"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1220 - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 650721	NC_000001.11:g.(?_119768741)_(119768844_?)del	HMGCS2, LOC122094910	Deletion	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 645404	NM_005518.4(HMGCS2):c.104G>T (p.Arg35Met)	HMGCS2, LOC122094910 (R35M)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1003176	NM_005518.4(HMGCS2):c.103A>G (p.Arg35Gly)	HMGCS2, LOC122094910 (R35G)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 292345	NM_005518.4(HMGCS2):c.88C>G (p.Pro30Ala)	HMGCS2, LOC122094910 (P30A)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +2 more	GUncertain significance
Select item 2048949	NM_005518.4(HMGCS2):c.79C>T (p.Arg27Cys)	HMGCS2, LOC122094910 (R27C)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
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 203778	NM_005518.4(HMGCS2):c.73C>G (p.Pro25Ala)	HMGCS2, LOC122094910 (P25A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 582343	NM_005518.4(HMGCS2):c.71C>T (p.Thr24Ile)	HMGCS2, LOC122094910 (T24I)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance