ClinVar for MedGen (Select 435866) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24416521.	NM_001613.4(ACTA2):c.259-1G>C GRCh37: Chr10:90703665 GRCh38: Chr10:88943908	ACTA2		Aortic aneurysm, familial thoracic 6	Likely pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 24242082.	NC_000010.10:g.(?_90697798)_(90767614_?)dup GRCh37: Chr10:90697798-90767614	ACTA2, FAS, FAS-AS1		Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 24199803.	NM_001613.4(ACTA2):c.305A>C (p.Glu102Ala) GRCh37: Chr10:90703618 GRCh38: Chr10:88943861	ACTA2	E102A, E59A	Aortic aneurysm, familial thoracic 6	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 24152534.	NM_001613.4(ACTA2):c.888T>C (p.Tyr296=) GRCh37: Chr10:90697920 GRCh38: Chr10:88938163	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 22004935.	NM_001613.4(ACTA2):c.259-11C>A GRCh37: Chr10:90703675 GRCh38: Chr10:88943918	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 22003176.	NM_001613.4(ACTA2):c.978C>T (p.Thr326=) GRCh37: Chr10:90697830 GRCh38: Chr10:88938073	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 21988177.	NM_001613.4(ACTA2):c.132G>T (p.Gly44=) GRCh37: Chr10:90707141 GRCh38: Chr10:88947384	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 21962488.	NM_001613.4(ACTA2):c.454+14C>T GRCh37: Chr10:90701528 GRCh38: Chr10:88941771	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 21960209.	NM_001613.4(ACTA2):c.678A>C (p.Glu226Asp) GRCh37: Chr10:90699394 GRCh38: Chr10:88939637	ACTA2, ACTA2-AS1	E183D, E226D, E189D	Aortic aneurysm, familial thoracic 6	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 219465210.	NM_001613.4(ACTA2):c.808+13C>T GRCh37: Chr10:90699251 GRCh38: Chr10:88939494	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 219302211.	NM_001613.4(ACTA2):c.130-9C>A GRCh37: Chr10:90707152 GRCh38: Chr10:88947395	ACTA2		Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 217377312.	NM_001613.4(ACTA2):c.616+10G>A GRCh37: Chr10:90700976 GRCh38: Chr10:88941219	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 216603913.	NM_001613.4(ACTA2):c.748A>G (p.Ile250Val) GRCh37: Chr10:90699324 GRCh38: Chr10:88939567	ACTA2, ACTA2-AS1	I250V, I207V, I213V	Aortic aneurysm, familial thoracic 6	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 216385014.	NM_001613.4(ACTA2):c.339C>T (p.Asn113=) GRCh37: Chr10:90703584 GRCh38: Chr10:88943827	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 215305015.	NM_001613.4(ACTA2):c.617-12T>C GRCh37: Chr10:90699467 GRCh38: Chr10:88939710	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 215147216.	NM_001613.4(ACTA2):c.3G>A (p.Met1Ile) GRCh37: Chr10:90708685 GRCh38: Chr10:88948928	ACTA2	M1I	Aortic aneurysm, familial thoracic 6	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 215100817.	NM_001613.4(ACTA2):c.962C>G (p.Ala321Gly) GRCh37: Chr10:90697846 GRCh38: Chr10:88938089	ACTA2, ACTA2-AS1	A321G, A257G, A278G, A284G	not provided, Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214688118.	NM_001613.4(ACTA2):c.510C>T (p.Gly170=) GRCh37: Chr10:90701092 GRCh38: Chr10:88941335	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 214119019.	NM_001613.4(ACTA2):c.583C>T (p.Leu195=) GRCh37: Chr10:90701019 GRCh38: Chr10:88941262	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 213273520.	NM_001613.4(ACTA2):c.1020dup (p.Val341fs) GRCh37: Chr10:90695093-90695094 GRCh38: Chr10:88935336-88935337	ACTA2, ACTA2-AS1	V341fs	Aortic aneurysm, familial thoracic 6	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212990221.	NM_001613.4(ACTA2):c.337A>G (p.Asn113Asp) GRCh37: Chr10:90703586 GRCh38: Chr10:88943829	ACTA2	N113D, N70D	Aortic aneurysm, familial thoracic 6	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212952622.	