| NM_002474.3(MYH11):c.3594G>A (p.Arg1198=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000526479]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182234]|not provided [RCV001311434]|not specified [RCV001175584] |
Chr16:15732621 [GRCh38]
Chr16:15826478 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3294-148T>A |
single nucleotide variant |
not provided [RCV001643612] |
Chr16:15735726 [GRCh38]
Chr16:15829583 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.598T>G (p.Ser200Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000544782] |
Chr16:15786665 [GRCh38]
Chr16:15880522 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4815G>A (p.Leu1605=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000529670]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177338] |
Chr16:15720289 [GRCh38]
Chr16:15814146 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000525433]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182232]|not provided [RCV001575927] |
Chr16:15718339 [GRCh38]
Chr16:15812196 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4848T>C (p.Ala1616=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000544566]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341331] |
Chr16:15720256 [GRCh38]
Chr16:15814113 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3895G>A (p.Ala1299Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002527607]|not provided [RCV000520475] |
Chr16:15724956 [GRCh38]
Chr16:15818813 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3791T>C (p.Leu1264Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000144438]|Cardiovascular phenotype [RCV000243616]|not provided [RCV000182510] |
Chr16:15726915 [GRCh38]
Chr16:15820772 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance|not provided |
| MYH11:c.503-14_503-12del |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV000625181]|Familial thoracic aortic aneurysm and aortic dissection [RCV000182488]|not provided [RCV001711092]|not specified [RCV000245509] |
Chr16:15798699..15798701 [GRCh38]
Chr16:15892556..15892558 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3824G>T (p.Arg1275Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629099]|Cardiovascular phenotype [RCV000251625] |
Chr16:15726882 [GRCh38]
Chr16:15820739 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.1034-11C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002536686]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774536] |
Chr16:15763902 [GRCh38]
Chr16:15857759 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3652-10_3652-9insT |
insertion |
Aortic aneurysm, familial thoracic 4 [RCV001869099]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773569]|not provided [RCV001619838] |
Chr16:15727063..15727064 [GRCh38]
Chr16:15820920..15820921 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3389A>G (p.Glu1130Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641581] |
Chr16:15735483 [GRCh38]
Chr16:15829340 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2772G>A (p.Leu924=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641611]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176626] |
Chr16:15741550 [GRCh38]
Chr16:15835407 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.348G>A (p.Thr116=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001450114]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458059]|not specified [RCV002298718] |
Chr16:15823409 [GRCh38]
Chr16:15917266 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.948-5885G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641634] |
Chr16:15718306 [GRCh38]
Chr16:15812163 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4888G>C (p.Glu1630Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000544206] |
Chr16:15720216 [GRCh38]
Chr16:15814073 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15823235)_(15838272_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000545713] |
Chr16:15823235..15838272 [GRCh38]
Chr16:15917092..15932129 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_017668.3(NDE1):c.948-7058C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000542421]|not provided [RCV003736807] |
Chr16:15717133 [GRCh38]
Chr16:15810990 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2653-6G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000543043]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186901]|not provided [RCV001712505] |
Chr16:15741675 [GRCh38]
Chr16:15835532 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1968G>A (p.Leu656=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000547560]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191108] |
Chr16:15750228 [GRCh38]
Chr16:15844085 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000861530]|Connective tissue disorder [RCV000659927]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770692]|not provided [RCV001696829]|not specified [RCV003235265] |
Chr16:15717174 [GRCh38]
Chr16:15811031 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.120G>A (p.Ser40=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001488797]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180039]|not provided [RCV000544665]|not specified [RCV003323602] |
Chr16:15838133 [GRCh38]
Chr16:15931990 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2099G>A (p.Arg700Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000822494]|Aortic aneurysm, familial thoracic 4 [RCV002497029]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187856]|not provided [RCV000520837] |
Chr16:15748128 [GRCh38]
Chr16:15841985 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000531179]|not provided [RCV000996217] |
Chr16:15720882 [GRCh38]
Chr16:15814739 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3722_3793del (p.Arg1241_Leu1264del) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000015193] |
Chr16:15726913..15726984 [GRCh38]
Chr16:15820770..15820841 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_001040113.1(MYH11):c.3791T>C (p.Leu1264Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000015194] |
Chr16:15726936 [GRCh38]
Chr16:15820793 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000015196]|Aortic aneurysm, familial thoracic 4 [RCV002482869]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157330]|not provided [RCV001557760] |
Chr16:15748092 [GRCh38]
Chr16:15841949 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2208C>T (p.Ile736=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000755577]|Cardiovascular phenotype [RCV000621360]|Familial aortopathy [RCV000030294]|Familial thoracic aortic aneurysm and aortic dissection [RCV000243057]|not provided [RCV001811213]|not specified [RCV000126934] |
Chr16:15747916 [GRCh38]
Chr16:15841773 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.2412-9C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000470801]|Connective tissue disorder [RCV000659906]|Familial aortopathy [RCV000030295]|Familial thoracic aortic aneurysm and aortic dissection [RCV000377395]|not provided [RCV003656623]|not specified [RCV000126935] |
Chr16:15745246 [GRCh38]
Chr16:15839103 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641574]|Aortic aneurysm, familial thoracic 4 [RCV002496467]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313723]|not provided [RCV001753433]|not specified [RCV000030296] |
Chr16:15737509 [GRCh38]
Chr16:15831366 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.3652-6C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000232470]|Aortic aneurysm, familial thoracic 6 [RCV000211469]|Connective tissue disorder [RCV000659911]|Familial aortopathy [RCV000030297]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769667]|not provided [RCV001092822]|not specified [RCV000126940] |
Chr16:15727060 [GRCh38]
Chr16:15820917 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001079975]|Familial aortopathy [RCV000030298]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776089]|not provided [RCV000757515]|not specified [RCV000126942] |
Chr16:15726890 [GRCh38]
Chr16:15820747 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000230875]|Familial aortopathy [RCV000030299]|Familial thoracic aortic aneurysm and aortic dissection [RCV000252040]|Lissencephaly 4 [RCV000279480]|not provided [RCV001811214]|not specified [RCV000126956] |
