ClinVar for Gene (Select 54894) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3390813	NM_017763.6(RNF43):c.1865C>T (p.Pro622Leu)	RNF43 (P495L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384294	NM_017763.6(RNF43):c.1057C>G (p.Leu353Val)	RNF43 (L226V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3384291	NM_017763.6(RNF43):c.2224G>A (p.Glu742Lys)	RNF43 (E615K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378058	NM_017763.6(RNF43):c.325C>A (p.Leu109Met)	RNF43 (L109M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371798	NM_017763.6(RNF43):c.347C>T (p.Pro116Leu)	RNF43 (P116L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3371429	NM_017763.6(RNF43):c.982C>T (p.Pro328Ser)	RNF43 (P201S +1 more)	Single nucleotide variant (missense variant)	not provided	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 3369863	NM_017763.6(RNF43):c.584C>T (p.Pro195Leu)	RNF43 (P195L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369821	NM_017763.6(RNF43):c.1235A>G (p.Tyr412Cys)	RNF43 (Y285C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369457	NM_017763.6(RNF43):c.452T>C (p.Leu151Pro)	RNF43 (L151P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368862	NM_017763.6(RNF43):c.344C>A (p.Ala115Asp)	RNF43 (A115D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368787	NM_017763.6(RNF43):c.341G>A (p.Arg114Gln)	RNF43 (R114Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3364975	NM_017763.6(RNF43):c.1282C>T (p.Pro428Ser)	RNF43 (P301S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364436	NM_017763.6(RNF43):c.1201G>A (p.Glu401Lys)	RNF43 (E274K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363505	NM_017763.6(RNF43):c.1408C>T (p.Pro470Ser)	RNF43 (P343S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360941	NM_017763.6(RNF43):c.1442_1445delinsT (p.Asn481_Cys482delinsIle)	RNF43	Indel (inframe_indel)	not provided	GUncertain significance
Select item 3359864	NM_017763.6(RNF43):c.2107C>A (p.Pro703Thr)	RNF43 (P576T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359399	NM_017763.6(RNF43):c.1681C>A (p.Arg561=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3343131	NM_017763.6(RNF43):c.605T>C (p.Leu202Pro)	RNF43 (L202P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342872	NM_017763.6(RNF43):c.608T>C (p.Met203Thr)	RNF43 (M203T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342801	NM_017763.6(RNF43):c.1052A>G (p.Tyr351Cys)	RNF43 (Y224C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3342768	NM_017763.6(RNF43):c.253-12CT[2]	RNF43	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 3342677	NM_017763.6(RNF43):c.346C>T (p.Pro116Ser)	RNF43 (P116S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342593	NM_017763.6(RNF43):c.271T>C (p.Cys91Arg)	RNF43 (C91R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342498	NM_017763.6(RNF43):c.1244G>A (p.Gly415Asp)	RNF43 (G288D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342488	NM_017763.6(RNF43):c.1292G>A (p.Cys431Tyr)	RNF43 (C304Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342313	NM_017763.6(RNF43):c.1381G>A (p.Gly461Arg)	RNF43 (G334R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340809	NM_017763.6(RNF43):c.*8A>G	RNF43	Single nucleotide variant (3 prime UTR variant)	not provided	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 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 3257479	NM_017763.6(RNF43):c.809C>G (p.Pro270Arg)	RNF43 (P143R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257025	NM_017763.6(RNF43):c.1809A>C (p.Ser603=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256356	NM_017763.6(RNF43):c.376-14G>C	RNF43	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256355	NM_017763.6(RNF43):c.583-13G>C	RNF43	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3256354	NM_017763.6(RNF43):c.687+24G>A	RNF43	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3243196	NC_000017.10:g.(?_56432304)_(56440981_?)del	RNF43	Deletion	not provided	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3240373	NM_017763.6(RNF43):c.658A>C (p.Ile220Leu)	RNF43 (I220L +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240371	NM_017763.6(RNF43):c.1505G>T (p.Ser502Ile)	RNF43 (S375I +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240370	NM_017763.6(RNF43):c.1619G>A (p.Gly540Glu)	RNF43 (G413E +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240369	NM_017763.6(RNF43):c.1076T>C (p.Leu359Ser)	RNF43 (L232S +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
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 3240367	NM_017763.6(RNF43):c.66G>C (p.Gln22His)	RNF43 (Q22H)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240366	NM_017763.6(RNF43):c.107T>C (p.Val36Ala)	RNF43 (V36A)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240365	NM_017763.6(RNF43):c.962C>T (p.Ser321Leu)	RNF43 (S194L +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240364	NM_017763.6(RNF43):c.1742_1762del (p.Pro581_Pro587del)	RNF43	Deletion (inframe_deletion)	Sessile serrated polyposis cancer syndrome	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 3240362	NM_017763.6(RNF43):c.1951C>A (p.His651Asn)	RNF43 (H524N +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240361	NM_017763.6(RNF43):c.200G>A (p.Gly67Asp)	RNF43 (G67D)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240360	NM_017763.6(RNF43):c.1595C>T (p.Ser532Phe)	RNF43 (S405F +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
