Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002225.5(IVD):c.596G>T (p.Gly199Val)	SNV Germline	Chr15:40411600	Pathogenic/Likely pathogenic	Isovaleric acidemia, type I Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA116359	rs_121434285	6 SubmittersRCV000003744 RCV000432851 RCV000984276
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)	SNV Germline	Chr15:40407639	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA252817	rs_34695403	6 SubmittersRCV000003748
NM_002225.5(IVD):c.932C>T (p.Ala311Val)	SNV Germline	Chr15:40415454	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases IVD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252819	rs_28940889	18 SubmittersRCV000003749 RCV000080003 RCV001266807 RCV003952534
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)	SNV Germline	Chr15:40416290	Conflicting classifications of pathogenicity	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency not specified IVD-related disorder	Criteria Provided Conflicting Classifications	CA221929	rs_398123679	7 SubmittersRCV000417380 RCV000557255 RCV005431464 RCV004754295
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)	SNV Germline	Chr15:40416356	Conflicting classifications of pathogenicity	Condition: not provided not specified Isovaleryl-CoA dehydrogenase deficiency IVD-related disorder	Criteria Provided Conflicting Classifications	CA221931	rs_398123680	4 SubmittersRCV000174064 RCV003330425 RCV005007993 RCV004754296
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)	SNV Germline	Chr15:40418174	Conflicting classifications of pathogenicity	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA221933	rs_398123681	3 SubmittersRCV000079996 RCV003607234
NM_002225.5(IVD):c.456+2T>C	SNV Germline	Chr15:40410799	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA221936	rs_398123683	9 SubmittersRCV000178177 RCV000790744
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)	SNV Germline	Chr15:40410699	Pathogenic/Likely pathogenic	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency IVD-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA234134	rs_142761835	11 SubmittersRCV000153385 RCV000169054 RCV003416000 RCV004984685
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)	SNV Germline	Chr15:40407640	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided IVD-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274129	rs_2229311	9 SubmittersRCV000169289 RCV001090731 RCV003927565
NM_002225.5(IVD):c.457-2A>G	SNV Germline	Chr15:40411258	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA273883	rs_771914739	3 SubmittersRCV000169016
NM_002225.5(IVD):c.784+1G>A	SNV Germline	Chr15:40413088	Pathogenic/Likely pathogenic	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA275399	rs_763471771	4 SubmittersRCV000179846 RCV000762946
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)	SNV Germline	Chr15:40407696	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312656	rs_747273828	4 SubmittersRCV001779516
NM_002225.5(IVD):c.286+2T>C	SNV Germline	Chr15:40407992	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312662	rs_748026507	4 SubmittersRCV001376756
NM_002225.5(IVD):c.890C>T (p.Ala297Val)	SNV Germline	Chr15:40415412	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312669	rs_796051983	5 SubmittersRCV000412245
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)	SNV Germline	Chr15:40418234	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312654	rs_150855952	3 SubmittersRCV000634870
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)	SNV Germline	Chr15:40418165	Pathogenic/Likely pathogenic	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA10588582	rs_371427844	5 SubmittersRCV000255825 RCV001004404
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)	SNV Germline	Chr15:40413010	Likely pathogenic	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480726	rs_146861563	6 SubmittersRCV000275647 RCV000674322
NM_002225.5(IVD):c.863C>T (p.Ala288Val)	SNV Germline	Chr15:40414967	Conflicting classifications of pathogenicity	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA10603806	rs_886042098	4 SubmittersRCV000272721 RCV004547655
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)	SNV Germline	Chr15:40416332	Pathogenic	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480886	rs_368705240	2 SubmittersRCV000301785 RCV001859652
NM_002225.5(IVD):c.164A>T (p.Lys55Met)	SNV Germline	Chr15:40407655	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided IVD-related disorder Uterine corpus endometrial carcinoma Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA7480517	rs_145999491	8 SubmittersRCV000279155 RCV000519068 RCV003940228 RCV005893359 RCV005893358
NM_002225.5(IVD):c.784+13G>A	SNV Germline	Chr15:40413100	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA7480736	rs_369694967	3 SubmittersRCV000367818 RCV000420620
NM_002225.5(IVD):c.879-5G>A	SNV Germline	Chr15:40415396	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7480790	rs_750569823	4 SubmittersRCV000391233 RCV000424018 RCV004021630
NM_002225.5(IVD):c.144+1G>A	SNV Germline	Chr15:40405972	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16041729	rs_928991928	4 SubmittersRCV000412035
NM_002225.5(IVD):c.149G>A (p.Arg50His)	SNV Germline	Chr15:40407640	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA7480513	rs_2229311	8 SubmittersRCV000411182 RCV001848730 RCV002523859
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)	SNV Germline	Chr15:40407723	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7480534	rs_765815516	5 SubmittersRCV000410639 RCV000413831
NM_002225.5(IVD):c.551-1G>A	SNV Unknown	Chr15:40411554	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA16041730	rs_1057517043	1 SubmittersRCV000410323
NM_002225.5(IVD):c.961-2A>G	SNV Unknown	Chr15:40416076	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA16041732	rs_1057517056	1 SubmittersRCV000409066
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)	SNV Germline	Chr15:40418190	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7480918	rs_773560012	6 SubmittersRCV000412119 RCV004584702
NM_002225.5(IVD):c.550+1G>A	SNV Germline	Chr15:40411354	Conflicting classifications of pathogenicity	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency Inborn genetic diseases IVD-related disorder	Criteria Provided Conflicting Classifications	CA7480666	rs_377147994	9 SubmittersRCV000413513 RCV000984189 RCV002523909 RCV003401395
NM_002225.5(IVD):c.234+16C>T	SNV Germline	Chr15:40407741	Conflicting classifications of pathogenicity	not specified Isovaleryl-CoA dehydrogenase deficiency IVD-related disorder	Criteria Provided Conflicting Classifications	CA7480542	rs_750473075	4 SubmittersRCV000421414 RCV002521825 RCV003972646
NM_002225.5(IVD):c.1139-8G>C	SNV Germline	Chr15:40418122	Conflicting classifications of pathogenicity	not specified Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480907	rs_755640305	3 SubmittersRCV000442666 RCV000942097
NM_002225.5(IVD):c.466G>A (p.Gly156Ser)	SNV Germline	Chr15:40411269	Likely pathogenic	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391716968	rs_1555404010	2 SubmittersRCV000497808 RCV003144292
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)	SNV Germline	Chr15:40418223	Conflicting classifications of pathogenicity	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency not specified IVD-related disorder	Criteria Provided Conflicting Classifications	CA7480924	rs_143348838	10 SubmittersRCV000523707 RCV000674039 RCV002271521 RCV003392352
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)	SNV Germline	Chr15:40414952	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391720836	rs_1314850102	2 SubmittersRCV000540901
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)	SNV Germline	Chr15:40418151	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA391724364	rs_1163816425	3 SubmittersRCV000535701
NM_002225.5(IVD):c.228C>T (p.Asn76=)	SNV Germline	Chr15:40407719	Conflicting classifications of pathogenicity	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480532	rs_140098686	3 SubmittersRCV000579185 RCV001080728
NM_002225.5(IVD):c.150T>A (p.Arg50=)	SNV Germline	Chr15:40407641	Conflicting classifications of pathogenicity	not specified Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480514	rs_762440985	4 SubmittersRCV000612721 RCV001118470
NM_002225.5(IVD):c.400A>G (p.Ile134Val)	SNV Germline	Chr15:40410741	Conflicting classifications of pathogenicity	not specified Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480612	rs_151118565	4 SubmittersRCV000604359 RCV000902136
NM_002225.5(IVD):c.961T>C (p.Leu321=)	SNV Germline	Chr15:40416078	Conflicting classifications of pathogenicity	not specified Isovaleryl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7480826	rs_146011049	3 SubmittersRCV000610577 RCV001241758 RCV002529406
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)	SNV Germline	Chr15:40418175	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency Inborn genetic diseases Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA391724478	rs_1477527791	9 SubmittersRCV000634868 RCV001265923 RCV005900151
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)	SNV Germline	Chr15:40418196	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480919	rs_763422682	3 SubmittersRCV000634867
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)	SNV Unknown	Chr15:40405871	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA391743572	rs_907414760	1 SubmittersRCV000665281
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)	SNV Germline	Chr15:40410690	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7480602	rs_776015412	9 SubmittersRCV000666222 RCV004588091
NM_002225.5(IVD):c.961-1G>T	SNV Unknown	Chr15:40416077	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA391722626	rs_1555405067	1 SubmittersRCV000674343
NM_002225.5(IVD):c.-9A>T	SNV Germline	Chr15:40405819	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480453	rs_373594717	3 SubmittersRCV000668145
NM_002225.5(IVD):c.287-1G>A	SNV Germline	Chr15:40410627	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391716111	rs_1398838997	4 SubmittersRCV000667869
NM_002225.5(IVD):c.785-1G>A	SNV Germline	Chr15:40414888	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA391720257	rs_1555404784	2 SubmittersRCV000673634
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)	SNV Germline	Chr15:40414955	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7480763	rs_373534546	6 SubmittersRCV000671277 RCV002531276 RCV003163065
NM_002225.5(IVD):c.878+1G>A	SNV Germline	Chr15:40414983	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA268780753	rs_745629936	2 SubmittersRCV000667342
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)	SNV Germline	Chr15:40418174	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480914	rs_398123681	5 SubmittersRCV000692024
NM_002225.5(IVD):c.1175G>A (p.Arg392His)	SNV Germline	Chr15:40418166	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA268781747	rs_982218848	9 SubmittersRCV000761533 RCV006250861
NM_002225.5(IVD):c.960G>T (p.Gln320His)	SNV Germline	Chr15:40415482	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7480802	rs_367814475	5 SubmittersRCV000770801 RCV004721588
NM_002225.5(IVD):c.883A>T (p.Met295Leu)	SNV Germline	Chr15:40415405	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	No Assertion Criteria Provided	CA391721248	rs_1595786853	1 SubmittersRCV000984025
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)	SNV Germline	Chr15:40416126	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7480836	rs_776608445	3 SubmittersRCV000809438 RCV006250876
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)	SNV Germline	Chr15:40416336	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480887	rs_754600862	3 SubmittersRCV000800024
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)	SNV Germline	Chr15:40407639	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480512	rs_34695403	3 SubmittersRCV000802687
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)	SNV Germline	Chr15:40407947	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480567	rs_540375168	3 SubmittersRCV000808800
