All variants in the NOTCH2 gene

Information The variants shown are described using the NM_024408.3 transcript reference sequence.

230 entries on 3 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     
?/. - c.? r.(?) p.(Arg285His) - VUS g.? - - - NPHS2_000000 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
-/. - c.-26_-18del r.(?) p.(=) - benign g.120612040_120612048del g.120069426_120069434del NOTCH2(NM_024408.3):c.-26_-18delCGGCGGAGG - NOTCH2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-21_-20insCGGAGGAGG r.(?) p.(=) - benign g.120612042_120612043insTCCTCCGCC g.120069428_120069429insTCCTCCGCC NOTCH2(NM_024408.3):c.-21_-20insCGGAGGAGG - NOTCH2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-21_-20insCGGCGGAGG r.(?) p.(=) - benign g.120612042_120612043insTCCGCCGCC g.120069428_120069429insTCCGCCGCC NOTCH2(NM_024408.3):c.-21_-20insCGGCGGAGG - NOTCH2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.-14A>C r.(?) p.(=) - benign g.120612034T>G g.120069420T>G NOTCH2(NM_024408.3):c.-14A>C - NOTCH2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.7G>T r.(?) p.(Ala3Ser) - likely benign g.120612014C>A g.120069400C>A NOTCH2(NM_001200001.1):c.7G>T (p.(Ala3Ser)) - NOTCH2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.8C>T r.(?) p.(Ala3Val) - likely benign g.120612013G>A g.120069399G>A NOTCH2(NM_001200001.1):c.8C>T (p.(Ala3Val)) - NOTCH2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.14G>T r.(?) p.(Arg5Leu) - VUS g.120612007C>A g.120069393C>A NOTCH2(NM_001200001.1):c.14G>T (p.(Arg5Leu)) - NOTCH2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.15C>G r.(?) p.(Arg5=) - likely benign g.120612006G>C g.120069392G>C NOTCH2(NM_001200001.1):c.15C>G (p.(=)), NOTCH2(NM_024408.3):c.15C>G (p.R5=) - NOTCH2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.15C>G r.(?) p.(Arg5=) - likely benign g.120612006G>C g.120069392G>C NOTCH2(NM_001200001.1):c.15C>G (p.(=)), NOTCH2(NM_024408.3):c.15C>G (p.R5=) - NOTCH2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.15C>T r.(?) p.(Arg5=) - benign g.120612006G>A g.120069392G>A NOTCH2(NM_024408.3):c.15C>T (p.R5=), NOTCH2(NM_024408.4):c.15C>T (p.R5=) - NOTCH2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.15C>T r.(?) p.(Arg5=) - benign g.120612006G>A g.120069392G>A NOTCH2(NM_024408.3):c.15C>T (p.R5=), NOTCH2(NM_024408.4):c.15C>T (p.R5=) - NOTCH2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.15C>T r.(?) p.(Arg5=) - benign g.120612006G>A g.120069392G>A NOTCH2(NM_024408.3):c.15C>T (p.R5=), NOTCH2(NM_024408.4):c.15C>T (p.R5=) - NOTCH2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.17_18del r.(?) p.(Pro6ArgfsTer27) - VUS g.120612005_120612006del g.120069391_120069392del NOTCH2(NM_024408.3):c.17_18delCC (p.P6Rfs*27) - NOTCH2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.57C>G r.(?) p.(Cys19Trp) - benign g.120611964G>C g.120069350G>C NOTCH2(NM_024408.3):c.57C>G (p.C19W), NOTCH2(NM_024408.4):c.57C>G (p.C19W) - NOTCH2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.57C>G r.(?) p.(Cys19Trp) - benign g.120611964G>C g.120069350G>C NOTCH2(NM_024408.3):c.57C>G (p.C19W), NOTCH2(NM_024408.4):c.57C>G (p.C19W) - NOTCH2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.61G>A r.(?) p.(Ala21Thr) - benign g.120611960C>T g.120069346C>T NOTCH2(NM_024408.3):c.61G>A (p.A21T) - NOTCH2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.61G>A r.(?) p.(Ala21Thr) - benign g.120611960C>T g.120069346C>T NOTCH2(NM_024408.3):c.61G>A (p.A21T) - NOTCH2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.73+72G>A r.