Total 625 pathogenic variants reported for Maple syrup urine disease 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) SNV
Germline
Chr19:41424582 Pathogenic/Likely pathogenic Maple syrup urine disease type 1A
Condition: not provided
Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA115507 rs_137852870

19 SubmittersRCV000002473RCV000079229RCV000055825RCV002514533

NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) SNV
Germline
Chr19:41422643 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA115508 rs_137852871

10 SubmittersRCV000179775RCV000790729RCV001175041

NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys) SNV
Germline
Chr19:41424496 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA115510 rs_137852872

3 SubmittersRCV001378888

NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) SNV
Germline
Chr19:41422310 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA115512 rs_137852873

8 SubmittersRCV000393620RCV001379690RCV004566672

NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser) SNV
Germline
Chr19:41422262 Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA115515 rs_137852874

5 SubmittersRCV001064270RCV001818118RCV004566673

NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg) SNV
Germline
Chr19:41422704 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA115518 rs_137852875

5 SubmittersRCV000179776RCV002222336RCV005016224

NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) SNV
Germline
Chr19:41422309 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA115521 rs_137852876

4 SubmittersRCV002512677RCV005024992

NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) SNV
Germline
Chr6:80168945 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1B
Inborn genetic diseases
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA121789 rs_79761867

19 SubmittersRCV000056008RCV000082754RCV000589206RCV002512989RCV004566721

NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr) SNV
Germline
Chr6:80169013 Likely pathogenic Maple syrup urine disease type 1B
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA121791 rs_121965004

3 SubmittersRCV003534309RCV003460460

NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly) SNV
Germline
Chr6:80167690 Pathogenic Maple syrup urine disease type 1B No Assertion Criteria Provided
CA121794 rs_121965005

1 SubmittersRCV003534310

NM_001918.5(DBT):c.827T>G (p.Phe276Cys) SNV
Germline
Chr1:100214929 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
See cases
Maple syrup urine disease type 2
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA121797 rs_121964999

13 SubmittersRCV000079957RCV000179835RCV002251898RCV003581558RCV004566722

NM_001918.5(DBT):c.1018-550A>G SNV
Germline
Chr1:100207186 Pathogenic/Likely pathogenic Maple syrup urine disease
DBT-related disorder
Maple syrup urine disease type 2
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA212933 rs_796052135

8 SubmittersRCV000668558RCV003415688RCV003581560RCV004566723

NM_001918.5(DBT):c.1448G>T (p.Ter483Leu) SNV
Germline
Chr1:100196256 Pathogenic Maple syrup urine disease type 2 No Assertion Criteria Provided
CA121800 rs_121965000

1 SubmittersRCV003581561

NM_001918.5(DBT):c.294C>G (p.Ile98Met) SNV
Germline
Chr1:100230872 Pathogenic Maple syrup urine disease type 2 No Assertion Criteria Provided
CA121802 rs_121965001

1 SubmittersRCV003581562

NM_001918.5(DBT):c.1355A>G (p.His452Arg) SNV
Germline
Chr1:100196349 Pathogenic Maple syrup urine disease type 2 No Assertion Criteria Provided
CA121804 rs_121965002

1 SubmittersRCV003581564

NM_001918.5(DBT):c.581C>G (p.Ser194Ter) SNV
Germline
Chr1:100216174 Pathogenic Maple syrup urine disease type 2 No Assertion Criteria Provided
CA121806 rs_121965003

1 SubmittersRCV000012731

NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter) SNV
Germline
Chr6:80343739 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224253 rs_386834234

4 SubmittersRCV000056007RCV000790721RCV005430116

NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) SNV
Germline
Chr6:80201023 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Condition: not provided
Maple syrup urine disease type 1A
BCKDHB-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA224347 rs_386834233

18 SubmittersRCV000056009RCV000587416RCV000762424RCV004566908RCV004751250

NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) SNV
Germline
Chr19:41423038 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
not specified
Criteria Provided
Conflicting Classifications
CA221176 rs_182923857

6 SubmittersRCV000180181RCV000790743RCV004566947RCV004700391

NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) SNV
Germline
Chr19:41423039 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221177 rs_398123486

6 SubmittersRCV000180182RCV000790816RCV004566948

NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) SNV
Germline
Chr19:41424504 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA221182 rs_398123490

12 SubmittersRCV000180522RCV000790815RCV000853374RCV002514392

NM_000709.4(BCKDHA):c.249C>T (p.Asp83=) SNV
Germline
Chr19:41410777 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA221191 rs_398123495

3 SubmittersRCV000079232RCV001409643

NM_000709.4(BCKDHA):c.288+1G>A SNV
Germline
Chr19:41410817 Pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA275072 rs_398123496

10 SubmittersRCV000079233RCV000175639RCV001275909

NM_000709.4(BCKDHA):c.288+9C>T SNV
Germline
Chr19:41410825 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221193 rs_398123497

8 SubmittersRCV000175638RCV000790795RCV001275910

NM_000709.4(BCKDHA):c.288C>T (p.His96=) SNV
Germline
Chr19:41410816 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Inborn genetic diseases
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA221194 rs_148571328

8 SubmittersRCV000270845RCV000723410RCV001273301RCV002514393RCV003964923

NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) SNV
Germline
Chr19:41410981 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA221196 rs_398123498

5 SubmittersRCV000079236RCV001283813RCV003987352

NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp) SNV
Germline
Chr19:41411004 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221198 rs_398123499

4 SubmittersRCV000177087RCV001854398RCV004566950

NM_000709.4(BCKDHA):c.485-28G>A SNV
Germline
Chr19:41419107 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA221203 rs_114178789

3 SubmittersRCV000079245RCV001795082

NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met) SNV
Germline
Chr19:41419282 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221206 rs_398123503

7 SubmittersRCV000178794RCV000790699RCV003982876

NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val) SNV
Germline
Chr19:41422176 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221207 rs_375785084

7 SubmittersRCV000179335RCV000790736RCV001831820

NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) SNV
Germline
Chr19:41422180 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Inborn genetic diseases
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA221208 rs_151227241

5 SubmittersRCV000079250RCV001089235RCV003298133RCV003894931

NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) SNV
Germline
Chr19:41422225 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA221210 rs_146932786

9 SubmittersRCV000338131RCV000723409RCV001273306RCV003298134

NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) SNV
Germline
Chr19:41422278 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA221213 rs_373713279

5 SubmittersRCV000179338RCV000819695RCV004566951

NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro) SNV
Germline
Chr19:41422370 Pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221220 rs_398123508

9 SubmittersRCV000079257RCV000179337RCV001275916

NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) SNV
Germline
Chr19:41422665 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA221222 rs_200137189

9 SubmittersRCV000079259RCV000664897RCV004566952

NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala) SNV
Germline
Chr19:41422680 Pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221224 rs_398123509

6 SubmittersRCV000179780RCV001283857RCV004813052

NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter) SNV
Germline
Chr19:41422739 Pathogenic Condition: not provided
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA221230 rs_398123513

2 SubmittersRCV000179777RCV001854399

NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) SNV
Germline
Chr19:41422753 Conflicting classifications of pathogenicity not specified
Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA221232 rs_398123514

6 SubmittersRCV000079268RCV000723468RCV001079760RCV001826715RCV005520238

NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) SNV
Germline
Chr19:41422754 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221234 rs_398123515

9 SubmittersRCV000179779RCV000790719RCV001275918

NM_001918.5(DBT):c.1291C>T (p.Arg431Ter) SNV
Germline
Chr1:100196413 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 2
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221874 rs_398123660

7 SubmittersRCV000174059RCV000790685RCV005003455RCV005430117

NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) SNV
Germline
Chr1:100196286 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
DBT-related disorder
Criteria Provided
Conflicting Classifications
CA221878 rs_75525811

7 SubmittersRCV000079935RCV000280987RCV003935037

NM_001918.5(DBT):c.1430T>G (p.Met477Arg) SNV
Germline
Chr1:100196274 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA221880 rs_398123662

4 SubmittersRCV000079936RCV000702839

NM_001918.5(DBT):c.51+1G>T SNV
Germline
Chr1:100249769 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA221891 rs_398123669

4 SubmittersRCV000173266RCV001377582RCV005016361

NM_001918.5(DBT):c.5C>T (p.Ala2Val) SNV
Germline
Chr1:100249816 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA221896 rs_398123672

4 SubmittersRCV000079949RCV000631893

NM_001918.5(DBT):c.670G>T (p.Glu224Ter) SNV
Germline
Chr1:100216085 Pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 2
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA221900 rs_74103423

13 SubmittersRCV000079951RCV000179397RCV002298465RCV004566954

NM_001918.5(DBT):c.753C>T (p.Asp251=) SNV
Germline
Chr1:100216002 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA147535 rs_79292123

8 SubmittersRCV000079954RCV000871289RCV001703990

NM_001918.5(DBT):c.773-2A>G SNV
Germline
Chr1:100214985 Pathogenic Condition: not provided
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA221902 rs_398123674