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)	SNV Germline	Chr15:40416126	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391722990	rs_776608445	2 SubmittersRCV000989288
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)	SNV Germline	Chr15:40418222	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391724647	rs_1237032588	5 SubmittersRCV000989290
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)	SNV Germline	Chr15:40414969	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA268780751	rs_568885234	3 SubmittersRCV001071786
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)	SNV Germline	Chr15:40416084	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391722683	rs_1891639284	1 SubmittersRCV001070596
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)	SNV Germline	Chr15:40416112	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391722895	rs_745464766	2 SubmittersRCV001070595
NM_002225.5(IVD):c.823G>C (p.Val275Leu)	SNV Germline	Chr15:40414927	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480758	rs_757832700	2 SubmittersRCV001119989
NM_002225.5(IVD):c.1138+13C>T	SNV Germline	Chr15:40416375	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480892	rs_770658726	2 SubmittersRCV001120289
NM_002225.5(IVD):c.158T>C (p.Met53Thr)	SNV Unknown	Chr15:40407649	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391744672	rs_1890589984	1 SubmittersRCV001170022
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)	SNV Germline	Chr15:40407690	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA7480523	rs_199865931	1 SubmittersRCV001230646
NM_002225.5(IVD):c.287-2A>C	SNV Germline	Chr15:40410626	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716108	rs_781340220	1 SubmittersRCV001239347
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)	SNV Germline	Chr15:40410691	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA7480603	rs_145725101	3 SubmittersRCV001257436 RCV004690037
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)	SNV Germline	Chr15:40416360	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA391723926	rs_1469021843	3 SubmittersRCV001306627
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)	SNV Germline	Chr15:40411270	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391716972	rs_1221254988	3 SubmittersRCV001366950
NM_002225.5(IVD):c.457-2A>T	SNV Germline	Chr15:40411258	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716911	rs_771914739	1 SubmittersRCV001378700
NM_002225.5(IVD):c.961-2A>T	SNV Germline	Chr15:40416076	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391722621	rs_1057517056	1 SubmittersRCV001378050
NM_002225.5(IVD):c.1138+1G>A	SNV Germline	Chr15:40416363	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391723934	rs_1193235415	1 SubmittersRCV001377640
NM_002225.5(IVD):c.286+5G>T	SNV Germline	Chr15:40407995	Likely pathogenic	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA268825362	rs_878909737	3 SubmittersRCV001532256 RCV004798914
NM_002225.5(IVD):c.539C>T (p.Ala180Val)	SNV Germline	Chr15:40411342	Conflicting classifications of pathogenicity	Condition: not provided Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480661	rs_559732306	3 SubmittersRCV001658946 RCV001827564
NM_002225.5(IVD):c.122G>A (p.Gly41Glu)	SNV Germline	Chr15:40405949	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391743796	rs_2141290050	1 SubmittersRCV001782321
NM_002225.5(IVD):c.254G>A (p.Gly85Glu)	SNV Germline	Chr15:40407958	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391745815	rs_2141304438	1 SubmittersRCV001782322
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)	SNV Germline	Chr15:40416347	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480889	rs_544110604	4 SubmittersRCV002542366
NM_002225.5(IVD):c.287-2A>G	SNV Germline	Chr15:40410626	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480592	rs_781340220	2 SubmittersRCV001823529
NM_002225.5(IVD):c.687+2T>C	SNV Germline	Chr15:40411693	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391717991	rs_2141332040	1 SubmittersRCV002030902
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)	SNV Germline	Chr15:40405936	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391743748	rs_2141289961	3 SubmittersRCV001939420
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)	SNV Germline	Chr15:40418213	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480922	rs_755693286	4 SubmittersRCV001981786
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)	SNV Germline	Chr15:40407967	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA7480572	rs_779579351	3 SubmittersRCV001960171 RCV004770291
NM_002225.5(IVD):c.541G>T (p.Glu181Ter)	SNV Germline	Chr15:40411344	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391717285	rs_2141329244	1 SubmittersRCV001884650
NM_002225.5(IVD):c.977T>C (p.Met326Thr)	SNV Germline	Chr15:40416094	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA391722759	rs_1891640609	2 SubmittersRCV001976611 RCV004699610
NM_002225.5(IVD):c.457C>G (p.Leu153Val)	SNV Germline	Chr15:40411260	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716921	rs_763665120	1 SubmittersRCV001922350
NM_002225.5(IVD):c.242G>A (p.Trp81Ter)	SNV Germline	Chr15:40407946	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391745712	rs_767782379	1 SubmittersRCV001943987
NM_002225.5(IVD):c.687+1G>C	SNV Germline	Chr15:40411692	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391717985	rs_2141332035	1 SubmittersRCV002008952
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)	SNV Germline	Chr15:40416348	Conflicting classifications of pathogenicity	not specified Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA7480890	rs_769261274	3 SubmittersRCV002271937 RCV003096125
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)	SNV Unknown	Chr15:40415480	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency Melanoma	Criteria Provided Single Submitter	CA391721835	rs_757351801	2 SubmittersRCV002309560 RCV005931792
