Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)	SNV Germline	Chr19:41424582	Pathogenic/Likely pathogenic	Maple syrup urine disease type 1A Condition: not provided Maple syrup urine disease Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115507	rs_137852870	19 SubmittersRCV000002473 RCV000079229 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	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA115512	rs_137852873	8 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	5 SubmittersRCV001064270 RCV001818118 RCV004566673
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)	SNV Germline	Chr19:41422704	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA115518	rs_137852875	5 SubmittersRCV000179776 RCV002222336 RCV005016224
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)	SNV Germline	Chr19:41422309	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA115521	rs_137852876	4 SubmittersRCV002512677 RCV005024992
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 type 1B Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA121791	rs_121965004	3 SubmittersRCV003534309 RCV003460460
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)	SNV Germline	Chr6:80167690	Pathogenic	Maple syrup urine disease type 1B	No Assertion Criteria Provided	CA121794	rs_121965005	1 SubmittersRCV003534310
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	SNV Germline	Chr1:100214929	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease See cases Maple syrup urine disease type 2 Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA121797	rs_121964999	13 SubmittersRCV000079957 RCV000179835 RCV002251898 RCV003581558 RCV004566722
NM_001918.5(DBT):c.1018-550A>G	SNV Germline	Chr1:100207186	Pathogenic/Likely pathogenic	Maple syrup urine disease DBT-related disorder Maple syrup urine disease type 2 Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA212933	rs_796052135	8 SubmittersRCV000668558 RCV003415688 RCV003581560 RCV004566723
NM_001918.5(DBT):c.1448G>T (p.Ter483Leu)	SNV Germline	Chr1:100196256	Pathogenic	Maple syrup urine disease type 2	No Assertion Criteria Provided	CA121800	rs_121965000	1 SubmittersRCV003581561
NM_001918.5(DBT):c.294C>G (p.Ile98Met)	SNV Germline	Chr1:100230872	Pathogenic	Maple syrup urine disease type 2	No Assertion Criteria Provided	CA121802	rs_121965001	1 SubmittersRCV003581562
NM_001918.5(DBT):c.1355A>G (p.His452Arg)	SNV Germline	Chr1:100196349	Pathogenic	Maple syrup urine disease type 2	No Assertion Criteria Provided	CA121804	rs_121965002	1 SubmittersRCV003581564
NM_001918.5(DBT):c.581C>G (p.Ser194Ter)	SNV Germline	Chr1:100216174	Pathogenic	Maple syrup urine disease type 2	No Assertion Criteria Provided	CA121806	rs_121965003	1 SubmittersRCV000012731
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)	SNV Germline	Chr6:80343739	Pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224253	rs_386834234	4 SubmittersRCV000056007 RCV000790721 RCV005430116
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	SNV Germline	Chr6:80201023	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Condition: not provided Maple syrup urine disease type 1A BCKDHB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA224347	rs_386834233	18 SubmittersRCV000056009 RCV000587416 RCV000762424 RCV004566908 RCV004751250
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)	SNV Germline	Chr19:41423038	Conflicting classifications of pathogenicity	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A not specified	Criteria Provided Conflicting Classifications	CA221176	rs_182923857	6 SubmittersRCV000180181 RCV000790743 RCV004566947 RCV004700391
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 Condition: not provided Maple syrup urine disease type 1A Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA221182	rs_398123490	12 SubmittersRCV000180522 RCV000790815 RCV000853374 RCV002514392
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 Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221193	rs_398123497	8 SubmittersRCV000175638 RCV000790795 RCV001275910
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	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA221196	rs_398123498	5 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	5 SubmittersRCV000179338 RCV000819695 RCV004566951
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)	SNV Germline	Chr19:41422370	Pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221220	rs_398123508	9 SubmittersRCV000079257 RCV000179337 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 Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA221222	rs_200137189	9 SubmittersRCV000079259 RCV000664897 RCV004566952
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)	SNV Germline	Chr19:41422680	Pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221224	rs_398123509	6 SubmittersRCV000179780 RCV001283857 RCV004813052
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 Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221232	rs_398123514	6 SubmittersRCV000079268 RCV000723468 RCV001079760 RCV001826715 RCV005520238
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)	SNV Germline	Chr19:41422754	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221234	rs_398123515	9 SubmittersRCV000179779 RCV000790719 RCV001275918
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	SNV Germline	Chr1:100196413	Pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 2 Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA221874	rs_398123660	7 SubmittersRCV000174059 RCV000790685 RCV005003455 RCV005430117
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 Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA221891	rs_398123669	4 SubmittersRCV000173266 RCV001377582 RCV005016361
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	13 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 Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA275397	rs_185492864	12 SubmittersRCV000079959 RCV000179836 RCV004566955 RCV005003456
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	SNV Germline	Chr1:100214817	Pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA221905	rs_398123676	8 SubmittersRCV000179839 RCV000790732 RCV005430119 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	9 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	11 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	4 SubmittersRCV000082725 RCV000811483
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)	SNV Germline	Chr6:80129188	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA224266	rs_398124571	5 SubmittersRCV000177427 RCV001162146 RCV005031573
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	SNV Germline	Chr6:80129228	Pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224273	rs_398124573	5 SubmittersRCV000177426 RCV000790829 RCV004566962
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)	SNV Germline	Chr6:80168876	Conflicting classifications of pathogenicity	Condition: not provided not specified Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA224280	rs_398124576	3 SubmittersRCV000179044 RCV003317084 RCV002514448
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)	SNV Germline	Chr6:80168899	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA224289	rs_398124579	7 SubmittersRCV000082744 RCV000818306 RCV005031574 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 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224298	rs_398124581	3 SubmittersRCV000179045 RCV005042198 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 Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA224304	rs_371518124	8 SubmittersRCV000082749 RCV000179047 RCV004566966 RCV005042199
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)	SNV Germline	Chr6:80168906	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Inborn genetic diseases BCKDHB-related disorder	Criteria Provided Conflicting Classifications	CA224306	rs_371518124	5 SubmittersRCV000082750 RCV000631889 RCV002513855 RCV004751259
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)	SNV Germline	Chr6:80168923	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA224309	rs_398124582	6 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 type 1B Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA224315	rs_149766077	8 SubmittersRCV000082753 RCV001831891 RCV001857396
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu)	SNV Germline	Chr6:80168984	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA224321	rs_398124585	2 SubmittersRCV000082756 RCV003114246
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 Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA224330	rs_398124589	9 SubmittersRCV000179048 RCV000811119 RCV004566968 RCV005031576
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	Maple syrup urine disease Maple syrup urine disease type 1B Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224341	rs_398124593	7 SubmittersRCV000180018 RCV000586350 RCV000790839 RCV005430491
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)	SNV Germline	Chr6:80200990	Pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA274241	rs_398124594	8 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	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224349	rs_398124596	3 SubmittersRCV000180019 RCV000790653 RCV005430122
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	SNV Germline	Chr6:80203114	Pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA224353	rs_398124598	11 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	12 SubmittersRCV000169351 RCV000790773 RCV000779833 RCV004566973
NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)	SNV Germline	Chr6:80273157	Likely pathogenic	Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA224365	rs_398124604	2 SubmittersRCV000790833 RCV005430492
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)	SNV Germline	Chr1:100230801	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease type 1A Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA233879	rs_727503896	4 SubmittersRCV000153139 RCV004567174 RCV002516075
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg)	SNV Germline	Chr6:80343769	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A not specified Maple syrup urine disease type 1B	Criteria Provided Conflicting Classifications	CA233527	rs_727503822	6 SubmittersRCV000152850 RCV001261643 RCV004527362 RCV004689628 RCV005042296
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)	SNV Germline	Chr19:41424521	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Inborn genetic diseases BCKDHA-related disorder	Criteria Provided Conflicting Classifications	CA233525	rs_147021347	8 SubmittersRCV000723905 RCV001084720 RCV003162622 RCV004752758
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)	SNV Germline	Chr1:100240810	Pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA275073	rs_794727262	4 SubmittersRCV000175709 RCV000724185 RCV005430258
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 BCKDHA-related disorder	Criteria Provided Conflicting Classifications	CA247553	rs_373390136	6 SubmittersRCV000180183 RCV000724666 RCV001078509 RCV001835710 RCV004730897
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)	SNV Germline	Chr6:80171289	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA312368	rs_796051940	4 SubmittersRCV002008695 RCV004571908 RCV005042647
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)	SNV Germline	Chr6:80273205	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease not specified	Criteria Provided Conflicting Classifications	CA312365	rs_796051939	5 SubmittersRCV000185797 RCV000209023 RCV005431536
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 Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA279886	rs_863225262	5 SubmittersRCV000202366 RCV005025306
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 Maple syrup urine disease type 1A not specified	Criteria Provided Conflicting Classifications	CA354910	rs_869312126	4 SubmittersRCV000209422 RCV005430511 RCV005406951
NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn)	SNV Germline	Chr6:80167735	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA354928	rs_869312130	1 SubmittersRCV000209826
NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu)	SNV Germline	Chr6:80168951	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA354920	rs_148905512	1 SubmittersRCV000209747
NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala)	SNV Germline	Chr6:80273147	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA354915	rs_869312131	1 SubmittersRCV000209523
NM_001918.5(DBT):c.1033G>A (p.Gly345Arg)	SNV Germline	Chr1:100206621	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA354965	rs_869312132	1 SubmittersRCV000209922
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)	SNV Germline	Chr19:41422715	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA354952	rs_753698250	10 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 not specified	Criteria Provided Conflicting Classifications	CA10604119	rs_886042356	4 SubmittersRCV000351654 RCV001859557 RCV005055819
NM_183050.4(BCKDHB):c.290A>T (p.Asp97Val)	SNV Germline	Chr6:80129176	Likely pathogenic	Condition: not provided Maple syrup urine disease type 1B	Criteria Provided Single Submitter	CA10605114	rs_886043103	2 SubmittersRCV000392751 RCV005606660
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9460973	rs_140322984	7 SubmittersRCV000302671 RCV001275905 RCV001544681 RCV003972391 RCV004601158
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 not specified BCKDHA-related disorder	Criteria Provided Conflicting Classifications	CA9461400	rs_374403946	8 SubmittersRCV000306729 RCV001705494 RCV002348073 RCV005434836 RCV004752855
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)	SNV Germline	Chr1:100216030	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA16040653	rs_201559874	3 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 1A Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA3902601	rs_776631396	7 SubmittersRCV000410485 RCV004567884 RCV001828375
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)	SNV Germline	Chr6:80168884	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA16041095	rs_1057516799	6 SubmittersRCV000409047 RCV000780960 RCV005430323
NM_183050.4(BCKDHB):c.840+1G>A	SNV Germline	Chr6:80201032	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA16041097	rs_760538465	2 SubmittersRCV000411423 RCV005430297
NM_183050.4(BCKDHB):c.840+1G>T	SNV Germline	Chr6:80201032	Pathogenic	Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA3902769	rs_760538465	2 SubmittersRCV000578568 RCV005430294
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	SNV Germline	Chr19:41410665	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA9461009	rs_376456598	5 SubmittersRCV000409408 RCV004567877
NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)	SNV Germline	Chr6:80171285	Likely pathogenic	Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA16604994	rs_994415333	2 SubmittersRCV000429032 RCV005430535
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)	SNV Germline	Chr6:80167699	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	No Assertion Criteria Provided	CA16609445	rs_398124575	2 SubmittersRCV000449606 RCV005430537
NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn)	SNV Germline	Chr6:80343715	Likely pathogenic	Maple syrup urine disease	No Assertion Criteria Provided	CA16609446	rs_1060499715	1 SubmittersRCV000449516
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)	SNV Germline	Chr1:100230765	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA341343716	rs_1131691488	4 SubmittersRCV000493274 RCV000984157 RCV005430540
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	SNV Germline	Chr6:80273178	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease BCKDHB-related disorder Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA365009178	rs_1554205541	8 SubmittersRCV000498242 RCV000530607 RCV003419842 RCV005430542
NM_000709.4(BCKDHA):c.647-1G>C	SNV Germline	Chr19:41422163	Pathogenic/Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA9461229	rs_753216964	8 SubmittersRCV000498679 RCV000670031 RCV005018835
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	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364659123	rs_1554184224	3 SubmittersRCV000523329 RCV000671012 RCV005430544
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	SNV Germline	Chr1:100214884	Conflicting classifications of pathogenicity	Maple syrup urine disease not specified Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA341337383	rs_775808731	4 SubmittersRCV000535685 RCV001844190 RCV005430545
