SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation Y93H

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 Safety, Tolerability, and Efficacy of Daclatasvir and Asunaprevir, With or Without BMS-791325, in Subjects Coinfected With HIV-HCV

Chronic hepatitis C virus (HCV) infection is a major public health problem with an estimated 180 million people infected worldwide. In the United States an estimated 4.1 million people are infected and HCV is the principal cause of death from liver disease and leading indication for liver transplantation. Within HIV/HCV co-infected patients, liver disease due to Hepatitis C progresses even more rapidly. While combination of ribavirin (RBV) and pegylated interferon (PEG) in combination with boceprevir/telaprevir is the currently recommended therapy for chronic HCV infection and has superior cure rates compared to PEG+RBV alone in HCV monoinfected patients, treatment is still associated with a high incidence of adverse events (AEs), discontinuations and poor cure rates in several populations. Within the HIV/HCV co-infected population treatment for HCV remains complicated given drug interactions between anti-retrovirals and HCV protease inhibitors, in addition to the extensive side-effects due to PEG +RBV alone. Recent studies have demonstrated that the use of a combination of anti-virals which target HCV without interferon (IFN) can cure HCV, without additional toxicities. These novel therapies that do not rely on an IFN backbone may additionally enhance cure rates in HIV/HCV co-infected, a population which has historically been difficult to cure. The findings from this study will aid in the understanding of antiviral and host responses and determinants of response to an IFN free regimen in HIV/HCV co-infected patients.

NCT02124044
Conditions
  1. HIV-HCV
Interventions
  1. Drug: Asunaprevir and Daclatasvir
  2. Drug: Asunaprevir and Daclatasvir with BMS-791325

Chronic liver disease of a non-HCV etiology (e.g., hemochromatosis, Wilson s disease, alfa-1 antitrypsin deficiency, cholangitis) 2. Positive nucleotide sequence analyses of the NS5A gene for Y93H or L31M/V polymorphisms for the 2DAA arm only. --- Y93H ---

Primary Outcomes

Description: The primary outcome was the percentage of patients with sustained viral response measured 12 weeks after the stop of treatment. The viral response was assessed by serum HCV RNA concentrations lower than 43 IU/mL - the lower limit of quantification.

Measure: The Percentage of Subjects Who Achieve Sustained Viral Response (SVR12) 12 Weeks After the Stop of Treatment Drugs

Time: 12 weeks after stop of treatment

2 A Phase 2, Open-label Study to Investigate the Efficacy and Safety of the Combination of Simeprevir and Daclatasvir in Chronic Hepatitis C Genotype 1b-Infected Subjects

The purpose of this study is to determine the efficacy of a 12- or 24-week treatment regimen of simeprevir in combination with daclatasvir, as measured by sustain virologic response 12 (SVR12), in treatment-naive, chronic hepatitis C virus (HCV) genotype 1b-infected participants who have advanced fibrosis or compensated cirrhosis (METAVIR F3/F4).

NCT02268864
Conditions
  1. Hepatitis C, Chronic
Interventions
  1. Drug: Simeprevir
  2. Drug: Daclatasvir
MeSH:Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis
HPO:Hepatitis

For cirrhotic participants (METAVIR score F4) a biopsy performed at any previous time is acceptable - Participants who have cirrhosis must have an hepatic imaging procedure (ultrasound, computed tomography [CT] scan or magnetic resonance imaging [MRI]) within 6 months prior to the Screening visit (or between Screening and Day 1) with no findings suspicious for hepatocellular carcinoma - Participant must have a body mass index (BMI) >= 18 Kilogram per meter^2 (kg/m^2) - Participant must be treatment naive (that is, have not received prior treatment for HCV with any approved or investigational drug) Exclusion Criteria: - Participant has co-infection with HCV of another genotype; a) Participant who has HCV genotype 1b has coinfection with HCV of a genotype other than genotype 1b - Chronic HCV genotype 1b-infected participant who has the presence of genetic variants coding for the NS5A-Y93H and/or L31M/V amino acid substitutions at Screening - Participant has evidence of current or previous episodes of hepatic decompensation (including controlled or uncontrolled ascites, bleeding varices or hepatic encephalopathy) - Participant has chronic liver disease of a non-HCV etiology (including but not limited to hemochromatosis, Wilson's disease, alfa 1-antitrypsin deficiency, cholangitis, drug- or alcohol-related liver disease, primary biliary cirrhosis) - Participant has any other uncontrolled clinically significant disease or clinically significant findings during Screening that in the opinion of the investigator could compromise the participants' safety or could interfere with the participant participating in and completing the study - Participant has coinfection with hepatitis A or hepatitis B virus (hepatitis A antibody immunoglobulin M [IgM] or hepatitis B surface antigen [HBsAg] positive at Screening) - Participant has received a solid organ transplant Inclusion Criteria: - Participant must have chronic Hepatitis C virus (HCV) genotype 1b infection confirmed at Screening - Participant must have HCV ribonucleic acid (RNA) greater than (>) 10,000 international unit per milliliter (IU/mL) at Screening - Participant must have documented fibrosis stage at Screening (or between Screening and Day 1 [baseline]). --- Y93H ---

