"Counsyl"[submitter] AND "SLC17A5"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558418	NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs)	SLC17A5 (R494fs)	Duplication (frameshift variant)	Salla disease	GUncertain significance
Select item 557554	NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs)	SLC17A5 (H493fs +8 more)	Microsatellite (frameshift variant)	Salla disease	GUncertain significance
Select item 550257	NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs)	SLC17A5 (F473fs)	Deletion (frameshift variant)	Salla disease	GUncertain significance
Select item 558449	NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter)	SLC17A5 (W456*)	Single nucleotide variant (nonsense)	Salla disease	GUncertain significance
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 552969	NM_012434.5(SLC17A5):c.1351-2A>G	SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GUncertain significance
Select item 371032	NM_012434.5(SLC17A5):c.1350+1G>A	SLC17A5	Single nucleotide variant (splice donor variant +1 more)	Salla disease	GLikely pathogenic
Select item 553893	NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs)	SLC17A5 (I443fs)	Duplication (frameshift variant)	Salla disease	GUncertain significance
Select item 553387	NM_012434.5(SLC17A5):c.1259+1G>T	SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease	GLikely pathogenic
Select item 370393	NM_012434.5(SLC17A5):c.1259+1G>A	SLC17A5	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558681	NM_012434.5(SLC17A5):c.1208del (p.Gly403fs)	SLC17A5 (G403fs)	Deletion (frameshift variant)	Salla disease	GLikely pathogenic
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 371232	NM_012434.5(SLC17A5):c.1127del (p.Ala376fs)	SLC17A5 (A376fs)	Deletion (frameshift variant)	Salla disease	GLikely pathogenic
Select item 371242	NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)	SLC17A5 (G374fs)	Deletion (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
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 370976	NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)	SLC17A5 (W339*)	Single nucleotide variant (nonsense)	Salla disease	GPathogenic/Likely pathogenic
Select item 56551	NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)	SLC17A5 (L336fs)	Deletion (frameshift variant)	Salla disease	GPathogenic
Select item 556798	NM_012434.5(SLC17A5):c.979-2A>G	SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic
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 370579	NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)	SLC17A5 (W303*)	Single nucleotide variant (nonsense)	Salla disease	GPathogenic/Likely pathogenic
Select item 370901	NM_012434.5(SLC17A5):c.905del (p.Asn302fs)	SLC17A5 (N302fs)	Deletion (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 554304	NM_012434.5(SLC17A5):c.837_842dup (p.Val280_Pro281dup)	SLC17A5	Duplication (inframe_insertion)	Salla disease	GUncertain significance
Select item 553597	NM_012434.5(SLC17A5):c.820-2A>C	SLC17A5	Single nucleotide variant (splice acceptor variant +1 more)	Salla disease	GLikely pathogenic
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 70515	NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)	SLC17A5 (S259F)	Single nucleotide variant (missense variant)	Salla disease	GUncertain significance
Select item 556279	NM_012434.5(SLC17A5):c.718dup (p.Trp240fs)	SLC17A5 (W240fs)	Duplication (frameshift variant)	Salla disease	GLikely pathogenic
Select item 552504	NM_012434.5(SLC17A5):c.700+2T>C	SLC17A5	Single nucleotide variant (intron variant +1 more)	Salla disease	GLikely pathogenic
Select item 370912	NM_012434.5(SLC17A5):c.693del (p.Phe233fs)	SLC17A5 (F233fs)	Deletion (frameshift variant)	Salla disease	GLikely pathogenic
Select item 558121	NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)	SLC17A5 (Y223fs)	Duplication (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 552156	NM_012434.5(SLC17A5):c.614-1G>A	SLC17A5	Single nucleotide variant (intron variant +1 more)	Salla disease	GLikely pathogenic
Select item 551797	NM_012434.5(SLC17A5):c.613+2T>A	SLC17A5	Single nucleotide variant (splice donor variant)	Salla disease	GLikely pathogenic
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 555734	NM_012434.5(SLC17A5):c.526-2A>G	SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GPathogenic
Select item 56556	NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)	SLC17A5	Deletion (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 370349	NM_012434.5(SLC17A5):c.423del (p.Phe141fs)	SLC17A5 (F141fs)	Deletion (frameshift variant)	Salla disease	GLikely pathogenic
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 370132	NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter)	SLC17A5 (Y128*)	Single nucleotide variant (nonsense)	Salla disease	GLikely pathogenic
Select item 370442	NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)	LOC132089454, SLC17A5 (Y117fs)	Duplication (frameshift variant)	Salla disease	GPathogenic/Likely pathogenic
Select item 557474	NM_012434.5(SLC17A5):c.292-1G>C	LOC132089454, SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic
Select item 370491	NM_012434.5(SLC17A5):c.292-2A>C	LOC132089454, SLC17A5	Single nucleotide variant (splice acceptor variant)	Salla disease	GLikely pathogenic
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 370460	NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs)	SLC17A5 (T72fs)	Deletion (frameshift variant)	Salla disease	GLikely pathogenic
Select item 371435	NM_012434.5(SLC17A5):c.215del (p.Thr72fs)	SLC17A5 (T72fs)	Deletion (frameshift variant)	Salla disease	GLikely pathogenic
Select item 370514	NM_012434.5(SLC17A5):c.204del (p.Asp69fs)	SLC17A5 (D69fs)	Deletion (frameshift variant)	Salla disease	GLikely pathogenic
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

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Items: 46