Full data view for gene WHSC1

Gene name changed to NSD2
Information The variants shown are described using the NM_001042424.2 transcript reference sequence.

125 entries on 2 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     
+/. _1_22_ c.-176_*3298{0} r.0 p.0 Unknown - pathogenic g.pter_(5046327_6000000)delins[chr7:(155100001_155203283)_qterinv] - - 46,XY.ish der(4;7)(p16.3;q36.3)(WHS-;TelVysion7q+) arr[GRCh37] 4p16.3p16.2(68808_5046327)x1, 7q36(155203283_159119708)x3 WHSC1_000001 unbalanced translocation, 4.9 Mb deletion (4p16.3) comprising the Wolf–Hirschhorn region with 77 genes PubMed: Sachwitz 2016, for EUCID-SRS consortium - - Germline - - - - normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR, multilocus DNA arrayCNV - - ?, SRS;RSS 27172843-PatSR-KL PubMed: Sachwitz 2016, for EUCID-SRS consortium - M - - - - - - - 1 Zeynep Tümer
+/. _1_22_ c.-176_*3298{0} r.0? p.0? Unknown - pathogenic g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. _1_18_ c.(?_-30+2016)_(3255+505_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_1875285)_(1961972_?)del - hg19 1,875,285-1,961,972del - WHSC1_000040 - PubMed: Bernardini 2018 - - De novo - - - - - DNA arrayCGH - - NDD Pat2 PubMed: Bernardini 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - 1 Johan den Dunnen
-?/. - c.-29-6414C>T r.(=) p.(=) Unknown - likely benign g.1895939C>T - NSD2(NM_001042424.3):c.-29-6414C>T - WHSC1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29-6378C>T r.(=) p.(=) Unknown - likely benign g.1895975C>T - NSD2(NM_001042424.3):c.-29-6378C>T - WHSC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(?-1800852)_(*1230379_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_72447)_(3211015_?)del g.(?_70720)_(3209288_?)del - arr[hg19] 4p16.3p15.2 (72,447- 23,211,015)x1 WHSC1_000103 - PubMed: Ernst 2022 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ, SEQ-NG - 59-gene panel ? Pat10 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - Middle-East - - - - 1 Johan den Dunnen
+/. _10_22_ c.(?_1881+2806)_*3298{0} r.? p.? Unknown - pathogenic (dominant) g.(?_1944311)_(2110334_?)del - hg19 1,944,311–2,110,334 - WHSC1_000039 - PubMed: Bernardini 2018 - - De novo - - - - - DNA arrayCGH - - NDD Pat1 PubMed: Bernardini 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
+/. _1_6_ c.-176_(1556-1103_?){0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_1867304)_(1935768_?)del - hg19 1,867,304–1,935,768del - WHSC1_000041 - PubMed: Bernardini 2018 - - De novo - - - - - DNA arraySNP - - NDD Pat3 PubMed: Bernardini 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
-?/. - c.11G>A r.(?) p.(Ser4Asn) Unknown - likely benign g.1902392G>A - NSD2(NM_133330.3):c.11G>A (p.S4N) - WHSC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293T>G r.(?) p.(Leu98Arg) Unknown - VUS g.1902674T>G - WHSC1(NM_001042424.2):c.293T>G (p.(Leu98Arg)) - WHSC1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362C>G r.(?) p.(Ser121Cys) Unknown - VUS g.1902743C>G g.1901016C>G NSD2(NM_133334.2):c.362C>G (p.S121C) - WHSC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383_385dup r.(?) p.(Ile128dup) Unknown - VUS g.1902764_1902766dup g.1901037_1901039dup NSD2(NM_133334.2):c.383_385dupTCA (p.I128dup) - WHSC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393A>G r.(?) p.(=) Unknown - likely benign g.1902774A>G - NSD2(NM_001042424.3):c.393A>G (p.(Thr131=)) - WHSC1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.452T>C r.(?) p.