SNPMiner Trials by Shray Alag

SNPMiner SNPMiner Trials (Home Page)

Report for Mutation G71R

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials

1 A Phase I Clinical Trial to Investigate the Correlation Between UGT1A1 Genotype and Irinotecan (CPT-11) Pharmacokinetics and Toxicity in Cancer Patients

Phase I trial to study genetic testing and the effectiveness of irinotecan in treating patients who have solid tumors and lymphoma. Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die. Genetic testing for a specific enzyme may help doctors determine whether side effects from or response to chemotherapy are related to a person's genetic makeup

NCT00003970 AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Lymph Recurrent Adult T-cell Leukemia/Lymphoma Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma Stage Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Drug: irinotecan hydrochloride
MeSH:Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, T-Cell Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome
HPO:Anaplastic large-cell lymphoma B-cell lymphoma Burkitt lymphoma Chronic lymphatic leukemia Cutaneous T-cell lymphoma Hodgkin lymphoma Leukemia Lymphoma Non-Hodgkin lymphoma T-cell lymphoma

Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity Inclusion Criteria: - Histologically proven solid tumor or lymphoma - Responded to irinotecan OR no existing curative therapy - No leukemia - Measurable or evaluable disease - Performance status - Karnofsky 70-100% - WBC at least 3500/mm^3 - Absolute neutrophil count at least 1500/mm^3 - Platelet count at least 100,000/mm^3 - Bilirubin normal - SGOT/SGPT less than 5 times upper limit of normal (unless due to disease) - Creatinine no greater than 1.5 mg/dL - Creatinine clearance at least 60 mL/min - Not pregnant or nursing - Fertile patients must use effective contraception - No inflammatory bowel disease requiring therapy - No chronic diarrhea syndrome or paralytic ileus - At least 2 weeks since prior colony stimulating factor - At least 4 weeks since prior biologic therapy - No concurrent biologic therapy - See Disease Characteristics - At least 4 weeks since prior chemotherapy (6 weeks for nitrosoureas or mitomycin) - No other concurrent chemotherapy - At least 4 weeks since prior radiotherapy to greater than 25% of bone marrow - No concurrent palliative radiotherapy - No prior transplant - No concurrent substrates of UGT1A1 enzyme - No concurrent inducers or inhibitors of UGT1A1 enzyme activity AIDS-related Peripheral/Systemic Lymphoma AIDS-related Primary CNS Lymphoma Anaplastic Large Cell Lymphoma Angioimmunoblastic T-cell Lymphoma Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue Intraocular Lymphoma Nodal Marginal Zone B-cell Lymphoma Primary Central Nervous System Non-Hodgkin Lymphoma Recurrent Adult Burkitt Lymphoma Recurrent Adult Diffuse Large Cell Lymphoma Recurrent Adult Diffuse Mixed Cell Lymphoma Recurrent Adult Diffuse Small Cleaved Cell Lymphoma Recurrent Adult Hodgkin Lymphoma Recurrent Adult Immunoblastic Large Cell Lymphoma Recurrent Adult Lymphoblastic Lymphoma Recurrent Adult T-cell Leukemia/Lymph Recurrent Adult T-cell Leukemia/Lymphoma Recurrent Cutaneous T-cell Non-Hodgkin Lymphoma Recurrent Grade 1 Follicular Lymphoma Recurrent Grade 2 Follicular Lymphoma Recurrent Grade 3 Follicular Lymphoma Recurrent Mantle Cell Lymphoma Recurrent Marginal Zone Lymphoma Recurrent Mycosis Fungoides/Sezary Syndrome Recurrent Small Lymphocytic Lymphoma Small Intestine Lymphoma Splenic Marginal Zone Lymphoma Stage III Adult Burkitt Lymphoma Stage III Adult Diffuse Large Cell Lymphoma Stage III Adult Diffuse Mixed Cell Lymphoma Stage III Adult Diffuse Small Cleaved Cell Lymphoma Stage III Adult Hodgkin Lymphoma Stage III Adult Immunoblastic Large Cell Lymphoma Stage III Adult Lymphoblastic Lymphoma Stage III Adult T-cell Leukemia/Lymphoma Stage III Cutaneous T-cell Non-Hodgkin Lymphoma Stage III Grade 1 Follicular Lymphoma Stage III Grade 2 Follicular Lymphoma Stage III Grade 3 Follicular Lymphoma Stage III Mantle Cell Lymphoma Stage III Marginal Zone Lymphoma Stage III Mycosis Fungoides/Sezary Syndrome Stage III Small Lymphocytic Lymphoma Stage IV Adult Burkitt Lymphoma Stage IV Adult Diffuse Large Cell Lymphoma Stage IV Adult Diffuse Mixed Cell Lymphoma Stage IV Adult Diffuse Small Cleaved Cell Lymphoma Stage IV Adult Hodgkin Lymphoma Stage Stage IV Adult Immunoblastic Large Cell Lymphoma Stage IV Adult Lymphoblastic Lymphoma Stage IV Adult T-cell Leukemia/Lymphoma Stage IV Cutaneous T-cell Non-Hodgkin Lymphoma Stage IV Grade 1 Follicular Lymphoma Stage IV Grade 2 Follicular Lymphoma Stage IV Grade 3 Follicular Lymphoma Stage IV Mantle Cell Lymphoma Stage IV Marginal Zone Lymphoma Stage IV Mycosis Fungoides/Sezary Syndrome Stage IV Small Lymphocytic Lymphoma Unspecified Adult Solid Tumor, Protocol Specific Mycoses Burkitt Lymphoma Lymphoma Leukemia Lymphoma, Follicular Lymphoma, Non-Hodgkin Lymphoma, B-Cell Hodgkin Disease Lymphoma, Mantle-Cell Lymphoma, B-Cell, Marginal Zone Leukemia, Lymphocytic, Chronic, B-Cell Precursor Cell Lymphoblastic Leukemia-Lymphoma Lymphoma, T-Cell Lymphoma, Large B-Cell, Diffuse Lymphoma, Large-Cell, Immunoblastic Plasmablastic Lymphoma Mycosis Fungoides Sezary Syndrome Lymphoma, T-Cell, Cutaneous Leukemia, T-Cell Leukemia-Lymphoma, Adult T-Cell Lymphoma, Large-Cell, Anaplastic Intraocular Lymphoma Immunoblastic Lymphadenopathy Syndrome OBJECTIVES: I. Classify patients with solid tumors or lymphoma according to UGT1A1 promoter (TATA box) and coding region (Gly71Arg) mutation, and CYP3A4 promoter (G to A) polymorphisms. --- Gly71Arg ---

