Unique variants in the CTNNA3 gene

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

207 entries on 3 pages. Showing entries 1 - 100.
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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.-5-1271T>G r.(=) p.(=) - benign g.69408547A>C - CTNNA3(NM_001291133.2):c.-19T>G - CTNNA3_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-5-1214A>C r.(=) p.(=) - benign g.69408490T>G g.67648732T>G CTNNA3(NM_013266.3):c.-5-1214A>C - CTNNA3_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 4 - c.18A>T r.(?) p.(Pro6=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 4 - c.33C>T r.(?) p.(Ile11=) - benign, 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=) - CTNNA3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 3 - c.67G>A r.(?) p.(Val23Met) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., -?/. 2 - c.99+11C>T r.(=) p.(=) - benign, likely benign g.69407162G>A g.67647404G>A CTNNA3(NM_013266.3):c.99+11C>T, CTNNA3(NM_013266.4):c.99+11C>T - CTNNA3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.99+15102_99+15103insTTA r.(=) p.(=) - VUS g.69392070_69392071insTAA g.67632312_67632313insTAA - - CTNNA3_000001 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.100-15T>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.118T>G r.(?) p.(Cys40Gly) - VUS g.69366789A>C - CTNNA3(NM_013266.3):c.118T>G (p.C40G) - CTNNA3_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.155C>T r.(?) p.(Ser52Leu) - likely benign, VUS g.69366752G>A g.67606994G>A CTNNA3(NM_013266.3):c.155C>T (p.S52L), CTNNA3(NM_013266.4):c.155C>T (p.S52L) - CTNNA3_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.239C>T r.(?) p.(Ala80Val) - VUS g.69366668G>A g.67606910G>A CTNNA3(NM_013266.3):c.239C>T (p.A80V) - CTNNA3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.240T>C r.(?) p.(Ala80=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.245T>G r.(?) p.(Val82Gly) - VUS g.69366662A>C g.67606904A>C - - CTNNA3_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.283C>G r.(?) p.(Arg95Gly) - VUS g.69366624G>C - CTNNA3(NM_013266.4):c.283C>G (p.R95G) - CTNNA3_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 - c.292+13A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.292+18G>T r.(=) p.(=) - benign g.69366597C>A g.67606839C>A CTNNA3(NM_013266.3):c.292+18G>T - CTNNA3_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.293-19A>T r.(=) p.(=) - benign g.69299446T>A g.67539688T>A CTNNA3(NM_013266.3):c.293-19A>T - CTNNA3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.324del r.(?) p.(Phe108LeufsTer25) - VUS g.69299398del g.67539640del - - CTNNA3_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.348A>C r.(?) p.(Pro116=) - benign g.69299372T>G g.67539614T>G CTNNA3(NM_013266.3):c.348A>C (p.P116=) - CTNNA3_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
./. 1 - c.355del r.(?) p.(Glu119Argfs*14) - 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 - - - - - Marjolijn JL Ligtenberg
?/. 1 - c.376C>T r.(?) p.(Arg126Cys) - VUS g.69299344G>A g.67539586G>A CTNNA3(NM_013266.3):c.376C>T (p.R126C) - CTNNA3_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.387G>A r.(?) p.(Leu129=) - benign, likely benign g.69299333C>T g.67539575C>T CTNNA3(NM_013266.3):c.387G>A (p.L129=) - CTNNA3_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 3 - c.393G>A r.(?) p.(Ala131=) - benign g.69299327C>T g.67539569C>T CTNNA3(NM_013266.3):c.393G>A (p.A131=) - CTNNA3_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 3 - c.399G>A r.(?) p.(Thr133=) - benign, likely benign g.69299321C>T g.67539563C>T CTNNA3(NM_013266.3):c.399G>A (p.T133=), CTNNA3(NM_013266.4):c.399G>A (p.T133=) - CTNNA3_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 3 - c.429T>C r.(?) p.(Asp143=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 2 - c.451G>T r.(?) p.(Val151Leu) - VUS g.69299269C>A g.67539511C>A CTNNA3(NM_013266.3):c.451G>T (p.V151L), CTNNA3(NM_013266.4):c.451G>T (p.V151L) - CTNNA3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/., ?/. 5 4 c.457G>C r.(?) p.(Ala153Pro) - likely benign, 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 PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs147116577 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Judith Verhagen