(Val151Ala) Unknown - likely benign g.1902833T>C - NSD2(NM_001042424.3):c.452T>C (p.(Val151Ala)) - WHSC1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.541C>T r.(?) p.(Gln181Ter) Unknown - VUS g.1902922C>T g.1901195C>T WHSC1(NM_133334.2):c.541C>T (p.Q181*) - WHSC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.642dup r.(?) p.(Asp215Argfs*10) Unknown - pathogenic g.1905987dup - WHSC1(NM_133330.2):c.642dup (p.(Asp215ArgfsTer10)) - WHSC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.660C>G r.(?) p.(Tyr220Ter) Unknown - pathogenic g.1906005C>G g.1904278C>G - - WHSC1_000102 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.708G>A r.(?) p.(Trp236*) Unknown - pathogenic (dominant) g.1906053G>A g.1904326G>A - - WHSC1_000024 - PubMed: Barrie 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Barrie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.755T>A r.(?) p.(Leu252His) Unknown - VUS g.1906100T>A - WHSC1(NM_001042424.2):c.755T>A (p.(Leu252His)) - WHSC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.793C>T r.(?) p.(Gln265*) Unknown - pathogenic (dominant) g.1918630C>T g.1916903C>T - - WHSC1_000026 - PubMed: Barrie 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat3 PubMed: Barrie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.808G>A r.(?) p.(Ala270Thr) Unknown - VUS g.1918645G>A - NSD2(NM_001042424.3):c.808G>A (p.(Ala270Thr)) - WHSC1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.884A>T r.(?) p.(Gln295Leu) Unknown - VUS g.1918721A>T - NSD2(NM_133330.3):c.884A>T (p.Q295L), WHSC1(NM_001042424.2):c.884A>T (p.(Gln295Leu)) - WHSC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.884A>T r.(?) p.(Gln295Leu) Unknown - likely benign g.1918721A>T - NSD2(NM_133330.3):c.884A>T (p.Q295L), WHSC1(NM_001042424.2):c.884A>T (p.(Gln295Leu)) - WHSC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908C>T r.(?) p.(Thr303Met) Unknown - VUS g.1918745C>T - NSD2(NM_133330.3):c.908C>T (p.T303M) - WHSC1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.928-6dup r.(=) p.(=) Unknown - likely benign g.1919862dup - NSD2(NM_001042424.3):c.928-6dup - WHSC1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.957G>T r.957g>u p.(Arg319Ser) Unknown - likely pathogenic (dominant) g.1919897G>T g.1918170G>T - - WHSC1_000017 - PubMed: Lee 2019 ClinVar-000930580.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG muscle, fibroblast WES ? Pat7 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1081A>C r.(?) p.(Lys361Gln) Unknown - likely benign g.1920021A>C - WHSC1(NM_001042424.2):c.1081A>C (p.(Lys361Gln)) - WHSC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1103_1104del r.(?) p.(Glu368Valfs*13) Unknown ACMG pathogenic (dominant) g.1920043_1920044del g.1918316_1918317del - - WHSC1_000037 ACMG: PVS1, PM6, PS4_SUP, PM2_SUP PMID:33941880 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I Blood WES WHS 202490 - - F - Germany - - - - - 1 Andreas Laner
+/. - c.1103_1104del r.(?) p.(Glu368ValfsTer13) Unknown ACMG pathogenic (dominant) g.1920043_1920044del g.1918316_1918317del - - WHSC1_000037 ACMG PVS1, PS2, PM2 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no - white - - - - 1 Johan den Dunnen