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)	SNV Germline	Chr6:80168900	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364657743	rs_749033513	6 SubmittersRCV000553115 RCV001829563 RCV005430546
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 BCKDHB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3902600	rs_751953459	10 SubmittersRCV000589594 RCV000732154 RCV001796129 RCV001814191 RCV004568308 RCV004730986
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	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA142284037	rs_79761867	4 SubmittersRCV000631894 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 2 Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA341330307	rs_1449113689	6 SubmittersRCV000668260 RCV004526740 RCV005004334 RCV004568514
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)	SNV Germline	Chr1:100206459	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA341330332	rs_1553229654	2 SubmittersRCV000666706 RCV005430445
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	SNV Germline	Chr1:100196322	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA341351426	rs_1553228626	2 SubmittersRCV000673281 RCV005430762
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	SNV Germline	Chr1:100196304	Likely pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA969456	rs_767760099	3 SubmittersRCV000669588 RCV000760490 RCV005430630
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	SNV Germline	Chr1:100206528	Conflicting classifications of pathogenicity	Maple syrup urine disease Condition: not provided not specified Maple syrup urine disease type 1A Maple syrup urine disease type 2	Criteria Provided Conflicting Classifications	CA969568	rs_768389398	6 SubmittersRCV000670216 RCV001092053 RCV001797779 RCV005430659 RCV005010662
NM_001918.5(DBT):c.788T>C (p.Met263Thr)	SNV Germline	Chr1:100214968	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA341337997	rs_1553230703	2 SubmittersRCV000667766 RCV005430575
NM_001918.5(DBT):c.555+1G>A	SNV Unknown	Chr1:100218625	Likely pathogenic	Maple syrup urine disease type 1A	No Assertion Criteria Provided	CA341340441	rs_1553231037	1 SubmittersRCV005430714
NM_001918.5(DBT):c.434-1G>A	SNV Germline	Chr1:100218748	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA969740	rs_754004231	2 SubmittersRCV000666893 RCV005430451
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	SNV Germline	Chr1:100196361	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA969468	rs_749366506	3 SubmittersRCV000672644 RCV005430738
NM_001918.5(DBT):c.1017G>A (p.Lys339=)	SNV Germline	Chr1:100210694	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A Condition: not provided Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA419099915	rs_1490661508	5 SubmittersRCV000665137 RCV004568490 RCV005091923 RCV004792358
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)	SNV Germline	Chr1:100216121	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA341338666	rs_1553230841	4 SubmittersRCV000673717 RCV004568559
NM_183050.4(BCKDHB):c.633+1G>C	SNV Unknown	Chr6:80169031	Likely pathogenic	Maple syrup urine disease type 1A	No Assertion Criteria Provided	CA364658203	rs_398124589	1 SubmittersRCV005430413
NM_183050.4(BCKDHB):c.952-2A>G	SNV Germline	Chr6:80273133	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA365008741	rs_1554205499	3 SubmittersRCV000665340 RCV004568491
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)	SNV Germline	Chr6:80343774	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA365021597	rs_190867671	4 SubmittersRCV000668675 RCV005430604
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)	SNV Germline	Chr6:80106694	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364657845	rs_1005542482	5 SubmittersRCV000666521 RCV003987655 RCV005430439
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	SNV Germline	Chr6:80106862	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364658399	rs_1554181192	3 SubmittersRCV000671817 RCV005430711
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)	SNV Germline	Chr6:80106874	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA3902516	rs_774916970	2 SubmittersRCV000673646 RCV005430773
NM_183050.4(BCKDHB):c.196+1G>T	SNV Unknown	Chr6:80106890	Likely pathogenic	Maple syrup urine disease type 1A	No Assertion Criteria Provided	CA364658461	rs_1554181203	1 SubmittersRCV005430751
NM_183050.4(BCKDHB):c.841-1G>C	SNV Germline	Chr6:80203101	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA142287792	rs_962489830	3 SubmittersRCV000666534 RCV005046861 RCV005430441
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	SNV Germline	Chr6:80273171	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA365009112	rs_1224101411	5 SubmittersRCV000673516 RCV005046905 RCV005430769
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)	SNV Germline	Chr6:80343692	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA365021410	rs_1304667430	3 SubmittersRCV000672025 RCV004568547
NM_183050.4(BCKDHB):c.742+1G>A	SNV Germline	Chr6:80171391	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA364658788	rs_1554190322	2 SubmittersRCV000672647 RCV005430739
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)	SNV Germline	Chr6:80106695	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA142276824	rs_940391887	3 SubmittersRCV000669039 RCV005430615
NM_183050.4(BCKDHB):c.196+1G>C	SNV Unknown	Chr6:80106890	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA364658460	rs_1554181203	2 SubmittersRCV000672543 RCV005430734
NM_183050.4(BCKDHB):c.343+2T>G	SNV Germline	Chr6:80129231	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA364659278	rs_1554184237	2 SubmittersRCV000672452 RCV005430729
NM_183050.4(BCKDHB):c.633+1G>T	SNV Germline	Chr6:80169031	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364658206	rs_398124589	5 SubmittersRCV000669008 RCV001829852 RCV005430613
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	SNV Germline	Chr6:80343784	Pathogenic/Likely pathogenic	Maple syrup urine disease BCKDHB-related disorder Maple syrup urine disease type 1A Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA3902857	rs_751599203	9 SubmittersRCV000671826 RCV003403562 RCV004568543 RCV005046893
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)	SNV Germline	Chr19:41414148	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA9461152	rs_769688327	2 SubmittersRCV000669276 RCV005430621
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)	SNV Germline	Chr19:41422274	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA9461255	rs_199599175	4 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	CA9461290	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	CA9461294	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 Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA308525459	rs_765543886	4 SubmittersRCV000673741 RCV005430776
NM_000709.4(BCKDHA):c.3G>A (p.Met1Ile)	SNV Unknown	Chr19:41397830	Likely pathogenic	Maple syrup urine disease type 1A	No Assertion Criteria Provided	CA406023089	rs_1555764014	1 SubmittersRCV005430722
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)	SNV Germline	Chr19:41422311	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA308524327	rs_761996996	3 SubmittersRCV000672950 RCV005430752
NM_000709.4(BCKDHA):c.853+1G>T	SNV Unknown	Chr19:41422371	Likely pathogenic	Maple syrup urine disease type 1A	No Assertion Criteria Provided	CA406013104	rs_1555767028	1 SubmittersRCV005430625
NM_000709.4(BCKDHA):c.1192G>T (p.Glu398Ter)	SNV Germline	Chr19:41424462	Likely pathogenic	Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA406015257	rs_201168715	2 SubmittersRCV005253051
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)	SNV Germline	Chr19:41410655	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA308515228	rs_374625613	4 SubmittersRCV000665755 RCV005430420
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)	SNV Germline	Chr19:41423089	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA308525418	rs_942815730	4 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 Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA3902654	rs_774306610	4 SubmittersRCV000704171 RCV001825391 RCV005253084
NM_000709.4(BCKDHA):c.108+5G>C	SNV Germline	Chr19:41397940	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA891843543	rs_1568499702	1 SubmittersRCV000694889
NM_183050.4(BCKDHB):c.498G>C (p.Lys166Asn)	SNV Germline	Chr6:80168895	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease type 1B not specified	Criteria Provided Conflicting Classifications	CA364657732	rs_1562104211	3 SubmittersRCV000727895 RCV005036042 RCV004526761
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)	SNV Germline	Chr6:80200935	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease BCKDHB-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3902752	rs_147719822	6 SubmittersRCV000755846 RCV001080961 RCV003955490 RCV005306143
NM_183050.4(BCKDHB):c.1145G>A (p.Cys382Tyr)	SNV Unknown	Chr6:80343770	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA365021586	rs_1202365275	1 SubmittersRCV000761470
NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)	SNV Unknown	Chr19:41410966	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406005684	rs_1568503938	1 SubmittersRCV000761534
NM_001918.5(DBT):c.1281+1G>T	SNV Germline	Chr1:100206229	Pathogenic/Likely pathogenic	Maple syrup urine disease type 1A Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA341329699	rs_1557943881	2 SubmittersRCV004577341 RCV004798867
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr19:41423071	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA9461364	rs_762199542	1 SubmittersRCV000785061
NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp)	SNV Germline	Chr6:80106889	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658457	rs_1328608014	1 SubmittersRCV000822086
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)	SNV Germline	Chr19:41424522	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9461414	rs_368567109	5 SubmittersRCV000806773 RCV001830757 RCV002534833 RCV005004437
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)	SNV Germline	Chr19:41422261	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9461252	rs_137960127	5 SubmittersRCV000872380 RCV001273308 RCV004962893
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)	SNV Germline	Chr6:80167745	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Conflicting Classifications	CA3902602	rs_142858149	3 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	CA3902660	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 Maple syrup urine disease type 1A Inborn genetic diseases BCKDHA-related disorder	Criteria Provided Conflicting Classifications	CA9461081	rs_142967869	6 SubmittersRCV000880930 RCV001273303 RCV002434172 RCV003955819
NM_001918.5(DBT):c.62G>A (p.Arg21His)	SNV Germline	Chr1:100240874	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA969837	rs_533707792	2 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	CA9461088	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	CA341340708	rs_1570820579	3 SubmittersRCV000986389
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe)	SNV Unknown	Chr6:80168875	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364657691	rs_1582275277	1 SubmittersRCV000987746
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys)	SNV Unknown	Chr6:80168925	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA3902645	rs_763645251	1 SubmittersRCV000987747
NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu)	SNV Germline	Chr19:41410927	Conflicting classifications of pathogenicity	Condition: not provided Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9461080	rs_532803527	4 SubmittersRCV000996931 RCV001471532 RCV004962989
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)	SNV Germline	Chr19:41422170	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406012671	rs_2039372961	2 SubmittersRCV001035319 RCV005401692
NM_183050.4(BCKDHB):c.1038+2T>C	SNV Germline	Chr6:80273223	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA3902833	rs_762419044	3 SubmittersRCV001067446 RCV001827439
NM_183050.4(BCKDHB):c.343+1G>C	SNV Germline	Chr6:80129230	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364659274	rs_1770503105	1 SubmittersRCV001050317
NM_001918.5(DBT):c.198G>A (p.Gln66=)	SNV Germline	Chr1:100235489	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA969798	rs_201714436	3 SubmittersRCV001101248
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)	SNV Germline	Chr19:41410653	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA9461007	rs_150177278	3 SubmittersRCV001132487
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)	SNV Germline	Chr19:41414114	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA507557896	rs_2039284438	2 SubmittersRCV001134883
NM_000709.4(BCKDHA):c.108+12G>A	SNV Germline	Chr19:41397947	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA9460983	rs_780834493	2 SubmittersRCV001129780
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)	SNV Germline	Chr6:80171380	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA3902717	rs_537988425	3 SubmittersRCV001164159
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)	SNV Germline	Chr6:80106694	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA142276823	rs_1005542482	4 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	CA3902576	rs_371117671	6 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	CA406015139	rs_2039405116	2 SubmittersRCV001197612
NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter)	SNV Germline	Chr6:80171306	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Single Submitter	CA364658553	rs_1772902148	2 SubmittersRCV001224152 RCV005606779
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)	SNV Germline	Chr6:80168893	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA364657727	rs_1772735425	5 SubmittersRCV001203795
NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter)	SNV Germline	Chr6:80200936	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364659888	rs_1774361781	1 SubmittersRCV001212982
NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser)	SNV Germline	Chr19:41414157	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406008475	rs_2039285328	1 SubmittersRCV001209953
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)	SNV Germline	Chr19:41423063	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406013881	rs_1214763792	3 SubmittersRCV001204854
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)	SNV Germline	Chr19:41411001	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Single Submitter	CA406006048	rs_2039247540	2 SubmittersRCV001235560 RCV005606784
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)	SNV Germline	Chr19:41423096	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA9461368	rs_375957868	3 SubmittersRCV001240489 RCV001828952
NM_183050.4(BCKDHB):c.951+1G>A	SNV Germline	Chr6:80203213	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA3902795	rs_756647770	2 SubmittersRCV001232495 RCV004570581
NM_000709.4(BCKDHA):c.1167+1G>C	SNV Germline	Chr19:41423170	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406014325	rs_2039389302	1 SubmittersRCV001244572
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile)	SNV Germline	Chr1:100206470	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341330369	rs_1661797765	1 SubmittersRCV001255378
NM_001918.5(DBT):c.252G>T (p.Trp84Cys)	SNV Germline	Chr1:100230914	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA969783	rs_200638406	2 SubmittersRCV001255379 RCV004570647
NM_001918.5(DBT):c.1209+1G>A	SNV Germline	Chr1:100206444	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341330272	rs_1661795778	1 SubmittersRCV001255380
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)	SNV Germline	Chr19:41422257	Conflicting classifications of pathogenicity	Maple syrup urine disease not specified	Criteria Provided Conflicting Classifications	CA406012849	rs_1468416468	3 SubmittersRCV001262490 RCV005057176
NM_001918.5(DBT):c.1208C>A (p.Ser403Ter)	SNV Unknown	Chr1:100206446	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341330277	rs_1661796496	1 SubmittersRCV001264214
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)	SNV Germline	Chr1:100210750	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA341335030	rs_1662088383	3 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	CA341344377	rs_1663520073	1 SubmittersRCV001263640
