"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC17A5"[g - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 357915	NM_012434.5(SLC17A5):c.*560G>A	SLC17A5	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235209	NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)	SLC17A5 (V442I)	Single nucleotide variant (missense variant)	SLC17A5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 809967	NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)	SLC17A5 (F432S)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +3 more	GUncertain significance
Select item 444691	NM_012434.5(SLC17A5):c.1223del (p.Ser408fs)	SLC17A5 (S408fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 727312	NM_012434.5(SLC17A5):c.1112-8A>C	SLC17A5	Single nucleotide variant (intron variant)	SLC17A5-related condition +3 more	GLikely benign
Select item 720734	NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)	SLC17A5	Single nucleotide variant (synonymous variant)	SLC17A5-related condition +4 more	GConflicting classifications of pathogenicity
Select item 440272	NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)	SLC17A5 (Y306*)	Single nucleotide variant (nonsense)	Sialic acid storage disease, severe infantile type +3 more	GPathogenic
Select item 1654721	NM_012434.5(SLC17A5):c.837A>G (p.Ser279=)	SLC17A5	Single nucleotide variant (synonymous variant +1 more)	Salla disease +1 more	GLikely benign
Select item 771862	NM_012434.5(SLC17A5):c.820-3C>T	SLC17A5	Single nucleotide variant (intron variant)	Salla disease +2 more	GLikely benign
Select item 21493	NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	SLC17A5 (K136E)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +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)	Salla disease +3 more	GConflicting classifications of pathogenicity
Select item 932589	NM_012434.5(SLC17A5):c.72G>C (p.Pro24=)	LOC129996727, SLC17A5 (R13P)	Single nucleotide variant (missense variant +1 more)	Salla disease +1 more	GLikely benign
Select item 746760	NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)	LOC129996727, SLC17A5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign