Full data view for gene NSD1

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

525 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.(?_-579)_(*1023_?) r.(?) p.(?) Unknown - likely pathogenic g.? g.? NSD1 Deletion of entire sequencing region - RAD50_000000 no protein change given, heterozygous PubMed: Zanolli 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood targeted sequencing retinal disease 80 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - 0 - - 1 LOVD
?/. - c.-29del r.(?) p.(=) Unknown - VUS g.176560942del g.177133941del - - NSD1_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17-113del r.(?) p.(?) Unknown - likely benign g.176561975del - - - NSD1_000418 - - - rs1351511771 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
?/-? 2 c.-8G>A r.(?) p.(=) Unknown - VUS g.176562097G>A g.177135096G>A - - NSD1_000060 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Martine van Belzen
+/. 2i c.(927+1_928-1) r.? p.? Unknown - 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) - - - 0 - DNA FISH - - SOTOS 11896389-Pat PubMed: Kurotaki 2002 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_23_ c.0 r.0 p.0 Unknown - pathogenic g.(175800000_176000000)_(177500000_177600000)del - - - NSD1_000002 2.2 Mb deletion incl. HSPC111 to KIAA1100 (RP11-103O5_RP11-147K7)_(RP11-1006E8_RP11-1107B24)del PubMed: Kurotaki 2002, OMIM:var0001 - - Germline/De novo (untested) - 19/30 cases - 0 - DNA FISH - - SOTOS - PubMed: Kurotaki 2002 - - - Japan - - 0 - - 19 Johan den Dunnen
+/. _1_23_ c.0 r.0 p.0 Unknown - pathogenic g.(176200000_176400000)_(177500000_177600000)del - - - NSD1_000003 1.8 Mb deletion incl. HSPC111 to KIAA1100, (RP11-147K7_RP11-606E24)_(RP11-1006E8_RP11-1107B24)del PubMed: Kurotaki 2002 - - Germline/De novo (untested) - 1/30 cases - 0 - DNA FISH - - SOTOS - PubMed: Kurotaki 2002 - - - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.29G>T r.(?) p.(Arg10Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.71C>T r.(?) p.(Ala24Val) Unknown - VUS g.176562175C>T - NSD1(NM_022455.4):c.71C>T (p.(Ala24Val)) - NSD1_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197C>T r.(?) p.(Pro66Leu) Unknown ACMG VUS g.176562301C>T - - - NSD1_000382 ACMG grading: PM2 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - - - - 0 - - 1 Andreas Laner
-?/. - c.217C>T r.(?) p.(Arg73Trp) Unknown - likely benign g.176562321C>T - NSD1(NM_022455.4):c.217C>T (p.(Arg73Trp)) - NSD1_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.243G>C r.(?) p.(Met81Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.298C>A r.(?) p.(Pro100Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.339C>T r.(?) p.(Cys113=) Unknown - VUS g.176562443C>T g.177135442C>T - - NSD1_000061 - - - - Germline - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 Martine van Belzen
?/. - c.344C>G r.(?) p.(Ser115Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395G>C r.(?) p.(Cys132Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.480C>T r.(?) p.(Asp160=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.521T>A r.(?) p.(Val174Asp) Unknown - VUS g.176562625T>A - - - NSD1_000345 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
-?/. - c.607G>A r.(?) p.(Val203Ile) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.682C>G r.(?) p.(Pro228Ala) Unknown - benign g.176562786C>G - NSD1(NM_022455.4):c.682C>G (p.(Pro228Ala)) - NSD1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757C>G r.(?) p.(Leu253Val) Unknown - VUS g.176562861C>G g.177135860C>G NSD1(NM_022455.4):c.757C>G (p.L253V) - NSD1_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886C>A r.(?) p.(Pro296Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.914A>G r.(?) p.(Gln305Arg) Unknown - VUS g.176563018A>G - - - NSD1_000346 - - - - Germline - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