NM_001918.5(DBT):c.209C>A (p.Ser70Ter)	SNV Unknown	Chr1:100235478	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341345478	rs_398123664	1 SubmittersRCV001263641
NM_001918.5(DBT):c.196C>T (p.Gln66Ter)	SNV Unknown	Chr1:100235491	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341345547	rs_1663814011	1 SubmittersRCV001263642
NM_001918.5(DBT):c.187C>T (p.Gln63Ter)	SNV Unknown	Chr1:100235500	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341345602	rs_1663814241	1 SubmittersRCV001263643
NM_001918.5(DBT):c.126T>A (p.Tyr42Ter)	SNV Unknown	Chr1:100240810	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341346937	rs_794727262	1 SubmittersRCV001263644
NM_001918.5(DBT):c.70C>T (p.Gln24Ter)	SNV Unknown	Chr1:100240866	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341347132	rs_1664173086	1 SubmittersRCV001263645
NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter)	SNV Unknown	Chr6:80167686	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364660363	rs_1772645594	1 SubmittersRCV001263564
NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter)	SNV Unknown	Chr6:80168898	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364657739	rs_1772736212	1 SubmittersRCV001263565
NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter)	SNV Unknown	Chr6:80169022	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658160	rs_1389512878	1 SubmittersRCV001263566
NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter)	SNV Unknown	Chr6:80171380	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658766	rs_537988425	1 SubmittersRCV001263567
NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter)	SNV Unknown	Chr6:80200981	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364659984	rs_933828560	1 SubmittersRCV001263852
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)	SNV Germline	Chr6:80201021	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA364660064	rs_1774369632	2 SubmittersRCV001263853
NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter)	SNV Unknown	Chr19:41410724	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406004719	rs_2039242789	2 SubmittersRCV001264340
NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter)	SNV Unknown	Chr19:41414078	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406007811	rs_1459441231	1 SubmittersRCV001264341
NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter)	SNV Unknown	Chr19:41419235	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406010977	rs_575806482	1 SubmittersRCV001263561
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)	SNV Germline	Chr19:41422229	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406012789	rs_1303770209	3 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	CA406013419	rs_2039381583	1 SubmittersRCV001263563
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)	SNV Germline	Chr6:80167744	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA364660495	rs_776631396	3 SubmittersRCV001381550
NM_000709.4(BCKDHA):c.995+1G>A	SNV Germline	Chr19:41422771	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406013556	rs_2039383036	2 SubmittersRCV002642394 RCV004571195
NM_001918.5(DBT):c.1281+1G>C	SNV Germline	Chr1:100206229	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341329702	rs_1557943881	1 SubmittersRCV001379050
NM_001918.5(DBT):c.252-1G>T	SNV Germline	Chr1:100230915	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341344566	rs_1663522846	1 SubmittersRCV001377757
NM_001918.5(DBT):c.52-1G>A	SNV Germline	Chr1:100240885	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA341347204	rs_755914063	2 SubmittersRCV001379105
NM_000709.4(BCKDHA):c.109-1G>A	SNV Germline	Chr19:41410636	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406004413	rs_2123253583	2 SubmittersRCV001378292
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)	SNV Germline	Chr19:41422311	Pathogenic/Likely pathogenic	Maple syrup urine disease Condition: not provided Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA308524323	rs_761996996	3 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	CA406015371	rs_2098470870	1 SubmittersRCV001378139
NM_001918.5(DBT):c.1281+2T>A	SNV Germline	Chr1:100206228	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341329695	rs_2100779270	1 SubmittersRCV001390159
NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg)	SNV Germline	Chr6:80106889	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658456	rs_1328608014	1 SubmittersRCV001380845
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)	SNV Germline	Chr19:41410658	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406004562	rs_1220443382	1 SubmittersRCV001380797
NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter)	SNV Germline	Chr19:41422659	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406013322	rs_1318419473	1 SubmittersRCV001387039
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)	SNV Germline	Chr19:41424576	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406015648	rs_1298823471	2 SubmittersRCV001385732
NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)	SNV Germline	Chr19:41397862	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9460967	rs_769659202	2 SubmittersRCV001414007 RCV004038111
NM_000709.4(BCKDHA):c.1070A>G (p.Gln357Arg)	SNV Germline	Chr19:41423072	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA9461365	rs_185688419	2 SubmittersRCV001409138 RCV005023157
NM_000709.4(BCKDHA):c.1286G>A (p.Arg429His)	SNV Germline	Chr19:41424556	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9461422	rs_143065803	2 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	CA969477	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	CA969838	rs_755914063	1 SubmittersRCV001780609
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	SNV Germline	Chr19:41422164	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A BCKDHA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA9461230	rs_369448982	5 SubmittersRCV001780680 RCV004571095 RCV003892844
NM_001918.5(DBT):c.1196C>G (p.Ser399Cys)	SNV Germline	Chr1:100206458	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341330329	rs_2100779875	1 SubmittersRCV001807947
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)	SNV Germline	Chr19:41422634	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA9461289	rs_764247545	4 SubmittersRCV001810551 RCV004571110
NM_000709.4(BCKDHA):c.484+1G>A	SNV Germline	Chr19:41414158	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406008486	rs_2122122667	1 SubmittersRCV001837053
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)	SNV Germline	Chr1:100214840	Pathogenic	Maple syrup urine disease type 2 Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA341337018	rs_2100797134	4 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	CA341337803	rs_1310427311	1 SubmittersRCV001843390
NM_000709.4(BCKDHA):c.1312T>C (p.Tyr438His)	SNV Germline	Chr19:41424582	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406015686	rs_137852870	3 SubmittersRCV001848605 RCV004764804
NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter)	SNV Germline	Chr6:80171315	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658601	rs_1248040495	1 SubmittersRCV001936965
NM_183050.4(BCKDHB):c.196G>C (p.Gly66Arg)	SNV Germline	Chr6:80106889	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658458	rs_1328608014	1 SubmittersRCV001941750
NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr)	SNV Germline	Chr19:41422325	Likely pathogenic	Maple syrup urine disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9461263	rs_765045050	3 SubmittersRCV002040176 RCV004721001
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)	SNV Germline	Chr1:100230870	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341344389	rs_1557956678	1 SubmittersRCV002010688
NM_001918.5(DBT):c.1A>G (p.Met1Val)	SNV Germline	Chr1:100249820	Conflicting classifications of pathogenicity	Maple syrup urine disease not specified	Criteria Provided Conflicting Classifications	CA969877	rs_759312184	2 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	CA9461097	rs_752700457	1 SubmittersRCV002008317
NM_001918.5(DBT):c.311A>T (p.Asp104Val)	SNV Germline	Chr1:100230855	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341344324	rs_1553232188	1 SubmittersRCV002005492
NM_001918.5(DBT):c.1324C>T (p.Gln442Ter)	SNV Germline	Chr1:100196380	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341351622	rs_1276927916	1 SubmittersRCV001874647
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)	SNV Germline	Chr1:100249792	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA969861	rs_572340170	2 SubmittersRCV001919733
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)	SNV Germline	Chr19:41423030	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406013814	rs_774735002	1 SubmittersRCV001919750
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)	SNV Germline	Chr1:100206279	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341330042	rs_2100779419	1 SubmittersRCV002002443
NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)	SNV Germline	Chr1:100196320	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA969461	rs_765257706	1 SubmittersRCV001999539
NM_001918.5(DBT):c.175+1G>A	SNV Germline	Chr1:100240760	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341346749	rs_2100844517	1 SubmittersRCV002011455
NM_001918.5(DBT):c.772+1G>C	SNV Germline	Chr1:100215982	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341338130	rs_2100799417	1 SubmittersRCV001989113
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)	SNV Germline	Chr19:41397860	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406023147	rs_1207966026	1 SubmittersRCV001951278
NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp)	SNV Germline	Chr19:41422756	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA406013517	rs_2039382789	2 SubmittersRCV002020620 RCV005361921
NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys)	SNV Germline	Chr19:41422262	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406012858	rs_137852874	1 SubmittersRCV002043368
NM_183050.4(BCKDHB):c.477+1G>A	SNV Germline	Chr6:80167812	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA142283916	rs_1002472211	2 SubmittersRCV001972711 RCV004571739
NM_001918.5(DBT):c.304C>T (p.Gln102Ter)	SNV Germline	Chr1:100230862	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341344354	rs_2100827593	1 SubmittersRCV001972787
NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln)	SNV Germline	Chr19:41422635	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA9461291	rs_757457825	1 SubmittersRCV002018388
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)	SNV Germline	Chr6:80273220	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA365009409	rs_2127965290	2 SubmittersRCV002033600
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)	SNV Germline	Chr1:100196319	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA969460	rs_750594890	5 SubmittersRCV001918341 RCV005050453
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val)	SNV Germline	Chr6:80167726	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA364660459	rs_774472182	4 SubmittersRCV001918259 RCV004571587 RCV005038483
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)	SNV Germline	Chr1:100235481	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA341345493	rs_1663813561	3 SubmittersRCV002022420
NM_000709.4(BCKDHA):c.996-2A>G	SNV Germline	Chr19:41422996	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406013729	rs_2122146208	2 SubmittersRCV001984178
NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly)	SNV Germline	Chr19:41422275	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406012889	rs_1213596075	1 SubmittersRCV002043878
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)	SNV Germline	Chr19:41422293	Conflicting classifications of pathogenicity	Maple syrup urine disease not specified	Criteria Provided Conflicting Classifications	CA406012929	rs_2122143393	2 SubmittersRCV002024792 RCV004699650
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)	SNV Germline	Chr1:100196395	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA969473	rs_772490888	2 SubmittersRCV002209091
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)	SNV Germline	Chr19:41422260	Conflicting classifications of pathogenicity	Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA308524255	rs_887411374	2 SubmittersRCV002248980
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)	SNV Germline	Chr19:41414127	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406008194	rs_2122122610	3 SubmittersRCV002249293 RCV005017161
NM_183050.4(BCKDHB):c.1039-2A>G	SNV Germline	Chr6:80343662	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA365021339	rs_2128020522	2 SubmittersRCV002249294 RCV005042756
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr)	SNV Germline	Chr6:80273174	Likely pathogenic	Condition: not provided Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA365009145	rs_1777825845	3 SubmittersRCV002254500 RCV003094176 RCV005042760
NM_000709.4(BCKDHA):c.996-26A>G	SNV Germline	Chr19:41422972	Conflicting classifications of pathogenicity	Condition: not provided not specified Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA9461348	rs_757986569	5 SubmittersRCV002274682 RCV004700711 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	CA406015445	rs_1437382824	2 SubmittersRCV002308594
NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)	SNV Unknown	Chr19:41414142	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406008318	rs_2513454434	1 SubmittersRCV002309961
NM_183050.4(BCKDHB):c.949A>T (p.Lys317Ter)	SNV Unknown	Chr6:80203210	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364660334	rs_2482270092	1 SubmittersRCV002308084
NM_001918.5(DBT):c.904G>T (p.Gly302Ter)	SNV Unknown	Chr1:100214852	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341337097	rs_2524147212	1 SubmittersRCV002309061
NM_000709.4(BCKDHA):c.318C>A (p.Tyr106Ter)	SNV Unknown	Chr19:41410952	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406005527	rs_2513452367	1 SubmittersRCV002310105
NM_001918.5(DBT):c.131C>G (p.Ser44Ter)	SNV Unknown	Chr1:100240805	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341346926	rs_2524255388	1 SubmittersRCV002310271
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)	SNV Germline	Chr19:41410781	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406004912	rs_2513452174	2 SubmittersRCV002310363
NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly)	SNV Germline	Chr6:80171294	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658493	rs_2481919576	1 SubmittersRCV003060065
NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)	SNV Germline	Chr6:80200958	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364659935	rs_1384040769	2 SubmittersRCV003060066 RCV004572723
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)	SNV Germline	Chr19:41422317	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA406012979	rs_1568508047	4 SubmittersRCV003064585 RCV005019592
NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)	SNV Germline	Chr6:80168981	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA142284038	rs_1009457715	2 SubmittersRCV003061178 RCV004572740
NM_001918.5(DBT):c.16A>G (p.Met6Val)	SNV Germline	Chr1:100249805	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA969866	rs_749693779	2 SubmittersRCV003077628 RCV005552872
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)	SNV Germline	Chr1:100206252	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA969522	rs_769600540	2 SubmittersRCV003087431 RCV005002948
NM_000709.4(BCKDHA):c.853+2T>C	SNV Germline	Chr19:41422372	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA9461272	rs_558254502	2 SubmittersRCV002579160
NM_001918.5(DBT):c.182G>A (p.Arg61His)	SNV Germline	Chr1:100235505	Conflicting classifications of pathogenicity	Inborn genetic diseases Maple syrup urine disease	Criteria Provided Conflicting Classifications	CA969799	rs_199954954	2 SubmittersRCV004073091 RCV003092610
NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)	SNV Germline	Chr19:41419216	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406010931	rs_1200370519	1 SubmittersRCV002621450
NM_001918.5(DBT):c.1210-1G>C	SNV Germline	Chr1:100206302	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341330200	rs_1271011315	1 SubmittersRCV002618811
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)	SNV Germline	Chr19:41419157	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA9461190	rs_754613642	3 SubmittersRCV002736209 RCV005019359
