV000183908RCV003512022

NM_000116.5(TAFAZZIN):c.700-5C>T SNV
Germline
ChrX:154420653 Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA079285 rs_782731479

2 SubmittersRCV000208291RCV000927936

NM_000116.5(TAFAZZIN):c.461-2A>G SNV
Germline
ChrX:154419541 Pathogenic Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA10577646 rs_876661038

2 SubmittersRCV000216671RCV003236791

NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) SNV
Germline
ChrX:154420716 Conflicting classifications of pathogenicity Condition: not provided
3-Methylglutaconic aciduria type 2
Cardiomyopathy
Criteria Provided
Conflicting Classifications
CA10562431 rs_782653725

3 SubmittersRCV000216620RCV000695963RCV000769551

NM_000116.5(TAFAZZIN):c.778-2A>G SNV
Germline
ChrX:154420901 Likely pathogenic Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA10577661 rs_876661112

2 SubmittersRCV000216377RCV003236792

NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg) SNV
Germline
ChrX:154412203 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
CA10583938 rs_878853654

1 SubmittersRCV000230434

NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) SNV
Germline
ChrX:154419586 Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy
Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Endocardial fibroelastosis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10653864 rs_1057515818

3 SubmittersRCV000307696RCV000350806RCV000395947RCV000402701RCV000841319

NM_000116.5(TAFAZZIN):c.110-6C>T SNV
Germline
ChrX:154412080 Conflicting classifications of pathogenicity Cardiomyopathy
Condition: not provided
3-Methylglutaconic aciduria type 2
not specified
Criteria Provided
Conflicting Classifications
CA10562279 rs_782099193

5 SubmittersRCV000770594RCV000950984RCV001425159RCV001726169

NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) SNV
Germline
ChrX:154413249 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
CA16616656 rs_1060500044

2 SubmittersRCV000471301

NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) SNV
Germline
ChrX:154420094 Pathogenic/Likely pathogenic Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA415184463 rs_1085307797

5 SubmittersRCV000489828RCV000816124

NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) SNV
Germline
ChrX:154420915 Conflicting classifications of pathogenicity Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA415185611 rs_1557194488

3 SubmittersRCV000523344RCV000611350

NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) SNV
Germline
ChrX:154420719 Conflicting classifications of pathogenicity Condition: not provided
3-Methylglutaconic aciduria type 2
Endocardial fibroelastosis
Primary dilated cardiomyopathy
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA10562432 rs_200909606

6 SubmittersRCV000521921RCV001078968RCV001167616RCV001167617RCV002461274

NM_000116.5(TAFAZZIN):c.542-3C>G SNV
Germline
ChrX:154419702 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
CA658684336 rs_781795144

1 SubmittersRCV000578250

NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) SNV
Germline
ChrX:154414137 Conflicting classifications of pathogenicity not specified
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
CA10562336 rs_782240044

2 SubmittersRCV000600705RCV002528530

NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) SNV
Germline
ChrX:154412214 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
CA415180284 rs_1557191170

2 SubmittersRCV000637296

NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) SNV
Germline
ChrX:154419746 Pathogenic Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Single Submitter
rs_878853656

2 SubmittersRCV000676908RCV001844221

NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) SNV
Germline
ChrX:154413564 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
rs_1569552731

2 SubmittersRCV000678752

NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) SNV
Germline
ChrX:154420936 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2 Criteria Provided
Conflicting Classifications
rs_1298362744

2 SubmittersRCV000853287

NM_000116.5(TAFAZZIN):c.371-6C>A SNV
Germline
ChrX:154414095 Conflicting classifications of pathogenicity Cardiomyopathy
Condition: not provided
3-Methylglutaconic aciduria type 2
TAFAZZIN-related disorder
Criteria Provided
Conflicting Classifications
rs_782195445

6 SubmittersRCV000770596RCV001529457RCV001398741RCV004549839

NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) SNV
Germline
ChrX:154413249 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
rs_1060500044

5 SubmittersRCV000809073RCV001091835

NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) SNV
Germline
ChrX:154413567 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
rs_1603377945

2 SubmittersRCV000791613

NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) SNV
Germline
ChrX:154420262 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
rs_1603381860

