ClinVar for Gene (Select 54894) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	GLikely pathogenic
Select item 3037597	NM_017763.6(RNF43):c.2298G>A (p.Ser766=)	RNF43	Single nucleotide variant (synonymous variant)	RNF43-related disorder	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 provided +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	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	GUncertain significance
Select item 2902776	NM_017763.6(RNF43):c.952+18del	RNF43	Deletion (intron variant)	not provided	GLikely benign
Select item 2902628	NM_017763.6(RNF43):c.376-13dup	RNF43	Duplication (intron variant)	not provided	GLikely benign
Select item 2902316	NM_017763.6(RNF43):c.850-13T>C	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902231	NM_017763.6(RNF43):c.687+16T>G	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899919	NM_017763.6(RNF43):c.20T>C (p.Leu7Pro)	RNF43 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898707	NM_017763.6(RNF43):c.850-3C>T	RNF43	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2898699	NM_017763.6(RNF43):c.143T>A (p.Ile48Asn)	RNF43 (I48N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895975	NM_017763.6(RNF43):c.1626C>G (p.Thr542=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895535	NM_017763.6(RNF43):c.703A>C (p.Arg235=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893302	NM_017763.6(RNF43):c.1374G>T (p.Leu458=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893180	NM_017763.6(RNF43):c.253-9dup	RNF43	Duplication (intron variant)	not provided	GLikely benign
Select item 2891820	NM_017763.6(RNF43):c.809C>T (p.Pro270Leu)	RNF43 (P270L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891704	NM_017763.6(RNF43):c.1468G>A (p.Val490Ile)	RNF43 (V363I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891230	NM_017763.6(RNF43):c.1768G>T (p.Glu590Ter)	RNF43 (E463* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2891229	NM_017763.6(RNF43):c.656G>T (p.Arg219Leu)	RNF43 (R92L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891195	NM_017763.6(RNF43):c.1309C>T (p.Arg437Trp)	RNF43 (R310W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891194	NM_017763.6(RNF43):c.1207C>T (p.Gln403Ter)	RNF43 (Q276* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2890538	NM_017763.6(RNF43):c.1331G>A (p.Ser444Asn)	RNF43 (S317N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890523	NM_017763.6(RNF43):c.24G>A (p.Gln8=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890208	NM_017763.6(RNF43):c.2286C>T (p.Cys762=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890188	NM_017763.6(RNF43):c.169C>T (p.Pro57Ser)	RNF43 (P57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889862	NM_017763.6(RNF43):c.1203G>A (p.Glu401=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889845	NM_017763.6(RNF43):c.1442A>G (p.Asn481Ser)	RNF43 (N354S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888179	NM_017763.6(RNF43):c.1655G>A (p.Arg552His)	RNF43 (R552H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887612	NM_017763.6(RNF43):c.1895T>C (p.Ile632Thr)	RNF43 (I505T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886998	NM_017763.6(RNF43):c.633G>A (p.Val211=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886541	NM_017763.6(RNF43):c.543G>A (p.Lys181=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885901	NM_017763.6(RNF43):c.1894A>G (p.Ile632Val)	RNF43 (I632V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2885358	NM_017763.6(RNF43):c.879G>A (p.Glu293=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884687	NM_017763.6(RNF43):c.356G>A (p.Cys119Tyr)	RNF43 (C119Y)	Single nucleotide variant (missense variant +1 more)	not provided	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 2883636	NM_017763.6(RNF43):c.1744A>G (p.Ile582Val)	RNF43 (I582V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883606	NM_017763.6(RNF43):c.959A>G (p.Asp320Gly)	RNF43 (D193G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874094	NM_017763.6(RNF43):c.1231C>A (p.Pro411Thr)	RNF43 (P284T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860437	NM_017763.6(RNF43):c.1109del (p.Pro370fs)	RNF43 (P243fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2859365	NM_017763.6(RNF43):c.314G>A (p.Ser105Asn)	RNF43 (S105N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2853800	NM_017763.6(RNF43):c.604_605insAATGATGTGTGGATCC (p.Leu202delinsGlnTer)	RNF43	Insertion (nonsense)	not provided	GUncertain significance
Select item 2851456	NM_017763.6(RNF43):c.1418G>T (p.Gly473Val)	RNF43 (G346V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848281	NM_017763.6(RNF43):c.6T>C (p.Ser2=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837516	NM_017763.6(RNF43):c.1033C>G (p.His345Asp)	RNF43 (H218D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835294	NM_017763.6(RNF43):c.194T>G (p.Leu65Trp)	RNF43 (L65W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831522	NM_017763.6(RNF43):c.1576G>C (p.Val526Leu)	RNF43 (V526L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829573	NM_017763.6(RNF43):c.1688_1689del (p.Gln563fs)	RNF43 (Q436fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2828786	NM_017763.6(RNF43):c.1724T>C (p.Val575Ala)	RNF43 (V575A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825897	NM_017763.6(RNF43):c.1751G>C (p.Arg584Pro)	RNF43 (R584P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825178	NM_017763.6(RNF43):c.688-7T>C	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825058	NM_017763.6(RNF43):c.2334G>C (p.Leu778=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2820971	NM_017763.6(RNF43):c.433C>A (p.Arg145=)	RNF43	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819983	NM_017763.6(RNF43):c.334C>T (p.Pro112Ser)	RNF43 (P112S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2811476	NM_017763.6(RNF43):c.514C>A (p.Leu172Met)	RNF43 (L45M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810845	NM_017763.6(RNF43):c.929C>T (p.Pro310Leu)	RNF43 (P183L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792999	NM_017763.6(RNF43):c.1723G>C (p.Val575Leu)	RNF43 (V575L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781816	NM_017763.6(RNF43):c.1334G>A (p.Gly445Glu)	RNF43 (G318E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776625	NM_017763.6(RNF43):c.1851G>C (p.Arg617Ser)	RNF43 (R490S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770048	NM_017763.6(RNF43):c.977T>C (p.Leu326Pro)	RNF43 (L326P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767718	NM_017763.6(RNF43):c.376-8C>A	RNF43	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765537	NM_017763.6(RNF43):c.1267T>C (p.Ser423Pro)	RNF43 (S296P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759500	NM_017763.6(RNF43):c.1157G>T (p.Arg386Leu)	RNF43 (R386L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754283	NM_017763.6(RNF43):c.1972G>A (p.Gly658Arg)	RNF43 (G531R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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