ClinVar for MedGen (Select 83428) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3257758	NM_004333.6(BRAF):c.1798_1799delinsAA	BRAF (V600E +15 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
Select item 3256158	NM_000179.3(MSH6):c.2561_2562delinsTT	MSH6 (K854M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3240842	NM_004655.4(AXIN2):c.1405C>G (p.His469Asp)	AXIN2 (H469D)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 3240841	NM_004655.4(AXIN2):c.128G>C (p.Gly43Ala)	AXIN2 (G43A)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 3240840	NM_004655.4(AXIN2):c.856G>C (p.Gly286Arg)	AXIN2 (G286R)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 3240839	NM_004655.4(AXIN2):c.1540_1554dup (p.Tyr518_Ile519insValHisHisHisTyr)	AXIN2	Duplication (inframe_insertion)	Colorectal cancer	GUncertain significance
Select item 3240837	NM_004655.4(AXIN2):c.184_186dup (p.Leu62_Gly63insLeu)	AXIN2	Duplication (inframe_insertion)	Colorectal cancer	GUncertain significance
Select item 3240836	NM_004655.4(AXIN2):c.1714G>C (p.Gly572Arg)	AXIN2 (G572R)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer	GUncertain significance
Select item 3240835	NM_004655.4(AXIN2):c.1093G>T (p.Val365Leu)	AXIN2 (V365L)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 3240834	NM_004655.4(AXIN2):c.2315G>C (p.Gly772Ala)	AXIN2 (G707A +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 3224409	NM_004655.4(AXIN2):c.649A>T (p.Ser217Cys)	AXIN2 (S217C)	Single nucleotide variant (missense variant)	Colorectal cancer +1 more	GUncertain significance
Select item 3065561	NM_198437.3(AURKA):c.1085G>T (p.Arg362Ile)	AURKA (R362I +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 3063816	NM_000038.6(APC):c.[5026A>G;7399C>A]	APC (R1676G +25 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2973252	NM_004655.4(AXIN2):c.1027G>A (p.Ala343Thr)	AXIN2 (A343T)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 2879323	NM_004655.4(AXIN2):c.995A>G (p.Gln332Arg)	AXIN2 (Q332R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2746814	NM_004655.4(AXIN2):c.1960G>A (p.Gly654Ser)	AXIN2 (G654S +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 2732794	NM_001429.4(EP300):c.3872A>C (p.Lys1291Thr)	EP300 (K1291T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2683854	NM_000038.6(APC):c.3036T>A (p.Asn1012Lys)	APC (N1002K +18 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer +1 more	GLikely pathogenic
Select item 2679891	NM_004655.4(AXIN2):c.2172del (p.Asn725fs)	AXIN2 (N660fs +1 more)	Deletion (frameshift variant)	Colorectal cancer	GLikely pathogenic
Select item 2679890	NM_004655.4(AXIN2):c.816-2A>G	AXIN2	Single nucleotide variant (splice acceptor variant)	Colorectal cancer	GLikely pathogenic
Select item 2679889	NM_004655.4(AXIN2):c.816-1G>A	AXIN2	Single nucleotide variant (splice acceptor variant)	Colorectal cancer +1 more	GLikely pathogenic
Select item 2679888	NM_004655.4(AXIN2):c.1059+5G>C	AXIN2	Single nucleotide variant (intron variant)	Colorectal cancer	GLikely pathogenic
Select item 2679887	NM_004655.4(AXIN2):c.1150G>T (p.Glu384Ter)	AXIN2 (E384*)	Single nucleotide variant (nonsense)	Colorectal cancer	GLikely pathogenic
Select item 2679886	NM_004655.4(AXIN2):c.1154T>A (p.Leu385Ter)	AXIN2 (L385*)	Single nucleotide variant (nonsense)	Colorectal cancer	GLikely pathogenic
Select item 2679885	NM_004655.4(AXIN2):c.666_667del (p.Cys222fs)	AXIN2 (C222fs)	Microsatellite (frameshift variant)	Colorectal cancer	GLikely pathogenic
