Total 69 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/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA120247 rs_137852636

3 SubmittersRCV000009839
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter) SNV
Germline		 Chr1:119753304 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120251 rs_137852637

3 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

7 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.160G>A (p.Val54Met) SNV
Germline		 Chr1:119764571 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA120262 rs_28937320

3 SubmittersRCV000009843
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.26A>G (p.Lys9Arg) SNV
Germline		 Chr1:119768819 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1037999 rs_144004292

2 SubmittersRCV000289757RCV005572295
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) SNV
Germline		 Chr1:119750807 Conflicting classifications of pathogenicity Condition: not provided
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1037511 rs_76773981

6 SubmittersRCV000756249RCV000342894RCV003910056
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=) SNV
Germline		 Chr1:119764557 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA1037945 rs_138739620

4 SubmittersRCV000372694RCV000970538RCV000437286
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.851-14G>A SNV
Germline		 Chr1:119757452 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA1037751 rs_188523700

4 SubmittersRCV000369940RCV003949966RCV000442121
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
HMGCS2-related disorder		 Criteria Provided
Conflicting Classifications
 CA1037848 rs_201735169

4 SubmittersRCV000428846RCV000888818RCV004751521
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) SNV
Germline		 Chr1:119750827 Pathogenic/Likely pathogenic Condition: not provided
3-hydroxy-3-methylglutaryl-CoA synthase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA30269195 rs_372079931

6 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

3 SubmittersRCV000520978RCV002525119
NM_005518.4(HMGCS2):c.1187+1G>C SNV
Germline		 Chr1:119755426 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA1037656 rs_764706394

4 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
 CA1037943 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
 CA341861671 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
 CA1037952 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
 CA1037529 rs_776399237

2 SubmittersRCV001255221
NM_005518.4(HMGCS2):c.1090T>A (p.Phe364Ile) SNV
Germline		 Chr1:119755524 Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts
 CA341859084 rs_1652807016

2 SubmittersRCV001065916
NM_005518.4(HMGCS2):c.559+1G>A SNV
Germline		 Chr1:119764171 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Colon adenocarcinoma		 Criteria Provided
Single Submitter
 CA1037871 rs_587603096

2 SubmittersRCV001065915RCV005913576
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
 CA341860680 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
 CA341864330 rs_1653132966

1 SubmittersRCV001089999
NM_005518.4(HMGCS2):c.704T>C (p.Met235Thr) SNV
Germline		 Chr1:119759264 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1037807 rs_773806829

3 SubmittersRCV001097611RCV006455412
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
 CA1037802 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
 CA1037829 rs_763531478

1 SubmittersRCV003002049
NM_005518.4(HMGCS2):c.810C>G (p.Tyr270Ter) SNV
Germline		 Chr1:119759158 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter
 rs_751009381

1 SubmittersRCV005206526
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
 CA341858256 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
 CA341860982 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
 CA341862518 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
 CA1037934 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
 CA341865290 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
 CA1037784 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
 CA341862509 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
 CA30271126 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
 CA341865396 rs_2101273359

1 SubmittersRCV001794528
NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu) SNV
Germline		 Chr1:119755439 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Conflicting Classifications
 CA1037659 rs_766097440

2 SubmittersRCV001928499
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
 CA1037715 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
 CA1037742 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
 CA341859475 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
 CA1037576 rs_587727388

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
 CA1037908 rs_768707273

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
 CA341867051 rs_2464283434

1 SubmittersRCV003391156
NM_005518.4(HMGCS2):c.1498C>T (p.Arg500Cys) SNV
Germline		 Chr1:119750831 Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Conflicting Classifications
 CA1037522 rs_756539895

2 SubmittersRCV003622225
NM_005518.4(HMGCS2):c.719A>T (p.Asp240Val) SNV
Germline		 Chr1:119759249 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV004797368
NM_005518.4(HMGCS2):c.1502G>A (p.Arg501Gln) SNV
Germline		 Chr1:119750827 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004796485
NM_005518.4(HMGCS2):c.634G>T (p.Gly212Ter) SNV
Germline		 Chr1:119759915 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005173500
NM_005518.4(HMGCS2):c.656G>A (p.Gly219Glu) SNV
Germline		 Chr1:119759893 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005409498
NM_005518.4(HMGCS2):c.783C>A (p.Cys261Ter) SNV
Germline		 Chr1:119759185 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005859804
NM_005518.4(HMGCS2):c.932C>A (p.Ser311Tyr) SNV
Germline		 Chr1:119757357 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV005859881
NM_005518.4(HMGCS2):c.536G>A (p.Trp179Ter) SNV
Germline		 Chr1:119764195 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006508929
NM_005518.4(HMGCS2):c.850+1G>A SNV
Germline		 Chr1:119759117 Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006528156
NM_005518.4(HMGCS2):c.1295-1G>C SNV
Germline		 Chr1:119752675 Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV006627225