Full data view for gene KIT

Information The variants shown are described using the NM_000222.3 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     
Lab     
Remarks     
Type of test     
Disease     
Ethnic origin     
Reference     
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Panel size     
Owner     
?/? 1 c.11C>T (p.Ala4Val) Hetero no r.? - Unknown g.54658025C>T - KIT_000003 - - DNA SEQ-NG 21-Mar-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 Breast cancer Spanish-Portuguese - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 2 c.146G>A p.(Arg49his) Hetero no r.? - Unknown g.54695590G>A - KIT_000001 rs376469897 - DNA SEQ-NG 22-feb-2024 Hospital Privado Centro Médico de Córdoba Breast and ovarian cancer panel (31 genes) ATM BARD1 BRCA1 BRCA2 BRIP1 CDC73 CDH1 CHECK2 DICER1 EPCAM FANCC FANCM MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 PALB2 PMS2 POLD1 PTEN RAD50 RAD51C RAD51D SDHB SDHD STK11 TP53 KIT Multigenetic panel Breast cancer Italiana/Italiana -Italiana/Italiana - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
?/? 2 c.200C>G p.Thr67Ser Hetero no r.? - Unknown g.54695644C>G - chr4_000001 - - DNA SEQ-NG 30-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 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 Pancreatic cancer Russian, Italian - - Pancreatic cancer 1 Guillermo Alberto-Instituto Fleming
?/? 5 c.916G>A p.(Glu306Lys) Hetero no r.? - Unknown g.54703883G>A - KIT_000005 - - DNA SEQ-NG 30-dec-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 Colorectal cancer Spanish-spanish - - Breast cancer, Colorectal cancer 1 Lina Nuñez-Private Practice
?/? 10 c.1553C>T (p.Pro518Leu) Hetero ATM r.? - Unknown g.54727230C>T - KIT_000004 - - DNA SEQ-NG 25-Mar-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 Italian-Spanish - - ATM-associated syndrome 1 Agostina Tardivo-Instituto Fleming
?/? 10 c.1594G>A p.(Val532Ile) Hetero no r.? - Unknown g.54727271G>A - KIT_000002 rs55792975 - DNA SEQ-NG 19-oct-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 Bone cancer, Prostate cancer Spanish/Brazilian - - Prostate cancer 1 Marcela Lopez - Instituto Donna
?/? 10 c.2332A>G p.Lys778Glu Hetero no r.? - Unknown g.54728009A>G - chr4_000002 - - DNA SEQ-NG 23-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, 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 Bilateral Breast cancer Argentinean / Spanish - - Breast cancer, Ovarian cancer 1 Agostina Tardivo-Instituto Fleming
?/? 10 c.2411G>A p.Arg804Gln Hetero no r.? - Unknown g.54728088G>A - chr4_000003 - - 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 Breast cancer German, Arabian, Eastern Europe - - Breast cancer, Melanoma 1 Guillermo Alberto-Instituto Fleming
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