Full data view for gene NSD1

Information The variants shown are described using the NM_022455.5 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     
Exon     
AscendingDNA change (cDNA)     
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Allele     
DNA change (genomic) (hg38)     
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Owner     
?/? 5 c.1646A>C (p.Asn549Thr) Hetero no r.? - Unknown g.177210045A>C - NSD1_000004 - - DNA SEQ-NG 20-Jan-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer panel (NGS) — Gene panel: ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2. Multigenetic panel Breast cancer Spanish - - Breast cancer, Ovarian cancer 1 Andres Rodriguez-Instituto Fleming
?/? 5 c.3056G>A p.Arg1019His Hetero no r.? - Unknown g.177211455G>A - chr5_000014 - - DNA SEQ-NG 19-Jun-2024 Fundación para el Progreso de la Medicina ACD AIP AKT1 APC ATM BAP1 BARD1 BLM CASR CDH1 CDK4 CTRC DICER1 EPCAM ERCC2 ERCC3 FANCA FANCE FANCC FANCD2 FANCG FANCI FANCL FANCM FH FLCN GALNT12 KIT MAX MET MITF MLH1 MUTYH NBN NF1 NF2 NSD1 NTHL1 PIK3CA PMS2 POLE POT1 PTEN RET RUNX1 SDHA SDHC STK11 SUFU TERT TMEM127 TP53 VHL WT1 XPA XPC XRCC2 Multigenetic panel Breast cancer Spanish-Spanish/Spanish-Spanish - - Breast cancer, Endometrial cancer, Lung cancer, Melanoma 1 Norma Rossi - Sanatorio Allende
?/? 5 c.3541G>C p.(Glu1181Gln) Hetero BRIP1 r.? - Unknown g.177211940G>C - NSD1_000003 - - DNA SEQ-NG 10-oct-2024 Dasa Genómica - Genia AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2. Multigenetic panel N/A German/Spanish - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 13 c.4925C>A p.(Thr1642Asn) Hetero no r.? - Unknown g.177257110C>A - NSD1_000002 - - DNA SEQ-NG 15-feb-2023, 21-May-2025 GENDA, Hospital Privado Centro Médico de Córdoba ACD, AIP, AKT1, ALK, ANKRD26, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A*, BRAF*, BRCA1*, BRCA2, BRIP1, BUB1B, CASR, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2*, CTNNA1, CTRC, CYLD, DDB2, DDX41, DICER1*, DIS3L2*, DKC1, EFL1*, EGFR, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B*, FANCA, FANCB, FANCC, FANCD2*, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GPR101, GREM1, HAVCR2, HNF1A, HOXB13, HRAS, IKZF1, KIF1B, KIT, KITLG, KRAS*, LZTR1, MAP2K1, MAP2K2, MAX, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1*, NF2, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA#, PHOX2B, PIK3CA*, PMS1#, PMS2*, POLD1, POLE, POLH*, POT1, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN*, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL*, RECQL4, REST, RET, RHBDF2, RIT1, RPS20, RRAS, RUNX1, SAMD9, SAMD9L, SBDS*, SDHA*, SDHAF2, SDHB, SDHC, SDHD#, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SRP72*, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, VHL, WRN*, WT1, XPA, XPC y XRCC2., ABRAXAS1, ACD, AIP, AKT1, APC, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, IKBKB, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC. Multigenetic panel Renal Cell cancer, Serous ovarian cancer Spanish/italian - - Ovarian cancer 1 Marcela Lopez-CEMAFE
?/? 23 c.6898G>A p.(Ala2300Thr) Hetero no r.? - Unknown g.177294266G>A - NSD1_000001 - - DNA SEQ-NG, CNV 13-may-2024 Dasa Genómica - Genia Hereditary Cancer Panel (144 genes) AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2. Multigenetic panel Bilateral Breast cancer Argentinean - Spanish - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
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