?/. 3i c.927+5G>A r.spl? p.? Unknown - VUS g.176563036G>A - - - NSD1_000347 - - - - Unknown - - - 0 - DNA DHPLC blood - SOTOS1 - - - M - Italy - - 0 - - 1 Domenico Coviello
-/. 2i c.927+48A>G r.(=) p.(=) Parent #1 - benign g.176563079A>G g.177136078A>G - - NSD1_000106 - - - rs79928962 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 3 c.947C>A r.(?) p.(Ser316Tyr) Unknown - VUS g.176618904C>A - - - NSD1_000348 - - - - Germline - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
+/. 3 c.1007G>A r.0 p.0 Unknown - pathogenic g.176618964G>A g.177191963G>A hg18 g.176551570G>A - NSD1_000232 - - - - Germline/De novo (untested) - - - 0 - DNA DHPLC Blood exon from 2 to 23 SOTOS - - - M ? Italy white - 0 - - 1 Domenico Coviello
?/. - c.1021A>G r.(?) p.(Ile341Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.1086_1089del r.(?) p.(Gln363Thrfs*55) Unknown - likely pathogenic g.176631143_176631146del - - - NSD1_000313 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
?/+ 4 c.1091A>G r.(?) p.(Tyr364Cys) Unknown - VUS g.176631148A>G g.177204147A>G - - NSD1_000059 de novo, in patient - - - De novo - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 Johan den Dunnen
+?/. 4 c.1107del r.(?) p.(Phe369Leufs*50) Unknown - likely pathogenic g.176631164del - - - NSD1_000314 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
+/. 4 c.1171del r.(?) p.(Gln391AsnfsTer28) Unknown - pathogenic g.176631228del g.177204227del - - NSD1_000008 de novo, in patient PubMed: Douglas 2003 - - De novo - - - 0 - DNA CSGE - - SOTOS - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.1183C>T r.(?) p.(Leu395=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1216_1219del r.(?) p.(Glu406Lysfs*12) Unknown - likely pathogenic g.176631273_176631276del - - - NSD1_000315 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - F no Italy white - 0 - - 1 Domenico Coviello
+?/. 4 c.1222_1223insAA r.(?) p.(Gly408Glufs*12) Unknown - pathogenic g.176631279_176631280insAA - - - NSD1_000316 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - F no Italy white - 0 - - 1 Domenico Coviello
?/. 4 c.1236G>A r.(?) p.(=) Unknown - VUS g.176631293G>A - - - NSD1_000349 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
?/. 4i c.1236+2T>G r.spl p.? Unknown - likely pathogenic (dominant) g.176631295T>G - - - NSD1_000380 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - twins M - Italy white - 0 - - 1 Domenico Coviello
?/. 4 c.1236+2T>G r.spl p.? Unknown - likely pathogenic g.176631295T>G - - - NSD1_000380 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
-/. - c.1236+9C>T r.(=) p.(=) Unknown - benign g.176631302C>T g.177204301C>T NSD1(NM_022455.4):c.1236+9C>T - NSD1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4i_5i c.(1236+1_1237-1)_(3796+1_3797-1)del r.? p.? Unknown - pathogenic g.(?_176636637)_(176639196_?)del - chr5:176636637-?_176639196+?del - NSD1_000406 - 0 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5906 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. 5 c.1288C>T r.(?) p.(Gln430*) Unknown - pathogenic (dominant) g.176636688C>T g.177209687C>T - - NSD1_000247 - - ClinVar-RCV000296990.1 - De novo - - - 0 - DNA DHPLC Blood - SOTOS1 - - - F yes Italy white - 0 - - 1 Domenico Coviello
