"PreventionGenetics, part of Exact Sciences"[submitter] AND "ST3GAL3"[ - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195263	NM_006279.5(ST3GAL3):c.118+10G>C	ST3GAL3 (S43T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130378	NM_006279.5(ST3GAL3):c.209+9925A>G	ST3GAL3 (T128A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 3042660	NM_006279.5(ST3GAL3):c.209+9966C>T	ST3GAL3	Single nucleotide variant (intron variant)	ST3GAL3-related disorder	GLikely benign
Select item 130379	NM_006279.5(ST3GAL3):c.398-7T>C	ST3GAL3	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 2912715	NM_006279.5(ST3GAL3):c.612A>C (p.Thr204=)	ST3GAL3	Single nucleotide variant (synonymous variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 130375	NM_006279.5(ST3GAL3):c.892-9G>A	ST3GAL3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 212313	NM_006279.5(ST3GAL3):c.990C>T (p.Asn330=)	ST3GAL3	Single nucleotide variant (synonymous variant +2 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 699562	NM_006279.5(ST3GAL3):c.1014C>T (p.Thr338=)	ST3GAL3	Single nucleotide variant (synonymous variant +2 more)	ST3GAL3-related disorder +1 more	GLikely benign
Select item 262909	NM_006279.5(ST3GAL3):c.1038+15A>G	ST3GAL3	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 15 +3 more	GBenign
Select item 2570724	NM_006279.5(ST3GAL3):c.1038+579A>G	ST3GAL3 (H275R +3 more)	Single nucleotide variant (missense variant +2 more)	ST3GAL3-related disorder +1 more	GBenign
Select item 262910	NM_006279.5(ST3GAL3):c.1039-18C>T	ST3GAL3	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 15 +3 more	GBenign
Select item 1583131	NM_006279.5(ST3GAL3):c.1039-10C>G	ST3GAL3	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely benign
Select item 130377	NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)	ST3GAL3 (R429Q +14 more)	Single nucleotide variant (missense variant +3 more)	not provided +5 more	GConflicting classifications of pathogenicity