For cirrhotic participants (METAVIR score F4) a biopsy performed at any previous time is acceptable - Participants who have cirrhosis must have an hepatic imaging procedure (ultrasound, computed tomography [CT] scan or magnetic resonance imaging [MRI]) within 6 months prior to the Screening visit (or between Screening and Day 1) with no findings suspicious for hepatocellular carcinoma - Participant must have a body mass index (BMI) >= 18 Kilogram per meter^2 (kg/m^2) - Participant must be treatment naive (that is, have not received prior treatment for HCV with any approved or investigational drug) Exclusion Criteria: - Participant has co-infection with HCV of another genotype; a) Participant who has HCV genotype 1b has coinfection with HCV of a genotype other than genotype 1b - Chronic HCV genotype 1b-infected participant who has the presence of genetic variants coding for the NS5A-Y93H and/or L31M/V amino acid substitutions at Screening - Participant has evidence of current or previous episodes of hepatic decompensation (including controlled or uncontrolled ascites, bleeding varices or hepatic encephalopathy) - Participant has chronic liver disease of a non-HCV etiology (including but not limited to hemochromatosis, Wilson's disease, alfa 1-antitrypsin deficiency, cholangitis, drug- or alcohol-related liver disease, primary biliary cirrhosis) - Participant has any other uncontrolled clinically significant disease or clinically significant findings during Screening that in the opinion of the investigator could compromise the participants' safety or could interfere with the participant participating in and completing the study - Participant has coinfection with hepatitis A or hepatitis B virus (hepatitis A antibody immunoglobulin M [IgM] or hepatitis B surface antigen [HBsAg] positive at Screening) - Participant has received a solid organ transplant Hepatitis C, Chronic Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis This is an open-label (all people know which treatment the participants receive) study to investigate the efficacy, safety and tolerability of simeprevir and daclatasvir in chronic Hepatitis (inflammation of the liver) C virus (HCV) genotype 1b infected participants who are treatment-naive. --- Y93H ---

Primary Outcomes

Description: Participants were considered to have reached SVR12, if 12 weeks after the actual end of treatment (EOT), hepatitis C virus (HCV) ribonucleic acid (RNA) was less than lower limit of quantification ( Measure: Percentage of Participants With Sustained Virologic Response 12 Weeks After End of Study Drug Treatment (SVR12)

Time: At 12 weeks after end of treatment

Secondary Outcomes

Description: Participants were considered to have reached SVR4, if 4 weeks after the actual EOT, HCV RNA was Measure: Percentage of Participants With Sustained Virologic Response 4 Weeks After End of Study Drug Treatment (SVR4)

Time: At 4 weeks after actual EOT

Description: Participants were considered to have reached SVR24, if 24 weeks after the actual EOT, HCV RNA was Measure: Percentage of Participants With SVR 24 Weeks After End of Study Drug Treatment (SVR 24)

Time: At 24 weeks after actual EOT

Description: Participants were considered on-treatment failures if they did not achieve SVR12 and had (confirmed) detectable HCV RNA, ie, =) LLOQ at EOT.

Measure: Percentage of Participants With On-treatment Failure

Time: Up to Week 24 after actual EOT

Description: Participants were considered to have had viral breakthrough if they had a confirmed greater than (>) 1.0 log10 international units/milliliter (IU/mL) increase in HCV RNA from nadir OR confirmed HCV RNA >100 IU/mL while previously having achieved HCV RNA Measure: Number of Participants With Viral Breakthrough

Time: Up to Week 24

Description: Participants were considered to have had viral relapse if they did not achieve SVR12 and met the following conditions: had HCV RNA =LLOQ during the follow-up period.

Measure: Number of Participants With Viral Relapse

Time: Up to Week 24 after actual EOT

3 The Safety and Efficacy of Daclatasvir and Asunaprevir With Chronic HCV Genotype 1b Infection and Chronic Renal Failure

Safety and Efficacy of DAAs (Daclatasvir+Asunaprevir) in patients with chronic hepatitis C and chronic renal failure will be assessed.

NCT02580474
Conditions
  1. Hepatitis C
Interventions
  1. Drug: Daclatasvir plus Asunaprevir
MeSH:Hepatitis C Renal Insufficiency Kidney Failure, Chronic
HPO:Renal insufficiency

Last dose in this previous HCV treatment course should have occurred at least 2 months prior to screening - No baseline mutation NS5A polymorphism including L31F/I/M/V and Y93H Exclusion Criteria: - A patient who having received Daclatasvir or Asunaprevir - Pregnant women, women who are breastfeeding or who believe they may wish to become pregnant during the course of the study - Evidence of a medical condition contributing to chronic liver disease other than HCV or seropositive for HIV - Diagnosed or suspected hepatocellular carcinoma or other malignancies - Any history of, or current evidence of, clinical hepatic decompensation (e.g., ascites, encephalopathy or variceal hemorrhage) - Received solid organ or bone marrow transplant - Current alcohol or substance abuse judged by the investigator to potentially interfere with subject compliance - Significant renal, cardiovascular, pulmonary, or neurological disease and uncontrolled diabetes or hypertension in the opinion of the investigator - Known hypersensitivity to study drugs, metabolites, or formulation excipients - Who has taken investigational drugs within 2 months. --- L31F --- --- Y93H ---

Primary Outcomes

Measure: the proportion of subjects with plasma HCV RNA levels below 15 IU/mL at Week 12 After End of Treatment

Time: 36 Week

Secondary Outcomes

Measure: To evaluate the percentage of subjects with Sustained Virologic Response at Week 12 After End of Treatment

Time: 36 Week

Measure: Percentage of subjects with ALT normalization at each visit from the baseline

Time: 4, 12, 24, 36 week

Measure: Change in HCV RNA at each visit from the baseline

Time: 4, 12, 24, 36 week

Measure: Percentage of subjects who experience viral breakthrough at each visit from the baseline

Time: 4, 12, 24, 36 week

Measure: Percentage of subjects who shows Tolerability of Daclatasvir and Asunaprevir at each visit from

Time: 4, 12, 24, 36 week

4 An Open-Label Study to Evaluate the Safety and Efficacy of Ombitasvir/Paritaprevir/Ritonavir in Japanese Adults With Genotype 1b Chronic Hepatitis C Virus (HCV) Infection With End Stage Renal Disease on Hemodialysis (GIFT-R)

The purpose of this multicenter, single-arm, combination-drug study, which includes 12 weeks of treatment and 24 weeks of follow-up, is to evaluate the safety, efficacy and pharmacokinetics of ombitasvir/paritaprevir/ritonavir in Japanese adults infected with HCV GT1b, who are treatment-naïve or treatment-experienced to an IFN-based regimen and who have ESRD on HD.

