"GeneDx"[submitter] AND "ST3GAL5"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198500	NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)	ST3GAL5 (R416L +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1018176	NM_003896.4(ST3GAL5):c.1165C>G (p.His389Asp)	ST3GAL5 (H148D +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 140575	NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	ST3GAL5 (E332K +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1257175	NM_003896.4(ST3GAL5):c.1008+126C>G	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2170400	NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter)	ST3GAL5 (R93* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +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 1286891	NM_003896.4(ST3GAL5):c.850-175T>A	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179355	NM_003896.4(ST3GAL5):c.850-187C>T	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235945	NM_003896.4(ST3GAL5):c.850-208G>A	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1457211	NM_003896.4(ST3GAL5):c.794del (p.Leu265fs)	ST3GAL5 (L237fs +4 more)	Deletion (frameshift variant)	GM3 synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1237823	NM_003896.4(ST3GAL5):c.663-91C>T	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452094	NM_003896.4(ST3GAL5):c.336dup (p.Gln113fs)	ST3GAL5 (Q113fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1189840	NM_003896.4(ST3GAL5):c.319-237G>C	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238883	NM_003896.4(ST3GAL5):c.319-255G>A	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278280	NM_003896.4(ST3GAL5):c.318+295A>G	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130382	NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)	ST3GAL5 (H104R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 940208	NM_003896.4(ST3GAL5):c.211A>G (p.Thr71Ala)	ST3GAL5 (T48A +2 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency +1 more	GUncertain significance
Select item 1232193	NM_003896.4(ST3GAL5):c.206+264C>T	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240851	NM_003896.4(ST3GAL5):c.206+72G>A	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 572904	NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter)	ST3GAL5 (W49* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 856273	NM_003896.4(ST3GAL5):c.124del (p.Cys42fs)	ST3GAL5 (C14fs +2 more)	Deletion (frameshift variant +1 more)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1263083	NM_003896.4(ST3GAL5):c.83-225del	ST3GAL5	Deletion (intron variant)	not provided	GBenign
Select item 1264629	NM_003896.4(ST3GAL5):c.83-4078G>A	ST3GAL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237470	NM_003896.4(ST3GAL5):c.82+183G>C	ST3GAL5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 369348	NM_003896.3(ST3GAL5):c.-140C>A	LOC129934236, ST3GAL5	Single nucleotide variant	not provided +1 more	GBenign
Select item 369349	NM_003896.3(ST3GAL5):c.-141T>C	LOC129934236, ST3GAL5	Single nucleotide variant	not provided +1 more	GBenign
Select item 1284093	NC_000002.12:g.85889181C>G	LOC129934236, ST3GAL5	Single nucleotide variant	not provided	GBenign

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Items: 27