ClinVar for MedGen (Select 462427) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000601.	NM_053025.4(MYLK):c.4457C>T (p.Thr1486Ile) GRCh37: Chr3:123366233 GRCh38: Chr3:123647386	MYLK	T1310I, T1417I, T1486I	Aortic aneurysm, familial thoracic 7, Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24271612.	NC_000003.11:g.(?_123003455)_(125313644_?)dup GRCh37: Chr3:123003455-125313644	CCDC14, SLC12A8, ITGB5, UMPS, ADCY5, SNX4, HEG1, OSBPL11, KALRN, MYLK, ROPN1, HACD2, MUC13, ZNF148		Aortic aneurysm, familial thoracic 7	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 24271603.	NC_000003.11:g.(?_123401058)_(123401181_?)dup GRCh37: Chr3:123401058-123401181	MYLK		Aortic aneurysm, familial thoracic 7	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 24271594.	NC_000003.11:g.(?_123003455)_(123512688_?)del GRCh37: Chr3:123003455-123512688	ADCY5, HACD2, MYLK		Aortic aneurysm, familial thoracic 7	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 24218935.	NM_053025.4(MYLK):c.754+6_754+7insT GRCh37: Chr3:123456218-123456219 GRCh38: Chr3:123737371-123737372	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 24201006.	NM_053025.4(MYLK):c.1456A>G (p.Ser486Gly) GRCh37: Chr3:123451803 GRCh38: Chr3:123732956	MYLK	S310G, S486G	Aortic aneurysm, familial thoracic 7	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 24200917.	NM_053025.4(MYLK):c.4691A>G (p.Lys1564Arg) GRCh37: Chr3:123359280 GRCh38: Chr3:123640433	MYLK	K1388R, K1495R, K1564R	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 12, 2022)	criteria provided, single submitter
Select item 24198448.	NM_053025.4(MYLK):c.996C>G (p.Ala332=) GRCh37: Chr3:123452847 GRCh38: Chr3:123734000	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 24187399.	NM_053025.4(MYLK):c.1060C>T (p.Pro354Ser) GRCh37: Chr3:123452783 GRCh38: Chr3:123733936	MYLK	P178S, P354S	Aortic aneurysm, familial thoracic 7	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 241766810.	NM_053025.4(MYLK):c.27G>A (p.Ser9=) GRCh37: Chr3:123512662 GRCh38: Chr3:123793815	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 241741511.	NM_053025.4(MYLK):c.2868C>T (p.Val956=) GRCh37: Chr3:123419447 GRCh38: Chr3:123700600	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 241640412.	NM_053025.4(MYLK):c.869C>T (p.Ala290Val) GRCh37: Chr3:123452974 GRCh38: Chr3:123734127	MYLK	A114V, A290V	Aortic aneurysm, familial thoracic 7	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 241394313.	NM_053025.4(MYLK):c.3295G>A (p.Ala1099Thr) GRCh37: Chr3:123419020 GRCh38: Chr3:123700173	MYLK	A1030T, A1099T, A923T	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 241391414.	NM_053025.4(MYLK):c.2365G>A (p.Ala789Thr) GRCh37: Chr3:123426626 GRCh38: Chr3:123707779	MYLK	A613T, A720T, A789T	Aortic aneurysm, familial thoracic 7	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 241382515.	NM_053025.4(MYLK):c.770A>G (p.Asn257Ser) GRCh37: Chr3:123454248 GRCh38: Chr3:123735401	MYLK	N257S, N81S	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 241381416.	NM_053025.4(MYLK):c.5628C>T (p.Asp1876=) GRCh37: Chr3:123333069 GRCh38: Chr3:123614222	MYLK, MYLK-AS1		Aortic aneurysm, familial thoracic 7	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 220291417.	NM_053025.4(MYLK):c.3907G>C (p.Glu1303Gln) GRCh37: Chr3:123383030 GRCh38: Chr3:123664183	MYLK	E1303Q, E1127Q, E1234Q	Aortic aneurysm, familial thoracic 7	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 220228118.	NM_053025.4(MYLK):c.5218A>G (p.Met1740Val) GRCh37: Chr3:123345685 GRCh38: Chr3:123626838	MYLK-AS1, MYLK	M1564V, M1740V, M1671V, M1620V, M1689V	Aortic aneurysm, familial thoracic 7	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 220008519.	