Total 116 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
 CA415180402 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

4 SubmittersRCV000011850RCV001091834
NM_000116.5(TAFAZZIN):c.239-1G>C SNV
Germline		 ChrX:154413206 Pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
 CA415180405 rs_1603377590

1 SubmittersRCV000011851
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) SNV
Germline		 ChrX:154420037 Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2
TAFAZZIN-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA255719 rs_132630277

7 SubmittersRCV000011854RCV003226156RCV003333950
NM_000116.5(TAFAZZIN):c.109+5G>C SNV
Germline		 ChrX:154411957 Likely pathogenic 3-Methylglutaconic aciduria type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415178782 rs_2148185111

3 SubmittersRCV000011855RCV005620336
NM_000116.5(TAFAZZIN):c.284+110G>A SNV
Germline		 ChrX:154413362 Pathogenic 3-Methylglutaconic aciduria type 2 No Assertion Criteria Provided
 CA913185072 rs_1603377747

1 SubmittersRCV000011856
NM_000116.5(TAFAZZIN):c.110-2A>G SNV
Germline		 ChrX:154412084 Pathogenic 3-Methylglutaconic aciduria type 2
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415179258 rs_1603376833

4 SubmittersRCV000011858RCV005887432
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
 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 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA261284 rs_397515741

2 SubmittersRCV000035090RCV004767032
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

6 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

5 SubmittersRCV000154422RCV002470779
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val) SNV
Germline		 ChrX:154420212 Likely pathogenic Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA273540 rs_727504431

2 SubmittersRCV000154666RCV005888489
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) SNV
Germline		 ChrX:154412130 Pathogenic Condition: not provided
3-Methylglutaconic aciduria type 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA308797 rs_794729166

2 SubmittersRCV000183906RCV005089930
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 Conflicting classifications of pathogenicity Condition: not provided
3-Methylglutaconic aciduria type 2		 Criteria Provided
Conflicting Classifications
 CA10577661 rs_876661112

3 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 Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Endocardial fibroelastosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10653864 rs_1057515818

3 SubmittersRCV000350806RCV000395947RCV000402701RCV000841319
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 3-Methylglutaconic aciduria type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415184463 rs_1085307797

6 SubmittersRCV000816124RCV000489828
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
Multiple Submitters
No Conflicts
 CA415184012 rs_878853656

3 SubmittersRCV000676908RCV001844221
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) SNV
Germline		 ChrX:154413564 Pathogenic 3-Methylglutaconic aciduria type 2
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA415182131 rs_1569552731

3 SubmittersRCV000678752RCV005627385
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
 CA415185684 rs_1298362744

2 SubmittersRCV000853287
NM_000116.5(TAFAZZIN):c.371-6C>A SNV
Germline		 ChrX:154414095 Conflicting classifications of pathogenicity Cardiomyopathy
3-Methylglutaconic aciduria type 2
Condition: not provided
TAFAZZIN-related disorder		 Criteria Provided
Conflicting Classifications
 CA10562334 rs_782195445

7 SubmittersRCV000770596RCV001398741RCV001529457RCV004549839
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
 CA415180774 rs_1060500044

6 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
 CA415182157 rs_1603377945

2 SubmittersRCV000791613
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) SNV
Germline		 ChrX:154420262 Pathogenic 3-Methylglutaconic aciduria type 2
TAFAZZIN-related disorder
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA415185269 rs_1603381860

3 SubmittersRCV000819778RCV004723241RCV005902081
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
 CA415180281 rs_1557191170

2 SubmittersRCV000995886
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) SNV
Germline		 ChrX:154411870 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA415178018 rs_1223065368

2 SubmittersRCV001042821RCV002462272
NM_000116.5(TAFAZZIN):c.542-2A>G SNV
Germline		 ChrX:154419703 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
 CA415183806 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
 CA10562298 rs_781986219

2 SubmittersRCV001168186RCV001168188RCV001168187
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) SNV
Germline		 ChrX:154413548 Conflicting classifications of pathogenicity Endocardial fibroelastosis
Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Condition: not provided
TAFAZZIN-related disorder		 Criteria Provided
Conflicting Classifications
 CA10562329 rs_782564325

5 SubmittersRCV001168191RCV001168189RCV001168190RCV001528484RCV004548040
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
 CA415185542 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
 CA415185527 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
 CA2499226503 rs_2148185111

2 SubmittersRCV001385891
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=) SNV
Germline		 ChrX:154412174 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA10562284 rs_782470471

2 SubmittersRCV001409405RCV004681165
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
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Conflicting Classifications
 CA337287770 rs_990648341

4 SubmittersRCV001428179RCV001673059RCV003160717RCV005912737
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
 CA10562278 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
 CA337288171 rs_374146054

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
 CA415182152 rs_1603377945

3 SubmittersRCV002463259RCV003103038
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val) SNV
Germline		 ChrX:154419716 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
TAFAZZIN-related disorder		 Criteria Provided
Conflicting Classifications
 CA415183866 rs_2522986801

3 SubmittersRCV003066417RCV004725491
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
 CA2580101800 rs_2522937677

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
 CA415184048 rs_2522990255

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
 CA415179644 rs_104894941

2 SubmittersRCV003034414
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile) SNV
Germline		 ChrX:154419614 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
 CA415183724 rs_2522985442

1 SubmittersRCV004786902
NM_000116.5(TAFAZZIN):c.541+1G>T SNV
Germline		 ChrX:154419624 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter
 CA415183771 rs_2522985614

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
 CA415182155 rs_1603377945

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
 CA415183581 rs_2522985080

1 SubmittersRCV003237260
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter) SNV
Germline		 ChrX:154413482 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA415180914 rs_2522941783

2 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
 CA415185449 rs_1557194377

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
 CA415178215 rs_1603376560

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
 CA415179696 rs_2522924351

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
 CA415184205 rs_2522990592

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
 CA415180154 rs_2522925157

1 SubmittersRCV003237277
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly) SNV
Germline		 ChrX:154413248 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Multiple Submitters
No Conflicts
 CA415180772 rs_104894942

2 SubmittersRCV003237278
NM_000116.5(TAFAZZIN):c.699+1G>T SNV
Germline		 ChrX:154420265 Likely pathogenic 3-Methylglutaconic aciduria type 2
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA415185282 rs_1057518416

2 SubmittersRCV003237289RCV005930812
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
 CA415180267 rs_2522925387

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
 CA415180295 rs_2148186695

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
 CA415180067 rs_1557191139

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
 CA415183908 rs_375663114

1 SubmittersRCV003513726
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu) SNV
Germline		 ChrX:154414101 Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA10562335 rs_782404246

2 SubmittersRCV003511871RCV004676237
NM_000116.5(TAFAZZIN):c.583+3A>G SNV
Germline		 ChrX:154419749 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005255264
NM_000116.5(TAFAZZIN):c.238+1G>A SNV
Germline		 ChrX:154412215 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV006506223
NM_000116.5(TAFAZZIN):c.284+1G>A SNV
Germline		 ChrX:154413253 Likely pathogenic 3-Methylglutaconic aciduria type 2 Criteria Provided
Single Submitter

1 SubmittersRCV006584709