Unique variants in gene MUTYH


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

359 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

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     

Owner     
-?/. 1 - c.-3396C>T likely benign r.(?) p.(=) - g.45809322G>A - TOE1(NM_025077.3):c.1481G>A (p.(Arg494His)) - TESK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2985G>A likely benign r.(?) p.(=) - g.45808911C>T - TOE1(NM_025077.3):c.1070C>T (p.(Thr357Ile)) - TOE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2937C>T likely benign r.(?) p.(=) - g.45808863G>A - TOE1(NM_025077.3):c.1022G>A (p.(Arg341His)) - MUTYH_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-2907G>A likely benign r.(?) p.(=) - g.45808833C>T - TOE1(NM_025077.3):c.992C>T (p.A331V) - TESK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-2747G>A VUS r.(?) p.(=) - g.45808673C>T - TOE1():c.911C>T (p.Ser304Leu) - TOE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.-2236T>A likely pathogenic r.(?) p.(=) - g.45808162A>T - TOE1(NM_025077.3):c.599A>T (p.Tyr200Phe) - TESK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.-1266C>T VUS r.(?) p.(=) - g.45807192G>A - TOE1():c.284G>A (p.Arg95His) - TOE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.-1072C>G likely pathogenic r.(?) p.(=) - g.45806998G>C - TOE1(NM_025077.3):c.219G>C (p.Arg73Ser) - TESK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 13 _1 c.-216-3949T>C VUS r.(=) p.(=) - g.45810091A>G - - - MUTYH_000039 1 more item PubMed: Agalliu 2009, DUPLICATE – to be removed - rs9429072 Unknown, Germline - 625/2520=24.8%, 151/290=52.1%, 637/2494=25.5%, 78/158=49.4% - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 7 _1 c.-216-2721C>T VUS r.(=) p.(=) - g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157, NT_032977.9:g.15780781G>A - MUTYH_000288 1 more item PubMed: Schafmayer 2007, DUPLICATE – to be removed - rs9429157 Germline - 1 more item - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 2 _1 c.-216-290G>A VUS r.(?), r.(=) p.(=) - g.45806432C>T - - - MUTYH_000244 - DUPLICATE – to be removed - rs3219463 Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 3 _1 c.-216-64G>A VUS r.(=) p.(=) - g.45806206C>T - -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008, DUPLICATE – to be removed - rs3219465 Unknown, Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 2 _1 c.-177C>T VUS r.(=) p.(=) - g.45806103G>A - - - MUTYH_000001 - Clinical Genetics, LUMC, Leiden, NL, DUPLICATE – to be removed - rs3219466 Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
-?/. 1 - c.-177T>C likely benign r.(?) p.(=) - g.45806103A>G - MUTYH(NM_001128425.1):c.-177T>C (p.?) - MUTYH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 _1 c.-165C>T VUS r.(=) p.(=) - g.45806091G>A - - - MUTYH_000083 Frequency in 62 probands New York, 13 Milan, 5 Madrid DUPLICATE – to be removed, PubMed: Peterlongo 2006 - rs3219466 Germline, Unknown - 1/160 alleles - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/., -/. 19 _1, 1 c.-127C>T VUS, benign r.(=), r.(?) p.(=) - g.45806053G>A - MUTYH(NM_001128425.1):c.-127C>T (p.?), ex1+8C>T - MUTYH_000002 Frequency in 62 probands New York, 13 Milan, 5 Madrid, VKGL data sharing initiative Nederland Clinical Genetics, LUMC, Leiden, NL, Molecular Medicine, AUH, Skejby, Aarhus, DK, PubMed: Zhang 2006, 5 more items - rs3219466 Germline, Unknown, CLASSIFICATION record - 6/230, 4/160 alleles, 0.02, 102/3186 (3.2%), 98/2522 (3.9%), 1 more item - - - Carli Tops, Mette Gaustadnes, Astrid Out, Angela Solano & F Cardoso, VKGL-NL, InSiGHT - John-Paul Plazzer