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)	SNV Unknown	Chr15:40413018	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391718779	rs_2542714217	1 SubmittersRCV002309913
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)	SNV Unknown	Chr15:40410783	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716778	rs_1199952317	1 SubmittersRCV002307866
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)	SNV Unknown	Chr15:40410774	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391716737	rs_2542681353	2 SubmittersRCV002307022
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)	SNV Unknown	Chr15:40410780	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716762	rs_981444721	1 SubmittersRCV002307196
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)	SNV Germline	Chr15:40414936	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391720709	rs_552272986	2 SubmittersRCV003041221
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)	SNV Germline	Chr15:40416147	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391723178	rs_1355297002	3 SubmittersRCV003009102
NM_002225.5(IVD):c.940C>T (p.Gln314Ter)	SNV Germline	Chr15:40415462	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391721646	rs_1566940436	1 SubmittersRCV003146747
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)	SNV Germline	Chr15:40407640	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391744644	rs_2229311	2 SubmittersRCV003146754
NM_002225.5(IVD):c.491T>C (p.Met164Thr)	SNV Germline	Chr15:40411294	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391717083	rs_1891052909	1 SubmittersRCV003324447
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)	SNV Germline	Chr15:40414954	Conflicting classifications of pathogenicity	Isovaleryl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA7480762	rs_145847749	3 SubmittersRCV003461755 RCV004701066
NM_002225.5(IVD):c.1186G>C (p.Asp396His)	SNV Germline	Chr15:40418177	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA391724482	rs_1566943451	3 SubmittersRCV003469873 RCV004585039
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)	SNV Unknown	Chr15:40416124	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391722967	rs_2542756668	1 SubmittersRCV003461757
NM_002225.5(IVD):c.960+1G>A	SNV Unknown	Chr15:40415483	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391721856	rs_2542748614	1 SubmittersRCV003461758
NM_002225.5(IVD):c.457-2A>C	SNV Unknown	Chr15:40411258	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA7480642	rs_771914739	1 SubmittersRCV003461759
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)	SNV Unknown	Chr15:40410635	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716156	rs_2141322944	1 SubmittersRCV003461761
NM_002225.5(IVD):c.986T>C (p.Met329Thr)	SNV Germline	Chr15:40416103	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA391722823	rs_1319705053	2 SubmittersRCV003461762
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)	SNV Germline	Chr15:40411635	Pathogenic/Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA7480700	rs_747807491	5 SubmittersRCV003461763
NM_002225.5(IVD):c.526A>G (p.Met176Val)	SNV Unknown	Chr15:40411329	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391717203	rs_1241965322	1 SubmittersRCV003469878
NM_002225.5(IVD):c.878+2T>C	SNV Unknown	Chr15:40414984	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391721070	rs_2542739685	1 SubmittersRCV003461766
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)	SNV Germline	Chr15:40411589	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391717562	rs_2542696391	1 SubmittersRCV003501187
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)	SNV Germline	Chr15:40410700	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716430	rs_1890974853	1 SubmittersRCV003501725
NM_002225.5(IVD):c.235-1G>A	SNV Germline	Chr15:40407938	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391745635	rs_2542648975	1 SubmittersRCV003500429
NM_002225.5(IVD):c.144+1G>C	SNV Germline	Chr15:40405972	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA268823642	rs_928991928	2 SubmittersRCV003608138
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)	SNV Germline	Chr15:40407654	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391744691	rs_1443916294	1 SubmittersRCV003608090
NM_002225.5(IVD):c.145-2A>T	SNV Germline	Chr15:40407634	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA268824869	rs_144099251	1 SubmittersRCV003831395
NM_002225.5(IVD):c.785-2A>T	SNV Germline	Chr15:40414887	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391720254	rs_2542737278	1 SubmittersRCV003843743
NM_002225.5(IVD):c.457-1G>A	SNV Germline	Chr15:40411259	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391716914	rs_760307260	1 SubmittersRCV003872181
NM_002225.5(IVD):c.872C>T (p.Pro291Leu)	SNV Germline	Chr15:40414976	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA391720985	rs_2542739501	1 SubmittersRCV003990890
NM_002225.5(IVD):c.340G>C (p.Glu114Gln)	SNV Unknown	Chr15:40410681	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2542679335	1 SubmittersRCV004576765
NM_002225.5(IVD):c.386A>G (p.His129Arg)	SNV Germline	Chr15:40410727	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004796495
NM_002225.5(IVD):c.1A>G (p.Met1Val)	SNV Germline	Chr15:40405828	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009556
NM_002225.5(IVD):c.688-1G>T	SNV Germline	Chr15:40412990	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009559
NM_002225.5(IVD):c.948C>G (p.Ile316Met)	SNV Germline	Chr15:40415470	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005009560
NM_002225.5(IVD):c.1201G>T (p.Glu401Ter)	SNV Germline	Chr15:40418192	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005116768
NM_002225.5(IVD):c.961-1G>A	SNV Germline	Chr15:40416077	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005133282
NM_002225.5(IVD):c.456+1G>A	SNV Germline	Chr15:40410798	Likely pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005195482
NM_002225.5(IVD):c.879-2A>G	SNV Germline	Chr15:40415399	Pathogenic	Isovaleryl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005637719