The DNA is analyzed for the UGT1A1 coding region mutation (Gly71Arg) and CYP3A4 promoter polymorphism. --- Gly71Arg ---

Primary Outcomes

Description: A Cochran-Armitage test for trend will be used to determine whether there is a linear trend in the proportion of patients within each genotype experiencing grade 3-4 diarrhea. Similarly, trend analysis will be performed to determine if there is a linear trend in the proportion of patients within each phenotype experiencing grade 3-4 myelosuppression. Genotype (3 ordered levels) will be modeled as a function of metabolic ratios and biliary index to determine whether these are independent.

Measure: Grade 3-4 diarrhea

Time: Up to 4 years

Secondary Outcomes

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent.

Measure: Genotype

Time: Up to 4 years

Description: A chi-squared test will be used to determine whether genotype and phenotype are independent. Modeled as a function of metabolic ratios and biliary index.

Measure: Phenotype

Time: Up to 4 years

2 Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.

In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.

NCT00154960 Spinal Muscular Atrophy Neonatal Hyperbilirubinemia Colon Cancer
MeSH:Muscular Atrophy Muscular Atrophy, Spinal Hyperbilirubinemia, Neonatal Atrophy Hyperbilirubinemia
HPO:Neonatal hyperbilirubinemia Skeletal muscle atrophy Spinal muscular atrophy

The high allele-frequency of Gly71Arg and promoter polymorphism in UGT1A1 gene was found to be responsible for neonatal hyperbilirubinemia without obvious cause. --- Gly71Arg ---


