"Illumina Laboratory Services, Illumina"[submitter] AND "ST3GAL5"[gene - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 898299	NM_003896.4(ST3GAL5):c.*1001G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337317	NM_003896.4(ST3GAL5):c.*976G>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337318	NM_003896.4(ST3GAL5):c.*950G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337319	NM_003896.4(ST3GAL5):c.*944C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 898300	NM_003896.4(ST3GAL5):c.*756G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337320	NM_003896.4(ST3GAL5):c.*678C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 898301	NM_003896.4(ST3GAL5):c.*649C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337321	NM_003896.4(ST3GAL5):c.*609G>C	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337322	NM_003896.4(ST3GAL5):c.*607C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337323	NM_003896.4(ST3GAL5):c.*594G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GBenign
Select item 337324	NM_003896.4(ST3GAL5):c.*482G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GBenign
Select item 337325	NM_003896.4(ST3GAL5):c.*455G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 895312	NM_003896.4(ST3GAL5):c.*432G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337326	NM_003896.4(ST3GAL5):c.*415T>C	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 895313	NM_003896.4(ST3GAL5):c.*412C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337327	NM_003896.4(ST3GAL5):c.*363A>C	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337328	NM_003896.4(ST3GAL5):c.*355G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896733	NM_003896.4(ST3GAL5):c.*344C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337329	NM_003896.4(ST3GAL5):c.*323C>G	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896734	NM_003896.4(ST3GAL5):c.*260G>A	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896735	NM_003896.4(ST3GAL5):c.*147C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337331	NM_003896.4(ST3GAL5):c.*140A>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337330	NM_003896.4(ST3GAL5):c.*140del	ST3GAL5	Deletion (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337332	NM_003896.4(ST3GAL5):c.*115C>T	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GLikely benign
Select item 337333	NM_003896.4(ST3GAL5):c.*69A>G	ST3GAL5	Single nucleotide variant (3 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 198500	NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)	ST3GAL5 (R416L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 198499	NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)	ST3GAL5	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 580458	NM_003896.4(ST3GAL5):c.1163T>C (p.Met388Thr)	ST3GAL5 (M388T +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency	GUncertain significance
Select item 140575	NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	ST3GAL5 (E332K +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130381	NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=)	ST3GAL5	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 337334	NM_003896.4(ST3GAL5):c.1036G>A (p.Val346Ile)	ST3GAL5 (V346I +5 more)	Single nucleotide variant (missense variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 897206	NM_003896.4(ST3GAL5):c.973T>G (p.Ser325Ala)	ST3GAL5 (S297A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337335	NM_003896.4(ST3GAL5):c.861A>T (p.Val287=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 718171	NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GConflicting classifications of pathogenicity
Select item 898380	NM_003896.4(ST3GAL5):c.849+15T>G	ST3GAL5	Single nucleotide variant (intron variant)	GM3 synthase deficiency	GConflicting classifications of pathogenicity
Select item 197224	NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 898381	NM_003896.4(ST3GAL5):c.580C>T (p.Arg194Cys)	ST3GAL5 (R171C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337336	NM_003896.4(ST3GAL5):c.556C>T (p.His186Tyr)	ST3GAL5 (H186Y +3 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 282731	NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337338	NM_003896.4(ST3GAL5):c.415G>A (p.Val139Met)	ST3GAL5 (V139M +3 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 337337	NM_003896.4(ST3GAL5):c.415G>T (p.Val139Leu)	ST3GAL5 (V139L +3 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 464398	NM_003896.4(ST3GAL5):c.390G>A (p.Ala130=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GConflicting classifications of pathogenicity
Select item 695779	NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val)	ST3GAL5 (A102V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3019854	NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)	ST3GAL5 (Q113* +2 more)	Single nucleotide variant (nonsense +1 more)	GM3 synthase deficiency	GPathogenic
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 895393	NM_003896.4(ST3GAL5):c.119G>T (p.Ser40Ile)	ST3GAL5 (S17I +2 more)	Single nucleotide variant (missense variant +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 337339	NM_003896.4(ST3GAL5):c.84A>C (p.Ala28=)	ST3GAL5	Single nucleotide variant (synonymous variant +1 more)	GM3 synthase deficiency	GLikely benign
Select item 239583	NM_003896.4(ST3GAL5):c.82+1G>C	ST3GAL5, LOC129934236	Single nucleotide variant (splice donor variant)	GM3 synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 193261	NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser)	ST3GAL5, LOC129934236 (P13S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 895394	NM_003896.4(ST3GAL5):c.20G>A (p.Gly7Asp)	LOC129934236, ST3GAL5 (G7D)	Single nucleotide variant (5 prime UTR variant +1 more)	GM3 synthase deficiency	GUncertain significance
Select item 895395	NM_003896.4(ST3GAL5):c.-43G>T	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337340	NM_003896.4(ST3GAL5):c.-53G>A	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337341	NM_003896.3(ST3GAL5):c.-91G>A	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896793	NM_003896.3(ST3GAL5):c.-95G>T	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896794	NM_003896.3(ST3GAL5):c.-99G>A	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 337342	NM_003896.3(ST3GAL5):c.-102G>C	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
Select item 896795	NM_003896.3(ST3GAL5):c.-103G>C	LOC129934236, ST3GAL5	Single nucleotide variant (5 prime UTR variant)	GM3 synthase deficiency	GUncertain significance
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 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic

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Items: 60