NM_001613.4(ACTA2):c.1072T>C (p.Trp358Arg) GRCh37: Chr10:90695042 GRCh38: Chr10:88935285	ACTA2, ACTA2-AS1	W294R, W358R, W315R, W321R	Aortic aneurysm, familial thoracic 6	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 212685523.	NM_001613.4(ACTA2):c.465G>A (p.Leu155=) GRCh37: Chr10:90701137 GRCh38: Chr10:88941380	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 212433924.	NM_001613.4(ACTA2):c.370-11T>C GRCh37: Chr10:90701637 GRCh38: Chr10:88941880	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 211177625.	NM_001613.4(ACTA2):c.929G>A (p.Gly310Asp) GRCh37: Chr10:90697879 GRCh38: Chr10:88938122	ACTA2, ACTA2-AS1	G267D, G310D, G246D, G273D	Aortic aneurysm, familial thoracic 6	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211045826.	NM_001613.4(ACTA2):c.782A>G (p.Glu261Gly) GRCh37: Chr10:90699290 GRCh38: Chr10:88939533	ACTA2, ACTA2-AS1	E224G, E218G, E261G	Aortic aneurysm, familial thoracic 6	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 208626727.	NM_001613.4(ACTA2):c.808+9C>A GRCh37: Chr10:90699255 GRCh38: Chr10:88939498	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 207166528.	NM_001613.4(ACTA2):c.280A>G (p.Asn94Asp) GRCh37: Chr10:90703643 GRCh38: Chr10:88943886	ACTA2	N51D, N94D	Aortic aneurysm, familial thoracic 6	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 206628929.	NM_001613.4(ACTA2):c.991-16T>C GRCh37: Chr10:90695139 GRCh38: Chr10:88935382	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 206470230.	NM_001613.4(ACTA2):c.454+15G>A GRCh37: Chr10:90701527 GRCh38: Chr10:88941770	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 205977731.	NM_001613.4(ACTA2):c.951G>A (p.Lys317=) GRCh37: Chr10:90697857 GRCh38: Chr10:88938100	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Likely benign (Nov 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204105132.	NM_001613.4(ACTA2):c.757G>A (p.Gly253Arg) GRCh37: Chr10:90699315 GRCh38: Chr10:88939558	ACTA2, ACTA2-AS1	G210R, G216R, G253R	Aortic aneurysm, familial thoracic 6	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 203732533.	NM_001613.4(ACTA2):c.991-11T>C GRCh37: Chr10:90695134 GRCh38: Chr10:88935377	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 203657234.	NM_001613.4(ACTA2):c.733C>G (p.Pro245Ala) GRCh37: Chr10:90699339 GRCh38: Chr10:88939582	ACTA2, ACTA2-AS1	P208A, P202A, P245A	Aortic aneurysm, familial thoracic 6	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 203221835.	NM_001613.4(ACTA2):c.369+1G>C GRCh37: Chr10:90703553 GRCh38: Chr10:88943796	ACTA2		Aortic aneurysm, familial thoracic 6	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 202622036.	NM_001613.4(ACTA2):c.897T>C (p.Asn299=) GRCh37: Chr10:90697911 GRCh38: Chr10:88938154	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202526937.	NM_001613.4(ACTA2):c.137TGG[1] (p.Val47del) GRCh37: Chr10:90707131-90707133 GRCh38: Chr10:88947374-88947376	ACTA2	V47del	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 200808638.	NM_001613.4(ACTA2):c.412A>G (p.Ile138Val) GRCh37: Chr10:90701584 GRCh38: Chr10:88941827	ACTA2	I138V, I101V, I95V	Aortic aneurysm, familial thoracic 6	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 200440739.	NM_001613.4(ACTA2):c.749T>C (p.Ile250Thr) GRCh37: Chr10:90699323 GRCh38: Chr10:88939566	ACTA2, ACTA2-AS1	I207T, I213T, I250T	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 199761840.	NM_001613.4(ACTA2):c.370-4G>A GRCh37: Chr10:90701630 GRCh38: Chr10:88941873	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199698341.	NM_001613.4(ACTA2):c.1067A>G (p.Gln356Arg) GRCh37: Chr10:90695047 GRCh38: Chr10:88935290	ACTA2, ACTA2-AS1	Q313R, Q319R, Q356R, Q292R	Aortic aneurysm, familial thoracic 6	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 199653742.	NM_001613.4(ACTA2):c.284A>G (p.Glu95Gly) GRCh37: Chr10:90703639 GRCh38: Chr10:88943882	ACTA2	E95G, E52G	Aortic aneurysm, familial thoracic 6	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 198897843.	