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	Condition: not provided Maple syrup urine disease type 1A Maple syrup urine disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115507	rs_137852870	19 SubmittersRCV000079229 RCV000002473 RCV000055825 RCV002514533
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 SubmittersRCV000179775 RCV000790729 RCV001175041
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	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA115512	rs_137852873	7 SubmittersRCV000393620 RCV001379690 RCV004566672
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	4 SubmittersRCV001064270 RCV001818118 RCV004566673
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)	SNV Germline	Chr19:41422704	Pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA115518	rs_137852875	3 SubmittersRCV000179776 RCV002222336
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 SubmittersRCV000056008 RCV000082754 RCV000589206 RCV002512989 RCV004566721
NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr)	SNV Germline	Chr6:80169013	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Single Submitter	CA121791	rs_121965004	2 SubmittersRCV003460460 RCV003534309
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 Maple syrup urine disease type 2 See cases Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA121797	rs_121964999	13 SubmittersRCV000079957 RCV000179835 RCV003581558 RCV002251898 RCV004566722
NM_001918.5(DBT):c.1018-550A>G	SNV Germline	Chr1:100207186	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 2 Maple syrup urine disease type 1A DBT-related disorder	Criteria Provided Conflicting Classifications	CA212933	rs_796052135	7 SubmittersRCV000668558 RCV003581560 RCV004566723 RCV003415688
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/Likely pathogenic	Maple syrup urine disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224253	rs_386834234	4 SubmittersRCV000056007 RCV000790721
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	Criteria Provided Multiple Submitters No Conflicts	CA224347	rs_386834233	15 SubmittersRCV000056009 RCV000587416 RCV000762424 RCV004566908
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	Criteria Provided Conflicting Classifications	CA221176	rs_182923857	5 SubmittersRCV000180181 RCV000790743 RCV004566947
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 SubmittersRCV000180182 RCV000790816 RCV004566948
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	SNV Germline	Chr19:41424504	Pathogenic/Likely pathogenic	Maple syrup urine disease Inborn genetic diseases Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221182	rs_398123490	12 SubmittersRCV000180522 RCV002514392 RCV000790815 RCV000853374
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 SubmittersRCV000079232 RCV001409643
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 SubmittersRCV000079233 RCV000175639 RCV001275909
NM_000709.4(BCKDHA):c.288+9C>T	SNV Germline	Chr19:41410825	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221193	rs_398123497	8 SubmittersRCV000175638 RCV001275910 RCV000790795
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 SubmittersRCV000270845 RCV000723410 RCV001273301 RCV002514393 RCV003964923
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)	SNV Germline	Chr19:41410981	Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221196	rs_398123498	5 SubmittersRCV000079236 RCV001283813 RCV003987352
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 SubmittersRCV000177087 RCV001854398 RCV004566950
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 SubmittersRCV000079245 RCV001795082
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 SubmittersRCV000178794 RCV000790699 RCV003982876
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 SubmittersRCV000179335 RCV000790736 RCV001831820
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 SubmittersRCV000079250 RCV001089235 RCV003298133 RCV003894931
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 SubmittersRCV000338131 RCV000723409 RCV001273306 RCV003298134
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	4 SubmittersRCV000179338 RCV000819695 RCV004566951
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	SNV Germline	Chr19:41422370	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221220	rs_398123508	9 SubmittersRCV000179337 RCV000079257 RCV001275916
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	SNV Germline	Chr19:41422665	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease type 1A Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA221222	rs_200137189	6 SubmittersRCV000079259 RCV004566952 RCV000664897
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)	SNV Germline	Chr19:41422680	Pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA221224	rs_398123509	5 SubmittersRCV000179780 RCV001283857
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 SubmittersRCV000179777 RCV001854399
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)	SNV Germline	Chr19:41422753	Conflicting classifications of pathogenicity	not specified Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA221232	rs_398123514	5 SubmittersRCV000079268 RCV001079760 RCV000723468 RCV001826715
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	8 SubmittersRCV000179779 RCV000790719 RCV001275918
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	SNV Germline	Chr1:100196413	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221874	rs_398123660	6 SubmittersRCV000174059 RCV000790685
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 SubmittersRCV000079935 RCV000280987 RCV003935037
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 SubmittersRCV000079936 RCV000702839
NM_001918.5(DBT):c.51+1G>T	SNV Germline	Chr1:100249769	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA221891	rs_398123669	3 SubmittersRCV000173266 RCV001377582
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 SubmittersRCV000079949 RCV000631893
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	10 SubmittersRCV000079951 RCV000179397 RCV002298465 RCV004566954
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 SubmittersRCV000079954 RCV000871289 RCV001703990
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 SubmittersRCV000179838 RCV004527311
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 SubmittersRCV000179837 RCV002514405
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	Criteria Provided Multiple Submitters No Conflicts	CA275397	rs_185492864	12 SubmittersRCV000079959 RCV000179836 RCV004566955
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	SNV Germline	Chr1:100214817	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA221905	rs_398123676	7 SubmittersRCV000179839 RCV000790732 RCV001250158
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	8 SubmittersRCV000082719 RCV000674620 RCV000587204 RCV004566957
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	8 SubmittersRCV000180715 RCV001052144 RCV004566959 RCV004566958
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 SubmittersRCV000173927 RCV000790712 RCV001831887 RCV004566960
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	3 SubmittersRCV000082725 RCV000811483
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)	SNV Germline	Chr6:80129188	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA224266	rs_398124571	5 SubmittersRCV000177427 RCV001162146
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	SNV Germline	Chr6:80129228	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224273	rs_398124573	5 SubmittersRCV000177426 RCV000790829 RCV004566962
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)	SNV Germline	Chr6:80168876	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease not specified	Criteria Provided Conflicting Classifications	CA224280	rs_398124576	3 SubmittersRCV000179044 RCV002514448 RCV003317084
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)	SNV Germline	Chr6:80168899	Pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224289	rs_398124579	6 SubmittersRCV000082744 RCV000818306 RCV004566963
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 SubmittersRCV000082745 RCV001040696 RCV001831889
NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly)	SNV Germline	Chr6:80168905	Likely pathogenic	Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224298	rs_398124581	2 SubmittersRCV000179045 RCV004566964
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 SubmittersRCV000179043 RCV000790692 RCV002513854 RCV004566965
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	Criteria Provided Multiple Submitters No Conflicts	CA224304	rs_371518124	7 SubmittersRCV000082749 RCV000179047 RCV004566966
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	Criteria Provided Conflicting Classifications	CA224306	rs_371518124	4 SubmittersRCV000082750 RCV000631889 RCV002513855
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	5 SubmittersRCV000179049 RCV001202851 RCV001831890
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	SNV Germline	Chr6:80168944	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA224315	rs_149766077	8 SubmittersRCV000082753 RCV001857396 RCV001831891
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 SubmittersRCV000082760 RCV002055231
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	Criteria Provided Multiple Submitters No Conflicts	CA224330	rs_398124589	8 SubmittersRCV000179048 RCV000811119 RCV004566968
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 SubmittersRCV000723411 RCV001731370 RCV001795154
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 SubmittersRCV000180017 RCV001047777
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	SNV Germline	Chr6:80200943	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224341	rs_398124593	7 SubmittersRCV000180018 RCV000586350 RCV000790839
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)	SNV Germline	Chr6:80200990	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	CA274241	rs_398124594	7 SubmittersRCV000169389 RCV000790821 RCV001826771 RCV004566969
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 SubmittersRCV000082769 RCV003522925
NM_183050.4(BCKDHB):c.840+2T>G	SNV Germline	Chr6:80201033	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA224349	rs_398124596	3 SubmittersRCV000180019 RCV000790653
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	SNV Germline	Chr6:80203114	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	CA224353	rs_398124598	11 SubmittersRCV000169304 RCV000790747 RCV001193356 RCV004566970
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	10 SubmittersRCV000169351 RCV000790773 RCV000779833 RCV004566973
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)	SNV Germline	Chr6:80273157	Likely pathogenic	Maple syrup urine disease Condition: not provided	Criteria Provided Single Submitter	CA224365	rs_398124604	2 SubmittersRCV000346636 RCV000790833
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)	SNV Germline	Chr1:100230801	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA233879	rs_727503896	4 SubmittersRCV000153139 RCV002516075 RCV004567174
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	Criteria Provided Conflicting Classifications	CA233527	rs_727503822	4 SubmittersRCV000152850 RCV001261643 RCV004527362
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	Criteria Provided Conflicting Classifications	CA233525	rs_147021347	7 SubmittersRCV000723905 RCV001084720 RCV003162622
