Unique variants in the CTNNB1 gene

Information The variants shown are described using the NM_001904.3 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.40A>G r.(?) p.(Met14Val) - VUS g.41266043A>G g.41224552A>G - - CTNNB1_000013 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+?/. 1 - c.82C>T r.(?) p.(Gln28Ter) - likely pathogenic g.41266085C>T - - - CTNNB1_000104 - - - - Unknown - - - - - MobiDetails
+/. 1 - c.99_100del r.(?) p.(Gly34Asnfs*15) - pathogenic g.41266102_41266103del g.41224611_41224612del 99_100delTG - CTNNB1_000077 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
+/., +?/. 2 3 c.110C>A r.(?) p.(Ser37Tyr) - likely pathogenic, pathogenic g.41266113C>A g.41224622C>A CTNNB1(NM_001098209.2):c.110C>A (p.S37Y), p.S37Y - CTNNB1_000015 VKGL data sharing initiative Nederland PubMed: Fu 2018 - - CLASSIFICATION record, Somatic - reported as 0.31 - - - Rosemary Ekong, VKGL-NL_Utrecht
./. 1 - c.226C>G r.(?) p.(Gln76Glu) - VUS g.41266229C>G g.41224738C>G - - CTNNB1_000014 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 2 - c.268C>T r.(?) p.(Arg90Ter) - pathogenic g.41266471C>T g.41224980C>T CTNNB1(NM_001904.3):c.268C>T (p.R90*) - CTNNB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.274C>T r.(?) p.(Gln92*) - pathogenic g.41266477C>T g.41224986C>T - - CTNNB1_000044 - - - - Unknown - - - - - IMGAG
+/. 2 - c.283C>T r.(?) p.(Arg95*), p.(Arg95Ter) - pathogenic g.41266486C>T g.41224995C>T - - CTNNB1_000017 VKGL data sharing initiative Nederland PubMed: Kuechler 2015 - - CLASSIFICATION record, De novo yes - - - - VKGL-NL_Nijmegen, Dimitra Ilektra Lerou
?/. 1 - c.336_337insAA r.(?) p.(Gln113AsnfsTer21) - VUS g.41266539_41266540insAA g.41225048_41225049insAA CTNNB1(NM_001904.3):c.335_336insAA (p.(Gln113AsnfsTer21)) - CTNNB1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.338A>T r.(?) p.(Gln113Leu) - VUS g.41266541A>T g.41225050A>T CTNNB1(NM_001098209.1):c.338A>T (p.(Gln113Leu)) - CTNNB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.341T>G r.(?) p.(Phe114Cys) - VUS g.41266544T>G g.41225053T>G CTNNB1(NM_001098209.1):c.341T>G (p.(Phe114Cys)) - CTNNB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.347_370del r.(?) p.(Ala116_Arg124delinsGly) - VUS g.41266550_41266573del g.41225059_41225082del CTNNB1(NM_001098209.1):c.347_370del (p.(Ala116_Arg124delinsGly)) - CTNNB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.408del r.(?) p.(Val137*) - pathogenic g.41266611del - CTNNB1(NM_001904.3):c.408delT (p.V137*) - CTNNB1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.422_425del r.(?) p.(Asn141Ilefs*15) - pathogenic g.41266625_41266628del - CTNNB1(NM_001904.3):c.422_425delACTA (p.N141Ifs*15) - CTNNB1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.423_424insG r.(?) p.(Tyr142Valfs*4) - pathogenic g.41266626_41266627insG g.41225135_41225136insG - - CTNNB1_000078 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
