"Ambry Genetics"[submitter] AND "SNX17"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532123	NM_014748.4(SNX17):c.181C>G (p.Pro61Ala)	SNX17 (P36A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486962	NM_014748.4(SNX17):c.358G>A (p.Glu120Lys)	SNX17 (E120K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279677	NM_014748.4(SNX17):c.529C>T (p.Arg177Trp)	SNX17 (R152W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308224	NM_014748.4(SNX17):c.530G>A (p.Arg177Gln)	SNX17 (R152Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405384	NM_014748.4(SNX17):c.563C>G (p.Ser188Cys)	SNX17 (S168C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289868	NM_014748.4(SNX17):c.644T>C (p.Met215Thr)	SNX17 (M195T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545232	NM_014748.4(SNX17):c.794C>T (p.Thr265Met)	SNX17 (T253M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303371	NM_014748.4(SNX17):c.817C>T (p.Arg273Cys)	SNX17 (R253C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517809	NM_014748.4(SNX17):c.875C>T (p.Ala292Val)	SNX17 (A272V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234063	NM_014748.4(SNX17):c.949C>T (p.Arg317Cys)	SNX17 (R292C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327953	NM_014748.4(SNX17):c.1025G>A (p.Gly342Asp)	SNX17 (G317D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598696	NM_014748.4(SNX17):c.1208C>T (p.Thr403Ile)	SNX17 (T391I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547777	NM_014748.4(SNX17):c.1237G>A (p.Val413Met)	SNX17 (V393M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance