ClinVar for MedGen (Select 338704) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24454471.	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 24235552.	NC_000016.9:g.(?_15838966)_(15850391_?)dup GRCh37: Chr16:15838966-15850391	MYH11		Aortic aneurysm, familial thoracic 4	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 24235543.	NC_000016.9:g.(?_15808746)_(15818869_?)del GRCh37: Chr16:15808746-15818869	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 24235534.	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 24235525.	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 24235516.	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
Select item 24235507.	NC_000016.9:g.(?_15857633)_(15857768_?)del GRCh37: Chr16:15857633-15857768	MYH11		Aortic aneurysm, familial thoracic 4	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 24224878.	NM_002474.3(MYH11):c.2796G>A (p.Glu932=) GRCh37: Chr16:15835383 GRCh38: Chr16:15741526	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 24203349.	NM_002474.3(MYH11):c.3841A>G (p.Lys1281Glu) GRCh37: Chr16:15820722 GRCh38: Chr16:15726865	MYH11	K1281E, K1288E	Aortic aneurysm, familial thoracic 4	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 242002110.	NM_002474.3(MYH11):c.1560G>A (p.Glu520=) GRCh37: Chr16:15851699 GRCh38: Chr16:15757842	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 241974211.	NM_002474.3(MYH11):c.4116+8C>T GRCh37: Chr16:15818496 GRCh38: Chr16:15724639	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 241842512.	NM_002474.3(MYH11):c.5786+12G>C GRCh37: Chr16:15808754 GRCh38: Chr16:15714897	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 220245213.	NM_002474.3(MYH11):c.889+20A>G GRCh37: Chr16:15869915 GRCh38: Chr16:15776058	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 220224214.	NM_002474.3(MYH11):c.3985C>T (p.Arg1329Trp) GRCh37: Chr16:15818635 GRCh38: Chr16:15724778	MYH11, NDE1	R1336W, R1329W	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 220023615.	NM_002474.3(MYH11):c.1206G>A (p.Lys402=) GRCh37: Chr16:15854439 GRCh38: Chr16:15760582	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 219957716.	NM_002474.3(MYH11):c.5295+9C>A GRCh37: Chr16:15812163 GRCh38: Chr16:15718306	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 219773517.	NM_002474.3(MYH11):c.4713G>A (p.Ala1571=) GRCh37: Chr16:15814774 GRCh38: Chr16:15720917	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 219306918.	NM_002474.3(MYH11):c.714C>A (p.Asn238Lys) GRCh37: Chr16:15876254 GRCh38: Chr16:15782397	MYH11	N238K, N245K	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 219282019.	NM_002474.3(MYH11):c.5172-20C>T GRCh37: Chr16:15812315 GRCh38: Chr16:15718458	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 219030020.	NM_002474.3(MYH11):c.503-13T>C GRCh37: Chr16:15892557 GRCh38: Chr16:15798700	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 219027721.	NM_002474.3(MYH11):c.3652-7T>G GRCh37: Chr16:15820918 GRCh38: Chr16:15727061	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 219017122.	NM_002474.3(MYH11):c.4953+7G>A GRCh37: Chr16:15814001 GRCh38: Chr16:15720144	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 218958623.	NM_002474.3(MYH11):c.3710C>G (p.Ala1237Gly) GRCh37: Chr16:15820853 GRCh38: Chr16:15726996	MYH11	A1237G, A1244G	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 218846224.	NM_002474.3(MYH11):c.2753A>G (p.Gln918Arg) GRCh37: Chr16:15835426 GRCh38: Chr16:15741569	MYH11	Q918R, Q925R	Aortic aneurysm, familial thoracic 4, not provided	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218801925.	NM_002474.3(MYH11):c.4686A>C (p.Lys1562Asn) GRCh37: Chr16:15814801 GRCh38: Chr16:15720944	MYH11, NDE1	K1562N, K1569N	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 218682426.	NM_002474.3(MYH11):c.2997+13C>T GRCh37: Chr16:15833895 GRCh38: Chr16:15740038	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 218571327.	NM_002474.3(MYH11):c.5403C>T (p.Leu1801=) GRCh37: Chr16:15811098 GRCh38: Chr16:15717241	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 218555328.	