Full data view for gene CTNNA3

Information The variants shown are described using the NM_013266.2 transcript reference sequence.

419 entries on 5 pages. Showing entries 1 - 100.
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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.-5-1271T>G r.(=) p.(=) Unknown - benign g.69408547A>C - CTNNA3(NM_001291133.2):c.-19T>G - CTNNA3_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5-1241G>A r.(=) p.(=) Unknown - benign g.69408517C>T - CTNNA3(NM_001291133.2):c.12G>A (p.T4=) - CTNNA3_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5-1214A>C r.(=) p.(=) Unknown - benign g.69408490T>G g.67648732T>G CTNNA3(NM_013266.4):c.-5-1214A>C - CTNNA3_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.16_17insA r.(?) p.(Pro6Hisfs*81) Unknown - VUS g.69407255_69407256insT - CTNNA3(NM_013266.4):c.16_17insA (p.P6Hfs*81) - CTNNA3_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.18A>T r.(?) p.(Pro6=) Unknown - benign g.69407254T>A g.67647496T>A CTNNA3(NM_013266.3):c.18A>T (p.P6=), CTNNA3(NM_013266.4):c.18A>T (p.P6=) - CTNNA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18A>T r.(?) p.(Pro6=) Unknown - likely benign g.69407254T>A g.67647496T>A CTNNA3(NM_013266.3):c.18A>T (p.P6=), CTNNA3(NM_013266.4):c.18A>T (p.P6=) - CTNNA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18A>T r.(?) p.(Pro6=) Unknown - likely benign g.69407254T>A g.67647496T>A CTNNA3(NM_013266.3):c.18A>T (p.P6=), CTNNA3(NM_013266.4):c.18A>T (p.P6=) - CTNNA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18A>T r.(?) p.(Pro6=) Unknown - likely benign g.69407254T>A g.67647496T>A CTNNA3(NM_013266.3):c.18A>T (p.P6=), CTNNA3(NM_013266.4):c.18A>T (p.P6=) - CTNNA3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.33C>T r.(?) p.(Ile11=) Unknown - benign g.69407239G>A g.67647481G>A CTNNA3(NM_013266.3):c.33C>T (p.I11=), CTNNA3(NM_013266.4):c.33C>T (p.I11=, p.(Ile11=)) - CTNNA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33C>T r.(?) p.(Ile11=) Unknown - likely benign g.69407239G>A g.67647481G>A CTNNA3(NM_013266.3):c.33C>T (p.I11=), CTNNA3(NM_013266.4):c.33C>T (p.I11=, p.(Ile11=)) - CTNNA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33C>T r.(?) p.(Ile11=) Unknown - likely benign g.69407239G>A g.67647481G>A CTNNA3(NM_013266.3):c.33C>T (p.I11=), CTNNA3(NM_013266.4):c.33C>T (p.I11=, p.(Ile11=)) - CTNNA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.33C>T r.(?) p.(Ile11=) Unknown - benign g.69407239G>A g.67647481G>A CTNNA3(NM_013266.3):c.33C>T (p.I11=), CTNNA3(NM_013266.4):c.33C>T (p.I11=, p.(Ile11=)) - CTNNA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.33C>T r.(?) p.(Ile11=) Unknown - likely benign g.69407239G>A - CTNNA3(NM_013266.3):c.33C>T (p.I11=), CTNNA3(NM_013266.4):c.33C>T (p.I11=, p.(Ile11=)) - CTNNA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>A r.(?) p.(Val23Met) Unknown - VUS g.69407205C>T g.67647447C>T CTNNA3(NM_013266.3):c.67G>A (p.V23M), CTNNA3(NM_013266.4):c.67G>A (p.V23M) - CTNNA3_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>A r.(?) p.(Val23Met) Unknown - VUS g.69407205C>T g.67647447C>T CTNNA3(NM_013266.3):c.67G>A (p.V23M), CTNNA3(NM_013266.4):c.67G>A (p.V23M) - CTNNA3_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67G>A r.(?) p.