Related gene-specific medical variations for Gene (Select 54894) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065449	NM_017763.6(RNF43):c.1530C>A (p.Tyr510Ter)	RNF43 (Y383* +1 more)	Single nucleotide variant (nonsense)	Sessile serrated polyposis cancer syndrome	GLikely pathogenic
Select item 2678429	NM_017763.6(RNF43):c.472A>G (p.Thr158Ala)	RNF43 (T158A +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678428	NM_017763.6(RNF43):c.364C>G (p.Leu122Val)	RNF43 (L122V)	Single nucleotide variant (missense variant +1 more)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678427	NM_017763.6(RNF43):c.1249G>C (p.Gly417Arg)	RNF43 (G290R +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678426	NM_017763.6(RNF43):c.1544G>A (p.Gly515Glu)	RNF43 (G388E +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678425	NM_017763.6(RNF43):c.100G>A (p.Ala34Thr)	RNF43 (A34T)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678423	NM_017763.6(RNF43):c.1606G>T (p.Val536Leu)	RNF43 (V409L +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678422	NM_017763.6(RNF43):c.937A>G (p.Met313Val)	RNF43 (M186V +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678421	NM_017763.6(RNF43):c.820A>C (p.Ile274Leu)	RNF43 (I147L +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678420	NM_017763.6(RNF43):c.1504A>G (p.Ser502Gly)	RNF43 (S375G +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678419	NM_017763.6(RNF43):c.1661G>A (p.Arg554Gln)	RNF43 (R427Q +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678418	NM_017763.6(RNF43):c.1175G>C (p.Arg392Thr)	RNF43 (R265T +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678417	NM_017763.6(RNF43):c.1681C>T (p.Arg561Trp)	RNF43 (R434W +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678416	NM_017763.6(RNF43):c.1898G>A (p.Cys633Tyr)	RNF43 (C506Y +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678415	NM_017763.6(RNF43):c.1780_1782del (p.Pro594del)	RNF43 (P467del +1 more)	Deletion (inframe deletion)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678414	NM_017763.6(RNF43):c.974_977delinsGCCG (p.Ser325_Leu326delinsCysArg)	RNF43	Indel (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678413	NM_017763.6(RNF43):c.563T>C (p.Leu188Pro)	RNF43 (L188P +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678412	NM_017763.6(RNF43):c.2093C>T (p.Pro698Leu)	RNF43 (P571L +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678411	NM_017763.6(RNF43):c.1463A>T (p.Gln488Leu)	RNF43 (Q361L +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678410	NM_017763.6(RNF43):c.1156C>T (p.Arg386Trp)	RNF43 (R259W +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678409	NM_017763.6(RNF43):c.103G>A (p.Ala35Thr)	RNF43 (A35T)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678408	NM_017763.6(RNF43):c.2127GCT[1] (p.Leu711del)	RNF43 (L584del +1 more)	Microsatellite (inframe deletion)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678406	NM_017763.6(RNF43):c.1405G>C (p.Gly469Arg)	RNF43 (G342R +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678405	NM_017763.6(RNF43):c.575del (p.Pro192fs)	RNF43 (P192fs +1 more)	Deletion (frameshift variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678404	NM_017763.6(RNF43):c.721A>G (p.Ser241Gly)	RNF43 (S114G +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678403	NM_017763.6(RNF43):c.2108C>T (p.Pro703Leu)	RNF43 (P576L +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678402	NM_017763.6(RNF43):c.1639C>T (p.His547Tyr)	RNF43 (H420Y +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678401	NM_017763.6(RNF43):c.626T>C (p.Ile209Thr)	RNF43 (I209T +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678399	NM_017763.6(RNF43):c.714G>A (p.Trp238Ter)	RNF43 (W111* +1 more)	Single nucleotide variant (nonsense)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678398	NM_017763.6(RNF43):c.1133C>G (p.Ser378Cys)	RNF43 (S251C +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678395	NM_017763.6(RNF43):c.106G>A (p.Val36Met)	RNF43 (V36M)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2678393	NM_017763.6(RNF43):c.731C>A (p.Ala244Asp)	RNF43 (A117D +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2582741	NM_017763.6(RNF43):c.952+5G>C	RNF43	Single nucleotide variant (intron variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 1319733	NM_017763.6(RNF43):c.146G>A (p.Arg49Lys)	RNF43 (R49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319732	NM_017763.6(RNF43):c.1518C>A (p.Asp506Glu)	RNF43 (D379E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319731	NM_017763.6(RNF43):c.1976del (p.Gly659fs)	RNF43 (G532fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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Links from Gene

Items: 36