HPO Nodes

HP:0003202: Skeletal muscle atrophy
Genes 746
SPTBN4 AARS1 FUS LMNA SPEG RYR1 BBS10 PYCR2 POLR3A SGCD AP1S2 FAM126A PYCR2 ENTPD1 ACTA1 TDP1 SLC12A6 HEXB TCF4 LMNA GDAP1 VLDLR INSR TNFRSF1B OPTN YARS2 GMPPB C12ORF65 CAPN3 MPZ RRM2B SPART NEU1 SLC33A1 TRNL1 RYR1 ATP7A BSCL2 SOD1 CPT1C LARGE1 IFRD1 SLC25A4 DAG1 KY DAG1 SCYL1 TNNT1 COG7 PPARGC1A SACS TBK1 MST1 MSTO1 PSMB8 LMNA C12ORF65 MAFB MYOT REEP1 MME POLG SQSTM1 WNK1 MYH3 TFG ALDH18A1 EXOSC8 PDK3 LRP4 KIF1C DOK7 TTC19 MPV17 SLC39A13 ADSS1 CA8 B4GALNT1 NEFL ND1 POMK INPP5K MFN2 SLC5A7 AIP ZFYVE26 COX2 SH3TC2 ABHD12 C12ORF65 HINT1 FLNA TYMP UBQLN2 FKTN SLC52A3 ACTA1 GDAP1 PNKP FUS C9ORF72 ATXN3 NEFL PMP22 FBLN5 SIGMAR1 ACADM C19ORF12 FHL1 ANO5 SMN1 HNRNPA2B1 PDE11A PHF6 MATR3 COL6A2 MTM1 TTN TBC1D23 SIL1 DGUOK AIFM1 RAPSN SPART COG8 CPLANE1 GYG1 TRNQ CHRNA1 DCTN1 GJB1 TRPV4 PMP22 CCT5 SOX10 COL6A2 GLE1 PHGDH C9ORF72 ATXN3 BIN1 EGR2 ACTA1 DARS2 VAMP1 SLC18A3 STAC3 ATXN3 CHMP2B FIG4 DUX4 REEP1 DNM2 HMGA2 TK2 TRNS1 ASAH1 GFPT1 CPT1C CHMP2B PSAT1 ADSS1 ABCA1 BIN1 FARS2 HNRNPA1 ATP8A2 CCT5 SGCB SYNE1 NEB VPS13A KLC2 BVES GARS1 RYR1 DYSF ARSI PNPLA6 POLG SUCLA2 NAGA SYNE2 NDRG1 FKBP14 PLP1 ATL1 ATXN2 SQSTM1 SYNE2 SCO2 LAMB2 OGDH SLC52A2 SELENON COL6A1 TPM2 RYR1 SDHB FBXO38 ZC4H2 BBIP1 FKRP KLHL41 VCP B4GALT7 PDE8B MUSK LMNA POMGNT1 DMD FXN DNAJB2 SLC16A2 VCP DES LMOD3 GBA2 SPAST LITAF YARS2 SMN1 EGR2 RTN2 TBCK BBS1 POMT1 ASCC1 LEMD3 MYH7 RPS6KA3 BMP1 COL6A3 POMT1 MYMK VRK1 CHRND PNPLA2 PHKA1 SGCD COQ2 GNE CAPN1 MKKS CYP7B1 VPS13A YARS1 DYSF SDCCAG8 FLNC NUP88 SLC52A2 KDM5C INSR TRPV4 CTNS ANG FIG4 GJB1 VCP PRX COX1 PMP22 TPM3 SQSTM1 LMNA NUP88 SURF1 GDAP1 RXYLT1 DCTN1 SACS ND5 TAF15 COL6A1 EMD ND4 ZC4H2 EXOSC3 WARS2 CAPN1 AGRN ATAD3A ATXN1 SMCHD1 SNAP25 MUSK SALL4 FHL1 PON1 TGFB1 SLC25A1 MFN2 CUL4B FLNC SLC25A19 AFG3L2 TIA1 STAC3 ASAH1 LDB3 COL6A3 REEP1 CAPN3 FLRT1 ERLIN2 TARDBP TPI1 CRPPA