"Ambry Genetics"[submitter] AND "SNX14"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2472891	NM_153816.6(SNX14):c.2725C>G (p.Gln909Glu)	SNX14 (Q515E +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229730	NM_153816.6(SNX14):c.2637G>C (p.Met879Ile)	SNX14 (M529I +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604088	NM_153816.6(SNX14):c.2617A>G (p.Lys873Glu)	SNX14 (K488E +19 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1898485	NM_153816.6(SNX14):c.2558A>C (p.Asp853Ala)	SNX14 (D503A +19 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1335633	NM_153816.6(SNX14):c.2524C>T (p.His842Tyr)	SNX14 (H448Y +16 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2210169	NM_153816.6(SNX14):c.2314A>G (p.Thr772Ala)	SNX14 (T378A +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616148	NM_153816.6(SNX14):c.1903C>T (p.Pro635Ser)	SNX14 (P538S +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239561	NM_153816.6(SNX14):c.1675C>T (p.Pro559Ser)	SNX14 (P459S +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508436	NM_153816.6(SNX14):c.1630A>G (p.Met544Val)	SNX14 (M159V +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337261	NM_153816.6(SNX14):c.1611T>G (p.Ile537Met)	SNX14 (I143M +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 781886	NM_153816.6(SNX14):c.1190A>G (p.Tyr397Cys)	SNX14 (Y297C +13 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2622432	NM_153816.6(SNX14):c.1184A>G (p.Lys395Arg)	SNX14 (K295R +14 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370349	NM_153816.6(SNX14):c.1084G>A (p.Val362Met)	SNX14 (V266M +13 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2619474	NM_153816.6(SNX14):c.1026G>C (p.Glu342Asp)	SNX14 (E242D +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2335612	NM_153816.6(SNX14):c.1007A>C (p.Glu336Ala)	SNX14 (E188A +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2542729	NM_153816.6(SNX14):c.973C>A (p.Pro325Thr)	SNX14 (P229T +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2262418	NM_153816.6(SNX14):c.921A>C (p.Lys307Asn)	SNX14 (K210N +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291305	NM_153816.6(SNX14):c.913C>T (p.Pro305Ser)	SNX14 (P208S +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234745	NM_153816.6(SNX14):c.845C>T (p.Ser282Phe)	SNX14 (S185F +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2175211	NM_153816.6(SNX14):c.677A>G (p.Tyr226Cys)	SNX14 (Y173C +10 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 2272573	NM_153816.6(SNX14):c.656A>G (p.Gln219Arg)	SNX14 (Q175R +10 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2547567	NM_153816.6(SNX14):c.488T>C (p.Val163Ala)	SNX14 (V184A +5 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2078427	NM_153816.6(SNX14):c.328A>G (p.Lys110Glu)	SNX14 (K109E +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2569263	NM_153816.6(SNX14):c.94T>A (p.Cys32Ser)	SNX14 (C25S +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance

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Items: 24