?/. 2 _1 c.-83G>A VUS r.(=), r.(?) p.(=) - g.45806009C>T - - - MUTYH_000229 - DUPLICATE – to be removed - rs28372898 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 _1 c.-56G>C VUS r.(=) p.(=) - g.45805982C>G - - - MUTYH_000011 new in this paper; not in 500 control chromosomes PubMed: Gómez-Fernández 2009, DUPLICATE – to be removed - - Unknown, Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 1 13 c.?C>A VUS r.? p.? - g.? - 1249C>A (Leu406Met) - MUTYH_000000 - - - - Unknown - - - - - Elke Holinski-Feder
?/. 2 12 c.?G>A VUS r.(?) p.(?) - g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - - - Elke Holinski-Feder
+?/. 1 - c.2T>C ACMG: 4 r.(?) p.Met1? - g.45805925A>G - - - MUTYH_000360 ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS - - rs865954220 Germline - - - - - Andreas Laner
?/. 2 1 c.8C>T VUS r.(=) p.(Pro3Leu) - g.45805919G>A - - - MUTYH_000178 - DUPLICATE – to be removed, MGZ, Munchen, DE - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Elke Holinski-Feder
?/. 2 1 c.20G>A VUS r.(20g>a) p.(Arg7His) - g.45805907C>T - 20G>A (Arg7His) - MUTYH_000256 - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK, DUPLICATE – to be removed - - Unknown, Germline - - - - - Rikke Veggerby Groenlund, InSiGHT - John-Paul Plazzer
+/., ?/. 3 1i c.36+1G>A pathogenic, VUS r.spl p.0? - g.45805890C>T - - - MUTYH_000224 MSH2: c.1729T>C, 1 more item Redeker (unpublished); AMC, Amsterdam, NL, PubMed: Niessen et al. 2006, DUPLICATE – to be removed - - Unknown, Germline - - - - - Bert Redeker, Astrid Out, InSiGHT - John-Paul Plazzer
-/., ?/. 9 1i c.36+11C>T benign, VUS r.(=) p.(=) - g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A, IVS1+11C>T - MUTYH_000003 VKGL data sharing initiative Nederland, www.fruitfly.org: no splicing effect PubMed: Tao 2008, Clinical Genetics, LUMC, Leiden, NL, PubMed: Zhou 2005, DUPLICATE – to be removed - rs2275602 CLASSIFICATION record, Unknown, Germline - 2,1% of n=84 - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, Astrid Out, VKGL-NL_AMC, Carli Tops, VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer
?/. 2 1i c.36+54G>A VUS r.(=), r.(?) p.(=) - g.45805837C>T - - - MUTYH_000230 - DUPLICATE – to be removed - rs17838009 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+75C>G VUS r.(=) p.(=) - g.45805816G>C - - - MUTYH_000020 - DUPLICATE – to be removed, Clinical Genetics, LUMC, Leiden, NL - rs3219467 Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Carli Tops
?/. 2 1i c.36+267C>T VUS r.(=) p.(=) - g.45805624G>A - - - MUTYH_000200 1 more item DUPLICATE – to be removed, PubMed: Goto 2008 - - Germline, Unknown - 1/46 alleles - - - InSiGHT - John-Paul Plazzer, Astrid Out