NM_183050.4(BCKDHB):c.197-2A>C	SNV Germline	Chr6:80127545	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658941	rs_869312127	1 SubmittersRCV002834329
NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)	SNV Germline	Chr6:80168982	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364657960	rs_2481900188	1 SubmittersRCV002837888
NM_183050.4(BCKDHB):c.197-1G>C	SNV Germline	Chr6:80127546	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658944	rs_2481557966	1 SubmittersRCV002829324
NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)	SNV Germline	Chr19:41422681	Conflicting classifications of pathogenicity	Maple syrup urine disease Condition: not provided	Criteria Provided Conflicting Classifications	CA406013369	rs_2513460454	2 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	CA406013367	rs_398123509	1 SubmittersRCV002903690
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)	SNV Germline	Chr19:41414052	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9461126	rs_779792601	2 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	CA969646	rs_775808731	1 SubmittersRCV002928850
NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)	SNV Germline	Chr6:80203204	Conflicting classifications of pathogenicity	Maple syrup urine disease Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA364660319	rs_1774481189	2 SubmittersRCV002979501 RCV005522754
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)	SNV Germline	Chr1:100216174	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341338973	rs_121965003	1 SubmittersRCV002996120
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)	SNV Germline	Chr19:41410805	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406005057	rs_753452195	1 SubmittersRCV003014725
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)	SNV Germline	Chr6:80168977	Pathogenic/Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA364657941	rs_2481900030	2 SubmittersRCV003149167
NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)	SNV Germline	Chr19:41397859	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406023144	rs_2513443827	2 SubmittersRCV003155795
NM_001918.5(DBT):c.434-1G>C	SNV Germline	Chr1:100218748	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341340729	rs_754004231	1 SubmittersRCV003317816
NM_001918.5(DBT):c.51+1G>C	SNV Germline	Chr1:100249769	Conflicting classifications of pathogenicity	Maple syrup urine disease Maple syrup urine disease type 2	Criteria Provided Conflicting Classifications	CA341348355	rs_398123669	3 SubmittersRCV003445371 RCV005021971
NM_000709.4(BCKDHA):c.993C>G (p.Tyr331Ter)	SNV Unknown	Chr19:41422768	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406013547	rs_904711508	1 SubmittersRCV003465150
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)	SNV Germline	Chr19:41419135	Conflicting classifications of pathogenicity	Maple syrup urine disease not specified Maple syrup urine disease type 1A	Criteria Provided Conflicting Classifications	CA406010420	rs_1251140817	4 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	CA406007562	rs_2513454323	1 SubmittersRCV003465153
NM_000709.4(BCKDHA):c.376-2A>G	SNV Germline	Chr19:41414047	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406007556	rs_1322799946	3 SubmittersRCV003465154 RCV005021988
NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)	SNV Germline	Chr19:41410942	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA406005439	rs_2513452355	2 SubmittersRCV003465155
NM_000709.4(BCKDHA):c.1238A>G (p.Tyr413Cys)	SNV Unknown	Chr19:41424508	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406015395	rs_2513462327	1 SubmittersRCV003465157
NM_000709.4(BCKDHA):c.996-1G>A	SNV Germline	Chr19:41422997	Likely pathogenic	Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406013731	rs_2513460977	2 SubmittersRCV004574040
NM_000709.4(BCKDHA):c.529C>T (p.Gln177Ter)	SNV Germline	Chr19:41419179	Pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406010708	rs_2513457448	2 SubmittersRCV003465164 RCV005622238
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)	SNV Germline	Chr6:80201009	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA3902766	rs_769886312	3 SubmittersRCV003465166 RCV005047620
NM_183050.4(BCKDHB):c.633+2T>C	SNV Unknown	Chr6:80169032	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658210	rs_2481901220	1 SubmittersRCV003465167
NM_183050.4(BCKDHB):c.634-2A>G	SNV Germline	Chr6:80171280	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364658466	rs_1295567170	2 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	CA364660067	rs_1174121102	1 SubmittersRCV003465176
NM_183050.4(BCKDHB):c.275-1G>A	SNV Unknown	Chr6:80129160	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364659125	rs_2481575908	1 SubmittersRCV003465178
NM_183050.4(BCKDHB):c.196+1G>A	SNV Unknown	Chr6:80106890	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658459	rs_1554181203	1 SubmittersRCV003474337
NM_001918.5(DBT):c.252-2A>T	SNV Unknown	Chr1:100230916	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341344570	rs_1342553753	1 SubmittersRCV003466103
NM_001918.5(DBT):c.252-2A>G	SNV Unknown	Chr1:100230916	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341344572	rs_1342553753	1 SubmittersRCV003466104
NM_001918.5(DBT):c.394G>A (p.Gly132Arg)	SNV Germline	Chr1:100230772	Likely pathogenic	Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA341343788	rs_2524216359	2 SubmittersRCV003466106
NM_001918.5(DBT):c.1274C>A (p.Ser425Ter)	SNV Unknown	Chr1:100206237	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341329754	rs_2524106032	1 SubmittersRCV003466107
NM_001918.5(DBT):c.505C>T (p.Arg169Ter)	SNV Germline	Chr1:100218676	Likely pathogenic	Maple syrup urine disease type 2 Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA341340542	rs_2524164751	2 SubmittersRCV003989846 RCV004574032
NM_001918.5(DBT):c.1132C>T (p.Gln378Ter)	SNV Unknown	Chr1:100206522	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA969567	rs_780579655	1 SubmittersRCV003466111
NM_001918.5(DBT):c.250T>C (p.Trp84Arg)	SNV Unknown	Chr1:100235437	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA27598545	rs_113842781	1 SubmittersRCV003482202
NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)	SNV Germline	Chr6:80168929	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA364657801	rs_2481898824	2 SubmittersRCV003523262 RCV004574056
NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter)	SNV Germline	Chr6:80106888	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658455	rs_1402634815	1 SubmittersRCV003522236
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)	SNV Germline	Chr19:41410953	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406005545	rs_749487379	1 SubmittersRCV003524117
NM_000709.4(BCKDHA):c.995+2T>C	SNV Germline	Chr19:41422772	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406013559	rs_2513460625	1 SubmittersRCV003524329
NM_000709.4(BCKDHA):c.853+1G>C	SNV Germline	Chr19:41422371	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406013106	rs_1555767028	1 SubmittersRCV003522340
NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)	SNV Germline	Chr6:80343667	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA365021353	rs_989873156	1 SubmittersRCV003525050
NM_000709.4(BCKDHA):c.746G>T (p.Gly249Val)	SNV Germline	Chr19:41422263	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406012861	rs_796051937	1 SubmittersRCV003523581
NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter)	SNV Germline	Chr6:80171369	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658742	rs_1159943999	1 SubmittersRCV003525293
NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)	SNV Germline	Chr6:80106761	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364658073	rs_2533311576	1 SubmittersRCV003524770
NM_001918.5(DBT):c.1018-2A>T	SNV Germline	Chr1:100206638	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341332828	rs_2524109140	1 SubmittersRCV003522766
NM_001918.5(DBT):c.772+2T>G	SNV Germline	Chr1:100215981	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341338125	rs_2524153154	1 SubmittersRCV003522615
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)	SNV Germline	Chr1:100218744	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341340719	rs_2524165275	1 SubmittersRCV003522896
NM_000709.4(BCKDHA):c.375+1G>A	SNV Germline	Chr19:41411010	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406006142	rs_2513452452	1 SubmittersRCV003636350
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)	SNV Germline	Chr19:41423123	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1A	Criteria Provided Multiple Submitters No Conflicts	CA406014060	rs_2513461198	2 SubmittersRCV003637121 RCV005014841
NM_183050.4(BCKDHB):c.841-2A>G	SNV Germline	Chr6:80203100	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364660091	rs_2482267558	1 SubmittersRCV003637084
NM_183050.4(BCKDHB):c.274+1G>T	SNV Germline	Chr6:80127625	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA3902555	rs_377722320	1 SubmittersRCV003637221
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)	SNV Germline	Chr1:100230886	Pathogenic/Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 2	Criteria Provided Multiple Submitters No Conflicts	CA341344457	rs_2524217135	2 SubmittersRCV003637243 RCV005014846
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)	SNV Germline	Chr19:41410952	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406005532	rs_2513452367	1 SubmittersRCV003637296
NM_000709.4(BCKDHA):c.375+2T>G	SNV Germline	Chr19:41411011	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA9461098	rs_756052603	1 SubmittersRCV003637812
NM_001918.5(DBT):c.1017+1G>T	SNV Germline	Chr1:100210693	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341334391	rs_1176555925	1 SubmittersRCV003637627
NM_001918.5(DBT):c.1017+1G>A	SNV Germline	Chr1:100210693	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341334392	rs_1176555925	1 SubmittersRCV003637726
NM_183050.4(BCKDHB):c.274+2T>C	SNV Germline	Chr6:80127626	Likely pathogenic	Maple syrup urine disease Maple syrup urine disease type 1B	Criteria Provided Multiple Submitters No Conflicts	CA364659121	rs_2481559722	2 SubmittersRCV003637856 RCV005036933
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)	SNV Germline	Chr1:100214875	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341337333	rs_2524147444	1 SubmittersRCV003636702
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)	SNV Germline	Chr1:100206273	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA341330028	rs_2524106384	1 SubmittersRCV003636763
NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn)	SNV Germline	Chr19:41422679	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406013364	rs_2513460449	1 SubmittersRCV003636808
NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys)	SNV Germline	Chr19:41422229	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406012787	rs_1303770209	1 SubmittersRCV003823298
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)	SNV Germline	Chr19:41397882	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA406023192	rs_1176952770	1 SubmittersRCV003838017
NM_183050.4(BCKDHB):c.841-1G>T	SNV Germline	Chr6:80203101	Likely pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364660094	rs_962489830	1 SubmittersRCV003855619
NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)	SNV Germline	Chr6:80203193	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter	CA364660294	rs_1452496837	1 SubmittersRCV003865727
NM_001918.5(DBT):c.30G>A (p.Trp10Ter)	SNV Germline	Chr1:100249791	Pathogenic/Likely pathogenic	Maple syrup urine disease type 2 Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts	CA341348427	rs_1250753300	2 SubmittersRCV003988751 RCV005064936
NM_001918.5(DBT):c.1199A>G (p.Asn400Ser)	SNV Germline	Chr1:100206455	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter	CA341330321	rs_1661797008	1 SubmittersRCV003990261
NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)	SNV Germline	Chr1:100196358	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter	CA341351568	rs_2524063471	1 SubmittersRCV003990960
NM_001918.5(DBT):c.1274C>G (p.Ser425Ter)	SNV Germline	Chr1:100206237	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter	CA341329753	rs_2524106032	1 SubmittersRCV004527510
NM_152542.5(PPM1K):c.1A>G (p.Met1Val)	SNV Germline	Chr4:88278583	Pathogenic	Maple syrup urine disease, mild variant	No Assertion Criteria Provided		rs_2476675975	1 SubmittersRCV004556889
NM_001918.5(DBT):c.881T>G (p.Leu294Ter)	SNV Germline	Chr1:100214875	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter		rs_2524147444	1 SubmittersRCV004576125
NM_001918.5(DBT):c.176-1G>A	SNV Germline	Chr1:100235512	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter		rs_1663814857	1 SubmittersRCV004576126
NM_000709.4(BCKDHA):c.376-2A>C	SNV Unknown	Chr19:41414047	Likely pathogenic	Maple syrup urine disease type 1A	Criteria Provided Single Submitter		rs_1322799946	1 SubmittersRCV004575398
NM_183050.4(BCKDHB):c.831G>C (p.Trp277Cys)	SNV Germline	Chr6:80201022	Conflicting classifications of pathogenicity	not specified Maple syrup urine disease type 1B	Criteria Provided Conflicting Classifications		rs_1174121102	2 SubmittersRCV004586134 RCV005040705
NM_183050.4(BCKDHB):c.598C>G (p.Pro200Ala)	SNV Germline	Chr6:80168995	Conflicting classifications of pathogenicity	not specified Maple syrup urine disease type 1B	Criteria Provided Conflicting Classifications		rs_148582754	2 SubmittersRCV004586270 RCV005038730
NM_183050.4(BCKDHB):c.833G>A (p.Gly278Asp)	SNV Germline	Chr6:80201024	Likely pathogenic	Maple syrup urine disease type 1B	Criteria Provided Single Submitter		rs_2482243041	1 SubmittersRCV004586426
NM_183050.4(BCKDHB):c.547C>G (p.Arg183Gly)	SNV Germline	Chr6:80168944	Likely pathogenic	Maple syrup urine disease type 1B Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005038771 RCV004690540
NM_000709.4(BCKDHA):c.868G>C (p.Gly290Arg)	SNV Germline	Chr19:41422643	Likely pathogenic	Maple syrup urine disease type 1A	Criteria Provided Single Submitter			1 SubmittersRCV004821434
NM_000709.4(BCKDHA):c.853G>T (p.Ala285Ser)	SNV Germline	Chr19:41422370	Likely pathogenic	Maple syrup urine disease type 1A	Criteria Provided Single Submitter			1 SubmittersRCV005015762
NM_183050.4(BCKDHB):c.199C>T (p.Gln67Ter)	SNV Germline	Chr6:80127549	Likely pathogenic	Maple syrup urine disease type 1B	Criteria Provided Single Submitter			1 SubmittersRCV005033510
NM_183050.4(BCKDHB):c.272C>T (p.Ala91Val)	SNV Germline	Chr6:80127622	Likely pathogenic	Maple syrup urine disease type 1B	Criteria Provided Single Submitter			1 SubmittersRCV005045858
NM_183050.4(BCKDHB):c.329T>A (p.Leu110Ter)	SNV Germline	Chr6:80129215	Likely pathogenic	Maple syrup urine disease type 1B	Criteria Provided Single Submitter			1 SubmittersRCV005033511
NM_183050.4(BCKDHB):c.665A>G (p.Lys222Arg)	SNV Germline	Chr6:80171313	Likely pathogenic	Maple syrup urine disease type 1B	Criteria Provided Single Submitter			1 SubmittersRCV005033514
NM_001918.5(DBT):c.437C>G (p.Ser146Ter)	SNV Germline	Chr1:100218744	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV005019851
NM_001918.5(DBT):c.252G>A (p.Trp84Ter)	SNV Germline	Chr1:100230914	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV005015360
NM_001918.5(DBT):c.252-1G>A	SNV Germline	Chr1:100230915	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV005015694
NM_001918.5(DBT):c.1282-1G>A	SNV Germline	Chr1:100196423	Likely pathogenic	Maple syrup urine disease type 2	Criteria Provided Single Submitter			1 SubmittersRCV005006809
NM_001918.5(DBT):c.1281+1G>A	SNV Germline	Chr1:100206229	Pathogenic/Likely pathogenic	Maple syrup urine disease type 2 Maple syrup urine disease	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005009156 RCV005112549
NM_001918.5(DBT):c.1087C>T (p.Gln363Ter)	SNV Germline	Chr1:100206567	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV005126138
NM_000709.4(BCKDHA):c.124C>T (p.Gln42Ter)	SNV Germline	Chr19:41410652	Pathogenic	Maple syrup urine disease	Criteria Provided Single Submitter			1 SubmittersRCV005187423
NM_183050.4(BCKDHB):c.551C>T (p.Ser184Phe)	SNV Germline	Chr6:80168948	Likely pathogenic	Condition: not provided Maple syrup urine disease type 1B	Criteria Provided Single Submitter			2 SubmittersRCV005244920 RCV005610830
NM_000709.4(BCKDHA):c.1270C>T (p.Gln424Ter)	SNV Germline	Chr19:41424540	Likely pathogenic	Maple syrup urine disease type 1A	No Assertion Criteria Provided			1 SubmittersRCV005610467
NM_183050.4(BCKDHB):c.304G>T (p.Gly102Ter)	SNV Germline	Chr6:80129190	Likely pathogenic	Maple syrup urine disease type 1B	No Assertion Criteria Provided			1 SubmittersRCV005610499

