Full data view for gene BLM

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

28 entries on 1 page. Showing entries 1 - 28.
Legend   How to query  

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     
Lab     
Remarks     
Type of test     
Disease     
Ethnic origin     
Reference     
Remarks     
Cuadro familiar     
Panel size     
Owner     
?/? 3 c.11T>C p.Val4Ala Hetero no r.? - Unknown g.90749279T>C - chr15_000001 - - DNA SEQ-NG 22-jul-2025, 13-jun-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 DICER1 EPCAM FANCA FANCC FANCL FANCM FH FLCN GALNT12 GREM1 HOXB13 KIT LZTR1 MAX MEN1 MET MITF MLH1 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 Breast cancer, Colon cancer German, Arabian, Eastern Europe - - Breast cancer, Melanoma 1 Guillermo Alberto-Instituto Fleming
?/? 3 c.43C>T p.Arg15Cys Hetero no r.? - Unknown g.90749311C>T - chr15_000005 - - DNA SEQ-NG 19-aug-2025 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 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 Argentinean - - Breast cancer 1 Guillermo Alberto-Instituto Fleming
+?/+? 2i c.99-8_112del p.? Hetero VHL r.? - Unknown g.90749359_90749380del - BLM_000025 - - DNA SEQ-NG, CNV 01-nov-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 Renal Cell cancer Spanish - - Kidney cancer 1 Guillermo Alberto-Instituto Fleming
?/? 3 c.543C>A p.(Ser181Arg) Hetero no r.(?) - Unknown g.90749811C>A - BLM_000013 rs761288442 - DNA SEQ-NG, CNV 18-oct-2023, 06-jan-2026 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., 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, Colon cancer Italian/Swiss - - Colon cancer 1 Marcela Lopez - Instituto Donna
?/? 3 c.635C>T p.(Ser212Phe) Hetero no r.(?) - Unknown g.90749903C>T - BLM_000028 - - DNA SEQ-NG 07-jan-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer panel (NGS) — Gene panel: 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 Prostate cancer Italian-spanish - - Prostate cancer 1 Luisina Bruno-Instituto Fleming
?/? 4 c.842A>C p.(His281Pro) Hetero no r.? - Unknown g.90751829A>C - BLM_000031 - - DNA SEQ-NG, CNV 03-feb-2025, 19-jun-2025, 25-sep-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS, CIBIC/Héritas ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53., 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 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, 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, Colon cancer Argentinean - - Breast cancer, Ovarian cancer 1 Agostina Tardivo-Instituto Fleming
?/? 4 c.950G>A p.(Lys317Arg) Hetero PTEN r.? - Unknown g.90751937A>G - BLM_000026 - - DNA SEQ-NG 11-nov-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 Breast cancer Armenian-Argentinean-Italian-Spanish - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 5 c.968A>G p.(Lys323Arg) Hetero no r.(?) - Unknown g.90754819A>G - BLM_000023 rs146504061 - DNA SEQ-NG, CNV 22-oct-2024, 14-jan-2026 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., ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCI, 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 Breast cancer Spanish - French - Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
+?/+? 5i c.1087+1G>A p.? Hetero no r.? - Unknown g.90754939G>A - BLM_000022 rs1179486581 - DNA SEQ-NG 09-may-2024 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 Colon cancer Spanish/Italian - - Colon cancer 1 Marcela Lopez-CEMAFE
?/? 7 c.1433G>C p.Gly478Ala Hetero no r.? - Unknown g.90760806G>C - chr15_000002 - - DNA SEQ-NG 28-jul-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 Basal cell carcinoma Unknown - - Basal cell carcinoma 1 Guillermo Alberto-Instituto Fleming
?/? 7 c.1631A>G p.Glu544Gly Hetero no r.? - Unknown g.90761004A>G - chr15_000003 - - DNA SEQ-NG 09-jun-2025 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 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D RINT1 SMAD4 SMARCA4 STK11 TP53 XRCC2 Multigenetic panel Pancreatic cancer European, Argentinean - - Pancreatic cancer 1 Guillermo Alberto-Instituto Fleming
?/? 7 c.1849A>G p.(Ile617Val) Hetero no r.(?) - Unknown g.90761222A>G - BLM_000029 - - DNA SEQ-NG 07-jan-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer panel (NGS) — Gene panel: 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 N/A European - - Breast cancer, Ovarian cancer 1 Luisina Bruno-Instituto Fleming