-/. 2 - c.460-13T>C r.(=) p.(=) - benign g.69281732A>G g.67521974A>G CTNNA3(NM_013266.3):c.460-13T>C - CTNNA3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 4 - c.478T>A r.(?) p.(Ser160Thr) - 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) - CTNNA3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 2 - c.483C>T r.(?) p.(Leu161=) - benign, likely benign g.69281696G>A g.67521938G>A CTNNA3(NM_013266.3):c.483C>T (p.L161=) - CTNNA3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.540G>A r.(?) p.(Glu180=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.572G>A r.(?) p.(Arg191His) - 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 - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.578A>G r.(?) p.(Gln193Arg) - likely benign, VUS g.69281601T>C g.67521843T>C CTNNA3(NM_013266.3):c.578A>G (p.Q193R) - CTNNA3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.579G>A r.(?) p.(Gln193=) - VUS g.69281600C>T g.67521842C>T - - CTNNA3_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.579+15T>G r.(=) p.(=) - benign g.69281585A>C g.67521827A>C CTNNA3(NM_013266.3):c.579+15T>G - CTNNA3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 4 - c.580-8C>T r.(=) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.637_639del r.(?) p.(Glu213del) - VUS g.68979571_68979573del g.67219813_67219815del CTNNA3(NM_013266.3):c.637_639delGAG (p.E213del) - CTNNA3_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.648C>A r.(?) p.(Pro216=) - 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 - - - - - VKGL-NL_Utrecht
-/. 1 - c.654G>A r.(?) p.(Leu218=) - benign g.68979554C>T - CTNNA3(NM_013266.3):c.654G>A (p.L218=) - CTNNA3_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.665G>T r.(?) p.(Cys222Phe) - 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 - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.718A>G r.(?) p.(Thr240Ala) - benign, likely benign g.68979490T>C g.67219732T>C CTNNA3(NM_013266.3):c.718A>G (p.T240A) - CTNNA3_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.767C>T r.(?) p.(Ser256Leu) - VUS g.68979441G>A - CTNNA3(NM_013266.3):c.767C>T (p.S256L) - CTNNA3_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.779A>G r.(?) p.(Gln260Arg) - benign g.68979429T>C g.67219671T>C CTNNA3(NM_013266.3):c.779A>G (p.Q260R) - CTNNA3_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 4 - c.796C>T r.(?) p.(Pro266Ser) - likely benign, VUS g.68979412G>A g.67219654G>A CTNNA3(NM_013266.3):c.796C>T (p.P266S), CTNNA3(NM_013266.4):c.796C>T (p.P266S) - CTNNA3_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.822A>C r.(?) p.(Gly274=) - benign g.68979386T>G - CTNNA3(NM_013266.3):c.822A>C (p.G274=) - CTNNA3_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.832G>A r.(?) p.(Asp278Asn) - VUS g.68979376C>T g.67219618C>T CTNNA3(NM_013266.3):c.832G>A (p.D278N), CTNNA3(NM_013266.4):c.832G>A (p.D278N) - CTNNA3_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 2 - c.843+17A>G r.(=) p.(=) - benign g.68979348T>C g.67219590T>C CTNNA3(NM_013266.3):c.843+17A>G - CTNNA3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 4 - c.844-15G>A r.(=) p.(=) - benign, likely benign g.68940293C>T g.67180535C>T CTNNA3(NM_013266.3):c.844-15G>A, CTNNA3(NM_013266.4):c.844-15G>A - CTNNA3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.864A>C r.(?) p.(Pro288=) - likely benign g.68940258T>G g.67180500T>G CTNNA3(NM_013266.3):c.864A>C (p.P288=) - CTNNA3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.889C>T r.(?) p.(Arg297Ter) - VUS g.68940233G>A g.67180475G>A CTNNA3(NM_013266.3):c.889C>T (p.R297*), CTNNA3(NM_013266.4):c.889C>T (p.R297*) - CTNNA3_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 2 - c.892C>G r.(?) p.(Pro298Ala) - VUS g.68940230G>C g.67180472G>C CTNNA3(NM_013266.3):c.892C>G (p.P298A) - CTNNA3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.917C>T r.(?) p.(Ala306Val) - VUS g.68940205G>A g.67180447G>A CTNNA3(NM_013266.3):c.917C>T (p.A306V) - CTNNA3_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.919A>T r.(?) p.(Ile307Phe) - VUS g.68940203T>A g.67180445T>A CTNNA3(NM_013266.3):c.919A>T (p.I307F) - CTNNA3_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.935C>T r.(?) p.(Ala312Val) ACMG VUS g.68940187G>A g.67180429G>A - - CTNNA3_000179 ACMG: PM2: class 3, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline ? - - - - Andreas Laner, VKGL-NL_Nijmegen
