54894[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 1317600	NM_017763.6(RNF43):c.*216C>T	RNF43	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3340809	NM_017763.6(RNF43):c.*8A>G	RNF43	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1648682	NM_017763.6(RNF43):c.2351G>A (p.Ter784=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108027	NM_017763.6(RNF43):c.2346T>C (p.Ala782=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990750	NM_017763.6(RNF43):c.2343G>A (p.Gln781=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060300	NM_017763.6(RNF43):c.2338G>C (p.Glu780Gln)	RNF43 (E653Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2825058	NM_017763.6(RNF43):c.2334G>C (p.Leu778=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885709	NM_017763.6(RNF43):c.2326GAG[1] (p.Glu777del)	RNF43 (E777del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1026449	NM_017763.6(RNF43):c.2326G>A (p.Glu776Lys)	RNF43 (E649K +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
Select item 1666463	NM_017763.6(RNF43):c.2325C>T (p.Leu775=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1450512	NM_017763.6(RNF43):c.2316GGA[1] (p.Glu774del)	RNF43 (E647del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1421889	NM_017763.6(RNF43):c.2319G>C (p.Glu773Asp)	RNF43 (E646D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1087680	NM_017763.6(RNF43):c.2313A>C (p.Ser771=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588044	NM_017763.6(RNF43):c.2309-4A>T	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650473	NM_017763.6(RNF43):c.2309-14CT[2]	RNF43	Microsatellite (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2956610	NM_017763.6(RNF43):c.2309-12C>T	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618697	NM_017763.6(RNF43):c.2309-15G>A	RNF43	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 403383	NM_017763.6(RNF43):c.2309-15G>C	RNF43	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1235832	NM_017763.6(RNF43):c.2309-29C>T	RNF43	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1628719	NM_017763.6(RNF43):c.2308+20_2308+21del	RNF43	Deletion (intron variant)	not provided	GLikely benign
Select item 1801831	NM_017763.6(RNF43):c.2308+1G>T	RNF43	Single nucleotide variant (splice donor variant)	Sessile serrated polyposis cancer syndrome	GLikely pathogenic
Select item 1039598	NM_017763.6(RNF43):c.2305C>T (p.Pro769Ser)	RNF43 (P769S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021879	NM_017763.6(RNF43):c.2305C>G (p.Pro769Ala)	RNF43 (P642A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037597	NM_017763.6(RNF43):c.2298G>A (p.Ser766=)	RNF43	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 957810	NM_017763.6(RNF43):c.2294T>C (p.Leu765Pro)	RNF43 (L638P +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
Select item 1488568	NM_017763.6(RNF43):c.2287C>T (p.Gln763Ter)	RNF43 (Q636* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2890208	NM_017763.6(RNF43):c.2286C>T (p.Cys762=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513778	NM_017763.6(RNF43):c.2286C>G (p.Cys762Trp)	RNF43 (C635W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190193	NM_017763.6(RNF43):c.2284T>C (p.Cys762Arg)	RNF43 (C762R +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
Select item 3370859	NM_017763.6(RNF43):c.2282A>G (p.His761Arg)	RNF43 (H634R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165953	NM_017763.6(RNF43):c.2280G>A (p.Pro760=)	RNF43	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 843001	NM_017763.6(RNF43):c.2279C>T (p.Pro760Leu)	RNF43 (P633L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1136565	NM_017763.6(RNF43):c.2277T>C (p.Tyr759=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1420382	NM_017763.6(RNF43):c.2276A>G (p.Tyr759Cys)	RNF43 (Y759C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166638	NM_017763.6(RNF43):c.2268A>G (p.Pro756=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1011805	NM_017763.6(RNF43):c.2267C>G (p.Pro756Arg)	RNF43 (P629R +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +2 more	GUncertain significance
Select item 3011096	NM_017763.6(RNF43):c.2264G>A (p.Arg755Lys)	RNF43 (R755K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415813	NM_017763.6(RNF43):c.2262C>T (p.Gly754=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1166723	NM_017763.6(RNF43):c.2261G>C (p.Gly754Ala)	RNF43 (G627A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1053955	NM_017763.6(RNF43):c.2254G>A (p.Ala752Thr)	RNF43 (A625T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1586930	NM_017763.6(RNF43):c.2253C>T (p.Thr751=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2678392	NM_017763.6(RNF43):c.2248G>A (p.Asp750Asn)	RNF43 (D623N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1390068	NM_017763.6(RNF43):c.2248G>C (p.Asp750His)	RNF43 (D750H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1412506	NM_017763.6(RNF43):c.2243G>A (p.Ser748Asn)	RNF43 (S748N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176808	NM_017763.6(RNF43):c.2211_2234dup (p.Ser745_Glu746insHisProProGlyGluGlyProSer)	RNF43	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1444503	NM_017763.6(RNF43):c.2234C>T (p.Ser745Phe)	RNF43 (S745F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419783	NM_017763.6(RNF43):c.2231C>G (p.Pro744Arg)	RNF43 (P617R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090601	NM_017763.6(RNF43):c.2226G>A (p.Glu742=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920999	NM_017763.6(RNF43):c.2218C>T (p.Pro740Ser)	RNF43 (P613S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984928	NM_017763.6(RNF43):c.2213A>G (p.His738Arg)	RNF43 (H738R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1134508	NM_017763.6(RNF43):c.2205G>T (p.Leu735=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190509	NM_017763.6(RNF43):c.2195G>A (p.Arg732His)	RNF43 (R605H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2172027	NM_017763.6(RNF43):c.2194C>G (p.Arg732Gly)	RNF43 (R605G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368729	NM_017763.6(RNF43):c.2194C>T (p.Arg732Cys)	RNF43 (R605C +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
Select item 3015313	NM_017763.6(RNF43):c.2184C>T (p.Cys728=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505195	NM_017763.6(RNF43):c.2182_2183insAA (p.Cys728Ter)	RNF43 (C728* +1 more)	Insertion (nonsense)	not provided +1 more	GUncertain significance
Select item 1661262	NM_017763.6(RNF43):c.2160A>T (p.Ser720=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137210	NM_017763.6(RNF43):c.2154T>C (p.Cys718=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813024	NM_017763.6(RNF43):c.2150C>G (p.Pro717Arg)	RNF43 (P590R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064188	NM_017763.6(RNF43):c.2147G>T (p.Gly716Val)	RNF43 (G589V +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
Select item 3240354	NM_017763.6(RNF43):c.2146G>A (p.Gly716Ser)	RNF43 (G589S +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	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 2907006	NM_017763.6(RNF43):c.2138A>G (p.Glu713Gly)	RNF43 (E713G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444346	NM_017763.6(RNF43):c.2135C>T (p.Pro712Leu)	RNF43 (P712L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1515901	NM_017763.6(RNF43):c.2134C>A (p.Pro712Thr)	RNF43 (P585T +1 more)	Single nucleotide variant (missense variant)	not provided	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 2692004	NM_017763.6(RNF43):c.2129T>A (p.Leu710Gln)	RNF43 (L583Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2883804	NM_017763.6(RNF43):c.2126G>T (p.Arg709Met)	RNF43 (R582M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1996475	NM_017763.6(RNF43):c.2124G>A (p.Lys708=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2678403	NM_017763.6(RNF43):c.2108C>T (p.Pro703Leu)	RNF43 (P576L +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 specified +1 more	GUncertain significance
Select item 1362991	NM_017763.6(RNF43):c.2100C>G (p.Ile700Met)	RNF43 (I700M +1 more)	Single nucleotide variant (missense variant)	not provided	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 1166587	NM_017763.6(RNF43):c.2091C>T (p.His697=)	RNF43	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1022199	NM_017763.6(RNF43):c.2090A>G (p.His697Arg)	RNF43 (H570R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1450991	NM_017763.6(RNF43):c.2089C>T (p.His697Tyr)	RNF43 (H697Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702776	NM_017763.6(RNF43):c.2088A>G (p.Ala696=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3240368	NM_017763.6(RNF43):c.2086G>A (p.Ala696Thr)	RNF43 (A569T +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 1697612	NM_017763.6(RNF43):c.2082A>G (p.Pro694=)	RNF43	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2908577	NM_017763.6(RNF43):c.2068T>C (p.Tyr690His)	RNF43 (Y563H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345158	NM_017763.6(RNF43):c.2058dup (p.Ser687fs)	RNF43 (S687fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1169209	NM_017763.6(RNF43):c.2057C>G (p.Pro686Arg)	RNF43 (P559R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3240353	NM_017763.6(RNF43):c.2056C>A (p.Pro686Thr)	RNF43 (P559T +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	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 3240355	NM_017763.6(RNF43):c.2039T>C (p.Ile680Thr)	RNF43 (I553T +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2692005	NM_017763.6(RNF43):c.2034C>T (p.Cys678=)	RNF43	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3342793	NM_017763.6(RNF43):c.2027C>T (p.Pro676Leu)	RNF43 (P549L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019381	NM_017763.6(RNF43):c.2019_2025del (p.Val674fs)	RNF43 (V547fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2678391	NM_017763.6(RNF43):c.2015C>T (p.Ala672Val)	RNF43 (A545V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3240358	NM_017763.6(RNF43):c.2011G>A (p.Asp671Asn)	RNF43 (D544N +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 1039541	NM_017763.6(RNF43):c.2009A>G (p.Gln670Arg)	RNF43 (Q543R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2165324	NM_017763.6(RNF43):c.2007C>T (p.Pro669=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3342773	NM_017763.6(RNF43):c.2006C>T (p.Pro669Leu)	RNF43 (P542L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3240363	NM_017763.6(RNF43):c.2006C>A (p.Pro669His)	RNF43 (P542H +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 2016234	NM_017763.6(RNF43):c.2005C>T (p.Pro669Ser)	RNF43 (P542S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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