Total 54 pathogenic variants reported for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu) SNV
Germline		 Chr1:119764211 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 CA120247 rs_137852636

2 SubmittersRCV000009839
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter) SNV
Germline		 Chr1:119753304 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA120251 rs_137852637

4 SubmittersRCV000009840RCV003407311
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) SNV
Germline		 Chr1:119759915 Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120256 rs_137852638

6 SubmittersRCV000009841RCV000498667
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) SNV
Germline		 Chr1:119750830 Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA120258 rs_137852639

4 SubmittersRCV000009842
NM_005518.4(HMGCS2):c.500A>G (p.Tyr167Cys) SNV
Germline		 Chr1:119764231 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency No Assertion Criteria Provided
 CA120266 rs_137852640

1 SubmittersRCV000009844
NM_005518.4(HMGCS2):c.685+2T>A SNV
Germline		 Chr1:119759862 Likely pathogenic Condition: not provided
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA312651 rs_796051979

2 SubmittersRCV000185974RCV003509509
NM_005518.4(HMGCS2):c.73C>G (p.Pro25Ala) SNV
Germline		 Chr1:119768772 Conflicting classifications of pathogenicity not specified
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Conflicting Classifications
 CA312636 rs_144744634

2 SubmittersRCV000185971RCV000647361
NM_005518.4(HMGCS2):c.862C>T (p.Arg288Ter) SNV
Germline		 Chr1:119757427 Pathogenic Condition: not provided
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1037747 rs_142637231

3 SubmittersRCV000369998RCV001543155
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=) SNV
Germline		 Chr1:119753338 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Conflicting Classifications
 CA1037621 rs_773364048

2 SubmittersRCV000309230
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) SNV
Germline		 Chr1:119750807 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Condition: not provided
HMGCS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1037511 rs_76773981

6 SubmittersRCV000342894RCV000756249RCV003910056
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=) SNV
Germline		 Chr1:119764557 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1037945 rs_138739620

4 SubmittersRCV000372694RCV000437286RCV000970538
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=) SNV
Germline		 Chr1:119759928 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Conflicting Classifications
 CA10607958 rs_886045207

2 SubmittersRCV000273632
NM_005518.4(HMGCS2):c.1420+13T>C SNV
Germline		 Chr1:119752536 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Conflicting Classifications
 CA1037558 rs_771878586

2 SubmittersRCV000284565
NM_005518.4(HMGCS2):c.851-14G>A SNV
Germline		 Chr1:119757452 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
not specified
HMGCS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1037751 rs_188523700

4 SubmittersRCV000369940RCV000442121RCV003949966
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=) SNV
Germline		 Chr1:119759979 Conflicting classifications of pathogenicity not specified
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Conflicting Classifications
 CA1037848 rs_201735169

3 SubmittersRCV000428846RCV000888818
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) SNV
Germline		 Chr1:119750827 Conflicting classifications of pathogenicity Condition: not provided
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Conflicting Classifications
 CA30269195 rs_372079931

5 SubmittersRCV000522718RCV000805374
NM_005518.4(HMGCS2):c.1162G>A (p.Gly388Arg) SNV
Germline		 Chr1:119755452 Pathogenic Condition: not provided
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1037663 rs_752626288

2 SubmittersRCV000520978RCV002525119
NM_005518.4(HMGCS2):c.1187+1G>C SNV
Germline		 Chr1:119755426 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_764706394

2 SubmittersRCV000721978
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met) SNV
Germline		 Chr1:119764556 Conflicting classifications of pathogenicity Condition: not provided
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Conflicting Classifications
 rs_181428774

3 SubmittersRCV000756247RCV001099374
NM_005518.4(HMGCS2):c.850+2T>C SNV
Germline		 Chr1:119759116 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_1571037298

1 SubmittersRCV000797984
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=) SNV
Germline		 Chr1:119764620 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Conflicting Classifications
 rs_200675569

2 SubmittersRCV000885295
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter) SNV
Germline		 Chr1:119750849 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_776399237

2 SubmittersRCV001255221
NM_005518.4(HMGCS2):c.1090T>A (p.Phe364Ile) SNV
Germline		 Chr1:119755524 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_1652807016

1 SubmittersRCV001065916
NM_005518.4(HMGCS2):c.559+1G>A SNV
Germline		 Chr1:119764171 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_587603096

1 SubmittersRCV001065915
NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile) SNV
Germline		 Chr1:119757384 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_1652875135

1 SubmittersRCV001090000
NM_005518.4(HMGCS2):c.512C>T (p.Ala171Val) SNV
Germline		 Chr1:119764219 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_1653132966

1 SubmittersRCV001089999
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) SNV
Germline		 Chr1:119759242 Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_145838142

2 SubmittersRCV002647318
NM_005518.4(HMGCS2):c.682C>T (p.Arg228Ter) SNV
Germline		 Chr1:119759867 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_763531478

1 SubmittersRCV003002049
NM_005518.4(HMGCS2):c.1201G>T (p.Glu401Ter) SNV
Germline		 Chr1:119753373 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_1454719802

1 SubmittersRCV001530188
NM_005518.4(HMGCS2):c.851-2A>C SNV
Germline		 Chr1:119757440 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency No Assertion Criteria Provided
 rs_1652885850

1 SubmittersRCV001543156
NM_005518.4(HMGCS2):c.717T>G (p.Tyr239Ter) SNV
Germline		 Chr1:119759251 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_1652955748

1 SubmittersRCV001794521
NM_005518.4(HMGCS2):c.220G>A (p.Glu74Lys) SNV
Germline		 Chr1:119764511 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_587688416

1 SubmittersRCV001794522
NM_005518.4(HMGCS2):c.422T>A (p.Val141Asp) SNV
Germline		 Chr1:119764309 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_1406920400

1 SubmittersRCV001794523
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His) SNV
Germline		 Chr1:119759147 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
not specified		 Criteria Provided
Conflicting Classifications
 rs_370058829

3 SubmittersRCV001794524RCV003235596
NM_005518.4(HMGCS2):c.719A>C (p.Asp240Ala) SNV
Germline		 Chr1:119759249 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_762211049

1 SubmittersRCV001794526
NM_005518.4(HMGCS2):c.1017-2A>G SNV
Germline		 Chr1:119755599 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_111313628

1 SubmittersRCV001794527
NM_005518.4(HMGCS2):c.407A>G (p.Asp136Gly) SNV
Germline		 Chr1:119764324 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_2101273359

1 SubmittersRCV001794528
NM_005518.4(HMGCS2):c.1016+1G>A SNV
Germline		 Chr1:119757272 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 rs_771607178

2 SubmittersRCV001994741
NM_005518.4(HMGCS2):c.866C>A (p.Pro289His) SNV
Germline		 Chr1:119757423 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_146296049

2 SubmittersRCV002001841RCV004042911
NM_005518.4(HMGCS2):c.1030G>T (p.Glu344Ter) SNV
Germline		 Chr1:119755584 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_2101254797

1 SubmittersRCV001921804
NM_005518.4(HMGCS2):c.1354C>T (p.Arg452Ter) SNV
Germline		 Chr1:119752615 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003065375
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp) SNV
Germline		 Chr1:119764397 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Conflicting Classifications

2 SubmittersRCV002932473
NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp) SNV
Germline		 Chr1:119764567 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003391156