2 SubmittersRCV000179838RCV004527311

NM_001918.5(DBT):c.871C>T (p.Arg291Ter) SNV
Germline
Chr1:100214885 Pathogenic Condition: not provided
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA221903 rs_398123675

4 SubmittersRCV000179837RCV002514405

NM_001918.5(DBT):c.901C>T (p.Arg301Cys) SNV
Germline
Chr1:100214855 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA275397 rs_185492864

12 SubmittersRCV000079959RCV000179836RCV004566955RCV005003456

NM_001918.5(DBT):c.939G>C (p.Lys313Asn) SNV
Germline
Chr1:100214817 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA221905 rs_398123676

8 SubmittersRCV000179839RCV000790732RCV005430119RCV001250158

NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) SNV
Germline
Chr6:80273189 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224232 rs_398124560

9 SubmittersRCV000082719RCV000674620RCV000587204RCV004566957

NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu) SNV
Germline
Chr6:80273199 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA224235 rs_398124561

11 SubmittersRCV000180715RCV001052144RCV004566959RCV004566958

NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) SNV
Germline
Chr6:80343671 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224238 rs_398124562

6 SubmittersRCV000173927RCV000790712RCV001831887RCV004566960

NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn) SNV
Germline
Chr6:80343712 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA224250 rs_398124565

4 SubmittersRCV000082725RCV000811483

NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) SNV
Germline
Chr6:80129188 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA224266 rs_398124571

5 SubmittersRCV000177427RCV001162146RCV005031573

NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter) SNV
Germline
Chr6:80129228 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224273 rs_398124573

5 SubmittersRCV000177426RCV000790829RCV004566962

NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) SNV
Germline
Chr6:80168876 Conflicting classifications of pathogenicity Condition: not provided
not specified
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA224280 rs_398124576

3 SubmittersRCV000179044RCV003317084RCV002514448

NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys) SNV
Germline
Chr6:80168899 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA224289 rs_398124579

7 SubmittersRCV000082744RCV000818306RCV005031574RCV004566963

NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) SNV
Germline
Chr6:80168903 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Conflicting Classifications
CA224292 rs_398124580

6 SubmittersRCV000082745RCV001040696RCV001831889

NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly) SNV
Germline
Chr6:80168905 Likely pathogenic Condition: not provided
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224298 rs_398124581

3 SubmittersRCV000179045RCV005042198RCV004566964

NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys) SNV
Germline
Chr6:80168905 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Inborn genetic diseases
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224301 rs_398124581

6 SubmittersRCV000179043RCV000790692RCV002513854RCV004566965

NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) SNV
Germline
Chr6:80168906 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA224304 rs_371518124

8 SubmittersRCV000082749RCV000179047RCV004566966RCV005042199

NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) SNV
Germline
Chr6:80168906 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Inborn genetic diseases
BCKDHB-related disorder
Criteria Provided
Conflicting Classifications
CA224306 rs_371518124

5 SubmittersRCV000082750RCV000631889RCV002513855RCV004751259

NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr) SNV
Germline
Chr6:80168923 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA224309 rs_398124582

6 SubmittersRCV000179049RCV001202851RCV001831890

NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp) SNV
Germline
Chr6:80168944 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease type 1B
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA224315 rs_149766077

8 SubmittersRCV000082753RCV001831891RCV001857396

NM_183050.4(BCKDHB):c.587A>T (p.His196Leu) SNV
Germline
Chr6:80168984 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA224321 rs_398124585

2 SubmittersRCV000082756RCV003114246

NM_183050.4(BCKDHB):c.633+16T>C SNV
Germline
Chr6:80169046 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA224329 rs_373772596

2 SubmittersRCV000082760RCV002055231

NM_183050.4(BCKDHB):c.633+1G>A SNV
Germline
Chr6:80169031 Pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA224330 rs_398124589

9 SubmittersRCV000179048RCV000811119RCV004566968RCV005031576

NM_183050.4(BCKDHB):c.742+16A>G SNV
Germline
Chr6:80171406 Conflicting classifications of pathogenicity Condition: not provided
not specified
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA224337 rs_140373763

5 SubmittersRCV000723411RCV001731370RCV001795154

NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter) SNV
Germline
Chr6:80200939 Pathogenic Condition: not provided
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA224338 rs_398124592

3 SubmittersRCV000180017RCV001047777

NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala) SNV
Germline
Chr6:80200943 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224341 rs_398124593

7 SubmittersRCV000180018RCV000586350RCV000790839RCV005430491

NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) SNV
Germline
Chr6:80200990 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA274241 rs_398124594

8 SubmittersRCV000169389RCV000790821RCV001826771RCV004566969

NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro) SNV
Germline
Chr6:80201008 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA224344 rs_398124595

2 SubmittersRCV000082769RCV003522925

NM_183050.4(BCKDHB):c.840+2T>G SNV
Germline
Chr6:80201033 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224349 rs_398124596

3 SubmittersRCV000180019RCV000790653RCV005430122

NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter) SNV
Germline
Chr6:80203114 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224353 rs_398124598

11 SubmittersRCV000169304RCV000790747RCV001193356RCV004566970

NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) SNV
Germline
Chr6:80273153 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA224362 rs_398124603

12 SubmittersRCV000169351RCV000790773RCV000779833RCV004566973

NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg) SNV
Germline
Chr6:80273157 Likely pathogenic Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA224365 rs_398124604

2 SubmittersRCV000790833RCV005430492

NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) SNV
Germline
Chr1:100230801 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease type 1A
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA233879 rs_727503896

4 SubmittersRCV000153139RCV004567174RCV002516075

NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) SNV
Germline
Chr6:80343769 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
not specified
Maple syrup urine disease type 1B
Criteria Provided
Conflicting Classifications
CA233527 rs_727503822

6 SubmittersRCV000152850RCV001261643RCV004527362RCV004689628RCV005042296

NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) SNV
Germline
Chr19:41424521 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Inborn genetic diseases
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA233525 rs_147021347

8 SubmittersRCV000723905RCV001084720RCV003162622RCV004752758

NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) SNV
Germline
Chr1:100240810 Pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA275073 rs_794727262

4 SubmittersRCV000175709RCV000724185RCV005430258

NM_001918.5(DBT):c.917C>G (p.Ser306Cys) SNV
Germline
Chr1:100214839 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA247142 rs_794727856

2 SubmittersRCV000179840RCV003635905

NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) SNV
Germline
Chr19:41423082 Conflicting classifications of pathogenicity not specified
Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA247553 rs_373390136

6 SubmittersRCV000180183RCV000724666RCV001078509RCV001835710RCV004730897

NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys) SNV
Germline
Chr6:80171289 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA312368 rs_796051940

4 SubmittersRCV002008695RCV004571908RCV005042647

NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn) SNV
Germline
Chr6:80273205 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA312365 rs_796051939

5 SubmittersRCV000185797RCV000209023RCV005431536

NM_000709.4(BCKDHA):c.470A>C (p.Gln157Pro) SNV
Germline
Chr19:41414143 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354926 rs_869312125

1 SubmittersRCV000209796

NM_000709.4(BCKDHA):c.476G>A (p.Arg159Gln) SNV
Germline
Chr19:41414149 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA354907 rs_773048903

2 SubmittersRCV000209016RCV004567386

NM_000709.4(BCKDHA):c.844G>C (p.Asp282His) SNV
Germline
Chr19:41422361 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354918 rs_869312124

1 SubmittersRCV000209700

NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter) SNV
Germline
Chr19:41424468 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA279886 rs_863225262

5 SubmittersRCV000202366RCV005025306

NM_001918.5(DBT):c.327C>T (p.Thr109=) SNV
Germline
Chr1:100230839 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease
Condition: not provided
DBT-related disorder
Criteria Provided
Conflicting Classifications
CA205366 rs_138796800

10 SubmittersRCV000192508RCV000322581RCV000756009RCV003917747

NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile) SNV
Germline
Chr6:80106696 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354923 rs_869312128

1 SubmittersRCV000209790

NM_183050.4(BCKDHB):c.197-2A>G SNV
Germline
Chr6:80127545 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354913 rs_869312127

1 SubmittersRCV000209460

NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) SNV
Germline
Chr6:80129179 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
not specified
Criteria Provided
Conflicting Classifications
CA354910 rs_869312126

4 SubmittersRCV000209422RCV005430511RCV005406951

NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn) SNV
Germline
Chr6:80167735 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354928 rs_869312130

1 SubmittersRCV000209826

NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu) SNV
Germline
Chr6:80168951 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354920 rs_148905512

1 SubmittersRCV000209747

NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala) SNV
Germline
Chr6:80273147 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354915 rs_869312131

1 SubmittersRCV000209523

NM_001918.5(DBT):c.1033G>A (p.Gly345Arg) SNV
Germline
Chr1:100206621 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA354965 rs_869312132

1 SubmittersRCV000209922

NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter) SNV
Germline
Chr19:41422715 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA354952 rs_753698250

10 SubmittersRCV000209887RCV001194035

NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) SNV
Germline
Chr6:80106779 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA3902493 rs_9448884