NCT02806362
Conditions
  1. Chronic He
  2. Chronic Hepatitis C Virus
Interventions
  1. Drug: Ombitasvir/paritaprevir/ritonavir
MeSH:Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis Hepatitis, Chronic Kidney Diseases Kidney Failure, Chronic
HPO:Abnormality of the kidney Chronic active hepatitis Chronic hepatitis Hepatitis Nephropathy

Exclusion Criteria: - Presence of Y93H variant at Screening - Positive test result for Hepatitis B surface antigen (HBsAg) or anti-Human immunodeficiency virus antibody (HIV Ab) - Significant liver disease with any cause other than chronic HCV infection - On peritoneal dialysis - On hemodialysis for more than 15 years Inclusion Criteria: - Females must be practicing specific forms of birth control on study treatment, or be post-menopausal for more than 2 years or surgically sterile - Hepatitis C Virus (HCV) Ribonucleic acid (RNA) greater than 10,000 IU/mL at Screening - Chronic HCV, Genotype (GT)1b infection - Treatment-naive or treatment-experienced with an interferon (IFN)-containing regimen (IFN or pegylated-IFN with or without ribavirin). --- Y93H ---

Exclusion Criteria: - Presence of Y93H variant at Screening - Positive test result for Hepatitis B surface antigen (HBsAg) or anti-Human immunodeficiency virus antibody (HIV Ab) - Significant liver disease with any cause other than chronic HCV infection - On peritoneal dialysis - On hemodialysis for more than 15 years Chronic He Chronic Hepatitis C Virus Hepatitis A Hepatitis C Hepatitis C, Chronic Hepatitis Hepatitis, Chronic Kidney Diseases Kidney Failure, Chronic null --- Y93H ---

Primary Outcomes

Description: SVR12 defined as the hepatitis C virus (HCV) ribonucleic acid (RNA) level less than the lower limit of quantification (LLOQ) 12 weeks after the last dose of study drug.

Measure: Percentage of participants achieving a 12-week sustained virologic response (SVR12).

Time: 12 weeks after the last dose of study drug

Secondary Outcomes

Description: On-treatment virologic failure was defined as the following: Confirmed increase from nadir in HCV RNA (2 consecutive HCV RNA measurements greater than 1 log10 IU/mL above nadir) at any time point during treatment; or Confirmed HCV RNA greater than or equal to LLOQ after HCV RNA is less than LLOQ during treatment; or HCV RNA greater than or equal to LLOQ persistently during treatment with at least 6 weeks of treatment.

Measure: Percentage of participants with on-treatment virologic failure

Time: Up to Week 12

Description: Participants with a confirmed HCV RNA greater than or equal to the LLOQ between Final treatment visit and 12 weeks after the last dose of study drug among participants completing treatment and with HCV RNA less than LLOQ at Final treatment visit.

Measure: Percentage of participants with relapse

Time: Up to 12 weeks after the last dose of study drug

5 Treatment Efficacy and Safety of 12 Weeks of Daclatasvir, Asunaprevir Plus Ribavirin for HCV Genotype 1b Without Baseline NS5A Resistance-associated Variants (DARING)

A single-arm, multi-center study of HCV-1b patients without baseline non-structure protein (NS5A) resistance-associated variants. Daclatasvir (60mg/day) and asunaprevir (100 mg twice daily) plus weight-based ribavirin (1000-1200 mg/d) for 12 weeks will be prescribed.

NCT03004625
Conditions
  1. Hepatitis C
Interventions
  1. Drug: daclatasvir
  2. Drug: asunaprevir
  3. Drug: Ribavirin
MeSH:Hepatitis C

The existence of baseline NS5A RAV "Lycine 31 (L31F/I/M)" or "Tyrosine93 (Y93H)", by using direct-sequencing with RAV of > 20%. --- L31F --- --- Y93H ---

Primary Outcomes

Description: SVR12 is defined as undetectable HCV RNA 12 weeks throughout 12 weeks of post-treatment follow-up peroid

Measure: To determine the treatment efficacy (SVR12) of 12 weeks of daclatasvir and asunaprevir plus ribavirin for HCV-1b patients without baseline RAVs

Time: 6 months (including 3 months of treatment and 3 months of post-treatment follow-up peroid

Secondary Outcomes

Measure: To evaluate the number of participants with treatment-related adverse events of 12 weeks of daclatasvir and asunaprevir plus ribavirin for HCV-1b patients without baseline RAVs.

Time: 3 months

6 Safety of Sofosbuvir Plus Daclatasvir in Patients With Chronic Hepatitis c Virus and Assessment of Resistance Associated Variants in Resistant and Relapsed Cases

To identify side effects of Sofosbuvir/ Daclatasvir treatment regimen of chronic HCV GT-4 infection. - To assess the occurrence and the prevalence of RAVs in patients with treatment failure and relapse after sofosbuvir and daclatasvir with assessment of their types . - To examine the GT4 subtypes by phylogenetic analysis and baseline sequence variability among subtypes and their potential impact on treatment outcome and development of viral resistance in patients who received a regimen of Sofosbuvir/ Daclatasvir for treatment of chronic HCV GT-4. - To assess the differences in patient demographics across GT4 subtypes.

NCT03572140
Conditions
  1. HCV
Interventions
  1. Diagnostic Test: RAVS In relapsed and resistent cases

NS5A RAVs can be very common, with Y93H detected in up to 15% of the population and L31M in up to 6.3%. --- Y93H ---

Primary Outcomes

Description: that may be used in the future to predict the response to Sofosbuvir and this will save a huge cost for Egypt .