RAI1 BSCL2 GARS1 CHRNE TRIM32 KBTBD13 TRPV4 HSPB1 PRPH MYH7 LEMD3 TGFB1 MPZ DMPK NPHP1 WRN HNRNPA2B1 PIK3R2 SLC18A3 VCP EGR2 NOP56 TREM2 PUS1 GDAP1 CHRNB1 COL6A1 PIEZO2 ERBB3 MUSK DOK7 LAMP2 PHKG2 MME LRSAM1 DYNC1H1 TTN PLXND1 PFN1 ACTB POMT1 HSPB3 PUS1 ND6 C9ORF72 ACADSB AP1S2 USP8 RETREG1 CPT1A ATM STUB1 KIF1A SCN4A KIF1A CHAT CD59 CHRNB1 SOD1 GLT8D1 TRNL1 NEFH SDHD TRNF ANG GLE1 PFN1 NEK1 OPA1 DOK7 PRPH GAN ATL1 BICD2 TRAPPC11 NAGA ALDH18A1 DNAJC19 BBS7 RYR1 BBS2 ERLIN1 MYBPC1 NGLY1 PNKP CRPPA COLQ CHCHD10 GDAP1 ALS2 AIFM1 DYSF VAMP1 BBS9 FKTN GNE DHH TIA1 MYOT MECP2 TK2 FKTN KIF1C FARS2 MPZ COA7 B4GAT1 KIF1B MYH7 FRG1 ZFYVE26 SLC46A1 KIF5A HNRNPA1 LZTFL1 SETX ATL1 TPM3 RBM28 CHRNE HSPB1 DYSF ITGA7 B4GALNT1 TCAP PNPLA6 DHTKD1 WASHC5 ZBTB20 MFN2 ATP8 TARDBP SLC39A13 YY1 DNM1L SPRTN FBXL4 INF2 SUCLG1 CEP126 CRPPA COL2A1 SIL1 TNNT1 PRX TRAPPC11 MPZ SDHA VAPB AR RRM2B NDE1 SMN2 CRPPA CNTNAP1 KCNK9 TPI1 MAP3K20 REV3L PLEC SMCHD1 TRIP4 DCAF8 UBA1 RBM28 GLE1 KLHL9 TBCD HINT1 DGUOK ATXN2 UNC13A CHRND TBK1 ANO5 TBCE SLC5A7 FUS PYROXD1 GFPT1 NBN MPZ TUBB2B CHP1 DARS2 SPG11 CFAP410 SETX TBCE CTLA4 MATR3 VAPB TPM2 MPZ AFG3L2 ATAD3A COL4A1 HSPG2 HSPG2 MDH2 TOE1 FGD4 TFG CCNF CEP290 PNPT1 IGHMBP2 PMP22 C19ORF12 TRAPPC11 COL6A1 POLG BBS12 CD28 COL6A2 RNASEH1 AGL VCP ADSL SLC52A2 BICD2 WDR81 ACTA1 PEX7 ATXN1 ERBB4 SEPTIN9 PLEKHG5 PFKM CCDC115 MPZ MTAP NEU1 AGTPBP1 NARS2 MYO9A AGRN MKS1 TPM2 MPZ NDUFA9 SYNE1 NOP56 ERGIC1 TMEM43 COL6A3 BICD2 ALS2 ERGIC1 PEX10 GBE1 CAPN3 SDHAF1 SLC7A7 BSCL2 IFT27 BAG3 NIPA1 TK2 LMNA HARS1 TRIM32 VMA21 SGCA LRP12 RNASEH1 CHRNE PLEC COASY HSPB8 AMPD2 MGME1 FKRP NALCN NEB TTN APTX TNXB MYH7 LTBP4 TTN ARL6 TBK1 POMT2 MORC2 LMNB2 SQSTM1 ACTA1 NDUFS4 COL12A1 MYPN TTPA DCTN1 TRNE PSMB8 MGME1 NDUFA12 MYMK SQSTM1 TRNW MTMR2 COX3 PLOD3 BSCL2 PEX6 SCN9A FKRP DNA2 VPS13D KLHL41 IFT172 MYPN STIM1 NEFH GLE1 TRNH LMOD3 OPA1 PHKA2 DAO TPM3 KLC2 