NM_002225.5(IVD):c.596G>T (p.Gly199Val)

SNV
Germline

Chr15:40411600

Pathogenic/Likely pathogenic

Isovaleric acidemia, type I
Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA116359

rs_121434285

6 SubmittersRCV000003744 RCV000432851 RCV000984276

NM_002225.5(IVD):c.148C>T (p.Arg50Cys)

SNV
Germline

Chr15:40407639

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA252817

rs_34695403

6 SubmittersRCV000003748

NM_002225.5(IVD):c.932C>T (p.Ala311Val)

SNV
Germline

Chr15:40415454

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases
IVD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252819

rs_28940889

18 SubmittersRCV000003749 RCV000080003 RCV001266807 RCV003952534

NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)

SNV
Germline

Chr15:40416290

Conflicting classifications of pathogenicity

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency
not specified
IVD-related disorder

Criteria Provided
Conflicting Classifications

CA221929

rs_398123679

7 SubmittersRCV000417380 RCV000557255 RCV005431464 RCV004754295

NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)

SNV
Germline

Chr15:40416356

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Isovaleryl-CoA dehydrogenase deficiency
IVD-related disorder

Criteria Provided
Conflicting Classifications

CA221931

rs_398123680

4 SubmittersRCV000174064 RCV003330425 RCV005007993 RCV004754296

NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)

SNV
Germline

Chr15:40418174

Conflicting classifications of pathogenicity

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA221933

rs_398123681

3 SubmittersRCV000079996 RCV003607234

NM_002225.5(IVD):c.456+2T>C

SNV
Germline

Chr15:40410799

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA221936

rs_398123683

9 SubmittersRCV000178177 RCV000790744

NM_002225.5(IVD):c.358G>A (p.Gly120Arg)

SNV
Germline

Chr15:40410699

Pathogenic/Likely pathogenic

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency
IVD-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA234134

rs_142761835

11 SubmittersRCV000153385 RCV000169054 RCV003416000 RCV004984685

NM_002225.5(IVD):c.149G>C (p.Arg50Pro)

SNV
Germline

Chr15:40407640

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided
IVD-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274129

rs_2229311

9 SubmittersRCV000169289 RCV001090731 RCV003927565

NM_002225.5(IVD):c.457-2A>G

SNV
Germline

Chr15:40411258

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA273883

rs_771914739

3 SubmittersRCV000169016

NM_002225.5(IVD):c.784+1G>A

SNV
Germline

Chr15:40413088

Pathogenic/Likely pathogenic

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA275399

rs_763471771

4 SubmittersRCV000179846 RCV000762946

NM_002225.5(IVD):c.205G>A (p.Asp69Asn)

SNV
Germline

Chr15:40407696

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312656

rs_747273828

4 SubmittersRCV001779516

NM_002225.5(IVD):c.286+2T>C

SNV
Germline

Chr15:40407992

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312662

rs_748026507

4 SubmittersRCV001376756

NM_002225.5(IVD):c.890C>T (p.Ala297Val)

SNV
Germline

Chr15:40415412

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312669

rs_796051983

5 SubmittersRCV000412245

NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)

SNV
Germline

Chr15:40418234

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312654

rs_150855952

3 SubmittersRCV000634870

NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)

SNV
Germline

Chr15:40418165

Pathogenic/Likely pathogenic

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA10588582

rs_371427844

5 SubmittersRCV000255825 RCV001004404

NM_002225.5(IVD):c.707C>T (p.Thr236Ile)

SNV
Germline

Chr15:40413010

Likely pathogenic

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480726

rs_146861563

6 SubmittersRCV000275647 RCV000674322

NM_002225.5(IVD):c.863C>T (p.Ala288Val)

SNV
Germline

Chr15:40414967

Conflicting classifications of pathogenicity

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA10603806

rs_886042098

4 SubmittersRCV000272721 RCV004547655

NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)

SNV
Germline

Chr15:40416332

Pathogenic

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480886

rs_368705240

2 SubmittersRCV000301785 RCV001859652

NM_002225.5(IVD):c.164A>T (p.Lys55Met)

SNV
Germline

Chr15:40407655

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided
IVD-related disorder
Uterine corpus endometrial carcinoma
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA7480517

rs_145999491

8 SubmittersRCV000279155 RCV000519068 RCV003940228 RCV005893359 RCV005893358

NM_002225.5(IVD):c.784+13G>A

SNV
Germline

Chr15:40413100

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA7480736

rs_369694967

3 SubmittersRCV000367818 RCV000420620

NM_002225.5(IVD):c.879-5G>A

SNV
Germline

Chr15:40415396

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7480790

rs_750569823

4 SubmittersRCV000391233 RCV000424018 RCV004021630

NM_002225.5(IVD):c.144+1G>A

SNV
Germline

Chr15:40405972

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16041729

rs_928991928

4 SubmittersRCV000412035

NM_002225.5(IVD):c.149G>A (p.Arg50His)

SNV
Germline

Chr15:40407640

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA7480513

rs_2229311

8 SubmittersRCV000411182 RCV001848730 RCV002523859

NM_002225.5(IVD):c.232C>T (p.Arg78Ter)

SNV
Germline

Chr15:40407723

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7480534

rs_765815516

5 SubmittersRCV000410639 RCV000413831

NM_002225.5(IVD):c.551-1G>A

SNV
Unknown

Chr15:40411554

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA16041730

rs_1057517043

1 SubmittersRCV000410323

NM_002225.5(IVD):c.961-2A>G

SNV
Unknown

Chr15:40416076

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA16041732

rs_1057517056

1 SubmittersRCV000409066

NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)

SNV
Germline

Chr15:40418190

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7480918

rs_773560012

6 SubmittersRCV000412119 RCV004584702

NM_002225.5(IVD):c.550+1G>A

SNV
Germline

Chr15:40411354

Conflicting classifications of pathogenicity

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency
Inborn genetic diseases
IVD-related disorder

Criteria Provided
Conflicting Classifications

CA7480666

rs_377147994

9 SubmittersRCV000413513 RCV000984189 RCV002523909 RCV003401395

NM_002225.5(IVD):c.234+16C>T

SNV
Germline

Chr15:40407741

Conflicting classifications of pathogenicity

not specified
Isovaleryl-CoA dehydrogenase deficiency
IVD-related disorder

Criteria Provided
Conflicting Classifications

CA7480542

rs_750473075

4 SubmittersRCV000421414 RCV002521825 RCV003972646

NM_002225.5(IVD):c.1139-8G>C

SNV
Germline

Chr15:40418122

Conflicting classifications of pathogenicity

not specified
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480907

rs_755640305

3 SubmittersRCV000442666 RCV000942097

NM_002225.5(IVD):c.466G>A (p.Gly156Ser)