3 SubmittersRCV000246746RCV000901604

NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) SNV
Germline
Chr6:80106744 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1B
Criteria Provided
Conflicting Classifications
CA3902485 rs_376293687

6 SubmittersRCV000269861RCV000327459RCV001828179

NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys) SNV
Germline
Chr19:41419215 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA10604119 rs_886042356

4 SubmittersRCV000351654RCV001859557RCV005055819

NM_183050.4(BCKDHB):c.290A>T (p.Asp97Val) SNV
Germline
Chr6:80129176 Likely pathogenic Condition: not provided
Maple syrup urine disease type 1B
Criteria Provided
Single Submitter
CA10605114 rs_886043103

2 SubmittersRCV000392751RCV005606660

NM_001918.5(DBT):c.1389C>T (p.Phe463=) SNV
Germline
Chr1:100196315 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA10607161 rs_886044964

2 SubmittersRCV000350038

NM_001918.5(DBT):c.291C>T (p.Ser97=) SNV
Germline
Chr1:100230875 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA969782 rs_201318480

4 SubmittersRCV000372605RCV000439344

NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) SNV
Germline
Chr6:80106744 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Condition: not provided
Maple syrup urine disease type 1B
Criteria Provided
Conflicting Classifications
CA3902484 rs_376293687

8 SubmittersRCV000324921RCV000419989RCV001727704RCV001835785

NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) SNV
Germline
Chr19:41397890 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Condition: not provided
BCKDHA-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9460973 rs_140322984

7 SubmittersRCV000302671RCV001275905RCV001544681RCV003972391RCV004601158

NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) SNV
Germline
Chr19:41410687 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461012 rs_775471043

4 SubmittersRCV000363085RCV001833460

NM_000709.4(BCKDHA):c.995+8C>T SNV
Germline
Chr19:41422778 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA10642869 rs_886054462

3 SubmittersRCV000341614

NM_000709.3(BCKDHA):c.-25G>C SNV
Germline
Chr19:41397803 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA9460955 rs_202084220

2 SubmittersRCV000396708RCV000599925

NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) SNV
Germline
Chr19:41414108 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461140 rs_369278165

4 SubmittersRCV000273550RCV001833461

NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) SNV
Germline
Chr19:41424461 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
Inborn genetic diseases
not specified
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA9461400 rs_374403946

8 SubmittersRCV000306729RCV001705494RCV002348073RCV005434836RCV004752855

NM_001918.5(DBT):c.725C>G (p.Ser242Ter) SNV
Germline
Chr1:100216030 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA16040653 rs_201559874

3 SubmittersRCV000409585RCV004567878

NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val) SNV
Germline
Chr6:80167744 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA3902601 rs_776631396

7 SubmittersRCV000410485RCV004567884RCV001828375

NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter) SNV
Germline
Chr6:80168884 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA16041095 rs_1057516799

6 SubmittersRCV000409047RCV000780960RCV005430323

NM_183050.4(BCKDHB):c.840+1G>A SNV
Germline
Chr6:80201032 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA16041097 rs_760538465

2 SubmittersRCV000411423RCV005430297

NM_183050.4(BCKDHB):c.840+1G>T SNV
Germline
Chr6:80201032 Pathogenic Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA3902769 rs_760538465

2 SubmittersRCV000578568RCV005430294

NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter) SNV
Germline
Chr19:41410665 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA9461009 rs_376456598

5 SubmittersRCV000409408RCV004567877

NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe) SNV
Germline
Chr6:80171285 Likely pathogenic Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA16604994 rs_994415333

2 SubmittersRCV000429032RCV005430535

NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) SNV
Germline
Chr6:80167699 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
No Assertion Criteria Provided
CA16609445 rs_398124575

2 SubmittersRCV000449606RCV005430537

NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn) SNV
Germline
Chr6:80343715 Likely pathogenic Maple syrup urine disease No Assertion Criteria Provided
CA16609446 rs_1060499715

1 SubmittersRCV000449516

NM_001918.5(DBT):c.401C>T (p.Pro134Leu) SNV
Germline
Chr1:100230765 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA341343716 rs_1131691488

4 SubmittersRCV000493274RCV000984157RCV005430540

NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) SNV
Germline
Chr6:80273178 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
BCKDHB-related disorder
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA365009178 rs_1554205541

8 SubmittersRCV000498242RCV000530607RCV003419842RCV005430542

NM_000709.4(BCKDHA):c.647-1G>C SNV
Germline
Chr19:41422163 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA9461229 rs_753216964

8 SubmittersRCV000498679RCV000670031RCV005018835

NM_000709.4(BCKDHA):c.1168-2A>G SNV
Germline
Chr19:41424436 Pathogenic/Likely pathogenic Condition: not provided
Maple syrup urine disease type 1A
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA406015132 rs_1555767285

5 SubmittersRCV000497494RCV000587694RCV000668125

NM_001918.5(DBT):c.902G>A (p.Arg301His) SNV
Germline
Chr1:100214854 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Maple syrup urine disease type 2
Criteria Provided
Conflicting Classifications
CA969643 rs_770981889

4 SubmittersRCV000503792RCV003488640RCV004568642

NM_183050.4(BCKDHB):c.275-2A>G SNV
Germline
Chr6:80129159 Pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364659123 rs_1554184224

3 SubmittersRCV000523329RCV000671012RCV005430544

NM_001918.5(DBT):c.872G>T (p.Arg291Leu) SNV
Germline
Chr1:100214884 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA341337383 rs_775808731

4 SubmittersRCV000535685RCV001844190RCV005430545

NM_183050.4(BCKDHB):c.503G>A (p.Arg168His) SNV
Germline
Chr6:80168900 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364657743 rs_749033513

6 SubmittersRCV000553115RCV001829563RCV005430546

NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) SNV
Germline
Chr19:41410983 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA9461092 rs_188135164

3 SubmittersRCV000526694RCV001834747

NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) SNV
Germline
Chr19:41423083 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9461367 rs_61736656

5 SubmittersRCV000549241RCV001536367

NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) SNV
Germline
Chr6:80167737 Pathogenic/Likely pathogenic Maple syrup urine disease type 1B
Condition: not provided
Maple syrup urine disease
Abnormality of metabolism/homeostasis
Maple syrup urine disease type 1A
BCKDHB-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA3902600 rs_751953459

10 SubmittersRCV000589594RCV000732154RCV001796129RCV001814191RCV004568308RCV004730986

NM_000709.4(BCKDHA):c.854-2A>G SNV
Germline
Chr19:41422627 Pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA9461288 rs_760494152

5 SubmittersRCV000592741RCV001379040RCV001829666

NM_000709.4(BCKDHA):c.289-5C>T SNV
Germline
Chr19:41410918 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA9461076 rs_200646708

5 SubmittersRCV000600235RCV000876184RCV003915762

NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) SNV
Germline
Chr19:41414093 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease
Inborn genetic diseases
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA9461134 rs_143608852

6 SubmittersRCV000615226RCV000948473RCV002331080RCV003905639

NM_000709.4(BCKDHA):c.375+4C>T SNV
Germline
Chr19:41411013 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA9461099 rs_377496852

3 SubmittersRCV000606989RCV002529613RCV003905614

NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) SNV
Germline
Chr19:41422718 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA9461307 rs_373336888

3 SubmittersRCV000625823RCV002271540

NM_001918.5(DBT):c.311A>G (p.Asp104Gly) SNV
Germline
Chr1:100230855 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344325 rs_1553232188

1 SubmittersRCV000631890

NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) SNV
Germline
Chr6:80168945 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA142284037 rs_79761867

4 SubmittersRCV000631894RCV004568374

NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) SNV
Germline
Chr1:100206452 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Maple syrup urine disease type 2
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA341330307 rs_1449113689

6 SubmittersRCV000668260RCV004526740RCV005004334RCV004568514

NM_001918.5(DBT):c.1195T>G (p.Ser399Ala) SNV
Germline
Chr1:100206459 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA341330332 rs_1553229654

2 SubmittersRCV000666706RCV005430445

NM_001918.5(DBT):c.1382C>A (p.Ser461Ter) SNV
Germline
Chr1:100196322 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA341351426 rs_1553228626

2 SubmittersRCV000673281RCV005430762

NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) SNV
Germline
Chr1:100196304 Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA969456 rs_767760099

3 SubmittersRCV000669588RCV000760490RCV005430630

NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) SNV
Germline
Chr1:100206528 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
not specified
Maple syrup urine disease type 1A
Maple syrup urine disease type 2
Criteria Provided
Conflicting Classifications
CA969568 rs_768389398

6 SubmittersRCV000670216RCV001092053RCV001797779RCV005430659RCV005010662

NM_001918.5(DBT):c.788T>C (p.Met263Thr) SNV
Germline
Chr1:100214968 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA341337997 rs_1553230703

2 SubmittersRCV000667766RCV005430575

NM_001918.5(DBT):c.555+1G>A SNV
Unknown
Chr1:100218625 Likely pathogenic Maple syrup urine disease type 1A No Assertion Criteria Provided
CA341340441 rs_1553231037

