All variants in the NOTCH1 gene

Information The variants shown are described using the NM_017617.3 transcript reference sequence.

815 entries on 9 pages. Showing entries 1 - 100.
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Effect     

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_34_ c.-1*1627{2} r.? p.? - pathogenic [NC_000007.13:g.(pter_43360)_(2067625-?)]delinsg.(?_129172353)_(141020389_qter)inv - - 46,XX,der(7)t(7;9)(p22.3;q33.3) NOTCH1_000437 unbalanced translocation, gain 11.8Mb hg19 chr9:129172353–141020389, loss 2Mb chr7:43360–2067625; balanced translocation in father PubMed: Overwater 2018 - - Germline - 1/128 cases FA - - - Johan den Dunnen
-?/. - c.17C>T r.(?) p.(Ala6Val) - likely benign g.139440222G>A g.136545770G>A NOTCH1(NM_017617.5):c.17C>T (p.A6V) - NOTCH1_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.18G>T r.(?) p.(Ala6=) - likely benign g.139440221C>A g.136545769C>A NOTCH1(NM_017617.5):c.18G>T (p.A6=) - NOTCH1_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.25del r.(?) p.(Leu9Serfs*24) - VUS g.139440214del - NOTCH1(NM_017617.5):c.25del (p.(Leu9SerfsTer24)) - NOTCH1_000492 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.36dup r.(?) p.(Leu13Alafs*17) - pathogenic g.139440203dup - NOTCH1(NM_017617.5):c.36dupG (p.L13Afs*17) - NOTCH1_000469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.62-9C>G r.(=) p.(=) - likely benign g.139438563G>C g.136544111G>C NOTCH1(NM_017617.5):c.62-9C>G - NOTCH1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.64C>T r.(?) p.(Pro22Ser) - benign g.139438552G>A g.136544100G>A NOTCH1(NM_017617.3):c.64C>T (p.(Pro22Ser)), NOTCH1(NM_017617.5):c.64C>T (p.P22S) - NOTCH1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.64C>T r.(?) p.(Pro22Ser) - likely benign g.139438552G>A g.136544100G>A NOTCH1(NM_017617.3):c.64C>T (p.(Pro22Ser)), NOTCH1(NM_017617.5):c.64C>T (p.P22S) - NOTCH1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.64C>T r.(?) p.(Pro22Ser) - likely benign g.139438552G>A - NOTCH1(NM_017617.3):c.64C>T (p.(Pro22Ser)), NOTCH1(NM_017617.5):c.64C>T (p.P22S) - NOTCH1_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.78G>A r.(?) p.(Gln26=) - likely benign g.139438538C>T - NOTCH1(NM_017617.5):c.78G>A (p.Q26=) - NOTCH1_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.79C>A r.(?) p.(Pro27Thr) - likely benign g.139438537G>T g.136544085G>T NOTCH1(NM_017617.5):c.79C>A (p.P27T) - NOTCH1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.94C>T r.(?) p.(Leu32=) - likely benign g.139438522G>A - NOTCH1(NM_017617.5):c.94C>T (p.L32=) - NOTCH1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.140+3G>C r.spl? p.? - pathogenic g.139438473C>G g.136544021C>G NOTCH1(NM_017617.5):c.140+3G>C - NOTCH1_000344 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2i c.140+3G>C r.[62_140del,=] p.[Gly21AlafsTer53,=] - pathogenic g.139438473C>G g.136544021C>G - - NOTCH1_000344 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - Tjakko van Ham
-?/. - c.141-293G>T r.(=) p.(=) - likely benign g.139418724C>A - NOTCH1(NM_017617.5):c.141-293G>T - NOTCH1_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.147C>T r.(?) p.(Gly49=) - likely benign g.139418425G>A - NOTCH1(NM_017617.5):c.147C>T (p.G49=) - NOTCH1_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.156C>T r.(?) p.(Phe52=) - likely benign g.139418416G>A g.136523964G>A NOTCH1(NM_017617.5):c.156C>T (p.F52=) - NOTCH1_000343 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.165G>A r.(?) p.