HMGCS2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 151326	GRCh38/hg38 1p12(chr1:118752239-119977596)x3	ADAM30, HAO2 +42 more	Copy number gain	See cases	GLikely benign
Select item 155139	GRCh38/hg38 1p12(chr1:118933857-119977655)x1	ADAM30, HAO2 +38 more	Copy number loss	See cases	GUncertain significance
Select item 368823	NM_006623.3(PHGDH):c.*200A>G	HMGCS2, PHGDH	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 875431	NM_005518.3(HMGCS2):c.*862G>A	HMGCS2	Single nucleotide variant	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 875432	NM_005518.4(HMGCS2):c.*822G>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GBenign
Select item 875433	NM_005518.4(HMGCS2):c.*792G>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 875434	NM_005518.4(HMGCS2):c.*765G>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 292323	NM_005518.4(HMGCS2):c.*332A>C	HMGCS2, PHGDH	Single nucleotide variant (3 prime UTR variant)	PHGDH deficiency +2 more	GLikely benign
Select item 1203864	NM_005518.4(HMGCS2):c.233_240del	HMGCS2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 292324	NM_005518.4(HMGCS2):c.*165C>T	HMGCS2, PHGDH	Single nucleotide variant (3 prime UTR variant)	PHGDH deficiency +1 more	GLikely benign
Select item 876456	NM_005518.4(HMGCS2):c.*155C>T	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 876457	NM_005518.4(HMGCS2):c.*139C>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 292325	NM_005518.4(HMGCS2):c.*78A>G	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 876458	NM_005518.4(HMGCS2):c.*12A>C	HMGCS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 292326	NM_005518.4(HMGCS2):c.6-11_6-8del	HMGCS2	Deletion (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 137555	NM_005518.4(HMGCS2):c.*6-16T>C	HMGCS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1282669	NM_005518.4(HMGCS2):c.*5+251A>G	HMGCS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292120	NM_005518.4(HMGCS2):c.*5+68A>G	HMGCS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263157	NM_005518.4(HMGCS2):c.*5+53A>G	HMGCS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187245	NM_005518.4(HMGCS2):c.*5+26G>C	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 292327	NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)	HMGCS2 (V466I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2708223	NM_005518.4(HMGCS2):c.1521C>T (p.Pro507=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2406334	NM_005518.4(HMGCS2):c.1517G>A (p.Arg506His)	HMGCS2 (R506H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221252	NM_005518.4(HMGCS2):c.1516C>T (p.Arg506Cys)	HMGCS2 (R506C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186499	NM_005518.4(HMGCS2):c.1514G>A (p.Arg505Gln)	HMGCS2 (R463Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 292328	NM_005518.4(HMGCS2):c.1513C>T (p.Arg505Trp)	HMGCS2 (R463W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 452101	NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	HMGCS2 (R459P +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic/Likely pathogenic
Select item 9260	NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)	HMGCS2 (R500H +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic/Likely pathogenic
Select item 2911808	NM_005518.4(HMGCS2):c.1498C>T (p.Arg500Cys)	HMGCS2 (R500C +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 3049759	NM_005518.4(HMGCS2):c.1488C>T (p.Asp496=)	HMGCS2	Single nucleotide variant (synonymous variant)	HMGCS2-related disorder	GLikely benign
Select item 3367072	NM_005518.4(HMGCS2):c.1481G>A (p.Arg494Gln)	HMGCS2 (R452Q +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 827683	NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter)	HMGCS2 (R452* +1 more)	Single nucleotide variant (nonsense)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1479228	NM_005518.4(HMGCS2):c.1451G>T (p.Ser484Ile)	HMGCS2 (S484I +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 538168	NM_005518.4(HMGCS2):c.1425T>C (p.Asn475=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2806548	NM_005518.4(HMGCS2):c.1421-9A>C	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1656846	NM_005518.4(HMGCS2):c.1421-17T>C	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1244963	NM_005518.4(HMGCS2):c.1421-37C>T	HMGCS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207358	NM_005518.4(HMGCS2):c.1421-160G>C	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196777	NM_005518.4(HMGCS2):c.1421-188C>A	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684188	NM_005518.4(HMGCS2):c.1421-217A>C	HMGCS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 292329	NM_005518.4(HMGCS2):c.1420+13T>C	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GConflicting classifications of pathogenicity
Select item 292330	NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=)	HMGCS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2534054	NM_005518.4(HMGCS2):c.1415A>G (p.His472Arg)	HMGCS2 (H430R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1444750	NM_005518.4(HMGCS2):c.1405C>G (p.Gln469Glu)	HMGCS2 (Q427E +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 3041697	NM_005518.4(HMGCS2):c.1398A>G (p.Gln466=)	HMGCS2	Single nucleotide variant (synonymous variant)	HMGCS2-related disorder	GLikely benign
Select item 1327465	NM_005518.4(HMGCS2):c.1394del (p.Asn465fs)	HMGCS2 (N423fs +1 more)	Deletion (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1713476	NM_005518.4(HMGCS2):c.1372G>A (p.Glu458Lys)	HMGCS2 (E416K +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1910361	NM_005518.4(HMGCS2):c.1368T>C (p.Ser456=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1439515	NM_005518.4(HMGCS2):c.1355G>A (p.Arg452Gln)	HMGCS2 (R452Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149225	NM_005518.4(HMGCS2):c.1354C>T (p.Arg452Ter)	HMGCS2 (R410* +1 more)	Single nucleotide variant (nonsense)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1175190	NM_005518.4(HMGCS2):c.1347_1351del (p.Ala450fs)	HMGCS2 (A408fs +1 more)	Deletion (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 3004407	NM_005518.4(HMGCS2):c.1350C>T (p.Ala450=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1115178	NM_005518.4(HMGCS2):c.1333C>T (p.Leu445=)	HMGCS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 873559	NM_005518.4(HMGCS2):c.1325C>T (p.Thr442Ile)	HMGCS2 (T442I +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GUncertain significance
