Full data view for gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.933+3A>C r.spl? p.? - Unknown - pathogenic g.45797835T>G g.45332163T>G MUTYH(NM_001128425.2):c.933+3A>C - MUTYH_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C; 9034A>C (AF527839); IVS10+3 - MUTYH_000097 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 0/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Eliason 2005 - - Unknown - 1/219 APC neg FAP patients; 1/306 MLH1 and MSH2 neg HNPCC patients - - - DNA SEQ - - cancer, colon - PubMed: Eliason 2005 - - - United States - - - - - 2 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_11 PubMed: Croitoru 2007, PubMed: O Shea 2008 - F - Canada - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 O Shea , 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - - - DNA DHPLC, SEQ leukocyte ex 1-16, screen MUTYH gene (index) CRC 15523092_12 PubMed: Croitoru 2007, PubMed: O Shea 2008 - F - Canada - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Bouguen 2007 - - Unknown - - - - - DNA SEQ - - cancer, colon - PubMed: Bouguen 2007 APC negative patients M - France white - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Parent #2 - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Nielsen 2005; PubMed: Nielsen 2009a; PubMed: Nielsen 2009b; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2005, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b, PubMed: Vogt 2009 Among 170 APC negative Dutch FAP patients M - (Netherlands) - - - - - 1 Carli Tops
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Sampson 2003 - - Unknown - - - - - DNA SEQ - - ? PMID12853198_2 PubMed: Sampson 2003 - - - United Kingdom (Great Britain) white - - - - 1 Carli Tops
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Olschwang 2007 - - Unknown - - - - - DNA SEQ - - CRC - PubMed: Olschwang 2007 No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France - - - - - - - - 2 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C (Gly250TrpfsX7) - MUTYH_000097 Alamut: donor site intron 10 affected; predicted skip exon 10 Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - Clinical Genetics, LUMC, Leiden, NL - M - Netherlands - - - - - 1 Carli Tops
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Parent #1 - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - MGZ, Munchen, DE - - Unknown - - - - - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - - - - 1 Elke Holinski-Feder
+?/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - likely pathogenic g.45797835T>G g.45332163T>G 891+3A>C; 9034A>C (AF527839); IVS10+3 - MUTYH_000097 predicted to retain intron 10 in coding region of transcript with termination codon 27 bases upstream of 5 prime end of intron; www.fruitfly.org; Kairupan , 2005 PubMed: Kairupan 2005 - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? 15761860_13 PubMed: Kairupan 2005 among 120 APC mutation negative Australian polyposis patients M - Australia - - - - - 1 Astrid Out
+?/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - likely pathogenic g.45797835T>G g.45332163T>G 891+3A>C; 9034A>C (AF527839); IVS10+3 - MUTYH_000097 predicted to retain intron 10 in coding region of transcript with termination codon 27 bases upstream of 5 prime end of intron; www.fruitfly.org; Kairupan , 2005 PubMed: Kairupan 2005 - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? 15761860_18 PubMed: Kairupan 2005 among 120 APC mutation negative Australian polyposis patients M - Australia - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C; IVS10+3A>C - MUTYH_000097 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_8 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C; IVS10+3A>C - MUTYH_000097 In adenomas, carcinomas and surrounding normal mucosa: IHC MUTYH: strong granular cytoplasmic staining without any nuclear expression (in patients without MUTYH mutations nuclear and cytoplasmatic stainting); strong granular cytoplasmic staining without any nuclear expression (= aberrant staining pattern) PubMed: Di Gregorio 2006 - - Germline - - - - - DNA IHC, SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16890597_18 PubMed: Di Gregorio 2006 IHC study of 20 tumor samples from 18 biallelic MUTYH carriers F - Italy - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - Medical Genetics, University Hospital Basel, Basel, CH - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Medical Genetics, University Hospital Basel, Basel, CH - - - Switzerland - - - - - 1 Karl Heinimann
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - Medical Genetics, University Hospital Basel, Basel, CH - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (relative) ? - Medical Genetics, University Hospital Basel, Basel, CH - - - Switzerland - - - - - 1 Karl Heinimann
