Full data view for gene CTNNB1

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

130 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.40A>G r.(?) p.(Met14Val) Parent #1 - VUS g.41266043A>G g.41224552A>G - - CTNNB1_000013 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+?/. - c.82C>T r.(?) p.(Gln28Ter) Unknown - likely pathogenic g.41266085C>T - - - CTNNB1_000104 - - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.99_100del r.(?) p.(Gly34Asnfs*15) Unknown - pathogenic g.41266102_41266103del g.41224611_41224612del 99_100delTG - CTNNB1_000077 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? whole exome sequencing ID Patient 13 Kuechler 2015 PubMed: Kuechler 2015 - M no ? (unknown) - 06y 0 - - 1 Dimitra Ilektra Lerou
+?/. - c.110C>A r.(?) p.(Ser37Tyr) Unknown - likely pathogenic g.41266113C>A g.41224622C>A CTNNB1(NM_001098209.2):c.110C>A (p.S37Y) - CTNNB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.110C>A r.(?) p.(Ser37Tyr) Unknown - pathogenic g.41266113C>A g.41224622C>A p.S37Y - CTNNB1_000015 - PubMed: Fu 2018 - - Somatic - reported as 0.31 - 0 - DNA SEQ-NG-I Lung NGS on Lung core 56 Gene Panel (Burning Rock) cancer, lung - PubMed: Fu 2018 patient included among primary lung adenocarcinomas cases; asymptomatic; history of smoking; no co-existing disease; physical examination, respiratory function and blood examinations all normal M ? China - - 0 - - 1 Rosemary Ekong
./. - c.226C>G r.(?) p.(Gln76Glu) Parent #1 - VUS g.41266229C>G g.41224738C>G - - CTNNB1_000014 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/. - c.268C>T r.(?) p.(Arg90Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.268C>T r.(?) p.(Arg90Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.274C>T r.(?) p.(Gln92*) Unknown - pathogenic g.41266477C>T g.41224986C>T - - CTNNB1_000044 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 IMGAG
+/. - c.283C>T r.(?) p.(Arg95Ter) Unknown - pathogenic g.41266486C>T g.41224995C>T - - CTNNB1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.283C>T r.(?) p.(Arg95*) Unknown - pathogenic g.41266486C>T g.41224995C>T - - CTNNB1_000017 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? whole exome sequencing ID Patient 10 Kuechler 2015 PubMed: Kuechler 2015 - F no ? (unknown) - 04y 0 - - 1 Dimitra Ilektra Lerou
?/. - c.336_337insAA r.(?) p.(Gln113AsnfsTer21) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.338A>T r.(?) p.(Gln113Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.341T>G r.(?) p.(Phe114Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.347_370del r.(?) p.(Ala116_Arg124delinsGly) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.408del r.(?) p.(Val137*) Unknown - pathogenic g.41266611del - CTNNB1(NM_001904.3):c.408delT (p.V137*) - CTNNB1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.422_425del r.(?) p.(Asn141Ilefs*15) Unknown - pathogenic g.41266625_41266628del - CTNNB1(NM_001904.3):c.422_425delACTA (p.N141Ifs*15) - CTNNB1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.423_424insG r.(?) p.(Tyr142Valfs*4) Unknown - pathogenic g.41266626_41266627insG g.41225135_41225136insG - - CTNNB1_000078 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? whole exome sequencing ID Patient 5 Kuechler 2015 PubMed: Kuechler 2015 - M no Germany white 05y07m 0 - - 1 Dimitra Ilektra Lerou
