Unique variants in the NOTCH2 gene

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

163 entries on 2 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.? r.(?) p.(Arg285His) - VUS g.? - - - NPHS2_000000 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_AMC
-/. 1 - 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
-/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - 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 - - - - - VKGL-NL_Leiden
?/. 1 - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - 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, VKGL-NL_Rotterdam
-/. 3 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 2 - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 2 - 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, VKGL-NL_AMC
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-/. 2 - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/., ?/. 3 - c.137A>G r.(?) p.(Asn46Ser) - benign, 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, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - 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
-/., -?/. 2 - c.272G>T r.(?) p.(Arg91Leu) - benign, 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, VKGL-NL_Utrecht
-?/. 1 - 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
-?/. 3 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - 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_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - 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 - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.456C>T r.(?) p.(Pro152=) - benign, 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, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Groningen
?/. 1 - 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
?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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
+?/. 1 - c.854G>A r.(?) p.(Arg285His) - VUS g.120529603C>T g.119986980C>T - - NOTCH2_000160 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 - 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
+?/. 1 - c.1063G>A r.(?) p.(Asp355Asn) - VUS g.120512179C>T g.119969556C>T - - NOTCH2_000159 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
-?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.1235G>T r.(?) p.(Cys412Phe) - VUS g.120510729C>A g.119968106C>A - - NOTCH2_000071 - - - - Germline/De novo (untested) - - - - - Gunnar Schmidt
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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
+/? 3 8 c.1331G>A r.(?) p.(Cys444Tyr) - pathogenic g.120510178C>T g.119967555C>T - - NOTCH2_000004 - PubMed: McDaniell 2006, OMIM:var0002 - - Germline, Unknown - - - - - LOVD
-?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-/. 2 - 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, VKGL-NL_AMC
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - 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, VKGL-NL_Nijmegen
+?/. 1 - 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
?/. 1 - 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 - - - - - VKGL-NL_Leiden
-?/. 2 - 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, VKGL-NL_Rotterdam
?/. 1 - c.2039A>G r.(?) p.(Asn680Ser) - VUS g.120497843T>C g.119955220T>C - - NOTCH2_000070 - - - - Germline - - - - - Anshuman Sewda
-?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-?/. 1 - 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
?/. 1 - 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
?/. 1 - 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
-?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/. 1 - 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
-/. 2 - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 3 - c.3479A>G r.(?) p.(His1160Arg) - benign, 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, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.3519C>T r.(?) p.(Cys1173=) - likely benign g.120479908G>A - NOTCH2(NM_024408.3):c.3519C>T (p.C1173=) - NOTCH2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 5 - c.3625T>G r.(?) p.(Phe1209Val) - likely benign, VUS g.120478125A>C g.119935502A>C 1 more item - NOTCH2_000024 5 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs147223770 CLASSIFICATION record, Germline, Unknown - 5/2793 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Anshuman Sewda, Mohammed Faruq
-/. 1 - c.3656-22G>A r.(=) p.(=) - benign g.120471857C>T g.119929234C>T NOTCH2(NM_024408.3):c.3656-22G>A - NOTCH2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3702T>C r.(?) p.(His1234=) - likely benign g.120471789A>G g.119929166A>G NOTCH2(NM_024408.3):c.3702T>C (p.H1234=) - NOTCH2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3706C>T r.(?) p.(Leu1236Phe) - likely benign g.120471785G>A g.119929162G>A NOTCH2(NM_024408.3):c.3706C>T (p.(Leu1236Phe)) - NOTCH2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.3779G>A r.(?) p.(Arg1260His) - benign g.120471712C>T g.119929089C>T NOTCH2(NM_024408.3):c.3779G>A (p.R1260H) - NOTCH2_000093 13 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs75423398 CLASSIFICATION record, Germline - 13/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.3913G>A r.(?) p.(Val1305Ile) - likely benign g.120469214C>T - NOTCH2(NM_024408.3):c.3913G>A (p.V1305I) - NOTCH2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.3980A>G r.(?) p.(Asp1327Gly) - benign, likely benign g.120469147T>C g.119926524T>C NOTCH2(NM_024408.3):c.3980A>G (p.(Asp1327Gly)), NOTCH2(NM_024408.4):c.3980A>G (p.D1327G) - NOTCH2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
+?/. 1 - c.3995G>A r.(?) p.(Arg1332His) - likely pathogenic (recessive) g.120469132C>T - - - NOTCH2_000110 - PubMed: Stalke 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.4000C>G r.(?) p.(Pro1334Ala) - VUS g.120469127G>C - NOTCH2(NM_024408.3):c.4000C>G (p.(Pro1334Ala)) - NOTCH2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.4028A>G r.(?) p.(Gln1343Arg) - likely benign g.120468411T>C - NOTCH2(NM_024408.3):c.4028A>G (p.Q1343R) - NOTCH2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4077C>T r.(?) p.(His1359=) - likely benign g.120468362G>A - NOTCH2(NM_024408.3):c.4077C>T (p.H1359=) - NOTCH2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4154A>G r.(?) p.(His1385Arg) - likely benign g.120468285T>C g.119925662T>C NOTCH2(NM_024408.3):c.4154A>G (p.(His1385Arg)) - NOTCH2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.4238T>A r.(?) p.(Leu1413His) - likely benign g.120468201A>T g.119925578A>T 1 more item - NOTCH2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.4283A>G r.(?) p.(Gln1428Arg) - likely benign g.120468156T>C g.119925533T>C NOTCH2(NM_024408.3):c.4283A>G (p.Q1428R) - NOTCH2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.4305G>A r.(?) p.(Arg1435=) - benign g.120468134C>T g.119925511C>T NOTCH2(NM_024408.3):c.4305G>A (p.R1435=) - NOTCH2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.4311C>T r.(?) p.(Gly1437=) - benign g.120468128G>A g.119925505G>A NOTCH2(NM_024408.3):c.4311C>T (p.G1437=) - NOTCH2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.4699C>T r.(?) p.(Arg1567Trp) - likely benign, VUS g.120466420G>A g.119923797G>A NOTCH2(NM_024408.4):c.4699C>T (p.R1567W) - NOTCH2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.4706T>C r.(?) p.(Leu1569Pro) - VUS g.120466413A>G g.119923790A>G NOTCH2(NM_024408.3):c.4706T>C (p.L1569P) - NOTCH2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.4897G>A r.(?) p.(Val1633Ile) - likely benign, VUS g.120465364C>T g.119922741C>T NOTCH2(NM_024408.3):c.4897G>A (p.(Val1633Ile)), NOTCH2(NM_024408.4):c.4897G>A (p.V1633I) - NOTCH2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht
+?/., -/., -?/. 5 - c.4999G>A r.(?) p.(Val1667Ile) - benign, likely benign, likely pathogenic (recessive) g.120465262C>T g.119922639C>T 1 more item - NOTCH2_000075 VKGL data sharing initiative Nederland PubMed: Stalke 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.5065A>T r.(?) p.(Ile1689Phe) - likely benign g.120465007T>A g.119922384T>A NOTCH2(NM_024408.3):c.5065A>T (p.(Ile1689Phe)) - NOTCH2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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