NM_053025.4(MYLK):c.1692C>T (p.Gly564=) GRCh37: Chr3:123441087 GRCh38: Chr3:123722240	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 219959020.	NM_053025.4(MYLK):c.2814_2815del (p.Val938_Ser939insTer) GRCh37: Chr3:123419500-123419501 GRCh38: Chr3:123700653-123700654	MYLK		Aortic aneurysm, familial thoracic 7	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 219906921.	NM_053025.4(MYLK):c.3986-19T>C GRCh37: Chr3:123376294 GRCh38: Chr3:123657447	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 219906522.	NM_053025.4(MYLK):c.3339G>A (p.Lys1113=) GRCh37: Chr3:123418976 GRCh38: Chr3:123700129	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 219858223.	NM_053025.4(MYLK):c.5040C>T (p.Phe1680=) GRCh37: Chr3:123348395 GRCh38: Chr3:123629548	LOC126806791, MYLK, MYLK-AS1		Aortic aneurysm, familial thoracic 7	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 219794024.	NM_053025.4(MYLK):c.2687A>G (p.Asp896Gly) GRCh37: Chr3:123419628 GRCh38: Chr3:123700781	MYLK	D896G, D720G, D827G	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 219749425.	NM_053025.4(MYLK):c.1673G>C (p.Arg558Pro) GRCh37: Chr3:123441106 GRCh38: Chr3:123722259	MYLK	R382P, R558P, R489P	Aortic aneurysm, familial thoracic 7	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219728426.	NM_053025.4(MYLK):c.1778C>T (p.Ser593Phe) GRCh37: Chr3:123441001 GRCh38: Chr3:123722154	MYLK	S417F, S524F, S593F	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219726127.	NM_053025.4(MYLK):c.180A>G (p.Pro60=) GRCh37: Chr3:123471371 GRCh38: Chr3:123752524	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 219642428.	NM_053025.4(MYLK):c.1080C>G (p.Gly360=) GRCh37: Chr3:123452763 GRCh38: Chr3:123733916	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 219428229.	NM_053025.4(MYLK):c.4850C>A (p.Ser1617Tyr) GRCh37: Chr3:123357029 GRCh38: Chr3:123638182	MYLK	S1441Y, S1548Y, S1617Y	Aortic aneurysm, familial thoracic 7	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 219230730.	NM_053025.4(MYLK):c.373+18C>G GRCh37: Chr3:123471160 GRCh38: Chr3:123752313	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 219167931.	NM_053025.4(MYLK):c.1734T>C (p.His578=) GRCh37: Chr3:123441045 GRCh38: Chr3:123722198	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 219058832.	NM_053025.4(MYLK):c.3832-7C>T GRCh37: Chr3:123383112 GRCh38: Chr3:123664265	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 218913333.	NM_053025.4(MYLK):c.755-18C>T GRCh37: Chr3:123454281 GRCh38: Chr3:123735434	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 218796934.	NM_053025.4(MYLK):c.4415C>T (p.Ser1472Phe) GRCh37: Chr3:123367818 GRCh38: Chr3:123648971	MYLK	S1296F, S1403F, S1472F	Aortic aneurysm, familial thoracic 7	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 218677635.	NM_053025.4(MYLK):c.4269G>T (p.Thr1423=) GRCh37: Chr3:123375992 GRCh38: Chr3:123657145	MYLK		Aortic aneurysm, familial thoracic 7	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 218533336.	NM_053025.4(MYLK):c.724G>A (p.Ala242Thr) GRCh37: Chr3:123456255 GRCh38: Chr3:123737408	MYLK	A66T, A242T	Aortic aneurysm, familial thoracic 7	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 218502037.	NM_053025.4(MYLK):c.2805A>C (p.Pro935=) GRCh37: Chr3:123419510 GRCh38: Chr3:123700663	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 218333538.	NM_053025.4(MYLK):c.2463-14T>G GRCh37: Chr3:123419866 GRCh38: Chr3:123701019	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 218257739.	NM_053025.4(MYLK):c.1865C>T (p.Ala622Val) GRCh37: Chr3:123428680 GRCh38: Chr3:123709833	MYLK	A553V, A446V, A622V	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 218165940.	NM_053025.4(MYLK):c.4619+17C>T GRCh37: Chr3:123366054 GRCh38: Chr3:123647207	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 218113441.	