-?/. - c.1210A>G r.(?) p.(Lys404Glu) Unknown - likely benign g.1920150A>G - WHSC1(NM_001042424.2):c.1210A>G (p.(Lys404Glu)) - WHSC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1222_1226del r.(?) p.(Ser408ArgfsTer21) Unknown - likely pathogenic g.1920162_1920166del g.1918435_1918439del - - WHSC1_000029 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.1249G>A r.(?) p.(Asp417Asn) Unknown - likely benign g.1920189G>A - WHSC1(NM_001042424.2):c.1249G>A (p.(Asp417Asn)) - WHSC1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1330A>G r.(?) p.(Thr444Ala) Unknown - likely benign g.1920270A>G - WHSC1(NM_001042424.2):c.1330A>G (p.(Thr444Ala)) - WHSC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1363_1364dup r.(?) p.(Asp455Glufs*19) Unknown - pathogenic (dominant) g.1920303_1920304dup g.1918576_1918577dup - - WHSC1_000038 - PubMed: Cueto-Gonzalez 2022 ClinVar-SCV001821527 - De novo - - - - - DNA SEQ-NG - - NDD patient PubMed: Cueto-Gonzalez 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - 1 Johan den Dunnen
-?/. - c.1366G>C r.(?) p.(Ala456Pro) Unknown - likely benign g.1920306G>C - WHSC1(NM_001042424.2):c.1366G>C (p.(Ala456Pro)) - WHSC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411-4144T>G r.(=) p.(=) Unknown - likely benign g.1928209T>G - NSD2(NM_001042424.3):c.1411-4144T>G - WHSC1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1411-6C>T r.(=) p.(=) Unknown - likely benign g.1932347C>T - WHSC1(NM_001042424.2):c.1411-6C>T (p.(=)) - WHSC1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1423C>T r.(?) p.(His475Tyr) Unknown - VUS g.1932365C>T - NSD2(NM_001042424.3):c.1423C>T (p.(His475Tyr)) - WHSC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1469dup r.(?) p.(Trp491Valfs*6) Unknown - pathogenic g.1932411dup - - - WHSC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1555+1700G>T r.(=) p.(=) Unknown - likely benign g.1934197G>T - NSD2(NM_001042424.3):c.1555+1700G>T - WHSC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1569dup r.(?) p.(Lys524Glufs*17) Unknown - pathogenic (dominant) g.1936884dup g.1935157dup 1569dupG - WHSC1_000025 - PubMed: Barrie 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Barrie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.1569dup r.(?) p.(Lys524GlufsTer17) Unknown ACMG pathogenic (dominant) g.1936884dup g.1935157dup - - WHSC1_000025 ACMG PVS1, PS2, PM2 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - 1 Johan den Dunnen
+/. - c.1577dup r.(?) p.(Asn527Lysfs*14) Unknown - pathogenic (dominant) g.1936892dup - 1577dupG - WHSC1_000019 - PubMed: Hu 2020 - - De novo - - - - - DNA SEQ - - ? FamPatII1 PubMed: Hu 2020 3-generation family, affected father/daughter M - China - - - - - 2 Johan den Dunnen
+/. - c.1577dup r.(?) p.(Asn527Lysfs*14) Paternal (confirmed) - pathogenic (dominant) g.1936892dup g.1935165dup 1577dupG - WHSC1_000019 - PubMed: Hu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatIII1 PubMed: Hu 2020 daughter F - China - - - - - 1 Johan den Dunnen
-?/. - c.1585A>C r.(?) p.(Thr529Pro) Unknown - likely benign g.1936900A>C - WHSC1(NM_001042424.2):c.1585A>C (p.(Thr529Pro)) - WHSC1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1588_1589dup r.(?) p.(Ile532GlyfsTer67) Unknown ACMG likely pathogenic (dominant) g.1936903_1936904dup g.1935176_1935177dup 1588_1589dupAA - WHSC1_000042 ACMG PVS1, PM2 PubMed: Zanoni 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4-I PubMed: Zanoni 2021 adopted M - Bulgaria white - - - - 1 Johan den Dunnen
