Unique variants in the NSD1 gene

Information The variants shown are described using the NM_022455.4 transcript reference sequence.

420 entries on 5 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.(?_-579)_(*1023_?) r.(?) p.(?) - likely pathogenic g.? g.? NSD1 Deletion of entire sequencing region - RAD50_000000 no protein change given, heterozygous PubMed: Zanolli 2020 - - Unknown ? - - - - LOVD
?/. 1 - c.-29del r.(?) p.(=) - VUS g.176560942del g.177133941del - - NSD1_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-17-113del r.(?) p.(?) - likely benign g.176561975del - - - NSD1_000418 - - - rs1351511771 CLASSIFICATION record - - - - - MobiDetails
?/-? 1 2 c.-8G>A r.(?) p.(=) - VUS g.176562097G>A g.177135096G>A - - NSD1_000060 - - - - Germline - - - - - Martine van Belzen
+/. 1 2i c.(927+1_928-1) r.? p.? - pathogenic g.(176563032_176618884)_qterdelins[NC_000008.10:(159900000_168500000)_qter] - - 46,XX,t(5;8)(q35;q24.1) NSD1_000000 translocation PubMed: Kurotaki 2002 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 _1_23_ c.0 r.0 p.0 - pathogenic g.(175800000_176000000)_(177500000_177600000)del, g.(176200000_176400000)_(177500000_177600000)del - - - NSD1_000002, NSD1_000003 1.8 Mb deletion incl. HSPC111 to KIAA1100, (RP11-147K7_RP11-606E24)_(RP11-1006E8_RP11-1107B24)del, 1 more item PubMed: Kurotaki 2002, PubMed: Kurotaki 2002, OMIM:var0001 - - Germline/De novo (untested) - 1/30 cases, 19/30 cases - - - Johan den Dunnen
?/. 1 - c.29G>T r.(?) p.(Arg10Ile) - VUS g.176562133G>T g.177135132G>T NSD1(NM_022455.4):c.29G>T (p.R10I) - NSD1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.71C>T r.(?) p.(Ala24Val) - VUS g.176562175C>T - NSD1(NM_022455.4):c.71C>T (p.(Ala24Val)) - NSD1_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.197C>T r.(?) p.(Pro66Leu) ACMG VUS g.176562301C>T - - - NSD1_000382 ACMG grading: PM2 - - - Germline - - - - - Andreas Laner
-?/. 1 - c.217C>T r.(?) p.(Arg73Trp) - likely benign g.176562321C>T - NSD1(NM_022455.4):c.217C>T (p.(Arg73Trp)) - NSD1_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.243G>C r.(?) p.(Met81Ile) - VUS g.176562347G>C g.177135346G>C NSD1(NM_022455.4):c.243G>C (p.(Met81Ile)) - NSD1_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.298C>A r.(?) p.(Pro100Thr) - likely benign g.176562402C>A g.177135401C>A NSD1(NM_022455.4):c.298C>A (p.(Pro100Thr)) - NSD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 1 2 c.339C>T r.(?) p.(Cys113=) - VUS g.176562443C>T g.177135442C>T - - NSD1_000061 - - - - Germline - - - - - Martine van Belzen
?/. 1 - c.344C>G r.(?) p.(Ser115Cys) - VUS g.176562448C>G g.177135447C>G NSD1(NM_022455.4):c.344C>G (p.S115C) - NSD1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.395G>C r.(?) p.(Cys132Ser) - likely benign g.176562499G>C g.177135498G>C NSD1(NM_022455.4):c.395G>C (p.(Cys132Ser)) - NSD1_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.480C>T r.(?) p.(Asp160=) - benign g.176562584C>T g.177135583C>T NSD1(NM_022455.4):c.480C>T (p.D160=) - NSD1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.521T>A r.(?) p.(Val174Asp) - VUS g.176562625T>A - - - NSD1_000345 - - - - De novo - - - - - Domenico Coviello
-?/. 1 - c.607G>A r.(?) p.(Val203Ile) - likely benign g.176562711G>A g.177135710G>A NSD1(NM_022455.4):c.607G>A (p.(Val203Ile)) - NSD1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.682C>G r.(?) p.(Pro228Ala) - benign g.176562786C>G - NSD1(NM_022455.4):c.682C>G (p.(Pro228Ala)) - NSD1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.708G>C r.(?) p.(Gln236His) - likely benign g.176562812G>C - - - NSD1_000435 - - - rs28932175 Unknown - - - - - MobiDetails