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)	SNV Germline	Chr1:100240810	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA275073	rs_794727262	4 SubmittersRCV000175709 RCV000724185
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 SubmittersRCV000179840 RCV003635905
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	Criteria Provided Conflicting Classifications	CA247553	rs_373390136	5 SubmittersRCV000180183 RCV000724666 RCV001078509 RCV001835710
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)	SNV Germline	Chr6:80171289	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts		rs_796051940	2 SubmittersRCV002008695 RCV004571908
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)	SNV Germline	Chr6:80273205	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA312365	rs_796051939	4 SubmittersRCV000185797 RCV000209023
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 SubmittersRCV000209016 RCV004567386
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	Criteria Provided Multiple Submitters No Conflicts	CA279886	rs_863225262	4 SubmittersRCV000202366
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 SubmittersRCV000192508 RCV000322581 RCV000756009 RCV003917747
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	Criteria Provided Conflicting Classifications	CA354910	rs_869312126	3 SubmittersRCV000209422
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	8 SubmittersRCV000209887 RCV001194035
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 SubmittersRCV000246746 RCV000901604
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 SubmittersRCV000269861 RCV000327459 RCV001828179
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys)	SNV Germline	Chr19:41419215	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA10604119	rs_886042356	2 SubmittersRCV000351654 RCV001859557
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 SubmittersRCV000372605 RCV000439344
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 SubmittersRCV000324921 RCV000419989 RCV001727704 RCV001835785
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	Criteria Provided Conflicting Classifications	CA9460973	rs_140322984	6 SubmittersRCV000302671 RCV001275905 RCV001544681 RCV003972391
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 SubmittersRCV000363085 RCV001833460
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 SubmittersRCV000396708 RCV000599925
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 SubmittersRCV000273550 RCV001833461
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	Criteria Provided Conflicting Classifications	CA9461400	rs_374403946	5 SubmittersRCV000306729 RCV001705494 RCV002348073
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)	SNV Germline	Chr1:100216030	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA16040653	rs_201559874	3 SubmittersRCV000409585 RCV004567878
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 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA3902601	rs_776631396	7 SubmittersRCV000410485 RCV001828375 RCV004567884
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)	SNV Germline	Chr6:80168884	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA16041095	rs_1057516799	6 SubmittersRCV000409047 RCV000780960
NM_183050.4(BCKDHB):c.840+1G>A	SNV Germline	Chr6:80201032	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA16041097	rs_760538465	2 SubmittersRCV000411423
NM_183050.4(BCKDHB):c.840+1G>T	SNV Germline	Chr6:80201032	Pathogenic	Maple syrup urine disease Condition: not provided	Criteria Provided Single Submitter	CA3902769	rs_760538465	2 SubmittersRCV000411637 RCV000578568
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	4 SubmittersRCV000409408 RCV004567877
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)	SNV Germline	Chr6:80171285	Likely pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Single Submitter	CA16604994	rs_994415333	2 SubmittersRCV000429032 RCV000675115
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	Criteria Provided Conflicting Classifications	CA341343716	rs_1131691488	4 SubmittersRCV000493274 RCV000984157
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	Criteria Provided Conflicting Classifications	CA365009178	rs_1554205541	8 SubmittersRCV000498242 RCV000530607 RCV003419842
NM_000709.4(BCKDHA):c.647-1G>C	SNV Germline	Chr19:41422163	Pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA9461229	rs_753216964	7 SubmittersRCV000498679 RCV000670031
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 SubmittersRCV000497494 RCV000587694 RCV000668125
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 SubmittersRCV000503792 RCV003488640 RCV004568642
NM_183050.4(BCKDHB):c.275-2A>G	SNV Germline	Chr6:80129159	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA364659123	rs_1554184224	3 SubmittersRCV000523329 RCV000671012
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	SNV Germline	Chr1:100214884	Conflicting classifications of pathogenicity	Maple syrup urine disease not specified	Criteria Provided Conflicting Classifications	CA341337383	rs_775808731	4 SubmittersRCV000535685 RCV001844190
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)	SNV Germline	Chr6:80168900	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA364657743	rs_749033513	5 SubmittersRCV000553115 RCV001829563
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 SubmittersRCV000526694 RCV001834747
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 SubmittersRCV000549241 RCV001536367
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	Criteria Provided Multiple Submitters No Conflicts	CA3902600	rs_751953459	9 SubmittersRCV000589594 RCV000732154 RCV001796129 RCV001814191 RCV004568308
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 SubmittersRCV000592741 RCV001379040 RCV001829666
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 SubmittersRCV000600235 RCV000876184 RCV003915762
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 SubmittersRCV000615226 RCV000948473 RCV002331080 RCV003905639
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 SubmittersRCV000606989 RCV002529613 RCV003905614
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 SubmittersRCV000625823 RCV002271540
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	Conflicting classifications of pathogenicity	Maple syrup urine disease not specified Maple syrup urine disease type 1B	Criteria Provided Conflicting Classifications	CA142284037	rs_79761867	4 SubmittersRCV000631894 RCV002265827 RCV004568374
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 1A	Criteria Provided Conflicting Classifications		rs_1449113689	5 SubmittersRCV000668260 RCV004526740 RCV004568514
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)	SNV Germline	Chr1:100206459	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications		rs_1553229654	2 SubmittersRCV000666706
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	SNV Germline	Chr1:100196322	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications		rs_1553228626	2 SubmittersRCV000673281
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	SNV Germline	Chr1:100196304	Conflicting classifications of pathogenicity	Maple syrup urine disease Condition: not provided	Criteria Provided Conflicting Classifications		rs_767760099	3 SubmittersRCV000669588 RCV000760490
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	Criteria Provided Conflicting Classifications		rs_768389398	5 SubmittersRCV000670216 RCV001092053 RCV001797779
NM_001918.5(DBT):c.788T>C (p.Met263Thr)	SNV Germline	Chr1:100214968	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications		rs_1553230703	2 SubmittersRCV000667766
NM_001918.5(DBT):c.555+1G>A	SNV Unknown	Chr1:100218625	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1553231037	1 SubmittersRCV000671865
NM_001918.5(DBT):c.434-1G>A	SNV Germline	Chr1:100218748	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_754004231	2 SubmittersRCV000666893
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	SNV Germline	Chr1:100196361	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications		rs_749366506	3 SubmittersRCV000672644
NM_001918.5(DBT):c.1017G>A (p.Lys339=)	SNV Germline	Chr1:100210694	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications		rs_1490661508	3 SubmittersRCV000665137 RCV004568490
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		rs_1553230841	4 SubmittersRCV000673717 RCV004568559
NM_183050.4(BCKDHB):c.633+1G>C	SNV Unknown	Chr6:80169031	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_398124589	1 SubmittersRCV000665584
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		rs_1554205499	3 SubmittersRCV000665340 RCV004568491
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)	SNV Germline	Chr6:80343774	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_190867671	4 SubmittersRCV000668675
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)	SNV Germline	Chr6:80106694	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts		rs_1005542482	3 SubmittersRCV000666521 RCV003987655
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	SNV Germline	Chr6:80106862	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554181192	3 SubmittersRCV000671817
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)	SNV Germline	Chr6:80106874	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_774916970	2 SubmittersRCV000673646
NM_183050.4(BCKDHB):c.196+1G>T	SNV Unknown	Chr6:80106890	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1554181203	1 SubmittersRCV000672948
NM_183050.4(BCKDHB):c.841-1G>C	SNV Germline	Chr6:80203101	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_962489830	2 SubmittersRCV000666534
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	SNV Germline	Chr6:80273171	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_1224101411	4 SubmittersRCV000673516
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		rs_1304667430	3 SubmittersRCV000672025 RCV004568547
NM_183050.4(BCKDHB):c.742+1G>A	SNV Germline	Chr6:80171391	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554190322	2 SubmittersRCV000672647
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)	SNV Germline	Chr6:80106695	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_940391887	2 SubmittersRCV000669039
NM_183050.4(BCKDHB):c.196+1G>C	SNV Unknown	Chr6:80106890	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554181203	2 SubmittersRCV000672543
NM_183050.4(BCKDHB):c.343+2T>G	SNV Germline	Chr6:80129231	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_1554184237	2 SubmittersRCV000672452
NM_183050.4(BCKDHB):c.633+1G>T	SNV Germline	Chr6:80169031	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts		rs_398124589	4 SubmittersRCV000669008 RCV001829852
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	SNV Germline	Chr6:80343784	Pathogenic	Maple syrup urine disease BCKDHB-related disorder Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts		rs_751599203	7 SubmittersRCV000671826 RCV003403562 RCV004568543
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)	SNV Germline	Chr19:41414148	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications		rs_769688327	2 SubmittersRCV000669276
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	SNV Germline	Chr19:41422274	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts		rs_199599175	4 SubmittersRCV000674422 RCV001835912
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		rs_764247545	7 SubmittersRCV000669536 RCV001829858
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		rs_145901144	5 SubmittersRCV000671303 RCV003323673 RCV004568541