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

SNV
Germline

Chr19:41424582

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA115507

rs_137852870

19 SubmittersRCV000002473 RCV000079229 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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA115512

rs_137852873

8 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

5 SubmittersRCV001064270 RCV001818118 RCV004566673

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

SNV
Germline

Chr19:41422704

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA115518

rs_137852875

5 SubmittersRCV000179776 RCV002222336 RCV005016224

NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)

SNV
Germline

Chr19:41422309

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA115521

rs_137852876

4 SubmittersRCV002512677 RCV005024992

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 type 1B
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA121791

rs_121965004

3 SubmittersRCV003534309 RCV003460460

NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)

SNV
Germline

Chr6:80167690

Pathogenic

Maple syrup urine disease type 1B

No Assertion Criteria Provided

CA121794

rs_121965005

1 SubmittersRCV003534310

NM_001918.5(DBT):c.827T>G (p.Phe276Cys)

SNV
Germline

Chr1:100214929

Pathogenic/Likely pathogenic

Condition: not provided
Maple syrup urine disease
See cases
Maple syrup urine disease type 2
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA121797

rs_121964999

13 SubmittersRCV000079957 RCV000179835 RCV002251898 RCV003581558 RCV004566722

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

SNV
Germline

Chr1:100207186

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA212933

rs_796052135

8 SubmittersRCV000668558 RCV003415688 RCV003581560 RCV004566723

NM_001918.5(DBT):c.1448G>T (p.Ter483Leu)

SNV
Germline

Chr1:100196256

Pathogenic

Maple syrup urine disease type 2

No Assertion Criteria Provided

CA121800

rs_121965000

1 SubmittersRCV003581561

NM_001918.5(DBT):c.294C>G (p.Ile98Met)

SNV
Germline

Chr1:100230872

Pathogenic

Maple syrup urine disease type 2

No Assertion Criteria Provided

CA121802

rs_121965001

1 SubmittersRCV003581562

NM_001918.5(DBT):c.1355A>G (p.His452Arg)

SNV
Germline

Chr1:100196349

Pathogenic

Maple syrup urine disease type 2

No Assertion Criteria Provided

CA121804

rs_121965002

1 SubmittersRCV003581564

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

SNV
Germline

Chr1:100216174

Pathogenic

Maple syrup urine disease type 2

No Assertion Criteria Provided

CA121806

rs_121965003

1 SubmittersRCV000012731

NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)

SNV
Germline

Chr6:80343739

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224253

rs_386834234

4 SubmittersRCV000056007 RCV000790721 RCV005430116

NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)

SNV
Germline

Chr6:80201023

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Condition: not provided
Maple syrup urine disease type 1A
BCKDHB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA224347

rs_386834233

18 SubmittersRCV000056009 RCV000587416 RCV000762424 RCV004566908 RCV004751250

NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)

SNV
Germline

Chr19:41423038

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221176

rs_182923857

6 SubmittersRCV000180181 RCV000790743 RCV004566947 RCV004700391

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221182

rs_398123490

12 SubmittersRCV000180522 RCV000790815 RCV000853374 RCV002514392

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
Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221193

rs_398123497

8 SubmittersRCV000175638 RCV000790795 RCV001275910

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221196

rs_398123498

5 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

5 SubmittersRCV000179338 RCV000819695 RCV004566951

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

SNV
Germline

Chr19:41422370

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221220

rs_398123508

9 SubmittersRCV000079257 RCV000179337 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
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA221222

rs_200137189

9 SubmittersRCV000079259 RCV000664897 RCV004566952

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

SNV
Germline

Chr19:41422680

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221224

rs_398123509

6 SubmittersRCV000179780 RCV001283857 RCV004813052

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

Criteria Provided
Conflicting Classifications

CA221232

rs_398123514

6 SubmittersRCV000079268 RCV000723468 RCV001079760 RCV001826715 RCV005520238

NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)

SNV
Germline

Chr19:41422754

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA221234

rs_398123515

9 SubmittersRCV000179779 RCV000790719 RCV001275918

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

SNV
Germline

Chr1:100196413

Pathogenic

Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 2
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA221874

rs_398123660

7 SubmittersRCV000174059 RCV000790685 RCV005003455 RCV005430117

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
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA221891

rs_398123669

4 SubmittersRCV000173266 RCV001377582 RCV005016361

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

13 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
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA275397

rs_185492864

12 SubmittersRCV000079959 RCV000179836 RCV004566955 RCV005003456

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

SNV
Germline

Chr1:100214817

Pathogenic

Maple syrup urine disease
Condition: not provided
Maple syrup urine disease type 1A
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA221905

rs_398123676

8 SubmittersRCV000179839 RCV000790732 RCV005430119 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

9 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

11 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

4 SubmittersRCV000082725 RCV000811483

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

SNV
Germline

Chr6:80129188

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224266

rs_398124571

5 SubmittersRCV000177427 RCV001162146 RCV005031573

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

SNV
Germline

Chr6:80129228

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224273

rs_398124573

5 SubmittersRCV000177426 RCV000790829 RCV004566962

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

SNV
Germline

Chr6:80168876

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA224280

rs_398124576

3 SubmittersRCV000179044 RCV003317084 RCV002514448

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

SNV
Germline

Chr6:80168899

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA224289

rs_398124579

7 SubmittersRCV000082744 RCV000818306 RCV005031574 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 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA224298

rs_398124581

3 SubmittersRCV000179045 RCV005042198 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
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA224304

rs_371518124

8 SubmittersRCV000082749 RCV000179047 RCV004566966 RCV005042199

NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)

SNV
Germline

Chr6:80168906

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
Inborn genetic diseases
BCKDHB-related disorder

Criteria Provided
Conflicting Classifications

CA224306

rs_371518124

5 SubmittersRCV000082750 RCV000631889 RCV002513855 RCV004751259

NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)

SNV
Germline

Chr6:80168923

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224309

rs_398124582

6 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 type 1B
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA224315

rs_149766077

8 SubmittersRCV000082753 RCV001831891 RCV001857396

NM_183050.4(BCKDHB):c.587A>T (p.His196Leu)

SNV
Germline

Chr6:80168984

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA224321

rs_398124585

2 SubmittersRCV000082756 RCV003114246

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
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA224330

rs_398124589

9 SubmittersRCV000179048 RCV000811119 RCV004566968 RCV005031576

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224341

rs_398124593

7 SubmittersRCV000180018 RCV000586350 RCV000790839 RCV005430491

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

SNV
Germline

Chr6:80200990

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA274241

rs_398124594

8 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224349

rs_398124596

3 SubmittersRCV000180019 RCV000790653 RCV005430122

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

SNV
Germline

Chr6:80203114

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA224353

rs_398124598

11 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

12 SubmittersRCV000169351 RCV000790773 RCV000779833 RCV004566973

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

SNV
Germline

Chr6:80273157

Likely pathogenic

Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA224365

rs_398124604

2 SubmittersRCV000790833 RCV005430492

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

SNV
Germline

Chr1:100230801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233879

rs_727503896

4 SubmittersRCV000153139 RCV004567174 RCV002516075

NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg)

SNV
Germline

Chr6:80343769

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233527

rs_727503822

6 SubmittersRCV000152850 RCV001261643 RCV004527362 RCV004689628 RCV005042296

NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)

SNV
Germline

Chr19:41424521

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
Inborn genetic diseases
BCKDHA-related disorder

Criteria Provided
Conflicting Classifications

CA233525

rs_147021347

8 SubmittersRCV000723905 RCV001084720 RCV003162622 RCV004752758

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

SNV
Germline

Chr1:100240810

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA275073

rs_794727262

4 SubmittersRCV000175709 RCV000724185 RCV005430258

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
BCKDHA-related disorder

Criteria Provided
Conflicting Classifications

CA247553

rs_373390136

6 SubmittersRCV000180183 RCV000724666 RCV001078509 RCV001835710 RCV004730897

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

SNV
Germline

Chr6:80171289

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA312368

rs_796051940

4 SubmittersRCV002008695 RCV004571908 RCV005042647

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

SNV
Germline

Chr6:80273205

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
not specified

Criteria Provided
Conflicting Classifications

CA312365

rs_796051939

5 SubmittersRCV000185797 RCV000209023 RCV005431536

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
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA279886

rs_863225262

5 SubmittersRCV000202366 RCV005025306

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
Maple syrup urine disease type 1A
not specified

Criteria Provided
Conflicting Classifications

CA354910

rs_869312126

4 SubmittersRCV000209422 RCV005430511 RCV005406951

NM_183050.4(BCKDHB):c.401T>A (p.Ile134Asn)

SNV
Germline

Chr6:80167735

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA354928

rs_869312130

1 SubmittersRCV000209826

NM_183050.4(BCKDHB):c.554C>T (p.Pro185Leu)

SNV
Germline

Chr6:80168951

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA354920

rs_148905512

1 SubmittersRCV000209747

NM_183050.4(BCKDHB):c.964A>G (p.Thr322Ala)

SNV
Germline

Chr6:80273147

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA354915

rs_869312131

1 SubmittersRCV000209523

NM_001918.5(DBT):c.1033G>A (p.Gly345Arg)

SNV
Germline

Chr1:100206621

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA354965

rs_869312132

1 SubmittersRCV000209922

NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)

SNV
Germline

Chr19:41422715

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA354952

rs_753698250

10 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
not specified

Criteria Provided
Conflicting Classifications

CA10604119

rs_886042356

4 SubmittersRCV000351654 RCV001859557 RCV005055819

NM_183050.4(BCKDHB):c.290A>T (p.Asp97Val)

SNV
Germline

Chr6:80129176

Likely pathogenic

Condition: not provided
Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

CA10605114

rs_886043103

2 SubmittersRCV000392751 RCV005606660

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9460973

rs_140322984

7 SubmittersRCV000302671 RCV001275905 RCV001544681 RCV003972391 RCV004601158

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
not specified
BCKDHA-related disorder

Criteria Provided
Conflicting Classifications

CA9461400

rs_374403946

8 SubmittersRCV000306729 RCV001705494 RCV002348073 RCV005434836 RCV004752855

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

SNV
Germline

Chr1:100216030

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16040653

rs_201559874

3 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 1A
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA3902601

rs_776631396

7 SubmittersRCV000410485 RCV004567884 RCV001828375

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

SNV
Germline

Chr6:80168884

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA16041095

rs_1057516799

6 SubmittersRCV000409047 RCV000780960 RCV005430323

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

SNV
Germline

Chr6:80201032

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA16041097

rs_760538465

2 SubmittersRCV000411423 RCV005430297

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

SNV
Germline

Chr6:80201032

Pathogenic

Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA3902769

rs_760538465

2 SubmittersRCV000578568 RCV005430294

NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)

SNV
Germline

Chr19:41410665

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA9461009

rs_376456598

5 SubmittersRCV000409408 RCV004567877

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

SNV
Germline

Chr6:80171285

Likely pathogenic

Condition: not provided
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA16604994

rs_994415333

2 SubmittersRCV000429032 RCV005430535

NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)

SNV
Germline

Chr6:80167699

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

No Assertion Criteria Provided

CA16609445

rs_398124575

2 SubmittersRCV000449606 RCV005430537

NM_183050.4(BCKDHB):c.1090G>A (p.Asp364Asn)