+/. 5 c.1310C>G r.(?) p.(Ser437*) Unknown - pathogenic g.176636710C>G g.177209709C>G - - NSD1_000004 - PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0002 - - De novo - - - 0 - DNA SEQ - - SOTOS - PubMed: Kurotaki 2002, PubMed: Nagai 2003, OMIM:var0002 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 5 c.1318C>T r.(?) p.(Arg440Ter) Unknown - pathogenic g.176636718C>T g.177209717C>T - - NSD1_000407 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-453 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+?/. 5 c.1447del r.(?) p.(Ser483Leufs*29) Unknown - likely pathogenic g.176636847del - - - NSD1_000317 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
+?/. 5 c.1482C>A r.(?) p.(Cys494*) Unknown - pathogenic g.176636882C>A - - - NSD1_000412 - - - - Germline - - - - - DNA SEQ-NG blood - SOTOS1 - - - M no (Italy) white - - - - 1 Domenico Coviello
-/. 5 c.1482C>T r.(?) p.(Cys494Cys) Unknown - benign g.176636882C>T g.177209881C>T - - NSD1_000069 - - - - Germline - - - 0 - DNA SEQ - - ? - in dbSNP - - - Germany - - 0 - - 1 Birgit Neitzel
-/. - c.1482C>T r.(?) p.(Cys494=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1482C>T r.(?) p.(Cys494=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1482C>T r.(?) p.(Cys494=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.1492C>T r.(?) p.(Arg498*) Unknown ACMG pathogenic g.176636892C>T g.177209891C>T - - NSD1_000021 - PubMed: Trujillano 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - SOTOS1 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - 1 Daniel Trujillano
+/. 5 c.1492C>T r.(?) p.(R498*) Unknown - pathogenic g.176636892C>T g.177209891C>T - - NSD1_000021 - PubMed: Douglas 2003 - - Germline - - - 0 - DNA CSGE - - SOTOS - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.1515T>C r.(?) p.(Asn505=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.1527del r.(?) p.(Ser510Valfs*2) Unknown - likely pathogenic (dominant) g.176569533del g.177209926del - - NSD1_000235 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. - - - De novo - - - 0 - DNA HPLC Blood - SOTOS1 - - - M - Italy white - 0 - - 1 Domenico Coviello
-/. 5 c.1558G>A r.(?) p.(Ala502Thr) Unknown - benign g.176636958G>A g.177209957G>A - - NSD1_000070 - - - - Germline - - - 0 - DNA SEQ - - ? - - brother, who stutters since 2y and suffers from allergic asthma; cousin mothers line amily suffers from epilepsy - - Germany - - 0 - - 1 Birgit Neitzel
+?/. 5 c.1576del r.(?) p.(Arg526Glyfs*10) Unknown - likely pathogenic g.176636976del - - - NSD1_000318 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - F - Italy white - 0 - - 1 Domenico Coviello
?/. 5 c.1601G>T r.(?) p.(Gly534Val) Unknown - VUS g.176637001G>T - - - NSD1_000350 - - - - Unknown - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
+?/. 5 c.1633del r.(?) p.(Thr545Argfs*10) Unknown - pathogenic g.176637033del - 1633delA - NSD1_000319 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - F no Italy white - 0 - - 1 Domenico Coviello
+?/. 5 c.1662_1663delinsC r.(?) p.(Ala555Glnfs*44) Unknown - likely pathogenic g.176637062_176637063delinsC - - - NSD1_000351 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - M no Italy white - 0 - - 1 Domenico Coviello
+?/. 6 c.1667_1685del r.(?) p.(Asn556Thrfs*37) Unknown - likely pathogenic g.176637067_176637085del - - - NSD1_000320 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - F no Italy white - 0 - - 1 Domenico Coviello
-?/. - c.1685A>C r.(?) p.(Asn562Thr) Unknown - likely benign g.176637085A>C - NSD1(NM_022455.4):c.1685A>C (p.(Asn562Thr)) - NSD1_000419 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1690G>T r.(?) p.(Ala564Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.1727del r.(?) p.(Asn576ThrfsTer23) Unknown - pathogenic g.176637127del g.177210126del - - NSD1_000009 - PubMed: Douglas 2003 - - Germline - - - 0 - DNA CSGE - - SOTOS - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 5 c.1743del r.(?) p.(Glu581Aspfs*18) Unknown - pathogenic g.176637143del g.177210142del 1742delA fsX - NSD1_000093 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Birgit Neitzel