SNV
Germline

Chr15:40411269

Likely pathogenic

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391716968

rs_1555404010

2 SubmittersRCV000497808 RCV003144292

NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)

SNV
Germline

Chr15:40418223

Conflicting classifications of pathogenicity

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency
not specified
IVD-related disorder

Criteria Provided
Conflicting Classifications

CA7480924

rs_143348838

10 SubmittersRCV000523707 RCV000674039 RCV002271521 RCV003392352

NM_002225.5(IVD):c.848A>G (p.Glu283Gly)

SNV
Germline

Chr15:40414952

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391720836

rs_1314850102

2 SubmittersRCV000540901

NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)

SNV
Germline

Chr15:40418151

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA391724364

rs_1163816425

3 SubmittersRCV000535701

NM_002225.5(IVD):c.228C>T (p.Asn76=)

SNV
Germline

Chr15:40407719

Conflicting classifications of pathogenicity

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480532

rs_140098686

3 SubmittersRCV000579185 RCV001080728

NM_002225.5(IVD):c.150T>A (p.Arg50=)

SNV
Germline

Chr15:40407641

Conflicting classifications of pathogenicity

not specified
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480514

rs_762440985

4 SubmittersRCV000612721 RCV001118470

NM_002225.5(IVD):c.400A>G (p.Ile134Val)

SNV
Germline

Chr15:40410741

Conflicting classifications of pathogenicity

not specified
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480612

rs_151118565

4 SubmittersRCV000604359 RCV000902136

NM_002225.5(IVD):c.961T>C (p.Leu321=)

SNV
Germline

Chr15:40416078

Conflicting classifications of pathogenicity

not specified
Isovaleryl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7480826

rs_146011049

3 SubmittersRCV000610577 RCV001241758 RCV002529406

NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)

SNV
Germline

Chr15:40418175

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Inborn genetic diseases
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA391724478

rs_1477527791

9 SubmittersRCV000634868 RCV001265923 RCV005900151

NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)

SNV
Germline

Chr15:40418196

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480919

rs_763422682

3 SubmittersRCV000634867

NM_002225.5(IVD):c.44G>A (p.Trp15Ter)

SNV
Unknown

Chr15:40405871

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA391743572

rs_907414760

1 SubmittersRCV000665281

NM_002225.5(IVD):c.349C>T (p.Arg117Ter)

SNV
Germline

Chr15:40410690

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7480602

rs_776015412

9 SubmittersRCV000666222 RCV004588091

NM_002225.5(IVD):c.961-1G>T

SNV
Unknown

Chr15:40416077

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA391722626

rs_1555405067

1 SubmittersRCV000674343

NM_002225.5(IVD):c.-9A>T

SNV
Germline

Chr15:40405819

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480453

rs_373594717

3 SubmittersRCV000668145

NM_002225.5(IVD):c.287-1G>A

SNV
Germline

Chr15:40410627

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391716111

rs_1398838997

4 SubmittersRCV000667869

NM_002225.5(IVD):c.785-1G>A

SNV
Germline

Chr15:40414888

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA391720257

rs_1555404784

2 SubmittersRCV000673634

NM_002225.5(IVD):c.851G>A (p.Arg284Gln)

SNV
Germline

Chr15:40414955

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7480763

rs_373534546

6 SubmittersRCV000671277 RCV002531276 RCV003163065

NM_002225.5(IVD):c.878+1G>A

SNV
Germline

Chr15:40414983

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA268780753

rs_745629936

2 SubmittersRCV000667342

NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)

SNV
Germline

Chr15:40418174

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480914

rs_398123681

5 SubmittersRCV000692024

NM_002225.5(IVD):c.1175G>A (p.Arg392His)

SNV
Germline

Chr15:40418166

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA268781747

rs_982218848

9 SubmittersRCV000761533 RCV006250861

NM_002225.5(IVD):c.960G>T (p.Gln320His)

SNV
Germline

Chr15:40415482

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7480802

rs_367814475

5 SubmittersRCV000770801 RCV004721588

NM_002225.5(IVD):c.883A>T (p.Met295Leu)

SNV
Germline

Chr15:40415405

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

CA391721248

rs_1595786853

1 SubmittersRCV000984025

NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)

SNV
Germline

Chr15:40416126

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7480836

rs_776608445

3 SubmittersRCV000809438 RCV006250876

NM_002225.5(IVD):c.1112T>C (p.Val371Ala)

SNV
Germline

Chr15:40416336

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480887

rs_754600862

3 SubmittersRCV000800024

NM_002225.5(IVD):c.148C>G (p.Arg50Gly)

SNV
Germline

Chr15:40407639

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480512

rs_34695403

3 SubmittersRCV000802687

NM_002225.5(IVD):c.243G>A (p.Trp81Ter)

SNV
Germline

Chr15:40407947

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480567

rs_540375168

3 SubmittersRCV000808800

NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)

SNV
Germline

Chr15:40416126

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391722990

rs_776608445

2 SubmittersRCV000989288

NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)

SNV
Germline

Chr15:40418222

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391724647

rs_1237032588

5 SubmittersRCV000989290

NM_002225.5(IVD):c.865G>A (p.Gly289Arg)

SNV
Germline

Chr15:40414969

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA268780751

rs_568885234

3 SubmittersRCV001071786

NM_002225.5(IVD):c.967C>G (p.Gln323Glu)

SNV
Germline

Chr15:40416084

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391722683

rs_1891639284

1 SubmittersRCV001070596

NM_002225.5(IVD):c.995G>T (p.Arg332Leu)