?/. - c.451C>T r.(?) p.(Arg151Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.464A>G r.(?) p.(Glu155Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.496-7A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521T>C r.(?) p.(Met174Thr) Unknown - VUS g.41266850T>C g.41225359T>C - - CTNNB1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.527A>C r.(?) p.(His176Pro) Unknown - VUS g.41266856A>C - CTNNB1(NM_001904.3):c.527A>C (p.H176P) - CTNNB1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.557_558del r.(?) p.(His186ArgfsTer21) Unknown - pathogenic g.41266886_41266887del - CTNNB1(NM_001904.3):c.557_558delAC (p.H186Rfs*21) - CTNNB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.605T>C r.(?) p.(Met202Thr) Parent #1 - VUS g.41266934T>C g.41225443T>C - - CTNNB1_000007 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+/. - c.607C>T r.(?) p.(Gln203Ter) Unknown - pathogenic g.41266936C>T g.41225445C>T - - CTNNB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.633T>C r.(?) p.(Ala211=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.642C>G r.(?) p.(Thr214=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.659del r.(?) p.(Asn220ThrfsTer22) Unknown - likely pathogenic g.41266988del g.41225497del CTNNB1(NM_001904.3):c.658delA (p.(Asn220ThrfsTer22)) - CTNNB1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.705dup r.(?) p.(Gly236Argfs*35) Unknown - pathogenic g.41267034dup g.41225543dup - - CTNNB1_000037 - PubMed: Tucci 2014 - - De novo yes - - 0 - DNA SEQ-NG ? whole exome sequencing ID Patient4 PubMed: Tucci 2014 - F ? ? (unknown) - 14y 0 no - 1 Dimitra Ilektra Lerou
+/. - c.734+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.41267064G>A g.41225573G>A - - CTNNB1_000065 469.94kb deletion PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ - whole exome sequencing, low-coverage sequencing EVR;FEVR Patient 1 (daughter) PubMed: Wang 2019 2-generation family, affected mother/daughter F ? China - 27y 0 - - 2 Dimitra Ilektra Lerou
+/. - c.734+1G>A r.spl p.? Unknown - pathogenic g.41267064G>A g.41225573G>A - - CTNNB1_000065 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - 0 - DNA SEQ ? whole exome sequencing, low-coverage sequencing EVR;FEVR Patient 2 (mother) PubMed: Wang 2019 2-generation family, affected mother/daughter F ? China - 49y 0 - - 1 Dimitra Ilektra Lerou
+/. - c.734+1G>T r.spl? p.? Unknown - pathogenic g.41267064G>T g.41225573G>T - - CTNNB1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.755T>A r.(?) p.(Leu252*) Unknown - pathogenic g.41267171T>A g.41225680T>A - - CTNNB1_000079 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? whole exome sequencing ID Patient 4 Kuechler 2015 PubMed: Kuechler 2015 - F no Viet Nam - 15y04m 0 - - 1 Dimitra Ilektra Lerou
+/. - c.802_809del r.(?) p.(Gly268Asnfs*22) Unknown - pathogenic g.41267218_41267225del g.41225727_41225734del - - CTNNB1_000067 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 8 Kharbanda 2017 PubMed: Kharbanda 2017 - F - United Kingdom (Great Britain) white 07y 0 no - 1 Dimitra Ilektra Lerou
+?/. - c.835del r.(?) p.(Leu279Cysfs*26) Unknown - likely pathogenic (dominant) g.41267251del g.41225760del - - CTNNB1_000095 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410768 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
./. - c.860A>G r.(?) p.(Asn287Ser) Parent #1 - VUS g.41267276A>G g.41225785A>G - - CTNNB1_000008 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.860A>G r.(?) p.(Asn287Ser) Unknown - likely benign 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860A>G r.(?) p.(Asn287Ser) Unknown - likely benign 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.884C>G r.(?) p.(Ala295Gly) Both (homozygous) ACMG VUS g.41267300C>G g.41225809C>G CTNNB1 c.884C>G p.(Ala295Gly) hom - CTNNB1_000103 homozygous PubMed: Lenassi 2020 - - Germline ? - - 0 - DNA SEQ-NG blood genome sequencing retinal disease 14013821 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - 1 LOVD
