MYH11[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar

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Items: 37

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14674921.	NM_002474.3(MYH11):c.3858+1G>A GRCh37: Chr16:15820704 GRCh38: Chr16:15726847	MYH11		Aortic aneurysm, familial thoracic 4	Likely pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 141322.	NM_002474.3(MYH11):c.3722_3793del (p.Arg1241_Leu1264del) GRCh37: Chr16:15820770-15820841 GRCh38: Chr16:15726913-15726984	MYH11		Aortic aneurysm, familial thoracic 4	Pathogenic (Mar 1, 2006)	no assertion criteria provided
Select item 19448963.	NM_002474.3(MYH11):c.3652-2A>G GRCh37: Chr16:15820913 GRCh38: Chr16:15727056	MYH11		Aortic aneurysm, familial thoracic 4	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 9309184.	NM_002474.3(MYH11):c.3631C>T (p.Gln1211Ter) GRCh37: Chr16:15826441 GRCh38: Chr16:15732584	MYH11	Q1218, Q1211	Aortic aneurysm, familial thoracic 4	Likely pathogenic (Mar 20, 2020)	criteria provided, single submitter
Select item 9481495.	NM_002474.3(MYH11):c.3603_3607dup (p.Gln1203fs) GRCh37: Chr16:15826464-15826465 GRCh38: Chr16:15732607-15732608	MYH11	Q1203fs, Q1210fs	Aortic aneurysm, familial thoracic 4	Pathogenic (May 8, 2019)	criteria provided, single submitter
Select item 1564016.	NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) GRCh37: Chr16:15826474 GRCh38: Chr16:15732617	MYH11	K1200, K1207	Visceral myopathy, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Pathogenic/Likely pathogenic (Nov 19, 2014)	no assertion criteria provided
Select item 16781437.	NM_002474.3(MYH11):c.3583C>T (p.Gln1195Ter) GRCh37: Chr16:15826489 GRCh38: Chr16:15732632	MYH11	Q1195, Q1202	not provided	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 11201848.	NM_002474.3(MYH11):c.3519_3520delinsTT (p.Glu1173_Gln1174delinsAspTer) GRCh37: Chr16:15826552-15826553 GRCh38: Chr16:15732695-15732696	MYH11		Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Pathogenic (May 27, 2021)	no assertion criteria provided
Select item 15237579.	NM_002474.3(MYH11):c.3506+1G>A GRCh37: Chr16:15829222 GRCh38: Chr16:15735365	MYH11		Aortic aneurysm, familial thoracic 4	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 21154810.	NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs) GRCh37: Chr16:15829259-15829307 GRCh38: Chr16:15735402-15735450	MYH11	K1148fs, K1141fs	Aortic aneurysm, familial thoracic 4	Pathogenic (Jul 16, 2015)	criteria provided, single submitter
Select item 83800111.	NM_002474.3(MYH11):c.3376del (p.Asp1126fs) GRCh37: Chr16:15829353 GRCh38: Chr16:15735496	MYH11	D1126fs, D1133fs	Aortic aneurysm, familial thoracic 4	Pathogenic (Nov 21, 2019)	criteria provided, single submitter
Select item 202939212.	NM_002474.3(MYH11):c.3297del (p.Asp1100fs) GRCh37: Chr16:15829432 GRCh38: Chr16:15735575	MYH11	D1100fs, D1107fs	Aortic aneurysm, familial thoracic 4	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 145635413.	NM_002474.3(MYH11):c.3277C>T (p.Gln1093Ter) GRCh37: Chr16:15831322 GRCh38: Chr16:15737465	MYH11	Q1093, Q1100	Aortic aneurysm, familial thoracic 4	Pathogenic (Feb 11, 2021)	criteria provided, single submitter
Select item 134198414.	NM_002474.3(MYH11):c.3122-2_3124del GRCh37: Chr16:15831475-15831479 GRCh38: Chr16:15737618-15737622	MYH11		Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 167777015.	NM_002474.3(MYH11):c.2836A>T (p.Lys946Ter) GRCh37: Chr16:15835343 GRCh38: Chr16:15741486	MYH11	K946, K953	not provided	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 21154716.	NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs) GRCh37: Chr16:15835369-15835370 GRCh38: Chr16:15741512-15741513	MYH11	R944fs, R937fs	Aortic aneurysm, familial thoracic 4	Pathogenic (Jun 22, 2015)	criteria provided, single submitter
Select item 133449717.	NM_002474.3(MYH11):c.2380C>T (p.Gln794Ter) GRCh37: Chr16:15841458 GRCh38: Chr16:15747601	MYH11	Q794, Q801	Aortic aneurysm, familial thoracic 4	Likely pathogenic (Apr 6, 2021)	criteria provided, single submitter