SNV
Germline

Chr6:80343715

Likely pathogenic

Maple syrup urine disease

No Assertion Criteria Provided

CA16609446

rs_1060499715

1 SubmittersRCV000449516

NM_001918.5(DBT):c.401C>T (p.Pro134Leu)

SNV
Germline

Chr1:100230765

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341343716

rs_1131691488

4 SubmittersRCV000493274 RCV000984157 RCV005430540

NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)

SNV
Germline

Chr6:80273178

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
BCKDHB-related disorder
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA365009178

rs_1554205541

8 SubmittersRCV000498242 RCV000530607 RCV003419842 RCV005430542

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

SNV
Germline

Chr19:41422163

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9461229

rs_753216964

8 SubmittersRCV000498679 RCV000670031 RCV005018835

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA364659123

rs_1554184224

3 SubmittersRCV000523329 RCV000671012 RCV005430544

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

SNV
Germline

Chr1:100214884

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341337383

rs_775808731

4 SubmittersRCV000535685 RCV001844190 RCV005430545

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

SNV
Germline

Chr6:80168900

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA364657743

rs_749033513

6 SubmittersRCV000553115 RCV001829563 RCV005430546

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
BCKDHB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3902600

rs_751953459

10 SubmittersRCV000589594 RCV000732154 RCV001796129 RCV001814191 RCV004568308 RCV004730986

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

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA142284037

rs_79761867

4 SubmittersRCV000631894 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 2
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA341330307

rs_1449113689

6 SubmittersRCV000668260 RCV004526740 RCV005004334 RCV004568514

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

SNV
Germline

Chr1:100206459

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA341330332

rs_1553229654

2 SubmittersRCV000666706 RCV005430445

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

SNV
Germline

Chr1:100196322

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA341351426

rs_1553228626

2 SubmittersRCV000673281 RCV005430762

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

SNV
Germline

Chr1:100196304

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA969456

rs_767760099

3 SubmittersRCV000669588 RCV000760490 RCV005430630

NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)

SNV
Germline

Chr1:100206528

Conflicting classifications of pathogenicity

Maple syrup urine disease
Condition: not provided
not specified
Maple syrup urine disease type 1A
Maple syrup urine disease type 2

Criteria Provided
Conflicting Classifications

CA969568

rs_768389398

6 SubmittersRCV000670216 RCV001092053 RCV001797779 RCV005430659 RCV005010662

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

SNV
Germline

Chr1:100214968

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA341337997

rs_1553230703

2 SubmittersRCV000667766 RCV005430575

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

SNV
Unknown

Chr1:100218625

Likely pathogenic

Maple syrup urine disease type 1A

No Assertion Criteria Provided

CA341340441

rs_1553231037

1 SubmittersRCV005430714

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

SNV
Germline

Chr1:100218748

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA969740

rs_754004231

2 SubmittersRCV000666893 RCV005430451

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

SNV
Germline

Chr1:100196361

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA969468

rs_749366506

3 SubmittersRCV000672644 RCV005430738

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

SNV
Germline

Chr1:100210694

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A
Condition: not provided
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA419099915

rs_1490661508

5 SubmittersRCV000665137 RCV004568490 RCV005091923 RCV004792358

NM_001918.5(DBT):c.634C>T (p.Gln212Ter)

SNV
Germline

Chr1:100216121

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA341338666

rs_1553230841

4 SubmittersRCV000673717 RCV004568559

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

SNV
Unknown

Chr6:80169031

Likely pathogenic

Maple syrup urine disease type 1A

No Assertion Criteria Provided

CA364658203

rs_398124589

1 SubmittersRCV005430413

NM_183050.4(BCKDHB):c.952-2A>G

SNV
Germline

Chr6:80273133

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA365008741

rs_1554205499

3 SubmittersRCV000665340 RCV004568491

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

SNV
Germline

Chr6:80343774

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA365021597

rs_190867671

4 SubmittersRCV000668675 RCV005430604

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

SNV
Germline

Chr6:80106694

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA364657845

rs_1005542482

5 SubmittersRCV000666521 RCV003987655 RCV005430439

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

SNV
Germline

Chr6:80106862

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA364658399

rs_1554181192

3 SubmittersRCV000671817 RCV005430711

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

SNV
Germline

Chr6:80106874

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA3902516

rs_774916970

2 SubmittersRCV000673646 RCV005430773

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

SNV
Unknown

Chr6:80106890

Likely pathogenic

Maple syrup urine disease type 1A

No Assertion Criteria Provided

CA364658461

rs_1554181203

1 SubmittersRCV005430751

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

SNV
Germline

Chr6:80203101

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA142287792

rs_962489830

3 SubmittersRCV000666534 RCV005046861 RCV005430441

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

SNV
Germline

Chr6:80273171

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA365009112

rs_1224101411

5 SubmittersRCV000673516 RCV005046905 RCV005430769

NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)

SNV
Germline

Chr6:80343692

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA365021410

rs_1304667430

3 SubmittersRCV000672025 RCV004568547

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

SNV
Germline

Chr6:80171391

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA364658788

rs_1554190322

2 SubmittersRCV000672647 RCV005430739

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

SNV
Germline

Chr6:80106695

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA142276824

rs_940391887

3 SubmittersRCV000669039 RCV005430615

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

SNV
Unknown

Chr6:80106890

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA364658460

rs_1554181203

2 SubmittersRCV000672543 RCV005430734

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

SNV
Germline

Chr6:80129231

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA364659278

rs_1554184237

2 SubmittersRCV000672452 RCV005430729

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

SNV
Germline

Chr6:80169031

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA364658206

rs_398124589

5 SubmittersRCV000669008 RCV001829852 RCV005430613

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

SNV
Germline

Chr6:80343784

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3902857

rs_751599203

9 SubmittersRCV000671826 RCV003403562 RCV004568543 RCV005046893

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

SNV
Germline

Chr19:41414148

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA9461152

rs_769688327

2 SubmittersRCV000669276 RCV005430621

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

SNV
Germline

Chr19:41422274

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA9461255

rs_199599175

4 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

CA9461290

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

CA9461294

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
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA308525459

rs_765543886

4 SubmittersRCV000673741 RCV005430776

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

SNV
Unknown

Chr19:41397830

Likely pathogenic

Maple syrup urine disease type 1A

No Assertion Criteria Provided

CA406023089

rs_1555764014

1 SubmittersRCV005430722

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

SNV
Germline

Chr19:41422311

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA308524327

rs_761996996

3 SubmittersRCV000672950 RCV005430752

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

SNV
Unknown

Chr19:41422371

Likely pathogenic

Maple syrup urine disease type 1A

No Assertion Criteria Provided

CA406013104

rs_1555767028

1 SubmittersRCV005430625

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

SNV
Germline

Chr19:41424462

Likely pathogenic

Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA406015257

rs_201168715

2 SubmittersRCV005253051

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

SNV
Germline

Chr19:41410655

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA308515228

rs_374625613

4 SubmittersRCV000665755 RCV005430420

NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)

SNV
Germline

Chr19:41423089

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA308525418

rs_942815730

4 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
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA3902654

rs_774306610

4 SubmittersRCV000704171 RCV001825391 RCV005253084

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

SNV
Germline

Chr19:41397940

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA891843543

rs_1568499702

1 SubmittersRCV000694889

NM_183050.4(BCKDHB):c.498G>C (p.Lys166Asn)

SNV
Germline

Chr6:80168895

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA364657732

rs_1562104211

3 SubmittersRCV000727895 RCV005036042 RCV004526761

NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)

SNV
Germline

Chr6:80200935

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
BCKDHB-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3902752

rs_147719822

6 SubmittersRCV000755846 RCV001080961 RCV003955490 RCV005306143

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

SNV
Unknown

Chr6:80343770

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA365021586

rs_1202365275

1 SubmittersRCV000761470

NM_000709.4(BCKDHA):c.332T>C (p.Leu111Pro)

SNV
Unknown

Chr19:41410966

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406005684

rs_1568503938

1 SubmittersRCV000761534

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

SNV
Germline

Chr1:100206229

Pathogenic/Likely pathogenic

Maple syrup urine disease type 1A
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341329699

rs_1557943881

2 SubmittersRCV004577341 RCV004798867

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

SNV
Germline

Chr19:41423071

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA9461364

rs_762199542

1 SubmittersRCV000785061

NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp)

SNV
Germline

Chr6:80106889

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658457

rs_1328608014

1 SubmittersRCV000822086

NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)

SNV
Germline

Chr19:41424522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9461414

rs_368567109

5 SubmittersRCV000806773 RCV001830757 RCV002534833 RCV005004437

NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)

SNV
Germline

Chr19:41422261

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9461252

rs_137960127

5 SubmittersRCV000872380 RCV001273308 RCV004962893

NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)

SNV
Germline

Chr6:80167745

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Conflicting Classifications

CA3902602

rs_142858149

3 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

CA3902660

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

Criteria Provided
Conflicting Classifications

CA9461081

rs_142967869

6 SubmittersRCV000880930 RCV001273303 RCV002434172 RCV003955819

NM_001918.5(DBT):c.62G>A (p.Arg21His)

SNV
Germline

Chr1:100240874

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA969837

rs_533707792

2 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

CA9461088

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

CA341340708

rs_1570820579

3 SubmittersRCV000986389

NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe)

SNV
Unknown

Chr6:80168875

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364657691

rs_1582275277

1 SubmittersRCV000987746

NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys)

SNV
Unknown

Chr6:80168925

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA3902645

rs_763645251

1 SubmittersRCV000987747

NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu)

SNV
Germline

Chr19:41410927

Conflicting classifications of pathogenicity

Condition: not provided
Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9461080

rs_532803527

4 SubmittersRCV000996931 RCV001471532 RCV004962989

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

SNV
Germline

Chr19:41422170

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406012671

rs_2039372961

2 SubmittersRCV001035319 RCV005401692

NM_183050.4(BCKDHB):c.1038+2T>C

SNV
Germline

Chr6:80273223

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA3902833

rs_762419044

3 SubmittersRCV001067446 RCV001827439

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

SNV
Germline

Chr6:80129230

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364659274

rs_1770503105

1 SubmittersRCV001050317

NM_001918.5(DBT):c.198G>A (p.Gln66=)

SNV
Germline

Chr1:100235489

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA969798

rs_201714436

3 SubmittersRCV001101248

NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)

SNV
Germline

Chr19:41410653

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA9461007

rs_150177278

3 SubmittersRCV001132487

NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)

SNV
Germline

Chr19:41414114

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA507557896

rs_2039284438

2 SubmittersRCV001134883

NM_000709.4(BCKDHA):c.108+12G>A

SNV
Germline

Chr19:41397947

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA9460983

rs_780834493

2 SubmittersRCV001129780

NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)

SNV
Germline

Chr6:80171380

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA3902717

rs_537988425

3 SubmittersRCV001164159

NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)

SNV
Germline

Chr6:80106694

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA142276823

rs_1005542482

4 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

CA3902576

rs_371117671

6 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

CA406015139

rs_2039405116

2 SubmittersRCV001197612

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

SNV
Germline

Chr6:80171306

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

CA364658553

rs_1772902148

2 SubmittersRCV001224152 RCV005606779

NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)

SNV
Germline

Chr6:80168893

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364657727

rs_1772735425

5 SubmittersRCV001203795

NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter)

SNV
Germline

Chr6:80200936

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364659888

rs_1774361781

1 SubmittersRCV001212982

NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser)

SNV
Germline

Chr19:41414157

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406008475

rs_2039285328

1 SubmittersRCV001209953

NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)

SNV
Germline

Chr19:41423063

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406013881

rs_1214763792

3 SubmittersRCV001204854

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

SNV
Germline

Chr19:41411001

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

CA406006048

rs_2039247540

2 SubmittersRCV001235560 RCV005606784

NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)

SNV
Germline

Chr19:41423096

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA9461368

rs_375957868

3 SubmittersRCV001240489 RCV001828952

NM_183050.4(BCKDHB):c.951+1G>A

SNV
Germline

Chr6:80203213

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA3902795

rs_756647770

2 SubmittersRCV001232495 RCV004570581

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

SNV
Germline

Chr19:41423170

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406014325

rs_2039389302

1 SubmittersRCV001244572

NM_001918.5(DBT):c.1184C>T (p.Thr395Ile)

SNV
Germline

Chr1:100206470

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341330369

rs_1661797765

1 SubmittersRCV001255378

NM_001918.5(DBT):c.252G>T (p.Trp84Cys)

SNV
Germline

Chr1:100230914

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA969783

rs_200638406

2 SubmittersRCV001255379 RCV004570647

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

SNV
Germline

Chr1:100206444

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341330272

rs_1661795778

1 SubmittersRCV001255380

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

SNV
Germline

Chr19:41422257

Conflicting classifications of pathogenicity

Maple syrup urine disease
not specified

Criteria Provided
Conflicting Classifications

CA406012849

rs_1468416468

3 SubmittersRCV001262490 RCV005057176

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

SNV
Unknown

Chr1:100206446

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341330277

rs_1661796496

1 SubmittersRCV001264214

NM_001918.5(DBT):c.961C>T (p.Gln321Ter)

SNV
Germline

Chr1:100210750

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA341335030

rs_1662088383

3 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

CA341344377

rs_1663520073

1 SubmittersRCV001263640

NM_001918.5(DBT):c.209C>A (p.Ser70Ter)

