Unique variants in the MUTYH gene


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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
-?/. 1 - c.-3396C>T r.(?) p.(=) - - likely benign g.45809322G>A g.45343650G>A TOE1(NM_025077.3):c.1481G>A (p.(Arg494His)) - TESK2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-3091C>T r.(?) p.(=) - - likely benign g.45809017G>A - TOE1(NM_025077.4):c.1176G>A (p.L392=) - TESK2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-2907G>A r.(?) p.(=) - - likely benign g.45808833C>T g.45343161C>T TOE1(NM_025077.4):c.992C>T (p.A331V) - TESK2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-2826_-2748del r.(?) p.(=) - - likely pathogenic g.45808676_45808754del g.45343004_45343082del TOE1(NM_025077.4):c.912_913-2del - TESK2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-2747G>A r.(?) p.(=) - - VUS g.45808673C>T g.45343001C>T - - TOE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.-2236T>A r.(?) p.(=) - - likely pathogenic g.45808162A>T g.45342490A>T - - TESK2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-1715A>G r.(?) p.(=) - - likely benign g.45807641T>C - TOE1(NM_025077.4):c.354T>C (p.A118=) - TESK2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-1692G>T r.(?) p.(=) - - VUS g.45807618C>A g.45341946C>A TOE1(NM_025077.4):c.334-3C>A - TESK2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.-1266C>T r.(?) p.(=) - - VUS g.45807192G>A g.45341520G>A - - TOE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-1243G>A r.(?) p.(=) - - likely benign g.45807169C>T - TOE1(NM_025077.4):c.261C>T (p.A87=) - TESK2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.-1072C>G r.(?) p.(=) - - likely pathogenic g.45806998G>C g.45341326G>C - - TESK2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 13 _1 c.-216-3949T>C r.(=) p.(=) - - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 1 more item DUPLICATE – to be removed, PubMed: Agalliu 2009 - rs9429072 Germline, Unknown - 151/290=52.1%, 625/2520=24.8%, 637/2494=25.5%, 78/158=49.4% - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 7 _1 c.-216-2721C>T r.(=) p.(=) - - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A, NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 1 more item DUPLICATE – to be removed, PubMed: Schafmayer 2007 - rs9429157 Germline - 1 more item - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 _1 c.-216-290G>A r.(=), r.(?) p.(=) - - VUS g.45806432C>T g.45340760C>T - - MUTYH_000244 - DUPLICATE – to be removed - rs3219463 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 3 _1 c.-216-64G>A r.(=) p.(=) - - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. DUPLICATE – to be removed, PubMed: Tao 2008 - rs3219465 Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 _1 c.-177C>T r.(=) p.(=) - - VUS g.45806103G>A - - - MUTYH_000001 1 more item Clinical Genetics, LUMC, Leiden, NL, DUPLICATE – to be removed - rs3219466 Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
-?/. 1 - c.-177T>C r.(?) p.(=) - - likely benign g.45806103A>G g.45340431A>G - - MUTYH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 _1 c.-165C>T r.(=) p.(=) - - VUS g.45806091G>A g.45340419G>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 r.(=), r.(?) p.(=) - - benign, VUS g.45806053G>A g.45340381G>A 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, contributed by Dept. of Dr Vaccaro, DUPLICATE – to be removed, 5 more items - rs3219466 CLASSIFICATION record, Germline, Unknown - 0.02, 102/3186 (3.2%), 4/160 alleles, 6/230, 98/2522 (3.9%), 1 more item - - - Carli Tops, InSiGHT - John-Paul Plazzer, Mette Gaustadnes, Angela Solano & F Cardoso, VKGL-NL_Nijmegen, Astrid Out
