CTNNB1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1208631	NM_001904.4(CTNNB1):c.-48-279C>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204525	NM_001904.4(CTNNB1):c.-48-183T>A	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199102	NM_001904.4(CTNNB1):c.-48-3del	CTNNB1	Deletion (intron variant)	not provided	GLikely benign
Select item 3052758	NM_001904.4(CTNNB1):c.-9G>C	CTNNB1	Single nucleotide variant (5 prime UTR variant)	CTNNB1-related disorder	GLikely benign
Select item 1199189	NM_001904.4(CTNNB1):c.1A>G (p.Met1Val)	CTNNB1 (M1V)	Single nucleotide variant (missense variant +2 more)	CTNNB1-related syndromic intellectual disability	GUncertain significance
Select item 1362552	NM_001904.4(CTNNB1):c.5C>G (p.Ala2Gly)	CTNNB1 (A2G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1610208	NM_001904.4(CTNNB1):c.13+11T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841324	NM_001904.4(CTNNB1):c.13+14A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717980	NM_001904.4(CTNNB1):c.13+19T>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910748	NM_001904.4(CTNNB1):c.13+20T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3068310	NM_001904.4(CTNNB1):c.735-22_747del	CTNNB1	Deletion (splice acceptor variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1919408	NM_001904.4(CTNNB1):c.735-20G>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554929	NM_001904.4(CTNNB1):c.735-20G>A	CTNNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053835	NM_001904.4(CTNNB1):c.735-13TTC[2]	CTNNB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2121396	NM_001904.4(CTNNB1):c.735-3C>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2691872	NM_001904.4(CTNNB1):c.735-1G>A	CTNNB1	Single nucleotide variant (splice acceptor variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1685682	NM_001904.4(CTNNB1):c.735-1G>C	CTNNB1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer	GPathogenic
Select item 1406612	NM_001904.4(CTNNB1):c.751G>C (p.Val251Leu)	CTNNB1 (V244L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318448	NM_001904.4(CTNNB1):c.761A>G (p.Tyr254Cys)	CTNNB1 (Y247C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337977	NM_001904.4(CTNNB1):c.762T>G (p.Tyr254Ter)	CTNNB1 (Y247* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2796051	NM_001904.4(CTNNB1):c.766A>G (p.Ile256Val)	CTNNB1 (I249V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973037	NM_001904.4(CTNNB1):c.768T>G (p.Ile256Met)	CTNNB1 (I256M +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 438758	NM_001904.4(CTNNB1):c.770C>T (p.Thr257Ile)	CTNNB1 (T257I +1 more)	Single nucleotide variant (missense variant)	Nephroblastoma	Gother
Select item 503913	NM_001904.4(CTNNB1):c.776_777del (p.Leu259fs)	CTNNB1 (L252fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1316722	NM_001904.4(CTNNB1):c.775C>T (p.Leu259Phe)	CTNNB1 (L252F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013467	NM_001904.4(CTNNB1):c.788del (p.Leu263fs)	CTNNB1 (L256fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 985014	NM_001904.4(CTNNB1):c.788T>G (p.Leu263Ter)	CTNNB1 (L256* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 419552	NM_001904.4(CTNNB1):c.791del (p.Leu264fs)	CTNNB1 (L257fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 521466	NM_001904.4(CTNNB1):c.796C>T (p.Gln266Ter)	CTNNB1 (Q266* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1403651	NM_001904.4(CTNNB1):c.803G>A (p.Gly268Glu)	CTNNB1 (G268E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985941	NM_001904.4(CTNNB1):c.804del (p.Ala269fs)	CTNNB1 (A262fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 930112	NM_001904.4(CTNNB1):c.807del (p.Met271fs)	CTNNB1 (M264fs +1 more)	Deletion (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1456658	NM_001904.4(CTNNB1):c.808A>T (p.Lys270Ter)	CTNNB1 (K263* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 976203	NM_001904.4(CTNNB1):c.811del (p.Met271fs)	CTNNB1 (M264fs +1 more)	Deletion (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1368821	NM_001904.4(CTNNB1):c.811_816del (p.Met271_Ala272del)	CTNNB1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1502637	NM_001904.4(CTNNB1):c.817G>T (p.Val273Leu)	CTNNB1 (V273L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3034006	NM_001904.4(CTNNB1):c.821G>T (p.Arg274Leu)	CTNNB1 (R267L +1 more)	Single nucleotide variant (missense variant)	CTNNB1-related disorder	GUncertain significance
Select item 379284	NM_001904.4(CTNNB1):c.841A>T (p.Lys281Ter)	CTNNB1 (K281* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2877497	NM_001904.4(CTNNB1):c.858C>T (p.Leu286=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635133	NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)	CTNNB1 (T282fs +1 more)	Microsatellite (frameshift variant)	CTNNB1-related disorder +1 more	GPathogenic
Select item 133954	NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)	CTNNB1 (N287S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3048873	NM_001904.4(CTNNB1):c.861C>T (p.Asn287=)	CTNNB1	Single nucleotide variant (synonymous variant)	CTNNB1-related disorder	GLikely benign
Select item 559642	NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs)	CTNNB1 (T289fs +1 more)	Indel (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1718508	NM_001904.4(CTNNB1):c.871G>A (p.Val291Ile)	CTNNB1 (V284I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062030	NM_001904.4(CTNNB1):c.876A>C (p.Lys292Asn)	CTNNB1 (K285N +1 more)	Single nucleotide variant (missense variant)	Increased bone mineral density	GUncertain significance
