Full data view for gene NF2

Information The variants shown are described using the NM_000268.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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     
?/? 7 c.614T>C p.(Met205Thr) Hetero no r.? - Unknown g.29658203T>C - NF2_000004 rs747871414 - DNA SEQ-NG, CNV 19-09-22 Fundación para el Progreso de la Medicina Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53 Multigenetic panel Breast cancer Italian - Spanish - - Breast cancer 1 Cecilia Montes-IMGO
?/? 10 c.947T>G p.(Leu316Trp) Hetero no r.? - Unknown g.29668394T>G - NF2_000006 rs750633919 - DNA SEQ-NG, CNV 29-apr-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS HEREDITARY CANCER SYNDROME (78 genes) 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 Colon cancer, Ovarian cancer Spanish - - Colon cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 10 c.947T>G p.(Leu316Trp) Hetero no r.? - Unknown g.29668394T>G - NF2_000006 - - 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
?/? 10 c.991A>G p.(Arg331Gly) Hetero no r.? - Unknown g.29668438A>G - NF2_000007 - - DNA SEQ-NG 05-may-2023 IBC Laboratorios 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 Italian/English - - Breast cancer 1 Marcela Lopez-CEMAFE
?/? 13 c.1207G>A p.(Ala403Thr) Hetero no r.? - Unknown g.29673467G>A - NF2_000005 - - DNA SEQ-NG, CNV 25-jan-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary Cancer 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 GIST Italian - - GIST 1 Guillermo Alberto-Instituto Fleming
?/? 12 c.1232G>A p.(Arg411His) Hetero no r.(?) - Unknown g.29673378G>A - NF2_000002 - - DNA CNV, SEQ-NG 17-apr-2020 Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (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) Multigenetic panel Breast cancer Spanish-Italian - - Breast cancer 1 Norma Rossi-Hospital de Córdoba
?/? 14 c.1451T>C p.(Met484Thr) Hetero no r.(1451u>c) - Unknown g.29678200T>C - NF2_000003 - - DNA SEQ-NG 22-03-22 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53 Multigenetic panel Breast cancer Unknown - - Breast cancer, Pancreatic cancer 1 Claudia Martin-Hospital de Córdoba
?/? 14 c.1478C>G p.(Pro493Arg) Hetero no r.(?) - Unknown g.29678227C>G - NF2_000008 - - DNA SEQ-NG 14-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 Colonic Polyposis, Rectal cancer Latin - - Familial adenomatous polyposis 1 Andres Rodriguez-Instituto Fleming
?/? 14 c.1540A>G p.(p.Met514Val) Hetero no r.? - Unknown g.29678289A>G - NF2_000009 - - DNA SEQ-NG , 22-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 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 renal cancer, Breast cancer, Endometrial cancer, Gallbladder cancer Italian - - Kidney cancer 1 Luisina Bruno-Instituto Fleming
+/+ 15 c.1575_1737del p.(Lys525Asnfs*20) Hetero N/A r.(?) - Unknown g.29681439_29681601del - NF2_000001 - - DNA SEQ, MLPA 17-feb-2017 MANLAB, IMEGEN - Specific pathology Neurinoma Spanish-Argentinian - - Neurinoma 1 Lina Nuñez-Private Practice
?/? 14 c.1749G>C p.Gln583His Hetero no r.? - Unknown g.29678498G>C - chr22_000008 - - DNA SEQ-NG 24-Jun-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 BRIP1 FANCA FANCC MSH6 POLE SMAD4 BUB1B FANCG MUTYH PTEN STK11 CDC73 FANCD2 NBN RAD50 TP53 CDH1 FANCM NF1 RAD51C VHL Multigenetic panel Breast cancer Native Argentinian - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
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.