Measure: relevance of HC RAVs to the outcomes of therapy with Sofosbuvir in treatment of egyptian patients infected with HCV genotype 4

Time: baseline


HPO Nodes


HP:0000077: Abnormality of the kidney
Genes 1793
SMARCA4 H19 RPS19 WT1 ND4 MMUT EDNRB NDUFS6 LPIN2 PGM3 FXYD2 FANCB PGAM2 NTRK1 KCTD1 GP1BB HS6ST1 FANCC RET SEC61A1 SLC6A20 SEC24C PAH NELFA CHN1 APOE PEX11B BLK FGF20 ABCG8 CCDC141 HGD FBXL4 TRIP13 PTH1R SOX10 FEZF1 KCNH1 RNU4ATAC TTC21B CDH23 MCC FOXC2 NF1 EIF2AK3 C1QB RAD51 ERCC4 NPHP1 NSD1 TSC2 SPINK5 FANCL NDUFA1 STX3 EVC RET CFTR PPP2R1A PLCD1 APRT XYLT2 SDHB NEK1 FLNB COQ2 TMEM67 BRAF FBLN5 LZTFL1 ACP5 PAX7 MAP2K1 PUF60 COL4A5 TP63 SEMA3E RASGRP1 TKT SIX1 TTR H19 SPOP DNAJC21 LETM1 COL4A1 WDPCP SFTPC ACTG2 FAM149B1 PEX19 ADCY10 BBS12 GLI3 RPL26 HNF4A RERE NEK8 EYA1 KLLN FANCM WT1 FOXP3 MEFV MYCN UBR1 OSGEP IARS1 PDGFRL FAM20A FLT1 INVS TMEM231 SLC3A1 CPLANE1 HIC1 IFNG SURF1 HLA-DRB1 JAG1 TACO1 ZFP57 VANGL1 GBE1 SALL4 FANCG RAD51C KCNJ10 ATN1 MKS1 DNAJB11 ND5 RPS19 CASK DYNC2H1 H19-ICR F8 C1QC ATP6V0A4 ETFA MUC1 MITF ALG8 INSL3 MST1 PRDX1 TOR1A ADGRG2 TRNV PDGFRB RAB23 HPSE2 FAT4 NDUFA6 CIT PRODH WT1 ALDH18A1 PIGQ RAF1 NPHP4 STAT2 SKIV2L SON KCNJ5 HAAO BUB1B TRIP11 ERAP1 ADAMTSL1 SMC1A ZNF148 NPHS2 TMEM231 ARX PRTN3 PIGN TRNF PKHD1 TDGF1 NDUFB11 B4GAT1 VIPAS39 DYRK1A FLCN CYP24A1 ANKS6 TMEM231 ACE CTH PIGQ TSR2 IL12A CDKN1A IRF5 ERBB3 ROR2 RIPK4 FANCB ZEB2 BBIP1 NUP107 LDLRAP1 PRKCD NCAPD3 PEX7 HSD17B4 BUB3 VPS33B CASR WDR35 LIG4 GNAS PAX2 SDCCAG8 GNA11 FAN1 TMEM127 HPSE2 DYNC2H1 TREX1 LCAT MET COA3 WT1 CD96 SDHAF2 WT1 STAT1 TNXB TMEM237 BBIP1 GATM PTPRJ HPRT1 CHD7 LMNA GBA SDR9C7 PQBP1 NDUFS7 TRNL1 CIT SLC5A2 ABCC6 SLC9A3R1 OFD1 IQCB1 SETD5 GDF2 PLG AGXT TP53 LAMC2 MAGI2 BICC1 MMUT TRAF3IP2 GP9 CEP290 FANCD2 PYGL PIK3R2 APPL1 HOXA13 PPM1B PIGV TRNQ TRIM32 RFC2 ALG1 HPS1 SPECC1L PMM2 SERPINA1 WAS SOX9 WT1 TRNS1 APOL1 SEMA3E IL17F HOGA1 SHANK3 SLC35A2 DDX59 TMEM260 NUP160 PYCR2 TAPT1 DSTYK TMEM127 APC SLC7A7 INS CC2D2A FREM2 FAM20C CENPF BUB1 CEP83 DKC1 NDUFAF4 NFIA PGK1 RAD54B AFF4 VHL CLDN10 SRC SLC25A11 RARA PAFAH1B1 MEFV ND1 ITGA8 GLMN MYD88 PTEN FGF10 TP53 SMAD4 WDR19 TMEM216 CEP290 GATA4 WAC AIRE ITGA6 STRA6 NDUFB8 PLCE1 FGFR2 FGF17 FANCC WFS1 IFIH1 COA8 DHCR7 PTCH1 CDC73 LAMB2 CLCNKB ZNF423 RNF139 H19-ICR PROK2 CLCNKB RPL27 CC2D2A SCNN1B AVPR2 COX10 MGME1 GPC3 NDUFS1 WASHC5 MDM2 ACTN4 ABCC6 CRTAP DYNC2LI1 MKS1 PRKCSH SHH MEFV REN DEAF1 NDUFAF8 PIGL XYLT1 PEX12 PTPN11 SLC4A4 ITGA2B DLST FOXF1 GRIP1 PIGW PHEX CRB2 COQ6 GDNF EYA1 LIPT2 PROKR2 APC2 ARHGDIA CTNS TCTN3 SMARCC2 PPOX F10 PKHD1 ODC1 TPRKB WDR19 RAB3GAP1 KCNJ11 RPS26 TRNW STRADA RPL18 CDK5RAP2 PRKAR1A ZNF687 WDR4 EHMT1 RPGRIP1L TRNK SLC30A9 INPP5E UMOD SDHB TMEM67 SF3B4 INSR MEOX1 VAMP7 CEP290 FAT4 PTPN22 