ClinVar for Gene (Select 1499) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384080	NM_001904.4(CTNNB1):c.1082-1G>A	CTNNB1	Single nucleotide variant (splice acceptor variant)	Exudative vitreoretinopathy 7	GLikely pathogenic
Select item 3381724	NM_001904.4(CTNNB1):c.489G>C (p.Glu163Asp)	CTNNB1, LOC126806658 (E156D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372783	NM_001904.4(CTNNB1):c.2098A>G (p.Ile700Val)	CTNNB1 (I693V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372627	NM_001904.4(CTNNB1):c.1861C>A (p.Leu621Ile)	CTNNB1 (L614I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369803	NM_001904.4(CTNNB1):c.1864_1865delinsAA (p.Ala622Asn)	CTNNB1 (A615N +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3368556	NM_001904.4(CTNNB1):c.684A>C (p.Leu228Phe)	CTNNB1, LOC126806658 (L221F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366009	NM_001904.4(CTNNB1):c.1820T>C (p.Ile607Thr)	CTNNB1 (I600T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363382	NM_001904.4(CTNNB1):c.2263G>C (p.Asp755His)	CTNNB1 (D748H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359659	NM_001904.4(CTNNB1):c.430G>C (p.Asp144His)	CTNNB1 (D137H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347114	NM_001904.4(CTNNB1):c.1215del (p.Val406fs)	CTNNB1, LOC126806659 (V399fs +1 more)	Deletion (frameshift variant)	CTNNB1-related disorder	GLikely pathogenic
Select item 3344825	NM_001904.4(CTNNB1):c.113_119del (p.Gly38fs)	CTNNB1, LOC126806658 (G31fs +1 more)	Deletion (frameshift variant)	CTNNB1-related disorder	GLikely pathogenic
Select item 3343757	NM_001904.4(CTNNB1):c.1459C>T (p.Leu487Phe)	CTNNB1, LOC126806659 (L480F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342782	NM_001904.4(CTNNB1):c.299_300del (p.Pro100fs)	CTNNB1, LOC126806658 (P100fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3340441	NM_001904.4(CTNNB1):c.88_111del (p.Tyr30_Ser37del)	CTNNB1, LOC126806658	Deletion (inframe_deletion)	Juvenile nasopharyngeal angiofibroma	GLikely pathogenic
Select item 3339047	NM_001904.4(CTNNB1):c.1081+11G>A	CTNNB1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3338877	NM_001904.4(CTNNB1):c.1512G>A (p.Trp504Ter)	CTNNB1, LOC126806659 (W497* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338876	NM_001904.4(CTNNB1):c.1081+1G>C	CTNNB1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3338669	NM_001904.4(CTNNB1):c.374T>A (p.Leu125Ter)	CTNNB1, LOC126806658 (L118* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
Select item 3337978	NM_001904.4(CTNNB1):c.1154T>G (p.Leu385Arg)	CTNNB1 (L378R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 3270137	NM_001904.4(CTNNB1):c.2159A>C (p.His720Pro)	CTNNB1 (H713P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3258045	NM_001904.4(CTNNB1):c.71_109del (p.His24_Ser37delinsPro)	CTNNB1, LOC126806658	Deletion (inframe_indel)	Neoplasm	OUncertain significance
Select item 3257135	NM_001904.4(CTNNB1):c.674G>A (p.Arg225His)	LOC126806658, CTNNB1 (R218H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256156	NM_001904.4(CTNNB1):c.1642C>T (p.Gln548Ter)	CTNNB1, LOC126806659 (Q541* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 3254556	NM_001904.4(CTNNB1):c.1585G>A (p.Glu529Lys)	CTNNB1, LOC126806659 (E522K +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GUncertain significance
Select item 3254555	NM_001904.4(CTNNB1):c.242-1G>T	CTNNB1, LOC126806658	Single nucleotide variant (splice acceptor variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 3252642	NM_001904.4(CTNNB1):c.653T>C (p.Leu218Ser)	CTNNB1, LOC126806658 (L211S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251775	NM_001904.4(CTNNB1):c.937-26_937-14del	CTNNB1	Deletion (intron variant)	not specified	GLikely benign
Select item 3246981	NC_000003.11:g.(?_41274812)_(41280833_?)dup	CTNNB1	Duplication	not provided	GUncertain significance
Select item 3246980	NC_000003.11:g.(?_41265560)_(41280833_?)dup	CTNNB1	Duplication	not provided	GUncertain significance
Select item 3246979	NC_000003.11:g.(?_41274812)_(41280833_?)del	CTNNB1	Deletion	not provided	GPathogenic
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 3078651	NM_001904.4(CTNNB1):c.1135C>T (p.Gln379Ter)	CTNNB1 (Q372* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3068311	NM_001904.4(CTNNB1):c.2121del (p.Gly708fs)	CTNNB1 (G701fs +1 more)	Deletion (frameshift variant)	CTNNB1-related disorder	GPathogenic
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 3068043	NM_001904.4(CTNNB1):c.1803+2T>G	CTNNB1	Single nucleotide variant (splice donor variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
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 3053835	NM_001904.4(CTNNB1):c.735-13TTC[2]	CTNNB1	Microsatellite (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 3048873	NM_001904.4(CTNNB1):c.861C>T (p.Asn287=)	CTNNB1	Single nucleotide variant (synonymous variant)	CTNNB1-related disorder	GLikely benign
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 3031970	NM_001904.4(CTNNB1):c.1254C>G (p.Thr418=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	CTNNB1-related disorder	GLikely benign