(=) p.(=) - benign g.120611876C>T g.120069262C>T NOTCH2(NM_024408.4):c.73+72G>A - NOTCH2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.73+118C>T r.(=) p.(=) - benign g.120611830G>A g.120069216G>A NOTCH2(NM_024408.4):c.73+118C>T - NOTCH2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.73+190C>T r.(=) p.(=) - benign g.120611758G>A g.120069144G>A NOTCH2(NM_024408.4):c.73+190C>T - NOTCH2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.73+233T>C r.(=) p.(=) - benign g.120611715A>G g.120069101A>G NOTCH2(NM_024408.4):c.73+233T>C - NOTCH2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.73+394A>G r.(=) p.(=) - benign g.120611554T>C g.120068940T>C NOTCH2(NM_024408.4):c.73+394A>G - NOTCH2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.73+450C>G r.(=) p.(=) - benign g.120611498G>C g.120068884G>C NOTCH2(NM_024408.4):c.73+450C>G - NOTCH2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.73+452G>T r.(=) p.(=) - benign g.120611496C>A g.120068882C>A NOTCH2(NM_024408.4):c.73+452G>T - NOTCH2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.112G>A r.(?) p.(Glu38Lys) - benign g.120572572C>T g.120029949C>T NOTCH2(NM_024408.4):c.112G>A (p.E38K) - NOTCH2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.112G>A r.(?) p.(Glu38Lys) - benign g.120572572C>T g.120029949C>T NOTCH2(NM_024408.4):c.112G>A (p.E38K) - NOTCH2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.137A>G r.(?) p.(Asn46Ser) - VUS g.120572547T>C g.120029924T>C NOTCH2(NM_024408.3):c.137A>G (p.N46S), NOTCH2(NM_024408.4):c.137A>G (p.N46S) - NOTCH2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.137A>G r.(?) p.(Asn46Ser) - benign g.120572547T>C g.120029924T>C NOTCH2(NM_024408.3):c.137A>G (p.N46S), NOTCH2(NM_024408.4):c.137A>G (p.N46S) - NOTCH2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.137A>G r.(?) p.(Asn46Ser) - benign g.120572547T>C g.120029924T>C NOTCH2(NM_024408.3):c.137A>G (p.N46S), NOTCH2(NM_024408.4):c.137A>G (p.N46S) - NOTCH2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.194G>A r.(?) p.(Arg65Gln) - likely benign g.120548173C>T - NOTCH2(NM_001200001.1):c.194G>A (p.(Arg65Gln)) - NOTCH2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.215G>A r.(?) p.(Arg72His) - VUS g.120548152C>T g.120005529C>T NOTCH2(NM_001200001.1):c.215G>A (p.(Arg72His)) - NOTCH2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.267G>A r.(?) p.(Thr89=) - likely benign g.120548100C>T g.120005477C>T NOTCH2(NM_024408.3):c.267G>A (p.T89=) - NOTCH2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.272G>T r.(?) p.(Arg91Leu) - benign g.120548095C>A g.120005472C>A NOTCH2(NM_001200001.1):c.272G>T (p.(Arg91Leu)), NOTCH2(NM_024408.4):c.272G>T (p.R91L) - NOTCH2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.272G>T r.(?) p.(Arg91Leu) - likely benign g.120548095C>A g.120005472C>A NOTCH2(NM_001200001.1):c.272G>T (p.(Arg91Leu)), NOTCH2(NM_024408.4):c.272G>T (p.R91L) - NOTCH2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.273A>G r.(?) p.(Arg91=) - likely benign g.120548094T>C - NOTCH2(NM_024408.4):c.273A>G (p.R91=) - NOTCH2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.312A>G r.(?) p.(Ser104=) - likely benign g.120548055T>C g.120005432T>C NOTCH2(NM_024408.3):c.312A>G (p.S104=), NOTCH2(NM_024408.4):c.312A>G (p.S104=) - NOTCH2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.312A>G r.(?) p.(Ser104=) - likely benign g.120548055T>C g.120005432T>C NOTCH2(NM_024408.3):c.312A>G (p.S104=), NOTCH2(NM_024408.4):c.312A>G (p.S104=) - NOTCH2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.312A>G r.