?/. 2 - c.757C>G r.(?) p.(Leu253Val) - VUS g.176562861C>G g.177135860C>G NSD1(NM_022455.4):c.757C>G (p.L253V, p.(Leu253Val)) - NSD1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.886C>A r.(?) p.(Pro296Thr) - VUS g.176562990C>A g.177135989C>A NSD1(NM_022455.4):c.886C>A (p.P296T) - NSD1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 2 c.914A>G r.(?) p.(Gln305Arg) - VUS g.176563018A>G - - - NSD1_000346 - - - - Germline - - - - - Domenico Coviello
?/. 1 3i c.927+5G>A r.spl? p.? - VUS g.176563036G>A - - - NSD1_000347 - - - - Unknown - - - - - Domenico Coviello
-/. 1 2i c.927+48A>G r.(=) p.(=) - benign g.176563079A>G g.177136078A>G - - NSD1_000106 - - - rs79928962 Germline - - - - - Andreas Laner
?/. 1 3 c.947C>A r.(?) p.(Ser316Tyr) - VUS g.176618904C>A - - - NSD1_000348 - - - - Germline - - - - - Domenico Coviello
+/. 1 3 c.1007G>A r.0 p.0 - pathogenic g.176618964G>A g.177191963G>A hg18 g.176551570G>A - NSD1_000232 - - - - Germline/De novo (untested) - - - - - Domenico Coviello
?/. 1 - c.1021A>G r.(?) p.(Ile341Val) - VUS g.176618978A>G g.177191977A>G NSD1(NM_022455.4):c.1021A>G (p.(Ile341Val)) - NSD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 4 c.1086_1089del r.(?) p.(Gln363Thrfs*55) - likely pathogenic g.176631143_176631146del - - - NSD1_000313 - - - - De novo - - - - - Domenico Coviello
?/+ 1 4 c.1091A>G r.(?) p.(Tyr364Cys) - VUS g.176631148A>G g.177204147A>G - - NSD1_000059 de novo, in patient - - - De novo - - - - - Johan den Dunnen
+?/. 1 4 c.1107del r.(?) p.(Phe369Leufs*50) - likely pathogenic g.176631164del - - - NSD1_000314 - - - - De novo - - - - - Domenico Coviello
+/. 1 4 c.1171del r.(?) p.(Gln391AsnfsTer28) - pathogenic g.176631228del g.177204227del - - NSD1_000008 de novo, in patient PubMed: Douglas 2003 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.1183C>T r.(?) p.(Leu395=) - pathogenic g.176631240C>T g.177204239C>T NSD1(NM_022455.4):c.1183C>T (p.L395=) - NSD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 5 c.1216_1219del r.(?) p.(Glu406Lysfs*12) - likely pathogenic g.176631273_176631276del - - - NSD1_000315 - - - - De novo - - - - - Domenico Coviello
+?/. 1 4 c.1222_1223insAA r.(?) p.(Gly408Glufs*12) - pathogenic g.176631279_176631280insAA - - - NSD1_000316 - - - - De novo - - - - - Domenico Coviello
?/. 1 4 c.1236G>A r.(?) p.(=) - VUS g.176631293G>A - - - NSD1_000349 - - - - De novo - - - - - Domenico Coviello
?/. 2 4, 4i c.1236+2T>G r.spl p.? - likely pathogenic, likely pathogenic (dominant) g.176631295T>G - - - NSD1_000380 - - - - De novo - - - - - Domenico Coviello
-/. 1 - c.1236+9C>T r.(=) p.(=) - benign g.176631302C>T g.177204301C>T NSD1(NM_022455.4):c.1236+9C>T - NSD1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 4i_5i c.(1236+1_1237-1)_(3796+1_3797-1)del r.? p.? - pathogenic g.(?_176636637)_(176639196_?)del - chr5:176636637-?_176639196+?del - NSD1_000406 - 0 - - Germline - - - - - LOVD
+/. 1 5 c.1288C>T r.(?) p.(Gln430*) - pathogenic (dominant) g.176636688C>T g.177209687C>T - - NSD1_000247 - - ClinVar-RCV000296990.1 - De novo - - - - - Domenico Coviello
+/. 1 5 c.1310C>G r.(?) p.(Ser437*) - pathogenic g.176636710C>G g.177209709C>G - - NSD1_000004 - PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0002 - - De novo - - - - - Johan den Dunnen
+/. 1 5 c.1318C>T r.(?) p.(Arg440Ter) - pathogenic g.176636718C>T g.177209717C>T - - NSD1_000407 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+?/. 1 5 c.1447del r.(?) p.(Ser483Leufs*29) - likely pathogenic g.176636847del - - - NSD1_000317 - - - - De novo - - - - - Domenico Coviello
+?/. 1 5 c.1482C>A r.(?) p.(Cys494*) - pathogenic g.176636882C>A - - - NSD1_000412 - - - - Germline - - - - - Domenico Coviello