NM_002474.3(MYH11):c.1401+12T>G GRCh37: Chr16:15853421 GRCh38: Chr16:15759564	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 218445229.	NM_002474.3(MYH11):c.3960C>T (p.Thr1320=) GRCh37: Chr16:15818748 GRCh38: Chr16:15724891	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 217868130.	NM_002474.3(MYH11):c.5786+19G>A GRCh37: Chr16:15808747 GRCh38: Chr16:15714890	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 217786331.	NM_002474.3(MYH11):c.1249-4dup GRCh37: Chr16:15853588-15853589 GRCh38: Chr16:15759731-15759732	MYH11		Aortic aneurysm, familial thoracic 4	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 217784632.	NM_002474.3(MYH11):c.5083-4C>T GRCh37: Chr16:15813169 GRCh38: Chr16:15719312	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 217547833.	NM_002474.3(MYH11):c.5296-17T>C GRCh37: Chr16:15811222 GRCh38: Chr16:15717365	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 217460334.	NM_002474.3(MYH11):c.1758T>C (p.Tyr586=) GRCh37: Chr16:15847357 GRCh38: Chr16:15753500	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 217382035.	NM_002474.3(MYH11):c.633+1897G>A GRCh37: Chr16:15878590 GRCh38: Chr16:15784733	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 216509936.	NM_002474.3(MYH11):c.791-10T>G GRCh37: Chr16:15870043 GRCh38: Chr16:15776186	MYH11		Aortic aneurysm, familial thoracic 4	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 216392537.	NM_002474.3(MYH11):c.74T>G (p.Val25Gly) GRCh37: Chr16:15932036 GRCh38: Chr16:15838179	MYH11	V25G	Aortic aneurysm, familial thoracic 4	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 216353638.	NM_002474.3(MYH11):c.505C>A (p.Arg169=) GRCh37: Chr16:15892542 GRCh38: Chr16:15798685	MYH11		Aortic aneurysm, familial thoracic 4	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 216073939.	NM_002474.3(MYH11):c.3048A>G (p.Ala1016=) GRCh37: Chr16:15832495 GRCh38: Chr16:15738638	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 215870040.	NM_002474.3(MYH11):c.1861G>A (p.Asp621Asn) GRCh37: Chr16:15847254 GRCh38: Chr16:15753397	MYH11	D621N, D628N	Aortic aneurysm, familial thoracic 4	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 215339041.	NM_002474.3(MYH11):c.4846G>C (p.Ala1616Pro) GRCh37: Chr16:15814115 GRCh38: Chr16:15720258	NDE1, MYH11	A1616P, A1623P	Aortic aneurysm, familial thoracic 4	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 215141942.	NM_002474.3(MYH11):c.5082+10C>A GRCh37: Chr16:15813432 GRCh38: Chr16:15719575	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 214908143.	NM_002474.3(MYH11):c.3245A>G (p.Lys1082Arg) GRCh37: Chr16:15831354 GRCh38: Chr16:15737497	MYH11	K1089R, K1082R	Aortic aneurysm, familial thoracic 4, not provided	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214845244.	NM_002474.3(MYH11):c.1836C>A (p.Asp612Glu) GRCh37: Chr16:15847279 GRCh38: Chr16:15753422	MYH11	D612E, D619E	Aortic aneurysm, familial thoracic 4	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214815945.	NM_002474.3(MYH11):c.4954-5T>C GRCh37: Chr16:15813575 GRCh38: Chr16:15719718	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 214670246.	NM_002474.3(MYH11):c.1503C>A (p.Arg501=) GRCh37: Chr16:15851756 GRCh38: Chr16:15757899	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 214385147.	NM_002474.3(MYH11):c.4365+7G>A GRCh37: Chr16:15818011 GRCh38: Chr16:15724154	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 214343148.	NM_002474.3(MYH11):c.2409A>G (p.Arg803=) GRCh37: Chr16:15841429 GRCh38: Chr16:15747572	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 214084549.	NM_002474.3(MYH11):c.3284C>T (p.Ala1095Val) GRCh37: Chr16:15831315 GRCh38: Chr16:15737458	MYH11	A1095V, A1102V	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 214078550.	NM_001040113.2(MYH11):c.5808-3_5808-2del GRCh37: Chr16:15802700-15802701 GRCh38: Chr16:15708843-15708844	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 213884751.	NM_002474.3(MYH11):c.2563C>A (p.Gln855Lys) GRCh37: Chr16:15835706 GRCh38: Chr16:15741849	MYH11	Q862K, Q855K	Aortic aneurysm, familial thoracic 4	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 213300052.	