Select item 2125133	NM_005518.4(HMGCS2):c.1316T>C (p.Val439Ala)	HMGCS2 (V397A +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 381004	NM_005518.4(HMGCS2):c.1311G>A (p.Lys437=)	HMGCS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2000796	NM_005518.4(HMGCS2):c.1295-12T>C	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1205155	NM_005518.4(HMGCS2):c.1294+102C>G	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 662406	NM_005518.4(HMGCS2):c.1289C>T (p.Ala430Val)	HMGCS2 (A430V +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1441959	NM_005518.4(HMGCS2):c.1271G>A (p.Arg424Gln)	HMGCS2 (R382Q +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 9258	NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)	HMGCS2 (R424* +1 more)	Single nucleotide variant (nonsense)	HMGCS2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 960746	NM_005518.4(HMGCS2):c.1262T>G (p.Phe421Cys)	HMGCS2 (F379C +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2730509	NM_005518.4(HMGCS2):c.1256G>A (p.Ser419Asn)	HMGCS2 (S377N +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1612542	NM_005518.4(HMGCS2):c.1254A>G (p.Ala418=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 3284497	NM_005518.4(HMGCS2):c.1252G>A (p.Ala418Thr)	HMGCS2 (A376T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292331	NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GConflicting classifications of pathogenicity
Select item 2964858	NM_005518.4(HMGCS2):c.1229dup (p.Ser411fs)	HMGCS2 (S369fs +1 more)	Duplication (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1403022	NM_005518.4(HMGCS2):c.1220T>C (p.Ile407Thr)	HMGCS2 (I365T +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1175191	NM_005518.4(HMGCS2):c.1201G>T (p.Glu401Ter)	HMGCS2 (E359* +1 more)	Single nucleotide variant (nonsense)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 2719967	NM_005518.4(HMGCS2):c.1188-17G>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1265075	NM_005518.4(HMGCS2):c.1188-60GT[19]	HMGCS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1203444	NM_005518.4(HMGCS2):c.1188-60GT[21]	HMGCS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1188548	NM_005518.4(HMGCS2):c.1188-60GT[20]	HMGCS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1290949	NM_005518.4(HMGCS2):c.1188-60GT[16]	HMGCS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1266503	NM_005518.4(HMGCS2):c.1188-60GT[15]	HMGCS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1221189	NM_005518.4(HMGCS2):c.1188-60GT[17]	HMGCS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1201403	NM_005518.4(HMGCS2):c.1188-179C>G	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195768	NM_005518.4(HMGCS2):c.1188-228G>A	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224678	NM_005518.4(HMGCS2):c.1187+254A>C	HMGCS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186654	NM_005518.4(HMGCS2):c.1187+170G>T	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254365	NM_005518.4(HMGCS2):c.1187+122C>T	HMGCS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756842	NM_005518.4(HMGCS2):c.1187+7A>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 590814	NM_005518.4(HMGCS2):c.1187+1G>C	HMGCS2	Single nucleotide variant (splice donor variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 1414047	NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu)	HMGCS2 (S350L +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 449457	NM_005518.4(HMGCS2):c.1162G>A (p.Gly388Arg)	HMGCS2 (G346R +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GPathogenic
Select item 795754	NM_005518.4(HMGCS2):c.1161C>T (p.Tyr387=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1342318	NM_005518.4(HMGCS2):c.1156dup (p.Leu386fs)	HMGCS2 (L344fs +1 more)	Duplication (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 2416651	NM_005518.4(HMGCS2):c.1156C>A (p.Leu386Met)	HMGCS2 (L344M +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1403883	NM_005518.4(HMGCS2):c.1153T>A (p.Ser385Thr)	HMGCS2 (S385T +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1417364	NM_005518.4(HMGCS2):c.1142T>G (p.Met381Arg)	HMGCS2 (M381R +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 873560	NM_005518.4(HMGCS2):c.1132A>C (p.Asn378His)	HMGCS2 (N378H +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1399962	NM_005518.4(HMGCS2):c.1127C>T (p.Thr376Ile)	HMGCS2 (T376I +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GUncertain significance
Select item 292332	NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys)	HMGCS2 (S333C +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +2 more	GBenign/Likely benign
Select item 2194929	NM_005518.4(HMGCS2):c.1119C>T (p.Tyr373=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1377740	NM_005518.4(HMGCS2):c.1118A>C (p.Tyr373Ser)	HMGCS2 (Y373S +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2138012	NM_005518.4(HMGCS2):c.1112C>G (p.Ser371Cys)	HMGCS2 (S371C +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GUncertain significance
Select item 964690	NM_005518.4(HMGCS2):c.1095C>G (p.Asp365Glu)	HMGCS2 (D365E +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2065634	NM_005518.4(HMGCS2):c.1093G>A (p.Asp365Asn)	HMGCS2 (D323N +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance

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