ClinVar for Gene (Select 3158) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106284	NM_005518.4(HMGCS2):c.859G>A (p.Asp287Asn)	HMGCS2 (D287N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106283	NM_005518.4(HMGCS2):c.290C>T (p.Ser97Leu)	HMGCS2 (S97L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106282	NM_005518.4(HMGCS2):c.28C>T (p.Arg10Cys)	HMGCS2 (R10C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063421	GRCh37/hg19 1p12(chr1:119425396-120523902)x3	ADAM30, HAO2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3058296	NM_005518.4(HMGCS2):c.603C>T (p.Pro201=)	HMGCS2	Single nucleotide variant (synonymous variant +1 more)	HMGCS2-related condition	GLikely benign
Select item 3049759	NM_005518.4(HMGCS2):c.1488C>T (p.Asp496=)	HMGCS2	Single nucleotide variant (synonymous variant)	HMGCS2-related condition	GLikely benign
Select item 3048617	NM_005518.4(HMGCS2):c.396G>A (p.Glu132=)	HMGCS2	Single nucleotide variant (synonymous variant)	HMGCS2-related condition	GLikely benign
Select item 3041697	NM_005518.4(HMGCS2):c.1398A>G (p.Gln466=)	HMGCS2	Single nucleotide variant (synonymous variant)	HMGCS2-related condition	GLikely benign
Select item 3039773	NM_005518.4(HMGCS2):c.153A>G (p.Pro51=)	HMGCS2	Single nucleotide variant (synonymous variant)	HMGCS2-related condition	GLikely benign
Select item 3013521	NM_005518.4(HMGCS2):c.559+13A>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
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 2983223	NM_005518.4(HMGCS2):c.560-13T>C	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2982998	NM_005518.4(HMGCS2):c.559+9G>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
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 2918621	NM_005518.4(HMGCS2):c.348C>T (p.Arg116=)	HMGCS2	Single nucleotide variant (synonymous variant)	HMGCS2-related condition +1 more	GLikely benign
Select item 2912937	NM_005518.4(HMGCS2):c.1080T>G (p.Ser360=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
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 2908518	NM_005518.4(HMGCS2):c.135C>T (p.Ala45=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2891004	NM_005518.4(HMGCS2):c.159C>T (p.Asp53=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2871796	NM_005518.4(HMGCS2):c.686-17T>C	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2863758	NM_005518.4(HMGCS2):c.685+13C>G	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2855784	NM_005518.4(HMGCS2):c.1017-12G>A	HMGCS2	Single nucleotide variant (intron 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 2781491	NM_005518.4(HMGCS2):c.1020G>A (p.Gly340=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
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 2730256	NM_005518.4(HMGCS2):c.51G>A (p.Ala17=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2722733	NM_005518.4(HMGCS2):c.559+9G>A	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2721866	NM_005518.4(HMGCS2):c.1029G>A (p.Leu343=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
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 2717253	NM_005518.4(HMGCS2):c.393T>C (p.Thr131=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
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 2685822	GRCh37/hg19 1p12(chr1:119426691-120527495)x3	ADAM30, HAO2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2628076	NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)	HMGCS2 (G55D)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 2540474	NM_005518.4(HMGCS2):c.382G>A (p.Glu128Lys)	HMGCS2 (E128K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2495728	NM_005518.4(HMGCS2):c.767A>G (p.Lys256Arg)	HMGCS2 (K214R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444726	NM_005518.4(HMGCS2):c.727A>G (p.Lys243Glu)	HMGCS2 (K201E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2425621	NC_000001.10:g.(?_120277237)_(120529725_?)dup	ADAM30, HMGCS2 +3 more	Duplication	PHGDH deficiency	GUncertain significance
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 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 2348667	NM_005518.4(HMGCS2):c.863G>A (p.Arg288Gln)	HMGCS2 (R246Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336129	NM_005518.4(HMGCS2):c.827A>G (p.Lys276Arg)	HMGCS2 (K234R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240505	NM_005518.4(HMGCS2):c.644C>T (p.Ala215Val)	HMGCS2 (A215V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2230120	NM_005518.4(HMGCS2):c.67dup (p.Leu23fs)	HMGCS2, LOC122094910 (L23fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
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 2214240	NM_005518.4(HMGCS2):c.119C>A (p.Ser40Tyr)	HMGCS2 (S40Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202835	NM_005518.4(HMGCS2):c.797T>C (p.Leu266Ser)	HMGCS2 (L224S +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2198675	NM_005518.4(HMGCS2):c.158A>G (p.Asp53Gly)	HMGCS2 (D53G)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
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 2194069	NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)	HMGCS2 (Y242* +1 more)	Single nucleotide variant (nonsense)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic/Likely pathogenic