(?) p.(Ser104=) - likely benign g.120548055T>C - NOTCH2(NM_024408.3):c.312A>G (p.S104=), NOTCH2(NM_024408.4):c.312A>G (p.S104=) - NOTCH2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.342C>T r.(?) p.(Pro114=) - benign g.120548025G>A g.120005402G>A NOTCH2(NM_024408.3):c.342C>T (p.P114=) - NOTCH2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.354C>T r.(?) p.(Gly118=) - likely benign g.120548013G>A - NOTCH2(NM_024408.3):c.354C>T (p.G118=) - NOTCH2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.415+26G>C r.(=) p.(=) - likely benign g.120547926C>G g.120005303C>G NOTCH2(NM_024408.3):c.415+26G>C - NOTCH2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.423G>A r.(?) p.(Glu141=) - likely benign g.120539948C>T g.119997325C>T NOTCH2(NM_024408.3):c.423G>A (p.E141=) - NOTCH2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.435G>A r.(?) p.(Thr145=) - likely benign g.120539936C>T g.119997313C>T NOTCH2(NM_024408.3):c.435G>A (p.T145=), NOTCH2(NM_024408.4):c.435G>A (p.T145=) - NOTCH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.435G>A r.(?) p.(Thr145=) - likely benign g.120539936C>T g.119997313C>T NOTCH2(NM_024408.3):c.435G>A (p.T145=), NOTCH2(NM_024408.4):c.435G>A (p.T145=) - NOTCH2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.435G>C r.(?) p.(Thr145=) - likely benign g.120539936C>G g.119997313C>G NOTCH2(NM_024408.4):c.435G>C (p.T145=) - NOTCH2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.456C>T r.(?) p.(Pro152=) - benign g.120539915G>A g.119997292G>A NOTCH2(NM_024408.3):c.456C>T (p.P152=), NOTCH2(NM_024408.4):c.456C>T (p.P152=) - NOTCH2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.456C>T r.(?) p.(Pro152=) - likely benign g.120539915G>A g.119997292G>A NOTCH2(NM_024408.3):c.456C>T (p.P152=), NOTCH2(NM_024408.4):c.456C>T (p.P152=) - NOTCH2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.456C>T r.(?) p.(Pro152=) - benign g.120539915G>A g.119997292G>A NOTCH2(NM_024408.3):c.456C>T (p.P152=), NOTCH2(NM_024408.4):c.456C>T (p.P152=) - NOTCH2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.487G>A r.(?) p.(Ala163Thr) - likely benign g.120539884C>T g.119997261C>T NOTCH2(NM_024408.3):c.487G>A (p.A163T) - NOTCH2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.532A>G r.(?) p.(Lys178Glu) - VUS g.120539839T>C g.119997216T>C - - NOTCH2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.534A>G r.(?) p.(Lys178=) - likely benign g.120539837T>C g.119997214T>C NOTCH2(NM_024408.4):c.534A>G (p.K178=) - NOTCH2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.545A>T r.(?) p.(Asp182Val) - VUS g.120539826T>A g.119997203T>A - - NOTCH2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.751+3A>G r.spl? p.? - VUS g.120539617T>C g.119996994T>C NOTCH2(NM_024408.4):c.751+3A>G - NOTCH2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.751+289G>A r.(=) p.(=) - benign g.120539331C>T g.119996708C>T NOTCH2(NM_024408.4):c.751+289G>A - NOTCH2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.786T>C r.(?) p.(Asp262=) - likely benign g.120529671A>G g.119987048A>G NOTCH2(NM_024408.3):c.786T>C (p.D262=) - NOTCH2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.854G>A r.(?) p.(Arg285His) - VUS g.120529603C>T g.119986980C>T - - NOTCH2_000160 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