GPR35 FLVCR1 BBS4 SLC16A2 NEB PON3 ERLIN1 FAM111B TNXB TRNS2 SGCG COL12A1 ATXN3 COL13A1 RAPSN GJB1 NEB AK9 KIF1A REEP1 ANTXR2 MCCC2 PNPLA6 PIP5K1C ADK TTC8 CHCHD10 SELENON NEFH PRKACA TTN SLC33A1 MAG SLC9A6 PRUNE1 SCN4A PRPS1 FRG1 TMEM43 MRE11 CHRNG IBA57 ANO5 HNRNPA1 ERLIN2 FKBP14 SFXN4 COL13A1 WDPCP TPM3 KLHL41 AMPD2 POMGNT2 PMP22 BBS5 MED25 COL6A2 CHRNA1 SLC52A3 PGAP1 PTEN GNAS HNRNPDL ALDH18A1 EPHA4 SPTLC1 CAV3 POMT2 PNPLA6 ACTA1 PON2 GLB1 VAPB LIMS2 COL6A3 COL6A2 PRKAR1A PMP22 MYH14 SYT2 SYT2 TDP1 RAB7A GARS1 SPG11 B3GALNT2 PEX5 HUWE1 TBCD ANXA11 AIFM1 CHN1 SMN1 TRPV4 MYOT VCP MYOD1 VCP NDUFAF6 SBF2 C19ORF12 CHRNB1 JPH1 TIA1 CHCHD10 SELENON C8ORF37 LMNA DMD SMN1 MPZ KLHL40 PHYH TARDBP KY
Protein Mutations 1
G71R
SNP 0
HP:0003265: Neonatal hyperbilirubinemia
Genes 14
GPX1 PIEZO1 UGT1A1 IGF1 GYPC SPTA1 UGT1A1 EPB41 SPTB SLC4A1 KCNN4 UBE2A SPTA1 FBP1
Protein Mutations 1
G71R
SNP 0
HP:0012539: Non-Hodgkin lymphoma
Genes 32
ASXL1 MALT1 TET2 MYC BIRC3 CTLA4 NTHL1 KIT CD28 TNFRSF1B FAS NBN IGH TNFRSF1B RHOH ADA FOXP1 ATM IGH FAS CD28 FASLG CCND1 ATM CTLA4 RASGRP1 SRSF2 BCL10 CASP10 PRKCD POLE PIK3R1
Protein Mutations 42
A1298C A222V A677G A677V A687V C677T F1174L G71R H1112L H1112Y H1124D L1213V M1149T M1268T P1009S P13K P140K P4503A Q12H Q30R R988C T1010I T1191I T315I T790M V1110L V1206L V1238I V158M V617F V66M V941L Y1248C Y1248D Y1248H Y1253D Y641C Y641F Y641H Y641N Y641S Y93C
SNP 4
rs1801131 rs1801133 rs25531 rs6190
HP:0005550: Chronic lymphatic leukemia
Genes 8
ADAR RNASEH2A RNASEH2B SAMHD1 IFIH1 TREX1 RNASEH2C PIK3R1
Protein Mutations 9
C481S G71R P11A P13K P140K P1446A T315I T351I V600E
SNP 2
rs172378 rs396991
HP:0001909: Leukemia
Genes 187