?/. 1 - c.944C>T r.(?) p.(Ala315Val) - VUS g.68940178G>A g.67180420G>A - - CTNNA3_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.945G>A r.(?) p.(Ala315=) - benign g.68940177C>T g.67180419C>T CTNNA3(NM_013266.3):c.945G>A (p.A315=) - CTNNA3_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.945_949dup r.(?) p.(Ser317TrpfsTer33) - VUS g.68940173_68940177dup g.67180415_67180419dup CTNNA3(NM_013266.3):c.945_949dupGGATT (p.S317Wfs*33) - CTNNA3_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.955T>C r.(?) p.(Cys319Arg) - VUS g.68940167A>G g.67180409A>G - - CTNNA3_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.959C>T r.(?) p.(Thr320Met) - VUS g.68940163G>A g.67180405G>A CTNNA3(NM_013266.4):c.959C>T (p.T320M) - CTNNA3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.961A>G r.(?) p.(Arg321Gly) - VUS g.68940161T>C g.67180403T>C CTNNA3(NM_013266.3):c.961A>G (p.R321G) - CTNNA3_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.987C>T r.(?) p.(Ile329=) - likely benign g.68940135G>A g.67180377G>A CTNNA3(NM_013266.3):c.987C>T (p.I329=) - CTNNA3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.999C>T r.(?) p.(Asn333=) - likely benign g.68940123G>A - CTNNA3(NM_013266.4):c.999C>T (p.N333=) - CTNNA3_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.1006C>A r.(?) p.(Arg336Ser) - VUS g.68940116G>T g.67180358G>T CTNNA3(NM_013266.3):c.1006C>A (p.R336S), CTNNA3(NM_013266.4):c.1006C>A (p.R336S) - CTNNA3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.1007G>A r.(?) p.(Arg336His) - VUS g.68940115C>T - CTNNA3(NM_013266.4):c.1007G>A (p.R336H) - CTNNA3_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1007G>T r.(?) p.(Arg336Leu) - VUS g.68940115C>A - CTNNA3(NM_013266.3):c.1007G>T (p.R336L) - CTNNA3_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 4 - c.1047C>T r.(?) p.(Asn349=) - benign g.68940075G>A g.67180317G>A CTNNA3(NM_013266.3):c.1047C>T (p.N349=), CTNNA3(NM_013266.4):c.1047C>T (p.N349=) - CTNNA3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.1048-152876A>G r.(=) p.(=) - VUS g.68688158T>C g.66928400T>C CTNNA3(NM_001127384.1):c.1048-152876A>G (p.(=)) - CTNNA3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1048-152692dup r.(=) p.(=) - benign g.68687974dup g.66928216dup CTNNA3(NM_013266.4):c.1048-152692dupT - CTNNA3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1048-152317G>C r.(=) p.(=) - VUS g.68687599C>G g.66927841C>G LRRTM3(NM_178011.5):c.925C>G (p.L309V) - CTNNA3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1048-152315C>T r.(=) p.(=) - benign g.68687597G>A g.66927839G>A - - CTNNA3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1048-19C>A r.(=) p.(=) - likely benign g.68535301G>T - - - CTNNA3_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1048-19C>T r.(=) p.(=) - benign g.68535301G>A g.66775543G>A CTNNA3(NM_013266.3):c.1048-19C>T - CTNNA3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.(?_1048-5)_(1527_?)del r.s? p.? ACMG benign g.(?_68280379)_(68535287-?)del - - - CTNNA3_000205 - PubMed: Singer 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.1048-4G>T r.spl? p.? - likely benign g.68535286C>A g.66775528C>A CTNNA3(NM_013266.4):c.1048-4G>T - CTNNA3_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1064G>A r.(?) p.(Arg355Lys) - VUS g.68535266C>T g.66775508C>T CTNNA3(NM_013266.4):c.1064G>A (p.R355K) - CTNNA3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1092C>T r.(?) p.(Asp364=) - benign g.68535238G>A g.66775480G>A CTNNA3(NM_013266.3):c.1092C>T (p.D364=) - CTNNA3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1120C>T r.(?) p.(Arg374Cys) - VUS g.68535210G>A g.66775452G>A CTNNA3(NM_013266.3):c.1120C>T (p.R374C) - CTNNA3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1128+3G>A r.spl? p.? - likely benign g.68535199C>T g.66775441C>T CTNNA3(NM_013266.4):c.1128+3G>A - CTNNA3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.1132C>T r.