1 SubmittersRCV005430714

NM_001918.5(DBT):c.434-1G>A SNV
Germline
Chr1:100218748 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA969740 rs_754004231

2 SubmittersRCV000666893RCV005430451

NM_001918.5(DBT):c.1343G>A (p.Trp448Ter) SNV
Germline
Chr1:100196361 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA969468 rs_749366506

3 SubmittersRCV000672644RCV005430738

NM_001918.5(DBT):c.1017G>A (p.Lys339=) SNV
Germline
Chr1:100210694 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Condition: not provided
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA419099915 rs_1490661508

5 SubmittersRCV000665137RCV004568490RCV005091923RCV004792358

NM_001918.5(DBT):c.634C>T (p.Gln212Ter) SNV
Germline
Chr1:100216121 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA341338666 rs_1553230841

4 SubmittersRCV000673717RCV004568559

NM_183050.4(BCKDHB):c.633+1G>C SNV
Unknown
Chr6:80169031 Likely pathogenic Maple syrup urine disease type 1A No Assertion Criteria Provided
CA364658203 rs_398124589

1 SubmittersRCV005430413

NM_183050.4(BCKDHB):c.952-2A>G SNV
Germline
Chr6:80273133 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA365008741 rs_1554205499

3 SubmittersRCV000665340RCV004568491

NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) SNV
Germline
Chr6:80343774 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA365021597 rs_190867671

4 SubmittersRCV000668675RCV005430604

NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu) SNV
Germline
Chr6:80106694 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364657845 rs_1005542482

5 SubmittersRCV000666521RCV003987655RCV005430439

NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter) SNV
Germline
Chr6:80106862 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364658399 rs_1554181192

3 SubmittersRCV000671817RCV005430711

NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter) SNV
Germline
Chr6:80106874 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA3902516 rs_774916970

2 SubmittersRCV000673646RCV005430773

NM_183050.4(BCKDHB):c.196+1G>T SNV
Unknown
Chr6:80106890 Likely pathogenic Maple syrup urine disease type 1A No Assertion Criteria Provided
CA364658461 rs_1554181203

1 SubmittersRCV005430751

NM_183050.4(BCKDHB):c.841-1G>C SNV
Germline
Chr6:80203101 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA142287792 rs_962489830

3 SubmittersRCV000666534RCV005046861RCV005430441

NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys) SNV
Germline
Chr6:80273171 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA365009112 rs_1224101411

5 SubmittersRCV000673516RCV005046905RCV005430769

NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu) SNV
Germline
Chr6:80343692 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA365021410 rs_1304667430

3 SubmittersRCV000672025RCV004568547

NM_183050.4(BCKDHB):c.742+1G>A SNV
Germline
Chr6:80171391 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA364658788 rs_1554190322

2 SubmittersRCV000672647RCV005430739

NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr) SNV
Germline
Chr6:80106695 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA142276824 rs_940391887

3 SubmittersRCV000669039RCV005430615

NM_183050.4(BCKDHB):c.196+1G>C SNV
Unknown
Chr6:80106890 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA364658460 rs_1554181203

2 SubmittersRCV000672543RCV005430734

NM_183050.4(BCKDHB):c.343+2T>G SNV
Germline
Chr6:80129231 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA364659278 rs_1554184237

2 SubmittersRCV000672452RCV005430729

NM_183050.4(BCKDHB):c.633+1G>T SNV
Germline
Chr6:80169031 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364658206 rs_398124589

5 SubmittersRCV000669008RCV001829852RCV005430613

NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) SNV
Germline
Chr6:80343784 Pathogenic/Likely pathogenic Maple syrup urine disease
BCKDHB-related disorder
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA3902857 rs_751599203

9 SubmittersRCV000671826RCV003403562RCV004568543RCV005046893

NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp) SNV
Germline
Chr19:41414148 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA9461152 rs_769688327

2 SubmittersRCV000669276RCV005430621

NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr) SNV
Germline
Chr19:41422274 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA9461255 rs_199599175

4 SubmittersRCV000674422RCV001835912

NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter) SNV
Germline
Chr19:41422634 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA9461290 rs_764247545

7 SubmittersRCV000669536RCV001829858

NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) SNV
Germline
Chr19:41422664 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461294 rs_145901144

5 SubmittersRCV000671303RCV003323673RCV004568541

NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter) SNV
Germline
Chr19:41423121 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA308525459 rs_765543886

4 SubmittersRCV000673741RCV005430776

NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile) SNV
Unknown
Chr19:41397830 Likely pathogenic Maple syrup urine disease type 1A No Assertion Criteria Provided
CA406023089 rs_1555764014

1 SubmittersRCV005430722

NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro) SNV
Germline
Chr19:41422311 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA308524327 rs_761996996

3 SubmittersRCV000672950RCV005430752

NM_000709.4(BCKDHA):c.853+1G>T SNV
Unknown
Chr19:41422371 Likely pathogenic Maple syrup urine disease type 1A No Assertion Criteria Provided
CA406013104 rs_1555767028

1 SubmittersRCV005430625

NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter) SNV
Germline
Chr19:41424462 Likely pathogenic Maple syrup urine disease type 1A Criteria Provided
Single Submitter
CA406015257 rs_201168715

2 SubmittersRCV005253051

NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter) SNV
Germline
Chr19:41410655 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA308515228 rs_374625613

4 SubmittersRCV000665755RCV005430420

NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) SNV
Germline
Chr19:41423089 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA308525418 rs_942815730

4 SubmittersRCV000674875RCV004568570

NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter) SNV
Germline
Chr6:80168961 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA3902654 rs_774306610

4 SubmittersRCV000704171RCV001825391RCV005253084

NM_000709.4(BCKDHA):c.108+5G>C SNV
Germline
Chr19:41397940 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA891843543 rs_1568499702

1 SubmittersRCV000694889

NM_183050.4(BCKDHB):c.498G>C (p.Lys166Asn) SNV
Germline
Chr6:80168895 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease type 1B
not specified
Criteria Provided
Conflicting Classifications
CA364657732 rs_1562104211

3 SubmittersRCV000727895RCV005036042RCV004526761

NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) SNV
Germline
Chr6:80200935 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
BCKDHB-related disorder
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA3902752 rs_147719822

6 SubmittersRCV000755846RCV001080961RCV003955490RCV005306143

NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr) SNV
Unknown
Chr6:80343770 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA365021586 rs_1202365275

1 SubmittersRCV000761470

NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro) SNV
Unknown
Chr19:41410966 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406005684 rs_1568503938

1 SubmittersRCV000761534

NM_001918.5(DBT):c.1281+1G>T SNV
Germline
Chr1:100206229 Pathogenic/Likely pathogenic Maple syrup urine disease type 1A
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA341329699 rs_1557943881

2 SubmittersRCV004577341RCV004798867

NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter) SNV
Germline
Chr19:41423071 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA9461364 rs_762199542

1 SubmittersRCV000785061

NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp) SNV
Germline
Chr6:80106889 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658457 rs_1328608014

1 SubmittersRCV000822086

NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr) SNV
Germline
Chr19:41424522 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9461414 rs_368567109

5 SubmittersRCV000806773RCV001830757RCV002534833RCV005004437

NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) SNV
Germline
Chr19:41422261 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9461252 rs_137960127

5 SubmittersRCV000872380RCV001273308RCV004962893

NM_183050.4(BCKDHB):c.411G>A (p.Ala137=) SNV
Germline
Chr6:80167745 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Conflicting Classifications
CA3902602 rs_142858149

3 SubmittersRCV000973810RCV001273119

NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn) SNV
Germline
Chr6:80169030 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1B
BCKDHB-related disorder
Criteria Provided
Conflicting Classifications
CA3902660 rs_143427811

5 SubmittersRCV000973811RCV001273120RCV003928566

NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) SNV
Germline
Chr19:41410928 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases
BCKDHA-related disorder
Criteria Provided
Conflicting Classifications
CA9461081 rs_142967869

6 SubmittersRCV000880930RCV001273303RCV002434172RCV003955819

NM_001918.5(DBT):c.62G>A (p.Arg21His) SNV
Germline
Chr1:100240874 Conflicting classifications of pathogenicity Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA969837 rs_533707792

2 SubmittersRCV000902742RCV004028532

NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) SNV
Germline
Chr19:41410964 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461088 rs_201366184

4 SubmittersRCV000898091RCV001273304

NM_001918.5(DBT):c.442G>T (p.Glu148Ter) SNV
Germline
Chr1:100218739 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA341340708 rs_1570820579

3 SubmittersRCV000986389

NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe) SNV
Unknown
Chr6:80168875 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364657691 rs_1582275277

1 SubmittersRCV000987746

NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys) SNV
Unknown
Chr6:80168925 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA3902645 rs_763645251

1 SubmittersRCV000987747

NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu) SNV
Germline
Chr19:41410927 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9461080 rs_532803527

4 SubmittersRCV000996931RCV001471532RCV004962989

NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala) SNV
Germline
Chr19:41422170 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406012671 rs_2039372961