?/. 2 _1 c.-83G>A r.(=), r.(?) p.(=) - - VUS g.45806009C>T g.45340337C>T - - MUTYH_000229 - DUPLICATE – to be removed - rs28372898 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 _1 c.-56G>C r.(=) p.(=) - - VUS g.45805982C>G g.45340310C>G - - MUTYH_000011 new in this paper; not in 500 control chromosomes DUPLICATE – to be removed, PubMed: Gómez-Fernández 2009 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 1 13 c.?C>A r.? p.? - - VUS g.? - 1249C>A (Leu406Met) - MUTYH_000000 - - - - Unknown - - - - - Elke Holinski-Feder
?/. 2 12 c.?G>A r.(?) p.(?) - - VUS g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - - - Elke Holinski-Feder
+?/. 1 - c.2T>C r.(?) p.Met1? - ACMG likely pathogenic g.45805925A>G g.45340253A>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 r.(=) p.(Pro3Leu) - - VUS g.45805919G>A g.45340247G>A - - MUTYH_000178 - DUPLICATE – to be removed, MGZ, Munchen, DE - - Germline, Unknown - - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer
?/. 2 1 c.20G>A r.(20g>a) p.(Arg7His) - - VUS g.45805907C>T g.45340235C>T 20G>A (Arg7His) - MUTYH_000256 - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK, DUPLICATE – to be removed - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Rikke Veggerby Groenlund
+/., ?/. 3 1i c.36+1G>A r.spl p.0? - - pathogenic, VUS g.45805890C>T g.45340218C>T - - MUTYH_000224 MSH2: c.1729T>C, 1 more item DUPLICATE – to be removed, Redeker (unpublished); AMC, Amsterdam, NL, PubMed: Niessen et al. 2006 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Bert Redeker, Astrid Out
-/., ?/. 9 1i c.36+11C>T r.(=) p.(=) - - benign, VUS g.45805880G>A g.45340208G>A IVS1+11C>T, MUTYH(NM_001128425.1):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland, www.fruitfly.org: no splicing effect Clinical Genetics, LUMC, Leiden, NL, DUPLICATE – to be removed, PubMed: Tao 2008, PubMed: Zhou 2005 - rs2275602 CLASSIFICATION record, Germline, Unknown - 2,1% of n=84 - - - Carli Tops, InSiGHT - John-Paul Plazzer, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, Astrid Out
?/. 2 1i c.36+54G>A r.(=), r.(?) p.(=) - - VUS g.45805837C>T g.45340165C>T - - MUTYH_000230 - DUPLICATE – to be removed - rs17838009 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+75C>G r.(=) p.(=) - - VUS g.45805816G>C g.45340144G>C - - MUTYH_000020 - Clinical Genetics, LUMC, Leiden, NL, DUPLICATE – to be removed - rs3219467 Germline, Unknown - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 2 1i c.36+267C>T r.(=) p.(=) - - VUS g.45805624G>A g.45339952G>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 r.(=) p.(=) - - benign g.45805566G>C g.45339894G>C MUTYH(NM_001128425.1):c.36+325C>G, TOE1(NM_025077.4):c.-359G>C - MUTYH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 14 1i c.36+325G>C r.?, r.spl p.? - - VUS g.45805566C>G - 35+325G>C, IVS1+5G>C; 156+5G>C, 1 more item - MUTYH_000004 3 more items DUPLICATE – to be removed, MGZ, Munchen, DE, NCBI reference sequence NC_000001.10, 5 more items - rs3219468 Germline, Unknown - 0.01 (?); n=225, 1/54 controls - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Guido Plotz, Astrid Out