Select item 3023413	NM_001904.4(CTNNB1):c.1185+10G>A	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017793	NM_001904.4(CTNNB1):c.1065G>A (p.Pro355=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011392	NM_001904.4(CTNNB1):c.2137+20C>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010649	NM_001904.4(CTNNB1):c.1815T>C (p.Ser605=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010382	NM_001904.4(CTNNB1):c.1197A>G (p.Glu399=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008958	NM_001904.4(CTNNB1):c.1530T>C (p.Thr510=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002149	NM_001904.4(CTNNB1):c.1185+4A>C	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3001806	NM_001904.4(CTNNB1):c.2131C>G (p.Gln711Glu)	CTNNB1 (Q704E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998744	NM_001904.4(CTNNB1):c.1888G>T (p.Ala630Ser)	CTNNB1 (A623S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995305	NM_001904.4(CTNNB1):c.1081+8dup	CTNNB1	Duplication (intron variant)	not provided	GLikely benign
Select item 2994750	NM_001904.4(CTNNB1):c.1845A>C (p.Ala615=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990510	NM_001904.4(CTNNB1):c.1081+13A>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983103	NM_001904.4(CTNNB1):c.2343G>C (p.Leu781=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980184	NM_001904.4(CTNNB1):c.2184C>T (p.Ala728=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976483	NM_001904.4(CTNNB1):c.2284C>T (p.Leu762Phe)	CTNNB1 (L762F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976247	NM_001904.4(CTNNB1):c.2105C>T (p.Ala702Val)	CTNNB1 (A702V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975873	NM_001904.4(CTNNB1):c.2040C>T (p.Ser680=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975024	NM_001904.4(CTNNB1):c.1082G>A (p.Gly361Asp)	CTNNB1 (G354D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973314	NM_001904.4(CTNNB1):c.1186-17T>C	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972953	NM_001904.4(CTNNB1):c.1924G>C (p.Glu642Gln)	CTNNB1 (E635Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968237	NM_001904.4(CTNNB1):c.347C>T (p.Ala116Val)	CTNNB1, LOC126806658 (A109V +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 2957457	NM_001904.4(CTNNB1):c.1041A>G (p.Leu347=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956852	NM_001904.4(CTNNB1):c.1295A>G (p.Tyr432Cys)	CTNNB1, LOC126806659 (Y425C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912529	NM_001904.4(CTNNB1):c.1707A>C (p.Ile569=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911654	NM_001904.4(CTNNB1):c.150C>T (p.Gly50=)	CTNNB1, LOC126806658	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 2903966	NM_001904.4(CTNNB1):c.54A>G (p.Arg18=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881508	NM_001904.4(CTNNB1):c.1338T>C (p.Ala446=)	CTNNB1, LOC126806659	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880778	NM_001904.4(CTNNB1):c.1803+9dup	CTNNB1	Duplication (intron variant)	not provided	GBenign
Select item 2878288	NM_001904.4(CTNNB1):c.1081+7A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2877497	NM_001904.4(CTNNB1):c.858C>T (p.Leu286=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875329	NM_001904.4(CTNNB1):c.1081+13A>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874102	NM_001904.4(CTNNB1):c.2076+17A>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874101	NM_001904.4(CTNNB1):c.2076+14_2076+15del	CTNNB1	Deletion (intron variant)	not provided	GLikely benign
Select item 2868835	NM_001904.4(CTNNB1):c.2173G>A (p.Gly725Ser)	CTNNB1 (G718S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868776	NM_001904.4(CTNNB1):c.318C>T (p.Gly106=)	CTNNB1, LOC126806658	Single nucleotide variant (synonymous 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 2866114	NM_001904.4(CTNNB1):c.1101A>T (p.Gly367=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865499	NM_001904.4(CTNNB1):c.2142T>A (p.Pro714=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865068	NM_001904.4(CTNNB1):c.224C>T (p.Thr75Ile)	CTNNB1, LOC126806658 (T75I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861055	NM_001904.4(CTNNB1):c.2323G>T (p.Ala775Ser)	CTNNB1 (A775S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861049	NM_001904.4(CTNNB1):c.1804-15G>A	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859649	NM_001904.4(CTNNB1):c.1185+17C>G	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849183	NM_001904.4(CTNNB1):c.1054A>G (p.Ser352Gly)	CTNNB1 (S352G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847213	NM_001904.4(CTNNB1):c.2337T>C (p.Thr779=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845711	NM_001904.4(CTNNB1):c.1950T>C (p.Gly650=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2844761	NM_001904.4(CTNNB1):c.1803+20T>G	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844579	NM_001904.4(CTNNB1):c.1512del (p.Trp504fs)	CTNNB1, LOC126806659 (W504fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2841601	NM_001904.4(CTNNB1):c.1759C>A (p.Arg587=)	CTNNB1	Single nucleotide variant (synonymous 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 2841117	NM_001904.4(CTNNB1):c.1186-4A>T	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840778	NM_001904.4(CTNNB1):c.1125A>G (p.Gln375=)	CTNNB1	Single nucleotide variant (synonymous 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 2833687	NM_001904.4(CTNNB1):c.1838_1842dup (p.Ala615Ter)	CTNNB1 (A608* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 2828794	NM_001904.4(CTNNB1):c.2077-12A>T	CTNNB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822674	NM_001904.4(CTNNB1):c.1134T>G (p.Val378=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822057	NM_001904.4(CTNNB1):c.1931T>C (p.Leu644Pro)	CTNNB1 (L644P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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