-/. 5 c.1749G>A r.(?) p.(=) Unknown - benign g.176637149G>A g.177210148G>A - - NSD1_000039 - PubMed: Douglas 2003 - - Germline - - - 0 - DNA CSGE - - Healthy/Control - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.1749G>A r.(?) p.(Glu583=) Unknown - benign g.176637149G>A g.177210148G>A NSD1(NM_022455.4):c.1749G>A (p.E583=) - NSD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1749G>A r.(?) p.(Glu583=) Unknown - benign g.176637149G>A g.177210148G>A NSD1(NM_022455.4):c.1749G>A (p.E583=) - NSD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 5 c.1763A>C r.(?) p.(Asp588Ala) Unknown - benign g.176637163A>C g.177210162A>C - - NSD1_000068 - - - - Germline - - - 0 - DNA SEQ - - SOTOS - - - - - - - - 0 - - 1 Martine van Belzen
-/. 5 c.1792T>C r.(?) p.(=) Unknown - benign g.176637192T>C g.177210191T>C - - NSD1_000040 - PubMed: Douglas 2003 - - Germline - - - 0 - DNA CSGE - - Healthy/Control - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. 5 c.1792T>C r.(?) p.(Leu598Leu) Unknown - benign g.176637192T>C g.177210191T>C - - NSD1_000040 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Birgit Neitzel
+/. - c.1801A>T r.(?) p.(Lys601Ter) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1810C>T r.(?) p.(R604*) Unknown - pathogenic g.176637210C>T g.177210209C>T - - NSD1_000022 de novo, in patient PubMed: Douglas 2003 - - De novo - - - 0 - DNA CSGE - - SOTOS - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/+ 5 c.1810C>T r.(?) p.(R604*) Unknown - pathogenic g.176637210C>T g.177210209C>T - - NSD1_000022 - - - - Germline - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 Martine van Belzen
+/. 5 c.1810C>T r.(?) p.(R604*) Unknown - pathogenic g.176637210C>T g.177210209C>T - - NSD1_000022 - PubMed: Douglas 2003 - - Germline - - - 0 - DNA CSGE - - SOTOS - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.1811G>T r.(?) p.(Arg604Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1824del r.(?) p.(Lys608Asnfs*12) Unknown - likely pathogenic (dominant) g.176637224del g.177210223del NM_022455.4:c.1824delA:p.(Lys608Asnfs*12) - NSD1_000398 - PubMed: Maddirevula 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG0664 PubMed: Maddirevula 2018 isolated case F no - - - 0 - - 1 LOVD
+/. - c.1831C>T r.(?) p.(Arg611*) Unknown ACMG pathogenic g.176637231C>T g.177210230C>T - - NSD1_000389 - PubMed: Faundes 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? 270118 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
-/. 5 c.1840G>T r.(?) p.(V614L) Unknown - benign g.176637240G>T g.177210239G>T - - NSD1_000041 - PubMed: Douglas 2003 - - Germline - - - 0 - DNA CSGE - - Healthy/Control - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.1840G>T r.(?) p.(Val614Leu) Unknown - benign g.176637240G>T g.177210239G>T NSD1(NM_022455.4):c.1840G>T (p.V614L) - NSD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1840G>T r.(?) p.(Val614Leu) Unknown - benign g.176637240G>T g.177210239G>T NSD1(NM_022455.4):c.1840G>T (p.V614L) - NSD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1845_1846del r.(?) p.(Cys615Trpfs*13) Unknown ACMG pathogenic g.176637245_176637246del g.177210244_177210245del 1840_1841delGT - NSD1_000390 - PubMed: Faundes 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? 272559 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.1855del r.(?) p.(Val619Ter) Unknown - pathogenic g.176637255del g.177210254del - - NSD1_000408 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5998 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. - c.1893del r.(?) p.(Lys631Asnfs*22) Unknown - likely pathogenic (dominant) g.176637293del g.177210292del NM_022455.4:c.1893delG:p.(Lys631Asnfs*22) - NSD1_000399 - PubMed: Maddirevula 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG2136 PubMed: Maddirevula 2018 isolated case M no - Arab - 0 - - 1 LOVD