(Pro55=) - likely benign g.139418407C>T g.136523955C>T NOTCH1(NM_017617.5):c.165G>A (p.P55=) - NOTCH1_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.165G>A r.(?) p.(Pro55=) - likely benign g.139418407C>T g.136523955C>T NOTCH1(NM_017617.5):c.165G>A (p.P55=) - NOTCH1_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.178C>T r.(?) p.(Pro60Ser) - VUS g.139418394G>A g.136523942G>A NOTCH1(NM_017617.5):c.178C>T (p.P60S) - NOTCH1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.186G>C r.(?) p.(Pro62=) - benign g.139418386C>G g.136523934C>G NOTCH1(NM_017617.5):c.186G>C (p.P62=) - NOTCH1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.211G>C r.(?) p.(Ala71Pro) - VUS g.139418361C>G g.136523909C>G - - NOTCH1_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.214G>A r.(?) p.(Gly72Arg) - VUS g.139418358C>T - NOTCH1(NM_017617.5):c.214G>A (p.G72R) - NOTCH1_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.230T>G r.(?) p.(Val77Gly) - likely benign g.139418342A>C g.136523890A>C - - NOTCH1_000341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.253T>C r.(?) p.(Tyr85His) - VUS g.139418319A>G g.136523867A>G NOTCH1(NM_017617.5):c.253T>C (p.Y85H) - NOTCH1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.263G>A r.(?) p.(Ser88Asn) - likely benign g.139418309C>T g.136523857C>T NOTCH1(NM_017617.5):c.263G>A (p.S88N) - NOTCH1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.304C>A r.(?) p.(Leu102Met) - likely benign g.139418268G>T g.136523816G>T NOTCH1(NM_017617.5):c.304C>A (p.L102M) - NOTCH1_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.311A>G r.(?) p.(Asn104Ser) - VUS g.139418261T>C g.136523809T>C NOTCH1(NM_017617.5):c.311A>G (p.N104S) - NOTCH1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.312T>C r.(?) p.(Asn104=) - benign g.139418260A>G g.136523808A>G NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=) - NOTCH1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.312T>C r.(?) p.(Asn104=) - likely benign g.139418260A>G g.136523808A>G NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=) - NOTCH1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.312T>C r.(?) p.(Asn104=) - benign g.139418260A>G g.136523808A>G NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=) - NOTCH1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.312T>C r.(?) p.(Asn104=) - benign g.139418260A>G g.136523808A>G NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=) - NOTCH1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.312T>C r.(?) p.(Asn104=) - benign g.139418260A>G g.136523808A>G NOTCH1(NM_017617.5):c.311_312delATinsAC (p.N104=), NOTCH1(NM_017617.5):c.312T>C (p.N104=) - NOTCH1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.313G>A r.(?) p.(Ala105Thr) - VUS g.139418259C>T - NOTCH1(NM_017617.5):c.313G>A (p.(Ala105Thr)) - NOTCH1_000491 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.368C>T r.(?) p.(Thr123Met) - likely benign g.139418204G>A g.136523752G>A NOTCH1(NM_017617.3):c.368C>T (p.(Thr123Met)), NOTCH1(NM_017617.5):c.368C>T (p.T123M) - NOTCH1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.368C>T r.(?) p.(Thr123Met) - likely benign g.139418204G>A g.136523752G>A NOTCH1(NM_017617.3):c.368C>T (p.(Thr123Met)), NOTCH1(NM_017617.5):c.368C>T (p.T123M) - NOTCH1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.368C>T r.(?) p.(Thr123Met) - likely benign g.139418204G>A g.136523752G>A NOTCH1(NM_017617.3):c.368C>T (p.(Thr123Met)), NOTCH1(NM_017617.5):c.368C>T (p.T123M) - NOTCH1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.383G>A r.