SNV
Unknown

Chr1:100235478

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341345478

rs_398123664

1 SubmittersRCV001263641

NM_001918.5(DBT):c.196C>T (p.Gln66Ter)

SNV
Unknown

Chr1:100235491

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341345547

rs_1663814011

1 SubmittersRCV001263642

NM_001918.5(DBT):c.187C>T (p.Gln63Ter)

SNV
Unknown

Chr1:100235500

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341345602

rs_1663814241

1 SubmittersRCV001263643

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

SNV
Unknown

Chr1:100240810

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341346937

rs_794727262

1 SubmittersRCV001263644

NM_001918.5(DBT):c.70C>T (p.Gln24Ter)

SNV
Unknown

Chr1:100240866

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341347132

rs_1664173086

1 SubmittersRCV001263645

NM_183050.4(BCKDHB):c.352A>T (p.Arg118Ter)

SNV
Unknown

Chr6:80167686

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364660363

rs_1772645594

1 SubmittersRCV001263564

NM_183050.4(BCKDHB):c.501T>G (p.Tyr167Ter)

SNV
Unknown

Chr6:80168898

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364657739

rs_1772736212

1 SubmittersRCV001263565

NM_183050.4(BCKDHB):c.625G>T (p.Gly209Ter)

SNV
Unknown

Chr6:80169022

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658160

rs_1389512878

1 SubmittersRCV001263566

NM_183050.4(BCKDHB):c.732C>A (p.Tyr244Ter)

SNV
Unknown

Chr6:80171380

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658766

rs_537988425

1 SubmittersRCV001263567

NM_183050.4(BCKDHB):c.790G>T (p.Glu264Ter)

SNV
Unknown

Chr6:80200981

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364659984

rs_933828560

1 SubmittersRCV001263852

NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)

SNV
Germline

Chr6:80201021

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364660064

rs_1774369632

2 SubmittersRCV001263853

NM_000709.4(BCKDHA):c.196G>T (p.Glu66Ter)

SNV
Unknown

Chr19:41410724

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406004719

rs_2039242789

2 SubmittersRCV001264340

NM_000709.4(BCKDHA):c.405T>A (p.Tyr135Ter)

SNV
Unknown

Chr19:41414078

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406007811

rs_1459441231

1 SubmittersRCV001264341

NM_000709.4(BCKDHA):c.585C>A (p.Tyr195Ter)

SNV
Unknown

Chr19:41419235

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406010977

rs_575806482

1 SubmittersRCV001263561

NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)

SNV
Germline

Chr19:41422229

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406012789

rs_1303770209

3 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

CA406013419

rs_2039381583

1 SubmittersRCV001263563

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

SNV
Germline

Chr6:80167744

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA364660495

rs_776631396

3 SubmittersRCV001381550

NM_000709.4(BCKDHA):c.995+1G>A

SNV
Germline

Chr19:41422771

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406013556

rs_2039383036

2 SubmittersRCV002642394 RCV004571195

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

SNV
Germline

Chr1:100206229

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341329702

rs_1557943881

1 SubmittersRCV001379050

NM_001918.5(DBT):c.252-1G>T

SNV
Germline

Chr1:100230915

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341344566

rs_1663522846

1 SubmittersRCV001377757

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

SNV
Germline

Chr1:100240885

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341347204

rs_755914063

2 SubmittersRCV001379105

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

SNV
Germline

Chr19:41410636

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406004413

rs_2123253583

2 SubmittersRCV001378292

NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)

SNV
Germline

Chr19:41422311

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA308524323

rs_761996996

3 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

CA406015371

rs_2098470870

1 SubmittersRCV001378139

NM_001918.5(DBT):c.1281+2T>A

SNV
Germline

Chr1:100206228

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341329695

rs_2100779270

1 SubmittersRCV001390159

NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg)

SNV
Germline

Chr6:80106889

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658456

rs_1328608014

1 SubmittersRCV001380845

NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)

SNV
Germline

Chr19:41410658

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406004562

rs_1220443382

1 SubmittersRCV001380797

NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter)

SNV
Germline

Chr19:41422659

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406013322

rs_1318419473

1 SubmittersRCV001387039

NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)

SNV
Germline

Chr19:41424576

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406015648

rs_1298823471

2 SubmittersRCV001385732

NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)

SNV
Germline

Chr19:41397862

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9460967

rs_769659202

2 SubmittersRCV001414007 RCV004038111

NM_000709.4(BCKDHA):c.1070A>G (p.Gln357Arg)

SNV
Germline

Chr19:41423072

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA9461365

rs_185688419

2 SubmittersRCV001409138 RCV005023157

NM_000709.4(BCKDHA):c.1286G>A (p.Arg429His)

SNV
Germline

Chr19:41424556

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9461422

rs_143065803

2 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

CA969477

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

CA969838

rs_755914063

1 SubmittersRCV001780609

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

SNV
Germline

Chr19:41422164

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA9461230

rs_369448982

5 SubmittersRCV001780680 RCV004571095 RCV003892844

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

SNV
Germline

Chr1:100206458

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341330329

rs_2100779875

1 SubmittersRCV001807947

NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)

SNV
Germline

Chr19:41422634

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA9461289

rs_764247545

4 SubmittersRCV001810551 RCV004571110

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

SNV
Germline

Chr19:41414158

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406008486

rs_2122122667

1 SubmittersRCV001837053

NM_001918.5(DBT):c.916T>C (p.Ser306Pro)

SNV
Germline

Chr1:100214840

Pathogenic

Maple syrup urine disease type 2
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341337018

rs_2100797134

4 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

CA341337803

rs_1310427311

1 SubmittersRCV001843390

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

SNV
Germline

Chr19:41424582

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406015686

rs_137852870

3 SubmittersRCV001848605 RCV004764804

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

SNV
Germline

Chr6:80171315

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658601

rs_1248040495

1 SubmittersRCV001936965

NM_183050.4(BCKDHB):c.196G>C (p.Gly66Arg)

SNV
Germline

Chr6:80106889

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658458

rs_1328608014

1 SubmittersRCV001941750

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

SNV
Germline

Chr19:41422325

Likely pathogenic

Maple syrup urine disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9461263

rs_765045050

3 SubmittersRCV002040176 RCV004721001

NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)

SNV
Germline

Chr1:100230870

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341344389

rs_1557956678

1 SubmittersRCV002010688

NM_001918.5(DBT):c.1A>G (p.Met1Val)

SNV
Germline

Chr1:100249820

Conflicting classifications of pathogenicity

Maple syrup urine disease
not specified

Criteria Provided
Conflicting Classifications

CA969877

rs_759312184

2 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

CA9461097

rs_752700457

1 SubmittersRCV002008317

NM_001918.5(DBT):c.311A>T (p.Asp104Val)

SNV
Germline

Chr1:100230855

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341344324

rs_1553232188

1 SubmittersRCV002005492

NM_001918.5(DBT):c.1324C>T (p.Gln442Ter)

SNV
Germline

Chr1:100196380

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341351622

rs_1276927916

1 SubmittersRCV001874647

NM_001918.5(DBT):c.29G>A (p.Trp10Ter)

SNV
Germline

Chr1:100249792

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA969861

rs_572340170

2 SubmittersRCV001919733

NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)

SNV
Germline

Chr19:41423030

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406013814

rs_774735002

1 SubmittersRCV001919750

NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)

SNV
Germline

Chr1:100206279

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341330042

rs_2100779419

1 SubmittersRCV002002443

NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)

SNV
Germline

Chr1:100196320

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA969461

rs_765257706

1 SubmittersRCV001999539

NM_001918.5(DBT):c.175+1G>A

SNV
Germline

Chr1:100240760

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341346749

rs_2100844517

1 SubmittersRCV002011455

NM_001918.5(DBT):c.772+1G>C

SNV
Germline

Chr1:100215982

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341338130

rs_2100799417

1 SubmittersRCV001989113

NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)

SNV
Germline

Chr19:41397860

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406023147

rs_1207966026

1 SubmittersRCV001951278

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

SNV
Germline

Chr19:41422756

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA406013517

rs_2039382789

2 SubmittersRCV002020620 RCV005361921

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

SNV
Germline

Chr19:41422262

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406012858

rs_137852874

1 SubmittersRCV002043368

NM_183050.4(BCKDHB):c.477+1G>A

SNV
Germline

Chr6:80167812

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA142283916

rs_1002472211

2 SubmittersRCV001972711 RCV004571739

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

SNV
Germline

Chr1:100230862

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341344354

rs_2100827593

1 SubmittersRCV001972787

NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln)

SNV
Germline

Chr19:41422635

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA9461291

rs_757457825

1 SubmittersRCV002018388

NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)

SNV
Germline

Chr6:80273220

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA365009409

rs_2127965290

2 SubmittersRCV002033600

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

SNV
Germline

Chr1:100196319

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA969460

rs_750594890

5 SubmittersRCV001918341 RCV005050453

NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val)

SNV
Germline

Chr6:80167726

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA364660459

rs_774472182

4 SubmittersRCV001918259 RCV004571587 RCV005038483

NM_001918.5(DBT):c.206T>C (p.Leu69Pro)

SNV
Germline

Chr1:100235481

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341345493

rs_1663813561

3 SubmittersRCV002022420

NM_000709.4(BCKDHA):c.996-2A>G

SNV
Germline

Chr19:41422996

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406013729

rs_2122146208

2 SubmittersRCV001984178

NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly)

SNV
Germline

Chr19:41422275

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406012889

rs_1213596075

1 SubmittersRCV002043878

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

SNV
Germline

Chr19:41422293

Conflicting classifications of pathogenicity

Maple syrup urine disease
not specified

Criteria Provided
Conflicting Classifications

CA406012929

rs_2122143393

2 SubmittersRCV002024792 RCV004699650

NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)

SNV
Germline

Chr1:100196395

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA969473

rs_772490888

2 SubmittersRCV002209091

NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)

SNV
Germline

Chr19:41422260

Conflicting classifications of pathogenicity

Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA308524255

rs_887411374

2 SubmittersRCV002248980

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

SNV
Germline

Chr19:41414127

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406008194

rs_2122122610

3 SubmittersRCV002249293 RCV005017161

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

SNV
Germline

Chr6:80343662

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA365021339

rs_2128020522

2 SubmittersRCV002249294 RCV005042756

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

SNV
Germline

Chr6:80273174

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA365009145

rs_1777825845

3 SubmittersRCV002254500 RCV003094176 RCV005042760

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

SNV
Germline

Chr19:41422972

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9461348

rs_757986569

5 SubmittersRCV002274682 RCV004700711 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

CA406015445

rs_1437382824

2 SubmittersRCV002308594

NM_000709.4(BCKDHA):c.469C>T (p.Gln157Ter)

SNV
Unknown

Chr19:41414142

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406008318

rs_2513454434

1 SubmittersRCV002309961

NM_183050.4(BCKDHB):c.949A>T (p.Lys317Ter)

SNV
Unknown

Chr6:80203210

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364660334

rs_2482270092

1 SubmittersRCV002308084

NM_001918.5(DBT):c.904G>T (p.Gly302Ter)

SNV
Unknown

Chr1:100214852

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341337097

rs_2524147212

1 SubmittersRCV002309061

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

SNV
Unknown

Chr19:41410952

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406005527

rs_2513452367

1 SubmittersRCV002310105

NM_001918.5(DBT):c.131C>G (p.Ser44Ter)

SNV
Unknown

Chr1:100240805

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341346926

rs_2524255388

1 SubmittersRCV002310271

NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)

SNV
Germline

Chr19:41410781

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406004912

rs_2513452174

2 SubmittersRCV002310363

NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly)

SNV
Germline

Chr6:80171294

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658493

rs_2481919576

1 SubmittersRCV003060065

NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)

SNV
Germline

Chr6:80200958

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA364659935

rs_1384040769

2 SubmittersRCV003060066 RCV004572723

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

SNV
Germline

Chr19:41422317

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Conflicting Classifications

CA406012979

rs_1568508047

4 SubmittersRCV003064585 RCV005019592

NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)

SNV
Germline

Chr6:80168981

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA142284038

rs_1009457715

2 SubmittersRCV003061178 RCV004572740

NM_001918.5(DBT):c.16A>G (p.Met6Val)

SNV
Germline

Chr1:100249805

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA969866

rs_749693779

2 SubmittersRCV003077628 RCV005552872

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

SNV
Germline

Chr1:100206252

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA969522

rs_769600540

2 SubmittersRCV003087431 RCV005002948

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

SNV
Germline

Chr19:41422372

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA9461272

rs_558254502

2 SubmittersRCV002579160

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

SNV
Germline

Chr1:100235505

Conflicting classifications of pathogenicity

Inborn genetic diseases
Maple syrup urine disease

Criteria Provided
Conflicting Classifications

CA969799

rs_199954954

2 SubmittersRCV004073091 RCV003092610

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

SNV
Germline

Chr19:41419216

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406010931

rs_1200370519

1 SubmittersRCV002621450

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

SNV
Germline

Chr1:100206302

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341330200

rs_1271011315

1 SubmittersRCV002618811

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

SNV
Germline

Chr19:41419157

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA9461190

rs_754613642

3 SubmittersRCV002736209 RCV005019359

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

SNV
Germline

Chr6:80127545

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658941

rs_869312127

1 SubmittersRCV002834329

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

SNV
Germline

Chr6:80168982

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364657960

rs_2481900188

1 SubmittersRCV002837888

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

SNV
Germline

Chr6:80127546

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658944

rs_2481557966

1 SubmittersRCV002829324

NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)

