59[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 597031.	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 GRCh37: Chr10:86194737-90910559 GRCh38: Chr10:84434981-89150802	ACTA2, ACTA2-AS1, ADIRF, ADIRF-AS1, AGAP11, ANKRD22, ATAD1, BMPR1A, CCSER2, FAM245A, FAM25A, FAS, FAS-AS1, GLUD1, GRID1, GRID1-AS1, KLLN, LDB3, LINC00863, LINC01519, LINC01520, LINC02647, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOC110121486, LOC111982877, LOC111982878, LOC116216117, LOC121366069, LOC121366070, LOC121366071, LOC121815954, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC124416863, LOC124416864, LOC126860987, LOC126860988, LOC126860989, LOC126860990, LOC126860991, LOC126860992, LOC126860993, MINPP1, MIR346, MIR4678, MIR4679-1, MIR4679-2, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, OPN4, PAPSS2, PTEN, RNLS, SHLD2, SNCG, STAMBPL1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 570942.	GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3 GRCh37: Chr10:90198865-90738588 GRCh38: Chr10:88439108-88978831	ACTA2, ACTA2-AS1, ANKRD22, FAS, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC126860992, LOC126860993, RNLS, STAMBPL1		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 11982773.	NR_125373.1(ACTA2-AS1):n.637C>T GRCh37: Chr10:90694769 GRCh38: Chr10:88935012	ACTA2, ACTA2-AS1		not provided	Likely benign (Jul 8, 2018)	criteria provided, single submitter
Select item 12781334.	NR_125373.1(ACTA2-AS1):n.661G>T GRCh37: Chr10:90694793 GRCh38: Chr10:88935036	ACTA2, ACTA2-AS1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 3689295.	NR_125373.1(ACTA2-AS1):n.690C>T GRCh37: Chr10:90694822 GRCh38: Chr10:88935065	ACTA2, ACTA2-AS1		Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 3015036.	NM_001613.4(ACTA2):c.*122T>C GRCh37: Chr10:90694858 GRCh38: Chr10:88935101	ACTA2, ACTA2-AS1		Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3015047.	NM_001613.4(ACTA2):c.*105G>T GRCh37: Chr10:90694875 GRCh38: Chr10:88935118	ACTA2, ACTA2-AS1		Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 8778318.	NM_001613.4(ACTA2):c.*104C>G GRCh37: Chr10:90694876 GRCh38: Chr10:88935119	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3015059.	NM_001613.4(ACTA2):c.*43A>G GRCh37: Chr10:90694937 GRCh38: Chr10:88935180	ACTA2, ACTA2-AS1		Multisystemic smooth muscle dysfunction syndrome, Aortic aneurysm, familial thoracic 6	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 92707310.	NM_001613.4(ACTA2):c.6_38del GRCh37: Chr10:90694942-90694974 GRCh38: Chr10:88935185-88935217	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 23, 2019)	criteria provided, single submitter
Select item 30150611.	NM_001613.4(ACTA2):c.*28A>T GRCh37: Chr10:90694952 GRCh38: Chr10:88935195	ACTA2, ACTA2-AS1		Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 117105112.	NM_001613.4(ACTA2):c.*5C>T GRCh37: Chr10:90694975 GRCh38: Chr10:88935218	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 13, 2020)	criteria provided, single submitter
Select item 92342913.	NM_001613.4(ACTA2):c.1133A>G (p.Ter378=) GRCh37: Chr10:90694981 GRCh38: Chr10:88935224	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Apr 1, 2019)	criteria provided, single submitter
Select item 23903514.	NM_001613.4(ACTA2):c.1132T>C (p.Ter378Gln) GRCh37: Chr10:90694982 GRCh38: Chr10:88935225	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92206215.	NM_001613.4(ACTA2):c.1131C>T (p.Phe377=) GRCh37: Chr10:90694983 GRCh38: Chr10:88935226	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, not provided	Likely benign (Dec 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 85440916.	NM_001613.4(ACTA2):c.1126del (p.Cys376fs) GRCh37: Chr10:90694988 GRCh38: Chr10:88935231	ACTA2, ACTA2-AS1	C376fs	Aortic aneurysm, familial thoracic 6	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 131080817.	NM_001613.4(ACTA2):c.1121G>A (p.Arg374His) GRCh37: Chr10:90694993 GRCh38: Chr10:88935236	ACTA2, ACTA2-AS1	R374H, R310H, R331H, R337H	not provided	Uncertain significance (Mar 11, 2021)	criteria provided, single submitter