(?) p.(Arg128His) - likely benign g.139418189C>T g.136523737C>T NOTCH1(NM_017617.3):c.383G>A (p.(Arg128His)) - NOTCH1_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.390G>A r.(?) p.(Pro130=) - likely benign g.139418182C>T g.136523730C>T NOTCH1(NM_017617.5):c.390G>A (p.P130=) - NOTCH1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.393C>T r.(?) p.(Pro131=) - likely benign g.139418179G>A g.136523727G>A NOTCH1(NM_017617.5):c.393C>T (p.P131=) - NOTCH1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.403+40G>C r.(=) p.(=) - likely benign g.139418129C>G g.136523677C>G - - NOTCH1_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.432C>T r.(?) p.(Cys144=) - likely benign g.139417612G>A g.136523160G>A NOTCH1(NM_017617.3):c.432C>T (p.(Cys144=)), NOTCH1(NM_017617.5):c.432C>T (p.C144=) - NOTCH1_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.432C>T r.(?) p.(Cys144=) - likely benign g.139417612G>A g.136523160G>A NOTCH1(NM_017617.3):c.432C>T (p.(Cys144=)), NOTCH1(NM_017617.5):c.432C>T (p.C144=) - NOTCH1_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.453C>T r.(?) p.(Asn151=) - likely benign g.139417591G>A - NOTCH1(NM_017617.5):c.453C>T (p.N151=) - NOTCH1_000399 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.505A>G r.(?) p.(Ser169Gly) - likely benign g.139417539T>C g.136523087T>C NOTCH1(NM_017617.3):c.505A>G (p.(Ser169Gly)) - NOTCH1_000337 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.518C>T r.(?) p.(Pro173Leu) - VUS g.139417526G>A - NOTCH1(NM_017617.3):c.518C>T (p.(Pro173Leu)) - NOTCH1_000510 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.568C>T r.(?) p.(Arg190Cys) - likely pathogenic g.139417476G>A g.136523024G>A - - NOTCH1_000336 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.574G>A r.(?) p.(Gly192Arg) - VUS g.139417470C>T g.136523018C>T NOTCH1(NM_017617.5):c.574G>A (p.G192R) - NOTCH1_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.597C>T r.(?) p.(Val199=) - likely benign g.139417447G>A - NOTCH1(NM_017617.5):c.597C>T (p.V199=) - NOTCH1_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.621C>T r.(?) p.(Arg207=) - likely benign g.139417423G>A g.136522971G>A NOTCH1(NM_017617.5):c.621C>T (p.R207=) - NOTCH1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.621C>T r.(?) p.(Arg207=) - likely benign g.139417423G>A g.136522971G>A NOTCH1(NM_017617.5):c.621C>T (p.R207=) - NOTCH1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.631A>G r.(?) p.(Thr211Ala) - VUS g.139417413T>C g.136522961T>C NOTCH1(NM_017617.5):c.631A>G (p.T211A) - NOTCH1_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.631A>G r.(?) p.(Thr211Ala) - VUS g.139417413T>C g.136522961T>C - - NOTCH1_000335 - PubMed: Overwater 2018 - - Germline - - - - - Johan den Dunnen
./. - c.646G>A r.(?) p.(Glu216Lys) - likely pathogenic g.139417398C>T g.136522946C>T NM_017617.3(NOTCH1):c.646G>A p.(Glu216Lys) - NOTCH1_000002 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - Marjolijn JL Ligtenberg
-?/. - c.663C>T r.(?) p.(Pro221=) - likely benign g.139417381G>A g.136522929G>A NOTCH1(NM_017617.5):c.663C>T (p.P221=) - NOTCH1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.707C>T r.(?) p.(Thr236Met) - VUS g.139417337G>A - NOTCH1(NM_017617.3):c.707C>T (p.(Thr236Met)) - NOTCH1_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.711C>T r.(?) p.(Gly237=) - benign g.139417333G>A g.136522881G>A NOTCH1(NM_017617.5):c.711C>T (p.G237=) - NOTCH1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.724G>A r.(?) p.