?/. - c.1675-19_1675-10del r.(=) p.(=) Unknown - VUS g.1940159_1940168del - NSD2(NM_001042424.3):c.1675-19_1675-10del - WHSC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1675-11_1675-10del r.(=) p.(=) Unknown - likely benign g.1940167_1940168del - NSD2(NM_001042424.3):c.1675-11_1675-10del - WHSC1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1675-10T>A r.(=) p.(=) Unknown - likely benign g.1940168T>A - NSD2(NM_001042424.3):c.1675-10T>A - WHSC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1676_1679del r.(?) p.(Arg559ThrfsTer38) Unknown - pathogenic g.1940179_1940182del g.1938452_1938455del NSD2(NM_133334.2):c.1675-2_1676delAGAG - WHSC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1676_1679del r.(?) p.(Arg559Thrfs*38) Unknown - pathogenic (dominant) g.1940179_1940182del g.1938452_1938455del - - WHSC1_000012 - PubMed: Boczek 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Boczek 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.1757-1G>T r.spl? p.? Unknown - VUS g.1941380G>T - - - WHSC1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1780T>C r.(?) p.(Cys594Arg) Unknown - VUS g.1941404T>C - NSD2(NM_001042424.3):c.1780T>C (p.(Cys594Arg)) - WHSC1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1798C>T r.(?) p.(Arg600Ter) Unknown ACMG pathogenic (dominant) g.1941422C>T g.1939695C>T - - WHSC1_000043 ACMG PVS1, PS2, PM2 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat14-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no - white - - - - 1 Johan den Dunnen
-?/. - c.1882-4C>G r.spl? p.? Unknown - likely benign g.1952795C>G - NSD2(NM_001042424.3):c.1882-4C>G - WHSC1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1890_1913dup r.(?) p.(Asp630_Ser637dup) Unknown - VUS g.1952807_1952830dup - NSD2(NM_001042424.3):c.1890_1913dup (p.(Asp630_Ser637dup)) - WHSC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1902C>T r.(?) p.(=) Unknown - likely benign g.1952819C>T - NSD2(NM_133330.3):c.1902C>T (p.D634=) - WHSC1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1994A>G r.(?) p.(Lys665Arg) Unknown - likely benign g.1952911A>G - NSD2(NM_001042424.3):c.1994A>G (p.(Lys665Arg)) - WHSC1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2027C>T r.(?) p.(Pro676Leu) Unknown - VUS g.1953848C>T - NSD2(NM_001042424.3):c.2027C>T (p.(Pro676Leu)) - WHSC1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2102C>T r.(?) p.(Pro701Leu) Unknown - VUS g.1953923C>T - NSD2(NM_133330.3):c.2102C>T (p.P701L) - WHSC1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2127G>C r.(?) p.(Glu709Asp) Unknown - VUS g.1953948G>C - NSD2(NM_001042424.3):c.2127G>C (p.(Glu709Asp)) - WHSC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2137+2C>G r.spl? p.? Unknown - pathogenic g.1953960C>G - NSD2(NM_133330.2):c.2137+2C>G - WHSC1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2138-106A>G r.(=) p.(=) Unknown - benign g.1954945A>G g.1953218A>G NSD2(NM_133330.3):c.2138-106A>G - WHSC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2160T>A r.(?) p.(Cys720Ter) Unknown - VUS g.1955073T>A g.1953346T>A - - WHSC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2160T>A r.(?) p.(Cys720Ter) Unknown ACMG pathogenic (dominant) g.1955073T>A g.1953346T>A - - WHSC1_000007 ACMG PVS1, PS2, PM2 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat9-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no - white - - - - 1 Johan den Dunnen
-?/. - c.2179G>C r.(?) p.(Val727Leu) Unknown - likely benign g.1955092G>C - NSD2(NM_001042424.3):c.2179G>C (p.(Val727Leu)) - WHSC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2263C>T r.(?) p.(Arg755Ter) Unknown - likely pathogenic g.1955176C>T g.1953449C>T NSD2(NM_133330.3):c.2263C>T (p.R755*) - WHSC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2263C>T r.(?) p.(Arg755Ter) Unknown ACMG pathogenic (dominant) g.1955176C>T g.1953449C>T - - WHSC1_000008 ACMG PVS1, PS2, PM2 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat16-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - 1 Johan den Dunnen
