MUTYH[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 304411.	NM_001128425.1(MUTYH):c.348+33_*210delinsTA GRCh37: Chr1:45794768-45799052 GRCh38: Chr1:45329096-45333380	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Sep 1, 2011)	no assertion criteria provided
Select item 6393762.	NC_000001.11:g.(?_45329296)_(45333334_?)del GRCh37: Chr1:45794968-45799006 GRCh38: Chr1:45329296-45333334	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Aug 1, 2019)	criteria provided, single submitter
Select item 5333333.	NC_000001.11:g.(?_45329300)_(45333609_?)del GRCh37: Chr1:45794972-45799281 GRCh38: Chr1:45329300-45333609	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Nov 22, 2017)	criteria provided, single submitter
Select item 4646724.	NC_000001.11:g.(?_45329300)_(45330563_?)del GRCh37: Chr1:45794972-45796235 GRCh38: Chr1:45329300-45330563	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 10505365.	NM_001048174.2(MUTYH):c.1393-51_*2del GRCh37: Chr1:45794976-45796280 GRCh38: Chr1:45329304-45330608	MUTYH		Familial adenomatous polyposis 2	Pathogenic	no assertion criteria provided
Select item 4378426.	NC_000001.11:g.(?_45329306)_(45333324_?)del GRCh37: Chr1:45794978-45798996 GRCh38: Chr1:45329306-45333324	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Nov 22, 2016)	criteria provided, single submitter
Select item 9981477.	NM_001048174.2(MUTYH):c.1562del (p.Gln521fs) GRCh37: Chr1:45794982 GRCh38: Chr1:45329310	MUTYH	Q406fs, Q429fs, Q521fs, Q522fs, Q532fs, Q536fs, Q546fs, Q549fs	Colorectal cancer	Pathogenic	no assertion criteria provided
Select item 17771408.	NM_001048174.2(MUTYH):c.1561del (p.Gln521fs) GRCh37: Chr1:45794983 GRCh38: Chr1:45329311	MUTYH	Q522fs, Q549fs, Q546fs, Q406fs, Q429fs, Q521fs, Q536fs, Q532fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Nov 19, 2020)	criteria provided, single submitter
Select item 10671149.	NM_001048174.2(MUTYH):c.1457_1487del (p.Ser486fs) GRCh37: Chr1:45795057-45795087 GRCh38: Chr1:45329385-45329415	MUTYH	S371fs, S394fs, S486fs, S487fs, S497fs, S501fs, S511fs, S514fs	Familial adenomatous polyposis 2	Likely pathogenic (Aug 9, 2021)	criteria provided, single submitter
Select item 23834110.	NM_001048174.2(MUTYH):c.1468del (p.Ser490fs) GRCh37: Chr1:45795076 GRCh38: Chr1:45329404	MUTYH	S398fs, S490fs, S515fs, S375fs, S505fs, S491fs, S501fs, S518fs	Familial adenomatous polyposis 2	Likely pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 40682611.	NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs) GRCh37: Chr1:45795077-45795078 GRCh38: Chr1:45329405-45329406	MUTYH	S398fs, S505fs, S518fs, S375fs, S490fs, S501fs, S491fs, S515fs	Familial adenomatous polyposis 2	Likely pathogenic (Aug 9, 2021)	criteria provided, single submitter
Select item 106718912.	NM_001048174.2(MUTYH):c.1446del (p.Arg482fs) GRCh37: Chr1:45795098 GRCh38: Chr1:45329426	MUTYH	R367fs, R390fs, R482fs, R483fs, R493fs, R497fs, R507fs, R510fs	Familial adenomatous polyposis 2	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 149926713.	NM_001048174.2(MUTYH):c.1434+2T>C GRCh37: Chr1:45796186 GRCh38: Chr1:45330514	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 148365014.	NM_001048174.2(MUTYH):c.1434+2del GRCh37: Chr1:45796186 GRCh38: Chr1:45330514	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 132475215.	NM_001048174.2(MUTYH):c.1434+1G>C GRCh37: Chr1:45796187 GRCh38: Chr1:45330515	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (May 7, 2019)	criteria provided, single submitter