NM_002474.3(MYH11):c.5193G>A (p.Lys1731=) GRCh37: Chr16:15812274 GRCh38: Chr16:15718417	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 213153153.	NM_002474.3(MYH11):c.2649G>T (p.Ser883=) GRCh37: Chr16:15835620 GRCh38: Chr16:15741763	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 212807254.	NM_002474.3(MYH11):c.1616G>A (p.Cys539Tyr) GRCh37: Chr16:15850331 GRCh38: Chr16:15756474	MYH11	C546Y, C539Y	Aortic aneurysm, familial thoracic 4	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 212799255.	NM_002474.3(MYH11):c.2412-8C>G GRCh37: Chr16:15839102 GRCh38: Chr16:15745245	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 212661656.	NM_002474.3(MYH11):c.981G>T (p.Gln327His) GRCh37: Chr16:15865478 GRCh38: Chr16:15771621	MYH11	Q327H, Q334H	Aortic aneurysm, familial thoracic 4	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212372357.	NM_002474.3(MYH11):c.2679G>A (p.Gln893=) GRCh37: Chr16:15835500 GRCh38: Chr16:15741643	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 212234458.	NM_002474.3(MYH11):c.890-5_890-3del GRCh37: Chr16:15865572-15865574 GRCh38: Chr16:15771715-15771717	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 211739959.	NM_002474.3(MYH11):c.4117-5T>G GRCh37: Chr16:15818271 GRCh38: Chr16:15724414	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 211678260.	NM_002474.3(MYH11):c.4554C>T (p.Ser1518=) GRCh37: Chr16:15815303 GRCh38: Chr16:15721446	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 211678161.	NM_002474.3(MYH11):c.3719T>C (p.Leu1240Pro) GRCh37: Chr16:15820844 GRCh38: Chr16:15726987	MYH11	L1240P, L1247P	Aortic aneurysm, familial thoracic 4	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211596762.	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 211567163.	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 211451764.	NM_002474.3(MYH11):c.5405A>C (p.His1802Pro) GRCh37: Chr16:15811096 GRCh38: Chr16:15717239	MYH11, NDE1	H1802P, H1809P	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 210545865.	NM_002474.3(MYH11):c.1248+10T>A GRCh37: Chr16:15854387 GRCh38: Chr16:15760530	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210313966.	NM_001040113.2(MYH11):c.634C>G (p.Gln212Glu) GRCh37: Chr16:15878575 GRCh38: Chr16:15784718	MYH11	Q212E	Aortic aneurysm, familial thoracic 4	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 209354267.	NM_002474.3(MYH11):c.890-9T>C GRCh37: Chr16:15865578 GRCh38: Chr16:15771721	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 209246768.	NM_002474.3(MYH11):c.1130-10C>T GRCh37: Chr16:15854525 GRCh38: Chr16:15760668	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 209096269.	NM_002474.3(MYH11):c.5636T>C (p.Val1879Ala) GRCh37: Chr16:15808916 GRCh38: Chr16:15715059	MYH11, NDE1	V1879A, V1886A	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 209036870.	NM_002474.3(MYH11):c.1864+18C>T GRCh37: Chr16:15847233 GRCh38: Chr16:15753376	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 208935071.	NM_002474.3(MYH11):c.5527T>A (p.Ser1843Thr) GRCh37: Chr16:15809107 GRCh38: Chr16:15715250	NDE1, MYH11	S1850T, S1843T	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 208793272.	NM_002474.3(MYH11):c.4609C>T (p.Leu1537=) GRCh37: Chr16:15814878 GRCh38: Chr16:15721021	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208750673.	NM_002474.3(MYH11):c.5171+2T>C GRCh37: Chr16:15813075 GRCh38: Chr16:15719218	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 208576574.	NM_002474.3(MYH11):c.2277C>T (p.Asn759=) GRCh37: Chr16:15841561 GRCh38: Chr16:15747704	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 208083075.	NM_002474.3(MYH11):c.3859-16C>G GRCh37: Chr16:15818865 GRCh38: Chr16:15725008	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 207937876.	NM_002474.3(MYH11):c.4885C>T (p.Leu1629=) GRCh37: Chr16:15814076 GRCh38: Chr16:15720219	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 207875577.	NM_002474.3(MYH11):c.2652+14T>C GRCh37: Chr16:15835603 GRCh38: Chr16:15741746	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 207686878.	NM_002474.3(MYH11):c.4117-6T>C GRCh37: Chr16:15818272 GRCh38: Chr16:15724415	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 207558479.	