"Genome-Nilou Lab"[submitter] AND "SLC17A5"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558174	NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)	SLC17A5 (V453fs)	Insertion (frameshift variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 235209	NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	SLC17A5 (V442I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 809967	NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)	SLC17A5 (F432S)	Single nucleotide variant (missense variant)	Salla disease +3 more	GUncertain significance
Select item 357922	NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)	SLC17A5	Single nucleotide variant (synonymous variant)	Sialic acid storage disease, severe infantile type +1 more	GConflicting classifications of pathogenicity
Select item 558967	NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)	SLC17A5 (V393I)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +4 more	GUncertain significance
Select item 909515	NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +1 more	GConflicting classifications of pathogenicity
Select item 56552	NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)	SLC17A5 (V380fs)	Deletion (frameshift variant)	Salla disease +1 more	GPathogenic/Likely pathogenic
Select item 371242	NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)	SLC17A5 (G374fs)	Deletion (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 1185211	NM_012434.5(SLC17A5):c.1112-36G>A	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 357924	NM_012434.5(SLC17A5):c.1111+7G>A	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +3 more	GBenign/Likely benign
Select item 631989	NM_012434.5(SLC17A5):c.1111+1G>T	SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease +1 more	GConflicting classifications of pathogenicity
Select item 370976	NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)	SLC17A5 (W339*)	Single nucleotide variant (nonsense)	Salla disease	GPathogenic/Likely pathogenic
Select item 1185275	NM_012434.5(SLC17A5):c.979-33G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672109	NM_012434.5(SLC17A5):c.979-87A>G	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672088	NM_012434.5(SLC17A5):c.978+88C>T	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 672087	NM_012434.5(SLC17A5):c.978+70G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 720734	NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +3 more	GConflicting classifications of pathogenicity
Select item 440272	NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)	SLC17A5 (Y306*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 191213	NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)	SLC17A5 (S300F)	Single nucleotide variant (missense variant)	Salla disease +4 more	GConflicting classifications of pathogenicity
Select item 672086	NM_012434.5(SLC17A5):c.820-51C>G	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672081	NM_012434.5(SLC17A5):c.819+79T>G	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 672080	NM_012434.5(SLC17A5):c.819+52G>A	SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 371127	NM_012434.5(SLC17A5):c.819+1G>A	SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease +1 more	GPathogenic/Likely pathogenic
Select item 56558	NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)	SLC17A5	Deletion (inframe_deletion)	not provided +1 more	GPathogenic
Select item 70515	NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)	SLC17A5 (S259F)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 1209792	NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu)	SLC17A5 (W134L +5 more)	Single nucleotide variant (missense variant)	Salla disease +1 more	GUncertain significance
Select item 56557	NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)	SLC17A5 (W240*)	Single nucleotide variant (nonsense)	Salla disease	GPathogenic/Likely pathogenic
Select item 1055885	NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)	SLC17A5 (T129S +5 more)	Single nucleotide variant (missense variant)	Salla disease +1 more	GUncertain significance
Select item 357925	NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +3 more	GBenign
Select item 911669	NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +1 more	GConflicting classifications of pathogenicity
Select item 167693	NM_012434.5(SLC17A5):c.533del (p.Thr178fs)	SLC17A5 (T178fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1185152	NM_012434.5(SLC17A5):c.526-106G>T	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 1185153	NM_012434.5(SLC17A5):c.525+36G>C	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +2 more	GBenign
Select item 56556	NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	SLC17A5	Deletion (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 100735	NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	SLC17A5 (L167P)	Single nucleotide variant (missense variant)	Salla disease +3 more	GConflicting classifications of pathogenicity
Select item 203395	NM_012434.5(SLC17A5):c.409del (p.Met137fs)	SLC17A5 (M137fs)	Deletion (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 21493	NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	SLC17A5 (K136E)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558969	NM_012434.5(SLC17A5):c.292-22T>C	LOC132089454, SLC17A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 56554	NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +1 more	GPathogenic/Likely pathogenic
Select item 130316	NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)	SLC17A5	Single nucleotide variant (synonymous variant)	Salla disease +3 more	GBenign
Select item 431079	NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)	SLC17A5 (R39H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5615	NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)	SLC17A5 (R39C)	Single nucleotide variant (missense variant)	Salla disease +2 more	GPathogenic
Select item 781754	NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)	LOC129996727, SLC17A5 (A29T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167694	NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)	LOC129996727, SLC17A5 (E15*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 44