(?) p.(Arg378Cys) - likely benign, VUS g.68526171G>A g.66766413G>A CTNNA3(NM_013266.3):c.1132C>T (p.R378C) - CTNNA3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 6 9 c.1133G>A r.(?) p.(Arg378His) - benign, likely benign g.68526170C>T g.66766412C>T CTNNA3(NM_013266.3):c.1133G>A (p.R378H), CTNNA3(NM_013266.4):c.1133G>A (p.R378H) - CTNNA3_000085 9 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs143682596 CLASSIFICATION record, Germline - 9/2792 individuals - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC, Judith Verhagen, Mohammed Faruq
-/. 1 - c.1143T>C r.(?) p.(Ile381=) - benign g.68526160A>G g.66766402A>G CTNNA3(NM_013266.3):c.1143T>C (p.I381=) - CTNNA3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1175C>T r.(?) p.(Thr392Met) - VUS g.68526128G>A g.66766370G>A CTNNA3(NM_013266.4):c.1175C>T (p.T392M) - CTNNA3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1176G>A r.(?) p.(Thr392=) - likely benign g.68526127C>T g.66766369C>T - - CTNNA3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.1195C>A r.(?) p.(Leu399Ile) - benign, likely benign g.68526108G>T g.66766350G>T CTNNA3(NM_013266.3):c.1195C>A (p.L399I), CTNNA3(NM_013266.4):c.1195C>A (p.L399I) - CTNNA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1215T>C r.(?) p.(Asn405=) - likely benign g.68526088A>G g.66766330A>G - - CTNNA3_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 - c.1231A>G r.(?) p.(Ile411Val) - likely benign, VUS g.68526072T>C g.66766314T>C CTNNA3(NM_013266.3):c.1231A>G (p.I411V), CTNNA3(NM_013266.4):c.1231A>G (p.I411V) - CTNNA3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1242T>C r.(?) p.(Tyr414=) - likely benign g.68526061A>G - CTNNA3(NM_013266.4):c.1242T>C (p.Y414=) - CTNNA3_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1243G>C r.(?) p.(Ala415Pro) - VUS g.68526060C>G g.66766302C>G - - CTNNA3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1247C>T r.(?) p.(Ala416Val) - VUS g.68526056G>A g.66766298G>A CTNNA3(NM_013266.3):c.1247C>T (p.A416V) - CTNNA3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1248G>A r.(?) p.(Ala416=) - likely benign g.68526055C>T g.66766297C>T CTNNA3(NM_013266.4):c.1248G>A (p.A416=) - CTNNA3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 3 - c.1251A>G r.(?) p.(Ile417Met) - VUS g.68526052T>C g.66766294T>C CTNNA3(NM_013266.3):c.1251A>G (p.I417M), CTNNA3(NM_013266.4):c.1251A>G (p.I417M) - CTNNA3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.1281+4A>G r.spl? p.? - benign g.68526018T>C g.66766260T>C CTNNA3(NM_013266.3):c.1281+4A>G - CTNNA3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1281+10C>G r.(=) p.(=) - benign g.68526012G>C - CTNNA3(NM_013266.3):c.1281+10C>G - CTNNA3_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1282-9G>A r.(=) p.(=) - likely benign g.68381551C>T g.66621793C>T - - CTNNA3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1294G>C r.(?) p.(Ala432Pro) - VUS g.68381530C>G g.66621772C>G CTNNA3(NM_013266.3):c.1294G>C (p.A432P) - CTNNA3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.1303A>G r.(?) p.(Met435Val) - likely benign, VUS g.68381521T>C g.66621763T>C CTNNA3(NM_013266.3):c.1303A>G (p.M435V), CTNNA3(NM_013266.4):c.1303A>G (p.M435V) - CTNNA3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - c.1351C>T r.(?) p.(His451Tyr) - VUS g.68381473G>A g.66621715G>A CTNNA3(NM_013266.4):c.1351C>T (p.H451Y) - CTNNA3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.1368del r.(?) p.(Pro457HisfsTer41) - VUS g.68381456del g.66621698del CTNNA3(NM_013266.3):c.1368delT (p.P457Hfs*41) - CTNNA3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1374+10C>T r.(=) p.(=) - benign g.68381440G>A g.66621682G>A CTNNA3(NM_013266.3):c.1374+10C>T - CTNNA3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1422G>A r.(?) p.(Ala474=) - likely benign g.68280484C>T g.66520726C>T CTNNA3(NM_013266.3):c.1422G>A (p.A474=) - CTNNA3_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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