Chr16:15720860 [GRCh38]
Chr16:15814717 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000554857]|Aortic aneurysm, familial thoracic 4 [RCV002482921]|Connective tissue disorder [RCV000659924]|Familial thoracic aortic aneurysm and aortic dissection [RCV000611869]|not provided [RCV000762209]|not specified [RCV000182562] |
Chr16:15720243 [GRCh38]
Chr16:15814100 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_017668.3(NDE1):c.948-4460del |
deletion |
Familial aortopathy [RCV000030301] |
Chr16:15719729 [GRCh38]
Chr16:15813586 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5739G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625178]|Familial aortopathy [RCV000030303]|Familial thoracic aortic aneurysm and aortic dissection [RCV000261295]|Lissencephaly 4 [RCV001121132]|Lissencephaly, Recessive [RCV000314142]|not provided [RCV001811215]|not specified [RCV000177908] |
Chr16:15718452 [GRCh38]
Chr16:15812309 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.948-5889A>G |
single nucleotide variant |
Familial aortopathy [RCV000030304] |
Chr16:15718302 [GRCh38]
Chr16:15812159 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 |
copy number gain |
See cases [RCV000050353] |
Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050356]|See cases [RCV000050356] |
Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 |
copy number loss |
See cases [RCV000050818] |
Chr16:14816348..18047194 [GRCh38]
Chr16:14910205..18141051 [GRCh37]
Chr16:14817706..18048552 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 |
copy number loss |
See cases [RCV000050970] |
Chr16:14816348..18658403 [GRCh38]
Chr16:14910205..18669725 [GRCh37]
Chr16:14817706..18577226 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 |
copy number gain |
See cases [RCV000050861] |
Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|Hyperactivity [RCV000050864]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|See cases [RCV000050863] |
Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050778]|See cases [RCV000050778] |
Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 |
copy number loss |
See cases [RCV000050779] |
Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 |
copy number gain |
See cases [RCV000050601] |
Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3 |
likely pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 |
copy number gain |
See cases [RCV000050720] |
Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 |
copy number loss |
See cases [RCV000050722] |
Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 |
copy number gain |
Cleft upper lip [RCV000050367]|See cases [RCV000050367] |
Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|See cases [RCV000050377] |
Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3 |
copy number gain |
See cases [RCV000051358] |
Chr16:14717194..16450842 [GRCh38]
Chr16:14811051..16544699 [GRCh37]
Chr16:14718552..16452200 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3 |
copy number gain |
See cases [RCV000051359] |
Chr16:14717194..16508540 [GRCh38]
Chr16:14811051..16602397 [GRCh37]
Chr16:14718552..16509898 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816148-16100862)x3 |
copy number gain |
See cases [RCV000051360] |
Chr16:14816148..16100862 [GRCh38]
Chr16:14910005..16194719 [GRCh37]
Chr16:14817506..16102220 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816148-16431632)x3 |
copy number gain |
See cases [RCV000051387] |
Chr16:14816148..16431632 [GRCh38]
Chr16:14910005..16525489 [GRCh37]
Chr16:14817506..16432990 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3 |
copy number gain |
See cases [RCV000051390] |
Chr16:14816348..16148900 [GRCh38]
Chr16:14910205..16242757 [GRCh37]
Chr16:14817706..16150258 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 |
copy number gain |
See cases [RCV000051392] |
Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11 |
uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3 |
copy number gain |
See cases [RCV000051393] |
Chr16:14823949..16281234 [GRCh38]
Chr16:14917806..16375091 [GRCh37]
Chr16:14825307..16282592 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3 |
copy number gain |
See cases [RCV000051396] |
Chr16:14850703..16211879 [GRCh38]
Chr16:14944560..16305736 [GRCh37]
Chr16:14852061..16213237 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3 |
copy number gain |
See cases [RCV000051397] |
Chr16:14907656..16206199 [GRCh38]
Chr16:15001513..16300056 [GRCh37]
Chr16:14909014..16207557 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3 |
copy number gain |
See cases [RCV000051398] |
Chr16:14907656..16281234 [GRCh38]
Chr16:15001513..16375091 [GRCh37]
Chr16:14909014..16282592 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3 |
copy number gain |
See cases [RCV000051399] |
Chr16:15050263..18212997 [GRCh38]
Chr16:15144120..18306854 [GRCh37]
Chr16:15051621..18214355 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 |
copy number gain |
See cases [RCV000051353] |
Chr16:14609647..18765817 [GRCh38]
Chr16:14703504..18777139 [GRCh37]
Chr16:14611005..18684640 [NCBI36]
Chr16:16p13.12-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3 |
copy number gain |
See cases [RCV000051354] |
Chr16:14639096..16431491 [GRCh38]
Chr16:14732953..16525348 [GRCh37]
Chr16:14640454..16432849 [NCBI36]
Chr16:16p13.12-13.11 |
uncertain significance |
| GRCh38/hg38 16p13.12-13.11(chr16:14668182-16493213)x3 |
copy number gain |
See cases [RCV000051355] |
Chr16:14668182..16493213 [GRCh38]
Chr16:14762039..16587070 [GRCh37]
Chr16:14669540..16494571 [NCBI36]
Chr16:16p13.12-13.11 |
uncertain significance |
| GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3 |
copy number gain |
See cases [RCV000051356] |
Chr16:14668382..16100721 [GRCh38]
Chr16:14762239..16194578 [GRCh37]
Chr16:14669740..16102079 [NCBI36]
Chr16:16p13.12-13.11 |
uncertain significance |
| GRCh38/hg38 16p13.12-13.11(chr16:14668382-16678513)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|See cases [RCV000051357] |
Chr16:14668382..16678513 [GRCh38]
Chr16:14762239..16772370 [GRCh37]
Chr16:14669740..16679871 [NCBI36]
Chr16:16p13.12-13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 |
copy number gain |
See cases [RCV000051141] |
Chr16:15457445..18658403 [GRCh38]
Chr16:15551302..18669725 [GRCh37]
Chr16:15458803..18577226 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 |
copy number gain |
See cases [RCV000051001] |
Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 |
copy number loss |
See cases [RCV000051002] |
Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 |
copy number loss |
See cases [RCV000051057] |
Chr16:15140576..18658403 [GRCh38]
Chr16:15234433..18669725 [GRCh37]
Chr16:15141934..18577226 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 |
copy number gain |
See cases [RCV000051828] |
Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1 |
copy number loss |
See cases [RCV000052487] |
Chr16:14823949..18055828 [GRCh38]
Chr16:14917806..18149685 [GRCh37]
Chr16:14825307..18057186 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14874798-16100862)x1 |
copy number loss |
See cases [RCV000052488] |
Chr16:14874798..16100862 [GRCh38]
Chr16:14968655..16194719 [GRCh37]
Chr16:14876156..16102220 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14954694-16100862)x1 |
copy number loss |
See cases [RCV000052505] |
Chr16:14954694..16100862 [GRCh38]
Chr16:15048551..16194719 [GRCh37]
Chr16:14956052..16102220 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15310395-18213149)x1 |
copy number loss |
See cases [RCV000052512] |
Chr16:15310395..18213149 [GRCh38]
Chr16:15404252..18307006 [GRCh37]
Chr16:15311753..18214507 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3 |
copy number gain |
See cases [RCV000052515] |
Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1 |
copy number loss |
See cases [RCV000052516] |
Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1 |
copy number loss |
See cases [RCV000052517] |
Chr16:15434653..16281234 [GRCh38]
Chr16:15528510..16375091 [GRCh37]
Chr16:15436011..16282592 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3 |
