List of variants in gene CTNNB1 reported as pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys)	rs748653573	0.00002
NC_000003.11:g.(?_41274812)_(41280833_?)del
NM_001904.4(CTNNB1):c.1014G>A (p.Trp338Ter)	rs1454068577
NM_001904.4(CTNNB1):c.1033A>T (p.Lys345Ter)	rs2125628072
NM_001904.4(CTNNB1):c.1041_1042del (p.Ser348fs)	rs2470799025
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)	rs1575320216
NM_001904.4(CTNNB1):c.1043_1044del (p.Ser348fs)	rs886041444
NM_001904.4(CTNNB1):c.1081+1G>A	rs2078201673
NM_001904.4(CTNNB1):c.1081+1G>C
NM_001904.4(CTNNB1):c.1081+1G>T	rs2078201673
NM_001904.4(CTNNB1):c.1082-1G>C	rs2125637461
NM_001904.4(CTNNB1):c.1082-2A>G
NM_001904.4(CTNNB1):c.1090C>T (p.Gln364Ter)	rs1559474040
NM_001904.4(CTNNB1):c.1097T>G (p.Leu366Ter)	rs758207378
NM_001904.4(CTNNB1):c.1135C>T (p.Gln379Ter)	rs2125637783
NM_001904.4(CTNNB1):c.1140_1147del (p.Asn380fs)	rs1575328856
NM_001904.4(CTNNB1):c.1142_1143del (p.Cys381fs)	rs2125637830
NM_001904.4(CTNNB1):c.1154_1155del (p.Leu385fs)	rs2470825988
NM_001904.4(CTNNB1):c.1158del (p.Asn387fs)	rs1553631783
NM_001904.4(CTNNB1):c.1706_1707dup (p.Val570Ter)	rs2125644619
NM_001904.4(CTNNB1):c.1706del (p.Ile569fs)	rs2125644627
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg)	rs797044875
NM_001904.4(CTNNB1):c.1723G>C (p.Gly575Arg)
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)	rs1064796453
NM_001904.4(CTNNB1):c.1768dup (p.Ile590fs)	rs1575333081
NM_001904.4(CTNNB1):c.1782_1783del (p.Thr595fs)	rs2470843357
NM_001904.4(CTNNB1):c.1788del (p.Pro597fs)	rs2125645038
NM_001904.4(CTNNB1):c.1829_1832del (p.Ile610fs)	rs2078435023
NM_001904.4(CTNNB1):c.1836_1837dup (p.Val613fs)	rs2470846924
NM_001904.4(CTNNB1):c.1838_1842dup (p.Ala615Ter)	rs2470846943
NM_001904.4(CTNNB1):c.1848_1858del (p.Val617fs)	rs2470847034
NM_001904.4(CTNNB1):c.1849dup (p.Val617fs)	rs2470847019
NM_001904.4(CTNNB1):c.1850del (p.Val617fs)
NM_001904.4(CTNNB1):c.1863dup (p.Ala622fs)	rs2470847156
NM_001904.4(CTNNB1):c.1867C>T (p.Gln623Ter)	rs864309577
NM_001904.4(CTNNB1):c.1870dup (p.Asp624fs)	rs2078435846
NM_001904.4(CTNNB1):c.1873A>T (p.Lys625Ter)	rs2470847228
NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter)	rs1575334103
NM_001904.4(CTNNB1):c.1904dup (p.Ala636fs)	rs2470847361
NM_001904.4(CTNNB1):c.1923dup (p.Glu642fs)	rs2125646219
NM_001904.4(CTNNB1):c.1924G>T (p.Glu642Ter)	rs2078436466
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)	rs1553632361
NM_001904.4(CTNNB1):c.1961_1962del (p.Tyr654fs)	rs2470848814
NM_001904.4(CTNNB1):c.1962T>G (p.Tyr654Ter)	rs750402920
NM_001904.4(CTNNB1):c.1968_1969dup (p.Ala657fs)	rs1575334396
NM_001904.4(CTNNB1):c.1976del (p.Leu659fs)	rs2078441559
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)	rs748294403