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)	SNV Germline	Chr19:41423121	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_765543886	4 SubmittersRCV000673741
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)	SNV Unknown	Chr19:41397830	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1555764014	1 SubmittersRCV000672105
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)	SNV Germline	Chr19:41422311	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications		rs_761996996	2 SubmittersRCV000672950
NM_000709.4(BCKDHA):c.853+1G>T	SNV Unknown	Chr19:41422371	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1555767028	1 SubmittersRCV000669354
NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter)	SNV Unknown	Chr19:41424462	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_201168715	1 SubmittersRCV000669226
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	SNV Germline	Chr19:41410655	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_374625613	4 SubmittersRCV000665755
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		rs_942815730	4 SubmittersRCV000674875 RCV004568570
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter)	SNV Germline	Chr6:80168961	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts		rs_774306610	3 SubmittersRCV000704171 RCV001825391
NM_000709.4(BCKDHA):c.108+5G>C	SNV Germline	Chr19:41397940	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1568499702	1 SubmittersRCV000694889
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	Criteria Provided Conflicting Classifications		rs_147719822	5 SubmittersRCV000755846 RCV001080961 RCV003955490
NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr)	SNV Unknown	Chr6:80343770	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		rs_1568503938	1 SubmittersRCV000761534
NM_001918.5(DBT):c.1281+1G>T	SNV Unknown	Chr1:100206229	Pathogenic	Maple syrup urine disease type 1A	Criteria Provided Single Submitter		rs_1557943881	1 SubmittersRCV004577341
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr19:41423071	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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	Criteria Provided Conflicting Classifications		rs_368567109	4 SubmittersRCV000806773 RCV001830757 RCV002534833
NM_152542.5(PPM1K):c.542-3T>C	SNV Germline	Chr4:88268909	Conflicting classifications of pathogenicity	Maple syrup urine disease, mild variant PPM1K-related disorder	Criteria Provided Conflicting Classifications		rs_534271377	2 SubmittersRCV000811537 RCV003928281
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	Criteria Provided Conflicting Classifications		rs_137960127	4 SubmittersRCV000872380 RCV001273308
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		rs_142858149	3 SubmittersRCV000973810 RCV001273119
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		rs_143427811	5 SubmittersRCV000973811 RCV001273120 RCV003928566
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)	SNV Germline	Chr19:41410928	Conflicting classifications of pathogenicity	Maple syrup urine disease type 1A Maple syrup urine disease BCKDHA-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_142967869	6 SubmittersRCV001273303 RCV000880930 RCV003955819 RCV002434172
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		rs_533707792	2 SubmittersRCV000902742 RCV004028532
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		rs_201366184	4 SubmittersRCV000898091 RCV001273304
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		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		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		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	Criteria Provided Conflicting Classifications		rs_532803527	3 SubmittersRCV000996931 RCV001471532
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)	SNV Germline	Chr19:41422170	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_2039372961	1 SubmittersRCV001035319
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		rs_762419044	3 SubmittersRCV001067446 RCV001827439
NM_183050.4(BCKDHB):c.343+1G>C	SNV Germline	Chr6:80129230	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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		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		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		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		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		rs_1005542482	4 SubmittersRCV001174774 RCV001836126
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		rs_371117671	5 SubmittersRCV001193355 RCV001218214 RCV004570408
NM_000709.4(BCKDHA):c.1168-1G>A	SNV Germline	Chr19:41424437	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_2039405116	2 SubmittersRCV001197612
NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter)	SNV Germline	Chr6:80171306	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1772902148	1 SubmittersRCV001224152
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		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		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		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		rs_1214763792	3 SubmittersRCV001204854
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)	SNV Germline	Chr19:41411001	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_2039247540	1 SubmittersRCV001235560
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		rs_756647770	2 SubmittersRCV001232495 RCV004570581
NM_001918.5(DBT):c.1281+5A>G	SNV Germline	Chr1:100206225	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases not specified DBT-related disorder	Criteria Provided Conflicting Classifications		rs_199571242	5 SubmittersRCV001240490 RCV002563975 RCV003398997 RCV003973159
NM_000709.4(BCKDHA):c.1167+1G>C	SNV Germline	Chr19:41423170	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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		rs_200638406	2 SubmittersRCV001255379 RCV004570647
NM_001918.5(DBT):c.1209+1G>A	SNV Germline	Chr1:100206444	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1661795778	1 SubmittersRCV001255380
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)	SNV Germline	Chr19:41422257	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_1468416468	2 SubmittersRCV001262490
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter)	SNV Unknown	Chr1:100206446	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		rs_1662088383	3 SubmittersRCV001263639 RCV004570653
NM_001918.5(DBT):c.298G>T (p.Glu100Ter)	SNV Unknown	Chr1:100230868	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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		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		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		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		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		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		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		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		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		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		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		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		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		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		rs_1303770209	3 SubmittersRCV001263562 RCV004570652
NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter)	SNV Unknown	Chr19:41422706	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_2039381583	1 SubmittersRCV001263563
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)	SNV Germline	Chr6:80167744	Conflicting classifications of pathogenicity	not specified Maple syrup urine disease	Criteria Provided Conflicting Classifications		rs_776631396	3 SubmittersRCV001328417 RCV001381550
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		rs_2039383036	2 SubmittersRCV002642394 RCV004571195
NM_001918.5(DBT):c.1281+1G>C	SNV Germline	Chr1:100206229	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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		rs_755914063	2 SubmittersRCV001379105
NM_000709.4(BCKDHA):c.109-1G>A	SNV Germline	Chr19:41410636	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_2123253583	1 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		rs_761996996	3 SubmittersRCV001376744 RCV002265026 RCV004570920
NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu)	SNV Germline	Chr19:41424497	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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		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		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		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		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		rs_769659202	2 SubmittersRCV001414007 RCV004038111
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		rs_143065803	2 SubmittersRCV001442175 RCV002555591
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		rs_776490043	2 SubmittersRCV001653038 RCV003523103
NM_001918.5(DBT):c.52-1G>C	SNV Germline	Chr1:100240885	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_755914063	1 SubmittersRCV001780609
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	SNV Germline	Chr19:41422164	Pathogenic/Likely pathogenic	Maple syrup urine disease BCKDHA-related disorder Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts		rs_369448982	5 SubmittersRCV001780680 RCV003892844 RCV004571095
NM_001918.5(DBT):c.1196C>G (p.Ser399Cys)	SNV Germline	Chr1:100206458	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		rs_764247545	3 SubmittersRCV001810551 RCV004571110
NM_000709.4(BCKDHA):c.484+1G>A	SNV Germline	Chr19:41414158	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		rs_2100797134	4 SubmittersRCV001840964 RCV002543269
NM_001918.5(DBT):c.820C>A (p.Pro274Thr)	SNV Germline	Chr1:100214936	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_1310427311	1 SubmittersRCV001843390
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)	SNV Germline	Chr19:41424582	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_137852870	2 SubmittersRCV001848605
NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter)	SNV Germline	Chr6:80171315	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		rs_1328608014	1 SubmittersRCV001941750
NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr)	SNV Germline	Chr19:41422325	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_765045050	2 SubmittersRCV002040176
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		rs_759312184	2 SubmittersRCV001949316 RCV003235637
NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln)	SNV Germline	Chr19:41411005	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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		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		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		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		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		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		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		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		rs_1207966026	1 SubmittersRCV001951278
NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp)	SNV Germline	Chr19:41422756	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_2039382789	1 SubmittersRCV002020620
NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys)	SNV Germline	Chr19:41422262	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		rs_1002472211	2 SubmittersRCV001972711 RCV004571739
NM_001918.5(DBT):c.304C>T (p.Gln102Ter)	SNV Germline	Chr1:100230862	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		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		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		rs_2127965290	2 SubmittersRCV002033600
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)	SNV Germline	Chr1:100196319	Pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_750594890	4 SubmittersRCV001918341
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	Criteria Provided Multiple Submitters No Conflicts		rs_774472182	2 SubmittersRCV001918259 RCV004571587
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		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		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		rs_1213596075	1 SubmittersRCV002043878
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)	SNV Germline	Chr19:41422293	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_2122143393	1 SubmittersRCV002024792
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		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		rs_887411374	2 SubmittersRCV002248980
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)	SNV Germline	Chr19:41414127	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_2122122610	2 SubmittersRCV002249293
NM_183050.4(BCKDHB):c.1039-2A>G	SNV Germline	Chr6:80343662	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter		rs_2128020522	1 SubmittersRCV002249294
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr)	SNV Germline	Chr6:80273174	Likely pathogenic	Condition: not provided Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts		rs_1777825845	2 SubmittersRCV002254500 RCV003094176
NM_000709.4(BCKDHA):c.996-26A>G	SNV Germline	Chr19:41422972	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications		rs_757986569	3 SubmittersRCV002274682 RCV003096179 RCV004572113
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			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			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			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			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			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			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			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			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			2 SubmittersRCV003060066 RCV004572723
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)	SNV Germline	Chr19:41422317	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV003064585
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			2 SubmittersRCV003061178 RCV004572740
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)	SNV Germline	Chr1:100206252	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003087431
NM_000709.4(BCKDHA):c.853+2T>C	SNV Germline	Chr19:41422372	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002579160
NM_001918.5(DBT):c.182G>A (p.Arg61His)	SNV Germline	Chr1:100235505	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003092610 RCV004073091
NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)	SNV Germline	Chr19:41419216	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV002621450
NM_001918.5(DBT):c.1210-1G>C	SNV Germline	Chr1:100206302	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV002618811
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)	SNV Germline	Chr19:41419157	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002736209
NM_183050.4(BCKDHB):c.197-2A>C	SNV Germline	Chr6:80127545	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV002834329
NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)	SNV Germline	Chr6:80168982	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV002837888
NM_183050.4(BCKDHB):c.197-1G>C	SNV Germline	Chr6:80127546	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			2 SubmittersRCV002858548 RCV003223763
NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly)	SNV Germline	Chr19:41422680	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			2 SubmittersRCV002928553 RCV003308349
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)	SNV Germline	Chr1:100214884	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV002928850
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)	SNV Germline	Chr1:100216174	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV002996120
NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)	SNV Germline	Chr19:41422165	Conflicting classifications of pathogenicity	Maple syrup urine disease BCKDHA-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002994237 RCV003943700
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)	SNV Germline	Chr19:41410805	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			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			2 SubmittersRCV003155795
NM_001918.5(DBT):c.434-1G>C	SNV Germline	Chr1:100218748	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003317816
NM_001918.5(DBT):c.51+1G>C	SNV Germline	Chr1:100249769	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications			2 SubmittersRCV003445371
NM_000709.4(BCKDHA):c.993C>G (p.Tyr331Ter)	SNV Unknown	Chr19:41422768	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			3 SubmittersRCV003465151 RCV003488802 RCV004574039
NM_000709.4(BCKDHA):c.376-1G>A	SNV Unknown	Chr19:41414048	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003465153
NM_000709.4(BCKDHA):c.376-2A>G	SNV Germline	Chr19:41414047	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003465154
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			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			1 SubmittersRCV003465157
NM_000709.4(BCKDHA):c.996-1G>A	SNV Unknown	Chr19:41422997	Likely pathogenic	Maple syrup urine disease type 1A	Criteria Provided Single Submitter			1 SubmittersRCV004574040
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)	SNV Unknown	Chr19:41419179	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003465164
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)	SNV Germline	Chr6:80201009	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003465166
NM_183050.4(BCKDHB):c.633+2T>C	SNV Unknown	Chr6:80169032	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			2 SubmittersRCV003465175 RCV004574046
NM_183050.4(BCKDHB):c.831G>A (p.Trp277Ter)	SNV Unknown	Chr6:80201022	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003465176
NM_183050.4(BCKDHB):c.275-1G>A	SNV Unknown	Chr6:80129160	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003465178
NM_183050.4(BCKDHB):c.196+1G>A	SNV Unknown	Chr6:80106890	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003474337
NM_001918.5(DBT):c.252-2A>T	SNV Unknown	Chr1:100230916	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003466103
NM_001918.5(DBT):c.252-2A>G	SNV Unknown	Chr1:100230916	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003466104
NM_001918.5(DBT):c.394G>A (p.Gly132Arg)	SNV Unknown	Chr1:100230772	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003466106
NM_001918.5(DBT):c.1274C>A (p.Ser425Ter)	SNV Unknown	Chr1:100206237	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			2 SubmittersRCV003989846 RCV004574032
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)	SNV Unknown	Chr1:100206522	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			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			2 SubmittersRCV003523262 RCV004574056
NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter)	SNV Germline	Chr6:80106888	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003522236
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)	SNV Germline	Chr19:41410953	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003524117
NM_000709.4(BCKDHA):c.995+2T>C	SNV Germline	Chr19:41422772	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003524329
NM_000709.4(BCKDHA):c.853+1G>C	SNV Germline	Chr19:41422371	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003522340
NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)	SNV Germline	Chr6:80343667	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			1 SubmittersRCV003523581
NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter)	SNV Germline	Chr6:80171369	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003525293
NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)	SNV Germline	Chr6:80106761	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003524770
NM_001918.5(DBT):c.1018-2A>T	SNV Germline	Chr1:100206638	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003522766
NM_001918.5(DBT):c.772+2T>G	SNV Germline	Chr1:100215981	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003522615
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)	SNV Germline	Chr1:100218744	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003522896
NM_000709.4(BCKDHA):c.375+1G>A	SNV Germline	Chr19:41411010	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003636350
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)	SNV Germline	Chr19:41423123	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637121
NM_183050.4(BCKDHB):c.841-2A>G	SNV Germline	Chr6:80203100	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637084
NM_183050.4(BCKDHB):c.274+1G>T	SNV Germline	Chr6:80127625	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637221
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)	SNV Germline	Chr1:100230886	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637243
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)	SNV Germline	Chr19:41410952	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637296
NM_000709.4(BCKDHA):c.375+2T>G	SNV Germline	Chr19:41411011	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637812
NM_001918.5(DBT):c.1017+1G>T	SNV Germline	Chr1:100210693	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637627
NM_001918.5(DBT):c.1017+1G>A	SNV Germline	Chr1:100210693	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637726
NM_183050.4(BCKDHB):c.274+2T>C	SNV Germline	Chr6:80127626	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003637856
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)	SNV Germline	Chr1:100214875	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			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			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			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			1 SubmittersRCV003823298
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)	SNV Germline	Chr19:41397882	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003838017
NM_183050.4(BCKDHB):c.841-1G>T	SNV Germline	Chr6:80203101	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003855619
NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)	SNV Germline	Chr6:80203193	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV003865727
NM_001918.5(DBT):c.30G>A (p.Trp10Ter)	SNV Germline	Chr1:100249791	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV003988751
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			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			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			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			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			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			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			1 SubmittersRCV004575398

NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)

SNV
Germline

Chr19:41424582

Pathogenic/Likely pathogenic

Condition: not provided
Maple syrup urine disease type 1A
Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115507

rs_137852870

19 SubmittersRCV000079229 RCV000002473 RCV000055825 RCV002514533

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 SubmittersRCV000179775 RCV000790729 RCV001175041

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

Pathogenic/Likely pathogenic

Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA115512

rs_137852873

7 SubmittersRCV000393620 RCV001379690 RCV004566672

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

4 SubmittersRCV001064270 RCV001818118 RCV004566673

NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)

SNV
Germline

Chr19:41422704

Pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA115518

rs_137852875

3 SubmittersRCV000179776 RCV002222336

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 SubmittersRCV000056008 RCV000082754 RCV000589206 RCV002512989 RCV004566721

NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr)

SNV
Germline

Chr6:80169013

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

CA121791

rs_121965004

2 SubmittersRCV003460460 RCV003534309

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
Maple syrup urine disease type 2
See cases
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA121797

rs_121964999

13 SubmittersRCV000079957 RCV000179835 RCV003581558 RCV002251898 RCV004566722

NM_001918.5(DBT):c.1018-550A>G

SNV
Germline

Chr1:100207186

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 2
Maple syrup urine disease type 1A
DBT-related disorder

Criteria Provided
Conflicting Classifications

CA212933

rs_796052135

7 SubmittersRCV000668558 RCV003581560 RCV004566723 RCV003415688

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/Likely pathogenic

Maple syrup urine disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224253

rs_386834234

4 SubmittersRCV000056007 RCV000790721

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224347

rs_386834233

15 SubmittersRCV000056009 RCV000587416 RCV000762424 RCV004566908

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

Criteria Provided
Conflicting Classifications

CA221176

rs_182923857

5 SubmittersRCV000180181 RCV000790743 RCV004566947

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 SubmittersRCV000180182 RCV000790816 RCV004566948

NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)

SNV
Germline

Chr19:41424504

Pathogenic/Likely pathogenic

Maple syrup urine disease
Inborn genetic diseases
Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221182

rs_398123490

12 SubmittersRCV000180522 RCV002514392 RCV000790815 RCV000853374

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 SubmittersRCV000079232 RCV001409643

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 SubmittersRCV000079233 RCV000175639 RCV001275909

NM_000709.4(BCKDHA):c.288+9C>T

SNV
Germline

Chr19:41410825

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221193

rs_398123497

8 SubmittersRCV000175638 RCV001275910 RCV000790795

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 SubmittersRCV000270845 RCV000723410 RCV001273301 RCV002514393 RCV003964923

NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly)

SNV
Germline

Chr19:41410981

Likely pathogenic

Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221196

rs_398123498

5 SubmittersRCV000079236 RCV001283813 RCV003987352

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 SubmittersRCV000177087 RCV001854398 RCV004566950

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 SubmittersRCV000079245 RCV001795082

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 SubmittersRCV000178794 RCV000790699 RCV003982876

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 SubmittersRCV000179335 RCV000790736 RCV001831820

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 SubmittersRCV000079250 RCV001089235 RCV003298133 RCV003894931

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 SubmittersRCV000338131 RCV000723409 RCV001273306 RCV003298134

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

4 SubmittersRCV000179338 RCV000819695 RCV004566951

NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)

SNV
Germline

Chr19:41422370

Pathogenic/Likely pathogenic

Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221220

rs_398123508

9 SubmittersRCV000179337 RCV000079257 RCV001275916

NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)

SNV
Germline

Chr19:41422665

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease type 1A
Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA221222

rs_200137189

6 SubmittersRCV000079259 RCV004566952 RCV000664897

NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)

SNV
Germline

Chr19:41422680

Pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221224

rs_398123509

5 SubmittersRCV000179780 RCV001283857

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 SubmittersRCV000179777 RCV001854399

NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)

SNV
Germline

Chr19:41422753

Conflicting classifications of pathogenicity

not specified
Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA221232

rs_398123514

5 SubmittersRCV000079268 RCV001079760 RCV000723468 RCV001826715

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

8 SubmittersRCV000179779 RCV000790719 RCV001275918

NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)

SNV
Germline

Chr1:100196413

Pathogenic/Likely pathogenic

Maple syrup urine disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221874

rs_398123660

6 SubmittersRCV000174059 RCV000790685

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 SubmittersRCV000079935 RCV000280987 RCV003935037

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 SubmittersRCV000079936 RCV000702839

NM_001918.5(DBT):c.51+1G>T

SNV
Germline

Chr1:100249769

Pathogenic/Likely pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA221891

rs_398123669

3 SubmittersRCV000173266 RCV001377582

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 SubmittersRCV000079949 RCV000631893

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

10 SubmittersRCV000079951 RCV000179397 RCV002298465 RCV004566954

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 SubmittersRCV000079954 RCV000871289 RCV001703990

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 SubmittersRCV000179838 RCV004527311

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 SubmittersRCV000179837 RCV002514405

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275397

rs_185492864

12 SubmittersRCV000079959 RCV000179836 RCV004566955

NM_001918.5(DBT):c.939G>C (p.Lys313Asn)

SNV
Germline

Chr1:100214817

Pathogenic/Likely pathogenic

Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA221905

rs_398123676

7 SubmittersRCV000179839 RCV000790732 RCV001250158

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

8 SubmittersRCV000082719 RCV000674620 RCV000587204 RCV004566957

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

8 SubmittersRCV000180715 RCV001052144 RCV004566959 RCV004566958

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 SubmittersRCV000173927 RCV000790712 RCV001831887 RCV004566960

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

3 SubmittersRCV000082725 RCV000811483

NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)

SNV
Germline

Chr6:80129188

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA224266

rs_398124571

5 SubmittersRCV000177427 RCV001162146

NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)

SNV
Germline

Chr6:80129228

Pathogenic/Likely pathogenic

Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA224273

rs_398124573

5 SubmittersRCV000177426 RCV000790829 RCV004566962

NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)

SNV
Germline

Chr6:80168876

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
not specified

Criteria Provided
Conflicting Classifications

CA224280

rs_398124576

3 SubmittersRCV000179044 RCV002514448 RCV003317084

NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)

SNV
Germline

Chr6:80168899

Pathogenic

Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA224289

rs_398124579

6 SubmittersRCV000082744 RCV000818306 RCV004566963

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 SubmittersRCV000082745 RCV001040696 RCV001831889

NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly)

SNV
Germline

Chr6:80168905

Likely pathogenic

Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA224298

rs_398124581

2 SubmittersRCV000179045 RCV004566964

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 SubmittersRCV000179043 RCV000790692 RCV002513854 RCV004566965

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224304

rs_371518124

7 SubmittersRCV000082749 RCV000179047 RCV004566966

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

Criteria Provided
Conflicting Classifications

CA224306

rs_371518124

4 SubmittersRCV000082750 RCV000631889 RCV002513855

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

5 SubmittersRCV000179049 RCV001202851 RCV001831890

NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)

SNV
Germline

Chr6:80168944

Pathogenic/Likely pathogenic

Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA224315

rs_149766077

8 SubmittersRCV000082753 RCV001857396 RCV001831891

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 SubmittersRCV000082760 RCV002055231

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224330

rs_398124589

8 SubmittersRCV000179048 RCV000811119 RCV004566968

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 SubmittersRCV000723411 RCV001731370 RCV001795154

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 SubmittersRCV000180017 RCV001047777

NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)

SNV
Germline

Chr6:80200943

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224341

rs_398124593

7 SubmittersRCV000180018 RCV000586350 RCV000790839

NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)

SNV
Germline

Chr6:80200990

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

CA274241

rs_398124594

7 SubmittersRCV000169389 RCV000790821 RCV001826771 RCV004566969

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 SubmittersRCV000082769 RCV003522925

NM_183050.4(BCKDHB):c.840+2T>G

SNV
Germline

Chr6:80201033

Pathogenic/Likely pathogenic

Maple syrup urine disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA224349

rs_398124596

3 SubmittersRCV000180019 RCV000790653

NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)

SNV
Germline

Chr6:80203114

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

CA224353

rs_398124598

11 SubmittersRCV000169304 RCV000790747 RCV001193356 RCV004566970

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

10 SubmittersRCV000169351 RCV000790773 RCV000779833 RCV004566973

NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)

SNV
Germline

Chr6:80273157

Likely pathogenic

Maple syrup urine disease
Condition: not provided

Criteria Provided
Single Submitter

CA224365

rs_398124604

2 SubmittersRCV000346636 RCV000790833

NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)