-?/. - c.2339-629dup r.(=) p.(=) Unknown - likely benign g.1956259dup - NSD2(NM_001042424.3):c.2339-629dup - WHSC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2423C>G r.(?) p.(Ser808Cys) Unknown - likely benign g.1956972C>G - NSD2(NM_001042424.3):c.2423C>G (p.(Ser808Cys)) - WHSC1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2518+1G>A r.spl p.? Unknown - pathogenic (dominant) g.1957068G>A g.1955341G>A - - WHSC1_000021 - PubMed: Derar 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat1 PubMed: Derar 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.2543C>G r.(?) p.(Ser848Cys) Unknown - VUS g.1957444C>G - NSD2(NM_001042424.3):c.2543C>G (p.(Ser848Cys)) - WHSC1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2606G>A r.(?) p.(Cys869Tyr) Unknown ACMG likely pathogenic (dominant) g.1957507G>A g.1955780G>A - - WHSC1_000044 ACMG PS2, PM2, PP3, BP1 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat1-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - 1 Johan den Dunnen
+?/. - c.2661del r.(?) p.(Lys887Asnfs*25) Unknown - likely pathogenic g.1957562del - WHSC1(NM_001042424.2):c.2661delA (p.(Lys887Asnfs*25)) - WHSC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2684C>T r.(?) p.(Pro895Leu) Maternal (confirmed) ACMG likely pathogenic (dominant) g.1957718C>T g.1955991C>T - - WHSC1_000045 ACMG PS3, PP1-M, PM2, PP3, BP1 PubMed: Zanoni 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat7-I PubMed: Zanoni 2021 2-generation family, affected mother/daughter/son F no - white - - - - 3 Johan den Dunnen
+?/. - c.2684C>T r.(?) p.(Pro895Leu) Maternal (confirmed) ACMG likely pathogenic (dominant) g.1957718C>T g.1955991C>T - - WHSC1_000045 ACMG PS3, PP1-M, PM2, PP3, BP1 PubMed: Zanoni 2021 - - Germline - - - - - DNA SEQ - - NDD Fam2Pat7-II PubMed: Zanoni 2021 son M no - white - - - - 1 Johan den Dunnen
?/. - c.2792C>T r.(?) p.(Thr931Met) Unknown - VUS g.1957826C>T g.1956099C>T NSD2(NM_133330.3):c.2792C>T (p.T931M) - WHSC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2803C>T r.(?) p.(Arg935*) Unknown - pathogenic (dominant) g.1957837C>T g.1956110C>T - - WHSC1_000022 - PubMed: Derar 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? Pat2 PubMed: Derar 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
-/. - c.2814G>A r.(?) p.(=) Unknown - benign g.1957848G>A - NSD2(NM_133330.3):c.2814G>A (p.P938=) - WHSC1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2882-402G>A r.(=) p.(=) Unknown - likely benign g.1959258G>A - NSD2(NM_001042424.3):c.2882-402G>A - WHSC1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2929G>C r.(?) p.(Glu977Gln) Unknown - VUS g.1959707G>C - NSD2(NM_133330.3):c.2929G>C (p.E977Q) - WHSC1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2929G>C r.(?) p.(Glu977Gln) Unknown - VUS g.1959707G>C - NSD2(NM_133330.3):c.2929G>C (p.E977Q) - WHSC1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2935C>T r.(?) p.(Arg979*) Unknown - likely pathogenic g.1959713C>T - - - WHSC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2973C>A r.(?) p.(Tyr991*) Unknown - pathogenic g.1959751C>A - - - WHSC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3016T>C r.(?) p.(Tyr1006His) Unknown - VUS g.1961228T>C - NSD2(NM_001042424.3):c.3016T>C (p.(Tyr1006His)) - WHSC1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3056A>G r.(?) p.(Lys1019Arg) Unknown ACMG pathogenic (dominant) g.1961268A>G g.1959541A>G - - WHSC1_000046 ACMG PS2, PS3, PM2, BP1 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat12-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - 1 Johan den Dunnen