copy number gain |
See cases [RCV000053093] |
Chr16:15060830..18212997 [GRCh38]
Chr16:15154687..18306854 [GRCh37]
Chr16:15062188..18214355 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|See cases [RCV000053094] |
Chr16:15185940..18658544 [GRCh38]
Chr16:15279797..18669866 [GRCh37]
Chr16:15187298..18577367 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 |
copy number gain |
See cases [RCV000053095] |
Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 |
copy number gain |
See cases [RCV000053096] |
Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p13.11-12.3(chr16:15457445-17169859)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|See cases [RCV000053308] |
Chr16:15457445..17169859 [GRCh38]
Chr16:15551302..17263716 [GRCh37]
Chr16:15458803..17171217 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15187330-16281234)x3 |
copy number gain |
See cases [RCV000053097] |
Chr16:15187330..16281234 [GRCh38]
Chr16:15281187..16375091 [GRCh37]
Chr16:15188688..16282592 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3 |
copy number gain |
See cases [RCV000053098] |
Chr16:15299037..18267893 [GRCh38]
Chr16:15392894..18361750 [GRCh37]
Chr16:15300395..18269251 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 |
copy number gain |
See cases [RCV000053099] |
Chr16:15310595..18620659 [GRCh38]
Chr16:15404452..18631981 [GRCh37]
Chr16:15311953..18539482 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3 |
copy number gain |
See cases [RCV000053102] |
Chr16:15398460..18047194 [GRCh38]
Chr16:15492317..18141051 [GRCh37]
Chr16:15399818..18048552 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| NM_002474.3(MYH11):c.254C>T (p.Ser85Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176690] |
Chr16:15837999 [GRCh38]
Chr16:15931856 [GRCh37]
Chr16:15839357 [NCBI36]
Chr16:16p13.11 |
uncertain significance|not provided |
| NM_002474.3(MYH11):c.3010C>G (p.Leu1004Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001861713]|Aortic aneurysm, familial thoracic 4 [RCV002493074]|Connective tissue disorder [RCV000659909]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184482]|not provided [RCV001550839] |
Chr16:15738676 [GRCh38]
Chr16:15832533 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5078A>G (p.Gln1693Arg) |
single nucleotide variant |
Connective tissue disorder [RCV000659925] |
Chr16:15719589 [GRCh38]
Chr16:15813446 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4255G>C (p.Glu1419Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000659919]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524953] |
Chr16:15724271 [GRCh38]
Chr16:15818128 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5722G>A (p.Asp1908Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000659930] |
Chr16:15714973 [GRCh38]
Chr16:15808830 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.1(MYH11):c.5152G>A (p.Glu1718Lys) |
single nucleotide variant |
Malignant melanoma [RCV000070998] |
Chr16:15719260 [GRCh38]
Chr16:15813117 [GRCh37]
Chr16:15720618 [NCBI36]
Chr16:16p13.11 |
not provided |
| NM_002474.3(MYH11):c.3858+13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002530561]|Connective tissue disorder [RCV000659914]|not specified [RCV001824859] |
Chr16:15726835 [GRCh38]
Chr16:15820692 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.*755G>A |
single nucleotide variant |
Connective tissue disorder [RCV000659915] |
Chr16:15725006 [GRCh38]
Chr16:15818863 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2924C>T (p.Thr975Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000765255]|Aortic aneurysm, familial thoracic 4 [RCV002477473]|Connective tissue disorder [RCV000659908]|MYH11-related condition [RCV003424265] |
Chr16:15740124 [GRCh38]
Chr16:15833981 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3874G>A (p.Val1292Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000701003]|Connective tissue disorder [RCV000659916]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773634]|not provided [RCV000762211] |
Chr16:15724977 [GRCh38]
Chr16:15818834 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| Single allele |
deletion |
Epilepsy [RCV001293377] |
Chr16:14968859..16363239 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1743T>C (p.Ala581=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094462]|Cardiovascular phenotype [RCV000621221]|Familial thoracic aortic aneurysm and aortic dissection [RCV000250326]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775601]|Visceral myopathy 2 [RCV001775602]|not specified [RCV000126931] |
Chr16:15756347 [GRCh38]
Chr16:15850204 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.2061C>T (p.Ser687=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000757511]|Cardiovascular phenotype [RCV000617498]|Familial thoracic aortic aneurysm and aortic dissection [RCV000242575]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775603]|Visceral myopathy 2 [RCV001775604]|not provided [RCV001812076]|not specified [RCV000126932] |
Chr16:15748166 [GRCh38]
Chr16:15842023 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.2079C>T (p.Phe693=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000476074]|Cardiovascular phenotype [RCV000617049]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245053]|not provided [RCV001812077]|not specified [RCV000126933] |
Chr16:15748148 [GRCh38]
Chr16:15842005 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.2472C>T (p.Ala824=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094377]|Cardiovascular phenotype [RCV000621372]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245386]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775605]|Visceral myopathy 2 [RCV001775606]|not specified [RCV000126936] |
Chr16:15745177 [GRCh38]
Chr16:15839034 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.2520+17A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625179]|not provided [RCV001812078]|not specified [RCV000126937] |
Chr16:15745112 [GRCh38]
Chr16:15838969 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.2961C>T (p.Ile987=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000653]|Familial thoracic aortic aneurysm and aortic dissection [RCV000275069]|not provided [RCV001812079]|not specified [RCV000126938] |
Chr16:15740087 [GRCh38]
Chr16:15833944 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000231857]|Familial thoracic aortic aneurysm and aortic dissection [RCV000243422]|not provided [RCV003736596]|not specified [RCV000126939] |
Chr16:15735562 [GRCh38]
Chr16:15829419 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000755575]|Cardiovascular phenotype [RCV000617806]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253396]|Lissencephaly, Recessive [RCV000359456]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775607]|Visceral myopathy 2 [RCV001775608]|not provided [RCV001812080]|not specified [RCV000126941] |
Chr16:15727006 [GRCh38]
Chr16:15820863 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000226099]|Cardiovascular phenotype [RCV000617050]|Connective tissue disorder [RCV000659912]|Familial thoracic aortic aneurysm and aortic dissection [RCV000246310]|not provided [RCV001092821]|not specified [RCV000126943] |
Chr16:15726878 [GRCh38]
Chr16:15820735 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3858+16G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002055687]|not provided [RCV001579680]|not specified [RCV000126944] |
Chr16:15726832 [GRCh38]
Chr16:15820689 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000467652]|Cardiovascular phenotype [RCV000617351]|Familial thoracic aortic aneurysm and aortic dissection [RCV000242975]|Lissencephaly 4 [RCV001116427]|Lissencephaly, Recessive [RCV000274667]|not provided [RCV001812081]|not specified [RCV000126945] |
Chr16:15724985 [GRCh38]
Chr16:15818842 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000473858]|Cardiovascular phenotype [RCV000622097]|Familial thoracic aortic aneurysm and aortic dissection [RCV000250829]|Lissencephaly 4 [RCV001121347]|Lissencephaly, Recessive [RCV000383596]|not provided [RCV001812082]|not specified [RCV000126946] |
Chr16:15724796 [GRCh38]
