Unique variants in the NOTCH3 gene

Information The variants shown are described using the NM_000435.2 transcript reference sequence.

317 entries on 4 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 20 c.? r.(?) p.(Gly?Cys) - pathogenic g.? - Exon20 G1063C EGF27 - NOTCH3_000058 varaint?, on position 1063 there is no Gly PubMed: Joutel 2001 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.16C>T r.(?) p.(Arg6Cys) - likely benign g.15311701G>A - NOTCH3(NM_000435.2):c.16C>T (p.R6C) - NOTCH3_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.33_35dup r.(?) p.(Arg13dup) - VUS g.15311695_15311697dup - NOTCH3(NM_000435.2):c.33_35dupCCG (p.R13dup) - NOTCH3_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.48G>A r.(?) p.(Ser16=) - benign g.15311669C>T g.15200858C>T NOTCH3(NM_000435.2):c.48G>A (p.S16=) - NOTCH3_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.48_53dup r.(?) p.(Pro22_Pro23dup) - VUS g.15311665_15311670dup g.15200854_15200859dup NOTCH3(NM_000435.2):c.48_53dupGCCGCC (p.P22_P23dup) - NOTCH3_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.86del r.(?) p.(Leu29ArgfsTer5) - benign g.15311631del g.15200820del NOTCH3(NM_000435.2):c.86delT (p.L29Rfs*5) - NOTCH3_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.96_98del r.(?) p.(Leu33del) - likely benign g.15311630_15311632del g.15200819_15200821del NOTCH3(NM_000435.2):c.96_98delGCT (p.L33del) - NOTCH3_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.101C>T r.(?) p.(Ala34Val) - likely benign g.15311616G>A g.15200805G>A NOTCH3(NM_000435.2):c.101C>T (p.A34V) - NOTCH3_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.118+11G>C r.(=) p.(=) - likely benign g.15311588C>G g.15200777C>G NOTCH3(NM_000435.2):c.118+11G>C - NOTCH3_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.120C>T r.(?) p.(Ala40=) - likely benign g.15308388G>A g.15197577G>A NOTCH3(NM_000435.2):c.120C>T (p.A40=) - NOTCH3_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/? 1 2 c.127T>G r.(?) p.(Cys43Gly) - VUS g.15308381A>C g.15197570A>C - - NOTCH3_000123 - PubMed: Peters 2005 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 2 c.128G>T r.(?) p.(Cys43Phe) - VUS g.15308380C>A g.15197569C>A - - NOTCH3_000080 - PubMed: Lesnik Oberstein 2003 - - Germline - - - - - Global Variome, with Curator vacancy
+?/+ 1 2 c.145T>G r.(?) p.(Cys49Gly) - likely pathogenic g.15308363A>C g.15197552A>C - - NOTCH3_000136 - PubMed: published - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 2 c.146G>A r.(?) p.(Cys49Tyr) - VUS g.15308362C>T g.15197551C>T - - NOTCH3_000017 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 2 c.146G>T r.(?) p.(Cys49Phe) - VUS g.15308362C>A g.15197551C>A - - NOTCH3_000091 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 2 c.160C>T r.(?) p.(Arg54Cys) - VUS g.15308348G>A g.15197537G>A - - NOTCH3_000048 - PubMed: Escary 2000 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.168C>G r.(?) p.(Thr56=) - likely benign g.15308340G>C - NOTCH3(NM_000435.2):c.168C>G (p.T56=) - NOTCH3_000378 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/? 1 2 c.179C>G r.(?) p.(Ser60Cys) - VUS g.15308329G>C g.15197518G>C - - NOTCH3_000092 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
-?/., ?/. 2 - c.181C>T r.(?) p.(Arg61Trp) - likely benign, VUS g.15308327G>A g.15197516G>A NOTCH3(NM_000435.2):c.181C>T (p.R61W) - NOTCH3_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/? 1 2 c.194G>A r.(?) p.(Cys65Tyr) - pathogenic g.15308314C>T g.15197503C>T - - NOTCH3_000137 - PubMed: Bianchi 2008 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 2 c.194G>C r.(?) p.(Cys65Ser) - VUS g.15308314C>G g.15197503C>G - - NOTCH3_000093 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