Select item 92180218.	NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys) GRCh37: Chr10:90694994 GRCh38: Chr10:88935237	ACTA2, ACTA2-AS1	R374C, R310C, R331C, R337C	not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93553819.	NM_001613.4(ACTA2):c.1112T>A (p.Ile371Asn) GRCh37: Chr10:90695002 GRCh38: Chr10:88935245	ACTA2-AS1, ACTA2	I371N, I307N, I328N, I334N	Aortic aneurysm, familial thoracic 6, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80654420.	NM_001613.4(ACTA2):c.1112T>C (p.Ile371Thr) GRCh37: Chr10:90695002 GRCh38: Chr10:88935245	ACTA2, ACTA2-AS1	I371T, I328T, I307T, I334T	Aortic aneurysm, familial thoracic 6, not provided	Uncertain significance (Oct 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91869421.	NM_001613.4(ACTA2):c.1109C>G (p.Ser370Cys) GRCh37: Chr10:90695005 GRCh38: Chr10:88935248	ACTA2, ACTA2-AS1	S370C, S306C, S327C, S333C	not provided, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84112122.	NM_001613.4(ACTA2):c.1102G>A (p.Gly368Arg) GRCh37: Chr10:90695012 GRCh38: Chr10:88935255	ACTA2, ACTA2-AS1	G368R, G304R, G325R, G331R	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 92319123.	NM_001613.4(ACTA2):c.1100C>T (p.Ala367Val) GRCh37: Chr10:90695014 GRCh38: Chr10:88935257	ACTA2, ACTA2-AS1	A367V, A330V, A303V, A324V	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 92257224.	NM_001613.4(ACTA2):c.1092C>T (p.Tyr364=) GRCh37: Chr10:90695022 GRCh38: Chr10:88935265	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Likely benign (Jan 9, 2020)	criteria provided, multiple submitters, no conflicts
Select item 62960725.	NM_001613.4(ACTA2):c.1089A>G (p.Glu363=) GRCh37: Chr10:90695025 GRCh38: Chr10:88935268	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 17, 2018)	criteria provided, single submitter
Select item 51957826.	NM_001613.4(ACTA2):c.1087G>C (p.Glu363Gln) GRCh37: Chr10:90695027 GRCh38: Chr10:88935270	ACTA2, ACTA2-AS1	E363Q, E320Q, E299Q, E326Q	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Dec 4, 2020)	criteria provided, multiple submitters, no conflicts
Select item 149196727.	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 170098328.	NM_001613.4(ACTA2):c.1076T>G (p.Ile359Ser) GRCh37: Chr10:90695038 GRCh38: Chr10:88935281	ACTA2, ACTA2-AS1	I359S, I316S, I295S, I322S	not provided	Likely pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 212952629.	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 199698330.	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 85880431.	NM_001613.4(ACTA2):c.1066C>T (p.Gln356Ter) GRCh37: Chr10:90695048 GRCh38: Chr10:88935291	ACTA2, ACTA2-AS1	Q356, Q313, Q319, Q292	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 177913932.	NM_001613.4(ACTA2):c.1058C>A (p.Thr353Asn) GRCh37: Chr10:90695056 GRCh38: Chr10:88935299	ACTA2, ACTA2-AS1	T310N, T316N, T289N, T353N	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 75109433.	NM_001613.4(ACTA2):c.1053G>T (p.Leu351=) GRCh37: Chr10:90695061 GRCh38: Chr10:88935304	ACTA2-AS1, ACTA2		not provided	Likely benign (Sep 11, 2018)	criteria provided, single submitter
Select item 92031634.	NM_001613.4(ACTA2):c.1051_1052del (p.Leu351fs) GRCh37: Chr10:90695062-90695063 GRCh38: Chr10:88935305-88935306	ACTA2, ACTA2-AS1	L351fs	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 15, 2019)	criteria provided, single submitter
Select item 46908235.	NM_001613.4(ACTA2):c.1047C>T (p.Ala349=) GRCh37: Chr10:90695067 GRCh38: Chr10:88935310	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74262636.	NM_001613.4(ACTA2):c.1041C>T (p.Ile347=) GRCh37: Chr10:90695073 GRCh38: Chr10:88935316	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6	Likely benign (Jul 19, 2018)	criteria provided, single submitter