NM_053025.4(MYLK):c.5056G>A (p.Asp1686Asn) GRCh37: Chr3:123348379 GRCh38: Chr3:123629532	LOC126806791, MYLK, MYLK-AS1	D1617N, D1510N, D1686N	Aortic aneurysm, familial thoracic 7	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 217837542.	NM_053025.4(MYLK):c.4183C>T (p.Leu1395=) GRCh37: Chr3:123376078 GRCh38: Chr3:123657231	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 217835743.	NM_053025.4(MYLK):c.3626C>T (p.Ser1209Phe) GRCh37: Chr3:123401097 GRCh38: Chr3:123682250	MYLK	S1209F, S1033F, S1140F	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 217786244.	NM_053025.4(MYLK):c.5239-16C>T GRCh37: Chr3:123339199 GRCh38: Chr3:123620352	MYLK-AS1, MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 217577145.	NM_053025.4(MYLK):c.3705A>G (p.Ala1235=) GRCh37: Chr3:123385192 GRCh38: Chr3:123666345	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 217260646.	NM_053025.4(MYLK):c.18G>A (p.Leu6=) GRCh37: Chr3:123512671 GRCh38: Chr3:123793824	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 217171747.	NM_053025.4(MYLK):c.1782C>T (p.Cys594=) GRCh37: Chr3:123440997 GRCh38: Chr3:123722150	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 216702848.	NM_053025.4(MYLK):c.5211G>A (p.Lys1737=) GRCh37: Chr3:123345692 GRCh38: Chr3:123626845	MYLK, MYLK-AS1		Aortic aneurysm, familial thoracic 7	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 216452149.	NM_053025.4(MYLK):c.1289C>T (p.Thr430Ile) GRCh37: Chr3:123452554 GRCh38: Chr3:123733707	MYLK	T254I, T430I	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 216444550.	NM_053025.4(MYLK):c.2664C>T (p.Arg888=) GRCh37: Chr3:123419651 GRCh38: Chr3:123700804	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216310751.	NM_053025.4(MYLK):c.1127C>T (p.Pro376Leu) GRCh37: Chr3:123452716 GRCh38: Chr3:123733869	MYLK	P200L, P376L	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 216198952.	NM_053025.4(MYLK):c.1539C>T (p.Ala513=) GRCh37: Chr3:123444903 GRCh38: Chr3:123726056	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 216105453.	NM_053025.4(MYLK):c.4169A>G (p.Asn1390Ser) GRCh37: Chr3:123376092 GRCh38: Chr3:123657245	MYLK	N1214S, N1390S, N1321S	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 215841454.	NM_053025.4(MYLK):c.2669A>G (p.Gln890Arg) GRCh37: Chr3:123419646 GRCh38: Chr3:123700799	MYLK	Q714R, Q821R, Q890R	Aortic aneurysm, familial thoracic 7	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 215702655.	NM_053025.4(MYLK):c.4578T>A (p.Asp1526Glu) GRCh37: Chr3:123366112 GRCh38: Chr3:123647265	MYLK	D1350E, D1457E, D1526E	Aortic aneurysm, familial thoracic 7	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 215694756.	NM_053025.4(MYLK):c.1309+5G>A GRCh37: Chr3:123452529 GRCh38: Chr3:123733682	MYLK		Aortic aneurysm, familial thoracic 7	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 215433557.	NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp) GRCh37: Chr3:123451856 GRCh38: Chr3:123733009	MYLK	G468D, G292D	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 7	Uncertain significance (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215353658.	NM_053025.4(MYLK):c.1259C>T (p.Pro420Leu) GRCh37: Chr3:123452584 GRCh38: Chr3:123733737	MYLK	P244L, P420L	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 215293159.	NM_053025.4(MYLK):c.2121G>C (p.Gln707His) GRCh37: Chr3:123427564 GRCh38: Chr3:123708717	MYLK	Q638H, Q531H, Q707H	Aortic aneurysm, familial thoracic 7	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 215237860.	NM_053025.4(MYLK):c.2681A>G (p.Gln894Arg) GRCh37: Chr3:123419634 GRCh38: Chr3:123700787	MYLK	Q718R, Q825R, Q894R	Aortic aneurysm, familial thoracic 7	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 215176261.	