Full data view for gene RET

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

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

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AscendingDNA change (cDNA)     

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Allele     

DNA change (genomic) (hg38)     

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Owner     
-/- 7 c.1296A>G p.(Ala432=) Homo no r.(=) - Unknown g.43111239A>G - RET_000002 - - DNA SEQ 23-oct-2017 CEMIC - Specific pathology panel -- Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 7 c.1296A>G p.(Ala432=) Hetero no r.(?) - Unknown g.43111239A>G - RET_000002 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 2 c.135A>G p.(Ala45=) Homo no r.(=) - Unknown g.43100520G>A - RET_000007 - - DNA SEQ 23-oct-2017 CEMIC - Specific pathology panel -- Unknown - - - 1 Florencia Petracchi-CEMIC
+/+ 11 c.1900T>G p.(Cys634Gly) Hetero N/A r.(?) - Unknown . - RET_000010 - - DNA SEQ 20-jul-2018 Sanatorio Allende - Specific pathology -- Argentinian - - - 1 Cecilia Montes-Hospital de Niños de la Santísima Trinidad
+/+ 11 c.1900T>G p.(Cys634Gly) Hetero no . - Unknown . - RET_000010 - - DNA SEQ 26-dec-2018 Sanatorio Allende - Known familial mutation -- Argentinian - - - 1 Cecilia Montes-Hospital de Niños de la Santísima Trinidad
-/- 11 c.2071G>A p.(Gly691Ser) Hetero no . RECLASSIFIED JULY 2022 Unknown g.42603G>A - RET_000011 - - DNA SEQ 13-jul-2018 Hospital Universitario Austral - Specific pathology - German - - - 1 Francisca Masllorens-Hospital Austral
-/- 12i c.2284+47C>T p.? Hetero no r.? - Unknown g.43116778C>T - RET_000004 - - DNA SEQ 23-oct-2017 CEMIC - Specific pathology panel -- Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 13 c.2307T>G p.(Leu769=) Hetero no r.(=) - Unknown g.43118395G>T - RET_000005 - - DNA SEQ 11-jan-2017 Domeq&, Lafage Sequence analysis of select exons - - Italian - - - 1 Norma Rossi-Hospital de Córdoba
-/- 14 c.2508C>T p.(Ser836=) Hetero no r.(?) RECLASSIFIED JULY 2022 Unknown g.43119646C>T - RET_000012 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 15 c.2712C>G p.(Ser904=) Hetero no r.(=) RECLASSIFIED JUNE 2019 Unknown g.43120185C>G - RET_000008 - - DNA SEQ 23-oct-2017 CEMIC - Specific pathology panel -- Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 18 c.2944C>T p.(Arg982Cys) Hetero no r.(?) RECLASSIFIED JULY 2022 Unknown g.43124887C>T - RET_000009 - - DNA SEQ 23-oct-2017 CEMIC - Specific pathology panel -- Unknown - - - 1 Florencia Petracchi-CEMIC
?/? 4 c.785T>C p.(Val262Ala) Hetero no r.? - Unknown g.43105111T>C - RET_000017 rs139790943 - DNA SEQ-NG, CNV 03-jul-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 jew (Ashkenazi)-French-Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 9 c.1699G>A p.(Asp567Asn) Hetero no r.? - Unknown g.43112903G>A - RET_000015 rs147219360 - DNA SEQ-NG, CNV 17-apr-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 Colorectal cancer German/Syrian - - Breast cancer,Colorectal cancer, Lymphoma 1 Guillermo Alberto-Instituto Fleming
?/? 13 c.2332G>A p.(Val778Ile) Hetero no r.? - Unknown g.43118420G>A - RET_000014 rs75686697 - DNA SEQ-NG 30-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 Kidney cancer Italian/spanish - Spanish - - Gastric cancer, Kidney cancer, Lung cancer, Pancreatic cancer. Prostate cancer 1 Pablo Kalfayan - Consultorio Particular.
?/? 19 c.3095G>A p.(Gly1032Asp) Hetero no r.? - Unknown g.43126630G>A - RET_000013 rs1838335979 - DNA SEQ-NG 06-nov-2023 ARGENETICS ABRAXAS1, AIP, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, DICER1, DIS3L2, EPCAM, 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, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RECQL4, 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, XRCC2 Multigenetic panel Breast cancer NativeArgentinian/Spanish-NativeArgentinian/Basque - - Breast cancer 1 Angelucci Guillermina - Hospital Centeno 
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