(Val23Met) Unknown - VUS g.69407205C>T - CTNNA3(NM_013266.3):c.67G>A (p.V23M), CTNNA3(NM_013266.4):c.67G>A (p.V23M) - CTNNA3_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.91A>G r.(?) p.(Ile31Val) Unknown - likely benign g.69407181T>C - CTNNA3(NM_013266.2):c.91A>G (p.(Ile31Val)) - CTNNA3_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99+11C>T r.(=) p.(=) Unknown - benign g.69407162G>A g.67647404G>A CTNNA3(NM_013266.4):c.99+11C>T - CTNNA3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99+11C>T r.(=) p.(=) Unknown - likely benign g.69407162G>A g.67647404G>A CTNNA3(NM_013266.4):c.99+11C>T - CTNNA3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.99+15102_99+15103insTTA r.(=) p.(=) Both (homozygous) - VUS g.69392070_69392071insTAA g.67632312_67632313insTAA - - CTNNA3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.100-15T>C r.(=) p.(=) Unknown - likely benign g.69366822A>G g.67607064A>G CTNNA3(NM_013266.3):c.100-15T>C - CTNNA3_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.106A>G r.(?) p.(Thr36Ala) Unknown - VUS g.69366801T>C - CTNNA3(NM_013266.4):c.106A>G (p.T36A) - CTNNA3_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118T>G r.(?) p.(Cys40Gly) Unknown - VUS g.69366789A>C - CTNNA3(NM_013266.4):c.118T>G (p.C40G) - CTNNA3_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.155C>T r.(?) p.(Ser52Leu) Unknown - likely benign g.69366752G>A g.67606994G>A CTNNA3(NM_013266.4):c.155C>T (p.S52L) - CTNNA3_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.155C>T r.(?) p.(Ser52Leu) Unknown - likely benign g.69366752G>A g.67606994G>A CTNNA3(NM_013266.4):c.155C>T (p.S52L) - CTNNA3_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>T r.(?) p.(Ser52Leu) Unknown - VUS g.69366752G>A - CTNNA3(NM_013266.4):c.155C>T (p.S52L) - CTNNA3_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155C>T r.(?) p.(Ser52Leu) Unknown - VUS g.69366752G>A g.67606994G>A - - CTNNA3_000159 variant not definitively linked to disease Fusco 2042, submitted - rs139105272 Germline - - - - - DNA SEQ-NG blood - CM Fam444Pat476 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
-/. - c.156G>C r.(?) p.(=) Unknown - benign g.69366751C>G - CTNNA3(NM_013266.4):c.156G>C (p.S52=) - CTNNA3_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.178G>A r.(?) p.(Ala60Thr) Unknown - VUS g.69366729C>T - CTNNA3(NM_013266.4):c.178G>A (p.A60T) - CTNNA3_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.201G>T r.(?) p.(Trp67Cys) Unknown - VUS g.69366706C>A - CTNNA3(NM_013266.4):c.201G>T (p.W67C) - CTNNA3_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>T r.(?) p.(Ala80Val) Unknown - VUS g.69366668G>A g.67606910G>A CTNNA3(NM_013266.3):c.239C>T (p.A80V), CTNNA3(NM_013266.4):c.239C>T (p.A80V) - CTNNA3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239C>T r.(?) p.(Ala80Val) Unknown - VUS g.69366668G>A - CTNNA3(NM_013266.3):c.239C>T (p.A80V), CTNNA3(NM_013266.4):c.239C>T (p.A80V) - CTNNA3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240T>C r.(?) p.(Ala80=) Unknown - likely benign g.69366667A>G g.67606909A>G CTNNA3(NM_013266.3):c.240T>C (p.A80=) - CTNNA3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.245T>G r.(?) p.(Val82Gly) Unknown - VUS g.69366662A>C g.67606904A>C - - CTNNA3_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.283C>G r.(?) p.