BLM KRAS PDGFRA RB1 SH2B3 SRP54 NPM1 HAX1 TET2 FLT3 FANCC SMPD1 GFI1 RPS15A GATA1 KIT RPL11 RUNX1 RPS19 RPL35A CALR ATRX MSH2 NF1 SAMD9L TRIP13 EVC2 PIGA GATA2 TSR2 SAMD9L SPINK1 DDX41 FANCD2 ATM NRAS MLLT10 ADA2 BUB1 SH2B3 RPS29 MPL CEBPA RUNX1 ASXL1 TP53 CALR SETBP1 RNASEH2B NUP214 JAK2 SBDS WAS THPO TREM2 STS RPS24 TERT KIT JAK2 BLM BCR SRP54 SRP54 MLH1 RNASEH2C RPL18 MYD88 ELANE SH2B3 CBL GLI1 TYROBP FANCE DKC1 GATA2 DNAJC21 RPL15 KIF11 CALR TP53 SRSF2 MPL GATA2 IFIH1 SCN11A RPS10 TREX1 DNMT3A CTRC RPS27 LIG4 RPS26 FANCG SF3B1 ELANE SAMHD1 TET2 NBN NUP214 ETV6 PICALM RNASEH2A DNAJC21 JAK2 BUB3 TCIRG1 BCR BUB1B RPS28 FANCA RPL5 DYNC2LI1 NBN DNMT3A DNAJC21 MSH6 RARA PIK3CA TERC MYD88 BUB1B ARHGAP26 KRAS RPS7 RUNX1 RPL35 LPP BRCA2 CBL BRD4 GNB1 PIK3R1 CBFB ADAR F13A1 SBDS TAL1 EFL1 RPS17 JAK2 FLT3 RPS14 BCR CEP57 POT1 KRAS ABL1 APC ABL1 PMS2 TET2 WIPF1 JAK2 GATA1 NSUN2 LIG4 SH3GL1 XRCC4 F13B RPL26 RPL31 MPL PTPN11 PDGFRB NUTM1 TAL2 PIGL PIGL PRSS1 TET2 RPL27 EP300 NRAS CHIC2 TET2 GATA2 NUMA1 TERT GFI1 MPL THPO CREBBP SCN10A SCN9A ERBB3 EVC
Protein Mutations 51
C282Y C481S D816V D835Y E255K E255V F317C F317L F317S F317V F31I F359C F359V G250E G71R H369P H63D L248R L248V N682S P140K P1446A P4503A Q12H Q252H R132C R132G R132H R132L R132S R132V R140L R140Q R140W R172G R172K R172M R172S R172W S1612C S9333A T315A T315I T351I V158M V299L V57I V600E V617F V66M Y253H
SNP 15
rs10509681 rs11572080 rs12459419 rs172378 rs2032582 rs230561 rs25531 rs3816527 rs396991 rs4880 rs4958351 rs6190 rs628031 rs776746 rs904627
HP:0012189: Hodgkin lymphoma
Genes 15
AAGAB TCF4 RNF43 DKC1 FAS KLHDC8B FASLG ATM RASGRP1 COL14A1 CASP10 PRKCD TCF4 POLE FAS
Protein Mutations 3
E571K G71R P140K
SNP 0
HP:0012193: Anaplastic large-cell lymphoma
Protein Mutations 22
G71R H1112L H1112Y H1124D I1171N L1213V M1149T M1268T P1009S P140K R988C T1010I T1191I T790M V1110L V1206L V1238I V941L Y1248C Y1248D Y1248H Y1253D
SNP 0
HP:0012190: T-cell lymphoma
Genes 14
TNFRSF1B FAS CD28 FASLG CTLA4 CTLA4 RASGRP1 CASP10 CD28 PRKCD TNFRSF1B POLE FAS NBN
Protein Mutations 4
G71R P140K Q21D Q28D