1 SubmittersRCV000819778

NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) SNV
Germline
ChrX:154412214 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
rs_1557191170

2 SubmittersRCV000995886

NM_000116.5(TAFAZZIN):c.542-2A>G SNV
Germline
ChrX:154419703 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
rs_2068574381

1 SubmittersRCV001061185

NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=) SNV
Germline
ChrX:154413238 Conflicting classifications of pathogenicity Endocardial fibroelastosis
3-Methylglutaconic aciduria type 2
Primary dilated cardiomyopathy
Criteria Provided
Conflicting Classifications
rs_781986219

2 SubmittersRCV001168186RCV001168188RCV001168187

NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) SNV
Germline
ChrX:154413548 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
Endocardial fibroelastosis
Primary dilated cardiomyopathy
Condition: not provided
TAFAZZIN-related disorder
Criteria Provided
Conflicting Classifications
rs_782564325

5 SubmittersRCV001168190RCV001168191RCV001168189RCV001528484RCV004548040

NM_000116.5(TAFAZZIN):c.777+1G>A SNV
Germline
ChrX:154420736 Pathogenic/Likely pathogenic Cardiomyopathy
3-Methylglutaconic aciduria type 2
Criteria Provided
Multiple Submitters
No Conflicts
rs_2068606932

3 SubmittersRCV001193472RCV003236876

NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter) SNV
Germline
ChrX:154420731 Likely pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
rs_2068606445

1 SubmittersRCV001283758

NM_000116.5(TAFAZZIN):c.109+5G>A SNV
Germline
ChrX:154411957 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
rs_2148185111

2 SubmittersRCV001385891

NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) SNV
Germline
ChrX:154419550 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
Condition: not provided
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
rs_990648341

3 SubmittersRCV001428179RCV001673059RCV003160717

NM_000116.5(TAFAZZIN):c.110-6C>G SNV
Germline
ChrX:154412080 Conflicting classifications of pathogenicity Condition: not provided
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications
rs_782099193

2 SubmittersRCV001772850RCV002544039

NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=) SNV
Germline
ChrX:154420093 Conflicting classifications of pathogenicity Cardiovascular phenotype
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002463253RCV003103037

NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg) SNV
Germline
ChrX:154413567 Conflicting classifications of pathogenicity Cardiovascular phenotype
3-Methylglutaconic aciduria type 2
Criteria Provided
Conflicting Classifications

3 SubmittersRCV002463259RCV003103038

NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val) SNV
Germline
ChrX:154419716 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003066417

NM_000116.5(TAFAZZIN):c.284+5G>A SNV
Germline
ChrX:154413257 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002627729

NM_000116.5(TAFAZZIN):c.584-1G>A SNV
Germline
ChrX:154420031 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV002681793

NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter) SNV
Germline
ChrX:154412129 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003034414

NM_000116.5(TAFAZZIN):c.541+1G>T SNV
Germline
ChrX:154419624 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237251

NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg) SNV
Germline
ChrX:154413567 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237255

NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter) SNV
Germline
ChrX:154419579 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237260

NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter) SNV
Germline
ChrX:154413482 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237267

NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter) SNV
Germline
ChrX:154420706 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237269

NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter) SNV
Unknown
ChrX:154411894 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237270

NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter) SNV
Germline
ChrX:154412139 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237272

NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter) SNV
Unknown
ChrX:154420057 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237273

NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu) SNV
Unknown
ChrX:154412198 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237277

NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly) SNV
Germline
ChrX:154413248 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237278

NM_000116.5(TAFAZZIN):c.699+1G>T SNV
Germline
ChrX:154420265 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237289

NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter) SNV
Germline
ChrX:154412212 Pathogenic 3-Methylglutaconic aciduria type 2
TAFAZZIN-related disorder
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003237290RCV004548512

NM_000116.5(TAFAZZIN):c.238+2T>G SNV
Germline
ChrX:154412216 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003237291

NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe) SNV
Germline
ChrX:154412191 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003329097

NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter) SNV
Germline
ChrX:154419725 Pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV003513726