"Ambry Genetics"[submitter] AND "RNF43"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1402355	NM_017763.6(RNF43):c.2297C>T (p.Ser766Leu)	RNF43 (S639L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 843001	NM_017763.6(RNF43):c.2279C>T (p.Pro760Leu)	RNF43 (P633L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1063779	NM_017763.6(RNF43):c.2139A>T (p.Glu713Asp)	RNF43 (E586D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1444346	NM_017763.6(RNF43):c.2135C>T (p.Pro712Leu)	RNF43 (P712L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 847171	NM_017763.6(RNF43):c.2102G>C (p.Cys701Ser)	RNF43 (C701S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1139108	NM_017763.6(RNF43):c.2054C>A (p.Thr685Asn)	RNF43 (T558N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2556508	NM_017763.6(RNF43):c.2014G>A (p.Ala672Thr)	RNF43 (A545T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1414978	NM_017763.6(RNF43):c.1949G>A (p.Arg650Gln)	RNF43 (R523Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1055311	NM_017763.6(RNF43):c.1880T>G (p.Val627Gly)	RNF43 (V500G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 855229	NM_017763.6(RNF43):c.1705C>T (p.Pro569Ser)	RNF43 (P442S +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +2 more	GUncertain significance
Select item 1014006	NM_017763.6(RNF43):c.1697G>A (p.Gly566Asp)	RNF43 (G439D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1502506	NM_017763.6(RNF43):c.1682G>A (p.Arg561Gln)	RNF43 (R434Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1140674	NM_017763.6(RNF43):c.1660C>T (p.Arg554Trp)	RNF43 (R427W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1431984	NM_017763.6(RNF43):c.1654C>T (p.Arg552Cys)	RNF43 (R552C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2542026	NM_017763.6(RNF43):c.1523T>G (p.Leu508Arg)	RNF43 (L381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019877	NM_017763.6(RNF43):c.1486A>G (p.Thr496Ala)	RNF43 (T496A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3314921	NM_017763.6(RNF43):c.1230C>A (p.His410Gln)	RNF43 (H410Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 854361	NM_017763.6(RNF43):c.1157G>A (p.Arg386Gln)	RNF43 (R386Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3155440	NM_017763.6(RNF43):c.1141C>A (p.Pro381Thr)	RNF43 (P381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1434429	NM_017763.6(RNF43):c.1039G>A (p.Gly347Ser)	RNF43 (G347S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2169672	NM_017763.6(RNF43):c.920G>A (p.Arg307Gln)	RNF43 (R180Q +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +2 more	GUncertain significance
Select item 3314922	NM_017763.6(RNF43):c.907T>A (p.Leu303Ile)	RNF43 (L303I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549093	NM_017763.6(RNF43):c.887G>C (p.Arg296Pro)	RNF43 (R169P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2185581	NM_017763.6(RNF43):c.767G>A (p.Arg256Gln)	RNF43 (R129Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3155443	NM_017763.6(RNF43):c.766C>G (p.Arg256Gly)	RNF43 (R256G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1000919	NM_017763.6(RNF43):c.766C>T (p.Arg256Trp)	RNF43 (R129W +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +2 more	GUncertain significance
Select item 2292269	NM_017763.6(RNF43):c.763G>T (p.Ala255Ser)	RNF43 (A128S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2171591	NM_017763.6(RNF43):c.668G>A (p.Arg223His)	RNF43 (R96H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 936200	NM_017763.6(RNF43):c.667C>T (p.Arg223Cys)	RNF43 (R223C +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +2 more	GUncertain significance
Select item 1430595	NM_017763.6(RNF43):c.559G>A (p.Glu187Lys)	RNF43 (E60K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2336115	NM_017763.6(RNF43):c.538C>G (p.Gln180Glu)	RNF43 (Q53E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1014786	NM_017763.6(RNF43):c.505G>T (p.Ala169Ser)	RNF43 (A169S +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +2 more	GUncertain significance
Select item 1989296	NM_017763.6(RNF43):c.500A>G (p.Asn167Ser)	RNF43 (N167S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3155442	NM_017763.6(RNF43):c.325C>G (p.Leu109Val)	RNF43 (L109V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1002795	NM_017763.6(RNF43):c.79C>T (p.Arg27Cys)	RNF43 (R27C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

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Items: 35