?/. - c.893C>G r.(?) p.(Thr298Arg) Unknown - VUS g.41267309C>G g.41225818C>G - - CTNNB1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.925C>T r.925c>u p.Gln309* Unknown - pathogenic (dominant) g.41267341C>T g.41225850C>T - - CTNNB1_000075 - PubMed: Tucci 2014 - - De novo - 1/765 cases ID - 0 - DNA SEQ-NG-I unkown - ID Patient1 PubMed: Tucci 2014 - M ? Netherlands white 04y 0 - - 1 Dimitra Ilektra Lerou
+/. 7 c.998dup r.(?) p.(Tyr333*) Unknown - pathogenic g.41268760dup g.41227269dup 41268759_41268760delTinsTA - CTNNB1_000004 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.998dup r.(?) p.Tyr333* Unknown ACMG pathogenic g.41268760dup g.41227269dup - - CTNNB1_000004 ACMG grading: PP5,PM2,PVS1; reported in Prasad 2016. J Med Genet 53: 98 Kharbanda 2017. Eur J Med Genet 60: 130 Strauss 2018. Genet Med 20: 31 - - rs886041281 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
+/. - c.998dup r.(?) p.(Tyr333Ter) Unknown - pathogenic g.41268760dup g.41227269dup CTNNB1(NM_001904.3):c.998dupA (p.Y333*) - CTNNB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.998dup r.(?) p.(Tyr333*) Unknown - pathogenic g.41268760dup g.41227269dup 998dupA - CTNNB1_000004 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 10 Kharbanda 2017 PubMed: Kharbanda 2017 - F ? (United Kingdom (Great Britain)) Morocco;Jewish-Shepardic 09y 0 no - 1 Dimitra Ilektra Lerou
+/. - c.998dup r.(?) p.(Tyr333Ter) Unknown - pathogenic (dominant) g.41268760dup g.41227269dup - - CTNNB1_000004 - PubMed: Prasad 2016 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - disease gene panel STHAG V2.87 PubMed: Prasad 2016 - F - - - - 0 - - 1 Johan den Dunnen
?/. - c.999C>G r.(?) p.(Tyr333Ter) Unknown - 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 - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.999C>G r.(?) p.(Tyr333*) Unknown - pathogenic g.41268761C>G g.41227270C>G - - CTNNB1_000025 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 6 Kharbanda 2017 PubMed: Kharbanda 2017 - F no United Kingdom (Great Britain) White British 27y 0 no - 1 Dimitra Ilektra Lerou
+/. - c.999C>G r.(?) p.(Tyr333Ter) Unknown - pathogenic g.41268761C>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.999del r.(?) p.(Tyr333*) Unknown - pathogenic g.41268761del g.41227270del - - CTNNB1_000061 - PubMed: Sun 2019 - - Unknown - - - 0 - DNA SEQ-NG-I - WES EVR7 QT2648 PubMed: Sun 2019 - F - China - - 0 - - 1 Carmel Toomes
+/. - c.1041_1044del r.(?) p.(Val349Alafs*9) Unknown - pathogenic g.41268803_41268806del g.41227312_41227315del 41268800_41268806delGCTATCTinsGCT - CTNNB1_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.1041_1044del r.(?) p.(Val349Alafs*9) Unknown - pathogenic g.41268803_41268806del g.41227312_41227315del 1041_1044delATCT - CTNNB1_000005 - PubMed: Lionel 2018 - - De novo - - - 0 - DNA SEQ - WGS ? 28771251-Pat43 PubMed: Lionel 2018 - M - Canada - - 0 - - 1 Johan den Dunnen
