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Items: 1 to 100 of 144

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr16:15834017
GRCh38:
Chr16:15740160
MYH11E963G, E970GAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
not provided, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Apr 29, 2022)		criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr16:15811126
GRCh38:
Chr16:15717269
MYH11, NDE1R1792P, R1799PAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
not provided		Uncertain significance
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr16:15811165
GRCh38:
Chr16:15717308
MYH11, NDE1T1779R, T1786RVisceral myopathy 2, Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Feb 22, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr16:15844145
GRCh38:
Chr16:15750288
MYH11Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Likely benign
(Oct 1, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr16:15844102
GRCh38:
Chr16:15750245
MYH11R658C, R651CAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr16:15917217
GRCh38:
Chr16:15823360
MYH11I133VFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Sep 20, 2021)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr16:15812189
GRCh38:
Chr16:15718332
MYH11, NDE1R1760C, R1767CAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Nov 3, 2021)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr16:15841926
GRCh38:
Chr16:15748069
MYH11V720I, V727IFamilial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Sep 29, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr16:15842002
GRCh38:
Chr16:15748145
MYH11Familial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Likely benign
(Sep 26, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr16:15818524
GRCh38:
Chr16:15724667
MYH11, NDE1I1366F, I1373Fnot provided, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr16:15833991
GRCh38:
Chr16:15740134
MYH11E972Q, E979Qnot provided, Inborn genetic diseases, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr16:15818530
GRCh38:
Chr16:15724673
MYH11, NDE1R1364C, R1371CAortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, not provided
Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:15797978-15797979
GRCh38:
Chr16:15704121-15704122
MYH11, NDE1Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, not provided		Uncertain significance
(Oct 16, 2021)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr16:15814860
GRCh38:
Chr16:15721003
MYH11, NDE1E1543K, E1550KAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr16:15931910
GRCh38:
Chr16:15838053
MYH11K67Rnot provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4
Uncertain significance
(May 17, 2023)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:15820839
GRCh38:
Chr16:15726982
MYH11V1242I, V1249IAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Oct 25, 2021)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr16:15841561
GRCh38:
Chr16:15747704
MYH11N759K, N766Knot provided, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Mar 24, 2023)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr16:15808924
GRCh38:
Chr16:15715067
MYH11, NDE1N1876K, N1883KAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr16:15892517
GRCh38:
Chr16:15798660
MYH11T177IAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Oct 20, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:15841932
GRCh38:
Chr16:15748075
MYH11R718W, R725WAortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Jan 5, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr16:15847243
GRCh38:
Chr16:15753386
MYH11not specified, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(May 2, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr16:15812179
GRCh38:
Chr16:15718322
MYH11, NDE1T1770I, T1763IFamilial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 4,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Dec 2, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr16:15826479
GRCh38:
Chr16:15732622
MYH11R1205K, R1198KAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Nov 4, 2021)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr16:15808838
GRCh38:
Chr16:15714981
MYH11, NDE1R1905Q, R1912QAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr16:15809050
GRCh38:
Chr16:15715193
MYH11, NDE1R1869C, R1862CAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Sep 16, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr16:15857661
GRCh38:
Chr16:15763804
MYH11D381G, D374GAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Apr 29, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr16:15872673
GRCh38:
Chr16:15778816
MYH11V259I, V252IAortic aneurysm, familial thoracic 4, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr16:15814758
GRCh38:
Chr16:15720901
MYH11, NDE1E1577K, E1584KAortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Apr 6, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr16:15841786
GRCh38:
Chr16:15747929
MYH11A739E, A732EAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Jul 19, 2021)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr16:15841784
GRCh38:
Chr16:15747927
MYH11A733T, A740TAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Oct 29, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr16:15813123
GRCh38:
Chr16:15719266
MYH11, NDE1E1716K, E1709KAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Oct 26, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr16:15831319
GRCh38:
Chr16:15737462
MYH11A1094T, A1101TFamilial thoracic aortic aneurysm and aortic dissection, not provided, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Dec 18, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr16:15876283
GRCh38:
Chr16:15782426