Select item 23187716.	NM_001048174.2(MUTYH):c.1434+1G>T GRCh37: Chr1:45796187 GRCh38: Chr1:45330515	MUTYH		Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Likely pathogenic (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58735617.	NM_001048174.2(MUTYH):c.1426_1433delinsCCAACAGCCCA (p.Thr476_Met478delinsProThrAlaGln) GRCh37: Chr1:45796189-45796196 GRCh38: Chr1:45330517-45330524	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Jun 1, 2018)	no assertion criteria provided
Select item 177428018.	NM_001048174.2(MUTYH):c.1430del (p.Cys477fs) GRCh37: Chr1:45796192 GRCh38: Chr1:45330520	MUTYH	C477fs, C478fs, C488fs, C502fs, C492fs, C362fs, C385fs, C505fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Apr 28, 2021)	criteria provided, single submitter
Select item 107212819.	NM_001048174.2(MUTYH):c.1425del (p.Thr476fs) GRCh37: Chr1:45796197 GRCh38: Chr1:45330525	MUTYH	T361fs, T384fs, T476fs, T477fs, T487fs, T491fs, T501fs, T504fs	Familial adenomatous polyposis 2	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 194926220.	NM_001048174.2(MUTYH):c.1418del (p.Gln473fs) GRCh37: Chr1:45796204 GRCh38: Chr1:45330532	MUTYH	Q473fs, Q498fs, Q484fs, Q474fs, Q358fs, Q381fs, Q488fs, Q501fs	Familial adenomatous polyposis 2	Likely pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 93457821.	NM_001048174.2(MUTYH):c.1414C>T (p.Gln472Ter) GRCh37: Chr1:45796208 GRCh38: Chr1:45330536	MUTYH	Q380, Q357, Q487, Q473, Q500, Q472, Q483, Q497	Familial adenomatous polyposis 2	Likely pathogenic (Aug 9, 2021)	criteria provided, single submitter
Select item 41834322.	NM_001048174.2(MUTYH):c.1407T>G (p.Tyr469Ter) GRCh37: Chr1:45796215 GRCh38: Chr1:45330543	MUTYH	Y497, Y470, Y354, Y377, Y469, Y494, Y480, Y484	not provided	Likely pathogenic (Dec 22, 2014)	criteria provided, single submitter
Select item 195867523.	NM_001048174.2(MUTYH):c.1405dup (p.Tyr469fs) GRCh37: Chr1:45796216-45796217 GRCh38: Chr1:45330544-45330545	MUTYH	Y470fs, Y354fs, Y377fs, Y469fs, Y497fs, Y484fs, Y480fs, Y494fs	Familial adenomatous polyposis 2	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 21995324.	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) GRCh37: Chr1:45796229 GRCh38: Chr1:45330557	MUTYH	V493F, V479F, V373F, V465F, V466F, V350F, V480F, V476F, V490F	Familial adenomatous polyposis 2, Gastric cancer, Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66058525.	NM_001048174.2(MUTYH):c.1393-2_1393-1del GRCh37: Chr1:45796230-45796231 GRCh38: Chr1:45330558-45330559	MUTYH		Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Likely pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37168126.	NM_001048174.2(MUTYH):c.1393-1G>A GRCh37: Chr1:45796230 GRCh38: Chr1:45330558	MUTYH		Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 18268427.	NM_001048174.2(MUTYH):c.1392_1392+6del GRCh37: Chr1:45796848-45796854 GRCh38: Chr1:45331176-45331182	MUTYH		Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21608128.	NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter) GRCh37: Chr1:45796856 GRCh38: Chr1:45331184	MUTYH	K492, K464, K489, K349, K479, K372, K465, K475	Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23398229.	NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) GRCh37: Chr1:45796859 GRCh38: Chr1:45331187	MUTYH	K491, K464, K474, K478, K488, K463, K348, K371	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 529530.	NM_001048174.2(MUTYH):c.1377del (p.Thr460fs) GRCh37: Chr1:45796869 GRCh38: Chr1:45331197	MUTYH	T368fs, T460fs, T461fs, T475fs, T485fs, T345fs, T471fs, T488fs	Familial adenomatous polyposis 2	Pathogenic (Feb 27, 2003)	no assertion criteria provided