NM_053025.4(MYLK):c.118C>T (p.Arg40Trp) GRCh37: Chr3:123512571 GRCh38: Chr3:123793724	MYLK	R40W	Aortic aneurysm, familial thoracic 7	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 214774462.	NM_053025.4(MYLK):c.486G>A (p.Lys162=) GRCh37: Chr3:123457846 GRCh38: Chr3:123738999	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 214683063.	NM_053025.4(MYLK):c.232C>G (p.Arg78Gly) GRCh37: Chr3:123471319 GRCh38: Chr3:123752472	MYLK	R78G	Aortic aneurysm, familial thoracic 7	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 214662564.	NM_053025.4(MYLK):c.3751G>T (p.Ala1251Ser) GRCh37: Chr3:123385146 GRCh38: Chr3:123666299	MYLK	A1251S, A1075S, A1182S	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 214600365.	NM_053025.4(MYLK):c.2842C>T (p.Pro948Ser) GRCh37: Chr3:123419473 GRCh38: Chr3:123700626	MYLK	P772S, P948S, P879S	Aortic aneurysm, familial thoracic 7	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 214568466.	NM_053025.4(MYLK):c.1797C>T (p.Thr599=) GRCh37: Chr3:123440982 GRCh38: Chr3:123722135	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 214551967.	NM_053025.4(MYLK):c.3703+12C>T GRCh37: Chr3:123385972 GRCh38: Chr3:123667125	MYLK		Aortic aneurysm, familial thoracic 7	Benign (Oct 26, 2022)	criteria provided, single submitter
Select item 214547268.	NM_053025.4(MYLK):c.423-12A>G GRCh37: Chr3:123457921 GRCh38: Chr3:123739074	MYLK		Aortic aneurysm, familial thoracic 7	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214499169.	NM_053025.4(MYLK):c.1652-15G>A GRCh37: Chr3:123441142 GRCh38: Chr3:123722295	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 214448070.	NM_053025.4(MYLK):c.2427G>A (p.Leu809=) GRCh37: Chr3:123420320 GRCh38: Chr3:123701473	MYLK		Aortic aneurysm, familial thoracic 7	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 214376971.	NM_053025.4(MYLK):c.5500+10A>G GRCh37: Chr3:123337476 GRCh38: Chr3:123618629	MYLK-AS1, MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 214341172.	NM_053025.4(MYLK):c.4644G>A (p.Glu1548=) GRCh37: Chr3:123359327 GRCh38: Chr3:123640480	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 214321173.	NM_053025.4(MYLK):c.2395C>A (p.Arg799=) GRCh37: Chr3:123420352 GRCh38: Chr3:123701505	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 214281874.	NM_053025.4(MYLK):c.3590A>G (p.Lys1197Arg) GRCh37: Chr3:123401133 GRCh38: Chr3:123682286	MYLK	K1021R, K1197R, K1128R	Aortic aneurysm, familial thoracic 7	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 214193075.	NM_053025.4(MYLK):c.2463-12C>A GRCh37: Chr3:123419864 GRCh38: Chr3:123701017	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 214181676.	NM_053025.4(MYLK):c.4620-13C>T GRCh37: Chr3:123359364 GRCh38: Chr3:123640517	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jun 16, 2022)	criteria provided, single submitter
Select item 214054677.	NM_053025.4(MYLK):c.1517-5C>T GRCh37: Chr3:123444930 GRCh38: Chr3:123726083	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 214017678.	NM_053025.4(MYLK):c.61_62delinsTA (p.Pro21Tyr) GRCh37: Chr3:123512627-123512628 GRCh38: Chr3:123793780-123793781	MYLK	P21Y	Aortic aneurysm, familial thoracic 7	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 213980979.	NM_053025.4(MYLK):c.480A>G (p.Pro160=) GRCh37: Chr3:123457852 GRCh38: Chr3:123739005	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 213909980.	NM_053025.4(MYLK):c.2478C>G (p.Ala826=) GRCh37: Chr3:123419837 GRCh38: Chr3:123700990	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 213893481.	NM_053025.4(MYLK):c.4415C>A (p.Ser1472Tyr) GRCh37: Chr3:123367818 GRCh38: Chr3:123648971	MYLK	S1403Y, S1296Y, S1472Y	Aortic aneurysm, familial thoracic 7	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 213256882.	