MYH11G229S, G236SFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Sep 13, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr16:15857735
GRCh38:
Chr16:15763878
MYH11Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr16:15802673
GRCh38:
Chr16:15708816
MYH11, NDE1Q1945*, Q1938*Familial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Sep 16, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr16:15851865
GRCh38:
Chr16:15758008
MYH11Familial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr16:15815430
GRCh38:
Chr16:15721573
MYH11, NDE1A1483G, A1476Gnot provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Apr 17, 2023)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr16:15844060
GRCh38:
Chr16:15750203
MYH11M665V, M672VFamilial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Nov 5, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr16:15820745
GRCh38:
Chr16:15726888
MYH11R1280Q, R1273QFamilial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Jan 23, 2023)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr16:15917223
GRCh38:
Chr16:15823366
MYH11L131Vnot provided, Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr16:15818816
GRCh38:
Chr16:15724959
MYH11, NDE1E1305K, E1298KFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Dec 29, 2021)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr16:15811005
GRCh38:
Chr16:15717148
MYH11, NDE1Q1832H, Q1839HFamilial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Aug 9, 2021)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:15820894
GRCh38:
Chr16:15727037
MYH11D1223E, D1230EFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr16:15880531
GRCh38:
Chr16:15786674
MYH11V197MFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr16:15818025
GRCh38:
Chr16:15724168
MYH11, NDE1F1460S, F1453SAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Oct 6, 2021)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr16:15835394
GRCh38:
Chr16:15741537
MYH11A929S, A936Snot specified, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2
Uncertain significance
(Jul 21, 2023)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr16:15832523
GRCh38:
Chr16:15738666
MYH11R1007K, R1014KAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Visceral myopathy 2		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr16:15835694
GRCh38:
Chr16:15741837
MYH11D866N, D859NFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:15834042
GRCh38:
Chr16:15740185
MYH11L955V, L962VFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2		Uncertain significance
(Aug 30, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr16:15820755
GRCh38:
Chr16:15726898
MYH11D1270N, D1277NAortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2,
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, not provided
Uncertain significance
(Sep 17, 2021)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr16:15829407
GRCh38:
Chr16:15735550
MYH11N1108D, N1115Dnot provided, Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Visceral myopathy 2, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr16:15797898
GRCh38:
Chr16:15704041
MYH11, NDE1E1957Q, E1964QFamilial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 4,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
not specified		Conflicting interpretations of pathogenicity
(Mar 31, 2023)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr16:15802686-15802687
GRCh38:
Chr16:15708829-15708830
MYH11, NDE1Q1934fs, Q1941fsEsophageal and colonic dysmotility, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2
Conflicting interpretations of pathogenicity
(May 28, 2021)		no assertion criteria provided
54.
GRCh37:
Chr16:15813211
GRCh38:
Chr16:15719354
MYH11, NDE1not provided, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Benign
(Sep 5, 2021)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr16:15838940
GRCh38:
Chr16:15745083
MYH11not provided, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Benign
(Sep 5, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr16:15841830
GRCh38:
Chr16:15747973
MYH11not provided, Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Visceral myopathy 2		Benign
(Sep 5, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr16:15835520
GRCh38:
Chr16:15741663
MYH11E887K, E894Knot specified, not provided, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Sep 1, 2023)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr16:15814881
GRCh38:
Chr16:15721024
MYH11, NDE1A1536T, A1543TFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Sep 14, 2021)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:15818256
GRCh38:
Chr16:15724399
NDE1, MYH11S1376L, S1383LFamilial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 4,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:15814126
GRCh38:
Chr16:15720269
MYH11, NDE1R1612H, R1619HFamilial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 4,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Uncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr16:15818272
GRCh38:
Chr16:15724415
MYH11, NDE1Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2		Conflicting interpretations of pathogenicity
(Sep 1, 2022)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr16:15932105
GRCh38:
Chr16:15838248
MYH11A2Vnot provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr16:15931949
GRCh38:
Chr16:15838092
MYH11K54RFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Jul 14, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:15802687
GRCh38:
Chr16:15708830
MYH11, NDE1P1933fs, P1940fsVisceral myopathy 2, not providedConflicting interpretations of pathogenicity
(Sep 5, 2022)		criteria provided, conflicting interpretations
65.