-/. 4 5 c.1482C>T r.(?) p.(Cys494=), p.(Cys494Cys) - benign g.176636882C>T g.177209881C>T NSD1(NM_022455.4):c.1482C>T (p.C494=) - NSD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Birgit Neitzel, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/., +?/. 3 5 c.1492C>T r.(?) p.(Arg498*), p.(R498*) ACMG likely pathogenic, pathogenic g.176636892C>T g.177209891C>T NSD1, NM_022455.4,c.1492C>T,p.Arg498* - NSD1_000021 heterozygous PubMed: Alfares 2018, PubMed: Douglas 2003, PubMed: Trujillano 2017 - - De novo, Germline, Unknown ? frequency in 1500 in-house samples: 0 - - - Johan den Dunnen, Daniel Trujillano
-/. 1 - c.1515T>C r.(?) p.(Asn505=) - benign g.176636915T>C g.177209914T>C NSD1(NM_022455.4):c.1515T>C (p.N505=) - NSD1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.1527del r.(?) p.(Ser510Valfs*2) - likely pathogenic (dominant) g.176569533del g.177209926del - - NSD1_000235 1 more item - - - De novo - - - - - Domenico Coviello
-/. 1 5 c.1558G>A r.(?) p.(Ala502Thr) - benign g.176636958G>A g.177209957G>A - - NSD1_000070 - - - - Germline - - - - - Birgit Neitzel
+?/. 1 5 c.1576del r.(?) p.(Arg526Glyfs*10) - likely pathogenic g.176636976del - - - NSD1_000318 - - - - De novo - - - - - Domenico Coviello
?/. 1 5 c.1601G>T r.(?) p.(Gly534Val) - VUS g.176637001G>T - - - NSD1_000350 - - - - Unknown - - - - - Domenico Coviello
+?/. 1 5 c.1633del r.(?) p.(Thr545Argfs*10) - pathogenic g.176637033del - 1633delA - NSD1_000319 - - - - De novo - - - - - Domenico Coviello
+?/. 1 5 c.1662_1663delinsC r.(?) p.(Ala555Glnfs*44) - likely pathogenic g.176637062_176637063delinsC - - - NSD1_000351 - - - - De novo - - - - - Domenico Coviello
+?/. 1 6 c.1667_1685del r.(?) p.(Asn556Thrfs*37) - likely pathogenic g.176637067_176637085del - - - NSD1_000320 - - - - De novo - - - - - Domenico Coviello
-?/. 1 - c.1685A>C r.(?) p.(Asn562Thr) - likely benign g.176637085A>C - NSD1(NM_022455.4):c.1685A>C (p.(Asn562Thr)) - NSD1_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1690G>T r.(?) p.(Ala564Ser) - benign g.176637090G>T g.177210089G>T NSD1(NM_022455.4):c.1690G>T (p.A564S) - NSD1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.1727del r.(?) p.(Asn576ThrfsTer23) - pathogenic g.176637127del g.177210126del - - NSD1_000009 - PubMed: Douglas 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.1743del r.(?) p.(Glu581Aspfs*18) - pathogenic g.176637143del g.177210142del 1742delA fsX - NSD1_000093 - - - - Germline - - - - - Birgit Neitzel
-/. 3 5 c.1749G>A r.(?) p.(=), p.(Glu583=) - benign g.176637149G>A g.177210148G>A NSD1(NM_022455.4):c.1749G>A (p.E583=) - NSD1_000039 VKGL data sharing initiative Nederland PubMed: Douglas 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/- 1 5 c.1763A>C r.(?) p.(Asp588Ala) - benign g.176637163A>C g.177210162A>C - - NSD1_000068 - - - - Germline - - - - - Martine van Belzen
-/. 3 5 c.1792T>C r.(?) p.(=), p.(Leu598=), p.(Leu598Leu) - benign g.176637192T>C g.177210191T>C NSD1(NM_022455.4):c.1792T>C (p.L598=) - NSD1_000040 VKGL data sharing initiative Nederland PubMed: Douglas 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Birgit Neitzel, VKGL-NL_VUmc
+/. 1 - c.1801A>T r.(?) p.(Lys601Ter) - pathogenic g.176637201A>T g.177210200A>T NSD1(NM_022455.4):c.1801A>T (p.K601*) - NSD1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 3 5 c.1810C>T r.(?) p.(R604*) - pathogenic g.176637210C>T g.177210209C>T - - NSD1_000022 de novo, in patient PubMed: Douglas 2003 - - De novo, Germline - - - - - Johan den Dunnen, Martine van Belzen
-/. 1 - c.1811G>T r.(?) p.(Arg604Leu) - benign g.176637211G>T g.177210210G>T NSD1(NM_022455.4):c.1811G>T (p.R604L) - NSD1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1824del r.(?) p.(Lys608Asnfs*12) - likely pathogenic (dominant) g.176637224del g.177210223del NM_022455.4:c.1824delA:p.(Lys608Asnfs*12) - NSD1_000398 - PubMed: Maddirevula 2018 - - De novo - - - - - LOVD