?/. 2 1i c.36+478C>G r.(=), r.(?) p.(=) - - VUS g.45805413G>C g.45339741G>C - - MUTYH_000231 - DUPLICATE – to be removed - rs3219469 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+721C>T r.(=), r.(?) p.(=) - - VUS g.45805170G>A g.45339498G>A - - MUTYH_000232 - DUPLICATE – to be removed - rs3219470 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+830G>A r.(=), r.(?) p.(=) - - VUS g.45805061C>T g.45339389C>T - - MUTYH_000233 - DUPLICATE – to be removed - rs1140199 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+845G>C r.(=), r.(?) p.(=) - - VUS g.45805046C>G g.45339374C>G - - MUTYH_000234 - DUPLICATE – to be removed - rs6696152 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+847T>C r.(=), r.(?) p.(=) - - VUS g.45805044A>G g.45339372A>G - - MUTYH_000235 - DUPLICATE – to be removed - rs1140200 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+852A>G r.(=), r.(?) p.(=) - - VUS g.45805039T>C g.45339367T>C - - MUTYH_000236 - DUPLICATE – to be removed - rs1140201 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1013dup r.(=) p.(=) - - VUS g.45804899dup g.45339227dup - - MUTYH_000237 - DUPLICATE – to be removed - rs60609540 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1464_36+1465del r.(=), r.(?) p.(=) - - VUS g.45804427_45804428del g.45338755_45338756del - - MUTYH_000291 - DUPLICATE – to be removed - rs71667141 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1467_36+1468insCA r.(=) p.(=) - - VUS g.45804424_45804425insGT g.45338752_45338753insGT - - MUTYH_000292 - DUPLICATE – to be removed - rs35518179 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1468_36+1469insCA r.(=) p.(=) - - VUS g.45804423_45804424insGT g.45338751_45338752insGT - - MUTYH_000293 - DUPLICATE – to be removed - rs10638672 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 3 1i c.36+1474dup r.(=), r.(?) p.(=) - - VUS g.45804426dup g.45338754dup - - MUTYH_000290 - DUPLICATE – to be removed - rs11403361, rs63261960 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1563dup r.(=), r.(?) p.(=) - - VUS g.45804329dup g.45338657dup - - MUTYH_000294 - DUPLICATE – to be removed - rs34686049 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1802G>A r.(=), r.(?) p.(=) - - VUS g.45804089C>T g.45338417C>T - - MUTYH_000295 - DUPLICATE – to be removed - rs3219471 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1841G>A r.(=) p.(=) - - VUS g.45804050C>T g.45338378C>T IVS1+1520 A/G (beta transcript); NM_001048174.1: -7+1521G>A (beta transcript) - MUTYH_000164 - DUPLICATE – to be removed, PubMed: Yamaguchi 2002 - rs3219472 Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1945C>T r.(=), r.(?) p.(=) - - VUS g.45803946G>A g.45338274G>A - - MUTYH_000297 - DUPLICATE – to be removed - rs3219473 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+1946dup r.(=), r.(?) p.(=) - - VUS g.45803947dup g.45338275dup - - MUTYH_000296 - DUPLICATE – to be removed - rs35804643 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+2351C>T r.(=), r.(?) p.(=) - - VUS g.45803540G>A g.45337868G>A - - MUTYH_000298 - DUPLICATE – to be removed - rs7522089 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+2478T>C r.(=), r.(?) p.(=) - - VUS g.45803413A>G g.45337741A>G - - MUTYH_000299 - DUPLICATE – to be removed - rs3219474 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.36+2774G>A r.(=), r.(?) p.(=) - - VUS g.45803117C>T g.45337445C>T - - MUTYH_000300 - DUPLICATE – to be removed - rs3219475 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2653C>A r.(=), r.(?) p.(=) - - VUS g.45802836G>T g.45337164G>T - - MUTYH_000301 - DUPLICATE – to be removed - rs61789858 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2487T>G r.