Select item 2679884	NM_004655.4(AXIN2):c.1601A>G (p.Glu534Gly)	AXIN2 (E534G)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679883	NM_004655.4(AXIN2):c.45C>A (p.Ser15Arg)	AXIN2 (S15R)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679882	NM_004655.4(AXIN2):c.826A>G (p.Arg276Gly)	AXIN2 (R276G)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679881	NM_004655.4(AXIN2):c.742G>T (p.Val248Phe)	AXIN2 (V248F)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679880	NM_004655.4(AXIN2):c.47G>A (p.Ser16Asn)	AXIN2 (S16N)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679878	NM_004655.4(AXIN2):c.1256C>G (p.Thr419Arg)	AXIN2 (T419R)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679877	NM_004655.4(AXIN2):c.590T>A (p.Leu197His)	AXIN2 (L197H)	Single nucleotide variant (missense variant)	Colorectal cancer +1 more	GUncertain significance
Select item 2679876	NM_004655.4(AXIN2):c.369G>T (p.Lys123Asn)	AXIN2 (K123N)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679874	NM_004655.4(AXIN2):c.2489T>G (p.Met830Arg)	AXIN2 (M765R +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679873	NM_004655.4(AXIN2):c.875C>T (p.Ala292Val)	AXIN2 (A292V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2679872	NM_004655.4(AXIN2):c.166A>G (p.Arg56Gly)	AXIN2 (R56G)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 2679871	NM_004655.4(AXIN2):c.575C>G (p.Thr192Ser)	AXIN2 (T192S)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679870	NM_004655.4(AXIN2):c.605G>T (p.Ser202Ile)	AXIN2 (S202I)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679869	NM_004655.4(AXIN2):c.1040T>C (p.Val347Ala)	AXIN2 (V347A)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679868	NM_004655.4(AXIN2):c.232T>G (p.Trp78Gly)	AXIN2 (W78G)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2679867	NM_004655.4(AXIN2):c.503C>T (p.Ser168Phe)	AXIN2 (S168F)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 2586375	NM_004655.4(AXIN2):c.14T>C (p.Met5Thr)	AXIN2 (M5T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2583537	NM_004655.4(AXIN2):c.94del (p.Glu32fs)	AXIN2 (E32fs)	Deletion (frameshift variant)	Colorectal cancer +1 more	GPathogenic/Likely pathogenic
Select item 2583406	NM_004655.4(AXIN2):c.74del (p.Pro25fs)	AXIN2 (P25fs)	Deletion (frameshift variant)	Colorectal cancer +1 more	GPathogenic/Likely pathogenic
Select item 2566137	NM_004655.4(AXIN2):c.349T>G (p.Phe117Val)	AXIN2 (F117V)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 2566119	NM_004655.4(AXIN2):c.1496T>G (p.Leu499Arg)	AXIN2 (L499R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2566114	NM_004655.4(AXIN2):c.671A>C (p.Tyr224Ser)	AXIN2 (Y224S)	Single nucleotide variant (missense variant)	Colorectal cancer +2 more	GUncertain significance
Select item 2499621	NM_000057.4(BLM):c.3254dup (p.Arg1086fs)	BLM (R1086fs +1 more)	Duplication (frameshift variant)	Colorectal cancer +2 more	GPathogenic
Select item 2471381	NM_004655.4(AXIN2):c.1634G>C (p.Gly545Ala)	AXIN2 (G545A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2451653	NM_004655.4(AXIN2):c.1399C>G (p.Pro467Ala)	AXIN2 (P467A)	Single nucleotide variant (missense variant)	Colorectal cancer +2 more	GUncertain significance
Select item 2431398	NM_001318789.2(TLR2):c.301del (p.Ser101fs)	TLR2 (S101fs)	Deletion (frameshift variant)	Colorectal cancer	GUncertain significance