2 SubmittersRCV001035319RCV005401692

NM_183050.4(BCKDHB):c.1038+2T>C SNV
Germline
Chr6:80273223 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA3902833 rs_762419044

3 SubmittersRCV001067446RCV001827439

NM_183050.4(BCKDHB):c.343+1G>C SNV
Germline
Chr6:80129230 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364659274 rs_1770503105

1 SubmittersRCV001050317

NM_001918.5(DBT):c.198G>A (p.Gln66=) SNV
Germline
Chr1:100235489 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA969798 rs_201714436

3 SubmittersRCV001101248

NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) SNV
Germline
Chr19:41410653 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA9461007 rs_150177278

3 SubmittersRCV001132487

NM_000709.4(BCKDHA):c.441C>G (p.Ala147=) SNV
Germline
Chr19:41414114 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA507557896 rs_2039284438

2 SubmittersRCV001134883

NM_000709.4(BCKDHA):c.108+12G>A SNV
Germline
Chr19:41397947 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA9460983 rs_780834493

2 SubmittersRCV001129780

NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) SNV
Germline
Chr6:80171380 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA3902717 rs_537988425

3 SubmittersRCV001164159

NM_183050.4(BCKDHB):c.1A>G (p.Met1Val) SNV
Germline
Chr6:80106694 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA142276823 rs_1005542482

4 SubmittersRCV001174774RCV001836126

NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter) SNV
Germline
Chr6:80129217 Pathogenic Maple syrup urine disease type 1B
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA3902576 rs_371117671

6 SubmittersRCV001193355RCV001218214RCV004570408

NM_000709.4(BCKDHA):c.1168-1G>A SNV
Germline
Chr19:41424437 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406015139 rs_2039405116

2 SubmittersRCV001197612

NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter) SNV
Germline
Chr6:80171306 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Single Submitter
CA364658553 rs_1772902148

2 SubmittersRCV001224152RCV005606779

NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter) SNV
Germline
Chr6:80168893 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA364657727 rs_1772735425

5 SubmittersRCV001203795

NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter) SNV
Germline
Chr6:80200936 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364659888 rs_1774361781

1 SubmittersRCV001212982

NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser) SNV
Germline
Chr19:41414157 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406008475 rs_2039285328

1 SubmittersRCV001209953

NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter) SNV
Germline
Chr19:41423063 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406013881 rs_1214763792

3 SubmittersRCV001204854

NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter) SNV
Germline
Chr19:41411001 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Single Submitter
CA406006048 rs_2039247540

2 SubmittersRCV001235560RCV005606784

NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln) SNV
Germline
Chr19:41423096 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461368 rs_375957868

3 SubmittersRCV001240489RCV001828952

NM_183050.4(BCKDHB):c.951+1G>A SNV
Germline
Chr6:80203213 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA3902795 rs_756647770

2 SubmittersRCV001232495RCV004570581

NM_000709.4(BCKDHA):c.1167+1G>C SNV
Germline
Chr19:41423170 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406014325 rs_2039389302

1 SubmittersRCV001244572

NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) SNV
Germline
Chr1:100206470 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341330369 rs_1661797765

1 SubmittersRCV001255378

NM_001918.5(DBT):c.252G>T (p.Trp84Cys) SNV
Germline
Chr1:100230914 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA969783 rs_200638406

2 SubmittersRCV001255379RCV004570647

NM_001918.5(DBT):c.1209+1G>A SNV
Germline
Chr1:100206444 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341330272 rs_1661795778

1 SubmittersRCV001255380

NM_000709.4(BCKDHA):c.740A>G (p.His247Arg) SNV
Germline
Chr19:41422257 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA406012849 rs_1468416468

3 SubmittersRCV001262490RCV005057176

NM_001918.5(DBT):c.1208C>A (p.Ser403Ter) SNV
Unknown
Chr1:100206446 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341330277 rs_1661796496

1 SubmittersRCV001264214

NM_001918.5(DBT):c.961C>T (p.Gln321Ter) SNV
Germline
Chr1:100210750 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA341335030 rs_1662088383

3 SubmittersRCV001263639RCV004570653

NM_001918.5(DBT):c.298G>T (p.Glu100Ter) SNV
Unknown
Chr1:100230868 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344377 rs_1663520073

1 SubmittersRCV001263640

NM_001918.5(DBT):c.209C>A (p.Ser70Ter) SNV
Unknown
Chr1:100235478 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341345478 rs_398123664

1 SubmittersRCV001263641

NM_001918.5(DBT):c.196C>T (p.Gln66Ter) SNV
Unknown
Chr1:100235491 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341345547 rs_1663814011

1 SubmittersRCV001263642

NM_001918.5(DBT):c.187C>T (p.Gln63Ter) SNV
Unknown
Chr1:100235500 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341345602 rs_1663814241

1 SubmittersRCV001263643

NM_001918.5(DBT):c.126T>A (p.Tyr42Ter) SNV
Unknown
Chr1:100240810 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341346937 rs_794727262

1 SubmittersRCV001263644

NM_001918.5(DBT):c.70C>T (p.Gln24Ter) SNV
Unknown
Chr1:100240866 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341347132 rs_1664173086

1 SubmittersRCV001263645

NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter) SNV
Unknown
Chr6:80167686 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364660363 rs_1772645594

1 SubmittersRCV001263564

NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter) SNV
Unknown
Chr6:80168898 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364657739 rs_1772736212

1 SubmittersRCV001263565

NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter) SNV
Unknown
Chr6:80169022 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658160 rs_1389512878

1 SubmittersRCV001263566

NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter) SNV
Unknown
Chr6:80171380 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658766 rs_537988425

1 SubmittersRCV001263567

NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter) SNV
Unknown
Chr6:80200981 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364659984 rs_933828560

1 SubmittersRCV001263852

NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter) SNV
Germline
Chr6:80201021 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA364660064 rs_1774369632

2 SubmittersRCV001263853

NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter) SNV
Unknown
Chr19:41410724 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406004719 rs_2039242789

2 SubmittersRCV001264340

NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter) SNV
Unknown
Chr19:41414078 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406007811 rs_1459441231

1 SubmittersRCV001264341

NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter) SNV
Unknown
Chr19:41419235 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406010977 rs_575806482

1 SubmittersRCV001263561

NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter) SNV
Germline
Chr19:41422229 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406012789 rs_1303770209

3 SubmittersRCV001263562RCV004570652

NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter) SNV
Unknown
Chr19:41422706 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013419 rs_2039381583

1 SubmittersRCV001263563

NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) SNV
Germline
Chr6:80167744 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA364660495 rs_776631396

3 SubmittersRCV001381550

NM_000709.4(BCKDHA):c.995+1G>A SNV
Germline
Chr19:41422771 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406013556 rs_2039383036

2 SubmittersRCV002642394RCV004571195

NM_001918.5(DBT):c.1281+1G>C SNV
Germline
Chr1:100206229 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341329702 rs_1557943881

1 SubmittersRCV001379050

NM_001918.5(DBT):c.252-1G>T SNV
Germline
Chr1:100230915 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344566 rs_1663522846

1 SubmittersRCV001377757

NM_001918.5(DBT):c.52-1G>A SNV
Germline
Chr1:100240885 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA341347204 rs_755914063

2 SubmittersRCV001379105

NM_000709.4(BCKDHA):c.109-1G>A SNV
Germline
Chr19:41410636 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406004413 rs_2123253583

2 SubmittersRCV001378292

NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln) SNV
Germline
Chr19:41422311 Pathogenic/Likely pathogenic Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA308524323 rs_761996996

3 SubmittersRCV001376744RCV002265026RCV004570920

NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu) SNV
Germline
Chr19:41424497 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406015371 rs_2098470870

1 SubmittersRCV001378139

NM_001918.5(DBT):c.1281+2T>A SNV
Germline
Chr1:100206228 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341329695 rs_2100779270

1 SubmittersRCV001390159

NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg) SNV
Germline
Chr6:80106889 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658456 rs_1328608014

1 SubmittersRCV001380845

NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter) SNV
Germline
Chr19:41410658 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406004562 rs_1220443382

1 SubmittersRCV001380797

NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter) SNV
Germline
Chr19:41422659 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013322 rs_1318419473

1 SubmittersRCV001387039

NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter) SNV
Germline
Chr19:41424576 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406015648 rs_1298823471

2 SubmittersRCV001385732

NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro) SNV
Germline
Chr19:41397862 Conflicting classifications of pathogenicity Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9460967 rs_769659202

2 SubmittersRCV001414007RCV004038111

NM_000709.4(BCKDHA):c.1070A>G (p.Gln357Arg) SNV
Germline
Chr19:41423072 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461365 rs_185688419

2 SubmittersRCV001409138RCV005023157

NM_000709.4(BCKDHA):c.1286G>A (p.Arg429His) SNV
Germline
Chr19:41424556 Conflicting classifications of pathogenicity Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9461422 rs_143065803

2 SubmittersRCV001442175RCV002555591

NM_001918.5(DBT):c.1292G>C (p.Arg431Pro) SNV
Germline
Chr1:100196412 Conflicting classifications of pathogenicity Condition: not provided
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA969477 rs_776490043