-/-, -?/-? 2 2i_16i c.(197+1_198-1)_(2566+1_2567-1)del r.(198_2566)del, r.198_2566del p.? - benign, likely benign g.(15292613_15295105)_(15303331_15308310)del - r.198_2566del (Cys67fs) - NOTCH3_000206 variant affects protein function but is not associated with phenotype CADASIL PubMed: Rutten 2013 - - Germline - - - - - Johan den Dunnen, Martine van Belzen
?/? 1 3 c.200G>A r.(?) p.(Cys67Tyr) - VUS g.15303328C>T g.15192517C>T - - NOTCH3_000077 - PubMed: Moon 2003 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 2 3 c.213G>T r.(?) p.(Trp71Cys) - VUS g.15303315C>A g.15192504C>A - - NOTCH3_000001 - PubMed: Joutel 1996 OMIM:var0001 - rs28937321 Germline, Unknown - - - - - Global Variome, with Curator vacancy, Martine van Belzen
-?/. 1 - c.223C>T r.(?) p.(Arg75Trp) - likely benign g.15303305G>A g.15192494G>A NOTCH3(NM_000435.2):c.223C>T (p.R75W) - NOTCH3_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 3 c.224G>C r.(?) p.(Arg75Pro) - pathogenic g.15303304C>G g.15192493C>G - - NOTCH3_000128 - PubMed: Kim 2006 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.226T>C r.(?) p.(Cys76Arg) - VUS g.15303302A>G g.15192491A>G - - NOTCH3_000073 - PubMed: Markus 2002 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.228T>G r.(?) p.(Cys76Trp) - VUS g.15303300A>C g.15192489A>C - - NOTCH3_000094 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.259T>C r.(?) p.(Cys87Arg) - VUS g.15303269A>G g.15192458A>G - - NOTCH3_000095 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.268C>T r.(?) p.(Arg90Cys) - VUS g.15303260G>A g.15192449G>A - - NOTCH3_000018 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.277_279dup r.(?) p.(Cys93dup) - VUS g.15303250_15303252dup g.15192439_15192441dup 357insTGC - NOTCH3_000135 - PubMed: Mazzei 2007 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.278G>A r.(?) p.(Cys93Tyr) - VUS g.15303250C>T g.15192439C>T - - NOTCH3_000065 - PubMed: Kalimo 2002 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.278G>T r.(?) p.(Cys93Phe) - VUS g.15303250C>A g.15192439C>A - - NOTCH3_000038 - PubMed: Dichgans 2000 - - Germline - - - - - Global Variome, with Curator vacancy
-/. 2 - c.303C>T r.(?) p.(Thr101=) - benign g.15303225G>A g.15192414G>A NOTCH3(NM_000435.2):c.303C>T (p.T101=) - NOTCH3_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/-? 1 3 c.307C>T r.307c>u p.Arg103* - likely benign g.15303221G>A g.15192410G>A - - NOTCH3_000204 variant affects protein function but is not associated with phenotype CADASIL PubMed: Rutten 2013 - - Germline - - - - - Martine van Belzen
?/? 1 3 c.318C>G r.(?) p.(Cys106Trp) - VUS g.15303210G>C g.15192399G>C - - NOTCH3_000096 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/. 1 3 c.322T>C r.(?) p.(Cys108Arg) - pathogenic g.15303206A>G g.15192395A>G 322C>T - NOTCH3_000138 - PubMed: Wang ZX 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 3 c.323G>A r.(?) p.(Cys108Tyr) - pathogenic g.15303205C>T g.15192394C>T - - NOTCH3_000097 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/? 1 3 c.324C>G r.(?) p.(Cys108Trp) - pathogenic g.15303204G>C g.15192393G>C - - NOTCH3_000139 - PubMed: Rojas-Marcos 2004 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 3 c.328C>T r.(?) p.(Arg110Cys) - VUS g.15303200G>A g.15192389G>A - - NOTCH3_000019 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.338G>A r.(?) p.(Arg113Gln) - likely benign g.15303190C>T g.15192379C>T NOTCH3(NM_000435.2):c.338G>A (p.R113Q) - NOTCH3_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 4 c.350G>T r.(?) p.(Cys117Phe) - VUS g.15303100C>A g.15192289C>A - - NOTCH3_000032 - PubMed: Dichgans 1999 - - Germline - - - - - Global Variome, with Curator vacancy