Select item 41834531.	NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs) GRCh37: Chr1:45796882-45796883 GRCh38: Chr1:45331210-45331211	MUTYH	T340fs, T456fs, T483fs, T363fs, T455fs, T466fs, T470fs, T480fs	not provided, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Jun 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12783832.	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) GRCh37: Chr1:45796891-45796893 GRCh38: Chr1:45331219-45331221	MUTYH	E480del, E453del, E360del, E467del, E337del, E452del, E463del, E477del	Gastric cancer, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 529733.	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) GRCh37: Chr1:45796892 GRCh38: Chr1:45331220	MUTYH	E466, E480, E360, E467, E452, E463, E477, E337, E453*	Gastric cancer, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23833734.	NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) GRCh37: Chr1:45796895 GRCh38: Chr1:45331223	MUTYH	E479, E359, E452, E451, E462, E466, E476, E336	Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169257135.	NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter) GRCh37: Chr1:45796905 GRCh38: Chr1:45331233	MUTYH	W332, W355, W447, W448, W458, W462, W472, W475	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152357036.	NM_001048174.2(MUTYH):c.1323_1332dup (p.Ala445fs) GRCh37: Chr1:45796913-45796914 GRCh38: Chr1:45331241-45331242	MUTYH	A456fs, A470fs, A353fs, A445fs, A446fs, A460fs, A330fs, A473fs	Familial adenomatous polyposis 2	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 149485037.	NM_001048174.2(MUTYH):c.1322_1323del (p.Val441fs) GRCh37: Chr1:45796923-45796924 GRCh38: Chr1:45331251-45331252	MUTYH	V326fs, V349fs, V456fs, V469fs, V441fs, V452fs, V466fs, V442fs	Familial adenomatous polyposis 2	Likely pathogenic (Aug 9, 2021)	criteria provided, single submitter
Select item 48691738.	NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) GRCh37: Chr1:45796927-45796928 GRCh38: Chr1:45331255-45331256	MUTYH	T441fs, T451fs, T468fs, T325fs, T348fs, T465fs, T440fs, T455fs	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211748739.	NM_001048174.2(MUTYH):c.1305_1315dup (p.Thr439delinsArgProGlnTer) GRCh37: Chr1:45796930-45796931 GRCh38: Chr1:45331258-45331259	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 210491140.	NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer) GRCh37: Chr1:45796934 GRCh38: Chr1:45331262	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 55772041.	NM_001048174.2(MUTYH):c.1311dup (p.Val438fs) GRCh37: Chr1:45796934-45796935 GRCh38: Chr1:45331262-45331263	MUTYH	V346fs, V439fs, V438fs, V449fs, V323fs, V463fs, V453fs, V466fs	Familial adenomatous polyposis 2	Likely pathogenic (Apr 9, 2018)	criteria provided, single submitter
Select item 81903442.	NM_001048174.2(MUTYH):c.1287del (p.Leu430fs) GRCh37: Chr1:45796959 GRCh38: Chr1:45331287	MUTYH	L445fs, L338fs, L431fs, L430fs, L441fs, L315fs, L455fs, L458fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 2, 2019)	criteria provided, single submitter
Select item 177097943.	NM_001048174.2(MUTYH):c.1284T>G (p.Tyr428Ter) GRCh37: Chr1:45796962 GRCh38: Chr1:45331290	MUTYH	Y313, Y414, Y429, Y456, Y428, Y442, Y453, Y336, Y439, Y400, Y415, Y435, Y443*	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 8, 2020)	criteria provided, single submitter
Select item 140823844.	NM_001048174.2(MUTYH):c.1276C>T (p.Gln426Ter) GRCh37: Chr1:45796970 GRCh38: Chr1:45331298	MUTYH	Q427, Q426, Q454, Q311, Q334, Q437, Q441, Q451	Familial adenomatous polyposis 2	Pathogenic (May 11, 2021)	criteria provided, single submitter