ARL6 SLC34A1 BCS1L SRY EPAS1 KCNQ1OT1 PHYH SDHB CISD2 TRIM28 PAX2 HPRT1 GCM2 LIG4 COL3A1 ABCG5 ALDOB NXN GP1BB ENG CENPJ IQCB1 MINPP1 CASP10 PTPN22 LMOD1 TRNT GLIS3 POGZ F8 CA2 FOXH1 TRNL1 PIGP NOTCH2 SDCCAG8 ALX4 PLD1 GSN ENPP1 RNU4ATAC SMARCB1 SF3B4 STXBP1 BCOR VHL GREB1L KCNJ11 MLXIPL SLC37A4 RAB18 AGXT MAPKBP1 RYR1 NPHP3 GNB1 DPF2 TP63 CEP135 HNF1B HPRT1 PEX13 GPC3 RPGRIP1L WDR19 JAM3 PRPS1 CEL TCTN3 SIX5 NPHP3 TP53RK IL17RA UFD1 CHEK2 FREM2 AAGAB MKKS TGM1 TSC1 EIF2AK3 APC AKT1 YY1AP1 ARID1A CACNA1S ITPR3 NDUFA11 RAD21 G6PC RORA MAFB SDHC PTCH1 ALG8 HNF4A TBX1 PREPL TMEM67 INPP5E CCBE1 ARL6 FIP1L1 DNA2 PBX1 NPHP1 SOX9 NPHP3 PIK3C2A SCO1 SPECC1L TTC37 TMEM216 APC PIK3CD BRAF SDCCAG8 DHDDS KIF14 FANCE FCGR2A TAF13 RAD21 LMNB2 GPC4 CEP164 ARL6 SERPINH1 CPT1A MARS1 ALMS1 INVS FANCI PEX26 FLRT3 SMARCAL1 NPHP1 SMARCE1 CHST14 WRN SRCAP LRIG2 GP1BA TRNS2 FGFR3 DNASE1 SDHB NIPBL RPGRIP1L SLC22A12 TMEM107 TMEM138 ZAP70 ND3 GNAS ALOX12B ND1 CILK1 NOD2 ZEB2 B9D1 NODAL RRM2B USP9X CLDN16 MYOD1 CSPP1 MAFB FIBP PEX3 WNT4 COX6B1 ETFDH OCRL UBAC2 COX1 HNF4A RAI1 TMCO1 BUB1B MAGED2 CRB2 PEX1 NPHP4 MMACHC RERE ALMS1 AQP2 HDAC8 TRAF3IP1 TBC1D8B PUF60 CASR ARID1B OCLN HELLPAR THBD SNAI2 CSPP1 CCBE1 MCM5 PIK3CA BBS5 IRAK1 CPLANE1 ARX POU6F2 POLR3A FGFR2 SEC23B RET TFE3 MKKS HYMAI SHH SARS2 CD151 SDHD ABCC8 CSPP1 KNSTRN TMEM216 SDCCAG8 BRAF SLC7A9 RPL11 KIF14 KMT2D SLC3A1 IGF2 NUP85 CASR PLA2G2A MLH3 GPC4 HLA-DPA1 CHD7 RPGRIP1 PEX16 PTPN22 CLPB PIGN ND3 DCLRE1C PEX1 CFH TRNN SUFU NPHS1 FOXF1 KLRC4 CCND1 COG7 IFT80 TSC1 BSND USP9X TRNK SMC1A MEN1 ADCY10 ESCO2 ZFPM2 AP2S1 JAK1 PRCC HMBS ADA2 SLC4A1 RSPO2 C4A GANAB WT1 CLCNKB PPP1R15B FGF8 CTNS WASHC5 CTU2 BSCL2 STAT4 SETD2 XDH AMER1 IFT172 TMEM216 KIAA0753 ZNF423 ARVCF AKT3 ATRX BAP1 ALDOB PGAP2 C8ORF37 RECQL4 MSH2 MKS1 EHMT1 KLHL7 FH RECQL4 MYH9 CFH NDUFS2 CD2AP FGFR2 CEP120 CDKN2A OFD1 AGGF1 FLNB ANOS1 PHGDH HRAS MRPS22 FGFR1 DMXL2 MOCOS TALDO1 IL17RC TRIM28 TCTN2 NSMF KDM6A TRIM8 CEP63 BAX WDR62 MAP2K2 MKKS CPT2 MCFD2 CAV1 BRF1 SNRPB IL10 COX3 OFD1 PAX4 TRIP13 MCTP2 CLCNKA PIK3C2A COX8A SLC34A3 EP300 DGKE SCNN1B PIK3CA KCNE5 PLVAP PDE6D CEP152 ITGB3 SRP54 SOX11 MAP3K7 COL4A4 ERCC6 IL17RD SLITRK6 FGA USP8 REN CC2D2A WT1 WDR35 CHRM3 POLE SDHC GREB1L NPHP3 WIPF1 GNA11 SF3B4 F2 HNF4A FAS DYNC2I1 LRP4 PDE6D OSGEP BBS1 HNRNPU GTF2IRD1 NEUROD2 CFI GPC4 LAGE3 LAMB2 LPIN1 SOX9 APOA1 MAX PDX1 MYLK EP300 TP53RK ADAT3 SMC3 STAG1 STAT4 SLC29A3 FOXE1 ITGB4 FGFR2 CLCN5 GATA3 ESCO2 MYH11 SLC34A1 ATP1A1 KDM6A RPGRIP1L MAD2L2 SPRY4 RPGRIP1L RFWD3 FANCE KRAS CCND1 TLR4 ERCC8 CD81 PEX19 PORCN PREPL DICER1 FANCA SCN1B ANTXR1 BRCA2 COL4A3 TBX1 BBS4 CHRNA3 C4A TREX1 KIAA0753 CAMKMT DCHS1 ANLN KANSL1 MMP1 CHD7 ELN TSC2 SETBP1 WT1 PEX10 MMUT FLNA SLC17A5 NEK8 LMX1B PNKP CFI