SNV
Germline

Chr1:100230801

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA233879

rs_727503896

4 SubmittersRCV000153139 RCV002516075 RCV004567174

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

Criteria Provided
Conflicting Classifications

CA233527

rs_727503822

4 SubmittersRCV000152850 RCV001261643 RCV004527362

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

Criteria Provided
Conflicting Classifications

CA233525

rs_147021347

7 SubmittersRCV000723905 RCV001084720 RCV003162622

NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)

SNV
Germline

Chr1:100240810

Pathogenic/Likely pathogenic

Maple syrup urine disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA275073

rs_794727262

4 SubmittersRCV000175709 RCV000724185

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 SubmittersRCV000179840 RCV003635905

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

Criteria Provided
Conflicting Classifications

CA247553

rs_373390136

5 SubmittersRCV000180183 RCV000724666 RCV001078509 RCV001835710

NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)

SNV
Germline

Chr6:80171289

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_796051940

2 SubmittersRCV002008695 RCV004571908

NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)

SNV
Germline

Chr6:80273205

Pathogenic/Likely pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA312365

rs_796051939

4 SubmittersRCV000185797 RCV000209023

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 SubmittersRCV000209016 RCV004567386

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279886

rs_863225262

4 SubmittersRCV000202366

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 SubmittersRCV000192508 RCV000322581 RCV000756009 RCV003917747

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

Criteria Provided
Conflicting Classifications

CA354910

rs_869312126

3 SubmittersRCV000209422

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

8 SubmittersRCV000209887 RCV001194035

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 SubmittersRCV000246746 RCV000901604

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 SubmittersRCV000269861 RCV000327459 RCV001828179

NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys)

SNV
Germline

Chr19:41419215

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA10604119

rs_886042356

2 SubmittersRCV000351654 RCV001859557

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 SubmittersRCV000372605 RCV000439344

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 SubmittersRCV000324921 RCV000419989 RCV001727704 RCV001835785

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

Criteria Provided
Conflicting Classifications

CA9460973

rs_140322984

6 SubmittersRCV000302671 RCV001275905 RCV001544681 RCV003972391

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 SubmittersRCV000363085 RCV001833460

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 SubmittersRCV000396708 RCV000599925

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 SubmittersRCV000273550 RCV001833461

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

Criteria Provided
Conflicting Classifications

CA9461400

rs_374403946

5 SubmittersRCV000306729 RCV001705494 RCV002348073

NM_001918.5(DBT):c.725C>G (p.Ser242Ter)

SNV
Germline

Chr1:100216030

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16040653

rs_201559874

3 SubmittersRCV000409585 RCV004567878

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 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA3902601

rs_776631396

7 SubmittersRCV000410485 RCV001828375 RCV004567884

NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)

SNV
Germline

Chr6:80168884

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA16041095

rs_1057516799

6 SubmittersRCV000409047 RCV000780960

NM_183050.4(BCKDHB):c.840+1G>A

SNV
Germline

Chr6:80201032

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA16041097

rs_760538465

2 SubmittersRCV000411423

NM_183050.4(BCKDHB):c.840+1G>T

SNV
Germline

Chr6:80201032

Pathogenic

Maple syrup urine disease
Condition: not provided

Criteria Provided
Single Submitter

CA3902769

rs_760538465

2 SubmittersRCV000411637 RCV000578568

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

4 SubmittersRCV000409408 RCV004567877

NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)

SNV
Germline

Chr6:80171285

Likely pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Single Submitter

CA16604994

rs_994415333

2 SubmittersRCV000429032 RCV000675115

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

Criteria Provided
Conflicting Classifications

CA341343716

rs_1131691488

4 SubmittersRCV000493274 RCV000984157

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

Criteria Provided
Conflicting Classifications

CA365009178

rs_1554205541

8 SubmittersRCV000498242 RCV000530607 RCV003419842

NM_000709.4(BCKDHA):c.647-1G>C

SNV
Germline

Chr19:41422163

Pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA9461229

rs_753216964

7 SubmittersRCV000498679 RCV000670031

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 SubmittersRCV000497494 RCV000587694 RCV000668125

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 SubmittersRCV000503792 RCV003488640 RCV004568642

NM_183050.4(BCKDHB):c.275-2A>G

SNV
Germline

Chr6:80129159

Pathogenic/Likely pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364659123

rs_1554184224

3 SubmittersRCV000523329 RCV000671012

NM_001918.5(DBT):c.872G>T (p.Arg291Leu)

SNV
Germline

Chr1:100214884

Conflicting classifications of pathogenicity

Maple syrup urine disease
not specified

Criteria Provided
Conflicting Classifications

CA341337383

rs_775808731

4 SubmittersRCV000535685 RCV001844190

NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)

SNV
Germline

Chr6:80168900

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA364657743

rs_749033513

5 SubmittersRCV000553115 RCV001829563

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 SubmittersRCV000526694 RCV001834747

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 SubmittersRCV000549241 RCV001536367

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3902600

rs_751953459

9 SubmittersRCV000589594 RCV000732154 RCV001796129 RCV001814191 RCV004568308

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 SubmittersRCV000592741 RCV001379040 RCV001829666

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 SubmittersRCV000600235 RCV000876184 RCV003915762

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 SubmittersRCV000615226 RCV000948473 RCV002331080 RCV003905639

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 SubmittersRCV000606989 RCV002529613 RCV003905614

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 SubmittersRCV000625823 RCV002271540

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

Conflicting classifications of pathogenicity

Maple syrup urine disease
not specified
Maple syrup urine disease type 1B

Criteria Provided
Conflicting Classifications

CA142284037

rs_79761867

4 SubmittersRCV000631894 RCV002265827 RCV004568374

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 1A

Criteria Provided
Conflicting Classifications

rs_1449113689

5 SubmittersRCV000668260 RCV004526740 RCV004568514

NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)

SNV
Germline

Chr1:100206459

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

rs_1553229654

2 SubmittersRCV000666706

NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)

SNV
Germline

Chr1:100196322

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

rs_1553228626

2 SubmittersRCV000673281

NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)

SNV
Germline

Chr1:100196304

Conflicting classifications of pathogenicity

Maple syrup urine disease
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_767760099

3 SubmittersRCV000669588 RCV000760490

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

Criteria Provided
Conflicting Classifications

rs_768389398

5 SubmittersRCV000670216 RCV001092053 RCV001797779

NM_001918.5(DBT):c.788T>C (p.Met263Thr)

SNV
Germline

Chr1:100214968

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

rs_1553230703

2 SubmittersRCV000667766

NM_001918.5(DBT):c.555+1G>A

SNV
Unknown

Chr1:100218625

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1553231037

1 SubmittersRCV000671865

NM_001918.5(DBT):c.434-1G>A

SNV
Germline

Chr1:100218748

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_754004231

2 SubmittersRCV000666893

NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)

SNV
Germline

Chr1:100196361

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

rs_749366506

3 SubmittersRCV000672644

NM_001918.5(DBT):c.1017G>A (p.Lys339=)

SNV
Germline

Chr1:100210694

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

rs_1490661508

3 SubmittersRCV000665137 RCV004568490

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

rs_1553230841

4 SubmittersRCV000673717 RCV004568559

NM_183050.4(BCKDHB):c.633+1G>C

SNV
Unknown

Chr6:80169031

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_398124589

1 SubmittersRCV000665584

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

rs_1554205499

3 SubmittersRCV000665340 RCV004568491

NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)

SNV
Germline

Chr6:80343774

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_190867671

4 SubmittersRCV000668675

NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)

SNV
Germline

Chr6:80106694

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

rs_1005542482

3 SubmittersRCV000666521 RCV003987655

NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)

SNV
Germline

Chr6:80106862

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554181192

3 SubmittersRCV000671817

NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)

SNV
Germline

Chr6:80106874

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_774916970

2 SubmittersRCV000673646

NM_183050.4(BCKDHB):c.196+1G>T

SNV
Unknown

Chr6:80106890

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1554181203

1 SubmittersRCV000672948

NM_183050.4(BCKDHB):c.841-1G>C

SNV
Germline

Chr6:80203101

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_962489830

2 SubmittersRCV000666534

NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)

SNV
Germline

Chr6:80273171

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1224101411

4 SubmittersRCV000673516

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

rs_1304667430

3 SubmittersRCV000672025 RCV004568547

NM_183050.4(BCKDHB):c.742+1G>A

SNV
Germline

Chr6:80171391

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554190322

2 SubmittersRCV000672647

NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)