(Arg95Gly) Unknown - VUS g.69366624G>C - CTNNA3(NM_013266.4):c.283C>G (p.R95G) - CTNNA3_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292+13A>G r.(=) p.(=) Unknown - benign g.69366602T>C g.67606844T>C CTNNA3(NM_013266.3):c.292+13A>G, CTNNA3(NM_013266.4):c.292+13A>G - CTNNA3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292+13A>G r.(=) p.(=) Unknown - benign g.69366602T>C g.67606844T>C CTNNA3(NM_013266.3):c.292+13A>G, CTNNA3(NM_013266.4):c.292+13A>G - CTNNA3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292+13A>G r.(=) p.(=) Unknown - benign g.69366602T>C g.67606844T>C CTNNA3(NM_013266.3):c.292+13A>G, CTNNA3(NM_013266.4):c.292+13A>G - CTNNA3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292+18G>T r.(=) p.(=) Unknown - benign g.69366597C>A g.67606839C>A CTNNA3(NM_013266.4):c.292+18G>T - CTNNA3_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292+19G>T r.(=) p.(=) Unknown - benign g.69366596C>A - CTNNA3(NM_013266.4):c.292+19G>T - CTNNA3_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.293-19A>T r.(=) p.(=) Unknown - benign g.69299446T>A g.67539688T>A CTNNA3(NM_013266.3):c.293-19A>T, CTNNA3(NM_013266.4):c.293-19A>T - CTNNA3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.293-19A>T r.(=) p.(=) Unknown - benign g.69299446T>A g.67539688T>A CTNNA3(NM_013266.3):c.293-19A>T, CTNNA3(NM_013266.4):c.293-19A>T - CTNNA3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.324del r.(?) p.(Phe108LeufsTer25) Unknown - VUS g.69299398del g.67539640del - - CTNNA3_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348A>C r.(?) p.(Pro116=) Unknown - benign g.69299372T>G g.67539614T>G CTNNA3(NM_013266.3):c.348A>C (p.P116=), CTNNA3(NM_013266.4):c.348A>C (p.P116=, p.(Pro116=)) - CTNNA3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348A>C r.(?) p.(Pro116=) Unknown - benign g.69299372T>G g.67539614T>G CTNNA3(NM_013266.3):c.348A>C (p.P116=), CTNNA3(NM_013266.4):c.348A>C (p.P116=, p.(Pro116=)) - CTNNA3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348A>C r.(?) p.(Pro116=) Unknown - benign g.69299372T>G g.67539614T>G CTNNA3(NM_013266.3):c.348A>C (p.P116=), CTNNA3(NM_013266.4):c.348A>C (p.P116=, p.(Pro116=)) - CTNNA3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348A>C r.(?) p.(Pro116=) Unknown - likely benign g.69299372T>G - CTNNA3(NM_013266.3):c.348A>C (p.P116=), CTNNA3(NM_013266.4):c.348A>C (p.P116=, p.(Pro116=)) - CTNNA3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.355del r.(?) p.(Glu119Argfs*14) Unknown - likely pathogenic g.69299367del g.67539609del NM_013266.3(CTNNA3):c.355del p.(Glu119Argfs*14) - CTNNA3_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-741A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
?/. - c.376C>T r.(?) p.(Arg126Cys) Unknown - VUS g.69299344G>A g.67539586G>A CTNNA3(NM_013266.3):c.376C>T (p.R126C), CTNNA3(NM_013266.4):c.376C>T (p.R126C) - CTNNA3_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.376C>T r.(?) p.(Arg126Cys) Unknown - VUS g.69299344G>A - CTNNA3(NM_013266.3):c.376C>T (p.R126C), CTNNA3(NM_013266.4):c.376C>T (p.R126C) - CTNNA3_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.387G>A r.(?) p.(Leu129=) Unknown - benign g.69299333C>T g.67539575C>T CTNNA3(NM_013266.3):c.387G>A (p.L129=), CTNNA3(NM_013266.4):c.387G>A (p.L129=) - CTNNA3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387G>A r.