Select item 200879518.	NM_002474.3(MYH11):c.2334del (p.Glu779fs) GRCh37: Chr16:15841504 GRCh38: Chr16:15747647	MYH11	E786fs, E779fs	Aortic aneurysm, familial thoracic 4	Pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 138385419.	NM_002474.3(MYH11):c.2311C>T (p.Arg771Ter) GRCh37: Chr16:15841527 GRCh38: Chr16:15747670	MYH11	R771, R778	Aortic aneurysm, familial thoracic 4	Pathogenic (Jan 27, 2021)	criteria provided, single submitter
Select item 192351520.	NM_002474.3(MYH11):c.2180+1G>A GRCh37: Chr16:15841903 GRCh38: Chr16:15748046	MYH11		Aortic aneurysm, familial thoracic 4	Likely pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 168596521.	NM_002474.3(MYH11):c.1750-1G>A GRCh37: Chr16:15847366 GRCh38: Chr16:15753509	MYH11		Aortic aneurysm, familial thoracic 4	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 84636422.	NM_002474.3(MYH11):c.1669C>T (p.Gln557Ter) GRCh37: Chr16:15850278 GRCh38: Chr16:15756421	MYH11	Q564, Q557	Aortic aneurysm, familial thoracic 4	Pathogenic (Dec 12, 2019)	criteria provided, single submitter
Select item 20105123.	NM_002474.3(MYH11):c.1619G>A (p.Trp540Ter) GRCh37: Chr16:15850328 GRCh38: Chr16:15756471	MYH11	W540, W547	not provided	Likely pathogenic (Feb 7, 2020)	criteria provided, single submitter
Select item 134351324.	NM_002474.3(MYH11):c.1470dup (p.Met491fs) GRCh37: Chr16:15851788-15851789 GRCh38: Chr16:15757931-15757932	MYH11	M491fs, M498fs	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 125206625.	NM_002474.3(MYH11):c.1033+1G>A GRCh37: Chr16:15865425 GRCh38: Chr16:15771568	MYH11		Megacystis, microcolon, hypoperistalsis syndrome	Pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 211567126.	NM_002474.3(MYH11):c.1024G>T (p.Glu342Ter) GRCh37: Chr16:15865435 GRCh38: Chr16:15771578	MYH11	E342, E349	Aortic aneurysm, familial thoracic 4	Pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 20110227.	NM_002474.3(MYH11):c.868G>C (p.Gly290Arg) GRCh37: Chr16:15869956 GRCh38: Chr16:15776099	MYH11	G290R, G297R	not provided	Likely pathogenic (Dec 12, 2012)	criteria provided, single submitter
Select item 244544728.	NM_002474.3(MYH11):c.766A>G (p.Ile256Val) GRCh37: Chr16:15872661 GRCh38: Chr16:15778804	MYH11	I256V, I263V	Aortic aneurysm, familial thoracic 4	Likely pathogenic (Nov 17, 2022)	criteria provided, single submitter
Select item 211596729.	NM_002474.3(MYH11):c.634-2A>C GRCh37: Chr16:15876336 GRCh38: Chr16:15782479	MYH11		Aortic aneurysm, familial thoracic 4	Likely pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 135158530.	NM_001040113.2(MYH11):c.644del (p.Ser215fs) GRCh37: Chr16:15878565 GRCh38: Chr16:15784708	MYH11	S215fs	Aortic aneurysm, familial thoracic 4	Pathogenic (Jun 25, 2021)	criteria provided, single submitter
Select item 46570431.	NC_000016.10:g.(?_15823235)_(15838272_?)del GRCh37: Chr16:15917092-15932129 GRCh38: Chr16:15823235-15838272	MYH11		Aortic aneurysm, familial thoracic 4	Pathogenic (Aug 4, 2021)	criteria provided, single submitter
Select item 187933432.	NM_002474.3(MYH11):c.436A>T (p.Lys146Ter) GRCh37: Chr16:15917178 GRCh38: Chr16:15823321	MYH11	K146*	not provided	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 61747833.	NM_002474.3(MYH11):c.379C>T (p.Pro127Ser) GRCh37: Chr16:15917235 GRCh38: Chr16:15823378	MYH11	P127S	Visceral myopathy	Likely pathogenic (Jan 17, 2019)	no assertion criteria provided
Select item 51712634.	NM_002474.3(MYH11):c.1A>G (p.Met1Val) GRCh37: Chr16:15932109 GRCh38: Chr16:15838252	MYH11	M1V	Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	no assertion criteria provided
Select item 242355335.	NC_000016.9:g.(?_15826401)_(15829455_?)del GRCh37: Chr16:15826401-15829455	MYH11		Aortic aneurysm, familial thoracic 4	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 242355236.	NC_000016.9:g.(?_15832402)_(15850391_?)del GRCh37: Chr16:15832402-15850391	MYH11		Aortic aneurysm, familial thoracic 4	Pathogenic (May 14, 2022)	criteria provided, single submitter
Select item 242355137.	NC_000016.9:g.(?_15892497)_(15892564_?)del GRCh37: Chr16:15892497-15892564	MYH11		Aortic aneurysm, familial thoracic 4	Pathogenic (Mar 11, 2022)	criteria provided, single submitter

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Items: 37