Select item 3240359	NM_017763.6(RNF43):c.571C>A (p.Pro191Thr)	RNF43 (P191T +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	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 3240357	NM_017763.6(RNF43):c.1976G>A (p.Gly659Asp)	RNF43 (G532D +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
Select item 3240356	NM_017763.6(RNF43):c.1522C>A (p.Leu508Ile)	RNF43 (L381I +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome +1 more	GUncertain significance
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 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 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 3240352	NM_017763.6(RNF43):c.467G>C (p.Gly156Ala)	RNF43 (G156A +1 more)	Single nucleotide variant (missense variant)	Sessile serrated polyposis cancer syndrome	GUncertain significance
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 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 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 3066259	NM_017763.6(RNF43):c.1995del (p.Gly666fs)	RNF43 (G539fs +1 more)	Deletion (frameshift variant)	Sessile serrated polyposis cancer syndrome	GPathogenic
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 +1 more	GLikely pathogenic OLikely oncogenic
Select item 3037597	NM_017763.6(RNF43):c.2298G>A (p.Ser766=)	RNF43	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3026740	NM_017763.6(RNF43):c.295_296del (p.Leu99fs)	RNF43 (L99fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3020237	NM_017763.6(RNF43):c.1983C>A (p.Ser661=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3015313	NM_017763.6(RNF43):c.2184C>T (p.Cys728=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011186	NM_017763.6(RNF43):c.1852G>A (p.Ala618Thr)	RNF43 (A491T +1 more)	Single nucleotide variant (missense variant)	not provided	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 3010445	NM_017763.6(RNF43):c.1099G>A (p.Ala367Thr)	RNF43 (A240T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006190	NM_017763.6(RNF43):c.583-18T>G	RNF43	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3004972	NM_017763.6(RNF43):c.243A>G (p.Lys81=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997539	NM_017763.6(RNF43):c.94C>T (p.Leu32=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996771	NM_017763.6(RNF43):c.1306C>A (p.Arg436Ser)	RNF43 (R436S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996553	NM_017763.6(RNF43):c.450+20T>C	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996370	NM_017763.6(RNF43):c.1560G>A (p.Val520=)	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 2988699	NM_017763.6(RNF43):c.1135C>G (p.Gln379Glu)	RNF43 (Q252E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988409	NM_017763.6(RNF43):c.1183C>A (p.His395Asn)	RNF43 (H268N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988304	NM_017763.6(RNF43):c.142A>G (p.Ile48Val)	RNF43 (I48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986029	NM_017763.6(RNF43):c.1168T>G (p.Phe390Val)	RNF43 (F263V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979977	NM_017763.6(RNF43):c.1858C>T (p.Pro620Ser)	RNF43 (P620S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964462	NM_017763.6(RNF43):c.687+13G>A	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957431	NM_017763.6(RNF43):c.636C>G (p.Ile212Met)	RNF43 (I212M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956610	NM_017763.6(RNF43):c.2309-12C>T	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909078	NM_017763.6(RNF43):c.1038C>T (p.Pro346=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	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 2908193	NM_017763.6(RNF43):c.774G>A (p.Glu258=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2908192	NM_017763.6(RNF43):c.1540A>G (p.Lys514Glu)	RNF43 (K387E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907180	NM_017763.6(RNF43):c.726G>A (p.Gln242=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907104	NM_017763.6(RNF43):c.869G>A (p.Cys290Tyr)	RNF43 (C290Y +1 more)	Single nucleotide variant (missense variant)	not provided	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 2906626	NM_017763.6(RNF43):c.737G>C (p.Arg246Thr)	RNF43 (R119T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905308	NM_017763.6(RNF43):c.886C>T (p.Arg296Cys)	RNF43 (R169C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2904766	NM_017763.6(RNF43):c.253-10C>T	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902978	NM_017763.6(RNF43):c.121T>A (p.Ser41Thr)	RNF43 (S41T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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