Select item 94774345.	NM_001048174.2(MUTYH):c.1275T>G (p.Tyr425Ter) GRCh37: Chr1:45796971 GRCh38: Chr1:45331299	MUTYH	Y310, Y426, Y440, Y453, Y450, Y333, Y425, Y436	Familial adenomatous polyposis 2	Pathogenic (Aug 19, 2019)	criteria provided, single submitter
Select item 46469046.	NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs) GRCh37: Chr1:45796974 GRCh38: Chr1:45331302	MUTYH	Y436fs, Y310fs, Y425fs, Y440fs, Y333fs, Y426fs, Y450fs	not provided, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23186747.	NM_001048174.2(MUTYH):c.1257_1258del (p.Ile421fs) GRCh37: Chr1:45796988-45796989 GRCh38: Chr1:45331316-45331317	MUTYH	I421fs, I432fs, I422fs, I449fs, I306fs, I329fs, I436fs, I446fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (May 20, 2015)	criteria provided, single submitter
Select item 106794848.	NM_001048174.2(MUTYH):c.1240-1G>A GRCh37: Chr1:45797007 GRCh38: Chr1:45331335	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Jun 28, 2020)	criteria provided, single submitter
Select item 23408049.	NM_001048174.2(MUTYH):c.1240-1G>T GRCh37: Chr1:45797007 GRCh38: Chr1:45331335	MUTYH		Hereditary cancer-predisposing syndrome	Likely pathogenic (Sep 24, 2015)	criteria provided, single submitter
Select item 91959450.	NM_001048174.2(MUTYH):c.1240-2A>C GRCh37: Chr1:45797008 GRCh38: Chr1:45331336	MUTYH		Hereditary cancer-predisposing syndrome	Likely pathogenic (May 10, 2019)	criteria provided, single submitter
Select item 176993951.	NM_001048174.2(MUTYH):c.1239+1G>A GRCh37: Chr1:45797091 GRCh38: Chr1:45331419	MUTYH		Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94084852.	NM_001048174.2(MUTYH):c.1239+1G>T GRCh37: Chr1:45797091 GRCh38: Chr1:45331419	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Sep 27, 2019)	criteria provided, single submitter
Select item 42197553.	NM_001048174.2(MUTYH):c.1237del (p.Glu413fs) GRCh37: Chr1:45797094 GRCh38: Chr1:45331422	MUTYH	E424fs, E438fs, E413fs, E298fs, E414fs, E441fs, E321fs, E428fs	not provided, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 48589654.	NM_001048174.2(MUTYH):c.1213del (p.Ala405fs) GRCh37: Chr1:45797118 GRCh38: Chr1:45331446	MUTYH	A405fs, A430fs, A416fs, A290fs, A313fs, A406fs, A420fs, A433fs	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 53330655.	NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs) GRCh37: Chr1:45797126-45797135 GRCh38: Chr1:45331454-45331463	MUTYH	W307fs, W284fs, W400fs, W410fs, W414fs, W424fs, W399fs, W427fs	Familial adenomatous polyposis 2	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 40683056.	NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter) GRCh37: Chr1:45797134 GRCh38: Chr1:45331462	MUTYH	W427, W307, W400, W414, W424, W284, W410, W399	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203162657.	NM_001048174.2(MUTYH):c.1182_1194del (p.Gln394fs) GRCh37: Chr1:45797137-45797149 GRCh38: Chr1:45331465-45331477	MUTYH	Q395fs, Q419fs, Q422fs, Q409fs, Q302fs, Q394fs, Q279fs, Q405fs	Familial adenomatous polyposis 2	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 145460458.	NM_001048174.2(MUTYH):c.1185del (p.Glu395fs) GRCh37: Chr1:45797146 GRCh38: Chr1:45331474	MUTYH	E303fs, E396fs, E280fs, E423fs, E406fs, E410fs, E395fs, E420fs	Familial adenomatous polyposis 2	Pathogenic (Jun 1, 2021)	criteria provided, single submitter
Select item 55226559.	NM_001048174.2(MUTYH):c.1183_1185delinsC (p.Glu395fs) GRCh37: Chr1:45797146-45797148 GRCh38: Chr1:45331474-45331476	MUTYH	E280fs, E303fs, E395fs, E410fs, E420fs, E396fs, E406fs, E423fs	Familial adenomatous polyposis 2	Likely pathogenic (Jun 21, 2017)	criteria provided, single submitter