Select item 63647937.	NM_001613.4(ACTA2):c.1030G>A (p.Gly344Ser) GRCh37: Chr10:90695084 GRCh38: Chr10:88935327	ACTA2, ACTA2-AS1	G344S, G301S, G280S, G307S	not provided	Uncertain significance (Sep 2, 2017)	criteria provided, single submitter
Select item 19967938.	NM_001613.4(ACTA2):c.1026G>A (p.Trp342Ter) GRCh37: Chr10:90695088 GRCh38: Chr10:88935331	ACTA2, ACTA2-AS1	W342, W278, W305, W299	not provided	Uncertain significance (Nov 6, 2013)	criteria provided, single submitter
Select item 92388039.	NM_001613.4(ACTA2):c.1023C>T (p.Val341=) GRCh37: Chr10:90695091 GRCh38: Chr10:88935334	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 19, 2019)	criteria provided, single submitter
Select item 213273540.	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 19968241.	NM_001613.4(ACTA2):c.1019_1020del (p.Ser340fs) GRCh37: Chr10:90695094-90695095 GRCh38: Chr10:88935337-88935338	ACTA2, ACTA2-AS1	S340fs	Multisystemic smooth muscle dysfunction syndrome, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Uncertain significance (Nov 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69767242.	NM_001613.4(ACTA2):c.1017C>T (p.Tyr339=) GRCh37: Chr10:90695097 GRCh38: Chr10:88935340	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 117139743.	NM_001613.4(ACTA2):c.1013A>G (p.Lys338Arg) GRCh37: Chr10:90695101 GRCh38: Chr10:88935344	ACTA2, ACTA2-AS1	K338R, K295R, K274R, K301R	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 12, 2020)	criteria provided, single submitter
Select item 117238444.	NM_001613.4(ACTA2):c.1009C>T (p.Arg337Cys) GRCh37: Chr10:90695105 GRCh38: Chr10:88935348	ACTA2, ACTA2-AS1	R337C, R273C, R294C, R300C	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 28, 2020)	criteria provided, multiple submitters, no conflicts
Select item 51958245.	NM_001613.4(ACTA2):c.1007A>G (p.Glu336Gly) GRCh37: Chr10:90695107 GRCh38: Chr10:88935350	ACTA2, ACTA2-AS1	E336G, E293G, E299G, E272G	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 5, 2017)	criteria provided, single submitter
Select item 57263246.	NM_001613.4(ACTA2):c.1006G>C (p.Glu336Gln) GRCh37: Chr10:90695108 GRCh38: Chr10:88935351	ACTA2, ACTA2-AS1	E336Q, E293Q, E299Q, E272Q	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 131323647.	NM_001613.4(ACTA2):c.1005G>A (p.Pro335=) GRCh37: Chr10:90695109 GRCh38: Chr10:88935352	ACTA2, ACTA2-AS1		not provided	Uncertain significance (Jan 22, 2020)	criteria provided, single submitter
Select item 37414848.	NM_001613.4(ACTA2):c.1003C>G (p.Pro335Ala) GRCh37: Chr10:90695111 GRCh38: Chr10:88935354	ACTA2, ACTA2-AS1	P335A, P292A, P271A, P298A	not provided, Aneurysm of descending aorta, Arterial tortuosity	Uncertain significance (Dec 17, 2015)	criteria provided, multiple submitters, no conflicts
Select item 51958149.	NM_001613.4(ACTA2):c.995T>C (p.Ile332Thr) GRCh37: Chr10:90695119 GRCh38: Chr10:88935362	ACTA2, ACTA2-AS1	I332T, I295T, I268T, I289T	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 13, 2017)	criteria provided, single submitter
Select item 195642750.	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 63653351.	NM_001613.4(ACTA2):c.991-1del GRCh37: Chr10:90695124 GRCh38: Chr10:88935367	ACTA2, ACTA2-AS1		not provided	Likely pathogenic (Nov 22, 2017)	criteria provided, single submitter
Select item 19967852.	NM_001613.4(ACTA2):c.991-1G>C GRCh37: Chr10:90695124 GRCh38: Chr10:88935367	ACTA2, ACTA2-AS1		not provided	Likely pathogenic (Nov 25, 2015)	criteria provided, single submitter