NM_053025.4(MYLK):c.1108dup (p.Glu370fs) GRCh37: Chr3:123452734-123452735 GRCh38: Chr3:123733887-123733888	MYLK	E194fs, E370fs	Aortic aneurysm, familial thoracic 7	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212249583.	NM_053025.4(MYLK):c.4632G>A (p.Gly1544=) GRCh37: Chr3:123359339 GRCh38: Chr3:123640492	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 212240484.	NM_053025.4(MYLK):c.4978C>T (p.Pro1660Ser) GRCh37: Chr3:123348457 GRCh38: Chr3:123629610	LOC126806791, MYLK, MYLK-AS1	P1660S, P1484S, P1591S	Aortic aneurysm, familial thoracic 7	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 212008285.	NM_053025.4(MYLK):c.4671G>T (p.Leu1557=) GRCh37: Chr3:123359300 GRCh38: Chr3:123640453	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 211563586.	NM_053025.4(MYLK):c.4493A>G (p.Tyr1498Cys) GRCh37: Chr3:123366197 GRCh38: Chr3:123647350	MYLK	Y1322C, Y1429C, Y1498C	Aortic aneurysm, familial thoracic 7	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 211291187.	NM_053025.4(MYLK):c.3565+13C>G GRCh37: Chr3:123411569 GRCh38: Chr3:123692722	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 211219488.	NM_053025.4(MYLK):c.1854C>G (p.Ser618Arg) GRCh37: Chr3:123428691 GRCh38: Chr3:123709844	MYLK	S618R, S442R, S549R	Aortic aneurysm, familial thoracic 7	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 211021389.	NM_053025.4(MYLK):c.4652T>C (p.Ile1551Thr) GRCh37: Chr3:123359319 GRCh38: Chr3:123640472	MYLK	I1375T, I1482T, I1551T	Aortic aneurysm, familial thoracic 7	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210600990.	NM_053025.4(MYLK):c.1939T>C (p.Ser647Pro) GRCh37: Chr3:123428606 GRCh38: Chr3:123709759	MYLK	S471P, S578P, S647P	Aortic aneurysm, familial thoracic 7	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210523991.	NM_053025.4(MYLK):c.1632G>A (p.Arg544=) GRCh37: Chr3:123444810 GRCh38: Chr3:123725963	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210233792.	NM_053025.4(MYLK):c.2140+17C>T GRCh37: Chr3:123427528 GRCh38: Chr3:123708681	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210043293.	NM_053025.4(MYLK):c.822G>T (p.Glu274Asp) GRCh37: Chr3:123453021 GRCh38: Chr3:123734174	MYLK	E274D, E98D	Aortic aneurysm, familial thoracic 7	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209864494.	NM_053025.4(MYLK):c.3927A>G (p.Thr1309=) GRCh37: Chr3:123383010 GRCh38: Chr3:123664163	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209843195.	NM_053025.4(MYLK):c.4514A>G (p.Asn1505Ser) GRCh37: Chr3:123366176 GRCh38: Chr3:123647329	MYLK	N1436S, N1329S, N1505S	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 209534896.	NM_053025.4(MYLK):c.5238+13T>A GRCh37: Chr3:123345652 GRCh38: Chr3:123626805	MYLK, MYLK-AS1		Aortic aneurysm, familial thoracic 7	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 209243297.	NM_053025.4(MYLK):c.4962-13C>T GRCh37: Chr3:123348486 GRCh38: Chr3:123629639	LOC126806791, MYLK, MYLK-AS1		Aortic aneurysm, familial thoracic 7	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 208998398.	NM_053025.4(MYLK):c.1456A>T (p.Ser486Cys) GRCh37: Chr3:123451803 GRCh38: Chr3:123732956	MYLK	S486C, S310C	Aortic aneurysm, familial thoracic 7	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208455899.	NM_053025.4(MYLK):c.1651+8C>A GRCh37: Chr3:123444783 GRCh38: Chr3:123725936	MYLK		Aortic aneurysm, familial thoracic 7	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 2084329100.	NM_053025.4(MYLK):c.4343A>G (p.Asp1448Gly) GRCh37: Chr3:123367890 GRCh38: Chr3:123649043	MYLK	D1379G, D1272G, D1448G	Aortic aneurysm, familial thoracic 7	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter

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