+/. - c.1041_1044del r.(?) p.(Val349Alafs*9) Unknown - pathogenic g.41268803_41268806del g.41227312_41227315del - - CTNNB1_000068 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 5 Kharbanda 2017 PubMed: Kharbanda 2017 - F - United Kingdom (Great Britain) Egyptian 11y 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1081G>C r.(?) p.(Gly361Arg) Unknown - pathogenic g.41268843G>C g.41227353G>C - - CTNNB1_000080 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? whole exome sequencing ID Patient 14 Kuechler 2015 PubMed: Kuechler 2015 - M no Netherlands - - 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1081+1G>C r.spl? p.? Unknown - pathogenic g.41268844G>C g.41227353G>C CTNNB1(NM_001904.4):c.1081+1G>C - CTNNB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1104del r.(?) p.(His369Thrfs*2) Unknown - pathogenic (dominant) g.41274854del g.41233363del 1104delT - CTNNB1_000063 - - - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - WES EVR7 QT409 PubMed: Sun 2019 - M - China - - 0 - - 1 Jasmine Chen
+/. - c.1104del r.(?) p.(His369Thrfs*2) Unknown - pathogenic (dominant) g.41274854del g.41233363del 1104delT - CTNNB1_000062 - PubMed: Sun 2019 - - Germline/De novo (untested) - - - 0 - DNA SEQ-NG-I - whole genome sequencing EVR7 QT1615 PubMed: Sun 2019 - F no China - - 0 - - 1 Dimitra Ilektra Lerou
./. - c.1117C>G r.(?) p.(Pro373Ala) Parent #1 - VUS g.41274867C>G g.41233376C>G - - CTNNB1_000009 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
+?/. - c.1124_1125insCCTGAACAAG r.(?) p.(Gln375HisfsTer23) Unknown - likely pathogenic g.41274874_41274875insCCTGAACAAG g.41233383_41233384insCCTGAACAAG - - CTNNB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1140C>G r.(?) p.(Asn380Lys) Unknown - VUS g.41274890C>G - CTNNB1(NM_001904.3):c.1140C>G (p.N380K) - CTNNB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1140C>G r.(?) p.(Asn380Lys) Unknown - VUS g.41274890C>G - CTNNB1(NM_001904.3):c.1140C>G (p.N380K) - CTNNB1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1148G>A r.(?) p.(Trp383*) Unknown ACMG pathogenic g.41274898G>A - - - CTNNB1_000092 - PubMed: Mendonca 2021 - - Somatic - 0.043 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 64 PubMed: Mendonca 2021 - M - Brazil - - 0 - - 1 Vanessa Mendonça
+/. - c.1163T>C r.(?) p.(Leu388Pro) Unknown - pathogenic g.41274913T>C g.41233422T>C - - CTNNB1_000081 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? whole exome sequencing ID Patient 11 Kuechler 2015 PubMed: Kuechler 2015 - M no ? (unknown) - 08y 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1184dup r.(?) p.(Glu396Glyfs*18) Unknown ACMG pathogenic (dominant) g.41274934dup g.41233443dup - - CTNNB1_000099 ACMG: PVS1, PS2, PM2_SUP; de novo in index and affected sister - - - De novo yes - - 0 - DNA SEQ-NG-I - - NEDSDV;MRD19 182575 - - F no Germany - - 0 - - 1 Andreas Laner
+/. - c.1184_1185del r.(?) p.(Gln395Argfs*18) Unknown - pathogenic g.41274934_41274935del - CTNNB1(NM_001904.3):c.1184_1185delAG (p.Q395Rfs*18) - CTNNB1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1253_1254insGTGAC r.(?) p.(Cys419*) Unknown - pathogenic g.41275087_41275088insGTGAC g.41233596_41233597insGTGAC - - CTNNB1_000082 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? whole exome sequencing ID Patient 8 Kuechler 2015 PubMed: Kuechler 2015 - M no Italy;Philippines Italian and Filipino decent 01y03m 0 - - 1 Dimitra Ilektra Lerou
+?/. - c.1272_1275del r.(?) p.(Ser425Thrfs*11) Unknown - pathogenic g.41275106_41275109del g.41233615_41233618del - - CTNNB1_000040 candidate variant PubMed: de Ligt 2012 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ID 23033978-Trio70 PubMed: de Ligt 2012 - F - Netherlands - - 0 - - 1 Johan den Dunnen