NM_001613.4(ACTA2):c.563C>T (p.Thr188Ile) GRCh37: Chr10:90701039 GRCh38: Chr10:88941282	ACTA2	T145I, T151I, T188I	Aortic aneurysm, familial thoracic 6	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 198671344.	NM_001613.4(ACTA2):c.162C>T (p.Ser54=) GRCh37: Chr10:90707111 GRCh38: Chr10:88947354	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 198358045.	NM_001613.4(ACTA2):c.860G>A (p.Cys287Tyr) GRCh37: Chr10:90697948 GRCh38: Chr10:88938191	ACTA2, ACTA2-AS1	C223Y, C287Y, C244Y, C250Y	Aortic aneurysm, familial thoracic 6	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 197421646.	NM_001613.4(ACTA2):c.747G>A (p.Val249=) GRCh37: Chr10:90699325 GRCh38: Chr10:88939568	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 195642747.	NM_001613.4(ACTA2):c.994A>G (p.Ile332Val) GRCh37: Chr10:90695120 GRCh38: Chr10:88935363	ACTA2, ACTA2-AS1	I268V, I295V, I332V, I289V	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 195264148.	NM_001613.4(ACTA2):c.522C>T (p.Pro174=) GRCh37: Chr10:90701080 GRCh38: Chr10:88941323	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 195222049.	NM_001613.4(ACTA2):c.651A>G (p.Lys217=) GRCh37: Chr10:90699421 GRCh38: Chr10:88939664	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 189662950.	NM_001613.4(ACTA2):c.258+4T>C GRCh37: Chr10:90707011 GRCh38: Chr10:88947254	ACTA2		Aortic aneurysm, familial thoracic 6	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 176743951.	NM_001613.4(ACTA2):c.957C>T (p.Ile319=) GRCh37: Chr10:90697851 GRCh38: Chr10:88938094	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174245752.	NM_001613.4(ACTA2):c.468C>T (p.Asp156=) GRCh37: Chr10:90701134 GRCh38: Chr10:88941377	ACTA2		Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 172184553.	NM_001613.4(ACTA2):c.379G>C (p.Glu127Gln) GRCh37: Chr10:90701617 GRCh38: Chr10:88941860	ACTA2	E127Q, E84Q, E90Q	Aortic aneurysm, familial thoracic 6	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 171421054.	NM_001613.4(ACTA2):c.493G>A (p.Val165Ile) GRCh37: Chr10:90701109 GRCh38: Chr10:88941352	ACTA2	V122I, V128I, V165I	Aortic aneurysm, familial thoracic 6	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 170986455.	NM_001613.4(ACTA2):c.406G>A (p.Val136Met) GRCh37: Chr10:90701590 GRCh38: Chr10:88941833	ACTA2	V136M, V93M, V99M	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 167656956.	NM_001613.4(ACTA2):c.325del (p.Glu109fs) GRCh37: Chr10:90703598 GRCh38: Chr10:88943841	ACTA2	E109fs	Aortic aneurysm, familial thoracic 6	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 166815557.	NM_001613.4(ACTA2):c.900C>T (p.Val300=) GRCh37: Chr10:90697908 GRCh38: Chr10:88938151	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 166233258.	NM_001613.4(ACTA2):c.357G>A (p.Glu119=) GRCh37: Chr10:90703566 GRCh38: Chr10:88943809	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 159442359.	NM_001613.4(ACTA2):c.285G>A (p.Glu95=) GRCh37: Chr10:90703638 GRCh38: Chr10:88943881	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Mar 9, 2021)	criteria provided, single submitter
Select item 157111660.	NM_001613.4(ACTA2):c.222A>G (p.Glu74=) GRCh37: Chr10:90707051 GRCh38: Chr10:88947294	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Feb 20, 2021)	criteria provided, single submitter
Select item 156359761.	NM_001613.4(ACTA2):c.129+12T>C GRCh37: Chr10:90708547 GRCh38: Chr10:88948790	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 153666162.	NM_001613.4(ACTA2):c.129+8A>C GRCh37: Chr10:90708551 GRCh38: Chr10:88948794	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 153270763.	NM_001613.4(ACTA2):c.696C>T (p.Ala232=) GRCh37: Chr10:90699376 GRCh38: Chr10:88939619	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Likely benign (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153199164.	NM_001613.4(ACTA2):c.198C>T (p.Ile66=) GRCh37: Chr10:90707075 GRCh38: Chr10:88947318	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 153002565.	NM_001613.4(ACTA2):c.933T>C (p.Ile311=) GRCh37: Chr10:90697875 GRCh38: Chr10:88938118	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Feb 3, 2021)	criteria provided, single submitter