-?/. - c.1951C>T r.(?) p.(Pro651Ser) Unknown - likely benign g.176637351C>T - NSD1(NM_022455.4):c.1951C>T (p.P651S) - NSD1_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1980C>T r.(?) p.(Asn660=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.1981_1982del r.(?) p.(Ser661Cysfs*3) Unknown - likely pathogenic g.176637381_176637382del - - - NSD1_000321 - - - - De novo - - - 0 - DNA DHPLC blood - SOTOS1 - - - F no Italy white - 0 - - 1 Domenico Coviello
?/. - c.1982G>A r.(?) p.(Ser661Asn) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2007_2013del r.(?) p.(Phe669LeufsTer14) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2031T>G r.(?) p.(Ser677=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 5 c.2032A>G r.(?) p.(Met678Val) Unknown - VUS g.176637432A>G g.177210431A>G - - NSD1_000076 unclassified variant - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Birgit Neitzel
+/+ 5 c.2042dup r.(?) p.(Asn681fs) Unknown - pathogenic g.176637442dup g.177210441dup - - NSD1_000062 stopcodon after 2 AA - - - Germline - - - 0 - DNA SEQ - - ? - - - F - Denmark - - 0 - - 1 Martine van Belzen
+/. - c.2058T>A r.(?) p.(Tyr686*) Unknown - likely pathogenic (dominant) g.176637458T>A g.177210457T>A NM_022455.4:c.2058T>A:p.(Tyr686*) - NSD1_000400 - PubMed: Maddirevula 2018 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 08DG-00226 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
+/. - c.2058T>A r.(?) p.(Tyr686*) Parent #1 ACMG pathogenic g.176637458T>A g.177210457T>A - - NSD1_000400 ACMG PVS1, PS2 PubMed: Anazi 2017 - - De novo - - - 0 - DNA SEQ-NG - WES ID 08DG-00226 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - 0 - - 1 Johan den Dunnen
-/. 5 c.2071G>A r.(?) p.(A691T) Unknown - benign g.176637471G>A g.177210470G>A - - NSD1_000042 - PubMed: Douglas 2003 - - Germline - - - 0 - DNA CSGE - - Healthy/Control - PubMed: Douglas 2003 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. 5 c.2071G>A r.(?) p.(Ala691Thr) Unknown - benign g.176637471G>A g.177210470G>A - - NSD1_000042 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Birgit Neitzel
-/. 5 c.2071G>A r.(?) p.(Ala691Thr) Unknown - benign g.176637471G>A g.177210470G>A - - NSD1_000042 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Birgit Neitzel
-/. - c.2071G>A r.(?) p.(Ala691Thr) Unknown - benign g.176637471G>A g.177210470G>A NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr)) - NSD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2071G>A r.(?) p.(Ala691Thr) Unknown - benign g.176637471G>A g.177210470G>A NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr)) - NSD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2071G>A r.(?) p.(Ala691Thr) Unknown - likely benign g.176637471G>A g.177210470G>A NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr)) - NSD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2071G>A r.(?) p.(Ala691Thr) Unknown - benign g.176637471G>A g.177210470G>A NSD1(NM_022455.4):c.2071G>A (p.A691T, p.(Ala691Thr)) - NSD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2071G>A r.(?) p.(Ala691Thr) Parent #1 - likely benign g.176637471G>A g.177210470G>A - - NSD1_000042 131 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28932177 Germline - 131/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 131 Mohammed Faruq
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