Select item 117115553.	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 38284654.	NM_001613.4(ACTA2):c.991-6T>C GRCh37: Chr10:90695129 GRCh38: Chr10:88935372	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6, not specified	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98444755.	NM_001613.4(ACTA2):c.991-7C>T GRCh37: Chr10:90695130 GRCh38: Chr10:88935373	ACTA2, ACTA2-AS1		not specified	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 112960256.	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 203732557.	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 206628958.	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 67457659.	NM_001613.4(ACTA2):c.991-120C>T GRCh37: Chr10:90695243 GRCh38: Chr10:88935486	ACTA2, ACTA2-AS1		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 122905960.	NM_001613.4(ACTA2):c.991-142C>A GRCh37: Chr10:90695265 GRCh38: Chr10:88935508	ACTA2, ACTA2-AS1		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 68051861.	NM_001613.4(ACTA2):c.991-288A>G GRCh37: Chr10:90695411 GRCh38: Chr10:88935654	ACTA2-AS1, ACTA2		not provided	Benign (Jun 14, 2018)	criteria provided, single submitter
Select item 119287162.	NM_001613.4(ACTA2):c.990+251A>G GRCh37: Chr10:90697567 GRCh38: Chr10:88937810	ACTA2-AS1, ACTA2		not provided	Likely benign (Jul 17, 2018)	criteria provided, single submitter
Select item 125075463.	NM_001613.4(ACTA2):c.990+123A>G GRCh37: Chr10:90697695 GRCh38: Chr10:88937938	ACTA2, ACTA2-AS1		not provided	Benign (Jun 26, 2018)	criteria provided, single submitter
Select item 220031764.	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 26343065.	NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) GRCh37: Chr10:90697831 GRCh38: Chr10:88938074	ACTA2, ACTA2-AS1	T326N, T289N, T262N, T283N	Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5, Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6, not provided, not specified	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134901566.	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 91818567.	NM_001613.4(ACTA2):c.964C>T (p.Leu322=) GRCh37: Chr10:90697844 GRCh38: Chr10:88938087	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 16, 2018)	criteria provided, single submitter
Select item 133084568.	NM_001613.4(ACTA2):c.963C>T (p.Ala321=) GRCh37: Chr10:90697845 GRCh38: Chr10:88938088	ACTA2, ACTA2-AS1		not provided	Likely benign (Jul 23, 2021)	criteria provided, single submitter
Select item 215100869.	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 53692170.	NM_001613.4(ACTA2):c.960G>A (p.Thr320=) GRCh37: Chr10:90697848 GRCh38: Chr10:88938091	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 6	Likely benign (Oct 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 62774471.	NM_001613.4(ACTA2):c.959C>T (p.Thr320Met) GRCh37: Chr10:90697849 GRCh38: Chr10:88938092	ACTA2, ACTA2-AS1	T320M, T256M, T277M, T283M	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Feb 19, 2021)	criteria provided, single submitter
Select item 38320972.	NM_001613.4(ACTA2):c.958A>C (p.Thr320Pro) GRCh37: Chr10:90697850 GRCh38: Chr10:88938093	ACTA2, ACTA2-AS1	T320P, T256P, T277P, T283P	not provided	Uncertain significance (Mar 2, 2017)	criteria provided, single submitter
Select item 176743973.	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 57399474.	NM_001613.4(ACTA2):c.954G>C (p.Glu318Asp) GRCh37: Chr10:90697854 GRCh38: Chr10:88938097	ACTA2, ACTA2-AS1	E318D, E254D, E281D, E275D	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 59182375.	NM_001613.4(ACTA2):c.953A>G (p.Glu318Gly) GRCh37: Chr10:90697855 GRCh38: Chr10:88938098	ACTA2, ACTA2-AS1	E318G, E281G, E254G, E275G	not provided	Uncertain significance (Sep 16, 2018)	no assertion criteria provided
Select item 205977776.	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 92184577.	NM_001613.4(ACTA2):c.947A>T (p.Gln316Leu) GRCh37: Chr10:90697861 GRCh38: Chr10:88938104	ACTA2, ACTA2-AS1	Q316L, Q252L, Q273L, Q279L	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Dec 4, 2020)	criteria provided, single submitter
Select item 57789178.	NM_001613.4(ACTA2):c.941G>A (p.Arg314Gln) GRCh37: Chr10:90697867 GRCh38: Chr10:88938110	ACTA2, ACTA2-AS1	R314Q, R250Q, R271Q, R277Q	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 26392679.	NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter) GRCh37: Chr10:90697868 GRCh38: Chr10:88938111	ACTA2, ACTA2-AS1	R314, R277, R271, R250	Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 6	Conflicting interpretations of pathogenicity (Sep 1, 2021)	criteria provided, conflicting interpretations