Select item 872006	NM_001904.4(CTNNB1):c.876_882del (p.Phe293fs)	CTNNB1 (F293fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1942640	NM_001904.4(CTNNB1):c.890C>T (p.Thr297Met)	CTNNB1 (T290M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565139	NM_001904.4(CTNNB1):c.891G>A (p.Thr297=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906721	NM_001904.4(CTNNB1):c.906A>G (p.Gln302=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1585645	NM_001904.4(CTNNB1):c.909T>C (p.Ile303=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078652	NM_001904.4(CTNNB1):c.910T>G (p.Leu304Val)	CTNNB1 (L297V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1968716	NM_001904.4(CTNNB1):c.910T>C (p.Leu304=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475056	NM_001904.4(CTNNB1):c.911T>C (p.Leu304Ser)	CTNNB1 (L304S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 981167	NM_001904.4(CTNNB1):c.917A>T (p.Tyr306Phe)	CTNNB1 (Y299F +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GUncertain significance
Select item 2444413	NM_001904.4(CTNNB1):c.923del (p.Asn308fs)	CTNNB1 (N301fs +1 more)	Deletion (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
Select item 817765	NM_001904.4(CTNNB1):c.925del (p.Gln309fs)	CTNNB1 (Q302fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 39656	NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter)	CTNNB1 (Q309* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 1911085	NM_001904.4(CTNNB1):c.927A>G (p.Gln309=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987475	NM_001904.4(CTNNB1):c.928G>T (p.Glu310Ter)	CTNNB1 (E303* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2611077	NM_001904.4(CTNNB1):c.929A>G (p.Glu310Gly)	CTNNB1 (E303G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2743211	NM_001904.4(CTNNB1):c.930A>G (p.Glu310=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678673	NM_001904.4(CTNNB1):c.931A>G (p.Ser311Gly)	CTNNB1 (S304G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471203	NM_001904.4(CTNNB1):c.936+1G>T	CTNNB1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1583846	NM_001904.4(CTNNB1):c.936+10T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573688	NM_001904.4(CTNNB1):c.936+12A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2099969	NM_001904.4(CTNNB1):c.936+13T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616842	NM_001904.4(CTNNB1):c.936+15C>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1668296	NM_001904.4(CTNNB1):c.936+18T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264614	NM_001904.4(CTNNB1):c.936+173A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3251775	NM_001904.4(CTNNB1):c.937-26_937-14del	CTNNB1	Deletion (intron variant)	not specified	GLikely benign
Select item 1678307	NM_001904.4(CTNNB1):c.937-22AT[3]	CTNNB1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1488153	NM_001904.4(CTNNB1):c.937-22AT[4]	CTNNB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2789333	NM_001904.4(CTNNB1):c.937-19T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866115	NM_001904.4(CTNNB1):c.937-16A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838013	NM_001904.4(CTNNB1):c.937-15T>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1965098	NM_001904.4(CTNNB1):c.937-12A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754195	NM_001904.4(CTNNB1):c.937-10A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703910	NM_001904.4(CTNNB1):c.937-8C>A	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708946	NM_001904.4(CTNNB1):c.937-6T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1486308	NM_001904.4(CTNNB1):c.937-5T>C	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 449750	NM_001904.4(CTNNB1):c.937-2A>G	CTNNB1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1316944	NM_001904.4(CTNNB1):c.937C>T (p.Leu313Phe)	CTNNB1 (L306F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2031634	NM_001904.4(CTNNB1):c.942C>T (p.Ile314=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981362	NM_001904.4(CTNNB1):c.942del (p.Ile315fs)	CTNNB1 (I308fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 1316984	NM_001904.4(CTNNB1):c.943A>G (p.Ile315Val)	CTNNB1 (I315V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665491	NM_001904.4(CTNNB1):c.946C>T (p.Leu316=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698665	NM_001904.4(CTNNB1):c.954T>C (p.Ser318=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523962	NM_001904.4(CTNNB1):c.959dup (p.Pro321fs)	CTNNB1 (P321fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2632305	NM_001904.4(CTNNB1):c.965A>G (p.Gln322Arg)	CTNNB1 (Q315R +1 more)	Single nucleotide variant (missense variant)	CTNNB1-related disorder +1 more	GUncertain significance
Select item 1609145	NM_001904.4(CTNNB1):c.969T>A (p.Ala323=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901304	NM_001904.4(CTNNB1):c.970T>C (p.Leu324=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 959372	NM_001904.4(CTNNB1):c.970T>G (p.Leu324Val)	CTNNB1 (L324V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965032	NM_001904.4(CTNNB1):c.972A>G (p.Leu324=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606946	NM_001904.4(CTNNB1):c.978T>C (p.Asn326=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 916261	NM_001904.4(CTNNB1):c.981_982del (p.Met328fs)	CTNNB1 (M328fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2179467	NM_001904.4(CTNNB1):c.990C>G (p.Thr330=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 279956	NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)	CTNNB1 (Y326* +1 more)	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 1708496	NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)	CTNNB1	Deletion (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 987152	NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter)	CTNNB1 (Y326* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome +1 more	GPathogenic
Select item 450550	NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)	CTNNB1 (Y333* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic

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