Related gene-specific medical variations for Gene (Select 8313) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361921	NM_004655.4(AXIN2):c.1625T>G (p.Phe542Cys)	AXIN2 (F542C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361417	NM_004655.4(AXIN2):c.1810G>C (p.Gly604Arg)	AXIN2 (G604R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360612	NM_004655.4(AXIN2):c.1466C>G (p.Pro489Arg)	AXIN2 (P489R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359338	NM_004655.4(AXIN2):c.247_255del (p.His83_Leu85del)	AXIN2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3243036	NC_000017.10:g.(?_63530010)_(63554738_?)dup	AXIN2	Duplication	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 3243035	NC_000017.10:g.(?_63545628)_(63545788_?)dup	AXIN2	Duplication	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 3243034	NC_000017.10:g.(?_63553914)_(63554738_?)dup	AXIN2	Duplication	Oligodontia-cancer predisposition syndrome	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 3065145	NM_004655.4(AXIN2):c.737C>T (p.Thr246Ile)	AXIN2 (T246I)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GLikely benign
Select item 3063502	GRCh37/hg19 17q24.1(chr17:63481404-63618180)x3	AXIN2	Copy number gain	not specified	GUncertain significance
Select item 2682047	NM_004655.4(AXIN2):c.1426C>T (p.Gln476Ter)	AXIN2 (Q476*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2682037	NM_004655.4(AXIN2):c.1019G>T (p.Ser340Ile)	AXIN2 (S340I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 2439452	NM_004655.4(AXIN2):c.1937T>C (p.Leu646Ser)	AXIN2 (L581S +1 more)	Single nucleotide variant (missense variant)	Oligodontia-cancer predisposition syndrome	GUncertain significance

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Links from Gene

Items: 39