-/. 1 - c.36+325C>G benign r.(=) p.(=) - g.45805566G>C - MUTYH(NM_001128425.1):c.36+325C>G, TOE1(NM_025077.3):c.-359G>C - MUTYH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 14 1i c.36+325G>C VUS r.spl, r.? p.? - g.45805566C>G - IVS1+5G>C; 156+5G>C, 35+325G>C, 1 more item - MUTYH_000004 The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA, 1 more item PubMed: Yamaguchi 2002, PubMed: Plotz 2012, MGZ, Munchen, DE, PubMed: Kambara 2004, 4 more items - rs3219468 Unknown, Germline - 1/54 controls, 0.01 (?); n=225 - - - Astrid Out, Guido Plotz, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer
?/. 2 1i c.36+478C>G VUS r.(=), r.(?) p.(=) - g.45805413G>C - - - MUTYH_000231 - DUPLICATE – to be removed - rs3219469 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+721C>T VUS r.(=), r.(?) p.(=) - g.45805170G>A - - - MUTYH_000232 - DUPLICATE – to be removed - rs3219470 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+830G>A VUS r.(=), r.(?) p.(=) - g.45805061C>T - - - MUTYH_000233 - DUPLICATE – to be removed - rs1140199 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+845G>C VUS r.(=), r.(?) p.(=) - g.45805046C>G - - - MUTYH_000234 - DUPLICATE – to be removed - rs6696152 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+847T>C VUS r.(=), r.(?) p.(=) - g.45805044A>G - - - MUTYH_000235 - DUPLICATE – to be removed - rs1140200 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+852A>G VUS r.(=), r.(?) p.(=) - g.45805039T>C - - - MUTYH_000236 - DUPLICATE – to be removed - rs1140201 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+991_36+992insA VUS r.(=), r.(?) p.(=) - g.45804899_45804900insT - - - MUTYH_000237 - DUPLICATE – to be removed - rs60609540 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1464_36+1465del VUS r.(?), r.(=) p.(=) - g.45804426_45804427del - - - MUTYH_000291 - DUPLICATE – to be removed - rs71667141 Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 2 1i c.36+1466_36+1467insAC VUS r.(=), r.(?) p.(=) - g.45804424_45804425insGT - - - MUTYH_000292 - DUPLICATE – to be removed - rs35518179 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1467_36+1468insAC VUS r.(=), r.(?) p.(=) - g.45804423_45804424insGT - - - MUTYH_000293 - DUPLICATE – to be removed - rs10638672 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 3 1i c.36+1474dup VUS r.(?), r.(=) p.(=) - g.45804417dup - - - MUTYH_000290 - DUPLICATE – to be removed - rs11403361, rs63261960 Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 2 1i c.36+1563dup VUS r.(=), r.(?) p.(=) - g.45804328dup - - - MUTYH_000294 - DUPLICATE – to be removed - rs34686049 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1802G>A VUS r.(=), r.(?) p.(=) - g.45804089C>T - - - MUTYH_000295 - DUPLICATE – to be removed - rs3219471 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1841G>A VUS r.(=) p.(=) - g.45804050C>T - IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript) - MUTYH_000164 - PubMed: Yamaguchi 2002, DUPLICATE – to be removed - rs3219472 Unknown, Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 2 1i c.36+1945C>T VUS r.(=), r.(?) p.