+/. 1 - c.1831C>T r.(?) p.(Arg611*) ACMG pathogenic g.176637231C>T g.177210230C>T - - NSD1_000389 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
-/. 3 5 c.1840G>T r.(?) p.(V614L), p.(Val614Leu) - benign g.176637240G>T g.177210239G>T NSD1(NM_022455.4):c.1840G>T (p.V614L) - NSD1_000041 VKGL data sharing initiative Nederland PubMed: Douglas 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+/. 1 - c.1845_1846del r.(?) p.(Cys615Trpfs*13) ACMG pathogenic g.176637245_176637246del g.177210244_177210245del 1840_1841delGT - NSD1_000390 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
+/. 1 5 c.1855del r.(?) p.(Val619Ter) - pathogenic g.176637255del g.177210254del - - NSD1_000408 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1893del r.(?) p.(Lys631Asnfs*22) - likely pathogenic (dominant) g.176637293del g.177210292del NM_022455.4:c.1893delG:p.(Lys631Asnfs*22) - NSD1_000399 - PubMed: Maddirevula 2018 - - De novo - - - - - LOVD
-?/. 1 - c.1951C>T r.(?) p.(Pro651Ser) - likely benign g.176637351C>T - NSD1(NM_022455.4):c.1951C>T (p.P651S) - NSD1_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1980C>T r.(?) p.(Asn660=) - likely benign g.176637380C>T g.177210379C>T NSD1(NM_022455.4):c.1980C>T (p.N660=) - NSD1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 6 c.1981_1982del r.(?) p.(Ser661Cysfs*3) - likely pathogenic g.176637381_176637382del - - - NSD1_000321 - - - - De novo - - - - - Domenico Coviello
?/. 1 - c.1982G>A r.(?) p.(Ser661Asn) - VUS g.176637382G>A g.177210381G>A NSD1(NM_022455.4):c.1982G>A (p.S661N) - NSD1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.2007_2013del r.(?) p.(Phe669LeufsTer14) - pathogenic g.176637407_176637413del g.177210406_177210412del NSD1(NM_022455.4):c.2007_2013delCGATAGA (p.F669Lfs*14) - NSD1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2031T>G r.(?) p.(Ser677=) - likely benign g.176637431T>G g.177210430T>G NSD1(NM_022455.4):c.2031T>G (p.S677=) - NSD1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 5 c.2032A>G r.(?) p.(Met678Val) - VUS g.176637432A>G g.177210431A>G - - NSD1_000076 unclassified variant - - - Germline - - - - - Birgit Neitzel
+/+ 1 5 c.2042dup r.(?) p.(Asn681fs) - pathogenic g.176637442dup g.177210441dup - - NSD1_000062 stopcodon after 2 AA - - - Germline - - - - - Martine van Belzen
+/. 2 - c.2058T>A r.(?) p.(Tyr686*) ACMG likely pathogenic (dominant), pathogenic g.176637458T>A g.177210457T>A NM_022455.4:c.2058T>A:p.(Tyr686*) - NSD1_000400 ACMG PVS1, PS2 PubMed: Anazi 2017, PubMed: Maddirevula 2018 - - De novo - - - - - Johan den Dunnen
-/., -?/. 10 5 c.2071G>A r.(?) p.(A691T), p.(Ala691Thr) - benign, likely benign g.176637471G>A g.177210470G>A NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr)) - NSD1_000042 131 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India), 1 more item PubMed: Douglas 2003, PubMed: Narang 2020, Journal: Narang 2020 - rs28932177 CLASSIFICATION record, Germline - 131/2795 individuals, 2/2795 individuals - - - Johan den Dunnen, Birgit Neitzel, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Mohammed Faruq
-?/. 1 - c.2078A>G r.(?) p.(Asn693Ser) - likely benign g.176637478A>G - NSD1(NM_022455.4):c.2078A>G (p.(Asn693Ser)) - NSD1_000431 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 3 c.2098_2100del r.(?) p.(Gln700del) - pathogenic g.176637498_176637500del g.177210497_177210499del 176637498_176637498delCAGAinsA - NSD1_000108 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.2100_2101del r.(?) p.(Lys701Alafs*4) ACMG pathogenic g.176637500_176637501del g.177210499_177210500del 2100_2101delGA - NSD1_000391 - PubMed: Faundes 2018 - - De novo - - - - - Johan den Dunnen
