Full data view for gene RAD51C

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

18 entries on 1 page. Showing entries 1 - 18.
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?/? 1 c.-1G>T p.(=) Hetero no r.(=) - Unknown g.58692643G>T - RAD51C_000010 rs750045091 - DNA SEQ-NG 20-dec-2021 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Polyposis, Rectal cancer Spanish/Spanish - - Intestinal polyposis, Rectal cancer 1 Marcela Lopez-CEMAFE
?/? 1 c.3G>A p.(Met1?) Hetero no r.? - Unknown g.58692646G>A - RAD51C_000024 - - DNA SEQ-NG, CNV 11-dec-2023, 6-jan-2026 GENDA, COLOR, CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53, APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 Multigenetic panel Breast cancer, Polyposis Argentinean - - Polyposis 1 Yolanda Isabel Medina - Hospital Juan D. Perón
?/? 1 c.3G>T p.(Met1?) Hetero no r.? - Unknown g.58692646G>T - RAD51C_000014 - - DNA SEQ-NG, CNV 19-jun-2026 CIBIC/Héritas 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 Kidney cancer, Leukemia Italian-Spanish / Spanish - - Breast cancer, Kidney cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 1 c.106G>A p.(Glu36Lys) Hetero no r.(?) - Unknown g.58692749G>A - RAD51C_000020 rs773998134 - DNA SEQ-NG, CNV 18-jun-2024, 05-jan-2026 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2., APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 Multigenetic panel Breast cancer, Ovarian cancer Italian-Spanish-Portuguese - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 2 c.169G>A p.(Ala57Thr) Hetero no r.? - Unknown g.58694954G>A - RAD51C_000001 - - DNA SEQ-NG, CNV 27-dec-2024 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, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Colorectal cancer, Thyroid cancer Italian/Spanish/French - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 2 c.181_182del p.(Leu61Alafs*11) Hetero N/A r.(?) - Unknown g.58694964CT[1] - RAD51C_000025 - - DNA SEQ-NG 01-may-2024 GENDA APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2, FANCA, FANCL Multigenetic panel N/A Lebanese/Italian - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
+/+ 2 c.404G>A p.(Cys135Tyr) Hetero no r.? - Unknown g.58695189G>A - RAD51C_000017 rs767796996 - DNA SEQ-NG, CNV 03-aug-2023 HEMA APC, ATM, BAP1, BMPR1A, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, PMS2, MUTYH, PALB2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Ovarian cancer Creole / Spanish - - Breast cancer, Pancreatic cancer 1 Laura Vargas Roig-IMBECU
+/+ 2 c.404G>A p.(Cys135Tyr) Not specified N/A r.? - Unknown g.58695189G>A - RAD51C_000017 rs767796996 - DNA SEQ 29-apr-2024 IMBECU RAD51C NM_058216.3:c.404G>, A p.(Cys135Tyr) Known familial mutation N/A Creole - - Hereditary Breast and Ovarian cancer syndrome 1 Laura Vargas Roig-IMBECU
+/+ 2 c.404G>A p.(Cys135Tyr) Not specified N/A r.? - Unknown g.58695189G>A - RAD51C_000017 rs767796996 - DNA SEQ 29-apr-2024 IMBECU RAD51C NM_058216.3:c.404G>, A p.(Cys135Tyr) Known familial mutation N/A Creole - - Hereditary Breast and Ovarian cancer syndrome 1 Laura Vargas Roig-IMBECU
+/+ 2 c.404G>A p.(Cys135Tyr) Not specified N/A r.? - Unknown g.58695189G>A - RAD51C_000017 rs767796996 - DNA SEQ 29-apr-2024 IMBECU RAD51C NM_058216.3:c.404G>, A p.(Cys135Tyr) Known familial mutation N/A Creole - - Hereditary Breast and Ovarian cancer syndrome 1 Laura Vargas Roig-IMBECU
+/+ 2 c.404G>A p.(Cys135Tyr) Not specified N/A r.? - Unknown g.58695189G>A - RAD51C_000017 rs767796996 - DNA SEQ 29-apr-2024 IMBECU RAD51C NM_058216.3:c.404G>, A p.(Cys135Tyr) Known familial mutation N/A Creole / Spanish - - Hereditary Breast and Ovarian cancer syndrome 1 Laura Vargas Roig-IMBECU
+/+ 3 c.562_565del p.Lys188GlufsTer50 Hetero no r.? - Unknown g.58696849CAAGG>C - RAD51C_000026 - - DNA SEQ-NG 07-feb-2024 GENOS, Sistemas Genómicos ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3. Multigenetic panel Bilateral Breast cancer, Colon cancer, Colonic Polyposis, Endometrial cancer Armenian - - Breast cancer, Colon cancer, Colonic polyposis 1 Guillermo Alberto-Instituto Fleming
?/? 4 c.589G>A p.(Glu197Lys) Hetero no r.? - Unknown g.58703213G>A - chr17_000048 rs1555597094 - DNA SEQ-NG, CNV 15-jul-2026 Fundación para el Progreso de la Medicina 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 Ovarian cancer Portuguese-Italian / Italian-Italian - - Thyroid nodule under follow-up 1 Norma Rossi - Sanatorio Allende
?/? 5 c.696A>T p.Glu232Asp Hetero no r.(?) - Unknown g.58709849A>T - chr17_000037 - - DNA SEQ-NG, CNV 14-jan-2026 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 Multigenetic panel Breast cancer Spanish, Greek, Italian, Arab - - SCMOH 1 Agostina Tardivo-Instituto Fleming
?/? 5 c.749A>G p.(His250Arg) Hetero BRCA2 r.(?) - Unknown g.58709902A>G - RAD51C_000023 rs1060502597 - DNA SEQ-NG, CNV 30-sep-2024 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, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Pancreatic cancer Italian/Spanish - - Pancreatic cancer 1 Guillermo Alberto-Instituto Fleming
?/? 5 c.779G>C p.Arg260Pro Hetero no r.? - Unknown g.58709932G>C - chr17_000016 - - DNA SEQ-NG 16-jun-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 y XRCC2. Multigenetic panel Urothelial cancer Spanish-Arabian / German - - Urothelial carcinoma 1 Marcela Lopez-CEMAFE
+?/+? 6 c.904+5G>T p.? Hetero no r.spl? - Unknown g.58720817G>T - RAD51C_000021 - - DNA SEQ-NG 08-apr-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 Colon cancer, Ovarian cancer Italian/italian - - Colon cancer, Ovarian cancer 1 Marcela Lopez - Instituto Donna
+?/+? 6i c.905-2_905-1del p.? Hetero no r.spl? - Unknown g.58724038_58724039del - RAD51C_000022 rs587781995 - DNA SEQ-NG 10-apr-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 Gastric cancer Unknown - - Gastric cancer 1 Marcela Lopez-CEMAFE
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