Chr16:15818653 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4095C>T (p.His1365=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000232924]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777692]|Lissencephaly, Recessive [RCV000262576]|MYH11-related condition [RCV003945134]|not specified [RCV000126947] |
Chr16:15724668 [GRCh38]
Chr16:15818525 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_017668.3(NDE1):c.*384C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000298077]|Lissencephaly 4 [RCV001119328]|Lissencephaly, Recessive [RCV000353000]|not provided [RCV001812083]|not specified [RCV000126948] |
Chr16:15724635 [GRCh38]
Chr16:15818492 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000474754]|Cardiovascular phenotype [RCV000619106]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244031]|Lissencephaly 4 [RCV001116326]|not provided [RCV000757514]|not specified [RCV000126949] |
Chr16:15724368 [GRCh38]
Chr16:15818225 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000609871]|Cardiovascular phenotype [RCV000617695]|Familial thoracic aortic aneurysm and aortic dissection [RCV000250056]|Lissencephaly 4 [RCV001116324]|Lissencephaly, Recessive [RCV000316233]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775609]|Visceral myopathy 2 [RCV001775610]|not provided [RCV001705917]|not specified [RCV000126950] |
Chr16:15724284 [GRCh38]
Chr16:15818141 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000229335]|Familial thoracic aortic aneurysm and aortic dissection [RCV000247892]|Lissencephaly, Recessive [RCV000322004]|not provided [RCV001812084]|not specified [RCV000126951] |
Chr16:15721599 [GRCh38]
Chr16:15815456 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001081210]|Connective tissue disorder [RCV000659920]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245430]|not provided [RCV000589993]|not specified [RCV000126952] |
Chr16:15721494 [GRCh38]
Chr16:15815351 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000471823]|Cardiovascular phenotype [RCV000244209]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769663]|not provided [RCV001812085]|not specified [RCV000126953] |
Chr16:15721478 [GRCh38]
Chr16:15815335 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017668.3(NDE1):c.948-2772T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000203113]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769662]|not provided [RCV000857983]|not specified [RCV000126954] |
Chr16:15721419 [GRCh38]
Chr16:15815276 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.948-3127C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094458]|Familial thoracic aortic aneurysm and aortic dissection [RCV000309874]|Lissencephaly 4 [RCV001121239]|Lissencephaly, Recessive [RCV000362570]|not provided [RCV003736597]|not specified [RCV000126955] |
Chr16:15721064 [GRCh38]
Chr16:15814921 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.948-3356G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001930]|Connective tissue disorder [RCV000659923]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769660]|not provided [RCV001812086]|not specified [RCV000126957] |
Chr16:15720835 [GRCh38]
Chr16:15814692 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001078942]|Connective tissue disorder [RCV000659926]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776298]|not provided [RCV002292435]|not specified [RCV000126958] |
Chr16:15719231 [GRCh38]
Chr16:15813088 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017668.3(NDE1):c.948-6839G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000234125]|Cardiovascular phenotype [RCV000617112]|Familial thoracic aortic aneurysm and aortic dissection [RCV000247934]|Lissencephaly, Recessive [RCV000387242]|not provided [RCV001572733]|not specified [RCV000126960] |
Chr16:15717352 [GRCh38]
Chr16:15811209 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.5370C>T (p.Leu1790=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000464250]|Familial thoracic aortic aneurysm and aortic dissection [RCV000248755]|not provided [RCV001723697]|not specified [RCV000146504] |
Chr16:15717274 [GRCh38]
Chr16:15811131 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.5379G>A (p.Gln1793=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001494681]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177613]|not provided [RCV001812087]|not specified [RCV000126962] |
Chr16:15717265 [GRCh38]
Chr16:15811122 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000601977]|Cardiovascular phenotype [RCV000622103]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245108]|Lissencephaly 4 [RCV000304468]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775611]|Visceral myopathy 2 [RCV001775612]|not provided [RCV001812088]|not specified [RCV000146505] |
Chr16:15717205 [GRCh38]
Chr16:15811062 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000614501]|Cardiovascular phenotype [RCV000619131]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253101]|Lissencephaly 4 [RCV000344115]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775613]|Visceral myopathy 2 [RCV001775614]|not provided [RCV001812089]|not specified [RCV000146506] |
Chr16:15717166 [GRCh38]
Chr16:15811023 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017668.3(NDE1):c.948-7059C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001814]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770690]|not provided [RCV001812090]|not specified [RCV000126965] |
Chr16:15717132 [GRCh38]
Chr16:15810989 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000460816]|Cardiovascular phenotype [RCV000618634]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245881]|Lissencephaly 4 [RCV000292243]|not provided [RCV001812091]|not specified [RCV000126966] |
Chr16:15715260 [GRCh38]
Chr16:15809117 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000464298]|Connective tissue disorder [RCV000680549]|Familial thoracic aortic aneurysm and aortic dissection [RCV000242448]|Lissencephaly, Recessive [RCV000371604]|not provided [RCV001092817]|not specified [RCV000126967] |
Chr16:15715211 [GRCh38]
Chr16:15809068 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000475215]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776051]|not provided [RCV001311430]|not specified [RCV000126968] |
Chr16:15715019 [GRCh38]
Chr16:15808876 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001081493]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770689]|not provided [RCV000755309]|not specified [RCV000126969] |
Chr16:15715004 [GRCh38]
Chr16:15808861 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000273]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770688]|Lissencephaly 4 [RCV000321069]|not specified [RCV000126970] |
Chr16:15714938 [GRCh38]
Chr16:15808795 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_001040113.1(MYH11):c.5C>G (p.Ala2Gly) |
single nucleotide variant |
not provided [RCV000126971] |
Chr16:15838248 [GRCh38]
Chr16:15932105 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.12G>A (p.Lys4=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000466346]|Cardiovascular phenotype [RCV000619479]|Connective tissue disorder [RCV000680563]|Familial thoracic aortic aneurysm and aortic dissection [RCV000251522]|not provided [RCV000858508]|not specified [RCV000126972] |
Chr16:15838241 [GRCh38]
Chr16:15932098 [GRCh37]
Chr16:16p13.11 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.135C>T (p.Phe45=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000464188]|Cardiovascular phenotype [RCV000619519]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244532]|not provided [RCV001812092]|not specified [RCV000126973] |
Chr16:15838118 [GRCh38]
Chr16:15931975 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.291C>T (p.Asn97=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000466039]|Cardiovascular phenotype [RCV000617088]|Familial thoracic aortic aneurysm and aortic dissection [RCV000251133]|not provided [RCV000588190]|not specified [RCV000126974] |
Chr16:15837962 [GRCh38]
Chr16:15931819 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.387A>G (p.Lys129=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000999967]|Familial thoracic aortic aneurysm and aortic dissection [RCV000248357]|not provided [RCV000588287]|not specified [RCV000126975] |