Select item 81874060.	NM_001048174.2(MUTYH):c.1183del (p.Glu395fs) GRCh37: Chr1:45797148 GRCh38: Chr1:45331476	MUTYH	E420fs, E303fs, E396fs, E423fs, E280fs, E406fs, E410fs, E395fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jan 31, 2018)	criteria provided, single submitter
Select item 40682361.	NM_001048174.2(MUTYH):c.1183G>T (p.Glu395Ter) GRCh37: Chr1:45797148 GRCh38: Chr1:45331476	MUTYH	E423, E396, E406, E280, E395, E410, E420, E303	Familial adenomatous polyposis 2	Pathogenic (Oct 16, 2019)	criteria provided, single submitter
Select item 65452962.	NM_001048174.2(MUTYH):c.1180C>T (p.Gln394Ter) GRCh37: Chr1:45797151 GRCh38: Chr1:45331479	MUTYH	Q419, Q409, Q422, Q302, Q394, Q405, Q279, Q395	Familial adenomatous polyposis 2	Pathogenic (Nov 19, 2020)	criteria provided, single submitter
Select item 145200363.	NM_001048174.2(MUTYH):c.1160_1167dup (p.Lys390fs) GRCh37: Chr1:45797163-45797164 GRCh38: Chr1:45331491-45331492	MUTYH	K275fs, K298fs, K418fs, K390fs, K401fs, K391fs, K405fs, K415fs	Familial adenomatous polyposis 2	Pathogenic (Jan 29, 2021)	criteria provided, single submitter
Select item 529964.	NM_001048174.2(MUTYH):c.1157A>G (p.Gln386Arg) GRCh37: Chr1:45797174 GRCh38: Chr1:45331502	MUTYH	Q414R, Q271R, Q294R, Q397R, Q401R, Q386R, Q387R, Q411R	Gastric cancer	Pathogenic (Sep 2, 2004)	no assertion criteria provided
Select item 40682465.	NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) GRCh37: Chr1:45797175 GRCh38: Chr1:45331503	MUTYH	Q414, Q401, Q386, Q387, Q397, Q271, Q294, Q411	Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Dec 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98183566.	NM_001048174.2(MUTYH):c.1149del (p.Ser384fs) GRCh37: Chr1:45797182 GRCh38: Chr1:45331510	MUTYH	S269fs, S292fs, S384fs, S385fs, S395fs, S399fs, S409fs, S412fs	Hereditary breast ovarian cancer syndrome	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 41790667.	NM_001048174.2(MUTYH):c.1145_1146dup (p.Pro383fs) GRCh37: Chr1:45797184-45797185 GRCh38: Chr1:45331512-45331513	MUTYH	P383fs, P408fs, P411fs, P398fs, P268fs, P291fs, P384fs, P394fs	Neoplasm of stomach, Familial adenomatous polyposis 2	Likely pathogenic (Nov 12, 2015)	no assertion criteria provided
Select item 12783168.	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) GRCh37: Chr1:45797186-45797187 GRCh38: Chr1:45331514-45331515	MUTYH	E383fs, E407fs, E267fs, E290fs, E382fs, E393fs, E397fs, E410fs	Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175433569.	NM_001048174.2(MUTYH):c.1142G>A (p.Trp381Ter) GRCh37: Chr1:45797189 GRCh38: Chr1:45331517	MUTYH	W353, W367, W409, W289, W388, W396, W381, W382, W395, W406, W266, W368, W392*	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 66350170.	NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer) GRCh37: Chr1:45797197 GRCh38: Chr1:45331525	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 14260471.	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) GRCh37: Chr1:45797201 GRCh38: Chr1:45331529	MUTYH	P391L, P262L, P378L, P388L, P285L, P377L, P392L, P402L	Gastric cancer, Familial adenomatous polyposis 2, B lymphoblastic leukemia lymphoma, no ICD-O subtype, Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174867772.	NM_001048174.2(MUTYH):c.1121G>A (p.Trp374Ter) GRCh37: Chr1:45797210 GRCh38: Chr1:45331538	MUTYH	W381, W388, W389, W399, W259, W346, W361, W402, W282, W360, W374, W375, W385*	Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203193573.	NM_001048174.2(MUTYH):c.1112_1119del (p.Ala371fs) GRCh37: Chr1:45797212-45797219 GRCh38: Chr1:45331540-45331547	MUTYH	A256fs, A279fs, A386fs, A371fs, A396fs, A372fs, A382fs, A399fs	Familial adenomatous polyposis 2	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 26553474.	NM_001048174.2(MUTYH):c.1103-32_1115del GRCh37: Chr1:45797216-45797260 GRCh38: Chr1:45331544-45331588	MUTYH		Familial adenomatous polyposis 2, not provided	Pathogenic/Likely pathogenic (Sep 26, 2019)	criteria provided, multiple submitters, no conflicts