+/. - c.1272_1275del r.272_1275del p.Ser425Thrfs*11 Unknown - pathogenic (dominant) g.41275106_41275109del g.41233615_41233618del 1272_1275delTTCT - CTNNB1_000040 - PubMed: Tucci 2014 - - De novo - - - 0 - DNA SEQ-NG-I unkown - ID Patient2 PubMed: Tucci 2014 - F ? Netherlands white 29y 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1272_1275del r.(?) p.(Ser425Thrfs*11) Unknown - pathogenic g.41275106_41275109del g.41233615_41233618del 1272_1275delTTCT - CTNNB1_000083 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? - ID Patient 15 Kuechler 2015 PubMed: Kuechler 2015 - F no ? (unknown) - 03y03m 0 - - 1 Dimitra Ilektra Lerou
?/. - c.1320A>G r.(?) p.(Gln440=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1356_1357insA r.(?) p.(Arg453ThrfsTer4) Unknown - pathogenic g.41275190_41275191insA - - - CTNNB1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1367A>G r.(?) p.(Asp456Gly) Unknown - VUS g.41275201A>G - - - CTNNB1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1405_1406insTG r.(?) p.(Arg469Leufs*4) Unknown ACMG pathogenic g.41275239_41275240insTG - - - CTNNB1_000097 - - - - De novo yes - - - - DNA SEQ-NG blood WGS ? iw095 - - F no China Chinese - 0 - - 1 Wenjuan Qiu
?/. - c.1417A>C r.(?) p.(Ser473Arg) Unknown - VUS g.41275251A>C g.41233760A>C - - CTNNB1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1420C>T r.(?) p.(Arg474Ter) Unknown - pathogenic g.41275254C>T g.41233763C>T - - CTNNB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1420C>T r.(?) p.(Arg474*) Unknown - pathogenic g.41275254C>T g.41233763C>T - - CTNNB1_000041 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 7 Kharbanda 2017 PubMed: Kharbanda 2017 - F no United Kingdom (Great Britain) white 13y 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1420C>T r.(?) p.(Arg474*) Unknown - pathogenic (dominant) g.41275254C>T g.41233763C>T - - CTNNB1_000041 - PubMed: Kuechler 2015 - - De novo - - - 0 - DNA SEQ-NG-I - - ID Patient 2 Kuechler 2015 PubMed: Kuechler 2015 - F no Bangladesh - 05y 0 yes - 1 Dimitra Ilektra Lerou
+/. - c.1420C>T r.(?) p.(Arg474*) Unknown - pathogenic g.41275254C>T g.41233763C>T - - CTNNB1_000041 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I - whole exome sequencing ID Patient 9 Kuechler 2015 PubMed: Kuechler 2015 - M no ? (unknown) - 02y 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1434_1435insC r.(?) p.(Glu479Argfs*18) Unknown - pathogenic g.41275268_41275269insC g.41233777_41233778insC - - CTNNB1_000076 - PubMed: Panagiotou 2017 - - De novo yes 3/36 - 0 - DNA SEQ-NG-I peripheral blood whole exome sequencing EVR;FEVR Patient 1 Panagiotou 2017 PubMed: Panagiotoy 2017 2-generation family, affected son with unaffected parents M no China - 00y01m 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1494dup r.(?) p.(His499Thrfs*31) Unknown - pathogenic (dominant) g.41275328dup g.41233837dup 1494dupA - CTNNB1_000089 - PubMed: Percy 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? PatA PubMed: Percy 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - 0 - - 1 Johan den Dunnen
+/. - c.1543C>T r.(?) p.(Arg515*) Unknown ACMG pathogenic g.41275648C>T g.41234157C>T - - CTNNB1_000052 ACMG: PVS1,PS2,PM2; de Ligt et al. 2012. N Engl J Med 367: 1921 - - rs397514554 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
+/. - c.1543C>T r.(?) p.(Arg515*) Unknown - pathogenic (dominant) g.41275648C>T g.41234157C>T - - CTNNB1_000052 - PubMed: Tucci 2014 - - De novo - - - 0 - DNA SEQ - wes ID Patient3 PubMed: Tucci 2014 - F - - - - 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1543C>T r.(?) p.(Arg515Ter) Unknown - pathogenic g.41275648C>T - CTNNB1(NM_001904.3):c.1543C>T (p.R515*) - CTNNB1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1603C>T r.(?) p.(Arg535*) Unknown - pathogenic g.41275708C>T g.41234217C>T - - CTNNB1_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.1603C>T r.(?) p.(Arg535*) Unknown - pathogenic (dominant) g.41275708C>T g.41234217C>T - - CTNNB1_000002 - PubMed: Karolak 2019 - - De novo - - - 0 - DNA SEQ lung - EVR7 Patient 1 PubMed: Karolak 2019 - M no United States white 00y04m 0 - - 1 Dimitra Ilektra Lerou