Select item 2186499	NM_005518.4(HMGCS2):c.1514G>A (p.Arg505Gln)	HMGCS2 (R463Q +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2183606	NM_005518.4(HMGCS2):c.633C>A (p.Ala211=)	HMGCS2	Single nucleotide variant (synonymous variant +1 more)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2171243	NM_005518.4(HMGCS2):c.126C>T (p.Val42=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2161681	NM_005518.4(HMGCS2):c.851C>G (p.Ala284Gly)	HMGCS2 (A284G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2153420	NM_005518.4(HMGCS2):c.941G>A (p.Arg314His)	HMGCS2 (R314H +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	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 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 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 2101528	NM_005518.4(HMGCS2):c.205G>A (p.Asp69Asn)	HMGCS2 (D69N)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2092394	NM_005518.4(HMGCS2):c.850+17G>A	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2080601	NM_005518.4(HMGCS2):c.682C>T (p.Arg228Ter)	HMGCS2 (R228*)	Single nucleotide variant (nonsense +1 more)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 2072671	NM_005518.4(HMGCS2):c.754A>G (p.Ile252Val)	HMGCS2 (I252V +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
Select item 2059840	NM_005518.4(HMGCS2):c.1015G>A (p.Gly339Arg)	HMGCS2 (G339R +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2052100	NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)	HMGCS2 (R112W)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GConflicting classifications of pathogenicity
Select item 2050527	NM_005518.4(HMGCS2):c.887A>C (p.Gln296Pro)	HMGCS2 (Q254P +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2048949	NM_005518.4(HMGCS2):c.79C>T (p.Arg27Cys)	LOC122094910, HMGCS2 (R27C)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2011704	NM_005518.4(HMGCS2):c.605G>A (p.Ser202Asn)	HMGCS2 (S202N)	Single nucleotide variant (missense variant +1 more)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 2007988	NM_005518.4(HMGCS2):c.411G>A (p.Lys137=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 2006077	NM_005518.4(HMGCS2):c.182T>G (p.Val61Gly)	HMGCS2 (V61G)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
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 1992183	NM_005518.4(HMGCS2):c.105-8C>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1984755	NM_005518.4(HMGCS2):c.786C>T (p.Tyr262=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1984230	NM_005518.4(HMGCS2):c.28C>A (p.Arg10Ser)	HMGCS2 (R10S)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GUncertain significance
Select item 1981835	NM_005518.4(HMGCS2):c.126C>G (p.Val42=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1916290	NM_005518.4(HMGCS2):c.973A>G (p.Ser325Gly)	HMGCS2 (S325G +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 1804971	NM_005518.4(HMGCS2):c.1092C>G (p.Phe364Leu)	HMGCS2 (F322L +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
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 1695847	NM_005518.4(HMGCS2):c.274C>G (p.Arg92Gly)	HMGCS2 (R92G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1648330	NM_005518.4(HMGCS2):c.1016+19G>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1645199	NM_005518.4(HMGCS2):c.195C>T (p.Ala65=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1643103	NM_005518.4(HMGCS2):c.879C>T (p.Asp293=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
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 1588533	NM_005518.4(HMGCS2):c.1016+10C>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1586999	NM_005518.4(HMGCS2):c.559+8C>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GBenign
Select item 1577305	NM_005518.4(HMGCS2):c.990C>T (p.Ser330=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1562743	NM_005518.4(HMGCS2):c.1017G>C (p.Gly339=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1561784	NM_005518.4(HMGCS2):c.501C>T (p.Tyr167=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1556860	NM_005518.4(HMGCS2):c.822T>C (p.Arg274=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1556367	NM_005518.4(HMGCS2):c.991T>C (p.Leu331=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1551103	NM_005518.4(HMGCS2):c.675C>T (p.Ala225=)	HMGCS2	Single nucleotide variant (synonymous variant +1 more)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1548111	NM_005518.4(HMGCS2):c.387A>G (p.Val129=)	HMGCS2	Single nucleotide variant (synonymous variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely benign
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1495075	NM_005518.4(HMGCS2):c.73C>T (p.Pro25Ser)	HMGCS2, LOC122094910 (P25S)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1489619	NM_005518.4(HMGCS2):c.105-3C>T	HMGCS2	Single nucleotide variant (intron variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
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 1475799	NM_005518.4(HMGCS2):c.1015G>T (p.Gly339Trp)	HMGCS2 (G339W +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1464049	NM_005518.4(HMGCS2):c.589A>G (p.Ile197Val)	HMGCS2 (I197V)	Single nucleotide variant (missense variant +1 more)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance

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