SNV
Germline

Chr15:40416112

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391722895

rs_745464766

2 SubmittersRCV001070595

NM_002225.5(IVD):c.823G>C (p.Val275Leu)

SNV
Germline

Chr15:40414927

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480758

rs_757832700

2 SubmittersRCV001119989

NM_002225.5(IVD):c.1138+13C>T

SNV
Germline

Chr15:40416375

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480892

rs_770658726

2 SubmittersRCV001120289

NM_002225.5(IVD):c.158T>C (p.Met53Thr)

SNV
Unknown

Chr15:40407649

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391744672

rs_1890589984

1 SubmittersRCV001170022

NM_002225.5(IVD):c.199G>T (p.Glu67Ter)

SNV
Germline

Chr15:40407690

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA7480523

rs_199865931

1 SubmittersRCV001230646

NM_002225.5(IVD):c.287-2A>C

SNV
Germline

Chr15:40410626

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716108

rs_781340220

1 SubmittersRCV001239347

NM_002225.5(IVD):c.350G>A (p.Arg117Gln)

SNV
Germline

Chr15:40410691

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA7480603

rs_145725101

3 SubmittersRCV001257436 RCV004690037

NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)

SNV
Germline

Chr15:40416360

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA391723926

rs_1469021843

3 SubmittersRCV001306627

NM_002225.5(IVD):c.467G>C (p.Gly156Ala)

SNV
Germline

Chr15:40411270

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391716972

rs_1221254988

3 SubmittersRCV001366950

NM_002225.5(IVD):c.457-2A>T

SNV
Germline

Chr15:40411258

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716911

rs_771914739

1 SubmittersRCV001378700

NM_002225.5(IVD):c.961-2A>T

SNV
Germline

Chr15:40416076

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391722621

rs_1057517056

1 SubmittersRCV001378050

NM_002225.5(IVD):c.1138+1G>A

SNV
Germline

Chr15:40416363

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391723934

rs_1193235415

1 SubmittersRCV001377640

NM_002225.5(IVD):c.286+5G>T

SNV
Germline

Chr15:40407995

Likely pathogenic

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA268825362

rs_878909737

3 SubmittersRCV001532256 RCV004798914

NM_002225.5(IVD):c.539C>T (p.Ala180Val)

SNV
Germline

Chr15:40411342

Conflicting classifications of pathogenicity

Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480661

rs_559732306

3 SubmittersRCV001658946 RCV001827564

NM_002225.5(IVD):c.122G>A (p.Gly41Glu)

SNV
Germline

Chr15:40405949

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391743796

rs_2141290050

1 SubmittersRCV001782321

NM_002225.5(IVD):c.254G>A (p.Gly85Glu)

SNV
Germline

Chr15:40407958

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391745815

rs_2141304438

1 SubmittersRCV001782322

NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)

SNV
Germline

Chr15:40416347

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480889

rs_544110604

4 SubmittersRCV002542366

NM_002225.5(IVD):c.287-2A>G

SNV
Germline

Chr15:40410626

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480592

rs_781340220

2 SubmittersRCV001823529

NM_002225.5(IVD):c.687+2T>C

SNV
Germline

Chr15:40411693

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391717991

rs_2141332040

1 SubmittersRCV002030902

NM_002225.5(IVD):c.109G>A (p.Asp37Asn)

SNV
Germline

Chr15:40405936

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391743748

rs_2141289961

3 SubmittersRCV001939420

NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)

SNV
Germline

Chr15:40418213

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480922

rs_755693286

4 SubmittersRCV001981786

NM_002225.5(IVD):c.263G>A (p.Gly88Asp)

SNV
Germline

Chr15:40407967

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7480572

rs_779579351

3 SubmittersRCV001960171 RCV004770291

NM_002225.5(IVD):c.541G>T (p.Glu181Ter)

SNV
Germline

Chr15:40411344

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391717285

rs_2141329244

1 SubmittersRCV001884650

NM_002225.5(IVD):c.977T>C (p.Met326Thr)

SNV
Germline

Chr15:40416094

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391722759

rs_1891640609

2 SubmittersRCV001976611 RCV004699610

NM_002225.5(IVD):c.457C>G (p.Leu153Val)

SNV
Germline

Chr15:40411260

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716921

rs_763665120

1 SubmittersRCV001922350

NM_002225.5(IVD):c.242G>A (p.Trp81Ter)

SNV
Germline

Chr15:40407946

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391745712

rs_767782379

1 SubmittersRCV001943987

NM_002225.5(IVD):c.687+1G>C

SNV
Germline

Chr15:40411692

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391717985

rs_2141332035

1 SubmittersRCV002008952

NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)

SNV
Germline

Chr15:40416348

Conflicting classifications of pathogenicity

not specified
Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA7480890

rs_769261274

3 SubmittersRCV002271937 RCV003096125

NM_002225.5(IVD):c.958C>T (p.Gln320Ter)

SNV
Unknown

Chr15:40415480

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Melanoma

Criteria Provided
Single Submitter

CA391721835

rs_757351801

2 SubmittersRCV002309560 RCV005931792

NM_002225.5(IVD):c.715A>T (p.Lys239Ter)

SNV
Unknown

Chr15:40413018

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391718779

rs_2542714217

1 SubmittersRCV002309913

NM_002225.5(IVD):c.442A>T (p.Lys148Ter)

SNV
Unknown

Chr15:40410783

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716778

rs_1199952317

1 SubmittersRCV002307866

NM_002225.5(IVD):c.433C>T (p.Gln145Ter)