+/. - c.1603C>T r.(?) p.(Arg535*) Unknown - pathogenic g.41275708C>T g.41234217C>T - - CTNNB1_000002 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 2 Kharbanda 2017 PubMed: Kharbanda 2017 - M ? United Kingdom (Great Britain) Scottish white 03y03m 0 no - 1 Dimitra Ilektra Lerou
+/. - c.1603C>T r.(?) p.(Arg535*) Unknown - pathogenic g.41275708C>T g.41234217C>T - - CTNNB1_000002 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 4 Kharbanda 2017 PubMed: Kharbanda 2017 - M ? United Kingdom (Great Britain) White British 14y 0 no - 1 Dimitra Ilektra Lerou
+?/. - c.1603C>T r.(?) p.(Arg535*) Unknown - likely pathogenic (dominant) g.41275708C>T g.41234217C>T - - CTNNB1_000002 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411300 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.1612C>T r.(?) p.(Gln538*) Unknown - pathogenic g.41275717C>T g.41234226C>T - - CTNNB1_000069 - PubMed: Kharbanda 2017 - - De novo yes - - 0 - DNA SEQ-NG peripheral blood - ID Patient 9 Kharbanda 2017 PubMed: Kharbanda 2017 - F no United Kingdom (Great Britain) white 07y 0 no - 1 Dimitra Ilektra Lerou
+/. - c.1633C>T r.(?) p.(Gln545*) Unknown - pathogenic g.41275738C>T - CTNNB1(NM_001904.3):c.1633C>T (p.Q545*) - CTNNB1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1671G>A r.(?) p.(Gln557=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1672C>T r.(?) p.(Gln558*) Unknown - pathogenic g.41275777C>T g.41234286C>T - - CTNNB1_000070 - PubMed: Li 2017 - - De novo yes - - 0 - DNA SEQ blood whole exome sequencing EVR;FEVR Patient 1 Li 2017 PubMed: Li 2017 - M no China - 01y03m 0 yes - 1 Dimitra Ilektra Lerou
+/. - c.1683+1G>A r.spl? p.? Unknown - pathogenic g.41275789G>A g.41234298G>A - - CTNNB1_000084 - PubMed: Kuechler 2015 - - De novo yes - - 0 - DNA SEQ-NG-I ? - ID Patient 3 Kuechler 2015 PubMed: Kuechler 2015 - F no Turkey - 02y05m 0 - - 1 Dimitra Ilektra Lerou
./. - c.1685_1690delinsA r.(?) p.(Glu562Aspfs*8) Unknown - pathogenic g.41277216_41277221delAGinsA g.41235725_41235730delinsA - - CTNNB1_000003 Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message. PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.1690dup r.(?) p.(Val564GlyfsTer8) Unknown - pathogenic g.41277221dup g.41235730dup CTNNB1(NM_001904.3):c.1690dupG (p.V564Gfs*8) - CTNNB1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1690G>C r.(?) p.(Val564Leu) Unknown - VUS g.41277221G>C g.41235730G>C - - CTNNB1_000098 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2264 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. - c.1694G>T r.(?) p.(Arg565Leu) Unknown - VUS g.41277225G>T g.41235734G>T - - CTNNB1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1723G>A r.(?) p.(Gly575Arg) Unknown ACMG likely pathogenic (dominant) g.41277254G>A g.41235763G>A - - CTNNB1_000090 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat27 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
./. - c.1729C>G r.(?) p.(Leu577Val) Parent #1 - VUS g.41277260C>G g.41235769C>G - - CTNNB1_000010 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
Legend   How to query   « First ‹ Prev     1 2     Next › Last »