ELP1 ALG9 TMEM237 TBL2 STK11 SLC7A7 CDKN2B WT1 RET NUP133 PEX5 PCK1 NIPAL4 RPS28 CASP10 AKT1 PRDM16 ASPM IFT27 ITGA3 NBN GCK CDKN1C TRNE SLC25A22 DCC COL7A1 WNT5A SHANK3 CFHR5 LIMK1 BBS10 FAM20A SASS6 SRY SLC34A1 PIGO FANCI LEMD3 CLEC7A SALL1 NOTCH2 NSD2 ZIC3 DYNC2LI1 BMP4 YAP1 NLRP3 NPHP3 CLDN19 OGG1 PIGA HLA-DPB1 ATP6V1B1 KCTD1 DMRT3 TRAF3IP1 PIEZO2 CTNNB1 VHL GANAB KLLN ITGA8 OCRL GPR35 TMEM67 LRP2 STAT5B NLRP3 ROBO2 HPRT1 MSH3 HYLS1 NEUROD1 BMPER MED25 FLCN SMS CTLA4 STS MDM2 TCF4 LIPN THOC6 PET100 PDX1 CACNA1D WDR73 EPG5 ERCC4 TREX1 BCOR KCNJ1 TRNH KIF1B IL6 PTPN22 DNMT3A CDC73 RFWD3 KANK2 RPL15 FGFR1 WDR19 BICC1 HNF1A EFEMP2 TTC8 ADA2 RPS15A HESX1 KMT2A STRA6 NR0B1 TMEM70 RBM10 PEX1 GATA3 WNT3 PYGM ARID2 TBX15 NR5A1 VHL BLM RPS27 FASLG CFHR3 COX14 PPP2R3C KIF7 AQP2 NPHP1 CYTB DDX6 COQ2 HBB ZIC3 POU3F4 MSH6 SCARB2 FLNA PPP3CA SLX4 LARGE1 HABP2 CLCN5 WDR73 PHF21A ITGB3 MDH2 NIPBL ITGA2 BBS2 PALB2 CFB KRT17 WDR11 MTRR PEX2 PGM3 IL7R STXBP1 ARL6IP6 FLI1 NF1 SON DSTYK CYP4F22 CHD7 HLA-B NARS2 BRCA2 APOE PAX6 RBM8A TIMMDC1 BCS1L GRIA3 TTC37 DICER1 SC5D OFD1 TMEM231 PALB2 NRAS SDHD SIX5 APOB TFAP2A HNF1B FREM1 PEX6 AGT SOX18 REST ANKLE2 SC5D TBX22 PRMT7 ZIC2 KCNJ10 TCTN3 GPC3 DVL1 B9D2 KCNQ1 NDUFAF3 HMGA2 CFHR1 SLC4A1 PDSS2 PIK3R2 BBS10 FOXP3 KYNU HNF1B FN1 PCSK9 FGFR2 SOX10 FANCB DMP1 KIF14 ENPP1 OSTM1 AKT1 KEAP1 PHC1 INS UMPS OCRL RPL26 DISP1 CDKN1C LEMD3 YWHAE CYP11B2 LRP4 NSUN2 TRRAP COLEC10 ATP7B CHST14 IL23R PTPN12 CHRM3 DHODH DHCR7 ZMIZ1 CHD4 RBM10 DPH1 LYZ KCNJ10 CWC27 OPLAH MASP1 MYCN KRAS PHYH CDC42 TMEM216 DNASE1L3 TASP1 CYP27A1 DACT1 IFT122 NDUFB3 HOXD13 RPL5 ROR2 COL4A1 USP8 RTTN MED25 PEX10 CCND2 MVK IFT27 SULT2B1 RREB1 CEP57 B9D2 CFI RAD51C COQ8B DLL4 ZNF592 PKDCC TBX1 CEP164 PIGT GEMIN4 DYNC2I2 PIK3CA KIAA0586 PTEN AMMECR1 COX20 DPH1 PEX3 FLNA GCDH RAI1 RMND1 PIK3CA MCPH1 HRAS AFF4 PTPN11 IGF2 KAT6B HNF1B IFT172 ND1 NDUFAF6 SCN2A RPS7 NDUFS3 PIGL SPP1 PLCD1 NSDHL NDUFAF2 WDPCP KAT6B TMEM67 CPT2 GLI3 FGFR1 BRIP1 CDKN1B NUP133 PRKCD POMT1 PIK3CA AHI1 PORCN FLNA CD46 FAH RAI1 TMEM67 BCOR NEU1 CYB561 CEP55 NADSYN1 NAA10 ATRX GDF6 MAX SLC12A3 CPT1A ADA C1QA UBR1 PIGN GDF6 IKZF1 UBE2T GALNT3 TSC2 CAD KYNU HMGA2 TTC21B DHX16 LTBP4 COL4A3 INF2 SKI STAT3 NRAS KCNA1 DCC RPS24 FKTN FLNA NDUFS2 TFAP2A RPL35 RPS17 SDHA COMT CDC73 SBDS SCNN1G GLA LRP5 BBS1 PIGV APRT LAMB3 PIEZO2 KCNQ1OT1 SLC36A2 ACTB NUP93 TBC1D20 SNAP29 CCDC28B ABCC8 PAX2 MBTPS2 FLII FN1 SALL1 CDKL5 SLC26A4 CC2D2A EBP NDUFAF5 XRCC4 FANCA NUP205 YAP1 PMM2 CLDN19 CEP290 ALPL ACP5 FLNA CPT2 STAT3 TRIM37 RPL31 WNT4 IFT140 CCN2 DLC1 SGPL1 NDUFAF3 SDHB EP300 HSPG2 TBCK IRF2BP2 CCNQ BUB1 MYO1E SHPK C3 PC NF1 CEP41 POMT2 DHCR24 ARID1B RMRP NUP133 PEX6 WAS ACSL4 MICOS13 KCNJ11 IGF2 H19-ICR B3GLCT CCR1 TPRKB FH HIRA LRIG2 TTC21B