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

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2324426	NM_001174084.2(POLL):c.1612C>T (p.Arg538Trp)	POLL (R263W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328995	NM_001174084.2(POLL):c.1604C>T (p.Ala535Val)	POLL (A443V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237341	NM_001174084.2(POLL):c.1546A>G (p.Met516Val)	POLL (M241V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287744	NM_001174084.2(POLL):c.1510C>T (p.Leu504Phe)	POLL (L504F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243595	NM_001174084.2(POLL):c.1460G>A (p.Arg487Gln)	POLL (R212Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394340	NM_001174084.2(POLL):c.1453C>T (p.Arg485Trp)	POLL (R393W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402405	NM_001174084.2(POLL):c.1450C>T (p.Arg484Trp)	POLL (R392W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2332816	NM_001174084.2(POLL):c.1411C>G (p.Gln471Glu)	POLL (Q196E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2566502	NM_001174084.2(POLL):c.1403G>A (p.Gly468Asp)	POLL (G376D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260316	NM_001174084.2(POLL):c.1325G>C (p.Gly442Ala)	POLL (G350A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385777	NM_001174084.2(POLL):c.1321C>T (p.Arg441Trp)	POLL (R349W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400828	NM_001174084.2(POLL):c.1309G>A (p.Gly437Ser)	POLL (G437S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238456	NM_001174084.2(POLL):c.1285G>A (p.Asp429Asn)	POLL (D154N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371188	NM_001174084.2(POLL):c.1237G>A (p.Val413Met)	POLL (V321M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262146	NM_001174084.2(POLL):c.1063C>G (p.Gln355Glu)	POLL (Q263E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369115	NM_001174084.2(POLL):c.1046C>T (p.Ala349Val)	POLL (A257V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370003	NM_001174084.2(POLL):c.1016C>T (p.Ser339Phe)	POLL (S64F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354805	NM_001174084.2(POLL):c.958G>A (p.Gly320Arg)	POLL (G320R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526081	NM_001174084.2(POLL):c.922C>T (p.Arg308Trp)	POLL (R216W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392556	NM_001174084.2(POLL):c.851A>G (p.Asn284Ser)	POLL (N284S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2465587	NM_001174084.2(POLL):c.697C>T (p.Pro233Ser)	POLL (P233S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395472	NM_001174084.2(POLL):c.503C>T (p.Pro168Leu)	POLL (P168L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2619939	NM_001174084.2(POLL):c.391A>G (p.Ser131Gly)	POLL (S131G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2274973	NM_001174084.2(POLL):c.373G>A (p.Val125Met)	POLL (V125M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596371	NM_001174084.2(POLL):c.314C>T (p.Pro105Leu)	POLL (P105L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290446	NM_001174084.2(POLL):c.287G>A (p.Arg96His)	POLL (R96H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523359	NM_001174084.2(POLL):c.278G>A (p.Arg93Gln)	POLL (R93Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2374793	NM_001174084.2(POLL):c.164G>A (p.Arg55Gln)	POLL (R55Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2243881	NM_001174084.2(POLL):c.140A>C (p.His47Pro)	POLL (H47P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468073	NM_001174084.2(POLL):c.116A>G (p.Glu39Gly)	POLL (E39G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 30