SNV
Germline

Chr19:41422681

Conflicting classifications of pathogenicity

Maple syrup urine disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA406013369

rs_2513460454

2 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

CA406013367

rs_398123509

1 SubmittersRCV002903690

NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)

SNV
Germline

Chr19:41414052

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9461126

rs_779792601

2 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

CA969646

rs_775808731

1 SubmittersRCV002928850

NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)

SNV
Germline

Chr6:80203204

Conflicting classifications of pathogenicity

Maple syrup urine disease
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA364660319

rs_1774481189

2 SubmittersRCV002979501 RCV005522754

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

SNV
Germline

Chr1:100216174

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341338973

rs_121965003

1 SubmittersRCV002996120

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

SNV
Germline

Chr19:41410805

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406005057

rs_753452195

1 SubmittersRCV003014725

NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)

SNV
Germline

Chr6:80168977

Pathogenic/Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA364657941

rs_2481900030

2 SubmittersRCV003149167

NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)

SNV
Germline

Chr19:41397859

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406023144

rs_2513443827

2 SubmittersRCV003155795

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

SNV
Germline

Chr1:100218748

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341340729

rs_754004231

1 SubmittersRCV003317816

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

SNV
Germline

Chr1:100249769

Conflicting classifications of pathogenicity

Maple syrup urine disease
Maple syrup urine disease type 2

Criteria Provided
Conflicting Classifications

CA341348355

rs_398123669

3 SubmittersRCV003445371 RCV005021971

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

SNV
Unknown

Chr19:41422768

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406013547

rs_904711508

1 SubmittersRCV003465150

NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)

SNV
Germline

Chr19:41419135

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA406010420

rs_1251140817

4 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

CA406007562

rs_2513454323

1 SubmittersRCV003465153

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

SNV
Germline

Chr19:41414047

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406007556

rs_1322799946

3 SubmittersRCV003465154 RCV005021988

NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)

SNV
Germline

Chr19:41410942

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA406005439

rs_2513452355

2 SubmittersRCV003465155

NM_000709.4(BCKDHA):c.1238A>G (p.Tyr413Cys)

SNV
Unknown

Chr19:41424508

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406015395

rs_2513462327

1 SubmittersRCV003465157

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

SNV
Germline

Chr19:41422997

Likely pathogenic

Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406013731

rs_2513460977

2 SubmittersRCV004574040

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

SNV
Germline

Chr19:41419179

Pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406010708

rs_2513457448

2 SubmittersRCV003465164 RCV005622238

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

SNV
Germline

Chr6:80201009

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA3902766

rs_769886312

3 SubmittersRCV003465166 RCV005047620

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

SNV
Unknown

Chr6:80169032

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658210

rs_2481901220

1 SubmittersRCV003465167

NM_183050.4(BCKDHB):c.634-2A>G

SNV
Germline

Chr6:80171280

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA364658466

rs_1295567170

2 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

CA364660067

rs_1174121102

1 SubmittersRCV003465176

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

SNV
Unknown

Chr6:80129160

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364659125

rs_2481575908

1 SubmittersRCV003465178

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

SNV
Unknown

Chr6:80106890

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658459

rs_1554181203

1 SubmittersRCV003474337

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

SNV
Unknown

Chr1:100230916

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341344570

rs_1342553753

1 SubmittersRCV003466103

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

SNV
Unknown

Chr1:100230916

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341344572

rs_1342553753

1 SubmittersRCV003466104

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

SNV
Germline

Chr1:100230772

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341343788

rs_2524216359

2 SubmittersRCV003466106

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

SNV
Unknown

Chr1:100206237

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341329754

rs_2524106032

1 SubmittersRCV003466107

NM_001918.5(DBT):c.505C>T (p.Arg169Ter)

SNV
Germline

Chr1:100218676

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341340542

rs_2524164751

2 SubmittersRCV003989846 RCV004574032

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

SNV
Unknown

Chr1:100206522

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA969567

rs_780579655

1 SubmittersRCV003466111

NM_001918.5(DBT):c.250T>C (p.Trp84Arg)

SNV
Unknown

Chr1:100235437

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA27598545

rs_113842781

1 SubmittersRCV003482202

NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)

SNV
Germline

Chr6:80168929

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA364657801

rs_2481898824

2 SubmittersRCV003523262 RCV004574056

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

SNV
Germline

Chr6:80106888

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658455

rs_1402634815

1 SubmittersRCV003522236

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

SNV
Germline

Chr19:41410953

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406005545

rs_749487379

1 SubmittersRCV003524117

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

SNV
Germline

Chr19:41422772

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406013559

rs_2513460625

1 SubmittersRCV003524329

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

SNV
Germline

Chr19:41422371

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406013106

rs_1555767028

1 SubmittersRCV003522340

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

SNV
Germline

Chr6:80343667

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA365021353

rs_989873156

1 SubmittersRCV003525050

NM_000709.4(BCKDHA):c.746G>T (p.Gly249Val)

SNV
Germline

Chr19:41422263

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406012861

rs_796051937

1 SubmittersRCV003523581

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

SNV
Germline

Chr6:80171369

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658742

rs_1159943999

1 SubmittersRCV003525293

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

SNV
Germline

Chr6:80106761

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364658073

rs_2533311576

1 SubmittersRCV003524770

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

SNV
Germline

Chr1:100206638

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341332828

rs_2524109140

1 SubmittersRCV003522766

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

SNV
Germline

Chr1:100215981

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341338125

rs_2524153154

1 SubmittersRCV003522615

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

SNV
Germline

Chr1:100218744

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341340719

rs_2524165275

1 SubmittersRCV003522896

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

SNV
Germline

Chr19:41411010

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406006142

rs_2513452452

1 SubmittersRCV003636350

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

SNV
Germline

Chr19:41423123

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1A

Criteria Provided
Multiple Submitters
No Conflicts

CA406014060

rs_2513461198

2 SubmittersRCV003637121 RCV005014841

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

SNV
Germline

Chr6:80203100

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364660091

rs_2482267558

1 SubmittersRCV003637084

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

SNV
Germline

Chr6:80127625

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA3902555

rs_377722320

1 SubmittersRCV003637221

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

SNV
Germline

Chr1:100230886

Pathogenic/Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341344457

rs_2524217135

2 SubmittersRCV003637243 RCV005014846

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

SNV
Germline

Chr19:41410952

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406005532

rs_2513452367

1 SubmittersRCV003637296

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

SNV
Germline

Chr19:41411011

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA9461098

rs_756052603

1 SubmittersRCV003637812

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

SNV
Germline

Chr1:100210693

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341334391

rs_1176555925

1 SubmittersRCV003637627

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

SNV
Germline

Chr1:100210693

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341334392

rs_1176555925

1 SubmittersRCV003637726

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

SNV
Germline

Chr6:80127626

Likely pathogenic

Maple syrup urine disease
Maple syrup urine disease type 1B

Criteria Provided
Multiple Submitters
No Conflicts

CA364659121

rs_2481559722

2 SubmittersRCV003637856 RCV005036933

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

SNV
Germline

Chr1:100214875

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341337333

rs_2524147444

1 SubmittersRCV003636702

NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)

SNV
Germline

Chr1:100206273

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA341330028

rs_2524106384

1 SubmittersRCV003636763

NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn)

SNV
Germline

Chr19:41422679

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406013364

rs_2513460449

1 SubmittersRCV003636808

NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys)

SNV
Germline

Chr19:41422229

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406012787

rs_1303770209

1 SubmittersRCV003823298

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

SNV
Germline

Chr19:41397882

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA406023192

rs_1176952770

1 SubmittersRCV003838017

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

SNV
Germline

Chr6:80203101

Likely pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364660094

rs_962489830

1 SubmittersRCV003855619

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

SNV
Germline

Chr6:80203193

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

CA364660294

rs_1452496837

1 SubmittersRCV003865727

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

SNV
Germline

Chr1:100249791

Pathogenic/Likely pathogenic

Maple syrup urine disease type 2
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

CA341348427

rs_1250753300

2 SubmittersRCV003988751 RCV005064936

NM_001918.5(DBT):c.1199A>G (p.Asn400Ser)

SNV
Germline

Chr1:100206455

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

CA341330321

rs_1661797008

1 SubmittersRCV003990261

NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)

SNV
Germline

Chr1:100196358

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

CA341351568

rs_2524063471

1 SubmittersRCV003990960

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

SNV
Germline

Chr1:100206237

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

CA341329753

rs_2524106032

1 SubmittersRCV004527510

NM_152542.5(PPM1K):c.1A>G (p.Met1Val)

SNV
Germline

Chr4:88278583

Pathogenic

Maple syrup urine disease, mild variant

No Assertion Criteria Provided

rs_2476675975

1 SubmittersRCV004556889

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

SNV
Germline

Chr1:100214875

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

rs_2524147444

1 SubmittersRCV004576125

NM_001918.5(DBT):c.176-1G>A

SNV
Germline

Chr1:100235512

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

rs_1663814857

1 SubmittersRCV004576126

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

SNV
Unknown

Chr19:41414047

Likely pathogenic

Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

rs_1322799946

1 SubmittersRCV004575398

NM_183050.4(BCKDHB):c.831G>C (p.Trp277Cys)

SNV
Germline

Chr6:80201022

Conflicting classifications of pathogenicity

not specified
Maple syrup urine disease type 1B

Criteria Provided
Conflicting Classifications

rs_1174121102

2 SubmittersRCV004586134 RCV005040705

NM_183050.4(BCKDHB):c.598C>G (p.Pro200Ala)

SNV
Germline

Chr6:80168995

Conflicting classifications of pathogenicity

not specified
Maple syrup urine disease type 1B

Criteria Provided
Conflicting Classifications

rs_148582754

2 SubmittersRCV004586270 RCV005038730

NM_183050.4(BCKDHB):c.833G>A (p.Gly278Asp)

SNV
Germline

Chr6:80201024

Likely pathogenic

Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

rs_2482243041

1 SubmittersRCV004586426

NM_183050.4(BCKDHB):c.547C>G (p.Arg183Gly)

SNV
Germline

Chr6:80168944

Likely pathogenic

Maple syrup urine disease type 1B
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005038771 RCV004690540

NM_000709.4(BCKDHA):c.868G>C (p.Gly290Arg)

SNV
Germline

Chr19:41422643

Likely pathogenic

Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

1 SubmittersRCV004821434

NM_000709.4(BCKDHA):c.853G>T (p.Ala285Ser)

SNV
Germline

Chr19:41422370

Likely pathogenic

Maple syrup urine disease type 1A

Criteria Provided
Single Submitter

1 SubmittersRCV005015762

NM_183050.4(BCKDHB):c.199C>T (p.Gln67Ter)

SNV
Germline

Chr6:80127549

Likely pathogenic

Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005033510

NM_183050.4(BCKDHB):c.272C>T (p.Ala91Val)

SNV
Germline

Chr6:80127622

Likely pathogenic

Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005045858

NM_183050.4(BCKDHB):c.329T>A (p.Leu110Ter)

SNV
Germline

Chr6:80129215

Likely pathogenic

Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005033511

NM_183050.4(BCKDHB):c.665A>G (p.Lys222Arg)

SNV
Germline

Chr6:80171313

Likely pathogenic

Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

1 SubmittersRCV005033514

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

SNV
Germline

Chr1:100218744

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005019851

NM_001918.5(DBT):c.252G>A (p.Trp84Ter)

SNV
Germline

Chr1:100230914

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005015360

NM_001918.5(DBT):c.252-1G>A

SNV
Germline

Chr1:100230915

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005015694

NM_001918.5(DBT):c.1282-1G>A

SNV
Germline

Chr1:100196423

Likely pathogenic

Maple syrup urine disease type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005006809

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

SNV
Germline

Chr1:100206229

Pathogenic/Likely pathogenic

Maple syrup urine disease type 2
Maple syrup urine disease

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005009156 RCV005112549

NM_001918.5(DBT):c.1087C>T (p.Gln363Ter)

SNV
Germline

Chr1:100206567

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV005126138

NM_000709.4(BCKDHA):c.124C>T (p.Gln42Ter)

SNV
Germline

Chr19:41410652

Pathogenic

Maple syrup urine disease

Criteria Provided
Single Submitter

1 SubmittersRCV005187423

NM_183050.4(BCKDHB):c.551C>T (p.Ser184Phe)

SNV
Germline

Chr6:80168948

Likely pathogenic

Condition: not provided
Maple syrup urine disease type 1B

Criteria Provided
Single Submitter

2 SubmittersRCV005244920 RCV005610830

NM_000709.4(BCKDHA):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr19:41424540

Likely pathogenic

Maple syrup urine disease type 1A

No Assertion Criteria Provided

1 SubmittersRCV005610467

NM_183050.4(BCKDHB):c.304G>T (p.Gly102Ter)

SNV
Germline

Chr6:80129190

Likely pathogenic

Maple syrup urine disease type 1B

No Assertion Criteria Provided

1 SubmittersRCV005610499