Total 183 pathogenic variants reported for Isovaleryl-CoA dehydrogenase deficiency 
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 SubmittersRCV000003744RCV000432851RCV000984276

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
IVD-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA252819 rs_28940889

17 SubmittersRCV000003749RCV000080003RCV003952534RCV001266807

NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) SNV
Germline
Chr15:40416290 Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided
IVD-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA221929 rs_398123679

7 SubmittersRCV000557255RCV000417380RCV004754295RCV005431464

NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) SNV
Germline
Chr15:40416356 Conflicting classifications of pathogenicity Condition: not provided
not specified
IVD-related disorder
Isovaleryl-CoA dehydrogenase deficiency
Criteria Provided
Conflicting Classifications
CA221931 rs_398123680

4 SubmittersRCV000174064RCV003330425RCV004754296RCV005007993

NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) SNV
Germline
Chr15:40418174 Conflicting classifications of pathogenicity Condition: not provided
Isovaleryl-CoA dehydrogenase deficiency
not specified
Criteria Provided
Conflicting Classifications
CA221933 rs_398123681

3 SubmittersRCV000079996RCV003607234RCV004767063

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 SubmittersRCV000178177RCV000790744

NM_002225.5(IVD):c.358G>A (p.Gly120Arg) SNV
Germline
Chr15:40410699 Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency
Condition: not provided
IVD-related disorder
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA234134 rs_142761835

11 SubmittersRCV000169054RCV000153385RCV003416000RCV004984685

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 SubmittersRCV000169289RCV001090731RCV003927565

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 SubmittersRCV000179846RCV000762946

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 SubmittersRCV000255825RCV001004404

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 SubmittersRCV000275647RCV000674322

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 SubmittersRCV000272721RCV004547655

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 SubmittersRCV000301785RCV001859652

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
Criteria Provided
Conflicting Classifications
CA7480517 rs_145999491

7 SubmittersRCV000279155RCV000519068RCV003940228

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 SubmittersRCV000367818RCV000420620

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 SubmittersRCV000391233RCV000424018RCV004021630

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
Inborn genetic diseases
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA7480513 rs_2229311

8 SubmittersRCV000411182RCV002523859RCV001848730

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

4 SubmittersRCV000410639RCV000413831

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 SubmittersRCV000412119RCV004584702

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 SubmittersRCV000413513RCV000984189RCV002523909RCV003401395

NM_002225.5(IVD):c.234+16C>T SNV
Germline
Chr15:40407741 Conflicting classifications of pathogenicity not specified
IVD-related disorder
Isovaleryl-CoA dehydrogenase deficiency
Criteria Provided
Conflicting Classifications
CA7480542 rs_750473075

4 SubmittersRCV000421414RCV003972646RCV002521825

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 SubmittersRCV000442666RCV000942097

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 SubmittersRCV000497808RCV003144292

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 SubmittersRCV000523707RCV000674039RCV002271521RCV003392352

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 SubmittersRCV000579185RCV001080728

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 SubmittersRCV000612721RCV001118470

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 SubmittersRCV000604359RCV000902136

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 SubmittersRCV000610577RCV001241758RCV002529406

NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) SNV
Germline
Chr15:40418175 Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA391724478 rs_1477527791

8 SubmittersRCV000634868RCV001265923

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 SubmittersRCV000666222RCV004588091

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 SubmittersRCV000671277RCV002531276RCV003163065

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 Criteria Provided
Multiple Submitters
No Conflicts
CA268781747 rs_982218848

8 SubmittersRCV000761533

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 SubmittersRCV000770801RCV004721588

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.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 SubmittersRCV001257436RCV004690037

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 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 SubmittersRCV001532256RCV004798914

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 SubmittersRCV001658946RCV001827564

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.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 SubmittersRCV001976611RCV004699610

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 SubmittersRCV002271937RCV003096125

NM_002225.5(IVD):c.958C>T (p.Gln320Ter) SNV
Unknown
Chr15:40415480 Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency Criteria Provided
Single Submitter
CA391721835 rs_757351801

1 SubmittersRCV002309560

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 SubmittersRCV003461755RCV004701066

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 SubmittersRCV003469873RCV004585039

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

4 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