?/. - c.863C>A r.(?) p.(Pro288Gln) - VUS g.120529594G>T - NOTCH2(NM_024408.4):c.863C>A (p.P288Q) - NOTCH2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1063G>A r.(?) p.(Asp355Asn) - VUS g.120512179C>T g.119969556C>T - - NOTCH2_000159 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1108+14G>A r.(=) p.(=) - likely benign g.120512120C>T - NOTCH2(NM_024408.4):c.1108+14G>A - NOTCH2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1108+30A>G r.(=) p.(=) - benign g.120512104T>C g.119969481T>C NOTCH2(NM_024408.3):c.1108+30A>G - NOTCH2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1183C>T r.(?) p.(Leu395=) - likely benign g.120510781G>A g.119968158G>A - - NOTCH2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1188del r.(?) p.(Asn396LysfsTer39) - VUS g.120510776del g.119968153del NOTCH2(NM_001200001.1):c.1188delT (p.(Asn396LysfsTer39)) - NOTCH2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1235G>T r.(?) p.(Cys412Phe) - VUS g.120510729C>A g.119968106C>A - - NOTCH2_000071 - - - - Germline/De novo (untested) - - - 0 - Gunnar Schmidt
-/. - c.1265-128del r.(=) p.(=) - benign g.120510372del g.119967749del NOTCH2(NM_024408.3):c.1265-128delT - NOTCH2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1274A>G r.(?) p.(Asn425Ser) - VUS g.120510235T>C g.119967612T>C NOTCH2(NM_024408.4):c.1274A>G (p.N425S) - NOTCH2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1315G>A r.(?) p.(Ala439Thr) - likely benign g.120510194C>T g.119967571C>T NOTCH2(NM_024408.3):c.1315G>A (p.A439T) - NOTCH2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 8 c.1331G>A r.(?) p.(Cys444Tyr) - pathogenic g.120510178C>T g.119967555C>T - - NOTCH2_000004 - PubMed: McDaniell 2006, OMIM:var0002 - - Unknown - - - 0 - LOVD
+/? 8 c.1331G>A r.(?) p.(Cys444Tyr) - pathogenic g.120510178C>T g.119967555C>T - - NOTCH2_000004 - PubMed: McDaniell 2006, OMIM:var0002 - - Germline - - - 0 - LOVD
+/? 8 c.1331G>A r.(?) p.(Cys444Tyr) - pathogenic g.120510178C>T g.119967555C>T - - NOTCH2_000004 - PubMed: McDaniell 2006, OMIM:var0002 - - Germline - - - 0 - LOVD
-?/. - c.1356T>C r.(?) p.(Arg452=) - likely benign g.120510153A>G g.119967530A>G - - NOTCH2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1396C>A r.(?) p.(Gln466Lys) - VUS g.120510113G>T g.119967490G>T NOTCH2(NM_024408.3):c.1396C>A (p.Q466K) - NOTCH2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1567+8C>T r.(=) p.(=) - likely benign g.120508991G>A - NOTCH2(NM_024408.3):c.1567+8C>T - NOTCH2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1568-17C>T r.(=) p.(=) - benign g.120508206G>A g.119965583G>A NOTCH2(NM_024408.3):c.1568-17C>T, NOTCH2(NM_024408.4):c.1568-17C>T - NOTCH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1568-17C>T r.(=) p.(=) - benign g.120508206G>A g.119965583G>A NOTCH2(NM_024408.3):c.1568-17C>T, NOTCH2(NM_024408.4):c.1568-17C>T - NOTCH2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1575T>C r.(?) p.(Thr525=) - likely benign g.120508182A>G g.119965559A>G NOTCH2(NM_024408.3):c.1575T>C (p.T525=) - NOTCH2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1804G>A r.(?) p.(Ala602Thr) - likely benign g.120506308C>T g.119963685C>T NOTCH2(NM_001200001.1):c.1804G>A (p.(Ala602Thr)) - NOTCH2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1804G>A r.(?) p.(Ala602Thr) - likely benign g.120506308C>T g.119963685C>T NOTCH2(NM_001200001.1):c.1804G>A (p.(Ala602Thr)) - NOTCH2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1915+2T>G r.spl? p.? - likely pathogenic g.120506195A>C g.119963572A>C NOTCH2(NM_024408.4):c.1915+2T>G - NOTCH2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1918G>T r.(?) p.(Val640Phe) - VUS g.120502123C>A g.119959500C>A NOTCH2(NM_001200001.1):c.1918G>T (p.(Val640Phe)) - NOTCH2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.2026+6G>T r.(=) p.(=) - likely benign g.120502009C>A g.119959386C>A NOTCH2(NM_001200001.1):c.2026+6G>T (p.(=)), NOTCH2(NM_024408.3):c.2026+6G>T - NOTCH2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2026+6G>T r.(=) p.(=) - likely benign g.120502009C>A g.119959386C>A NOTCH2(NM_001200001.1):c.2026+6G>T (p.(=)), NOTCH2(NM_024408.3):c.2026+6G>T - NOTCH2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2039A>G r.(?) p.(Asn680Ser) - VUS g.120497843T>C g.119955220T>C - - NOTCH2_000070 - - - - Germline - - - 0 - Anshuman Sewda