(?) p.(Leu129=) Unknown - likely benign g.69299333C>T g.67539575C>T CTNNA3(NM_013266.3):c.387G>A (p.L129=), CTNNA3(NM_013266.4):c.387G>A (p.L129=) - CTNNA3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387G>A r.(?) p.(Leu129=) Unknown - likely benign g.69299333C>T g.67539575C>T CTNNA3(NM_013266.3):c.387G>A (p.L129=), CTNNA3(NM_013266.4):c.387G>A (p.L129=) - CTNNA3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.393G>A r.(?) p.(Ala131=) Unknown - benign g.69299327C>T g.67539569C>T CTNNA3(NM_013266.3):c.393G>A (p.A131=), CTNNA3(NM_013266.4):c.393G>A (p.A131=) - CTNNA3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.393G>A r.(?) p.(Ala131=) Unknown - benign g.69299327C>T g.67539569C>T CTNNA3(NM_013266.3):c.393G>A (p.A131=), CTNNA3(NM_013266.4):c.393G>A (p.A131=) - CTNNA3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.393G>A r.(?) p.(Ala131=) Unknown - benign g.69299327C>T g.67539569C>T CTNNA3(NM_013266.3):c.393G>A (p.A131=), CTNNA3(NM_013266.4):c.393G>A (p.A131=) - CTNNA3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.396G>A r.(?) p.(Val132=) Unknown - benign g.69299324C>T - CTNNA3(NM_013266.4):c.396G>A (p.V132=) - CTNNA3_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.399G>A r.(?) p.(Thr133=) Unknown - benign g.69299321C>T g.67539563C>T CTNNA3(NM_013266.4):c.399G>A (p.T133=) - CTNNA3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399G>A r.(?) p.(Thr133=) Unknown - likely benign g.69299321C>T g.67539563C>T CTNNA3(NM_013266.4):c.399G>A (p.T133=) - CTNNA3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.399G>A r.(?) p.(Thr133=) Unknown - benign g.69299321C>T g.67539563C>T CTNNA3(NM_013266.4):c.399G>A (p.T133=) - CTNNA3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.429T>C r.(?) p.(Asp143=) Unknown - benign g.69299291A>G g.67539533A>G CTNNA3(NM_013266.3):c.429T>C (p.D143=), CTNNA3(NM_013266.4):c.429T>C (p.D143=) - CTNNA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429T>C r.(?) p.(Asp143=) Unknown - likely benign g.69299291A>G g.67539533A>G CTNNA3(NM_013266.3):c.429T>C (p.D143=), CTNNA3(NM_013266.4):c.429T>C (p.D143=) - CTNNA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429T>C r.(?) p.(Asp143=) Unknown - likely benign g.69299291A>G g.67539533A>G CTNNA3(NM_013266.3):c.429T>C (p.D143=), CTNNA3(NM_013266.4):c.429T>C (p.D143=) - CTNNA3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451G>T r.(?) p.(Val151Leu) Unknown - VUS g.69299269C>A g.67539511C>A CTNNA3(NM_013266.4):c.451G>T (p.V151L) - CTNNA3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451G>T r.(?) p.(Val151Leu) Unknown - VUS g.69299269C>A g.67539511C>A CTNNA3(NM_013266.4):c.451G>T (p.V151L) - CTNNA3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457G>C r.(?) p.(Ala153Pro) Unknown - VUS g.69299263C>G g.67539505C>G CTNNA3(NM_013266.3):c.457G>C (p.A153P), CTNNA3(NM_013266.4):c.457G>C (p.A153P) - CTNNA3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.457G>C r.(?) p.(Ala153Pro) Unknown - VUS g.69299263C>G g.67539505C>G - - CTNNA3_000088 - PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs147116577 Germline - - - - - DNA SEQ-NG - Dutch core cardiomyopathy panel CMH - PubMed: Verhagen 2018, Journal: Verhagen 2018 3-generation family, 1 affected (F), 2 unaffected (M, F) F - Netherlands white - - yes septal myectomy 1 Judith Verhagen