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - Medical Genetics, University Hospital Basel, Basel, CH - - Unknown - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - Medical Genetics, University Hospital Basel, Basel, CH - - - Switzerland - - - - - 1 Karl Heinimann
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Parent #2 - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Vogt 2009, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009, PubMed: Nielsen 2009a, PubMed: Nielsen 2009b - M - Netherlands - - - - - 1 Carli Tops
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Vogt 2009 - - Germline - 5/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 5/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Aretz 2006 - - Germline - 5/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006 - - - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 5/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 5/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (part?) (relative) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Aretz 2006; PubMed: Vogt 2009 - - Germline - 5/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) CRC - PubMed: Aretz 2006, PubMed: Vogt 2009 - F - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, skin - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Vogt 2009 - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) ? - PubMed: Vogt 2009 - M - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 monoallelic PubMed: Aretz 2006 - - Germline - 5/658 - - - DNA SEQ leukocyte screen MUTYH gene (index) polyposis 16557584_c.933+3_mono PubMed: Aretz 2006 allele frequency among 329 polyposis patients - - (Germany) - - - - - 1 Stefan Aretz
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 only variants reported, not genotypes; duplicate or new occurrence? (also reported in Kairupan , 2005) Genetics, John Hunter Hospital, Newcastle, AU - - Germline - - - - - DNA SEQ - screen MUTYH gene ? - Genetics, John Hunter Hospital, Newcastle, AU - - - Australia - - - - - 1 Rodney Scott
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Jenkins 2005 - - Germline - - - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (index) CRC 16492921_c536_c933+3 PubMed: Jenkins 2005 kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk - - Canada - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C - MUTYH_000097 - PubMed: Jenkins 2005 - - Germline - - - - - DNA DHPLC, SEQ leukocyte screen MUTYH gene (index) CRC 16492921_c933+3_1187 PubMed: Jenkins 2005 kin-cohort study; estimate CRC risk; 300 1st-degree relatives of 39 CRC cases with monoallelic (27) or biallelic (12) pathogenic MUTYH variants; monoallelic: 3x and biallelic 50x increased risk - - Canada - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C; IVS10+3A>C - MUTYH_000097 - PubMed: Avezzù 2008 - - Germline - 1/878 (0.1%) - - - DNA SEQ leukocyte or normal FFPE tissue specific genotyping, test known variants (index) cancer, colon - PubMed: Avezzù 2008 439 CRC patients: two (0.5%) biallelic carriers and two (0.5%) monoallelic carriers; 247 controls: one (0.4%) monoallelic carrier F - Italy - - - - - 1 Astrid Out
+/. 10i c.933+3A>C r.789_933del p.(Gly264TrpfsX7) - Unknown - pathogenic g.45797835T>G g.45332163T>G 891+3A>C (Gly250TrpfsX7) - MUTYH_000097 Fruitfly: abolished score for splice donor site; APC variant: p.I1055I PubMed: Kanter-Smoler 2006 - - Germline - 1/30 alleles - - - DNA SEQ - screen MUTYH gene (index) CRC PMID16616356_5 PubMed: Kanter-Smoler 2006 among 15 tested APC-mutation-negative polyposis patients F - Sweden - - - - - 1 Astrid Out
+/. - c.933+3A>C r.(?) p.? - Unknown - pathogenic g.45797835T>G g.45332163T>G - - MUTYH_000097 - PubMed: Baert-Desurmont 2018 - - Germline - - - - - DNA ? - - FAP - PubMed: Baert-Desurmont 2018 - - - France - - - - - 1 Stephanie Baert-Desurmont
+/. 10i c.933+3A>C r.spl? p.Gly264Trpfs*7 - Unknown - NA g.45797835T>G g.45332163T>G 16616356_933_3_RT_PCR - MUTYH_000097 cDNA analysis; Skipping exon 10 PubMed: Kanter-Smoler 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.933+3A>C r.(?) p.? - Unknown ACMG pathogenic g.45797835T>G g.45332163T>G - - MUTYH_000097 ACMG grading: PP1,PM3,PM2,PS3,PP3; Patient with Colon ascendens - carzinoma and multiple polyps (high grade dysplasia; C. transv., Rectum).; reported in Sampson 2003. Lancet 362: 39; Pin 2013. Int J Cancer 132: 1060 - - rs587780751 Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+/. - c.933+3A>C r.(?) p.? - Unknown ACMG pathogenic g.45797835T>G g.45332163T>G - - MUTYH_000097 ACMG grading: PS3,PM3,PP1,PM2,PP3; reported in Sampson 2003. Lancet 362: 39; Pin 2013. Int J Cancer 132: 1060 - - rs587780751 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.933+3A>C r.spl? p.? - Unknown - pathogenic g.45797835T>G - MUTYH(NM_001128425.2):c.933+3A>C - MUTYH_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.