(Glu242Lys) - VUS g.139417320C>T - - - NOTCH1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.724G>C r.(?) p.(Glu242Gln) - VUS g.139417320C>G - NOTCH1(NM_017617.5):c.724G>C (p.(Glu242Gln)) - NOTCH1_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.742+19C>T r.(=) p.(=) - likely benign g.139417283G>A g.136522831G>A NOTCH1(NM_017617.5):c.742+19C>T - NOTCH1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.742+40C>T r.(=) p.(=) - likely benign g.139417262G>A g.136522810G>A - - NOTCH1_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.742+139C>T r.(=) p.(=) - likely benign g.139417163G>A - NOTCH1(NM_017617.5):c.742+139C>T - NOTCH1_000490 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.750C>A r.(?) p.(Thr250=) - likely benign g.139414010G>T g.136519558G>T NOTCH1(NM_017617.5):c.750C>A (p.T250=) - NOTCH1_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.750C>T r.(?) p.(Thr250=) - likely benign g.139414010G>A - NOTCH1(NM_017617.5):c.750C>T (p.T250=) - NOTCH1_000447 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.775G>A r.(?) p.(Asp259Asn) - VUS g.139413985C>T - - - NOTCH1_000436 - - - rs763187824 CLASSIFICATION record - - - - - MobiDetails
?/. - c.823G>A r.(?) p.(Gly275Ser) - VUS g.139413937C>T - NOTCH1(NM_017617.3):c.823G>A (p.(Gly275Ser)) - NOTCH1_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.839A>G r.(?) p.(Asn280Ser) - VUS g.139413921T>C - NOTCH1(NM_017617.5):c.839A>G (p.N280S) - NOTCH1_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.839A>G r.(?) p.(Asn280Ser) - likely benign g.139413921T>C - NOTCH1(NM_017617.5):c.839A>G (p.N280S) - NOTCH1_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.852G>A r.(?) p.(Pro284=) - benign g.139413908C>T g.136519456C>T NOTCH1(NM_017617.5):c.852G>A (p.P284=) - NOTCH1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.852G>A r.(?) p.(Pro284=) - benign g.139413908C>T g.136519456C>T NOTCH1(NM_017617.5):c.852G>A (p.P284=) - NOTCH1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.852G>A r.(?) p.(Pro284=) - benign g.139413908C>T g.136519456C>T NOTCH1(NM_017617.5):c.852G>A (p.P284=) - NOTCH1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.852G>A r.(?) p.(Pro284=) - benign g.139413908C>T g.136519456C>T NOTCH1(NM_017617.5):c.852G>A (p.P284=) - NOTCH1_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.865+2C>A r.spl? p.? - pathogenic g.139413893G>T - NOTCH1(NM_017617.5):c.865+2C>A - NOTCH1_000465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.865+18C>T r.(=) p.(=) - likely benign g.139413877G>A g.136519425G>A NOTCH1(NM_017617.5):c.865+18C>T - NOTCH1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.865+18C>T r.(=) p.(=) - likely benign g.139413877G>A - NOTCH1(NM_017617.5):c.865+18C>T - NOTCH1_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.866-157G>A r.(=) p.(=) - likely benign g.139413433C>T - NOTCH1(NM_017617.5):c.866-157G>A - NOTCH1_000422 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.873C>T r.(?) p.(Tyr291=) - benign g.139413269G>A g.136518817G>A - - NOTCH1_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.879C>T r.(?) p.(Thr293=) - likely benign g.139413263G>A g.136518811G>A NOTCH1(NM_017617.5):c.879C>T (p.T293=) - NOTCH1_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.879C>T r.(?) p.(Thr293=) - likely benign g.139413263G>A - NOTCH1(NM_017617.5):c.879C>T (p.T293=) - NOTCH1_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.971T>A r.(?) p.(Val324Asp) - likely pathogenic g.139413171A>T g.136518719A>T - - NOTCH1_000331 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1007T>C r.