?/+? 1 5 c.2124_2127del r.(?) p.(His708fs) - VUS g.176637524_176637527del g.177210523_177210526del - - NSD1_000056 - - - - Germline - - - - - Johan den Dunnen
+/. 2 - c.2137dup r.(?) p.(Met713AsnfsTer5) ACMG pathogenic, pathogenic (dominant) g.176637537dup g.177210536dup c.2137dupA, NSD1(NM_022455.4):c.2137dupA (p.M713Nfs*5) - NSD1_000128 ACMG PVS1, PM1, PM2, PP2, VKGL data sharing initiative Nederland PubMed: Marinakis 2021 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Rotterdam, Jan Traeger-Synodinos
+?/. 1 5 c.2151_2152insTA r.(?) p.(Ser718*) - pathogenic g.176637551_176637552insTA - - - NSD1_000322 - - - - De novo - - - - - Domenico Coviello
-/. 1 - c.2169C>T r.(?) p.(Thr723=) - benign g.176637569C>T g.177210568C>T NSD1(NM_022455.4):c.2169C>T (p.T723=) - NSD1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 5 5 c.2176T>C r.(?) p.(S726P), p.(Ser726Pro) - benign g.176637576T>C g.177210575T>C NSD1(NM_022455.4):c.2176T>C (p.S726P) - NSD1_000043 VKGL data sharing initiative Nederland PubMed: Douglas 2003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Birgit Neitzel, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.2186dup r.(?) p.(Asn729Lysfs*4) - likely pathogenic g.176637586dup - - - NSD1_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2192_2193del r.(?) p.(Ser731Ter) - pathogenic g.176637592_176637593del g.177210591_177210592del NSD1(NM_022455.4):c.2192_2193delCT (p.S731*) - NSD1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 5 c.2258_2259insTC r.(?) p.(Lys754Glnfs*15) - likely pathogenic, pathogenic g.176637658_176637659insTC - - - NSD1_000323 - - - - De novo - - - - - Domenico Coviello
+?/. 1 5 c.2262_2263del r.(?) p.(Lys754Asnfs*10) - likely pathogenic g.176637662_176637663del - - - NSD1_000324 - - - - De novo - - - - - Domenico Coviello
+/. 1 - c.2276C>G r.(?) p.(Ser759*) - pathogenic g.176637676C>G g.177210675C>G - - NSD1_000260 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587784084 Germline - 1/2794 individuals - - - Mohammed Faruq
-?/. 1 - c.2295C>T r.(?) p.(Asn765=) - likely benign g.176637695C>T - NSD1(NM_022455.4):c.2295C>T (p.N765=) - NSD1_000402 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 5 c.2323C>T r.(?) p.(Gln775*), p.(Q775*) ACMG pathogenic g.176637723C>T g.177210722C>T - - NSD1_000023 de novo, in patient PubMed: Douglas 2003, PubMed: Trujillano 2017 - - De novo - - - - - Johan den Dunnen, Daniel Trujillano
-?/. 2 - c.2339C>T r.(?) p.(Ser780Leu) - likely benign g.176637739C>T g.177210738C>T NSD1(NM_022455.4):c.2339C>T (p.(Ser780Leu)) - NSD1_000205 30 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs201327209 CLASSIFICATION record, Germline - 30/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-?/. 1 - c.2363G>A r.(?) p.(Arg788Gln) - likely benign g.176637763G>A g.177210762G>A NSD1(NM_022455.4):c.2363G>A (p.(Arg788Gln)) - NSD1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2386_2389del r.(?) p.(Glu796IlefsTer10) - pathogenic g.176637786_176637789del g.177210785_177210788del NSD1(NM_022455.4):c.2386_2389delGAAA (p.E796Ifs*10) - NSD1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2420A>G r.(?) p.(Asn807Ser) - likely benign g.176637820A>G - NSD1(NM_022455.4):c.2420A>G (p.(Asn807Ser)) - NSD1_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2425G>A r.(?) p.(Glu809Lys) - likely benign g.176637825G>A - NSD1(NM_022455.4):c.2425G>A (p.(Glu809Lys)) - NSD1_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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