Select item 80261680.	NM_001613.4(ACTA2):c.937G>A (p.Asp313Asn) GRCh37: Chr10:90697871 GRCh38: Chr10:88938114	ACTA2, ACTA2-AS1	D313N, D249N, D270N, D276N	Aortic aneurysm, familial thoracic 6	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 26386381.	NM_001613.4(ACTA2):c.936C>T (p.Ala312=) GRCh37: Chr10:90697872 GRCh38: Chr10:88938115	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6, not provided, Multisystemic smooth muscle dysfunction syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 153002582.	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 211177683.	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 116332984.	NM_001613.4(ACTA2):c.920T>C (p.Met307Thr) GRCh37: Chr10:90697888 GRCh38: Chr10:88938131	ACTA2, ACTA2-AS1	M307T, M243T, M270T, M264T	not provided	Uncertain significance (Sep 10, 2019)	criteria provided, single submitter
Select item 42346885.	NM_001613.4(ACTA2):c.916A>G (p.Thr306Ala) GRCh37: Chr10:90697892 GRCh38: Chr10:88938135	ACTA2, ACTA2-AS1	T306A, T242A, T263A, T269A	Aortic aneurysm, familial thoracic 6, not provided	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92355886.	NM_001613.4(ACTA2):c.911G>A (p.Gly304Asp) GRCh37: Chr10:90697897 GRCh38: Chr10:88938140	ACTA2, ACTA2-AS1	G304D, G261D, G240D, G267D	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 8, 2019)	criteria provided, single submitter
Select item 62832087.	NM_001613.4(ACTA2):c.906del (p.Gly304fs) GRCh37: Chr10:90697902 GRCh38: Chr10:88938145	ACTA2-AS1, ACTA2	G304fs	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 9, 2019)	criteria provided, single submitter
Select item 41281488.	NM_001613.4(ACTA2):c.903A>G (p.Leu301=) GRCh37: Chr10:90697905 GRCh38: Chr10:88938148	ACTA2, ACTA2-AS1		Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166815589.	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 64976590.	NM_001613.4(ACTA2):c.898G>A (p.Val300Ile) GRCh37: Chr10:90697910 GRCh38: Chr10:88938153	ACTA2, ACTA2-AS1	V300I, V236I, V263I, V257I	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 202622091.	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 26384392.	NM_001613.4(ACTA2):c.896A>G (p.Asn299Ser) GRCh37: Chr10:90697912 GRCh38: Chr10:88938155	ACTA2, ACTA2-AS1	N299S, N256S, N235S, N262S	Aortic aneurysm, familial thoracic 6, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241525393.	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 117797794.	NM_001613.4(ACTA2):c.882C>T (p.Asp294=) GRCh37: Chr10:90697926 GRCh38: Chr10:88938169	ACTA2, ACTA2-AS1		not provided	Likely benign (Nov 2, 2018)	criteria provided, single submitter
Select item 92713095.	NM_001613.4(ACTA2):c.873C>G (p.Ile291Met) GRCh37: Chr10:90697935 GRCh38: Chr10:88938178	ACTA2-AS1, ACTA2	I291M, I248M, I227M, I254M	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 13, 2018)	criteria provided, single submitter
Select item 138030196.	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 53691697.	NM_001613.4(ACTA2):c.866T>A (p.Ile289Asn) GRCh37: Chr10:90697942 GRCh38: Chr10:88938185	ACTA2, ACTA2-AS1	I289N, I225N, I252N, I246N	Aortic aneurysm, familial thoracic 6	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 117243798.	NM_001613.4(ACTA2):c.864T>C (p.Asp288=) GRCh37: Chr10:90697944 GRCh38: Chr10:88938187	ACTA2, ACTA2-AS1		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 23, 2020)	criteria provided, single submitter
Select item 198358099.	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 199677100.	NM_001613.4(ACTA2):c.855G>T (p.Met285Ile) GRCh37: Chr10:90697953 GRCh38: Chr10:88938196	ACTA2, ACTA2-AS1	M285I, M221I, M242I, M248I	not provided	Uncertain significance (Apr 1, 2014)	criteria provided, single submitter

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