C1096902[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1477146	NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)	SLC17A5 (G306A +6 more)	Single nucleotide variant (missense variant)	Sialic acid storage disease, severe infantile type +1 more	GUncertain significance
Select item 727312	NM_012434.5(SLC17A5):c.1112-8A>C	SLC17A5	Single nucleotide variant (intron variant)	Sialic acid storage disease, severe infantile type +3 more	GLikely benign
Select item 5619	NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)	SLC17A5 (P334R)	Single nucleotide variant (missense variant)	Salla disease +1 more	GLikely pathogenic
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 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 100735	NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)	SLC17A5 (L167P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 21493	NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	SLC17A5 (K136E)	Single nucleotide variant (missense variant)	Salla disease +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