Select item 152370866.	NM_001613.4(ACTA2):c.784A>G (p.Thr262Ala) GRCh37: Chr10:90699288 GRCh38: Chr10:88939531	ACTA2, ACTA2-AS1	T262A, T225A, T219A	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151844067.	NM_001613.4(ACTA2):c.355G>C (p.Glu119Gln) GRCh37: Chr10:90703568 GRCh38: Chr10:88943811	ACTA2	E119Q, E76Q	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 151067868.	NM_001613.4(ACTA2):c.98dup (p.Ser35fs) GRCh37: Chr10:90708589-90708590 GRCh38: Chr10:88948832-88948833	ACTA2	S35fs	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 150305069.	NM_001613.4(ACTA2):c.676G>A (p.Glu226Lys) GRCh37: Chr10:90699396 GRCh38: Chr10:88939639	ACTA2, ACTA2-AS1	E226K, E189K, E183K	Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 149196770.	NM_001613.4(ACTA2):c.1084C>T (p.Gln362Ter) GRCh37: Chr10:90695030 GRCh38: Chr10:88935273	ACTA2, ACTA2-AS1	Q362, Q325, Q319, Q298	Aortic aneurysm, familial thoracic 6	Uncertain significance (Dec 8, 2020)	criteria provided, single submitter
Select item 149195871.	NM_001613.4(ACTA2):c.511T>A (p.Tyr171Asn) GRCh37: Chr10:90701091 GRCh38: Chr10:88941334	ACTA2	Y171N, Y128N, Y134N	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 147076572.	NM_001613.4(ACTA2):c.814G>C (p.Glu272Gln) GRCh37: Chr10:90697994 GRCh38: Chr10:88938237	ACTA2, ACTA2-AS1	E272Q, E208Q, E229Q, E235Q	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146927873.	NM_001613.4(ACTA2):c.262T>C (p.Trp88Arg) GRCh37: Chr10:90703661 GRCh38: Chr10:88943904	ACTA2	W88R, W45R	Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 144763274.	NM_001613.4(ACTA2):c.808+5G>A GRCh37: Chr10:90699259 GRCh38: Chr10:88939502	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 144496875.	NM_001613.4(ACTA2):c.727G>A (p.Glu243Lys) GRCh37: Chr10:90699345 GRCh38: Chr10:88939588	ACTA2, ACTA2-AS1	E243K, E206K, E200K	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 144316776.	NC_000010.10:g.(?_90694970)_(91007415_?)dup GRCh37: Chr10:90694970-91007415	ACTA2, CH25H, FAS, FAS-AS1, LIPA		Aortic aneurysm, familial thoracic 6	Uncertain significance (Feb 14, 2021)	criteria provided, single submitter
Select item 142106977.	NM_001613.4(ACTA2):c.136A>G (p.Met46Val) GRCh37: Chr10:90707137 GRCh38: Chr10:88947380	ACTA2	M46V	Aortic aneurysm, familial thoracic 6	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 139086478.	NM_001613.4(ACTA2):c.632T>A (p.Val211Asp) GRCh37: Chr10:90699440 GRCh38: Chr10:88939683	ACTA2, ACTA2-AS1	V211D, V174D, V168D	Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 138030179.	NM_001613.4(ACTA2):c.868G>A (p.Asp290Asn) GRCh37: Chr10:90697940 GRCh38: Chr10:88938183	ACTA2, ACTA2-AS1	D290N, D253N, D226N, D247N	Aortic aneurysm, familial thoracic 6	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 135289180.	NM_001613.4(ACTA2):c.369+4_369+7del GRCh37: Chr10:90703547-90703550 GRCh38: Chr10:88943790-88943793	ACTA2		Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 134901581.	NM_001613.4(ACTA2):c.970C>T (p.Pro324Ser) GRCh37: Chr10:90697838 GRCh38: Chr10:88938081	ACTA2, ACTA2-AS1	P324S, P260S, P287S, P281S	Aortic aneurysm, familial thoracic 6	Uncertain significance (Nov 2, 2021)	criteria provided, single submitter
Select item 132909982.	NM_001613.4(ACTA2):c.350A>G (p.Asn117Ser) GRCh37: Chr10:90703573 GRCh38: Chr10:88943816	ACTA2	N117S, N74S	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 132839683.	NM_001613.4(ACTA2):c.340_343del (p.Pro114fs) GRCh37: Chr10:90703580-90703583 GRCh38: Chr10:88943823-88943826	ACTA2	P114fs	Aortic aneurysm, familial thoracic 6	Likely pathogenic	no assertion criteria provided