Chr16:15823370 [GRCh38]
Chr16:15917227 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.417C>T (p.Val139=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000757512]|Cardiovascular phenotype [RCV000621162]|Familial thoracic aortic aneurysm and aortic dissection [RCV000242321]|not provided [RCV001812093]|not specified [RCV000126976] |
Chr16:15823340 [GRCh38]
Chr16:15917197 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.633+1942T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000226159]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170346]|not provided [RCV001812094]|not specified [RCV000126977] |
Chr16:15784688 [GRCh38]
Chr16:15878545 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.792T>C (p.Tyr264=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000476101]|Cardiovascular phenotype [RCV000618063]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244900]|not provided [RCV001723698]|not specified [RCV000126978] |
Chr16:15776175 [GRCh38]
Chr16:15870032 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.987C>T (p.Thr329=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625467]|Cardiovascular phenotype [RCV000617028]|Familial thoracic aortic aneurysm and aortic dissection [RCV000242819]|not provided [RCV001812095]|not specified [RCV000126979] |
Chr16:15771615 [GRCh38]
Chr16:15865472 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.1212G>C (p.Gly404=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001085033]|Familial thoracic aortic aneurysm and aortic dissection [RCV000246554]|not provided [RCV000475796]|not specified [RCV000126980] |
Chr16:15760576 [GRCh38]
Chr16:15854433 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1249-11G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094327]|Familial thoracic aortic aneurysm and aortic dissection [RCV000380615]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775615]|Visceral myopathy 2 [RCV001775616]|not specified [RCV000126981] |
Chr16:15759739 [GRCh38]
Chr16:15853596 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1419G>A (p.Gln473=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000435]|Cardiovascular phenotype [RCV000617099]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245779]|not provided [RCV001812096]|not specified [RCV000126982] |
Chr16:15757983 [GRCh38]
Chr16:15851840 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1512C>T (p.Ile504=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000460520]|Connective tissue disorder [RCV000659903]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769675]|not provided [RCV003415935]|not specified [RCV000126983] |
Chr16:15757890 [GRCh38]
Chr16:15851747 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) |
single nucleotide variant |
Altered myosin contractile function [RCV000148692]|Aortic aneurysm, familial thoracic 4 [RCV000206298]|Aortic aneurysm, familial thoracic 4 [RCV000844919]|Aortic aneurysm, familial thoracic 4 [RCV003224171]|Connective tissue disorder [RCV000659901]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776119]|Inborn genetic diseases [RCV000251088]|Loeys-Dietz syndrome [RCV000157329]|MYH11-related condition [RCV003935256]|not provided [RCV001092826]|not specified [RCV000182546] |
Chr16:15778831 [GRCh38]
Chr16:15872688 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys) |
single nucleotide variant |
Aortic aneurysm [RCV000148693]|Aortic aneurysm, familial thoracic 4 [RCV000689687]|Aortic aneurysm, familial thoracic 4 [RCV002478413]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804858] |
Chr16:15720162 [GRCh38]
Chr16:15814019 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000148694]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776190]|MYH11-related condition [RCV003917465]|not provided [RCV000586477]|not specified [RCV000505700] |
Chr16:15750191 [GRCh38]
Chr16:15844048 [GRCh37]
Chr16:16p13.11 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14892880-16533890) |
copy number gain |
16p13.11 microduplication syndrome [RCV002280703] |
Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000148691]|Familial thoracic aortic aneurysm and aortic dissection [RCV000611174]|not provided [RCV000182528]|not specified [RCV001174812] |
Chr16:15718337 [GRCh38]
Chr16:15812194 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1575+6G>A |
single nucleotide variant |
not specified [RCV001293587] |
Chr16:15757821 [GRCh38]
Chr16:15851678 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1491G>A (p.Glu497=) |
single nucleotide variant |
not provided [RCV000999526] |
Chr16:15757911 [GRCh38]
Chr16:15851768 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 |
copy number loss |
See cases [RCV000050863] |
Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15048751-16292235) |
copy number loss |
Abnormality of the head [RCV001291975] |
Chr16:15048751..16292235 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1871G>A (p.Arg624His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002055858]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143925]|not specified [RCV000225694] |
Chr16:15750325 [GRCh38]
Chr16:15844182 [GRCh37]
Chr16:16p13.11 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3196G>A (p.Asp1066Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000864853]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143926] |
Chr16:15737546 [GRCh38]
Chr16:15831403 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000229023]|Familial thoracic aortic aneurysm and aortic dissection [RCV000388279]|not provided [RCV003886379]|not specified [RCV000143927] |
Chr16:15717308 [GRCh38]
Chr16:15811165 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 |
copy number gain |
See cases [RCV000133809] |
Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14874998-16100721)x1 |
copy number loss |
See cases [RCV000050356] |
Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14874998-16034020)x3 |
copy number gain |
See cases [RCV000050367] |
Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 |
copy number gain |
See cases [RCV000050377] |
Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14954894-16100721)x3 |
copy number gain |
See cases [RCV000050778] |
Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2735G>A (p.Arg912Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180903] |
Chr16:15741587 [GRCh38]
Chr16:15835444 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) |
single nucleotide variant |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001449889]|Visceral myopathy 1 [RCV000172830] |
Chr16:15732617 [GRCh38]
Chr16:15826474 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic|likely benign |
| NM_017668.3(NDE1):c.947+7126G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117450]|Familial thoracic aortic aneurysm and aortic dissection [RCV000254041]|Lissencephaly 4 [RCV000279137]|not specified [RCV000126971] |
Chr16:15703986 [GRCh38]
Chr16:15797843 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017668.3(NDE1):c.948-53G>A |
single nucleotide variant |
not provided [RCV000834589]|not specified [RCV000146503] |
Chr16:15724138 [GRCh38]
Chr16:15817995 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.956C>T (p.Thr319Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000805937]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312962]|Lissencephaly 4 [RCV000146507]|not provided [RCV001092820]|not specified [RCV000516410] |
Chr16:15724199 [GRCh38]
Chr16:15818056 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1 |
copy number loss |
See cases [RCV000134456] |
Chr16:15398450..16211820 [GRCh38]
Chr16:15492307..16305677 [GRCh37]
Chr16:15399808..16213178 [NCBI36]
Chr16:16p13.11 |
pathogenic|likely pathogenic|conflicting data from submitters |
| NM_002474.3(MYH11):c.5435_5440dup (p.Phe1812_Lys1813dup) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000203002] |
Chr16:15717203..15717204 [GRCh38]
Chr16:15811060..15811061 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3 |
copy number gain |
See cases [RCV000134080] |
Chr16:14954875..16100718 [GRCh38]
Chr16:15048732..16194575 [GRCh37]
Chr16:14956233..16102076 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1 |
copy number loss |