Select item 2067600	NM_004655.4(AXIN2):c.1799C>T (p.Pro600Leu)	AXIN2 (P600L)	Single nucleotide variant (missense variant +1 more)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 2059267	NM_004655.4(AXIN2):c.1186C>T (p.Gln396Ter)	AXIN2 (Q396*)	Single nucleotide variant (nonsense)	Colorectal cancer +1 more	GPathogenic/Likely pathogenic
Select item 1972070	NM_004655.4(AXIN2):c.2462T>C (p.Ile821Thr)	AXIN2 (I756T +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +1 more	GUncertain significance
Select item 1921896	NM_004655.4(AXIN2):c.1894C>T (p.Pro632Ser)	AXIN2 (P632S)	Single nucleotide variant (missense variant +1 more)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 1791103	NM_004655.4(AXIN2):c.2427C>A (p.Ser809Arg)	AXIN2 (S809R +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 1788865	NM_004655.4(AXIN2):c.2276T>A (p.Leu759His)	AXIN2 (L759H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1788643	NM_004655.4(AXIN2):c.2261C>T (p.Ala754Val)	AXIN2 (A754V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1788195	NM_004655.4(AXIN2):c.2236G>T (p.Asp746Tyr)	AXIN2 (D746Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1781359	NM_004655.4(AXIN2):c.1852G>A (p.Asp618Asn)	AXIN2 (D618N)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1779808	NM_004655.4(AXIN2):c.1771G>A (p.Ala591Thr)	AXIN2 (A591T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer +2 more	GUncertain significance
Select item 1778510	NM_004655.4(AXIN2):c.1709T>C (p.Phe570Ser)	AXIN2 (F570S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1774612	NM_004655.4(AXIN2):c.1042T>C (p.Ser348Pro)	AXIN2 (S348P)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 1774079	NM_004655.4(AXIN2):c.1505G>T (p.Gly502Val)	AXIN2 (G502V)	Single nucleotide variant (missense variant)	Colorectal cancer +2 more	GUncertain significance
Select item 1765709	NM_004655.4(AXIN2):c.907T>A (p.Ser303Thr)	AXIN2 (S303T)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 1765559	NM_004655.4(AXIN2):c.1271C>T (p.Ser424Phe)	AXIN2 (S424F)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome +2 more	GUncertain significance
Select item 1760053	NM_004655.4(AXIN2):c.766A>G (p.Arg256Gly)	AXIN2 (R256G)	Single nucleotide variant (missense variant)	Colorectal cancer +1 more	GUncertain significance
Select item 1756871	NM_004655.4(AXIN2):c.704C>G (p.Thr235Ser)	AXIN2 (T235S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1730811	NM_004655.4(AXIN2):c.337G>T (p.Ala113Ser)	AXIN2 (A113S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1723606	NM_004655.4(AXIN2):c.1505G>A (p.Gly502Asp)	AXIN2 (G502D)	Single nucleotide variant (missense variant)	Colorectal cancer +2 more	GUncertain significance
Select item 1709888	NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)	MSH6 (W1002* +9 more)	Single nucleotide variant (nonsense)	Colorectal cancer +1 more	GPathogenic/Likely pathogenic
Select item 1703207	NM_000059.4(BRCA2):c.2312del (p.Ile770_Leu771insTer)	BRCA2	Deletion (nonsense)	Colorectal cancer	GPathogenic
Select item 1703206	NM_007294.4(BRCA1):c.1439del (p.Asn480fs)	BRCA1 (N433fs +20 more)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 1703205	NM_007294.4(BRCA1):c.1378del (p.Ile460fs)	BRCA1 (I413fs +20 more)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 1703202	NM_000059.4(BRCA2):c.7704del (p.Phe2568fs)	BRCA2 (F2568fs)	Deletion (frameshift variant)	Colorectal cancer	GLikely pathogenic
Select item 1700650	NM_001903.5(CTNNA1):c.2470A>G (p.Asn824Asp)	CTNNA1 (N341D +9 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Colorectal cancer	GUncertain significance