-?/. - c.457G>C r.(?) p.(Ala153Pro) Unknown - likely benign g.69299263C>G g.67539505C>G CTNNA3(NM_013266.3):c.457G>C (p.A153P), CTNNA3(NM_013266.4):c.457G>C (p.A153P) - CTNNA3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.457G>C r.(?) p.(Ala153Pro) Unknown - likely benign g.69299263C>G g.67539505C>G CTNNA3(NM_013266.3):c.457G>C (p.A153P), CTNNA3(NM_013266.4):c.457G>C (p.A153P) - CTNNA3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.457G>C r.(?) p.(Ala153Pro) Unknown - VUS g.69299263C>G - CTNNA3(NM_013266.3):c.457G>C (p.A153P), CTNNA3(NM_013266.4):c.457G>C (p.A153P) - CTNNA3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.460-13T>C r.(=) p.(=) Unknown - benign g.69281732A>G g.67521974A>G CTNNA3(NM_013266.3):c.460-13T>C, CTNNA3(NM_013266.4):c.460-13T>C - CTNNA3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.460-13T>C r.(=) p.(=) Unknown - benign g.69281732A>G g.67521974A>G CTNNA3(NM_013266.3):c.460-13T>C, CTNNA3(NM_013266.4):c.460-13T>C - CTNNA3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.478T>A r.(?) p.(Ser160Thr) Unknown - benign g.69281701A>T g.67521943A>T CTNNA3(NM_013266.3):c.478T>A (p.S160T), CTNNA3(NM_013266.4):c.478T>A (p.S160T, p.(Ser160Thr)) - CTNNA3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.478T>A r.(?) p.(Ser160Thr) Unknown - benign g.69281701A>T g.67521943A>T CTNNA3(NM_013266.3):c.478T>A (p.S160T), CTNNA3(NM_013266.4):c.478T>A (p.S160T, p.(Ser160Thr)) - CTNNA3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.478T>A r.(?) p.(Ser160Thr) Unknown - benign g.69281701A>T g.67521943A>T CTNNA3(NM_013266.3):c.478T>A (p.S160T), CTNNA3(NM_013266.4):c.478T>A (p.S160T, p.(Ser160Thr)) - CTNNA3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.478T>A r.(?) p.(Ser160Thr) Unknown - benign g.69281701A>T g.67521943A>T CTNNA3(NM_013266.3):c.478T>A (p.S160T), CTNNA3(NM_013266.4):c.478T>A (p.S160T, p.(Ser160Thr)) - CTNNA3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478T>A r.(?) p.(Ser160Thr) Unknown - likely benign g.69281701A>T - CTNNA3(NM_013266.3):c.478T>A (p.S160T), CTNNA3(NM_013266.4):c.478T>A (p.S160T, p.(Ser160Thr)) - CTNNA3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483C>T r.(?) p.(Leu161=) Unknown - benign g.69281696G>A g.67521938G>A CTNNA3(NM_013266.3):c.483C>T (p.L161=), CTNNA3(NM_013266.4):c.483C>T (p.L161=) - CTNNA3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483C>T r.(?) p.(Leu161=) Unknown - likely benign g.69281696G>A g.67521938G>A CTNNA3(NM_013266.3):c.483C>T (p.L161=), CTNNA3(NM_013266.4):c.483C>T (p.L161=) - CTNNA3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540G>A r.(?) p.(Glu180=) Unknown - likely benign g.69281639C>T g.67521881C>T CTNNA3(NM_013266.3):c.540G>A (p.E180=) - CTNNA3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.572G>A r.(?) p.(Arg191His) Unknown - VUS g.69281607C>T g.67521849C>T CTNNA3(NM_001127384.1):c.572G>A (p.(Arg191His)) - CTNNA3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578A>G r.(?) p.(Gln193Arg) Unknown - likely benign g.69281601T>C g.67521843T>C CTNNA3(NM_013266.3):c.578A>G (p.Q193R), CTNNA3(NM_013266.4):c.578A>G (p.Q193R, p.(Gln193Arg)) - CTNNA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578A>G r.(?) p.