?/. 1 - c.451C>T r.(?) p.(Arg151Cys) - VUS g.41266654C>T g.41225163C>T CTNNB1(NM_001904.3):c.451C>T (p.(Arg151Cys)) - CTNNB1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.464A>G r.(?) p.(Glu155Gly) - VUS g.41266667A>G g.41225176A>G CTNNB1(NM_001904.4):c.464A>G (p.E155G) - CTNNB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.496-7A>T r.(=) p.(=) - likely benign g.41266818A>T g.41225327A>T CTNNB1(NM_001904.3):c.496-7A>T - CTNNB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.521T>C r.(?) p.(Met174Thr) - VUS g.41266850T>C g.41225359T>C - - CTNNB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.527A>C r.(?) p.(His176Pro) - VUS g.41266856A>C - CTNNB1(NM_001904.3):c.527A>C (p.H176P) - CTNNB1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.557_558del r.(?) p.(His186ArgfsTer21) - pathogenic g.41266886_41266887del - CTNNB1(NM_001904.3):c.557_558delAC (p.H186Rfs*21) - CTNNB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
./. 1 - c.605T>C r.(?) p.(Met202Thr) - VUS g.41266934T>C g.41225443T>C - - CTNNB1_000007 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 - c.607C>T r.(?) p.(Gln203Ter) - pathogenic g.41266936C>T g.41225445C>T - - CTNNB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.633T>C r.(?) p.(Ala211=) - likely benign g.41266962T>C g.41225471T>C CTNNB1(NM_001904.3):c.633T>C (p.A211=) - CTNNB1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.642C>G r.(?) p.(Thr214=) - likely benign g.41266971C>G g.41225480C>G CTNNB1(NM_001904.3):c.642C>G (p.T214=) - CTNNB1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.659del r.(?) p.(Asn220ThrfsTer22) - likely pathogenic g.41266988del g.41225497del CTNNB1(NM_001904.3):c.658delA (p.(Asn220ThrfsTer22)) - CTNNB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.705dup r.(?) p.(Gly236Argfs*35) - pathogenic g.41267034dup g.41225543dup - - CTNNB1_000037 - PubMed: Tucci 2014 - - De novo yes - - - - Dimitra Ilektra Lerou
+/. 2 - c.734+1G>A r.spl p.? - pathogenic g.41267064G>A g.41225573G>A - - CTNNB1_000065 469.94kb deletion PubMed: Wang 2019 - - Germline, Germline/De novo (untested) ? - - - - Dimitra Ilektra Lerou
+/. 1 - c.734+1G>T r.spl? p.? - pathogenic g.41267064G>T g.41225573G>T - - CTNNB1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.755T>A r.(?) p.(Leu252*) - pathogenic g.41267171T>A g.41225680T>A - - CTNNB1_000079 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
+/. 1 - c.802_809del r.(?) p.(Gly268Asnfs*22) - pathogenic g.41267218_41267225del g.41225727_41225734del - - CTNNB1_000067 - PubMed: Kharbanda 2017 - - De novo yes - - - - Dimitra Ilektra Lerou
+?/. 1 - c.835del r.(?) p.(Leu279Cysfs*26) - likely pathogenic (dominant) g.41267251del g.41225760del - - CTNNB1_000095 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/., ./. 3 - c.860A>G r.(?) p.(Asn287Ser) - likely benign, VUS g.41267276A>G g.41225785A>G CTNNB1(NM_001098209.1):c.860A>G (p.(Asn287Ser)), CTNNB1(NM_001904.4):c.860A>G (p.N287S) - CTNNB1_000008 VKGL data sharing initiative Nederland Thibodeau lab (Mayo Clinic) - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Melissa DeRycke, VKGL-NL_Groningen
?/. 1 - c.884C>G r.(?) p.(Ala295Gly) ACMG VUS g.41267300C>G g.41225809C>G CTNNB1 c.884C>G p.(Ala295Gly) hom - CTNNB1_000103 homozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
?/. 1 - c.893C>G r.(?) p.(Thr298Arg) - VUS g.41267309C>G g.41225818C>G - - CTNNB1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.925C>T r.925c>u p.Gln309* - pathogenic (dominant) g.41267341C>T g.41225850C>T - - CTNNB1_000075 - PubMed: Tucci 2014 - - De novo - 1/765 cases ID - - - Dimitra Ilektra Lerou
+/. 5 7 c.998dup r.(?) p.(Tyr333*), p.(Tyr333Ter), p.Tyr333* ACMG pathogenic, pathogenic (dominant) g.41268760dup g.41227269dup 41268759_41268760delTinsTA, 998dupA, CTNNB1(NM_001904.3):c.998dupA (p.Y333*) - CTNNB1_000004 VKGL data sharing initiative Nederland, 1 more item PubMed: Kharbanda 2017, PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Prasad 2016 - rs886041281 CLASSIFICATION record, De novo, Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Rotterdam, Dimitra Ilektra Lerou
+/., ?/. 3 - c.999C>G r.(?) p.(Tyr333*), p.(Tyr333Ter) - pathogenic, VUS g.41268761C>G g.41227270C>G CTNNB1(NM_001904.3):c.999C>G (p.(Tyr333Ter)), CTNNB1(NM_001904.4):c.999C>G (p.Y333*) - CTNNB1_000025 VKGL data sharing initiative Nederland PubMed: Kharbanda 2017 - - CLASSIFICATION record, De novo yes - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, Dimitra Ilektra Lerou
+/+ 1 - c.999del r.(?) p.(Tyr333*) - pathogenic g.41268761del g.41227270del - - CTNNB1_000061 - PubMed: Sun 2019 - - Unknown - - - - - Carmel Toomes
+/. 3 - c.1041_1044del r.(?) p.(Val349Alafs*9) - pathogenic g.41268803_41268806del g.41227312_41227315del 1041_1044delATCT, 41268800_41268806delGCTATCTinsGCT - CTNNB1_000005, CTNNB1_000068 - PubMed: Kharbanda 2017, PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Lionel 2018 - - De novo yes - - - - Johan den Dunnen, Dimitra Ilektra Lerou
+/. 1 - c.1081G>C r.(?) p.(Gly361Arg) - pathogenic g.41268843G>C g.41227353G>C - - CTNNB1_000080 1 more item PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
+/. 1 - c.1081+1G>C r.spl? p.? - pathogenic g.41268844G>C g.41227353G>C CTNNB1(NM_001904.4):c.1081+1G>C - CTNNB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.1104del r.(?) p.(His369Thrfs*2) - pathogenic (dominant) g.41274854del g.41233363del 1104delT - CTNNB1_000062, CTNNB1_000063 - PubMed: Sun 2019 - - Germline/De novo (untested) - - - - - Dimitra Ilektra Lerou, Jasmine Chen
./. 1 - c.1117C>G r.(?) p.(Pro373Ala) - VUS g.41274867C>G g.41233376C>G - - CTNNB1_000009 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+?/. 1 - c.1124_1125insCCTGAACAAG r.(?) p.(Gln375HisfsTer23) - likely pathogenic g.41274874_41274875insCCTGAACAAG g.41233383_41233384insCCTGAACAAG - - CTNNB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.1140C>G r.(?) p.(Asn380Lys) - VUS g.41274890C>G - CTNNB1(NM_001904.3):c.1140C>G (p.N380K) - CTNNB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
+?/. 1 - c.1148G>A r.(?) p.(Trp383*) ACMG pathogenic g.41274898G>A - - - CTNNB1_000092 - PubMed: Mendonca 2021 - - Somatic - 0.043 - - - Vanessa Mendonça
+/. 1 - c.1163T>C r.(?) p.(Leu388Pro) - pathogenic g.41274913T>C g.41233422T>C - - CTNNB1_000081 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