SNV
Germline

Chr6:80106695

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_940391887

2 SubmittersRCV000669039

NM_183050.4(BCKDHB):c.196+1G>C

SNV
Unknown

Chr6:80106890

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554181203

2 SubmittersRCV000672543

NM_183050.4(BCKDHB):c.343+2T>G

SNV
Germline

Chr6:80129231

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554184237

2 SubmittersRCV000672452

NM_183050.4(BCKDHB):c.633+1G>T

SNV
Germline

Chr6:80169031

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

rs_398124589

4 SubmittersRCV000669008 RCV001829852

NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)

SNV
Germline

Chr6:80343784

Pathogenic

Maple syrup urine disease
BCKDHB-related disorder
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_751599203

7 SubmittersRCV000671826 RCV003403562 RCV004568543

NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)

SNV
Germline

Chr19:41414148

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

rs_769688327

2 SubmittersRCV000669276

NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)

SNV
Germline

Chr19:41422274

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_199599175

4 SubmittersRCV000674422 RCV001835912

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

rs_764247545

7 SubmittersRCV000669536 RCV001829858

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

rs_145901144

5 SubmittersRCV000671303 RCV003323673 RCV004568541

NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)

SNV
Germline

Chr19:41423121

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_765543886

4 SubmittersRCV000673741

NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr19:41397830

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1555764014

1 SubmittersRCV000672105

NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)

SNV
Germline

Chr19:41422311

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

rs_761996996

2 SubmittersRCV000672950

NM_000709.4(BCKDHA):c.853+1G>T

SNV
Unknown

Chr19:41422371

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1555767028

1 SubmittersRCV000669354

NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter)

SNV
Unknown

Chr19:41424462

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_201168715

1 SubmittersRCV000669226

NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr19:41410655

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_374625613

4 SubmittersRCV000665755

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

rs_942815730

4 SubmittersRCV000674875 RCV004568570

NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter)

SNV
Germline

Chr6:80168961

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

rs_774306610

3 SubmittersRCV000704171 RCV001825391

NM_000709.4(BCKDHA):c.108+5G>C

SNV
Germline

Chr19:41397940

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1568499702

1 SubmittersRCV000694889

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

Criteria Provided
Conflicting Classifications

rs_147719822

5 SubmittersRCV000755846 RCV001080961 RCV003955490

NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr)

SNV
Unknown

Chr6:80343770

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

rs_1568503938

1 SubmittersRCV000761534

NM_001918.5(DBT):c.1281+1G>T

SNV
Unknown

Chr1:100206229

Pathogenic

Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

rs_1557943881

1 SubmittersRCV004577341

NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr19:41423071

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

Criteria Provided
Conflicting Classifications

rs_368567109

4 SubmittersRCV000806773 RCV001830757 RCV002534833

NM_152542.5(PPM1K):c.542-3T>C

SNV
Germline

Chr4:88268909

Conflicting classifications of pathogenicity

Maple syrup urine disease, mild variant
PPM1K-related disorder

Criteria Provided
Conflicting Classifications

rs_534271377

2 SubmittersRCV000811537 RCV003928281

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

Criteria Provided
Conflicting Classifications

rs_137960127

4 SubmittersRCV000872380 RCV001273308

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

rs_142858149

3 SubmittersRCV000973810 RCV001273119

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

rs_143427811

5 SubmittersRCV000973811 RCV001273120 RCV003928566

NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)

SNV
Germline

Chr19:41410928

Conflicting classifications of pathogenicity

Maple syrup urine disease type 1A
Maple syrup urine disease
BCKDHA-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142967869

6 SubmittersRCV001273303 RCV000880930 RCV003955819 RCV002434172

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

rs_533707792

2 SubmittersRCV000902742 RCV004028532

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

rs_201366184

4 SubmittersRCV000898091 RCV001273304

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_532803527

3 SubmittersRCV000996931 RCV001471532

NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)

SNV
Germline

Chr19:41422170

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_2039372961

1 SubmittersRCV001035319

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

rs_762419044

3 SubmittersRCV001067446 RCV001827439

NM_183050.4(BCKDHB):c.343+1G>C

SNV
Germline

Chr6:80129230

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

rs_1005542482

4 SubmittersRCV001174774 RCV001836126

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

rs_371117671

5 SubmittersRCV001193355 RCV001218214 RCV004570408

NM_000709.4(BCKDHA):c.1168-1G>A

SNV
Germline

Chr19:41424437

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2039405116

2 SubmittersRCV001197612

NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter)

SNV
Germline

Chr6:80171306

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1772902148

1 SubmittersRCV001224152

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

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

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

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

rs_1214763792

3 SubmittersRCV001204854

NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)

SNV
Germline

Chr19:41411001

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_2039247540

1 SubmittersRCV001235560

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

rs_756647770

2 SubmittersRCV001232495 RCV004570581

NM_001918.5(DBT):c.1281+5A>G

SNV
Germline

Chr1:100206225

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases
not specified
DBT-related disorder

Criteria Provided
Conflicting Classifications

rs_199571242

5 SubmittersRCV001240490 RCV002563975 RCV003398997 RCV003973159

NM_000709.4(BCKDHA):c.1167+1G>C

SNV
Germline

Chr19:41423170

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

rs_200638406

2 SubmittersRCV001255379 RCV004570647

NM_001918.5(DBT):c.1209+1G>A

SNV
Germline

Chr1:100206444

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1661795778

1 SubmittersRCV001255380

NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)

SNV
Germline

Chr19:41422257

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1468416468

2 SubmittersRCV001262490

NM_001918.5(DBT):c.1208C>A (p.Ser403Ter)

SNV
Unknown

Chr1:100206446

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

rs_1662088383

3 SubmittersRCV001263639 RCV004570653

NM_001918.5(DBT):c.298G>T (p.Glu100Ter)

SNV
Unknown

Chr1:100230868

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs_1303770209

3 SubmittersRCV001263562 RCV004570652

NM_000709.4(BCKDHA):c.931A>T (p.Lys311Ter)

SNV
Unknown

Chr19:41422706

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_2039381583

1 SubmittersRCV001263563

NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)

SNV
Germline

Chr6:80167744

Conflicting classifications of pathogenicity

not specified
Maple syrup urine disease

Criteria Provided
Conflicting Classifications

rs_776631396

3 SubmittersRCV001328417 RCV001381550

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

rs_2039383036

2 SubmittersRCV002642394 RCV004571195

NM_001918.5(DBT):c.1281+1G>C

SNV
Germline

Chr1:100206229

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

rs_755914063

2 SubmittersRCV001379105

NM_000709.4(BCKDHA):c.109-1G>A

SNV
Germline

Chr19:41410636

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_2123253583

1 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

rs_761996996

3 SubmittersRCV001376744 RCV002265026 RCV004570920

NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu)

SNV
Germline

Chr19:41424497

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

rs_769659202

2 SubmittersRCV001414007 RCV004038111

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

rs_143065803

2 SubmittersRCV001442175 RCV002555591

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

rs_776490043

2 SubmittersRCV001653038 RCV003523103

NM_001918.5(DBT):c.52-1G>C

SNV
Germline

Chr1:100240885

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_755914063

1 SubmittersRCV001780609

NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)

SNV
Germline

Chr19:41422164

Pathogenic/Likely pathogenic

Maple syrup urine disease
BCKDHA-related disorder
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

rs_369448982

5 SubmittersRCV001780680 RCV003892844 RCV004571095

NM_001918.5(DBT):c.1196C>G (p.Ser399Cys)

SNV
Germline

Chr1:100206458

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

rs_764247545

3 SubmittersRCV001810551 RCV004571110

NM_000709.4(BCKDHA):c.484+1G>A

SNV
Germline

Chr19:41414158

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

rs_2100797134

4 SubmittersRCV001840964 RCV002543269

NM_001918.5(DBT):c.820C>A (p.Pro274Thr)

SNV
Germline

Chr1:100214936

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_1310427311

1 SubmittersRCV001843390

NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)

SNV
Germline

Chr19:41424582

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_137852870

2 SubmittersRCV001848605

NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter)