Select item 529475.	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) GRCh37: Chr1:45797228 GRCh38: Chr1:45331556	MUTYH	G382D, G396D, G276D, G393D, G369D, G368D, G383D, G253D, G379D	Hereditary cancer-predisposing syndrome, Neoplasm of stomach, Pilomatrixoma, Familial adenomatous polyposis 2, not provided, Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, Li-Fraumeni syndrome 2, Familial colorectal cancer, Familial adenomatous polyposis 2, Lynch syndrome 1, See casesOvarian carcinoma, ...see more	Pathogenic/Likely pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14128276.	NM_001048174.2(MUTYH):c.1103-2A>G GRCh37: Chr1:45797230 GRCh38: Chr1:45331558	MUTYH		Gastric cancer, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, not provided, Carcinoma of colon, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Nov 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83904977.	NM_001048174.2(MUTYH):c.1102+2T>C GRCh37: Chr1:45797331 GRCh38: Chr1:45331659	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 49200278.	NM_001048174.2(MUTYH):c.1102+1G>T GRCh37: Chr1:45797332 GRCh38: Chr1:45331660	MUTYH		Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Mar 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14087479.	NM_001048174.2(MUTYH):c.1102+1G>A GRCh37: Chr1:45797332 GRCh38: Chr1:45331660	MUTYH		Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42157480.	NM_001048174.2(MUTYH):c.1102G>A (p.Gly368Ser) GRCh37: Chr1:45797333 GRCh38: Chr1:45331661	MUTYH	G396S, G368S, G276S, G393S, G379S, G383S, G253S, G369S	not provided	Likely pathogenic (Apr 12, 2018)	criteria provided, single submitter
Select item 15650981.	NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) GRCh37: Chr1:45797348 GRCh38: Chr1:45331676	MUTYH	Q391, Q377, Q271, Q364, Q374, Q378, Q388, Q363, Q248*	Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2, Familial colorectal cancer	Pathogenic (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40684582.	NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) GRCh37: Chr1:45797356 GRCh38: Chr1:45331684	MUTYH	L388P, L361P, L245P, L268P, L375P, L385P, L360P, L371P	Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179927483.	NM_001048174.2(MUTYH):c.1043_1055delinsGCCCT (p.Val348fs) GRCh37: Chr1:45797380-45797392 GRCh38: Chr1:45331708-45331720	MUTYH	V233fs, V376fs, V348fs, V349fs, V359fs, V373fs, V256fs, V363fs	Hereditary cancer-predisposing syndrome	Pathogenic (Oct 28, 2020)	criteria provided, single submitter
Select item 81840884.	NM_001048174.2(MUTYH):c.1051C>T (p.Gln351Ter) GRCh37: Chr1:45797384 GRCh38: Chr1:45331712	MUTYH	Q376, Q362, Q379, Q351, Q352, Q366, Q236, Q259	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169256985.	NM_001048174.2(MUTYH):c.1046del (p.Leu349fs) GRCh37: Chr1:45797389 GRCh38: Chr1:45331717	MUTYH	L234fs, L257fs, L349fs, L350fs, L360fs, L364fs, L374fs, L377fs	Hereditary cancer-predisposing syndrome	Likely pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 42828286.	NM_001048174.2(MUTYH):c.1041T>A (p.Cys347Ter) GRCh37: Chr1:45797394 GRCh38: Chr1:45331722	MUTYH	C375, C347, C348, C362, C232, C358, C372, C255	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 11, 2013)	criteria provided, single submitter