+/. 1 - c.1184dup r.(?) p.(Glu396Glyfs*18) ACMG pathogenic (dominant) g.41274934dup g.41233443dup - - CTNNB1_000099 ACMG: PVS1, PS2, PM2_SUP; de novo in index and affected sister - - - De novo yes - - - - Andreas Laner
+/. 1 - c.1184_1185del r.(?) p.(Gln395Argfs*18) - pathogenic g.41274934_41274935del - CTNNB1(NM_001904.3):c.1184_1185delAG (p.Q395Rfs*18) - CTNNB1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1253_1254insGTGAC r.(?) p.(Cys419*) - pathogenic g.41275087_41275088insGTGAC g.41233596_41233597insGTGAC - - CTNNB1_000082 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
+/., +?/. 3 - c.1272_1275del r.(?), r.272_1275del p.(Ser425Thrfs*11), p.Ser425Thrfs*11 - pathogenic, pathogenic (dominant) g.41275106_41275109del g.41233615_41233618del 1272_1275delTTCT - CTNNB1_000040, CTNNB1_000083 candidate variant PubMed: de Ligt 2012, PubMed: Kuechler 2015, PubMed: Tucci 2014 - - De novo yes - - - - Johan den Dunnen, Dimitra Ilektra Lerou
?/. 1 - c.1320A>G r.(?) p.(Gln440=) - VUS g.41275154A>G g.41233663A>G CTNNB1(NM_001904.3):c.1320A>G (p.Q440=) - CTNNB1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1356_1357insA r.(?) p.(Arg453ThrfsTer4) - pathogenic g.41275190_41275191insA - - - CTNNB1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1367A>G r.(?) p.(Asp456Gly) - VUS g.41275201A>G - - - CTNNB1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 9 c.1405_1406insTG r.(?) p.(Arg469Leufs*4) ACMG pathogenic g.41275239_41275240insTG - - - CTNNB1_000097 - - - - De novo yes - - - - Wenjuan Qiu
?/. 1 - c.1417A>C r.(?) p.(Ser473Arg) - VUS g.41275251A>C g.41233760A>C - - CTNNB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4 - c.1420C>T r.(?) p.(Arg474*), p.(Arg474Ter) - pathogenic, pathogenic (dominant) g.41275254C>T g.41233763C>T - - CTNNB1_000041 VKGL data sharing initiative Nederland PubMed: Kharbanda 2017, PubMed: Kuechler 2015, PubMed: Kuechler 2015 - - CLASSIFICATION record, De novo yes - - - - VKGL-NL_Nijmegen, Dimitra Ilektra Lerou
+/. 1 - c.1434_1435insC r.(?) p.(Glu479Argfs*18) - pathogenic g.41275268_41275269insC g.41233777_41233778insC - - CTNNB1_000076 - PubMed: Panagiotou 2017 - - De novo yes 3/36 - - - Dimitra Ilektra Lerou
+/. 1 - c.1494dup r.(?) p.(His499Thrfs*31) - pathogenic (dominant) g.41275328dup g.41233837dup 1494dupA - CTNNB1_000089 - PubMed: Percy 2018 - - De novo - - - - - Johan den Dunnen
+/. 3 - c.1543C>T r.(?) p.(Arg515*), p.(Arg515Ter) ACMG pathogenic, pathogenic (dominant) g.41275648C>T g.41234157C>T CTNNB1(NM_001904.3):c.1543C>T (p.R515*) - CTNNB1_000052 ACMG: PVS1,PS2,PM2; de Ligt et al. 2012. N Engl J Med 367: 1921, 1 more item PubMed: Tucci 2014 - rs397514554 CLASSIFICATION record, De novo, Germline - - - - - Andreas Laner, VKGL-NL_VUmc, Dimitra Ilektra Lerou
+/., +?/. 5 10 c.1603C>T r.(?) p.(Arg535*) - likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.41275708C>T g.41234217C>T - - CTNNB1_000002 - PubMed: Kharbanda 2017, PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Karolak 2019, 2 more items - - De novo, Germline/De novo (untested) yes - - - - Johan den Dunnen, Dimitra Ilektra Lerou