(=) - g.45803946G>A - - - MUTYH_000297 - DUPLICATE – to be removed - rs3219473 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1946dup VUS r.(=), r.(?) p.(=) - g.45803945dup - - - MUTYH_000296 - DUPLICATE – to be removed - rs35804643 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+2351C>T VUS r.(=), r.(?) p.(=) - g.45803540G>A - - - MUTYH_000298 - DUPLICATE – to be removed - rs7522089 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+2478T>C VUS r.(=), r.(?) p.(=) - g.45803413A>G - - - MUTYH_000299 - DUPLICATE – to be removed - rs3219474 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+2774G>A VUS r.(=), r.(?) p.(=) - g.45803117C>T - - - MUTYH_000300 - DUPLICATE – to be removed - rs3219475 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2653C>A VUS r.(=), r.(?) p.(=) - g.45802836G>T - - - MUTYH_000301 - DUPLICATE – to be removed - rs61789858 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2487T>G VUS r.(=), r.(?) p.(=) - g.45802670A>C - - - MUTYH_000245 - DUPLICATE – to be removed - rs3219476 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2139T>C VUS r.(=), r.(?) p.(=) - g.45802322A>G - - - MUTYH_000302 - DUPLICATE – to be removed - rs3219477 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2002T>C VUS r.(=), r.(?) p.(=) - g.45802185A>G - - - MUTYH_000303 - DUPLICATE – to be removed - rs3219478 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1960G>C VUS r.(=) p.(=) - g.45802143C>G - IVS1+3427 C/G (beta transcript); NM_001048174.1: -6-1960G>C (beta transcript) - MUTYH_000165 - PubMed: Yamaguchi 2002, DUPLICATE – to be removed - rs3219479 Unknown, Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 2 1i c.37-1798G>A VUS r.(=), r.(?) p.(=) - g.45801981C>T - - - MUTYH_000304 - DUPLICATE – to be removed - rs3219480 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1747T>C VUS r.(=), r.(?) p.(=) - g.45801930A>G - - - MUTYH_000305 - DUPLICATE – to be removed - rs28871870 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1192T>G VUS r.(=), r.(?) p.(=) - g.45801375A>C - - - MUTYH_000306 - DUPLICATE – to be removed - rs7550250 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1074C>T VUS r.(=), r.(?) p.(=) - g.45801257G>A - - - MUTYH_000307 - DUPLICATE – to be removed - rs3219481 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1040A>G VUS r.(=), r.(?) p.(=) - g.45801223T>C - - - MUTYH_000308 - DUPLICATE – to be removed - rs3219482 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1015A>G VUS r.(=), r.(?) p.(=) - g.45801198T>C - - - MUTYH_000309 - DUPLICATE – to be removed - rs3219483 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-89dup VUS r.(=), r.(?) p.(=) - g.45800272dup - - - MUTYH_000310 - DUPLICATE – to be removed - rs35203418 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-19C>G VUS r.(=) p.(=) - g.45800202G>C - - - MUTYH_000087 - DUPLICATE – to be removed, PubMed: Olschwang 2007 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 1 1i c.37+75C>G VUS r.(?) p.(=) - g.45800108G>C - - - MUTYH_000358 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso
?/. 2 2 c.39C>T VUS r.(39c>u) p.(Ala13Ala) - g.45800181G>A - - - MUTYH_000023 new in this paper; not in 500 control chromosomes PubMed: Gómez-Fernández 2009, DUPLICATE – to be removed - - Unknown, Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
?/. 3 2 c.42C>T VUS r.(42c>u) p.(Ile14Ile) - g.45800178G>A - - - MUTYH_000262 - Molecular Oncology, CRCM-UMR, Marseille, FR, PubMed: Aretz 2006, DUPLICATE – to be removed - - Unknown, Germline - 1/658 - - - Sylviane Olschwang, Stefan Aretz, InSiGHT - John-Paul Plazzer
+/. 2 2 c.49A>T pathogenic r.(49a>u) p.(Lys17X) - g.45800171T>A - - - MUTYH_000179 - DUPLICATE – to be removed, MGZ, Munchen, DE - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Elke Holinski-Feder
?/., -?/. 16 2 c.53C>T VUS, likely benign r.(53c>u), -, r.(?) p.(Pro18Leu), p.Pro18Leu MTS g.45800167G>A - P18L, 18811933_test_53, 18811933_test_53_74, MUTYH(NM_001128425.1):c.53C>T (p.P18L) - MUTYH_000024 variants in cis, P18L and G25D on same allele (cloning-sequencing analysis), 5 more items PubMed: Chen 2008, DUPLICATE – to be removed, PubMed: Zhang 2006, PubMed: Kim 2007, PubMed: Kim 2007, 3 more items - - Germline, In vitro (cloned), Unknown, CLASSIFICATION record - 6/276 alleles, 3/686 alleles, 10/202, 3/258, 1/124, 3/192, 1/132 - - - Astrid Out, InSiGHT - John-Paul Plazzer, Carli Tops, VKGL-NL
+/., +?/. 3 2 c.55C>T pathogenic, likely pathogenic r.(55c>u), r.(?) p.(Arg19X), p.(Arg19*) - g.45800165G>A - MUTYH(NM_001048171.1):c.55C>T (p.(Arg19Ter), p.(Arg5Ter)) - MUTYH_000205 VKGL data sharing initiative Nederland PubMed: Vogt 2009, DUPLICATE – to be removed - - Germline, CLASSIFICATION record - - - - - Stefan Aretz, VKGL-NL, InSiGHT - John-Paul Plazzer
?/. 2 2 c.56G>A VUS r.(56g>a) p.(Arg19Gln) - g.45800164C>T - - - MUTYH_000153 - Clinical Genetics, LUMC, Leiden, NL, DUPLICATE – to be removed - - Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 2 2 c.62C>T VUS r.(62c>u) p.(Ala21Val) - g.45800158G>A - - - MUTYH_000146 - DUPLICATE – to be removed, PubMed: Olschwang 2007 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/., -/. 75 2 c.64G>A VUS, benign r.(64g>a), r.(?), - p.(Val22Met), p.Val22Met - g.45800156C>T - M22V, MUTYH(NM_001128425.1):c.64G>A (p.V22M), V22M, 18534194_glycosylase_V22M, (Val22Met), 1 more item - MUTYH_000005 VKGL data sharing initiative Nederland, In N-terminal mitochondrial targeting signal (Shinmura 2001), 8 more items PubMed: Küry 2007, PubMed: Schafmayer 2007, PubMed: Agalliu 2009, Clinical Genetics, LUMC, Leiden, NL, 28 more items - rs3219484 Unknown, Germline, CLASSIFICATION record, In vitro (cloned) - 6/200, 178/2512=7.1%, 3/286=1.0%, 183/2496=7.3%, 4/158=2.5%, 4/58 (6.9%), 4/60 (6.7%), 15/230, 16 more items - - - Astrid Out, Carli Tops, VKGL-NL_Leiden, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen, Mette Gaustadnes, Rodney Scott, Kristina Lagerstedt Robinson, Elke Holinski-Feder, Florentia Fostira, VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer
?/. 1 - c.64G>T VUS r.(?) p.(Val22Leu) - g.45800156C>A - MUTYH(NM_001128425.1):c.64G>T (p.V22L) - MUTYH_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -?/. 16 2 c.74G>A VUS, likely benign r.(74g>a), -, r.(?) p.(Gly25Asp), p.Gly25Asp MTS g.45800146C>T - G25D, 18811933_test_53_74, 18811933_test_74, 73G>A (?) G25D, 1 more item - MUTYH_000026 P18L and G25D on same allele (cloning-sequencing analysis), VKGL data sharing initiative Nederland, 4 more items PubMed: Chen 2008, DUPLICATE – to be removed, PubMed: Zhang 2006, PubMed: Kim 2007, PubMed: Kim 2007, 3 more items - - Germline, In vitro (cloned), Unknown, CLASSIFICATION record - 6/276 alleles, 3/686 alleles, 10/202, 3/258, 1/124, 3/192, 1/132 - - - Astrid Out, InSiGHT - John-Paul Plazzer, Carli Tops, VKGL-NL
+?/., +/. 4 2 c.91del likely pathogenic, pathogenic r.(91del), r.(?) p.(Ala31ProfsX27), p.(Ala31Profs*27) - g.45800129del - (Ala31ProfsX46), MUTYH(NM_001128425.1):c.91delG (p.A31Pfs*27) - MUTYH_000116 VKGL data sharing initiative Nederland DUPLICATE – to be removed, Clinical Genetics, LUMC, Leiden, NL - - Germline, CLASSIFICATION record - - - - - InSiGHT - John-Paul Plazzer, Carli Tops, VKGL-NL
?/. 2 2 c.98A>C VUS r.(98a>c) p.(Gln33Pro) - g.45800122T>G - - - MUTYH_000264 - Molecular Oncology, CRCM-UMR, Marseille, FR, DUPLICATE – to be removed - - Unknown, Germline - - - - - Sylviane Olschwang, InSiGHT - John-Paul Plazzer
-/. 1 - c.141G>A benign r.(?) p.(=) - g.45800079C>T - MUTYH(NM_001128425.1):c.141G>A (p.=) - TOE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 2i c.156+5G>C pathogenic r.spl p.? - g.45800059C>G - 156+5G>C ? - MUTYH_000318 - DUPLICATE – to be removed - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Elke Holinski-Feder
?/., -/. 16 2i c.157+30A>G VUS, benign r.(=), r.(?) p.(=) - g.45800033T>C - MUTYH(NM_001128425.1):c.157+30A>G (p.?), 156+30A>G, IVS2+30A>G - MUTYH_000006 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected, 2 more items PubMed: Küry 2007, PubMed: Görgens 2006, PubMed: Görgens 2007, PubMed: Peterlongo 2006, 5 more items - rs3219485 Unknown, Germline, CLASSIFICATION record - 1/58 (1.7%), 3/60 (5.0%), 3/160 alleles, 23/540 (4.3%), 10/206 (4.9%), >0.01, 9,2% of n=84 - - - Astrid Out, VKGL-NL_Rotterdam, Elke Holinski-Feder, VKGL-NL_Nijmegen, Angela Solano & F Cardoso, InSiGHT - John-Paul Plazzer
?/. 5 2i c.157+75G>A VUS r.(=) p.(=) - g.45799988C>T - IVS2+75G>A - MUTYH_000154 www.fruitfly.org: no splicing effect PubMed: Out 2009, DUPLICATE – to be removed, PubMed: Al-Tassan 2003, PubMed: Zhou 2005 - - Germline, Unknown - 1.1% of n=84 - - - Carli Tops, InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 2i c.157+136G>A VUS r.(=) p.(=) - g.45799927C>T - - - MUTYH_000156 - PubMed: Out 2009, DUPLICATE – to be removed - - Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 3 2i c.157+151G>A VUS r.(=) p.(=) - g.45799912C>T - - - MUTYH_000155 - PubMed: Out 2009, DUPLICATE – to be removed - rs3219486 Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 2 3 c.158C>G VUS r.(158c>g) p.(Ala53Gly) - g.45799275G>C - 158-42C>G (?) - MUTYH_000265 1 more item Molecular Oncology, CRCM-UMR, Marseille, FR, DUPLICATE – to be removed - - Unknown, Germline - - - - - Sylviane Olschwang, InSiGHT - John-Paul Plazzer
-?/., ?/. 2 - c.167G>T likely benign, ACMG: 3 r.(?) p.(Gly56Val), p.Gly56Val - g.45799266C>A - MUTYH(NM_001128425.1):c.167G>T (p.G56V) - MUTYH_000357 VKGL data sharing initiative Nederland, 1 more item - - rs587781374 CLASSIFICATION record, Germline - - - - - VKGL-NL, Andreas Laner