-?/. - c.2042T>A r.(?) p.(Ile681Asn) - likely benign g.120497840A>T - NOTCH2(NM_024408.4):c.2042T>A (p.I681N) - NOTCH2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2388T>A r.(?) p.(Ile796=) - likely benign g.120493438A>T g.119950815A>T - - NOTCH2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.2480-18_2480-17del r.(=) p.(=) - likely benign g.120491768_120491769del g.119949145_119949146del - - NOTCH2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2753A>G r.(?) p.(Asn918Ser) - VUS g.120484377T>C g.119941754T>C NOTCH2(NM_024408.4):c.2753A>G (p.N918S) - NOTCH2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2824A>G r.(?) p.(Thr942Ala) - likely benign g.120484306T>C g.119941683T>C NOTCH2(NM_024408.3):c.2824A>G (p.T942A) - NOTCH2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2901C>T r.(?) p.(Tyr967=) - likely benign g.120484229G>A - NOTCH2(NM_024408.3):c.2901C>T (p.Y967=) - NOTCH2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2933G>C r.(?) p.(Gly978Ala) - VUS g.120484197C>G - NOTCH2(NM_024408.3):c.2933G>C (p.G978A) - NOTCH2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2948A>G r.(?) p.(His983Arg) - VUS g.120484182T>C g.119941559T>C NOTCH2(NM_024408.4):c.2948A>G (p.H983R) - NOTCH2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2982-3T>C r.spl? p.? - likely benign g.120483382A>G g.119940759A>G NOTCH2(NM_024408.4):c.2982-3T>C - NOTCH2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.3117G>A r.(?) p.(Thr1039=) - benign g.120483244C>T g.119940621C>T NOTCH2(NM_024408.3):c.3117G>A (p.T1039=) - NOTCH2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3196C>G r.(?) p.(Leu1066Val) - likely benign g.120480621G>C g.119937998G>C NOTCH2(NM_001200001.1):c.3196C>G (p.(Leu1066Val)) - NOTCH2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3205C>A r.(?) p.(Arg1069=) - likely benign g.120480612G>T - NOTCH2(NM_024408.3):c.3205C>A (p.R1069=) - NOTCH2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.3234C>T r.(?) p.(Cys1078=) - benign g.120480583G>A g.119937960G>A NOTCH2(NM_024408.3):c.3234C>T (p.C1078=) - NOTCH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.3234C>T r.(?) p.(Cys1078=) - benign g.120480583G>A g.119937960G>A NOTCH2(NM_024408.3):c.3234C>T (p.C1078=) - NOTCH2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.3479A>G r.(?) p.(His1160Arg) - likely benign g.120479948T>C g.119937325T>C NOTCH2(NM_001200001.1):c.3479A>G (p.(His1160Arg)), NOTCH2(NM_024408.4):c.3479A>G (p.H1160R) - NOTCH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.3479A>G r.(?) p.(His1160Arg) - likely benign g.120479948T>C g.119937325T>C NOTCH2(NM_001200001.1):c.3479A>G (p.(His1160Arg)), NOTCH2(NM_024408.4):c.3479A>G (p.H1160R) - NOTCH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3479A>G r.(?) p.(His1160Arg) - benign g.120479948T>C - NOTCH2(NM_001200001.1):c.3479A>G (p.(His1160Arg)), NOTCH2(NM_024408.4):c.3479A>G (p.H1160R) - NOTCH2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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