List of variants in gene HMGCS2 reported as pathogenic for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)	rs137852638	0.00026
NM_005518.4(HMGCS2):c.1016+1G>A	rs771607178	0.00006
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)	rs137852637	0.00004
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs)	rs1553241079	0.00004
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu)	rs137852636	0.00004
NM_005518.4(HMGCS2):c.1017-2A>G	rs111313628	0.00001
NM_005518.4(HMGCS2):c.1162G>A (p.Gly388Arg)	rs752626288	0.00001
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter)	rs776399237	0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)	rs137852639	0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met)	rs28937320	0.00001
NM_005518.4(HMGCS2):c.559+1G>A	rs587603096	0.00001
NC_000001.10:g.(?_120311344)_(120311467_?)del
NC_000001.11:g.(?_119768721)_(119768864_?)del
NM_005518.4(HMGCS2):c.1017-2del	rs1553240165
NM_005518.4(HMGCS2):c.1030G>T (p.Glu344Ter)	rs2101254797
NM_005518.4(HMGCS2):c.1090T>A (p.Phe364Ile)	rs1652807016
NM_005518.4(HMGCS2):c.1229dup (p.Ser411fs)
NM_005518.4(HMGCS2):c.1354C>T (p.Arg452Ter)
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs)	rs779321975
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	rs372079931
NM_005518.4(HMGCS2):c.39dup (p.Leu14fs)	rs2101283660
NM_005518.4(HMGCS2):c.500A>G (p.Tyr167Cys)	rs137852640
NM_005518.4(HMGCS2):c.682C>T (p.Arg228Ter)	rs763531478
NM_005518.4(HMGCS2):c.717T>G (p.Tyr239Ter)	rs1652955748
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)	rs145838142
NM_005518.4(HMGCS2):c.772del (p.Ser258fs)	rs1553240525
NM_005518.4(HMGCS2):c.788del (p.Leu263fs)	rs2101262353
NM_005518.4(HMGCS2):c.850+2T>C	rs1571037298
NM_005518.4(HMGCS2):c.851-2A>C	rs1652885850
NM_005518.4(HMGCS2):c.862C>T (p.Arg288Ter)	rs142637231

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