(Gln193Arg) Unknown - VUS g.69281601T>C g.67521843T>C CTNNA3(NM_013266.3):c.578A>G (p.Q193R), CTNNA3(NM_013266.4):c.578A>G (p.Q193R, p.(Gln193Arg)) - CTNNA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578A>G r.(?) p.(Gln193Arg) Unknown - VUS g.69281601T>C - CTNNA3(NM_013266.3):c.578A>G (p.Q193R), CTNNA3(NM_013266.4):c.578A>G (p.Q193R, p.(Gln193Arg)) - CTNNA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578A>G r.(?) p.(Gln193Arg) Unknown - VUS g.69281601T>C - CTNNA3(NM_013266.3):c.578A>G (p.Q193R), CTNNA3(NM_013266.4):c.578A>G (p.Q193R, p.(Gln193Arg)) - CTNNA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.579G>A r.(?) p.(Gln193=) Unknown - VUS g.69281600C>T g.67521842C>T - - CTNNA3_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579+15T>G r.(=) p.(=) Unknown - benign g.69281585A>C g.67521827A>C CTNNA3(NM_013266.3):c.579+15T>G, CTNNA3(NM_013266.4):c.579+15T>G - CTNNA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.579+15T>G r.(=) p.(=) Unknown - benign g.69281585A>C g.67521827A>C CTNNA3(NM_013266.3):c.579+15T>G, CTNNA3(NM_013266.4):c.579+15T>G - CTNNA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.580-8C>T r.(=) p.(=) Unknown - benign g.68979636G>A g.67219878G>A CTNNA3(NM_013266.3):c.580-8C>T, CTNNA3(NM_013266.4):c.580-8C>T - CTNNA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.580-8C>T r.(=) p.(=) Unknown - benign g.68979636G>A g.67219878G>A CTNNA3(NM_013266.3):c.580-8C>T, CTNNA3(NM_013266.4):c.580-8C>T - CTNNA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580-8C>T r.(=) p.(=) Unknown - likely benign g.68979636G>A g.67219878G>A CTNNA3(NM_013266.3):c.580-8C>T, CTNNA3(NM_013266.4):c.580-8C>T - CTNNA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580-8C>T r.(=) p.(=) Unknown - likely benign g.68979636G>A g.67219878G>A CTNNA3(NM_013266.3):c.580-8C>T, CTNNA3(NM_013266.4):c.580-8C>T - CTNNA3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580-5C>T r.spl? p.? Unknown - likely benign g.68979633G>A - CTNNA3(NM_013266.4):c.580-5C>T - CTNNA3_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.637_639del r.(?) p.(Glu213del) Unknown - VUS g.68979571_68979573del g.67219813_67219815del CTNNA3(NM_013266.4):c.637_639delGAG (p.E213del) - CTNNA3_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.639G>C r.(?) p.(Glu213Asp) Unknown - VUS g.68979569C>G - CTNNA3(NM_013266.4):c.639G>C (p.E213D) - CTNNA3_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>A r.(?) p.(Pro216=) Unknown - likely benign g.68979560G>T g.67219802G>T CTNNA3(NM_013266.4):c.648C>A (p.P216=) - CTNNA3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.654G>A r.(?) p.(Leu218=) Unknown - benign g.68979554C>T - CTNNA3(NM_013266.4):c.654G>A (p.L218=) - CTNNA3_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.654G>T r.(?) p.(Leu218Phe) Unknown - VUS g.68979554C>A - CTNNA3(NM_013266.4):c.654G>T (p.L218F) - CTNNA3_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.665G>T r.(?) p.(Cys222Phe) Unknown - VUS g.68979543C>A g.67219785C>A CTNNA3(NM_013266.4):c.665G>T (p.C222F) - CTNNA3_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.718A>G r.(?) p.(Thr240Ala) Unknown - benign g.68979490T>C g.67219732T>C CTNNA3(NM_013266.4):c.718A>G (p.T240A) - CTNNA3_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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