See cases [RCV000135322] |
Chr16:14716125..16383721 [GRCh38]
Chr16:14809982..16477578 [GRCh37]
Chr16:14717483..16385079 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1 |
copy number loss |
See cases [RCV000135502] |
Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 |
copy number gain |
See cases [RCV000135525] |
Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p13.11(chr16:15457445-16633564)x3 |
copy number gain |
See cases [RCV000136541] |
Chr16:15457445..16633564 [GRCh38]
Chr16:15551302..16727421 [GRCh37]
Chr16:15458803..16634922 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15457205-16100718)x3 |
copy number gain |
See cases [RCV000135975] |
Chr16:15457205..16100718 [GRCh38]
Chr16:15551062..16194575 [GRCh37]
Chr16:15458563..16102076 [NCBI36]
Chr16:16p13.11 |
conflicting data from submitters |
| GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 |
copy number gain |
See cases [RCV000136807] |
Chr16:15060830..18535437 [GRCh38]
Chr16:15154687..18546759 [GRCh37]
Chr16:15062188..18454260 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3 |
copy number gain |
See cases [RCV000137429] |
Chr16:14783830..16467294 [GRCh38]
Chr16:14877687..16561151 [GRCh37]
Chr16:14785188..16468652 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3 |
copy number gain |
See cases [RCV000137451] |
Chr16:15261472..18768479 [GRCh38]
Chr16:15355329..18779801 [GRCh37]
Chr16:15262830..18687302 [NCBI36]
Chr16:16p13.11-12.3 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 |
copy number gain |
See cases [RCV000137543] |
Chr16:14783830..18680735 [GRCh38]
Chr16:14877687..18692057 [GRCh37]
Chr16:14785188..18599558 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3 |
copy number gain |
See cases [RCV000137588] |
Chr16:15194583..18726698 [GRCh38]
Chr16:15288440..18738020 [GRCh37]
Chr16:15195941..18645521 [NCBI36]
Chr16:16p13.11-12.3 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 |
copy number gain |
See cases [RCV000137700] |
Chr16:15186140..18783183 [GRCh38]
Chr16:15279997..18794505 [GRCh37]
Chr16:15187498..18702006 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000202728]|Aortic aneurysm, familial thoracic 4 [RCV003448286]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184303]|not provided [RCV000757517] |
Chr16:15719615 [GRCh38]
Chr16:15813472 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3 |
copy number gain |
See cases [RCV000137491] |
Chr16:15194583..18170423 [GRCh38]
Chr16:15288440..18264280 [GRCh37]
Chr16:15195941..18171781 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3 |
copy number gain |
See cases [RCV000137632] |
Chr16:14783830..16753905 [GRCh38]
Chr16:14877687..16847762 [GRCh37]
Chr16:14785188..16755263 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3 |
copy number gain |
See cases [RCV000137336] |
Chr16:15194583..18214016 [GRCh38]
Chr16:15288440..18307873 [GRCh37]
Chr16:15195941..18215374 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance|conflicting data from submitters |
| GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3 |
copy number gain |
See cases [RCV000137408] |
Chr16:14783830..16741305 [GRCh38]
Chr16:14877687..16835162 [GRCh37]
Chr16:14785188..16742663 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1 |
copy number loss |
See cases [RCV000138037] |
Chr16:14816259..16431491 [GRCh38]
Chr16:14910116..16525348 [GRCh37]
Chr16:14817617..16432849 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3 |
copy number gain |
See cases [RCV000138207] |
Chr16:15345033..16431491 [GRCh38]
Chr16:15438890..16525348 [GRCh37]
Chr16:15346391..16432849 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1 |
copy number loss |
See cases [RCV000138104] |
Chr16:14783830..16234088 [GRCh38]
Chr16:14877687..16327945 [GRCh37]
Chr16:14785188..16235446 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3 |
copy number gain |
See cases [RCV000138003] |
Chr16:15194583..18236409 [GRCh38]
Chr16:15288440..18330266 [GRCh37]
Chr16:15195941..18237767 [NCBI36]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1 |
copy number loss |
See cases [RCV000138168] |
Chr16:15398450..18212997 [GRCh38]
Chr16:15492307..18306854 [GRCh37]
Chr16:15399808..18214355 [NCBI36]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15345033-16753905)x3 |
copy number gain |
See cases [RCV000137763] |
Chr16:15345033..16753905 [GRCh38]
Chr16:15438890..16847762 [GRCh37]
Chr16:15346391..16755263 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3 |
copy number gain |
See cases [RCV000137801] |
Chr16:14783830..16268850 [GRCh38]
Chr16:14877687..16362707 [GRCh37]
Chr16:14785188..16270208 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1 |
copy number loss |
See cases [RCV000138825] |
Chr16:15457205..18212984 [GRCh38]
Chr16:15551062..18306841 [GRCh37]
Chr16:15458563..18214342 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1 |
copy number loss |
See cases [RCV000138522] |
Chr16:14783830..16198378 [GRCh38]
Chr16:14877687..16292235 [GRCh37]
Chr16:14785188..16199736 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15398450-16198378)x1 |
copy number loss |
See cases [RCV000138525] |
Chr16:15398450..16198378 [GRCh38]
Chr16:15492307..16292235 [GRCh37]
Chr16:15399808..16199736 [NCBI36]
Chr16:16p13.11 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 |
copy number gain |
See cases [RCV000138254] |
Chr16:14783830..18768479 [GRCh38]
Chr16:14877687..18779801 [GRCh37]
Chr16:14785188..18687302 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 |
copy number gain |
See cases [RCV000138546] |
Chr16:15186140..18768479 [GRCh38]
Chr16:15279997..18779801 [GRCh37]
Chr16:15187498..18687302 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3 |
copy number gain |
See cases [RCV000139447] |
Chr16:14832186..16741305 [GRCh38]
Chr16:14926043..16835162 [GRCh37]
Chr16:14833544..16742663 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14954894-16198378)x1 |
copy number loss |
See cases [RCV000139438] |
Chr16:14954894..16198378 [GRCh38]
Chr16:15048751..16292235 [GRCh37]
Chr16:14956252..16199736 [NCBI36]
Chr16:16p13.11 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16p13.11(chr16:15345033-16268850)x3 |
copy number gain |
See cases [RCV000139195] |
Chr16:15345033..16268850 [GRCh38]
Chr16:15438890..16362707 [GRCh37]
Chr16:15346391..16270208 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 |
copy number gain |
See cases [RCV000139051] |
Chr16:15184811..18535419 [GRCh38]
Chr16:15278668..18546741 [GRCh37]
Chr16:15186169..18454242 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3 |
copy number gain |
See cases [RCV000139898] |
Chr16:15388063..16450562 [GRCh38]
Chr16:15481920..16544419 [GRCh37]
Chr16:15389421..16451920 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1 |
copy number loss |
See cases [RCV000139649] |
Chr16:15398450..18068310 [GRCh38]
Chr16:15492307..18162167 [GRCh37]
Chr16:15399808..18069668 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4 |
copy number gain |
See cases [RCV000141231] |
Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15388063-16234983)x3 |
copy number gain |
See cases [RCV000140897] |
Chr16:15388063..16234983 [GRCh38]
Chr16:15481920..16328840 [GRCh37]
Chr16:15389421..16236341 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15344307-16294387)x3 |
copy number gain |
See cases [RCV000140800] |
Chr16:15344307..16294387 [GRCh38]
Chr16:15438164..16388244 [GRCh37]
Chr16:15345665..16295745 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3 |
copy number gain |
See cases [RCV000140802] |
Chr16:14799872..16440033 [GRCh38]
Chr16:14893729..16533890 [GRCh37]
Chr16:14801230..16441391 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 |
copy number gain |
See cases [RCV000140646] |
Chr16:15128213..18577521 [GRCh38]
Chr16:15222070..18588843 [GRCh37]
Chr16:15129571..18496344 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3 |
copy number gain |
See cases [RCV000140664] |
Chr16:15186140..18068310 [GRCh38]
Chr16:15279997..18162167 [GRCh37]
Chr16:15187498..18069668 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3 |
copy number gain |
See cases [RCV000140931] |
Chr16:14806311..16439385 [GRCh38]
Chr16:14900168..16533242 [GRCh37]
Chr16:14807669..16440743 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3 |