GSN PGK1 FOXI1 TLR2 MOCS2 CDKN1B TELO2 SSR4 CTLA4 DACT1 HLA-DRB1 FIBP SH2B1 RBM8A ALOXE3 CDC42 HNF1A TCTN2 VHL TBX3 FAT4 NABP1 FBN1 NUMA1 LMNB2 PTPRO ERCC8 LAGE3 FANCB FCGR2B SALL4 GBA DZIP1L MDM2 LAMA3 CDON NOTCH2 KAT6A AVPR2 STRADA BBS12 CLCN5 NRIP1 DYNC2I1 ARL3 NPHP1 WWOX PCK2 SI LRP5 WDR35 DYNC2I2 CTNNB1 SCNN1A SNRPB DHX37 SLX4 FGF8 ABCA12 PKD1 TRIP13 CDC73 BBS7 NPHP4 ELN NOTCH3 KMT2D DIS3L2 SMARCAL1 PKD2 TRNL1 WNT3 JMJD1C IARS1 TRNT1 VPS33A ARMC5 CREBBP CCR6 DIS3L2 LMX1B COX2 BRCA2 SLC25A20 GTF2I KNL1 AURKA ALG9 ACTG1 KYNU SOX4 GPC3 ATP6 WDR19 TRPC6 POR VDR LMNA ERCC4 THOC6 MBTPS2 GATA1 SLC1A1 COQ7 VPS33A GDF3 FH CACNA1D BBS9 PEX2 SETBP1 WT1 SIX3 FKRP GLA PEX13 RPL35A MNX1 ANTXR1 DSE ND6 HLA-B FLNA B3GLCT CPOX LEMD3 FREM1 DLL1 BBS4 NDUFAF3 SLC2A2 NDUFS4 SAA1 FGFR3 ABCC6 RBBP8 TRNS1 NCAPG2 COL14A1 YY1 RAG2 RPL11 TMEM107 DUSP6 PNPLA6 PLAGL1 MFSD2A CREBBP PDSS2 EVC2 DYNC2LI1 RARB MBTPS2 WFS1 ND4 TMEM126B NDUFAF1 MYOCD NAA10 TSC1 FAS DCHS1 SLC6A17 G6PC3 FLCN EXTL3 DYNC2I2 PAX1 PUS3 CTNS CDK6 SLC3A1 RAG1 VAC14 BUB1B ATRX IGF2 FANCD2 TBL1XR1 PEX12 ADAMTS13 DCDC2 ATP7A LMNA CYBC1 NPHP1 SEMA3A SMARCD1 MOCS1 CD109 TMEM67 LZTFL1 CA2 LMX1B GAS1 DYNC2H1 FRAS1 ERCC6 PIGY NEU1 GP1BA FANCL BTNL2 PGAP3 SMOC1 PLEC REST RPS29 ND2 TGIF1 HSPA9 PIGA ERCC8 ACVRL1 AGTR1 TCN2 MAFB NUBPL DDX59 GP1BB WNT4 WNT4 MAP3K7 ADA PIGY KLF11 NUP107 SALL4 C3 PACS1 GLI2 PKD1 LDHA CCDC141 FUZ MAP3K1 PEX14 C1QBP SLC12A3 LHX1 RPS26 GLI3 AR ZBTB16 SPART B2M AXIN2 CEP290 DYRK1A IL12A-AS1 UQCC2 MME MKKS CDKN1B STIL TP53 WDR4 BNC2 ACTG2 LMX1B ITGB4 SCARB2 ZAP70 AMMECR1 TMEM138 GNB1 NDUFV1 SCO2 HMOX1 IFT140 GRHPR CD96 CLIP2 PROKR2 PIGT GLI1 FGFR3 FANCF UMOD POR PRKCSH BAZ1B C8ORF37 WDR19 FLCN ETFB STOX1 AIP DICER1 GCM2 TMEM231 LDLR XRCC2 DNASE1L3 FGF23 SPRY2 GLIS2 HNF1A CDKN2C COLEC11 SIX1 MEN1 ATRX POU6F2 IFT172 ITGA2B SOX17 KMT2A CCDC22 TBC1D24 CEP290 INSR PKD2 INF2 DIS3L2 CORIN TNXB NDUFS8 TBC1D24 NLRP3 FOXRED1 CEP290 IFT80 EXT2 EXT2 NDUFB10 SLC2A9 COG1 XPNPEP3 CDK4 HBB CFH GABRD BRCA1 KCNAB2 USF3 GCK NDNF H19 EMP2 HDAC4 SDHD ND5 F5 SDHD IL2RG MEFV SERPINF2 RAB3GAP2 FIG4 ELP1 ASXL1 FGFR3 TXNL4A ARX NUP107 CASR KISS1R METTL5 FUT8 KITLG NDUFV2 TBX1 CLCN5 EYA1 ENPP1 IFT43 GPKOW COL4A4 FAS CCNQ NPHS1 COG6 ADAMTS3 PIGL PUF60 TRAPPC14 AGPAT2 NOD2 RAI1 HOGA1 CC2D2A IFT43 COL4A3 SIK1 TMEM237 SLC12A1 COPB2 SLC37A4 TRIM32 SEC63 TMEM126B INTS1 BMPER DZIP1L TRNW PEX5 CCND1 COPA FRAS1 NSD1 MLH1 NPM1 WDR73 FLCN FOXP1 ND6 GRHPR MYO5B TACR3 PEX7 AVIL AMMECR1 TBX18 PML ND2 CREBBP MYMK APC NADK2 TTC8 RPS10 CEP120 SMO PLG INTU CD46 ERCC6 ARNT2 SLC26A1 NDUFB9 SLC6A19 KIF1B CEP55 VHL CPT2 IQSEC2 ANOS1 HSD11B2 COA8 B9D1 LMAN1 ZEB2 UMOD GNAO1 ABCC8 FBXW11
Protein Mutations 4
C282T C677T K55R Y93H
HP:0000083: Renal insufficiency
Genes 449