+/. 1 - c.1612C>T r.(?) p.(Gln538*) - pathogenic g.41275717C>T g.41234226C>T - - CTNNB1_000069 - PubMed: Kharbanda 2017 - - De novo yes - - - - Dimitra Ilektra Lerou
+/. 1 - c.1633C>T r.(?) p.(Gln545*) - pathogenic g.41275738C>T - CTNNB1(NM_001904.3):c.1633C>T (p.Q545*) - CTNNB1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1671G>A r.(?) p.(Gln557=) - likely benign g.41275776G>A g.41234285G>A CTNNB1(NM_001904.4):c.1671G>A (p.Q557=) - CTNNB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1672C>T r.(?) p.(Gln558*) - pathogenic g.41275777C>T g.41234286C>T - - CTNNB1_000070 - PubMed: Li 2017 - - De novo yes - - - - Dimitra Ilektra Lerou
+/. 1 - c.1683+1G>A r.spl? p.? - pathogenic g.41275789G>A g.41234298G>A - - CTNNB1_000084 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
./. 1 - c.1685_1690delinsA r.(?) p.(Glu562Aspfs*8) - pathogenic g.41277216_41277221delAGinsA g.41235725_41235730delinsA - - CTNNB1_000003 1 more item PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.1690dup r.(?) p.(Val564GlyfsTer8) - pathogenic g.41277221dup g.41235730dup CTNNB1(NM_001904.3):c.1690dupG (p.V564Gfs*8) - CTNNB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 11 c.1690G>C r.(?) p.(Val564Leu) - VUS g.41277221G>C g.41235730G>C - - CTNNB1_000098 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1694G>T r.(?) p.(Arg565Leu) - VUS g.41277225G>T g.41235734G>T - - CTNNB1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1723G>A r.(?) p.(Gly575Arg) ACMG likely pathogenic (dominant) g.41277254G>A g.41235763G>A - - CTNNB1_000090 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
./. 1 - c.1729C>G r.(?) p.(Leu577Val) - VUS g.41277260C>G g.41235769C>G - - CTNNB1_000010 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/. 1 - c.1738_1742delinsACA r.(?) p.(Leu580Thrfs*28) - pathogenic g.41277269_41277273delinsACA g.41235778_41235782delinsACA - - CTNNB1_000066 - PubMed: Sun 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.1786A>G r.(?) p.(Ile596Val) - VUS g.41277317A>G g.41235826A>G CTNNB1(NM_001904.3):c.1786A>G (p.I596V) - CTNNB1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 1 - c.1801C>T r.(?) p.(Gln601*) - pathogenic g.41277332C>T g.41235841C>T - - CTNNB1_000071 - PubMed: Kharbanda 2017 - - De novo yes - - - - Dimitra Ilektra Lerou
+/. 1 - c.1857_1858del r.(?) p.(Cys619Ter) - pathogenic g.41277893_41277894del g.41236402_41236403del CTNNB1(NM_001904.3):c.1857_1858delTG (p.C619*) - CTNNB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1867C>T r.(?) p.(Gln623*) - pathogenic g.41277903C>T g.41236412C>T - - CTNNB1_000064 - PubMed: Sun 2019 - - Germline/De novo (untested) - - - - - Dimitra Ilektra Lerou
+/. 1 - c.1923dup r.(?) p.(Glu642Argfs*6) - pathogenic g.41277959dup g.41236468dup 1923dupA - CTNNB1_000072 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
+/., +?/. 2 12 c.1925_1926del r.(?) p.(Glu642Valfs*5) ACMG likely pathogenic, pathogenic g.41277961_41277962del g.41236470_41236471del 1925_1926delAG - CTNNB1_000006, CTNNB1_000085 - PubMed: Kuechler 2015, PubMed: Trujillano 2017 - - De novo yes - - - - Daniel Trujillano, Dimitra Ilektra Lerou