Select item 132839584.	NM_001613.4(ACTA2):c.338A>G (p.Asn113Ser) GRCh37: Chr10:90703585 GRCh38: Chr10:88943828	ACTA2	N113S, N70S	Aortic aneurysm, familial thoracic 6	Uncertain significance	no assertion criteria provided
Select item 117115585.	NM_001613.4(ACTA2):c.991-4A>C GRCh37: Chr10:90695127 GRCh38: Chr10:88935370	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jun 10, 2022)	criteria provided, conflicting interpretations
Select item 117110586.	NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser) GRCh37: Chr10:90708624 GRCh38: Chr10:88948867	ACTA2	G22S	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116199487.	NM_001613.4(ACTA2):c.495C>A (p.Val165=) GRCh37: Chr10:90701107 GRCh38: Chr10:88941350	ACTA2		not specified, Aortic aneurysm, familial thoracic 6	Likely benign (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115016188.	NM_001613.4(ACTA2):c.399C>G (p.Ala133=) GRCh37: Chr10:90701597 GRCh38: Chr10:88941840	ACTA2		not provided, Aortic aneurysm, familial thoracic 6	Conflicting interpretations of pathogenicity (Mar 18, 2022)	criteria provided, conflicting interpretations
Select item 112960289.	NM_001613.4(ACTA2):c.991-8A>G GRCh37: Chr10:90695131 GRCh38: Chr10:88935374	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Aug 22, 2019)	criteria provided, single submitter
Select item 112886790.	NM_001613.4(ACTA2):c.729G>A (p.Glu243=) GRCh37: Chr10:90699343 GRCh38: Chr10:88939586	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Likely benign (Dec 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 111657791.	NM_001613.4(ACTA2):c.204C>T (p.Thr68=) GRCh37: Chr10:90707069 GRCh38: Chr10:88947312	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Jun 19, 2019)	criteria provided, single submitter
Select item 111591292.	NM_001613.4(ACTA2):c.348C>T (p.Ala116=) GRCh37: Chr10:90703575 GRCh38: Chr10:88943818	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (May 7, 2019)	criteria provided, single submitter
Select item 109001793.	NM_001613.4(ACTA2):c.648G>A (p.Glu216=) GRCh37: Chr10:90699424 GRCh38: Chr10:88939667	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, not provided, Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6, Moyamoya disease 5, Aortic aneurysm, familial thoracic 6	Likely benign (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 108211594.	NM_001613.4(ACTA2):c.88A>C (p.Arg30=) GRCh37: Chr10:90708600 GRCh38: Chr10:88948843	ACTA2		Aortic aneurysm, familial thoracic 6	Likely benign (Oct 8, 2020)	criteria provided, single submitter
Select item 106638495.	NM_001613.4(ACTA2):c.115C>A (p.Arg39Ser) GRCh37: Chr10:90708573 GRCh38: Chr10:88948816	ACTA2	R39S	Aortic aneurysm, familial thoracic 6	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 106213196.	NM_001613.4(ACTA2):c.649A>G (p.Lys217Glu) GRCh37: Chr10:90699423 GRCh38: Chr10:88939666	ACTA2, ACTA2-AS1	K217E, K174E, K180E	Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105722897.	NM_001613.4(ACTA2):c.404A>G (p.Tyr135Cys) GRCh37: Chr10:90701592 GRCh38: Chr10:88941835	ACTA2	Y135C, Y98C, Y92C	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 105457198.	NM_001613.4(ACTA2):c.223C>A (p.His75Asn) GRCh37: Chr10:90707050 GRCh38: Chr10:88947293	ACTA2	H75N	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105406799.	NM_001613.4(ACTA2):c.55T>C (p.Cys19Arg) GRCh37: Chr10:90708633 GRCh38: Chr10:88948876	ACTA2	C19R	Aortic aneurysm, familial thoracic 6	Likely pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 1053987100.	NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) GRCh37: Chr10:90703571 GRCh38: Chr10:88943814	ACTA2	R118W, R75W	Aortic aneurysm, familial thoracic 6, not provided, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations

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