-?/. 1 - c.222G>A likely benign r.(?) p.(=) - g.45799211C>T - MUTYH(NM_001128425.1):c.222G>A (p.=) - HPDL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 3 c.224T>A VUS r.(224u>a), - p.(Val75Glu), p.Val75Glu - g.45799209A>T - 182T>A (Val61Glu), 20848659_V47E - MUTYH_000028 1 more item DUPLICATE – to be removed, PubMed: Halford 2003, PubMed: Goto 2010 - - Germline, Unknown, In vitro (cloned) - - - - - InSiGHT - John-Paul Plazzer, Carli Tops
?/. 1 - c.236C>A VUS r.(?) p.(Ala79Asp) - g.45799197G>T - MUTYH(NM_001128425.1):c.236C>A (p.Ala79Asp) - HPDL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 3 3 c.241_242del pathogenic, likely pathogenic r.(241_242del) p.(Val81LeufsX11) - g.45799191_45799192del - 199_200del; 199GT (Val67LeufsX11), 199_200del (Val67LeufsX11) - MUTYH_000027 1 more item DUPLICATE – to be removed, PubMed: Di Gregorio 2006, PubMed: Venesio 2004 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out, Carli Tops
?/. 2 3 c.252C>T VUS r.(252c>u) p.(Tyr84Tyr) - g.45799181G>A - 210C>T (Tyr70Tyr) - MUTYH_000282 Alamut: putative strong splice acceptor site after c.263 slightly stronger PubMed: Al-Tassan 2003, DUPLICATE – to be removed - - Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
+?/., +/. 9 3 c.289C>T likely pathogenic, pathogenic r.(289c>u), - p.(Arg97X), p.Arg97* - g.45799144G>A - 247C>T (Arg83X), 20848659_ R69X - MUTYH_000029 MSH6: c.3324_3325insT;p.Ile1109TyrfsX3, 1 more item DUPLICATE – to be removed, PubMed: Filipe 2009, PubMed: Aretz 2006; PubMed: Vogt 2009, 5 more items - - Germline, In vitro (cloned), Unknown - 1/658, 1/152 UK patients with 3-100 polyps - - - InSiGHT - John-Paul Plazzer, Astrid Out, Stefan Aretz, Carli Tops, Elke Holinski-Feder
+/., ?/. 4 3 c.290G>A pathogenic, ACMG: 3, VUS r.(?), r.(290g>a) p.(Arg97Gln), p.Arg97Gln - g.45799143C>T g.45333471C>T 248G>A (Arg83Gln) - MUTYH_000266 1 more item Molecular Oncology, CRCM-UMR, Marseille, FR, DUPLICATE – to be removed - rs755653922 Germline, Unknown - - - - - Andreas Laner, Sylviane Olschwang, InSiGHT - John-Paul Plazzer
+?/. 4 3 c.294del likely pathogenic r.(294del) p.(Ser99AlafsX3) - g.45799139del - 252del (Ser85AlafsX3), 252delG (Ser85AlafsX3); G84fs - MUTYH_000030 - DUPLICATE – to be removed, PubMed: Lipton 2003, PubMed: Sieber 2003; PubMed: Russell 2006 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Carli Tops, Karl Heinimann
?/. 3 3 c.307T>C VUS r.(307u>c) p.(Trp103Arg) - g.45799126A>G - 265T>C; MUTYH(rs1140507)T-->C (Trp89Arg), 265T>C (Trp89Arg) - MUTYH_000181 4 were detected by the chip in the tissues of 10 hepato cellular carcinoma PubMed: Wang 2005, DUPLICATE – to be removed, MGZ, Munchen, DE - rs1140507 Unknown, Germline - 4/20 (20%) - - - Astrid Out, InSiGHT - John-Paul Plazzer, Elke Holinski-Feder