(=), r.(?) p.(=) - - VUS g.45802670A>C g.45336998A>C - - MUTYH_000245 - DUPLICATE – to be removed - rs3219476 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2139T>C r.(=), r.(?) p.(=) - - VUS g.45802322A>G g.45336650A>G - - MUTYH_000302 - DUPLICATE – to be removed - rs3219477 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-2002T>C r.(=), r.(?) p.(=) - - VUS g.45802185A>G g.45336513A>G - - MUTYH_000303 - DUPLICATE – to be removed - rs3219478 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1960G>C r.(=) p.(=) - - VUS g.45802143C>G g.45336471C>G IVS1+3427 C/G (beta transcript); NM_001048174.1: -6-1960G>C (beta transcript) - MUTYH_000165 - DUPLICATE – to be removed, PubMed: Yamaguchi 2002 - rs3219479 Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1798G>A r.(=), r.(?) p.(=) - - VUS g.45801981C>T g.45336309C>T - - MUTYH_000304 - DUPLICATE – to be removed - rs3219480 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1747T>C r.(=), r.(?) p.(=) - - VUS g.45801930A>G g.45336258A>G - - MUTYH_000305 - DUPLICATE – to be removed - rs28871870 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1192T>G r.(=), r.(?) p.(=) - - VUS g.45801375A>C g.45335703A>C - - MUTYH_000306 - DUPLICATE – to be removed - rs7550250 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1074C>T r.(=), r.(?) p.(=) - - VUS g.45801257G>A g.45335585G>A - - MUTYH_000307 - DUPLICATE – to be removed - rs3219481 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1040A>G r.(=), r.(?) p.(=) - - VUS g.45801223T>C g.45335551T>C - - MUTYH_000308 - DUPLICATE – to be removed - rs3219482 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-1015A>G r.(=), r.(?) p.(=) - - VUS g.45801198T>C g.45335526T>C - - MUTYH_000309 - DUPLICATE – to be removed - rs3219483 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-89dup r.(=), r.(?) p.(=) - - VUS g.45800273dup g.45334601dup - - MUTYH_000310 - DUPLICATE – to be removed - rs35203418 Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 1i c.37-19C>G r.(=) p.(=) - - VUS g.45800202G>C g.45334530G>C - - MUTYH_000087 - DUPLICATE – to be removed, PubMed: Olschwang 2007 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 1 1i c.37+75C>G r.(?) p.(=) - - VUS g.45800108G>C - - - MUTYH_000358 1 more item contributed by Dept. of Dr Vaccaro - - Germline - - - - - Angela Solano & F Cardoso
?/. 2 2 c.39C>T r.(39c>u) p.(Ala13Ala) - - VUS g.45800181G>A g.45334509G>A - - MUTYH_000023 new in this paper; not in 500 control chromosomes DUPLICATE – to be removed, PubMed: Gómez-Fernández 2009 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
?/. 3 2 c.42C>T r.(42c>u) p.(Ile14Ile) - - VUS g.45800178G>A g.45334506G>A - - MUTYH_000262 - DUPLICATE – to be removed, Molecular Oncology, CRCM-UMR, Marseille, FR, PubMed: Aretz 2006 - - Germline, Unknown - 1/658 - - - Stefan Aretz, InSiGHT - John-Paul Plazzer, Sylviane Olschwang
+/. 2 2 c.49A>T r.(49a>u) p.(Lys17X) - - pathogenic g.45800171T>A g.45334499T>A - - MUTYH_000179 - DUPLICATE – to be removed, MGZ, Munchen, DE - - Germline, Unknown - - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer
-?/., ?/. 16 2 c.53C>T r.(53c>u), r.(?) p.(Pro18Leu), p.Pro18Leu MTS - likely benign, NA, VUS g.45800167G>A g.45334495G>A 18811933_test_53, 18811933_test_53_74, MUTYH(NM_001128425.1):c.53C>T (p.P18L), P18L - MUTYH_000024 In N-terminal mitochondrial targeting signal (Shinmura 2001), variants in cis, 5 more items DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL, DUPLICATE – to be removed, PubMed: Chen 2008, 5 more items - - CLASSIFICATION record, Germline, In vitro (cloned), Unknown - 1/124, 1/132, 10/202, 3/192, 3/258, 3/686 alleles, 6/276 alleles - - - Carli Tops, InSiGHT - John-Paul Plazzer, VKGL-NL_AMC, Astrid Out