SNV
Unknown

Chr15:40410774

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391716737

rs_2542681353

2 SubmittersRCV002307022

NM_002225.5(IVD):c.439G>T (p.Glu147Ter)

SNV
Unknown

Chr15:40410780

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716762

rs_981444721

1 SubmittersRCV002307196

NM_002225.5(IVD):c.832A>G (p.Ser278Gly)

SNV
Germline

Chr15:40414936

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391720709

rs_552272986

2 SubmittersRCV003041221

NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)

SNV
Germline

Chr15:40416147

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391723178

rs_1355297002

3 SubmittersRCV003009102

NM_002225.5(IVD):c.940C>T (p.Gln314Ter)

SNV
Germline

Chr15:40415462

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391721646

rs_1566940436

1 SubmittersRCV003146747

NM_002225.5(IVD):c.149G>T (p.Arg50Leu)

SNV
Germline

Chr15:40407640

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391744644

rs_2229311

2 SubmittersRCV003146754

NM_002225.5(IVD):c.491T>C (p.Met164Thr)

SNV
Germline

Chr15:40411294

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391717083

rs_1891052909

1 SubmittersRCV003324447

NM_002225.5(IVD):c.850C>T (p.Arg284Trp)

SNV
Germline

Chr15:40414954

Conflicting classifications of pathogenicity

Isovaleryl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA7480762

rs_145847749

3 SubmittersRCV003461755 RCV004701066

NM_002225.5(IVD):c.1186G>C (p.Asp396His)

SNV
Germline

Chr15:40418177

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA391724482

rs_1566943451

3 SubmittersRCV003469873 RCV004585039

NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)

SNV
Unknown

Chr15:40416124

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391722967

rs_2542756668

1 SubmittersRCV003461757

NM_002225.5(IVD):c.960+1G>A

SNV
Unknown

Chr15:40415483

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391721856

rs_2542748614

1 SubmittersRCV003461758

NM_002225.5(IVD):c.457-2A>C

SNV
Unknown

Chr15:40411258

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA7480642

rs_771914739

1 SubmittersRCV003461759

NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)

SNV
Unknown

Chr15:40410635

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716156

rs_2141322944

1 SubmittersRCV003461761

NM_002225.5(IVD):c.986T>C (p.Met329Thr)

SNV
Germline

Chr15:40416103

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA391722823

rs_1319705053

2 SubmittersRCV003461762

NM_002225.5(IVD):c.631A>G (p.Thr211Ala)

SNV
Germline

Chr15:40411635

Pathogenic/Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA7480700

rs_747807491

5 SubmittersRCV003461763

NM_002225.5(IVD):c.526A>G (p.Met176Val)

SNV
Unknown

Chr15:40411329

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391717203

rs_1241965322

1 SubmittersRCV003469878

NM_002225.5(IVD):c.878+2T>C

SNV
Unknown

Chr15:40414984

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391721070

rs_2542739685

1 SubmittersRCV003461766

NM_002225.5(IVD):c.585G>A (p.Trp195Ter)

SNV
Germline

Chr15:40411589

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391717562

rs_2542696391

1 SubmittersRCV003501187

NM_002225.5(IVD):c.359G>A (p.Gly120Glu)

SNV
Germline

Chr15:40410700

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716430

rs_1890974853

1 SubmittersRCV003501725

NM_002225.5(IVD):c.235-1G>A

SNV
Germline

Chr15:40407938

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391745635

rs_2542648975

1 SubmittersRCV003500429

NM_002225.5(IVD):c.144+1G>C

SNV
Germline

Chr15:40405972

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA268823642

rs_928991928

2 SubmittersRCV003608138

NM_002225.5(IVD):c.163A>T (p.Lys55Ter)

SNV
Germline

Chr15:40407654

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391744691

rs_1443916294

1 SubmittersRCV003608090

NM_002225.5(IVD):c.145-2A>T

SNV
Germline

Chr15:40407634

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA268824869

rs_144099251

1 SubmittersRCV003831395

NM_002225.5(IVD):c.785-2A>T

SNV
Germline

Chr15:40414887

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391720254

rs_2542737278

1 SubmittersRCV003843743

NM_002225.5(IVD):c.457-1G>A

SNV
Germline

Chr15:40411259

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391716914

rs_760307260

1 SubmittersRCV003872181

NM_002225.5(IVD):c.872C>T (p.Pro291Leu)

SNV
Germline

Chr15:40414976

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA391720985

rs_2542739501

1 SubmittersRCV003990890

NM_002225.5(IVD):c.340G>C (p.Glu114Gln)

SNV
Unknown

Chr15:40410681

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2542679335

1 SubmittersRCV004576765

NM_002225.5(IVD):c.386A>G (p.His129Arg)

SNV
Germline

Chr15:40410727

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004796495

NM_002225.5(IVD):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:40405828

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009556

NM_002225.5(IVD):c.688-1G>T

SNV
Germline

Chr15:40412990

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009559

NM_002225.5(IVD):c.948C>G (p.Ile316Met)

SNV
Germline

Chr15:40415470

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005009560

NM_002225.5(IVD):c.1201G>T (p.Glu401Ter)

SNV
Germline

Chr15:40418192

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005116768

NM_002225.5(IVD):c.961-1G>A

SNV
Germline

Chr15:40416077

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005133282

NM_002225.5(IVD):c.456+1G>A

SNV
Germline

Chr15:40410798

Likely pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005195482

NM_002225.5(IVD):c.879-2A>G

SNV
Germline

Chr15:40415399

Pathogenic

Isovaleryl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005637719