?/. 2 3 c.309G>A VUS r.(309g>a) p.(Trp103X) - g.45799124C>T - 267G>A; G267A (Trp89X); W98X - MUTYH_000060 - DUPLICATE – to be removed, PubMed: Kairupan 2005 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 3 c.311A>G VUS r.(311a>g) p.(Tyr104Cys) - g.45799122T>C - 269A>G (Tyr90Cys) - MUTYH_000025 new in this paper; Polyphen: possibly damaging; not in 500 control chromosomes PubMed: Gómez-Fernández 2009, DUPLICATE – to be removed - - Germline - - - - - Astrid Out, InSiGHT - John-Paul Plazzer
+/. 23 3 c.312C>A pathogenic r.(312c>a), -, r.(?), r.? p.(Tyr104X), p.Tyr104*, p.(Tyr104*) - g.45799121G>T - 270C>A (Tyr90X), Tyr90*; Y90*, MUTYH(NM_001128425.1):c.312C>A (p.(Tyr104*)), disruptive variant, 5 more items - MUTYH_000032 VKGL data sharing initiative Nederland, 5 more items PubMed: Cattaneo 2008, DUPLICATE – to be removed, PubMed: Di Gregorio 2006, PubMed: Ali 2008, 12 more items - - Germline, CLASSIFICATION record, In vitro (cloned), Unknown - 1 more item - - - Carli Tops, InSiGHT - John-Paul Plazzer, Astrid Out, VKGL-NL, Bruno Vankeirsbilck, Elke Holinski-Feder, Stephanie Baert-Desurmont
?/., -?/. 13 3 c.312C>T VUS, likely benign r.(312c>u), r.(?), r.(=) p.(Tyr104Tyr), p.(=), p.(Tyr104=) - g.45799121G>A - 270C>T, MUTYH(NM_001128425.1):c.312C>T (p.=), 270C>T (Tyr90Tyr), 270C>T (=); (Tyr90Tyr), 1 more item - MUTYH_000031 VKGL data sharing initiative Nederland DUPLICATE – to be removed, DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL, PubMed: Aretz 2006, 4 more items - - Germline, CLASSIFICATION record, Unknown - 1/658, 1/230, 1/24 individuals (22 families). FAP: 19, AFAP: 3 - - - InSiGHT - John-Paul Plazzer, VKGL-NL_Leiden, Astrid Out, VKGL-NL_Groningen, Stefan Aretz, Mette Gaustadnes, VKGL-NL_VUmc, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Angela Solano & F Cardoso
?/. 5 3 c.313G>A VUS r.(?), r.(313g>a) p.(Asp105Asn) - g.45799120C>T - MUTYH(NM_001128425.1):c.313G>A (p.Asp105Asn), 271G>A (Asp91Asn) - MUTYH_000007 VKGL data sharing initiative Nederland PubMed: Nielsen 2005, PubMed: Niessen et al. 2006, DUPLICATE – to be removed - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Carli Tops, VKGL-NL_AMC, InSiGHT - John-Paul Plazzer
+/., ?/., +?/. 7 3 c.325C>T pathogenic, VUS, likely pathogenic r.(?), r.(325c>u) p.(Arg109Trp) - g.45799108G>A - MUTYH(NM_001128425.1):c.325C>T (p.Arg109Trp), 283C>T (Arg95Trp) - MUTYH_000008 VKGL data sharing initiative Nederland Clinical Genetics, ErasmusMC, Rotterdam, NL, PubMed: Olschwang 2007, DUPLICATE – to be removed, 1 more item - - CLASSIFICATION record, Unknown, Germline - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, Ans M.W. van den Ouweland, Carli Tops, Astrid Out, VKGL-NL_Nijmegen, InSiGHT - John-Paul Plazzer
+/. 3 3i c.348+10C>T pathogenic r.348_349insGTAGGCAG p.Ala117ValfsX32 - g.45799075G>A - 306+10C>T Ala103ValfsX32 - MUTYH_000321 - DUPLICATE – to be removed, Institute of Human Genetics, Bonn, Germany - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Stefanie Vogt
?/., -/. 3 03i c.348+11G>A VUS, benign r.(=) p.(=) - g.45799074C>T - 306+11G>A, MUTYH(NM_001128425.1):c.348+11G>A - MUTYH_000108 VKGL data sharing initiative Nederland PubMed: Shinmura 2001, DUPLICATE – to be removed - - Unknown, Germline, CLASSIFICATION record - - - - - Carli Tops, InSiGHT - John-Paul Plazzer, VKGL-NL
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