+/. 2 2 c.55C>T r.(55c>u) p.(Arg19X) - - pathogenic g.45800165G>A g.45334493G>A - - MUTYH_000205 - DUPLICATE – to be removed, PubMed: Vogt 2009 - - Germline - - - - - Stefan Aretz, InSiGHT - John-Paul Plazzer
?/. 2 2 c.56G>A r.(56g>a) p.(Arg19Gln) - - VUS g.45800164C>T g.45334492C>T - - MUTYH_000153 - Clinical Genetics, LUMC, Leiden, NL, DUPLICATE – to be removed - - Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 2 2 c.62C>T r.(62c>u) p.(Ala21Val) - - VUS g.45800158G>A g.45334486G>A - - MUTYH_000146 - DUPLICATE – to be removed, PubMed: Olschwang 2007 - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
-/., -?/., ?/. 79 2 c.64G>A r.(64g>a), r.(?) p.(Val22Met), p.Val22Met - - benign, likely benign, NA, VUS g.45800156C>T g.45334484C>T (Val22Met), 18534194_glycosylase_V22M, 18534194_protein_V22M, M22V, V22M, 1 more item - MUTYH_000005 149 heterozygous, no homozygous; Clinindb (India), 2% of alleles, 6% of alleles, 8 more items Clinical Genetics, Karolinska University Hospital, Stockholm, SE, Clinical Genetics, LUMC, Leiden, NL, 31 more items - rs3219484 CLASSIFICATION record, Germline, In vitro (cloned), Unknown - 1/24 individuals (22 families). FAP: 19, AFAP: 3, 1/250 (0.4%) patients, 12 Sporadic CRC patients, 22 more items - - - Kristina Lagerstedt Robinson, Carli Tops, Elke Holinski-Feder, Florentia Fostira, InSiGHT - John-Paul Plazzer, Rodney Scott, Mette Gaustadnes, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC, Maximiliano Zeballos, Astrid Out, Carlos Vaccaro, Mohammed Faruq
?/. 1 - c.64G>T r.(?) p.(Val22Leu) - - VUS g.45800156C>A g.45334484C>A MUTYH(NM_001128425.1):c.64G>T (p.V22L) - MUTYH_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 16 2 c.74G>A r.(74g>a), r.(?) p.(Gly25Asp), p.Gly25Asp MTS - likely benign, NA, VUS g.45800146C>T g.45334474C>T 18811933_test_53_74, 18811933_test_74, 73G>A (?) G25D, G25D, 1 more item - MUTYH_000026 In N-terminal mitochondrial targeting signal (Shinmura 2001), VKGL data sharing initiative Nederland, 4 more items DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL, DUPLICATE – to be removed, PubMed: Chen 2008, 5 more items - - CLASSIFICATION record, Germline, In vitro (cloned), Unknown - 1/124, 1/132, 10/202, 3/192, 3/258, 3/686 alleles, 6/276 alleles - - - Carli Tops, InSiGHT - John-Paul Plazzer, VKGL-NL_AMC, Astrid Out
+/., +?/. 4 2 c.91del r.(91del), r.(?) p.(Ala31ProfsTer27), p.(Ala31ProfsX27) - - likely pathogenic, pathogenic g.45800129del g.45334457del (Ala31ProfsX46), MUTYH(NM_001128425.1):c.91delG (p.A31Pfs*27) - MUTYH_000116 VKGL data sharing initiative Nederland Clinical Genetics, LUMC, Leiden, NL, DUPLICATE – to be removed - - CLASSIFICATION record, Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer, VKGL-NL_Rotterdam
?/. 2 2 c.98A>C r.(98a>c) p.(Gln33Pro) - - VUS g.45800122T>G g.45334450T>G - - MUTYH_000264 - DUPLICATE – to be removed, Molecular Oncology, CRCM-UMR, Marseille, FR - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Sylviane Olschwang
-/. 1 - c.141G>A r.(?) p.(Lys47=) - - benign g.45800079C>T g.45334407C>T MUTYH(NM_001128425.1):c.141G>A (p.K47=) - TOE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 2i c.156+5G>C r.spl p.? - - pathogenic g.45800059C>G - 156+5G>C ? - MUTYH_000318 1 more item DUPLICATE – to be removed - - Germline, Unknown - - - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer
+?/. 1 - c.157+1G>A r.spl? p.? - ACMG pathogenic g.45800062C>T - - - MUTYH_000367 - - - - Somatic - 0.038 - - - Vanessa Mendonça
-/., ?/. 18 2i c.157+30A>G r.(=), r.(?) p.(=) - - benign, VUS g.45800033T>C g.45334361T>C 156+30A>G, IVS2+30A>G, MUTYH(NM_001128425.1):c.157+30A>G - MUTYH_000006 56 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland, 2 more items Clinical Genetics, LUMC, Leiden, NL, contributed by Dept. of Dr Vaccaro, DUPLICATE – to be removed, 8 more items - rs3219485 CLASSIFICATION record, Germline, Unknown - 1/58 (1.7%), 10/206 (4.9%), 23/540 (4.3%), 3/160 alleles, 3/60 (5.0%), 56/2794 individuals, >0.01, 1 more item - - - Carli Tops, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Angela Solano & F Cardoso, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Astrid Out, Mohammed Faruq
?/. 5 2i c.157+75G>A r.(=) p.(=) - - VUS g.45799988C>T g.45334316C>T IVS2+75G>A - MUTYH_000154 www.fruitfly.org: no splicing effect DUPLICATE – to be removed, PubMed: Al-Tassan 2003, PubMed: Out 2009, PubMed: Zhou 2005 - - Germline, Unknown - 1.1% of n=84 - - - Carli Tops, InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 2i c.157+136G>A r.(=) p.(=) - - VUS g.45799927C>T g.45334255C>T - - MUTYH_000156 - DUPLICATE – to be removed, PubMed: Out 2009 - - Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 3 2i c.157+151G>A r.(=) p.(=) - - VUS g.45799912C>T g.45334240C>T - - MUTYH_000155 - DUPLICATE – to be removed, PubMed: Out 2009 - rs3219486 Germline - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 2 3 c.158C>G r.(158c>g) p.(Ala53Gly) - - VUS g.45799275G>C g.45333603G>C 158-42C>G (?) - MUTYH_000265 1 more item DUPLICATE – to be removed, Molecular Oncology, CRCM-UMR, Marseille, FR - - Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Sylviane Olschwang
-?/., ?/. 3 - c.167G>T r.(?) p.(Gly56Val), p.Gly56Val - ACMG likely benign, VUS g.45799266C>A g.45333594C>A MUTYH(NM_001128425.1):c.167G>T (p.G56V) - MUTYH_000357 pateint unaffected, mother CRC at age 64y, uncle ms CRC at age 48y., his son CUP at age 30y, 1 more item - - rs587781374 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.222G>A r.(?) p.(Glu74=) - - likely benign g.45799211C>T g.45333539C>T MUTYH(NM_001128425.1):c.222G>A (p.E74=) - HPDL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 3 3 c.224T>A r.(224u>a), r.(?) p.(Val75Glu), p.Val75Glu - - NA, VUS g.45799209A>T g.45333537A>T 182T>A (Val61Glu), 20848659_V47E - MUTYH_000028 1 more item DUPLICATE – to be removed, PubMed: Goto 2010, PubMed: Halford 2003 - - Germline, In vitro (cloned), Unknown - - - - - Carli Tops, InSiGHT - John-Paul Plazzer
?/. 1 - c.236C>A r.(?) p.(Ala79Asp) - - VUS g.45799197G>T g.45333525G>T - - HPDL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 3 c.241_242del r.(241_242del) p.(Val81LeufsX11) - - likely pathogenic, pathogenic g.45799192_45799193del g.45333520_45333521del 199_200del (Val67LeufsX11), 199_200del; 199GT (Val67LeufsX11) - MUTYH_000027 1 more item DUPLICATE – to be removed, PubMed: Di Gregorio 2006, PubMed: Venesio 2004 - - Germline, Unknown - - - - - Carli Tops, InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 3 c.252C>T r.(252c>u) p.(Tyr84Tyr) - - VUS g.45799181G>A g.45333509G>A 210C>T (Tyr70Tyr) - MUTYH_000282 Alamut: putative strong splice acceptor site after c.263 slightly stronger DUPLICATE – to be removed, PubMed: Al-Tassan 2003 - - Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