2 SubmittersRCV001653038RCV003523103

NM_001918.5(DBT):c.52-1G>C SNV
Germline
Chr1:100240885 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA969838 rs_755914063

1 SubmittersRCV001780609

NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val) SNV
Germline
Chr19:41422164 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
BCKDHA-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA9461230 rs_369448982

5 SubmittersRCV001780680RCV004571095RCV003892844

NM_001918.5(DBT):c.1196C>G (p.Ser399Cys) SNV
Germline
Chr1:100206458 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341330329 rs_2100779875

1 SubmittersRCV001807947

NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly) SNV
Germline
Chr19:41422634 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461289 rs_764247545

4 SubmittersRCV001810551RCV004571110

NM_000709.4(BCKDHA):c.484+1G>A SNV
Germline
Chr19:41414158 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406008486 rs_2122122667

1 SubmittersRCV001837053

NM_001918.5(DBT):c.916T>C (p.Ser306Pro) SNV
Germline
Chr1:100214840 Pathogenic Maple syrup urine disease type 2
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA341337018 rs_2100797134

4 SubmittersRCV001840964RCV002543269

NM_001918.5(DBT):c.820C>A (p.Pro274Thr) SNV
Germline
Chr1:100214936 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341337803 rs_1310427311

1 SubmittersRCV001843390

NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His) SNV
Germline
Chr19:41424582 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406015686 rs_137852870

3 SubmittersRCV001848605RCV004764804

NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter) SNV
Germline
Chr6:80171315 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658601 rs_1248040495

1 SubmittersRCV001936965

NM_183050.4(BCKDHB):c.196G>C (p.Gly66Arg) SNV
Germline
Chr6:80106889 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658458 rs_1328608014

1 SubmittersRCV001941750

NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr) SNV
Germline
Chr19:41422325 Likely pathogenic Maple syrup urine disease
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA9461263 rs_765045050

3 SubmittersRCV002040176RCV004721001

NM_001918.5(DBT):c.296G>A (p.Cys99Tyr) SNV
Germline
Chr1:100230870 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344389 rs_1557956678

1 SubmittersRCV002010688

NM_001918.5(DBT):c.1A>G (p.Met1Val) SNV
Germline
Chr1:100249820 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA969877 rs_759312184

2 SubmittersRCV001949316RCV003235637

NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln) SNV
Germline
Chr19:41411005 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA9461097 rs_752700457

1 SubmittersRCV002008317

NM_001918.5(DBT):c.311A>T (p.Asp104Val) SNV
Germline
Chr1:100230855 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344324 rs_1553232188

1 SubmittersRCV002005492

NM_001918.5(DBT):c.1324C>T (p.Gln442Ter) SNV
Germline
Chr1:100196380 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341351622 rs_1276927916

1 SubmittersRCV001874647

NM_001918.5(DBT):c.29G>A (p.Trp10Ter) SNV
Germline
Chr1:100249792 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA969861 rs_572340170

2 SubmittersRCV001919733

NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter) SNV
Germline
Chr19:41423030 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013814 rs_774735002

1 SubmittersRCV001919750

NM_001918.5(DBT):c.1232C>T (p.Pro411Leu) SNV
Germline
Chr1:100206279 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341330042 rs_2100779419

1 SubmittersRCV002002443

NM_001918.5(DBT):c.1384C>T (p.Arg462Cys) SNV
Germline
Chr1:100196320 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA969461 rs_765257706

1 SubmittersRCV001999539

NM_001918.5(DBT):c.175+1G>A SNV
Germline
Chr1:100240760 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341346749 rs_2100844517

1 SubmittersRCV002011455

NM_001918.5(DBT):c.772+1G>C SNV
Germline
Chr1:100215982 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341338130 rs_2100799417

1 SubmittersRCV001989113

NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter) SNV
Germline
Chr19:41397860 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406023147 rs_1207966026

1 SubmittersRCV001951278

NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp) SNV
Germline
Chr19:41422756 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA406013517 rs_2039382789

2 SubmittersRCV002020620RCV005361921

NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys) SNV
Germline
Chr19:41422262 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406012858 rs_137852874

1 SubmittersRCV002043368

NM_183050.4(BCKDHB):c.477+1G>A SNV
Germline
Chr6:80167812 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA142283916 rs_1002472211

2 SubmittersRCV001972711RCV004571739

NM_001918.5(DBT):c.304C>T (p.Gln102Ter) SNV
Germline
Chr1:100230862 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344354 rs_2100827593

1 SubmittersRCV001972787

NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln) SNV
Germline
Chr19:41422635 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA9461291 rs_757457825

1 SubmittersRCV002018388

NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg) SNV
Germline
Chr6:80273220 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA365009409 rs_2127965290

2 SubmittersRCV002033600

NM_001918.5(DBT):c.1385G>C (p.Arg462Pro) SNV
Germline
Chr1:100196319 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA969460 rs_750594890

5 SubmittersRCV001918341RCV005050453

NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val) SNV
Germline
Chr6:80167726 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA364660459 rs_774472182

4 SubmittersRCV001918259RCV004571587RCV005038483

NM_001918.5(DBT):c.206T>C (p.Leu69Pro) SNV
Germline
Chr1:100235481 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA341345493 rs_1663813561

3 SubmittersRCV002022420

NM_000709.4(BCKDHA):c.996-2A>G SNV
Germline
Chr19:41422996 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406013729 rs_2122146208

2 SubmittersRCV001984178

NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly) SNV
Germline
Chr19:41422275 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406012889 rs_1213596075

1 SubmittersRCV002043878

NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu) SNV
Germline
Chr19:41422293 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Criteria Provided
Conflicting Classifications
CA406012929 rs_2122143393

2 SubmittersRCV002024792RCV004699650

NM_001918.5(DBT):c.1309G>A (p.Glu437Lys) SNV
Germline
Chr1:100196395 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA969473 rs_772490888

2 SubmittersRCV002209091

NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) SNV
Germline
Chr19:41422260 Conflicting classifications of pathogenicity Maple syrup urine disease Criteria Provided
Conflicting Classifications
CA308524255 rs_887411374

2 SubmittersRCV002248980

NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn) SNV
Germline
Chr19:41414127 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406008194 rs_2122122610

3 SubmittersRCV002249293RCV005017161

NM_183050.4(BCKDHB):c.1039-2A>G SNV
Germline
Chr6:80343662 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA365021339 rs_2128020522

2 SubmittersRCV002249294RCV005042756

NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr) SNV
Germline
Chr6:80273174 Likely pathogenic Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA365009145 rs_1777825845

3 SubmittersRCV002254500RCV003094176RCV005042760

NM_000709.4(BCKDHA):c.996-26A>G SNV
Germline
Chr19:41422972 Conflicting classifications of pathogenicity Condition: not provided
not specified
Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA9461348 rs_757986569

5 SubmittersRCV002274682RCV004700711RCV003096179RCV004572113

NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter) SNV
Germline
Chr19:41424525 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406015445 rs_1437382824

2 SubmittersRCV002308594

NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter) SNV
Unknown
Chr19:41414142 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406008318 rs_2513454434

1 SubmittersRCV002309961

NM_183050.4(BCKDHB):c.949A>T (p.Lys317Ter) SNV
Unknown
Chr6:80203210 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364660334 rs_2482270092

1 SubmittersRCV002308084

NM_001918.5(DBT):c.904G>T (p.Gly302Ter) SNV
Unknown
Chr1:100214852 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341337097 rs_2524147212

1 SubmittersRCV002309061

NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter) SNV
Unknown
Chr19:41410952 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406005527 rs_2513452367

1 SubmittersRCV002310105

NM_001918.5(DBT):c.131C>G (p.Ser44Ter) SNV
Unknown
Chr1:100240805 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341346926 rs_2524255388

1 SubmittersRCV002310271

NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter) SNV
Germline
Chr19:41410781 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406004912 rs_2513452174

2 SubmittersRCV002310363

NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly) SNV
Germline
Chr6:80171294 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658493 rs_2481919576

1 SubmittersRCV003060065

NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys) SNV
Germline
Chr6:80200958 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364659935 rs_1384040769

2 SubmittersRCV003060066RCV004572723

NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser) SNV
Germline
Chr19:41422317 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA406012979 rs_1568508047

4 SubmittersRCV003064585RCV005019592

NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys) SNV
Germline
Chr6:80168981 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA142284038 rs_1009457715

2 SubmittersRCV003061178RCV004572740

NM_001918.5(DBT):c.16A>G (p.Met6Val) SNV
Germline
Chr1:100249805 Conflicting classifications of pathogenicity Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA969866 rs_749693779

2 SubmittersRCV003077628RCV005552872

NM_001918.5(DBT):c.1259T>C (p.Ile420Thr) SNV
Germline
Chr1:100206252 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA969522 rs_769600540

2 SubmittersRCV003087431RCV005002948

NM_000709.4(BCKDHA):c.853+2T>C SNV
Germline
Chr19:41422372 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA9461272 rs_558254502