Select item 1700648	NM_001903.5(CTNNA1):c.2600del (p.Lys867fs)	CTNNA1 (K384fs +9 more)	Deletion (3 prime UTR variant +1 more)	Colorectal cancer	GPathogenic
Select item 1700598	NM_001903.5(CTNNA1):c.163T>C (p.Ser55Pro)	CTNNA1 (S55P)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer	GUncertain significance
Select item 1700597	NM_001903.5(CTNNA1):c.2047A>G (p.Lys683Glu)	CTNNA1 (K200E +7 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GUncertain significance
Select item 1700596	NM_001903.5(CTNNA1):c.1944del (p.Phe648fs)	CTNNA1 (F165fs +7 more)	Deletion (frameshift variant)	Colorectal cancer	GUncertain significance
Select item 1700595	NM_001903.5(CTNNA1):c.1597A>G (p.Lys533Glu)	CTNNA1 (K132E +7 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1700594	NM_001903.5(CTNNA1):c.1645del (p.Ala549fs)	CTNNA1 (A148fs +7 more)	Deletion (frameshift variant)	Colorectal cancer	GUncertain significance
Select item 1700593	NM_001903.5(CTNNA1):c.1045del (p.Ser349fs)	CTNNA1 (S226fs +2 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 1700592	NM_001903.5(CTNNA1):c.297del (p.Lys99fs)	CTNNA1 (K99fs)	Deletion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 1700591	NM_001903.5(CTNNA1):c.2043del (p.Ala682fs)	CTNNA1 (A199fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1700590	NM_001903.5(CTNNA1):c.1229A>G (p.Asn410Ser)	CTNNA1 (N287S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1700589	NM_001903.5(CTNNA1):c.2213del (p.Asn738fs)	CTNNA1 (N255fs +7 more)	Deletion (frameshift variant)	Colorectal cancer	GLikely pathogenic
Select item 1698393	NM_004336.5(BUB1):c.2374CTT[1] (p.Leu793del)	BUB1 (L773del +1 more)	Microsatellite (inframe_deletion)	Colorectal cancer	GUncertain significance
Select item 1697644	NM_004655.4(AXIN2):c.1786G>A (p.Glu596Lys)	AXIN2 (E596K)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer +2 more	GUncertain significance
Select item 1691355	NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)	FGFR3 (P461L +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 1685771	NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile)	EP300 (F1569I +1 more)	Single nucleotide variant (missense variant)	Colorectal cancer	GPathogenic
Select item 1685770	NM_001429.4(EP300):c.3875-2A>C	EP300	Single nucleotide variant (splice acceptor variant)	Colorectal cancer	GPathogenic
Select item 1685682	NM_001904.4(CTNNB1):c.735-1G>C	CTNNB1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer	GPathogenic
Select item 1685577	NM_004333.6(BRAF):c.1591T>C (p.Trp531Arg)	BRAF (W443R +7 more)	Single nucleotide variant (missense variant)	Colorectal cancer +1 more	GPathogenic
Select item 1685524	NM_000038.6(APC):c.4434_4437del (p.Arg1478fs)	APC (R1195fs +12 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 1685523	NM_000038.6(APC):c.1798del (p.Thr600fs)	APC (T317fs +12 more)	Deletion (frameshift variant)	Colorectal cancer	GPathogenic
Select item 1685522	NM_000038.6(APC):c.833_834insT (p.Gln278fs)	APC (Q219fs +5 more)	Insertion (frameshift variant +1 more)	Colorectal cancer	GPathogenic
Select item 1685521	NM_000038.6(APC):c.412G>T (p.Glu138Ter)	APC (E113* +3 more)	Single nucleotide variant (nonsense +1 more)	Colorectal cancer +1 more	GPathogenic
Select item 1685243	NM_000038.6(APC):c.645+2T>C	APC	Single nucleotide variant (splice donor variant)	Colorectal cancer	GLikely pathogenic
Select item 1684285	NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)	FGFR3 (P62S)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance

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