NM_001904.4(CTNNB1):c.1981del (p.Arg661fs)	rs2470849092
NM_001904.4(CTNNB1):c.2007_2014del (p.Asp669fs)	rs2470849345
NM_001904.4(CTNNB1):c.2008dup (p.Tyr670fs)	rs2125647138
NM_001904.4(CTNNB1):c.2069G>A (p.Trp690Ter)	rs1553632412
NM_001904.4(CTNNB1):c.2076+1G>A
NM_001904.4(CTNNB1):c.2076+2T>C	rs1553632414
NM_001904.4(CTNNB1):c.2083del (p.Asp695fs)	rs2470857118
NM_001904.4(CTNNB1):c.2112_2116dup (p.Pro706fs)	rs2470857313
NM_001904.4(CTNNB1):c.2112dup (p.Glu705fs)	rs1559478415
NM_001904.4(CTNNB1):c.2119dup (p.Leu707fs)	rs1575337368
NM_001904.4(CTNNB1):c.2121del (p.Gly708fs)	rs2470857399
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)	rs2470857414
NM_001904.4(CTNNB1):c.2138_2141del (p.Asp713fs)	rs2470863944
NM_001904.4(CTNNB1):c.2139del (p.Pro714fs)	rs2125652997
NM_001904.4(CTNNB1):c.2141del (p.Pro714fs)	rs2125653005
NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter)	rs1057519380
NM_001904.4(CTNNB1):c.2144_2147del (p.Ser715fs)	rs2470864022
NM_001904.4(CTNNB1):c.735-1G>A	rs2125623951
NM_001904.4(CTNNB1):c.735-1G>C	rs2125623951
NM_001904.4(CTNNB1):c.735-22_747del	rs2470788264
NM_001904.4(CTNNB1):c.762T>G (p.Tyr254Ter)
NM_001904.4(CTNNB1):c.776_777del (p.Leu259fs)	rs1553630458
NM_001904.4(CTNNB1):c.788T>G (p.Leu263Ter)	rs2078159952
NM_001904.4(CTNNB1):c.788del (p.Leu263fs)	rs2078159857
NM_001904.4(CTNNB1):c.791del (p.Leu264fs)	rs1064793948
NM_001904.4(CTNNB1):c.796C>T (p.Gln266Ter)	rs1553630472
NM_001904.4(CTNNB1):c.804del (p.Ala269fs)	rs2078160204
NM_001904.4(CTNNB1):c.807del (p.Met271fs)	rs2078160286
NM_001904.4(CTNNB1):c.808A>T (p.Lys270Ter)	rs2125624259
NM_001904.4(CTNNB1):c.811del (p.Met271fs)	rs2078160335
NM_001904.4(CTNNB1):c.841A>T (p.Lys281Ter)	rs1057520556
NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs)	rs1553630507
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)	rs2470790178
NM_001904.4(CTNNB1):c.876_882del (p.Phe293fs)	rs2078161525
NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter)	rs376393123
NM_001904.4(CTNNB1):c.925del (p.Gln309fs)	rs1575317915
NM_001904.4(CTNNB1):c.928G>T (p.Glu310Ter)	rs2078162308
NM_001904.4(CTNNB1):c.937-2A>G	rs1553630789
NM_001904.4(CTNNB1):c.942del (p.Ile315fs)	rs2078196892
NM_001904.4(CTNNB1):c.959dup (p.Pro321fs)	rs1553630795
NM_001904.4(CTNNB1):c.981_982del (p.Met328fs)	rs2078198486
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)	rs886041281
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)	rs778624338
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter)	rs778624338
NM_001904.4(CTNNB1):c.999_1006delinsT (p.Glu334fs)
NM_001904.4(CTNNB1):c.999del (p.Thr332_Tyr333insTer)	rs2470798474

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