SNV
Germline

Chr6:80171315

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

rs_1328608014

1 SubmittersRCV001941750

NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr)

SNV
Germline

Chr19:41422325

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_765045050

2 SubmittersRCV002040176

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

rs_759312184

2 SubmittersRCV001949316 RCV003235637

NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln)

SNV
Germline

Chr19:41411005

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

rs_1207966026

1 SubmittersRCV001951278

NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp)

SNV
Germline

Chr19:41422756

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_2039382789

1 SubmittersRCV002020620

NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys)

SNV
Germline

Chr19:41422262

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

rs_1002472211

2 SubmittersRCV001972711 RCV004571739

NM_001918.5(DBT):c.304C>T (p.Gln102Ter)

SNV
Germline

Chr1:100230862

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

rs_2127965290

2 SubmittersRCV002033600

NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)

SNV
Germline

Chr1:100196319

Pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_750594890

4 SubmittersRCV001918341

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_774472182

2 SubmittersRCV001918259 RCV004571587

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

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

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

rs_1213596075

1 SubmittersRCV002043878

NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)

SNV
Germline

Chr19:41422293

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_2122143393

1 SubmittersRCV002024792

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

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

rs_887411374

2 SubmittersRCV002248980

NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)

SNV
Germline

Chr19:41414127

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_2122122610

2 SubmittersRCV002249293

NM_183050.4(BCKDHB):c.1039-2A>G

SNV
Germline

Chr6:80343662

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

rs_2128020522

1 SubmittersRCV002249294

NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr)

SNV
Germline

Chr6:80273174

Likely pathogenic

Condition: not provided
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1777825845

2 SubmittersRCV002254500 RCV003094176

NM_000709.4(BCKDHA):c.996-26A>G

SNV
Germline

Chr19:41422972

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

rs_757986569

3 SubmittersRCV002274682 RCV003096179 RCV004572113

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

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

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

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

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

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

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

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

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

2 SubmittersRCV003060066 RCV004572723

NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)

SNV
Germline

Chr19:41422317

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064585

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

2 SubmittersRCV003061178 RCV004572740

NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)

SNV
Germline

Chr1:100206252

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003087431

NM_000709.4(BCKDHA):c.853+2T>C

SNV
Germline

Chr19:41422372

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002579160

NM_001918.5(DBT):c.182G>A (p.Arg61His)

SNV
Germline

Chr1:100235505

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003092610 RCV004073091

NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)

SNV
Germline

Chr19:41419216

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV002621450

NM_001918.5(DBT):c.1210-1G>C

SNV
Germline

Chr1:100206302

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV002618811

NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)

SNV
Germline

Chr19:41419157

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002736209

NM_183050.4(BCKDHB):c.197-2A>C

SNV
Germline

Chr6:80127545

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV002834329

NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)

SNV
Germline

Chr6:80168982

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV002837888

NM_183050.4(BCKDHB):c.197-1G>C

SNV
Germline

Chr6:80127546

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

2 SubmittersRCV002858548 RCV003223763

NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly)

SNV
Germline

Chr19:41422680

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

2 SubmittersRCV002928553 RCV003308349

NM_001918.5(DBT):c.872G>A (p.Arg291Gln)

SNV
Germline

Chr1:100214884

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV002928850

NM_001918.5(DBT):c.581C>A (p.Ser194Ter)

SNV
Germline

Chr1:100216174

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV002996120

NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)

SNV
Germline

Chr19:41422165

Conflicting classifications of pathogenicity

Maple syrup urine disease
BCKDHA-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002994237 RCV003943700

NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)

SNV
Germline

Chr19:41410805

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003155795

NM_001918.5(DBT):c.434-1G>C

SNV
Germline

Chr1:100218748

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003317816

NM_001918.5(DBT):c.51+1G>C

SNV
Germline

Chr1:100249769

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003445371

NM_000709.4(BCKDHA):c.993C>G (p.Tyr331Ter)

SNV
Unknown

Chr19:41422768

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

3 SubmittersRCV003465151 RCV003488802 RCV004574039

NM_000709.4(BCKDHA):c.376-1G>A

SNV
Unknown

Chr19:41414048

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003465153

NM_000709.4(BCKDHA):c.376-2A>G

SNV
Germline

Chr19:41414047

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465154

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

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

1 SubmittersRCV003465157

NM_000709.4(BCKDHA):c.996-1G>A

SNV
Unknown

Chr19:41422997

Likely pathogenic

Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

1 SubmittersRCV004574040

NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)

SNV
Unknown

Chr19:41419179

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003465164

NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)

SNV
Germline

Chr6:80201009

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465166

NM_183050.4(BCKDHB):c.633+2T>C

SNV
Unknown

Chr6:80169032

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

2 SubmittersRCV003465175 RCV004574046

NM_183050.4(BCKDHB):c.831G>A (p.Trp277Ter)

SNV
Unknown

Chr6:80201022

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003465176

NM_183050.4(BCKDHB):c.275-1G>A

SNV
Unknown

Chr6:80129160

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003465178

NM_183050.4(BCKDHB):c.196+1G>A

SNV
Unknown

Chr6:80106890

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003474337

NM_001918.5(DBT):c.252-2A>T

SNV
Unknown

Chr1:100230916

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003466103

NM_001918.5(DBT):c.252-2A>G

SNV
Unknown

Chr1:100230916

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003466104

NM_001918.5(DBT):c.394G>A (p.Gly132Arg)

SNV
Unknown

Chr1:100230772

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003466106

NM_001918.5(DBT):c.1274C>A (p.Ser425Ter)

SNV
Unknown

Chr1:100206237

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

2 SubmittersRCV003989846 RCV004574032

NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)

SNV
Unknown

Chr1:100206522

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

2 SubmittersRCV003523262 RCV004574056

NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter)

SNV
Germline

Chr6:80106888

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003522236

NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)

SNV
Germline

Chr19:41410953

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003524117

NM_000709.4(BCKDHA):c.995+2T>C

SNV
Germline

Chr19:41422772

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003524329

NM_000709.4(BCKDHA):c.853+1G>C

SNV
Germline

Chr19:41422371

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003522340

NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)

SNV
Germline

Chr6:80343667

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

1 SubmittersRCV003523581

NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter)

SNV
Germline

Chr6:80171369

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003525293

NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)

SNV
Germline

Chr6:80106761

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003524770

NM_001918.5(DBT):c.1018-2A>T

SNV
Germline

Chr1:100206638

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003522766

NM_001918.5(DBT):c.772+2T>G

SNV
Germline

Chr1:100215981

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003522615

NM_001918.5(DBT):c.437C>A (p.Ser146Ter)

SNV
Germline

Chr1:100218744

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003522896

NM_000709.4(BCKDHA):c.375+1G>A

SNV
Germline

Chr19:41411010

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003636350

NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)

SNV
Germline

Chr19:41423123

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637121

NM_183050.4(BCKDHB):c.841-2A>G

SNV
Germline

Chr6:80203100

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637084

NM_183050.4(BCKDHB):c.274+1G>T

SNV
Germline

Chr6:80127625

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637221

NM_001918.5(DBT):c.280C>T (p.Gln94Ter)

SNV
Germline

Chr1:100230886

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637243

NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)

SNV
Germline

Chr19:41410952

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637296

NM_000709.4(BCKDHA):c.375+2T>G

SNV
Germline

Chr19:41411011

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637812

NM_001918.5(DBT):c.1017+1G>T

SNV
Germline

Chr1:100210693

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637627

NM_001918.5(DBT):c.1017+1G>A

SNV
Germline

Chr1:100210693

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637726

NM_183050.4(BCKDHB):c.274+2T>C

SNV
Germline

Chr6:80127626

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003637856

NM_001918.5(DBT):c.881T>A (p.Leu294Ter)

SNV
Germline

Chr1:100214875

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

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

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

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

1 SubmittersRCV003823298

NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)

SNV
Germline

Chr19:41397882

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003838017

NM_183050.4(BCKDHB):c.841-1G>T

SNV
Germline

Chr6:80203101

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003855619

NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)

SNV
Germline

Chr6:80203193

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV003865727

NM_001918.5(DBT):c.30G>A (p.Trp10Ter)

SNV
Germline

Chr1:100249791

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003988751

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

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

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

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

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

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

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

1 SubmittersRCV004575398