+?/. - c.3056A>G r.(?) p.(Lys1019Arg) Unknown - likely pathogenic g.1961268A>G - - - WHSC1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3223_3226dup r.(?) p.(Gly1076ValfsTer16) Unknown ACMG pathogenic (dominant) g.1961435_1961438dup g.1959708_1959711dup - - WHSC1_000047 ACMG PVS1, PM2, PM6 PubMed: Zanoni 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3-I PubMed: Zanoni 2021 - F no - white - - - - 1 Johan den Dunnen
+?/. - c.3271G>A r.(?) p.(Glu1091Lys) Unknown ACMG likely pathogenic (dominant) g.1962777G>A g.1961050G>A - - WHSC1_000048 ACMG PS2, PM2, PP3, BP1 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat5-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no Jordan;Syria - - - - - 1 Johan den Dunnen
+/. - c.3295G>A r.(?) p.(Glu1099Lys) Unknown - pathogenic (dominant) g.1962801G>A g.1961074G>A - - WHSC1_000054 - PubMed: Popp 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat1 PubMed: Popp 2022 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.3295G>A r.(?) p.(Glu1099Lys) Unknown - pathogenic (dominant) g.1962801G>A g.1961074G>A - - WHSC1_000054 - PubMed: Popp 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat2 PubMed: Popp 2022 - M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.3351C>G r.(?) p.(Phe1117Leu) Unknown - likely benign g.1962857C>G - WHSC1(NM_001042424.2):c.3351C>G (p.(Phe1117Leu)) - WHSC1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3372+10A>C r.(=) p.(=) Unknown - likely benign g.1962888A>C - NSD2(NM_001042424.3):c.3372+10A>C - WHSC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3372+5306T>C r.(=) p.(=) Unknown - likely benign g.1968184T>C - NSD2(NM_001042424.3):c.3372+5306T>C - WHSC1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3372+5315T>C r.(=) p.(=) Unknown - likely benign g.1968193T>C - NSD2(NM_001042424.3):c.3372+5315T>C - WHSC1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3410C>T r.(?) p.(Ser1137Phe) Unknown ACMG pathogenic (dominant) g.1976627C>T g.1974900C>T - - WHSC1_000049 ACMG PS2, PS3, PM2, PP3, BP1 PubMed: Zanoni 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat10-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - 1 Johan den Dunnen
+/. - c.3412C>T r.(?) p.(Arg1138*) Unknown - pathogenic (dominant) g.1976629C>T g.1974902C>T - - WHSC1_000023 - PubMed: Lozier 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? patient PubMed: Lozier 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Russia - - - - - 1 Johan den Dunnen
?/. - c.3442T>C r.(?) p.(Cys1148Arg) Unknown - VUS g.1976659T>C - NSD2(NM_133330.3):c.3442T>C (p.C1148R) - WHSC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3472dup r.(?) p.(Asp1158GlyfsTer11) Paternal (confirmed) ACMG likely pathogenic (dominant) g.1976689dup g.1974962dup - - WHSC1_000050 ACMG PVS1, PP1, PM2 PubMed: Zanoni 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam1Pat6-I PubMed: Zanoni 2021 3-generation family, 7 affected (3F, 4M) M no - white - - - - 7 Johan den Dunnen
+?/. - c.3472dup r.(?) p.(Asp1158GlyfsTer11) Unknown ACMG likely pathogenic (dominant) g.1976689dup g.1974962dup - - WHSC1_000050 ACMG PVS1, PP1, PM2 PubMed: Zanoni 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam1Pat6-II PubMed: Zanoni 2021 father M no - white - - - - 1 Johan den Dunnen
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