SNP 0
HP:0012191: B-cell lymphoma
Genes 17
IGH ADA FOXP1 ATM IGH FAS MALT1 FASLG CCND1 BIRC3 RASGRP1 BCL10 CASP10 PRKCD FAS PIK3R1 NBN
Protein Mutations 13
A677G A677V A687V G71R L265P P140K V600E V617F Y641C Y641F Y641H Y641N Y641S
SNP 0
HP:0012192: Cutaneous T-cell lymphoma
Genes 6
TNFRSF1B CTLA4 CTLA4 CD28 TNFRSF1B CD28
Protein Mutations 2
G71R P140K
SNP 0
HP:0007269: Spinal muscular atrophy
Genes 27
IGHMBP2 TRIP4 UBA1 TBCE TRPV4 FBXO38 SIGMAR1 DYNC1H1 CHCHD10 ASAH1 SMN1 EXOSC8 DNAJB2 BICD2 SMN1 SMN1 PLEKHG5 TK2 TBCE VAPB ASCC1 ATP7A MORC2 SMN2 SMN1 KCNK9 VRK1
Protein Mutations 1
G71R
SNP 0
HP:0030080: Burkitt lymphoma
Genes 8
RHOH RASGRP1 CASP10 PRKCD FAS FAS MYC FASLG
Protein Mutations 3
G71R P140K T315I
SNP 0
HP:0002665: Lymphoma
Genes 132
TNFRSF13C BLM RB1 IL2RG IL2RG RTEL1 ITK PRKCD RAD54B BIRC3 MSH2 TCF4 TNFRSF1B DCLRE1C ATM SPINK1 RNF43 DDX41 IGH FASLG ATM CASP10 NRAS RASGRP1 BCL10 CASP10 RUNX1 TP53 CHD7 TINF2 CD19 ASXL1 CR2 RMRP SH2D1A WAS KLHDC8B MALT1 ZAP70 KIT BLM TNFSF12 MLH1 MYD88 DNASE1L3 TNFRSF13B CHEK2 MAGT1 NPM1 FOXP1 IL7R TCF4 DKC1 MS4A1 KIF11 ICOS DKC1 LIG4 SRSF2 CR2 COL14A1 RAG1 PRKCD BCL6 CTRC BCL2 LIG4 LYST NHP2 MYC CD81 TNFSF12 NTHL1 NBN IGH AAGAB TNFRSF1B RMRP MSH6 PGM3 MYD88 FAS IGH NFKB2 CD28 CTLA4 KRAS BCL10 XIAP CD19 RAD54L POLE PIK3R1 MDM2 PTEN CTC1 ADA HLA-DRB1 WRAP53 NOP10 PARN TNFRSF13C APC TNFRSF13B PMS2 ICOS TET2 CD27 WIPF1 NFKB1 TERC CTLA4 NSUN2 LIG4 BCL10 CD28 XRCC4 PNP NBN USB1 TP63 FAS RHOH ADA RECQL4 STAT3 RAG2 PRSS1 PRF1 CCND1 CDKN2A TERT
Protein Mutations 52
A677G A677V A687V C282Y C481S E571K F1174L G156A G71R H1112L H1112Y H1124D H63D I10A I1171N L1213V L265P M1149T M1268T P1009S P11A P13K P140K P4503A Q12H Q21D Q28D R131H R988C T1010I T1191I T315I T351I T790M V1110L V1206L V1238I V158F V158M V600E V617F V66M V941L Y1248C Y1248D Y1248H Y1253D Y641C Y641F Y641H Y641N Y641S
SNP 3
rs25531 rs6190 rs904627