2 SubmittersRCV002579160

NM_001918.5(DBT):c.182G>A (p.Arg61His) SNV
Germline
Chr1:100235505 Conflicting classifications of pathogenicity Inborn genetic diseases
Maple syrup urine disease
Criteria Provided
Conflicting Classifications
CA969799 rs_199954954

2 SubmittersRCV004073091RCV003092610

NM_000709.4(BCKDHA):c.566G>A (p.Arg189His) SNV
Germline
Chr19:41419216 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406010931 rs_1200370519

1 SubmittersRCV002621450

NM_001918.5(DBT):c.1210-1G>C SNV
Germline
Chr1:100206302 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341330200 rs_1271011315

1 SubmittersRCV002618811

NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter) SNV
Germline
Chr19:41419157 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA9461190 rs_754613642

3 SubmittersRCV002736209RCV005019359

NM_183050.4(BCKDHB):c.197-2A>C SNV
Germline
Chr6:80127545 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658941 rs_869312127

1 SubmittersRCV002834329

NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter) SNV
Germline
Chr6:80168982 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364657960 rs_2481900188

1 SubmittersRCV002837888

NM_183050.4(BCKDHB):c.197-1G>C SNV
Germline
Chr6:80127546 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658944 rs_2481557966

1 SubmittersRCV002829324

NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu) SNV
Germline
Chr19:41422681 Conflicting classifications of pathogenicity Maple syrup urine disease
Condition: not provided
Criteria Provided
Conflicting Classifications
CA406013369 rs_2513460454

2 SubmittersRCV002858548RCV003223763

NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly) SNV
Germline
Chr19:41422680 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013367 rs_398123509

1 SubmittersRCV002903690

NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp) SNV
Germline
Chr19:41414052 Conflicting classifications of pathogenicity Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9461126 rs_779792601

2 SubmittersRCV002928553RCV003308349

NM_001918.5(DBT):c.872G>A (p.Arg291Gln) SNV
Germline
Chr1:100214884 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA969646 rs_775808731

1 SubmittersRCV002928850

NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val) SNV
Germline
Chr6:80203204 Conflicting classifications of pathogenicity Maple syrup urine disease
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA364660319 rs_1774481189

2 SubmittersRCV002979501RCV005522754

NM_001918.5(DBT):c.581C>A (p.Ser194Ter) SNV
Germline
Chr1:100216174 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341338973 rs_121965003

1 SubmittersRCV002996120

NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter) SNV
Germline
Chr19:41410805 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406005057 rs_753452195

1 SubmittersRCV003014725

NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe) SNV
Germline
Chr6:80168977 Pathogenic/Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA364657941 rs_2481900030

2 SubmittersRCV003149167

NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter) SNV
Germline
Chr19:41397859 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406023144 rs_2513443827

2 SubmittersRCV003155795

NM_001918.5(DBT):c.434-1G>C SNV
Germline
Chr1:100218748 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341340729 rs_754004231

1 SubmittersRCV003317816

NM_001918.5(DBT):c.51+1G>C SNV
Germline
Chr1:100249769 Conflicting classifications of pathogenicity Maple syrup urine disease
Maple syrup urine disease type 2
Criteria Provided
Conflicting Classifications
CA341348355 rs_398123669

3 SubmittersRCV003445371RCV005021971

NM_000709.4(BCKDHA):c.993C>G (p.Tyr331Ter) SNV
Unknown
Chr19:41422768 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013547 rs_904711508

1 SubmittersRCV003465150

NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp) SNV
Germline
Chr19:41419135 Conflicting classifications of pathogenicity Maple syrup urine disease
not specified
Maple syrup urine disease type 1A
Criteria Provided
Conflicting Classifications
CA406010420 rs_1251140817

4 SubmittersRCV003465151RCV003488802RCV004574039

NM_000709.4(BCKDHA):c.376-1G>A SNV
Unknown
Chr19:41414048 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406007562 rs_2513454323

1 SubmittersRCV003465153

NM_000709.4(BCKDHA):c.376-2A>G SNV
Germline
Chr19:41414047 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406007556 rs_1322799946

3 SubmittersRCV003465154RCV005021988

NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro) SNV
Germline
Chr19:41410942 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA406005439 rs_2513452355

2 SubmittersRCV003465155

NM_000709.4(BCKDHA):c.1238A>G (p.Tyr413Cys) SNV
Unknown
Chr19:41424508 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406015395 rs_2513462327

1 SubmittersRCV003465157

NM_000709.4(BCKDHA):c.996-1G>A SNV
Germline
Chr19:41422997 Likely pathogenic Maple syrup urine disease type 1A Criteria Provided
Multiple Submitters
No Conflicts
CA406013731 rs_2513460977

2 SubmittersRCV004574040

NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter) SNV
Germline
Chr19:41419179 Pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406010708 rs_2513457448

2 SubmittersRCV003465164RCV005622238

NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile) SNV
Germline
Chr6:80201009 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA3902766 rs_769886312

3 SubmittersRCV003465166RCV005047620

NM_183050.4(BCKDHB):c.633+2T>C SNV
Unknown
Chr6:80169032 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658210 rs_2481901220

1 SubmittersRCV003465167

NM_183050.4(BCKDHB):c.634-2A>G SNV
Germline
Chr6:80171280 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364658466 rs_1295567170

2 SubmittersRCV003465175RCV004574046

NM_183050.4(BCKDHB):c.831G>A (p.Trp277Ter) SNV
Unknown
Chr6:80201022 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364660067 rs_1174121102

1 SubmittersRCV003465176

NM_183050.4(BCKDHB):c.275-1G>A SNV
Unknown
Chr6:80129160 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364659125 rs_2481575908

1 SubmittersRCV003465178

NM_183050.4(BCKDHB):c.196+1G>A SNV
Unknown
Chr6:80106890 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658459 rs_1554181203

1 SubmittersRCV003474337

NM_001918.5(DBT):c.252-2A>T SNV
Unknown
Chr1:100230916 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344570 rs_1342553753

1 SubmittersRCV003466103

NM_001918.5(DBT):c.252-2A>G SNV
Unknown
Chr1:100230916 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341344572 rs_1342553753

1 SubmittersRCV003466104

NM_001918.5(DBT):c.394G>A (p.Gly132Arg) SNV
Germline
Chr1:100230772 Likely pathogenic Maple syrup urine disease Criteria Provided
Multiple Submitters
No Conflicts
CA341343788 rs_2524216359

2 SubmittersRCV003466106

NM_001918.5(DBT):c.1274C>A (p.Ser425Ter) SNV
Unknown
Chr1:100206237 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341329754 rs_2524106032

1 SubmittersRCV003466107

NM_001918.5(DBT):c.505C>T (p.Arg169Ter) SNV
Germline
Chr1:100218676 Likely pathogenic Maple syrup urine disease type 2
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA341340542 rs_2524164751

2 SubmittersRCV003989846RCV004574032

NM_001918.5(DBT):c.1132C>T (p.Gln378Ter) SNV
Unknown
Chr1:100206522 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA969567 rs_780579655

1 SubmittersRCV003466111

NM_001918.5(DBT):c.250T>C (p.Trp84Arg) SNV
Unknown
Chr1:100235437 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA27598545 rs_113842781

1 SubmittersRCV003482202

NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter) SNV
Germline
Chr6:80168929 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA364657801 rs_2481898824

2 SubmittersRCV003523262RCV004574056

NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter) SNV
Germline
Chr6:80106888 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658455 rs_1402634815

1 SubmittersRCV003522236

NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter) SNV
Germline
Chr19:41410953 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406005545 rs_749487379

1 SubmittersRCV003524117

NM_000709.4(BCKDHA):c.995+2T>C SNV
Germline
Chr19:41422772 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013559 rs_2513460625

1 SubmittersRCV003524329

NM_000709.4(BCKDHA):c.853+1G>C SNV
Germline
Chr19:41422371 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013106 rs_1555767028

1 SubmittersRCV003522340

NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter) SNV
Germline
Chr6:80343667 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA365021353 rs_989873156

1 SubmittersRCV003525050

NM_000709.4(BCKDHA):c.746G>T (p.Gly249Val) SNV
Germline
Chr19:41422263 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406012861 rs_796051937

1 SubmittersRCV003523581

NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter) SNV
Germline
Chr6:80171369 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658742 rs_1159943999

1 SubmittersRCV003525293

NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter) SNV
Germline
Chr6:80106761 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364658073 rs_2533311576

1 SubmittersRCV003524770

NM_001918.5(DBT):c.1018-2A>T SNV
Germline
Chr1:100206638 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341332828 rs_2524109140

1 SubmittersRCV003522766

NM_001918.5(DBT):c.772+2T>G SNV
Germline
Chr1:100215981 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341338125 rs_2524153154

1 SubmittersRCV003522615

NM_001918.5(DBT):c.437C>A (p.Ser146Ter) SNV
Germline
Chr1:100218744 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341340719 rs_2524165275

1 SubmittersRCV003522896

NM_000709.4(BCKDHA):c.375+1G>A SNV
Germline
Chr19:41411010 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406006142 rs_2513452452