(?) p.(Ile336Thr) - VUS g.139413135A>G g.136518683A>G NOTCH1(NM_017617.3):c.1007T>C (p.(Ile336Thr)) - NOTCH1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1016G>A r.(?) p.(Cys339Tyr) - VUS g.139413126C>T - NOTCH1(NM_017617.5):c.1016G>A (p.C339Y) - NOTCH1_000446 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1017_1018del r.(?) p.(Ala340GlnfsTer12) - pathogenic g.139413126_139413127del g.136518674_136518675del NOTCH1(NM_017617.5):c.1017_1018delTG (p.A340Qfs*12) - NOTCH1_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1039G>A r.(?) p.(Gly347Ser) - VUS g.139413103C>T g.136518651C>T NOTCH1(NM_017617.3):c.1039G>A (p.(Gly347Ser)) - NOTCH1_000330 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1045A>C r.(?) p.(Thr349Pro) - VUS g.139413097T>G g.136518645T>G NOTCH1(NM_017617.5):c.1045A>C (p.T349P) - NOTCH1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.1100-140G>A r.(=) p.(=) - benign g.139412884C>T g.136518432C>T - - NOTCH1_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.1100-16G>C r.(=) p.(=) - benign g.139412760C>G g.136518308C>G NOTCH1(NM_017617.5):c.1100-16G>C - NOTCH1_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1100-14C>T r.(=) p.(=) - likely benign g.139412758G>A - NOTCH1(NM_017617.5):c.1100-14C>T - NOTCH1_000398 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1119C>T r.(?) p.(Asn373=) - likely benign g.139412725G>A g.136518273G>A NOTCH1(NM_017617.5):c.1119C>T (p.N373=) - NOTCH1_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1146C>T r.(?) p.(Asn382=) - likely benign g.139412698G>A g.136518246G>A NOTCH1(NM_017617.5):c.1146C>T (p.N382=) - NOTCH1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1147G>A r.(?) p.(Glu383Lys) - likely benign g.139412697C>T g.136518245C>T NOTCH1(NM_017617.5):c.1147G>A (p.E383K) - NOTCH1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1205C>T r.(?) p.(Ser402Leu) - VUS g.139412639G>A g.136518187G>A NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L) - NOTCH1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1205C>T r.(?) p.(Ser402Leu) - likely benign g.139412639G>A g.136518187G>A NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L) - NOTCH1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1205C>T r.(?) p.(Ser402Leu) - VUS g.139412639G>A - NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L) - NOTCH1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1205C>T r.(?) p.(Ser402Leu) - VUS g.139412639G>A - NOTCH1(NM_017617.3):c.1205C>T (p.(Ser402Leu)), NOTCH1(NM_017617.5):c.1205C>T (p.S402L) - NOTCH1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1214C>T r.(?) p.(Thr405Met) - likely benign g.139412630G>A g.136518178G>A NOTCH1(NM_017617.5):c.1214C>T (p.T405M) - NOTCH1_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1245G>A r.(?) p.(Glu415=) - likely benign g.139412599C>T g.136518147C>T NOTCH1(NM_017617.5):c.1245G>A (p.E415=) - NOTCH1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1245G>A r.(?) p.(Glu415=) - likely benign g.139412599C>T g.136518147C>T NOTCH1(NM_017617.5):c.1245G>A (p.E415=) - NOTCH1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1245G>A r.(?) p.(Glu415=) - likely benign g.139412599C>T g.136518147C>T NOTCH1(NM_017617.5):c.1245G>A (p.E415=) - NOTCH1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1256-6C>T r.(=) p.(=) - likely benign g.139412395G>A - NOTCH1(NM_017617.5):c.1256-6C>T - NOTCH1_000532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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