+/? 1 4 c.353C>G r.(?) p.(Ser118Cys) - pathogenic g.15303097G>C g.15192286G>C - - NOTCH3_000155 - PubMed: Lee 2006 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.368G>A r.(?) p.(Cys123Tyr) - VUS g.15303082C>T g.15192271C>T - - NOTCH3_000049 - PubMed: Escary 2000 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.368G>T r.(?) p.(Cys123Phe) - VUS g.15303082C>A g.15192271C>A - - NOTCH3_000039 - PubMed: Dichgans 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/?, ?/? 2 4 c.382T>G r.(?) p.(Cys128Gly) - pathogenic, VUS g.15303068A>C g.15192257A>C - - NOTCH3_000129, NOTCH3_000153 - PubMed: Coto 2006, PubMed: published - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.383G>A r.(?) p.(Cys128Tyr) - VUS g.15303067C>T g.15192256C>T - - NOTCH3_000066 - PubMed: Kalimo 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.383G>T r.(?) p.(Cys128Phe) - pathogenic g.15303067C>A g.15192256C>A - - NOTCH3_000132 - {lab Leiden} - - Unknown - - - - - Martine van Belzen
-?/. 1 - c.390C>T r.(?) p.(His130=) - likely benign g.15303060G>A g.15192249G>A NOTCH3(NM_000435.2):c.390C>T (p.H130=) - NOTCH3_000362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 4 c.391G>T r.(?) p.(Gly131Cys) - pathogenic g.15303059C>A g.15192248C>A - - NOTCH3_000161 - PubMed: Ungaro2008 - - Unknown - - - - - Judith Pagan
+/+, ?/? 2 4 c.397C>T r.(?) p.(Arg133Cys) - pathogenic, VUS g.15303053G>A g.15192242G>A - - NOTCH3_000008 - PubMed: Joutel 1997 OMIM:var0008, PubMed: Mykkanen 2004 OMIM:var0008 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.402C>G r.(?) p.(Cys134Trp) - VUS g.15303048G>C g.15192237G>C - - NOTCH3_000059 - PubMed: Joutel 2001 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.407T>G r.(?) p.(Val136Gly) ACMG VUS g.15303043A>C g.15192232A>C - - NOTCH3_000368 1 more item - - - Germline - - - - - Andreas Laner
+/+ 1 4 c.421C>T r.(?) p.(Arg141Cys) - pathogenic g.15303029G>A g.15192218G>A - - NOTCH3_000020 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.425T>G r.(?) p.(Phe142Cys) - pathogenic g.15303025A>C g.15192214A>C - - NOTCH3_000067 - PubMed: Kalimo 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.431G>A r.(?) p.(Cys144Tyr) - pathogenic g.15303019C>T g.15192208C>T - - NOTCH3_000040 - PubMed: Dichgans 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.431G>C r.(?) p.(Cys144Ser) - pathogenic g.15303019C>G g.15192208C>G - - NOTCH3_000041 - PubMed: Dichgans 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.431G>T r.(?) p.(Cys144Phe) - pathogenic g.15303019C>A g.15192208C>A - - NOTCH3_000045 - PubMed: Grigg 2000 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 2 - c.432C>T r.(?) p.(Cys144=) - likely benign g.15303018G>A g.15192207G>A NOTCH3(NM_000435.2):c.432C>T (p.C144=) - NOTCH3_000361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/? 1 4 c.434C>G r.(?) p.(Ser145Cys) - VUS g.15303016G>C g.15192205G>C - - NOTCH3_000098 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.436T>C r.(?) p.(Cys146Arg) - pathogenic g.15303014A>G g.15192203A>G - - NOTCH3_000021 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 1 4 c.437G>A r.(?) p.(Cys146Tyr) - VUS g.15303013C>T g.15192202C>T - - NOTCH3_000140 - PubMed: Malandrini 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/? 1 4 c.437G>T r.