Select item 22453787.	NM_001048174.2(MUTYH):c.1017_1035del (p.Arg340fs) GRCh37: Chr1:45797400-45797418 GRCh38: Chr1:45331728-45331746	MUTYH	R340fs, R341fs, R225fs, R248fs, R351fs, R355fs, R365fs, R368fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 20, 2015)	criteria provided, single submitter
Select item 18577088.	NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs) GRCh37: Chr1:45797417-45797418 GRCh38: Chr1:45331745-45331746	MUTYH	R351fs, R225fs, R248fs, R340fs, R341fs, R355fs, R365fs, R368fs	Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49199989.	NM_001048174.2(MUTYH):c.1017del (p.Arg340fs) GRCh37: Chr1:45797418 GRCh38: Chr1:45331746	MUTYH	R368fs, R225fs, R340fs, R341fs, R248fs, R351fs, R355fs, R365fs	Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40685890.	NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs) GRCh37: Chr1:45797418-45797419 GRCh38: Chr1:45331746-45331747	MUTYH	P339fs, P350fs, P340fs, P354fs, P364fs, P224fs, P247fs, P367fs	Familial adenomatous polyposis 2	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 213390791.	NM_001048174.2(MUTYH):c.1003_1006dup (p.Arg336fs) GRCh37: Chr1:45797428-45797429 GRCh38: Chr1:45331756-45331757	MUTYH	R336fs, R361fs, R221fs, R337fs, R244fs, R351fs, R364fs, R347fs	Familial adenomatous polyposis 2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 37167692.	NM_001048174.2(MUTYH):c.994del (p.Arg332fs) GRCh37: Chr1:45797441 GRCh38: Chr1:45331769	MUTYH	R333fs, R217fs, R240fs, R332fs, R343fs, R357fs, R347fs, R360fs	Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211172893.	NM_001048174.2(MUTYH):c.980dup (p.Val328fs) GRCh37: Chr1:45797454-45797455 GRCh38: Chr1:45331782-45331783	MUTYH	V213fs, V328fs, V329fs, V343fs, V356fs, V236fs, V339fs, V353fs	Familial adenomatous polyposis 2	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 40682994.	NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) GRCh37: Chr1:45797472 GRCh38: Chr1:45331800	MUTYH	W349, W335, W206, W332, W336, W346, W229, W321, W322*	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 53331995.	NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs) GRCh37: Chr1:45797473-45797495 GRCh38: Chr1:45331801-45331823	MUTYH	C222fs, C314fs, C315fs, C329fs, C339fs, C342fs, C199fs, C325fs	Familial adenomatous polyposis 2	Pathogenic (Aug 9, 2021)	criteria provided, single submitter
Select item 177406796.	NM_001048174.2(MUTYH):c.957_958del (p.Glu319fs) GRCh37: Chr1:45797477-45797478 GRCh38: Chr1:45331805-45331806	MUTYH	E227fs, E347fs, E320fs, E330fs, E204fs, E334fs, E344fs, E319fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 29, 2017)	criteria provided, single submitter
Select item 12783597.	NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) GRCh37: Chr1:45797507 GRCh38: Chr1:45331835	MUTYH	Q338, Q310, Q324, Q311, Q325, Q195, Q321, Q218, Q335*	Gastric cancer, Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 2	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136470998.	NM_001048174.2(MUTYH):c.924_925del (p.Gly309fs) GRCh37: Chr1:45797510-45797511 GRCh38: Chr1:45331838-45331839	MUTYH	G337fs, G217fs, G309fs, G320fs, G310fs, G324fs, G194fs, G334fs	Familial adenomatous polyposis 2	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 107272499.	NM_001048174.2(MUTYH):c.914-1G>T GRCh37: Chr1:45797522 GRCh38: Chr1:45331850	MUTYH		Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Pathogenic/Likely pathogenic (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 1348024100.	NM_001048174.2(MUTYH):c.913+1G>A GRCh37: Chr1:45797694 GRCh38: Chr1:45332022	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Jul 12, 2021)	criteria provided, single submitter

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