ALOXE3 WT1 TRNT MMUT COL7A1 CFHR5 FXYD2 LIMK1 GSN ERCC8 LAGE3 BBS10 PGAM2 FAM20A NTRK1 DZIP1L FANCI MLXIPL LEMD3 NOTCH2 SALL1 SEC61A1 AGXT CLCN5 MAPKBP1 DYNC2I1 RYR1 NPHP3 CLDN19 NPHP3 HLA-DPB1 KCTD1 SCNN1A TRAF3IP1 SLX4 HPRT1 ABCA12 PKD1 CDC73 RPGRIP1L WDR19 TTC21B NPHP4 PRPS1 ELN SMARCAL1 OCRL SIX5 GPR35 PKD2 NPHP3 EIF2AK3 TP53RK RAD51 ERCC4 CCR6 NLRP3 LMX1B HPRT1 TGM1 EIF2AK3 GTF2I NPHP1 CACNA1S NSD1 FANCL CTLA4 STS KYNU MDM2 TCF4 WDR19 MAFB TRPC6 LIPN ERCC4 APRT TMEM67 INPP5E WDR73 TMEM67 ERCC4 PBX1 PTPN22 COL4A5 NPHP1 NPHP3 RASGRP1 SIX1 WT1 GLA WDR19 BICC1 COL4A1 SDCCAG8 DHDDS KMT2A FANCE RAD21 HLA-B GATA3 ALMS1 INVS PYGM NEK8 FANCM WT1 FASLG CFHR3 SAA1 MEFV MYCN NPHP1 OSGEP NPHP1 LRIG2 FAM20A FLT1 INVS HBB SLC3A1 SLC22A12 SCARB2 PNPLA6 HLA-DRB1 JAG1 ALOX12B DYNC2LI1 VANGL1 CLCN5 WDR73 CLDN16 NIPBL FANCG RAD51C DNAJB11 DYNC2H1 MYOCD TSC1 FAS CFB OCRL UBAC2 MUC1 MST1 PRDX1 PUS3 CRB2 CYP4F22 HPSE2 HLA-B NPHP4 MMACHC APOE ALMS1 PAX6 AQP2 HDAC8 TRAF3IP1 WT1 TBC1D8B OCLN HELLPAR DCDC2 THBD NPHP4 NPHP1 TMEM231 STAT2 CSPP1 PALB2 SIX5 IRAK1 HNF1B SOX18 LZTFL1 ERAP1 SMC1A NPHS2 SARS2 TMEM231 PRTN3 CD151 ERCC6 PKHD1 CFHR1 BTNL2 HNF1B FN1 FANCB ANKS6 SDCCAG8 SLC7A9 IL12A ERCC8 OCRL TCN2 IRF5 NUP85 NUP107 C3 PKD1 BBIP1 LDHA FUZ IL23R HLA-DPA1 LHX1 CLPB PEX7 CHD4 CFH PAX2 NPHS1 FAN1 KLRC4 CCND1 CEP290 MYCN IL12A-AS1 IFT80 BSND LCAT IFT122 TRNK MME COL4A1 AP2S1 BNC2 HMBS TMEM237 LMX1B GANAB AMMECR1 TMEM138 GATM CTNS STAT4 SETD2 SULT2B1 IFT172 IFT140 SDR9C7 TMEM216 GRHPR CFI RAD51C COQ8B ZNF423 TRNL1 ZNF592 PKDCC ALDOB CLIP2 OFD1 CEP164 IQCB1 SETD5 FANCF DYNC2I2 EHMT1 UMOD KIAA0586 MYH9 BAZ1B AGXT CFH MAGI2 BICC1 MMUT GCDH FANCD2 CD2AP RMND1 HOXA13 STOX1 RFC2 HPS1 GCM2 HNF1B XRCC2 DNASE1L3 IFT172 SPRY2 GLIS2 NDUFAF6 MEN1 SPP1 APOL1 HRAS TMEM67 CPT2 BRIP1 MOCOS TMEM260 NUP160 PRKCD CEP290 DSTYK PKD2 INF2 SLC7A7 AHI1 CC2D2A CPT2 CORIN CD46 FAH CAV1 CEP83 TMEM67 PGK1 IL10 CLDN10 MEFV COG1 XPNPEP3 MYD88 CLCNKA CFH DGKE SCNN1B WDR19 BRCA1 KCNE5 PLCE1 FANCC IKZF1 UBE2T CDC73 LAMB2 TSC2 COL4A4 MEFV ERCC6 CLCNKB CC2D2A SCNN1B AVPR2 TTC21B ELP1 WDR35 CHRM3 INF2 NUP107 ACTN4 HNF4A FAS CDC73 CLCN5 EYA1 SCNN1G GTF2IRD1 GLA CFI FAS LAMB2 APRT LPIN1 REN NUP93 SMC3 NOD2 STAT4 PAX2 CLCN5 CC2D2A FN1 GATA3 IFT43 COL4A3 TMEM237 SALL1 SLC34A1 SLC37A4 APC2 ARHGDIA FANCA CTNS NUP205 MAD2L2 PPOX PKHD1 CEP290 RPGRIP1L TMEM126B ACP5 CPT2 WDR19 RFWD3 DZIP1L TLR4 ERCC8 IFT140 CCN2 SGPL1 RPGRIP1L SLC30A9 BRCA2 COL4A3 UMOD GRHPR AVIL AMMECR1 CHRNA3 TMEM67 C4A CCNQ TBX18 MYO1E ANLN MMP1 SHPK C3 ELN CEP290 WT1 ACSL4 MMUT PHYH LMX1B CEP120 CFI CD46 TBL2 ERCC6 SLC26A1 CCR1 TPRKB PAX2 LRIG2 HPRT1 TTC21B GSN CPT2 NUP133 PGK1 HSD11B2 NIPAL4 IFT27 DACT1 ITGA3 UMOD HLA-DRB1 IQCB1 CASP10 PTPN22 SH2B1 TRNE
Protein Mutations 2
L31F Y93H
SNP 0