Full data view for gene FANCD2

Information The variants shown are described using the NM_001018115.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     
Exon     
AscendingDNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
Allele     
DNA change (genomic) (hg38)     
Reference     
DB-ID     
dbSNP ID     
Variant remarks     
Template     
Technique     
Date of test     
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Type of test     
Disease     
Ethnic origin     
Reference     
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Panel size     
Owner     
?/? 3 c.74A>G p.(Lys25Arg) Hetero no r.? - Unknown g.10032841A>G - FANCD2_000003 - - DNA SEQ-NG 10-sep-2024 Dasa Genómica - Genia Hereditary Cancer Panel (GeneOne) (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 Polyposis Spanish/Italian - - Polyposis 1 Maria Laura Gonzalez-Hospital Italiano
?/? 15 c.1225T>C p.(Ser409Pro) Hetero no r.? - Unknown g.10046670T>C - FANCD2_000001 - - DNA SEQ-NG 23-01-23 Dasa Genómica - Genia Hereditary cancer panel (144 genes) Multigenetic panel Colon cancer Spanish – Spanish - - Colon cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 15 c.1265C>G p.(Ser422Cys) Hetero no r.? - Unknown g.10046710C>G - FANCD2_000006 - - DNA SEQ-NG 8-Jan-2025 Hospital Privado Centro Médico de Córdoba APC, CDK4, FLCN, NF2, RAD51D, ATM, CDKN2A, KIT, PALB2, RB1, BARD1, CHEK2, MEN1, PMS1, RET, BMPR1A, DICER1, MLH1, PMS2, SDHB, BRCA1, EPCAM, MSH2, POLD1, SDHD, BRCA2, FANCA, FANCC, MSH6, POLE, SMAD4, BRIP1, FANCG, MUTYH, PTEN, STK11, CDC73, FANCD2, NBN, RAD50, TP53, CDH1, FANCM, NF1, RAD51C, VHL Multigenetic panel Breast cancer, Intestinal leiomyosarcoma Unknown - - Breast cancer, Ovarian cancer 1 Virginia Miretti-Hospital de Córdoba
?/? 19 c.1757C>T p.Ala586Val Hetero no r.? - Unknown g.10060394C>T - chr3_000002 - - DNA SEQ-NG 11-apr-2022 Genda AIP, ALK, ANKRD26, APC, ATM, AXIN2, BAP1, BARD1, BLM,BMPR1A*, BRAF*, BRCA1*, BRCA2, BRIP1, BUB1B, CBL, CD70, CDC73, CDH1, CDK4, CDK6, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2*, CTNNA1, 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, MC1R, MEN1, MET, MITF, MLH1, MLH3, MRE11A, MSH2, MSH3, MSH6, MUTYH, MYCN, NBN, NF1*, NF2, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA#, PHOX2B, PMS1#, PMS2*, POLD1, POLE, POLH*, POT1, PPM1D, PRF1, PRKAR1A, PTCH1, PTCH2, 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, SMO, SOS1, SOS2, SPRED1, SRP72*, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, VHL, WRN*, WT1, XPA, XPC, XRCC2. Multigenetic panel Medulloblastoma, Melanoma Italian / Italian - - Medulloblastoma, Melanoma 1 Marcela Lopez - Instituto Donna
?/? 30 c.2872G>A p.(Val958Met) Hetero no r.? - Unknown g.10078093G>A - FANCD2_000004 rs372574627 - DNA SEQ-NG 21-aug-2024 Hospital Italiano de Buenos Aires Hereditary Cancer panel (105 genes) AIP, ALK, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CYLD, DDB2, DICER1, DIS3L2, EGFR, EPCAM, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GATA2, GNAS, GPC3, HNF1A, HRAS, KIT, MAX, MEN1, MET, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NSD1, PALB2, PDE4D, PHOX2B, PMS1, PMS2, POLD1, POLE, PPM1D, PRF1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCB1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC Multigenetic panel Breast cancer Basque/Spanish - Syrian/Native argentinian - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
?/? 31 c.2989C>T p.(Arg997Trp) Hetero no r.? - Unknown g.10081112C>T - FANCD2_000002 rs587778330 - DNA SEQ-NG 25-jan-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 Kidney cancer Italian - Italian - - Kidney cancer, Bladder cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 33 c.3278T>A p.Val1093Asp Hetero no r.? - Unknown g.10085865T>A - chr3_000003 - - DNA SEQ-NG 8-May-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD AIP AKT1 APC ATM BAP1 BARD1 BLM BMPR1A BRCA1 BRCA2 BRIP1 CASR CDC73 CDH1 CDK4 CDKN1B CDKN2A CHEK2 CTRC DICER1 DIS3L2 EPCAM 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 MSH2 MSH3 MSH6 MUTYH NBN NF1 NF2 NSD1 NTHL1 PALB2 PDGFRA PHOX2B PIK3CA PMS2 POLD1 POLE POT1 PRKAR1A PTCH1 PTEN RAD50 RAD51B RAD51C RAD51D RB1 RET RHBDF2 RINT1 RUNX1 SDHA SDHAF2 SDHB SDHC SDHD SLX4 SMAD4 SMARCA4 SMARCB1 SMARCE1 SPRED1 STK11 SUFU TERF2IP TERT TMEM127 TP53 TSC1 TSC2 VHL WT1 XPA XPC XRCC2 Multigenetic panel Adrenocortical carcinoma Argentinean, Paraguayan, Italian - - Adrenocortical carcinoma 1 Luisina Bruno-Instituto Fleming
+/+ 38 c.3803G>A p.(Trp1268Ter) Hetero no r.? - Unknown g.10092206G>A - FANCD2_000005 - - DNA SEQ-NG 01-nov-2023 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS 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, Renal Cell cancer Spanish/spanish - - Breast cancer, Renal cell cancer 1 Marcela Lopez - Instituto Donna
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