?/? 10 c.2237C>T (p.Ala746Val) Hetero no r.? - Unknown g.90766953C>T - BLM_000032 - - DNA SEQ-NG 21-feb-2025 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 Bilateral Breast cancer Latin - - Breast cancer, Ovarian cancer 1 Andres Rodriguez-Instituto Fleming
?/? 10 c.2333C>G (p.Ser778Cys) Hetero no r.(?) - Unknown g.90767049C>G - chr15_000010 - - DNA SEQ-NG, CNV 26-nov-2025 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 Ashkenazi Jewish - - SCMOH 1 Guillermo Alberto-Instituto Fleming
?/? 15 c.2561G>A p.Ser854Asn Hetero no r.(?) - Unknown g.90782827G>A - chr15_000013 - - DNA SEQ-NG, CNV 20-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 - - SCMOH 1 Guillermo Alberto-Instituto Fleming
?/? 16 c.2744C>T p.Ala915Val Hetero no r.(?) - Unknown g.90785002C>T - chr15_000012 - - DNA SEQ-NG, CNV 29-dec-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, 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 Breast cancer Korean - - SCMOH 1 Guillermo Alberto-Instituto Fleming
?/? 16 c.3041A>G (p.His1014Arg) Hetero no r.? - Unknown g.90794188A>G - BLM_000034 - - DNA SEQ-NG, CNV 17-sep-2025 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 - Ashkenazi - - Hereditary Breast and Ovarian cancer syndrome, BRCA1 and-or BRCA2 genes 1 Guillermo Alberto-Instituto Fleming
?/? 16 c.3041A>G p.(His1014Arg) Hetero no r.(?) - Unknown g.90794188A>G - BLM_000034 - - - - - - - - - - - - - - -
?/? 16 c.3041A>G p.(His1014Arg) Hetero no r.(?) - Unknown g.90794188A>G - BLM_000034 - - - - - - - - - - - - - - -
?/? 16 c.3041A>G p.(His1014Arg) Hetero no r.(?) - Unknown g.90794188A>G - BLM_000034 - - - - - - - - - - - - - - -
?/? 18 c.3400G>A p.(Gly1134Arg) Hetero no r.(?) - Unknown g.90803562G>A - BLM_000030 - - DNA SEQ-NG 17-feb-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer, multigene NGS panel — Gene panel: 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 N/A Italian-Argentinian - - Neurofibromatosis 1 Guillermo Alberto-Instituto Fleming
?/? 18 c.3416G>A p.Arg1139Gln Hetero no r.(?) - Unknown g.90803578G>A - chr15_000011 - - DNA SEQ-NG, CNV 03-nov-2025 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 Italian, Spanish - - Family history of breast cancer and lung 1 Luisina Bruno-Instituto Fleming
?/? 18 c.3427G>A p.(Glu1143Lys) Hetero no r.(?) - Unknown g.90803589G>A - BLM_000007 - - DNA SEQ-NG 03-feb-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 Spanish/japonese - - Breast cancer 1 Marcela Lopez-CEMAFE
?/? 18 c.3478T>C p.(Tyr1160His) Hetero no r.(?) - Unknown g.90803640T>C - chr15_000008 - - DNA SEQ-NG, CNV 15-oct-2025 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 Colon cancer Sephardic Jewish - - Lynch 1 Guillermo Alberto-Instituto Fleming
?/? 18 c.3556A>G p.Lys1186Glu Hetero no r.? - Unknown g.90803718A>G - chr15_000004 - - DNA SEQ-NG 09-jun-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 DICER1 EPCAM FANCA FANCC FANCL FANCM FH FLCN GALNT12 GREM1 HOXB13 KIT LZTR1 MAX MEN1 MET MITF MLH1 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 Bilateral Breast cancer Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 19i c.3752-13T>G (p.Asp190Asn) Hetero no r.? - Unknown g.90809124T>G - BLM_000033 - - DNA SEQ-NG 16-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, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCMT, 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 Colon cancer Latin - - Colon cancer 1 Andres Rodriguez-Instituto Fleming
?/? 21 c.3959C>A p.(Pro1320His) Hetero no r.(?) - Unknown g.90811289C>A - BLM_000027 - - DNA SEQ-NG 13-jan-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer, multigene NGS panel — Gene panel: 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 N/A Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 22 c.4214T>C p.(Ile1405Thr) Hetero no r.(?) - Unknown g.90815239T>C - BLM_000024 rs763323767 - DNA SEQ-NG 17-aug-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 Italian/Italian - - Breast cancer 1 Marcela Lopez-CEMAFE
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There is an LOVD update available.