(?) p.(Cys146Phe) - pathogenic g.15303013C>A g.15192202C>A - - NOTCH3_000022 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.445G>T r.(?) p.(Gly149Cys) - pathogenic g.15303005C>A g.15192194C>A - - NOTCH3_000099 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.449A>G r.(?) p.(Tyr150Cys) - pathogenic g.15303001T>C g.15192190T>C - - NOTCH3_000042 - PubMed: Dichgans 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.457C>T r.(?) p.(Arg153Cys) - pathogenic g.15302993G>A g.15192182G>A - - NOTCH3_000023 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/? 1 4 c.464G>A r.(?) p.(Cys155Tyr) - pathogenic g.15302986C>T g.15192175C>T - - NOTCH3_000133 - - - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.464G>C r.(?) p.(Cys155Ser) - pathogenic g.15302986C>G g.15192175C>G - - NOTCH3_000100 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+?/. 1 - c.472G>A r.(?) p.(Asp158Asn) - likely pathogenic g.15302978C>T g.15192167C>T NOTCH3(NM_000435.2):c.472G>A(p.D158N) - NOTCH3_000381 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 227 - - - LOVD
+/+ 1 4 c.484T>A r.(?) p.(Cys162Ser) - pathogenic g.15302966A>T g.15192155A>T - - NOTCH3_000050 - PubMed: Escary 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.486C>G r.(?) p.(Cys162Trp) - pathogenic g.15302964G>C g.15192153G>C - - NOTCH3_000056 - PubMed: Lesnik Oberstein 2001 - - Germline - - - - - Global Variome, with Curator vacancy
+/+, +?/., ?/? 3 4 c.505C>T r.(?) p.(Arg169Cys) - likely pathogenic, pathogenic, VUS g.15302945G>A g.15192134G>A NOTCH3(NM_000435.2):c.505C>T(R169C) - NOTCH3_000002 - PubMed: Joutel 1997 OMIM:var0002, PubMed: Sun 2018 - rs28933696 Germline, Germline/De novo (untested), Unknown ? 209 - - - Global Variome, with Curator vacancy, Martine van Belzen
-?/. 4 - c.509A>G r.(?) p.(His170Arg) - likely benign g.15302941T>C g.15192130T>C NOTCH3(NM_000435.2):c.509A>G (p.H170R), NOTCH3(NM_000435.3):c.509A>G (p.H170R) - NOTCH3_000173 1 homozygous; Clinindb (India), 14 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs147373451 CLASSIFICATION record, Germline - 1/2794 individuals, 14/2794 individuals - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, Mohammed Faruq
+/+ 1 4 c.511G>T r.(?) p.(Gly171Cys) - pathogenic g.15302939C>A g.15192128C>A - - NOTCH3_000024 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.520T>C r.(?) p.(Cys174Arg) - pathogenic g.15302930A>G g.15192119A>G - - NOTCH3_000078 - PubMed: Santa 2003 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.521G>A r.(?) p.(Cys174Tyr) - pathogenic g.15302929C>T g.15192118C>T - - NOTCH3_000033 - PubMed: Dichgans 1999 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.521G>T r.(?) p.(Cys174Phe) - pathogenic g.15302929C>A g.15192118C>A - - NOTCH3_000054 - PubMed: Kotorii 2001 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.539C>G r.(?) p.(Ser180Cys) - pathogenic g.15302911G>C g.15192100G>C - - NOTCH3_000051 - PubMed: Escary 2000 OMIM:var0003 - - Germline - - - - - Global Variome, with Curator vacancy
+/+, +/., +?/., ?/? 8 4 c.544C>T r.(?) p.(Arg182Cys) ACMG likely pathogenic, pathogenic, VUS g.15302906G>A g.15192095G>A - - NOTCH3_000003, NOTCH3_000025 VKGL data sharing initiative Nederland, 1 more item PubMed: Ganapathy 2019, PubMed: Joutel 1996, PubMed: Joutel 1997, PubMed: Joutel 2000 OMIM:var0003 - rs28933697 CLASSIFICATION record, De novo, Germline, Unknown - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, Andreas Laner, Martine van Belzen, VKGL-NL_Nijmegen