+/., +?/. 9 3 c.289C>T r.(289c>u), r.(?) p.(Arg97X), p.Arg97* - - likely pathogenic, NA, pathogenic g.45799144G>A g.45333472G>A 20848659_ R69X, 247C>T (Arg83X) - MUTYH_000029 MSH6: c.3324_3325insT;p.Ile1109TyrfsX3, 1 more item DUPLICATE – to be removed, MGZ, Munchen, DE, PubMed: Aretz 2006; PubMed: Vogt 2009, 5 more items - - Germline, In vitro (cloned), Unknown - 1/152 UK patients with 3-100 polyps, 1/658 - - - Stefan Aretz, Carli Tops, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Astrid Out
+/., ?/. 4 3 c.290G>A r.(290g>a), r.(?) p.(Arg97Gln), p.Arg97Gln - ACMG pathogenic, VUS g.45799143C>T g.45333471C>T 248G>A (Arg83Gln) - MUTYH_000266 1 more item DUPLICATE – to be removed, Molecular Oncology, CRCM-UMR, Marseille, FR - rs755653922 Germline, Unknown - - - - - InSiGHT - John-Paul Plazzer, Sylviane Olschwang, Andreas Laner
+?/. 4 3 c.294del r.(294del) p.(Ser99AlafsX3) - - likely pathogenic g.45799141del g.45333469del 252del (Ser85AlafsX3), 252delG (Ser85AlafsX3); G84fs - MUTYH_000030 - DUPLICATE – to be removed, PubMed: Lipton 2003, PubMed: Sieber 2003; PubMed: Russell 2006 - - Germline, Unknown - - - - - Carli Tops, Karl Heinimann, InSiGHT - John-Paul Plazzer
?/. 3 3 c.307T>C r.(307u>c) p.(Trp103Arg) - - VUS g.45799126A>G g.45333454A>G 265T>C (Trp89Arg), 265T>C; MUTYH(rs1140507)T-->C (Trp89Arg) - MUTYH_000181 4 were detected by the chip in the tissues of 10 hepato cellular carcinoma DUPLICATE – to be removed, MGZ, Munchen, DE, PubMed: Wang 2005 - rs1140507 Germline, Unknown - 4/20 (20%) - - - Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Astrid Out
?/. 2 3 c.309G>A r.(309g>a) p.(Trp103X) - - VUS g.45799124C>T g.45333452C>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 r.(311a>g) p.(Tyr104Cys) - - VUS g.45799122T>C g.45333450T>C 269A>G (Tyr90Cys) - MUTYH_000025 new in this paper; Polyphen: possibly damaging; not in 500 control chromosomes DUPLICATE – to be removed, PubMed: Gómez-Fernández 2009 - - Germline - - - - - InSiGHT - John-Paul Plazzer, Astrid Out
+/. 25 3 c.312C>A r.(312c>a), r.(?) p.(Tyr104*), p.(Tyr104Ter), p.(Tyr104X), p.Tyr104* - - NA, pathogenic g.45799121G>T g.45333449G>T 18534194_binding_Y90X, 18534194_glycosylase_Y90X, 18534194_protein_Y90X, 270C>A (Tyr90X), 5 more items - MUTYH_000032 5 heterozygous, no homozygous; Clinindb (India), Review, VKGL data sharing initiative Nederland, 5 more items DUPLICATE – to be removed, Human Genetics, UH Gasthuisberg, Leuven, BE, MGZ, Munchen, DE, 15 more items - rs121908380 CLASSIFICATION record, Germline, In vitro (cloned), Unknown - 5/2793 individuals, 1 more item - - - Carli Tops, Elke Holinski-Feder, InSiGHT - John-Paul Plazzer, Bruno Vankeirsbilck, VKGL-NL_Nijmegen, Astrid Out, Stephanie Baert-Desurmont, Mohammed Faruq
-?/., ?/. 12 3 c.312C>T r.(312c>u), r.(=), r.(?) p.(Tyr104=), p.(Tyr104Tyr) - - likely benign, VUS g.45799121G>A g.45333449G>A 270C>T, 270C>T (=); (Tyr90Tyr), 270C>T (Tyr104=), 270C>T (Tyr90Tyr), 1 more item - MUTYH_000031 VKGL data sharing initiative Nederland contributed by Dept. of Dr Vaccaro, DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL, 5 more items - - CLASSIFICATION record, Germline, Unknown - 1/230, 1/24 individuals (22 families). FAP: 19, AFAP: 3, 1/658 - - - Stefan Aretz, InSiGHT - John-Paul Plazzer, Mette Gaustadnes, Angela Solano & F Cardoso, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, Astrid Out
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