1 SubmittersRCV003636350

NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter) SNV
Germline
Chr19:41423123 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1A
Criteria Provided
Multiple Submitters
No Conflicts
CA406014060 rs_2513461198

2 SubmittersRCV003637121RCV005014841

NM_183050.4(BCKDHB):c.841-2A>G SNV
Germline
Chr6:80203100 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364660091 rs_2482267558

1 SubmittersRCV003637084

NM_183050.4(BCKDHB):c.274+1G>T SNV
Germline
Chr6:80127625 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA3902555 rs_377722320

1 SubmittersRCV003637221

NM_001918.5(DBT):c.280C>T (p.Gln94Ter) SNV
Germline
Chr1:100230886 Pathogenic/Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 2
Criteria Provided
Multiple Submitters
No Conflicts
CA341344457 rs_2524217135

2 SubmittersRCV003637243RCV005014846

NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter) SNV
Germline
Chr19:41410952 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406005532 rs_2513452367

1 SubmittersRCV003637296

NM_000709.4(BCKDHA):c.375+2T>G SNV
Germline
Chr19:41411011 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA9461098 rs_756052603

1 SubmittersRCV003637812

NM_001918.5(DBT):c.1017+1G>T SNV
Germline
Chr1:100210693 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341334391 rs_1176555925

1 SubmittersRCV003637627

NM_001918.5(DBT):c.1017+1G>A SNV
Germline
Chr1:100210693 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341334392 rs_1176555925

1 SubmittersRCV003637726

NM_183050.4(BCKDHB):c.274+2T>C SNV
Germline
Chr6:80127626 Likely pathogenic Maple syrup urine disease
Maple syrup urine disease type 1B
Criteria Provided
Multiple Submitters
No Conflicts
CA364659121 rs_2481559722

2 SubmittersRCV003637856RCV005036933

NM_001918.5(DBT):c.881T>A (p.Leu294Ter) SNV
Germline
Chr1:100214875 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341337333 rs_2524147444

1 SubmittersRCV003636702

NM_001918.5(DBT):c.1238T>C (p.Ile413Thr) SNV
Germline
Chr1:100206273 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA341330028 rs_2524106384

1 SubmittersRCV003636763

NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn) SNV
Germline
Chr19:41422679 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406013364 rs_2513460449

1 SubmittersRCV003636808

NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys) SNV
Germline
Chr19:41422229 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406012787 rs_1303770209

1 SubmittersRCV003823298

NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter) SNV
Germline
Chr19:41397882 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA406023192 rs_1176952770

1 SubmittersRCV003838017

NM_183050.4(BCKDHB):c.841-1G>T SNV
Germline
Chr6:80203101 Likely pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364660094 rs_962489830

1 SubmittersRCV003855619

NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val) SNV
Germline
Chr6:80203193 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter
CA364660294 rs_1452496837

1 SubmittersRCV003865727

NM_001918.5(DBT):c.30G>A (p.Trp10Ter) SNV
Germline
Chr1:100249791 Pathogenic/Likely pathogenic Maple syrup urine disease type 2
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts
CA341348427 rs_1250753300

2 SubmittersRCV003988751RCV005064936

NM_001918.5(DBT):c.1199A>G (p.Asn400Ser) SNV
Germline
Chr1:100206455 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter
CA341330321 rs_1661797008

1 SubmittersRCV003990261

NM_001918.5(DBT):c.1346C>G (p.Ser449Ter) SNV
Germline
Chr1:100196358 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter
CA341351568 rs_2524063471

1 SubmittersRCV003990960

NM_001918.5(DBT):c.1274C>G (p.Ser425Ter) SNV
Germline
Chr1:100206237 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter
CA341329753 rs_2524106032

1 SubmittersRCV004527510

NM_152542.5(PPM1K):c.1A>G (p.Met1Val) SNV
Germline
Chr4:88278583 Pathogenic Maple syrup urine disease, mild variant No Assertion Criteria Provided
rs_2476675975

1 SubmittersRCV004556889

NM_001918.5(DBT):c.881T>G (p.Leu294Ter) SNV
Germline
Chr1:100214875 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter
rs_2524147444

1 SubmittersRCV004576125

NM_001918.5(DBT):c.176-1G>A SNV
Germline
Chr1:100235512 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter
rs_1663814857

1 SubmittersRCV004576126

NM_000709.4(BCKDHA):c.376-2A>C SNV
Unknown
Chr19:41414047 Likely pathogenic Maple syrup urine disease type 1A Criteria Provided
Single Submitter
rs_1322799946

1 SubmittersRCV004575398

NM_183050.4(BCKDHB):c.831G>C (p.Trp277Cys) SNV
Germline
Chr6:80201022 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease type 1B
Criteria Provided
Conflicting Classifications
rs_1174121102

2 SubmittersRCV004586134RCV005040705

NM_183050.4(BCKDHB):c.598C>G (p.Pro200Ala) SNV
Germline
Chr6:80168995 Conflicting classifications of pathogenicity not specified
Maple syrup urine disease type 1B
Criteria Provided
Conflicting Classifications
rs_148582754

2 SubmittersRCV004586270RCV005038730

NM_183050.4(BCKDHB):c.833G>A (p.Gly278Asp) SNV
Germline
Chr6:80201024 Likely pathogenic Maple syrup urine disease type 1B Criteria Provided
Single Submitter
rs_2482243041

1 SubmittersRCV004586426

NM_183050.4(BCKDHB):c.547C>G (p.Arg183Gly) SNV
Germline
Chr6:80168944 Likely pathogenic Maple syrup urine disease type 1B
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005038771RCV004690540

NM_000709.4(BCKDHA):c.868G>C (p.Gly290Arg) SNV
Germline
Chr19:41422643 Likely pathogenic Maple syrup urine disease type 1A Criteria Provided
Single Submitter

1 SubmittersRCV004821434

NM_000709.4(BCKDHA):c.853G>T (p.Ala285Ser) SNV
Germline
Chr19:41422370 Likely pathogenic Maple syrup urine disease type 1A Criteria Provided
Single Submitter

1 SubmittersRCV005015762

NM_183050.4(BCKDHB):c.199C>T (p.Gln67Ter) SNV
Germline
Chr6:80127549 Likely pathogenic Maple syrup urine disease type 1B Criteria Provided
Single Submitter

1 SubmittersRCV005033510

NM_183050.4(BCKDHB):c.272C>T (p.Ala91Val) SNV
Germline
Chr6:80127622 Likely pathogenic Maple syrup urine disease type 1B Criteria Provided
Single Submitter

1 SubmittersRCV005045858

NM_183050.4(BCKDHB):c.329T>A (p.Leu110Ter) SNV
Germline
Chr6:80129215 Likely pathogenic Maple syrup urine disease type 1B Criteria Provided
Single Submitter

1 SubmittersRCV005033511

NM_183050.4(BCKDHB):c.665A>G (p.Lys222Arg) SNV
Germline
Chr6:80171313 Likely pathogenic Maple syrup urine disease type 1B Criteria Provided
Single Submitter

1 SubmittersRCV005033514

NM_001918.5(DBT):c.437C>G (p.Ser146Ter) SNV
Germline
Chr1:100218744 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005019851

NM_001918.5(DBT):c.252G>A (p.Trp84Ter) SNV
Germline
Chr1:100230914 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005015360

NM_001918.5(DBT):c.252-1G>A SNV
Germline
Chr1:100230915 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005015694

NM_001918.5(DBT):c.1282-1G>A SNV
Germline
Chr1:100196423 Likely pathogenic Maple syrup urine disease type 2 Criteria Provided
Single Submitter

1 SubmittersRCV005006809

NM_001918.5(DBT):c.1281+1G>A SNV
Germline
Chr1:100206229 Pathogenic/Likely pathogenic Maple syrup urine disease type 2
Maple syrup urine disease
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009156RCV005112549

NM_001918.5(DBT):c.1087C>T (p.Gln363Ter) SNV
Germline
Chr1:100206567 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter

1 SubmittersRCV005126138

NM_000709.4(BCKDHA):c.124C>T (p.Gln42Ter) SNV
Germline
Chr19:41410652 Pathogenic Maple syrup urine disease Criteria Provided
Single Submitter

1 SubmittersRCV005187423

NM_183050.4(BCKDHB):c.551C>T (p.Ser184Phe) SNV
Germline
Chr6:80168948 Likely pathogenic Condition: not provided
Maple syrup urine disease type 1B
Criteria Provided
Single Submitter

2 SubmittersRCV005244920RCV005610830

NM_000709.4(BCKDHA):c.1270C>T (p.Gln424Ter) SNV
Germline
Chr19:41424540 Likely pathogenic Maple syrup urine disease type 1A No Assertion Criteria Provided

1 SubmittersRCV005610467

NM_183050.4(BCKDHB):c.304G>T (p.Gly102Ter) SNV
Germline
Chr6:80129190 Likely pathogenic Maple syrup urine disease type 1B No Assertion Criteria Provided

1 SubmittersRCV005610499