+/+ 1 4 c.547T>A r.(?) p.(Cys183Ser) - pathogenic g.15302903A>T g.15192092A>T - - NOTCH3_000043 - PubMed: Dichgans 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.547T>C r.(?) p.(Cys183Arg) - pathogenic g.15302903A>G g.15192092A>G - - NOTCH3_000034 - PubMed: Dichgans 1999 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.548G>T r.(?) p.(Cys183Phe) - pathogenic g.15302902C>A g.15192091C>A - - NOTCH3_000101 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.553T>C r.(?) p.(Cys185Arg) - pathogenic g.15302897A>G g.15192086A>G - - NOTCH3_000026 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.553T>G r.(?) p.(Cys185Gly) - pathogenic g.15302897A>C g.15192086A>C - - NOTCH3_000027 - PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.555T>A r.(?) p.(Cys185Ter) - VUS g.15302895A>T g.15192084A>T NOTCH3(NM_000435.2):c.555T>A (p.(Cys185Ter)) - NOTCH3_000342 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 4 c.566A>G r.(?) p.(Tyr189Cys) - pathogenic g.15302884T>C g.15192073T>C - - NOTCH3_000081 - PubMed: Lesnik Oberstein 2003 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.580T>A r.(?) p.(Cys194Ser) - pathogenic g.15302870A>T g.15192059A>T - - NOTCH3_000074 - PubMed: Markus 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.580T>C r.(?) p.(Cys194Arg) - pathogenic g.15302870A>G g.15192059A>G - - NOTCH3_000068 - PubMed: Kalimo 2002 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.581G>A r.(?) p.(Cys194Tyr) - pathogenic g.15302869C>T g.15192058C>T - - NOTCH3_000052 - PubMed: Escary 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.581G>T r.(?) p.(Cys194Phe) - pathogenic g.15302869C>A g.15192058C>A - - NOTCH3_000044 - PubMed: Dichgans 2000 - - Germline - - - - - Global Variome, with Curator vacancy
-?/. 1 - c.585G>A r.(?) p.(Glu195=) - likely benign g.15302865C>T g.15192054C>T NOTCH3(NM_000435.2):c.585G>A (p.E195=) - NOTCH3_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/+ 1 4 c.601T>C r.(?) p.(Cys201Arg) - likely pathogenic g.15302849A>G g.15192038A>G - - NOTCH3_000157 not found in 88 control chromosome PubMed: Uyguner 2006 - - Germline - - - - - Judith Pagan
+/+ 1 4 c.602G>A r.(?) p.(Cys201Tyr) - pathogenic g.15302848C>T g.15192037C>T - - NOTCH3_000102 - PubMed: Opherk 2004 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.605C>A r.(?) p.(Ala202Glu) - VUS g.15302845G>T g.15192034G>T NOTCH3(NM_000435.2):c.605C>A (p.A202E) - NOTCH3_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 3 - c.606A>G r.(?) p.(Ala202=) - benign g.15302844T>C g.15192033T>C NOTCH3(NM_000435.2):c.606A>G (p.A202=), NOTCH3(NM_000435.3):c.606A>G (p.A202=) - NOTCH3_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 4 c.616T>C r.(?) p.(Cys206Arg) - pathogenic g.15302834A>G g.15192023A>G - - NOTCH3_000115 - PubMed: published - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.617G>A r.(?) p.(Cys206Tyr) - pathogenic g.15302833C>T g.15192022C>T - - NOTCH3_000053 - PubMed: Escary 2000 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 4 c.619C>T r.(?) p.(Arg207Cys) - pathogenic g.15302831G>A g.15192020G>A - - NOTCH3_000037 - PubMed: Oberstein 1999 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.625G>A r.(?) p.(Gly209Arg) - VUS g.15302825C>T g.15192014C>T NOTCH3(NM_000435.2):c.625G>A (p.(Gly209Arg)) - NOTCH3_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 1 4 c.634T>A r.(?) p.(Cys212Ser) - pathogenic g.15302816A>T g.15192005A>T - - NOTCH3_000028 not in 100 control samples PubMed: Joutel 1997 - - Germline - - - - - Global Variome, with Curator vacancy
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