+/., ./. 3 - c.1981C>T r.(?) p.(Arg661*) ACMG likely pathogenic, pathogenic g.41278105C>T g.41236614C>T - - CTNNB1_000001 - PubMed: Kharbanda 2017, PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Trujillano 2017 - - De novo yes - - - - Johan den Dunnen, Daniel Trujillano, Dimitra Ilektra Lerou
+/. 1 - c.1981del r.(?) p.(Arg661Glufs*18) - pathogenic g.41278105del - CTNNB1(NM_001904.3):c.1981delC (p.R661Efs*18) - CTNNB1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1982del r.(?) p.(Arg661GlnfsTer18) - pathogenic g.41278106del g.41236615del CTNNB1(NM_001904.3):c.1982delG (p.R661Qfs*18) - CTNNB1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2018G>A r.(?) p.(Arg673Gln) - VUS g.41278142G>A g.41236651G>A CTNNB1(NM_001904.3):c.2018G>A (p.(Arg673Gln)) - CTNNB1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 - c.2038_2041dup r.(?) p.(Ser681*) - pathogenic g.41278162_41278165dup g.41236671_41236674dup 2038_2041dupAGCT - CTNNB1_000086 - PubMed: Kuechler 2015 - - De novo yes - - - - Dimitra Ilektra Lerou
./. 1 - c.2042C>T r.(?) p.(Ser681Phe) - VUS g.41278166C>T g.41236675C>T - - CTNNB1_000011 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
?/. 1 - c.2059C>G r.(?) p.(Pro687Ala) - VUS g.41278183C>G g.41236692C>G CTNNB1(NM_001098209.1):c.2059C>G (p.(Pro687Ala)) - CTNNB1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.2076+1G>A r.spl? p.? ACMG pathogenic g.41278201G>A - - - CTNNB1_000094 - PubMed: Mendonca 2021 - - Somatic - 0.045 - - - Vanessa Mendonça
+/+, +/. 2 14 c.2112_2116dup r.(?) p.(Pro706Glnfs*31) - pathogenic g.41279542_41279546dup g.41238051_41238055dup 2112_2116dupAGAAC - CTNNB1_000060 - PubMed: Dixon 2016 - - De novo -, yes - - - - Carmel Toomes, Dimitra Ilektra Lerou
+/., +?/+? 2 14 c.2128C>T r.(?) p.(Arg710Cys) - likely pathogenic (dominant), pathogenic g.41279558C>T g.41238067C>T - - CTNNB1_000059 - PubMed: Panagiotou 2017, PubMed: Panagiotou 2017 ClinVar-000225171 rs748653573 Germline yes 3/246118 in GnomAD - - - Carmel Toomes, Dimitra Ilektra Lerou
./. 1 - c.2129G>A r.(?) p.(Arg710His) - VUS g.41279559G>A g.41238068G>A - - CTNNB1_000012 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/., +?/+? 4 15 c.2142_2157dup r.(?) p.(His720*) - likely pathogenic (dominant), pathogenic g.41280629_41280644dup g.41239138_41239153dup 2142_2157dupTAGCTATCGTTCTTTT - CTNNB1_000058, CTNNB1_000087 - PubMed: Panagiotou 2017, PubMed: Panagiotou 2017, PubMed: Panagiotouo 2017 ClinVar-000225172 rs1057519380 Germline, Unknown yes Absent in gnomAD - - - Carmel Toomes, Dimitra Ilektra Lerou
?/. 1 - c.2231C>G r.(?) p.(Pro744Arg) - VUS g.41280718C>G g.41239227C>G CTNNB1(NM_001904.3):c.2231C>G (p.P744R) - CTNNB1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2320C>T r.(?) p.(Leu774=) - likely benign g.41280807C>T g.41239316C>T CTNNB1(NM_001904.3):c.2320C>T (p.L774=) - CTNNB1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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