"Revvity Omics, Revvity"[submitter] AND "ST3GAL5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 828145	NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser)	ST3GAL5 (G101S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 5556	NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter)	ST3GAL5 (R288* +4 more)	Single nucleotide variant (nonsense +1 more)	GM3 synthase deficiency +1 more	GPathogenic
Select item 1325141	NM_003896.4(ST3GAL5):c.850-1G>A	ST3GAL5	Single nucleotide variant (splice acceptor variant +1 more)	GM3 synthase deficiency	GLikely pathogenic
Select item 2690160	NM_003896.4(ST3GAL5):c.651TGT[1] (p.Val219del)	ST3GAL5 (V191del +3 more)	Microsatellite (inframe_deletion +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 577410	NM_003896.4(ST3GAL5):c.353del (p.Lys118fs)	ST3GAL5 (K118fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1325142	NM_003896.4(ST3GAL5):c.282del (p.Met94fs)	ST3GAL5 (M66fs +2 more)	Deletion (frameshift variant +1 more)	GM3 synthase deficiency	GPathogenic/Likely pathogenic

ClinVar