GRCh37:
Chr16:15797924
GRCh38:
Chr16:15704067
NDE1, MYH11I1948T, I1955TFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Mar 30, 2021)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr16:15811060
GRCh38:
Chr16:15717203
MYH11, NDE1S1814F, S1821FFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4, not provided
Uncertain significance
(Oct 25, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr16:15812257
GRCh38:
Chr16:15718400
MYH11, NDE1R1744Q, R1737QFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Dec 24, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr16:15932040
GRCh38:
Chr16:15838183
MYH11P24AAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Visceral myopathy 2, Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Dec 25, 2021)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr16:15842022
GRCh38:
Chr16:15748165
MYH11G695S, G688SStroke, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
not provided		Uncertain significance
(Nov 28, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:15865524
GRCh38:
Chr16:15771667
MYH11N319S, N312SFamilial thoracic aortic aneurysm and aortic dissection, not provided, Aortic aneurysm, familial thoracic 4,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr16:15814061
GRCh38:
Chr16:15720204
MYH11, NDE1D1634N, D1641NConnective tissue disorder, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:15832533
GRCh38:
Chr16:15738676
MYH11L1004V, L1011VConnective tissue disorder, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Dec 5, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr16:15833981
GRCh38:
Chr16:15740124
MYH11T975M, T982MConnective tissue disorder, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Oct 20, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr16:15820842
GRCh38:
Chr16:15726985
MYH11R1248W, R1241WAortic aneurysm, familial thoracic 4, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2
Uncertain significance
(Aug 7, 2023)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr16:15835390
GRCh38:
Chr16:15741533
MYH11R937H, R930HFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:15831372
GRCh38:
Chr16:15737515
MYH11A1083V, A1076VVisceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4,
Aortic aneurysm, familial thoracic 4, not provided, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Apr 1, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:15820851
GRCh38:
Chr16:15726994
MYH11G1245R, G1238RFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr16:15811163
GRCh38:
Chr16:15717306
NDE1, MYH11A1780S, A1787SFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Sep 6, 2021)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:15917127
GRCh38:
Chr16:15823270
MYH11R163WFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, not provided
Uncertain significance
(Jul 17, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:15853517
GRCh38:
Chr16:15759660
MYH11Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Likely benign
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr16:15808868
GRCh38:
Chr16:15715011
MYH11, NDE1R1895H, R1902HAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Familial thoracic aortic aneurysm and aortic dissection		Uncertain significance
(Aug 15, 2021)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr16:15797938
GRCh38:
Chr16:15704081
MYH11, NDE1not specified, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2		Likely benign
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:15797979
GRCh38:
Chr16:15704122
MYH11, NDE1R1930*, R1937*not specified, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr16:15841945
GRCh38:
Chr16:15748088
MYH11Q720H, Q713HAortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Mar 18, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr16:15813156
GRCh38:
Chr16:15719299
MYH11, NDE1A1705T, A1698TFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2		Uncertain significance
(Dec 8, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:15814781
GRCh38:
Chr16:15720924
NDE1, MYH11M1576T, M1569Tnot provided, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Feb 7, 2023)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:15829350
GRCh38:
Chr16:15735493
MYH11L1134V, L1127VFamilial thoracic aortic aneurysm and aortic dissection, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Aortic aneurysm, familial thoracic 4		Uncertain significance
(Mar 16, 2023)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:15853552
GRCh38:
Chr16:15759695
MYH11T435A, T428AAortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Visceral myopathy 2		Uncertain significance
(Jan 29, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr16:15870007
GRCh38:
Chr16:15776150
MYH11R273C, R280Cnot provided, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Dec 15, 2021)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr16:15820719
GRCh38:
Chr16:15726862
MYH11V1282I, V1289Inot provided, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Dec 3, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr16:15841985
GRCh38:
Chr16:15748128
MYH11R700Q, R707Qnot provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Visceral myopathy 2, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr16:15931991
GRCh38:
Chr16:15838134
MYH11S40LAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4, not provided, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Jan 3, 2023)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:15820710
GRCh38:
Chr16:15726853
MYH11L1285V, L1292VFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, not provided, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Aug 1, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr16:15820746
GRCh38:
Chr16:15726889
MYH11R1273W, R1280WInborn genetic diseases, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Feb 10, 2023)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr16:15917196
GRCh38:
Chr16:15823339
MYH11D140NAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
not provided, Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Dec 28, 2021)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr16:15815439
GRCh38:
Chr16:15721582
MYH11, NDE1R1473I, R1480Inot provided, Aortic aneurysm, familial thoracic 4, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr16:15818064
GRCh38:
Chr16:15724207
MYH11, NDE1R1440Q, R1447Q, R322Cnot provided, Aortic aneurysm, familial thoracic 4, Familial thoracic aortic aneurysm and aortic dissection,
Aortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
Uncertain significance
(Feb 19, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr16:15814127
GRCh38:
Chr16:15720270
MYH11, NDE1R1612C, R1619CAortic aneurysm, familial thoracic 4, Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2,
not provided, Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4
Uncertain significance
(Apr 21, 2022)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr16:15811165
GRCh38:
Chr16:15717308
MYH11, NDE1T1786K, T1779Knot specified, Familial thoracic aortic aneurysm and aortic dissection, Visceral myopathy 2,
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Aortic aneurysm, familial thoracic 4, not provided,
Aortic aneurysm, familial thoracic 4		Uncertain significance
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr16:15831401
GRCh38:
Chr16:15737544
MYH11D1073E, D1066EFamilial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 4, Aortic aneurysm, familial thoracic 4,
Visceral myopathy 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
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