NM_002474.3(MYH11):c.5003G>C (p.Arg1668Thr) GRCh37: Chr16:15813521 GRCh38: Chr16:15719664	MYH11, NDE1	R1668T, R1675T	Aortic aneurysm, familial thoracic 4	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 207439580.	NM_002474.3(MYH11):c.3506+8G>A GRCh37: Chr16:15829215 GRCh38: Chr16:15735358	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 207128281.	NM_002474.3(MYH11):c.5742C>G (p.Asn1914Lys) GRCh37: Chr16:15808810 GRCh38: Chr16:15714953	NDE1, MYH11	N1921K, N1914K	Aortic aneurysm, familial thoracic 4	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 207110582.	NM_002474.3(MYH11):c.2350T>C (p.Leu784=) GRCh37: Chr16:15841488 GRCh38: Chr16:15747631	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 207025383.	NM_002474.3(MYH11):c.2442C>A (p.Thr814=) GRCh37: Chr16:15839064 GRCh38: Chr16:15745207	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 206996184.	NM_002474.3(MYH11):c.4791+12C>T GRCh37: Chr16:15814684 GRCh38: Chr16:15720827	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 206993985.	NM_002474.3(MYH11):c.5031G>C (p.Glu1677Asp) GRCh37: Chr16:15813493 GRCh38: Chr16:15719636	NDE1, MYH11	E1677D, E1684D	Aortic aneurysm, familial thoracic 4	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 206836486.	NM_002474.3(MYH11):c.3855G>A (p.Leu1285=) GRCh37: Chr16:15820708 GRCh38: Chr16:15726851	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 206821487.	NM_002474.3(MYH11):c.3505A>C (p.Arg1169=) GRCh37: Chr16:15829224 GRCh38: Chr16:15735367	MYH11		Aortic aneurysm, familial thoracic 4	Uncertain significance (Aug 30, 2018)	criteria provided, single submitter
Select item 206778288.	NM_002474.3(MYH11):c.5785A>C (p.Arg1929=) GRCh37: Chr16:15808767 GRCh38: Chr16:15714910	MYH11, NDE1		Aortic aneurysm, familial thoracic 4	Uncertain significance (Jul 21, 2021)	criteria provided, single submitter
Select item 206490989.	NM_002474.3(MYH11):c.345+9T>G GRCh37: Chr16:15931756 GRCh38: Chr16:15837899	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 206332090.	NM_002474.3(MYH11):c.3045T>C (p.Leu1015=) GRCh37: Chr16:15832498 GRCh38: Chr16:15738641	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 205728091.	NM_002474.3(MYH11):c.5117C>T (p.Ala1706Val) GRCh37: Chr16:15813131 GRCh38: Chr16:15719274	MYH11, NDE1	A1706V, A1713V	Aortic aneurysm, familial thoracic 4	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 205538692.	NM_002474.3(MYH11):c.5171+12_5171+15del GRCh37: Chr16:15813062-15813065 GRCh38: Chr16:15719205-15719208	NDE1, MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 204975593.	NM_002474.3(MYH11):c.2996A>G (p.Lys999Arg) GRCh37: Chr16:15833909 GRCh38: Chr16:15740052	MYH11	K1006R, K999R	Aortic aneurysm, familial thoracic 4	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 204567694.	NM_002474.3(MYH11):c.530+18T>C GRCh37: Chr16:15892499 GRCh38: Chr16:15798642	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 204285795.	NM_002474.3(MYH11):c.2894C>T (p.Ala965Val) GRCh37: Chr16:15834011 GRCh38: Chr16:15740154	MYH11	A965V, A972V	Aortic aneurysm, familial thoracic 4	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 204209396.	NM_002474.3(MYH11):c.3638A>C (p.Glu1213Ala) GRCh37: Chr16:15826434 GRCh38: Chr16:15732577	MYH11	E1220A, E1213A	Aortic aneurysm, familial thoracic 4	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 204027997.	NM_002474.3(MYH11):c.2859+12_2859+19del GRCh37: Chr16:15835301-15835308 GRCh38: Chr16:15741444-15741451	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 203974098.	NM_002474.3(MYH11):c.791-6A>C GRCh37: Chr16:15870039 GRCh38: Chr16:15776182	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 203687299.	NM_002474.3(MYH11):c.486C>T (p.Tyr162=) GRCh37: Chr16:15917128 GRCh38: Chr16:15823271	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 2036868100.	NM_002474.3(MYH11):c.2998-11T>C GRCh37: Chr16:15832556 GRCh38: Chr16:15738699	MYH11		Aortic aneurysm, familial thoracic 4	Likely benign (Oct 26, 2022)	criteria provided, single submitter

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