copy number gain |
See cases [RCV000140727] |
Chr16:14686278..16431491 [GRCh38]
Chr16:14780135..16525348 [GRCh37]
Chr16:14687636..16432849 [NCBI36]
Chr16:16p13.12-13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3 |
copy number gain |
See cases [RCV000140763] |
Chr16:14783830..16450901 [GRCh38]
Chr16:14877687..16544758 [GRCh37]
Chr16:14785188..16452259 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3 |
copy number gain |
See cases [RCV000141937] |
Chr16:14799175..16450562 [GRCh38]
Chr16:14893032..16544419 [GRCh37]
Chr16:14800533..16451920 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15388063-16232220)x3 |
copy number gain |
See cases [RCV000141942] |
Chr16:15388063..16232220 [GRCh38]
Chr16:15481920..16326077 [GRCh37]
Chr16:15389421..16233578 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3 |
copy number gain |
See cases [RCV000141961] |
Chr16:14799023..16440033 [GRCh38]
Chr16:14892880..16533890 [GRCh37]
Chr16:14800381..16441391 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1 |
copy number loss |
See cases [RCV000141894] |
Chr16:14805819..16420254 [GRCh38]
Chr16:14899676..16514111 [GRCh37]
Chr16:14807177..16421612 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3 |
copy number gain |
See cases [RCV000141850] |
Chr16:15382367..16450562 [GRCh38]
Chr16:15476224..16544419 [GRCh37]
Chr16:15383725..16451920 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1 |
copy number loss |
See cases [RCV000141748] |
Chr16:14802528..16236815 [GRCh38]
Chr16:14896385..16330672 [GRCh37]
Chr16:14803886..16238173 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3 |
copy number gain |
See cases [RCV000141751] |
Chr16:14772426..16440033 [GRCh38]
Chr16:14866283..16533890 [GRCh37]
Chr16:14773784..16441391 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1 |
copy number loss |
See cases [RCV000141796] |
Chr16:14772427..16298053 [GRCh38]
Chr16:14866284..16391910 [GRCh37]
Chr16:14773785..16299411 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3 |
copy number gain |
See cases [RCV000141667] |
Chr16:15325296..18078611 [GRCh38]
Chr16:15419153..18172468 [GRCh37]
Chr16:15326654..18079969 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000203125]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189909]|not provided [RCV001775667] |
Chr16:15708827 [GRCh38]
Chr16:15802684 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3 |
copy number gain |
See cases [RCV000142352] |
Chr16:14806274..16440033 [GRCh38]
Chr16:14900131..16533890 [GRCh37]
Chr16:14807632..16441391 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1 |
copy number loss |
See cases [RCV000142363] |
Chr16:14803768..16400926 [GRCh38]
Chr16:14897625..16494783 [GRCh37]
Chr16:14805126..16402284 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1 |
copy number loss |
See cases [RCV000142256] |
Chr16:14956111..16202043 [GRCh38]
Chr16:15049968..16295900 [GRCh37]
Chr16:14957469..16203401 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3 |
copy number gain |
See cases [RCV000142280] |
Chr16:14803931..16199448 [GRCh38]
Chr16:14897788..16293305 [GRCh37]
Chr16:14805289..16200806 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14874998-16034020)x1 |
copy number loss |
See cases [RCV000142443] |
Chr16:14874998..16034020 [GRCh38]
Chr16:14968855..16127877 [GRCh37]
Chr16:14876356..16035378 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3 |
copy number gain |
See cases [RCV000142135] |
Chr16:15218552..18148856 [GRCh38]
Chr16:15312409..18242713 [GRCh37]
Chr16:15219910..18150214 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1 |
copy number loss |
See cases [RCV000142066] |
Chr16:15387890..16294387 [GRCh38]
Chr16:15481747..16388244 [GRCh37]
Chr16:15389248..16295745 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3 |
copy number gain |
See cases [RCV000142145] |
Chr16:15356432..16364551 [GRCh38]
Chr16:15450289..16458408 [GRCh37]
Chr16:15357790..16365909 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3 |
copy number gain |
See cases [RCV000142084] |
Chr16:14806325..16450161 [GRCh38]
Chr16:14900182..16544018 [GRCh37]
Chr16:14807683..16451519 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3 |
copy number gain |
See cases [RCV000142092] |
Chr16:15034128..16427245 [GRCh38]
Chr16:15127985..16521102 [GRCh37]
Chr16:15035486..16428603 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15398450-16268850)x1 |
copy number loss |
See cases [RCV000143025] |
Chr16:15398450..16268850 [GRCh38]
Chr16:15492307..16362707 [GRCh37]
Chr16:15399808..16270208 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1 |
copy number loss |
See cases [RCV000142822] |
Chr16:14816356..16648337 [GRCh38]
Chr16:14910213..16742194 [GRCh37]
Chr16:14817714..16649695 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1 |
copy number loss |
See cases [RCV000142851] |
Chr16:14816356..16431517 [GRCh38]
Chr16:14910213..16525374 [GRCh37]
Chr16:14817714..16432875 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1 |
copy number loss |
See cases [RCV000143096] |
Chr16:14803931..16414182 [GRCh38]
Chr16:14897788..16508039 [GRCh37]
Chr16:14805289..16415540 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1 |
copy number loss |
See cases [RCV000142529] |
Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3 |
copy number gain |
See cases [RCV000142565] |
Chr16:14816348..16678513 [GRCh38]
Chr16:14910205..16772370 [GRCh37]
Chr16:14817706..16679871 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3 |
copy number gain |
See cases [RCV000143416] |
Chr16:15223052..18148856 [GRCh38]
Chr16:15316909..18242713 [GRCh37]
Chr16:15224410..18150214 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3 |
copy number gain |
See cases [RCV000143320] |
Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1 |
copy number loss |
See cases [RCV000143204] |
Chr16:15398450..18272881 [GRCh38]
Chr16:15492307..18366738 [GRCh37]
Chr16:15399808..18274239 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 |
copy number gain |
See cases [RCV000143143] |
Chr16:14783830..18536926 [GRCh38]
Chr16:14877687..18548248 [GRCh37]
Chr16:14785188..18455749 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1 |
copy number loss |
See cases [RCV000143230] |
Chr16:15355839..16294739 [GRCh38]
Chr16:15449696..16388596 [GRCh37]
Chr16:15357197..16296097 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3 |
copy number gain |
See cases [RCV000143165] |
Chr16:15222856..18148856 [GRCh38]
Chr16:15316713..18242713 [GRCh37]
Chr16:15224214..18150214 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1 |
copy number loss |
See cases [RCV000148070] |
Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14954894-16100721)x1 |
copy number loss |
See cases [RCV000148071] |
Chr16:14954894..16100721 [GRCh38]
Chr16:15048751..16194578 [GRCh37]
Chr16:14956252..16102079 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 |
copy number gain |
See cases [RCV000148077] |
Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 |
copy number gain |
See cases [RCV000143710] |
Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 |
copy number gain |
See cases [RCV000148067] |
Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3 |
copy number gain |
See cases [RCV000148068] |
Chr16:14816348..16100721 [GRCh38]
Chr16:14910205..16194578 [GRCh37]
Chr16:14817706..16102079 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3 |
copy number gain |
See cases [RCV000143608] |
Chr16:14794724..16404227 [GRCh38]
Chr16:14888581..16498084 [GRCh37]
Chr16:14796082..16405585 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.294A>C (p.Glu98Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000202901]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189910] |
Chr16:15837959 [GRCh38]
Chr16:15931816 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:15457445-16100721)x3 |
copy number gain |
See cases [RCV000148200] |
Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 |
copy number gain |
See cases [RCV000148105] |
Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 |
copy number gain |
See cases [RCV000148208] |
Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 |
copy number gain |
See cases [RCV000148146] |
Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 |
copy number gain |
See cases [RCV000148114] |
Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1 |
copy number loss |
See cases [RCV000148167] |
Chr16:15457445..16100721 [GRCh38]
Chr16:15551302..16194578 [GRCh37]
Chr16:15458803..16102079 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:14874998-16100721)x3 |
copy number gain |
See cases [RCV000148180] |
Chr16:14874998..16100721 [GRCh38]
Chr16:14968855..16194578 [GRCh37]
Chr16:14876356..16102079 [NCBI36]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000458059]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181078]|Marfan syndrome [RCV000157331]|not provided [RCV002223796] |
Chr16:15745153 [GRCh38]
Chr16:15839010 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000227161]|Connective tissue disorder [RCV000659922]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157332]|MYH11-related condition [RCV003917540]|not provided [RCV001311433]|not specified [RCV000417390] |
Chr16:15721026 [GRCh38]
Chr16:15814883 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001082621]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157333]|Isolated thoracic aortic aneurysm [RCV001374830]|MYH11-related condition [RCV003927518]|not provided [RCV000588245] |
Chr16:15720957 [GRCh38]
Chr16:15814814 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV000466385]|Congenital aneurysm of ascending aorta [RCV003228908]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157334]|not provided [RCV000254668] |
Chr16:15726938..15726940 [GRCh38]
Chr16:15820795..15820797 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NC_000016.10:g.(?_15703134)_(16223472_?)del |
deletion |
Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006946] |
Chr16:15703134..16223472 [GRCh38]
Chr16:15796991..16317329 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3651+5T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001082827]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171280]|not provided [RCV000176733] |
Chr16:15732559 [GRCh38]
Chr16:15826416 [GRCh37]
Chr16:16p13.11 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001079118]|Familial thoracic aortic aneurysm and aortic dissection [RCV000243852]|MYH11-related condition [RCV003937650]|not provided [RCV000589107] |
Chr16:15756358 [GRCh38]
Chr16:15850215 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2520+8C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001514340]|not specified [RCV000182466] |
Chr16:15745121 [GRCh38]
Chr16:15838978 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000697]|Connective tissue disorder [RCV000680556]|Familial thoracic aortic aneurysm and aortic dissection [RCV000246269]|not provided [RCV000228093]|not specified [RCV000182467] |
Chr16:15738655 [GRCh38]
Chr16:15832512 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000466280]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190663]|not provided [RCV001704870]|not specified [RCV002469048] |
Chr16:15732611 [GRCh38]
Chr16:15826468 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000547704]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184235]|not provided [RCV000182469] |
Chr16:15732604 [GRCh38]
Chr16:15826461 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3651+5_3651+11delinsG |
indel |
Aortic aneurysm, familial thoracic 4 [RCV000228545]|Cardiovascular phenotype [RCV000617147]|Familial thoracic aortic aneurysm and aortic dissection [RCV000182470]|not specified [RCV000589276] |
Chr16:15732553..15732559 [GRCh38]
Chr16:15826410..15826416 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3651+6_3651+11del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000473668]|Familial thoracic aortic aneurysm and aortic dissection [RCV000182471]|not provided [RCV003221840] |
Chr16:15732553..15732558 [GRCh38]
Chr16:15826410..15826415 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000699]|Familial thoracic aortic aneurysm and aortic dissection [RCV000241941]|Lissencephaly 4 [RCV001121349]|Lissencephaly, Recessive [RCV000336390]|not provided [RCV001812173]|not specified [RCV000182472] |
Chr16:15724902 [GRCh38]
Chr16:15818759 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321719]|not provided [RCV003236786] |
Chr16:15724695 [GRCh38]
Chr16:15818552 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.2(MYH11):c.4116+8delC |
deletion |
Thoracic aortic aneurysm and aortic dissection [RCV000182474]|Thoracic aortic aneurysms and aortic dissections [RCV000182474] |
Chr16:15724639 [GRCh38]
Chr16:15818496 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.*388del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000625464]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171277]|Lissencephaly 4 [RCV001195798]|not provided [RCV001701548]|not specified [RCV000251675] |
Chr16:15724636 [GRCh38]
Chr16:15818493 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_017668.3(NDE1):c.948-4058G>A |
single nucleotide variant |
not specified [RCV000182476] |
Chr16:15720133 [GRCh38]
Chr16:15813990 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-5740C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001121131]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771355]|Lissencephaly, Recessive [RCV000353968]|not specified [RCV000182477] |
Chr16:15718451 [GRCh38]
Chr16:15812308 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000239107]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244427]|Lissencephaly, Recessive [RCV000405397]|not provided [RCV000656918]|not specified [RCV001553753] |
Chr16:15718335 [GRCh38]
Chr16:15812192 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000553719]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178615]|MYH11-related condition [RCV003907636]|not specified [RCV000182479] |
Chr16:15717331 [GRCh38]
Chr16:15811188 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001027836]|Aortic aneurysm, familial thoracic 4 [RCV003224199]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185497]|Lissencephaly 4 [RCV001116103]|MYH11-related condition [RCV003398908]|not provided [RCV001704871] |
Chr16:15715249 [GRCh38]
Chr16:15809106 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.947+11989AG[2] |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV000545180]|Connective tissue disorder [RCV000680548]|Familial thoracic aortic aneurysm and aortic dissection [RCV000182481]|not provided [RCV003736625] |
Chr16:15708849..15708852 [GRCh38]
Chr16:15802706..15802709 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000234725]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770686]|not provided [RCV001579871]|not specified [RCV000249091] |
Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000462499]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778049]|not provided [RCV000857912] |
Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000771913]|not provided [RCV001726028]|not specified [RCV000182484] |
Chr16:15704114 [GRCh38]
Chr16:15797971 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625176]|Aortic aneurysm, familial thoracic 6 [RCV000211551]|Connective tissue disorder [RCV000680547]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253974]|Inborn genetic diseases [RCV002516856]|not provided [RCV001092816] |
Chr16:15704110 [GRCh38]
Chr16:15797967 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5873C>T (p.Thr1958Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186511]|not specified [RCV000182486] |
Chr16:15704037 [GRCh38]
Chr16:15797894 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.453G>A (p.Pro151=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000472086]|Cardiovascular phenotype [RCV000618000]|Familial thoracic aortic aneurysm and aortic dissection [RCV000248164]|not provided [RCV000586758]|not specified [RCV000182487] |
Chr16:15823304 [GRCh38]
Chr16:15917161 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.791-13C>G |
single nucleotide variant |
not specified [RCV000182489] |
Chr16:15776189 [GRCh38]
Chr16:15870046 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.988G>A (p.Val330Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000699161]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186510]|Inborn genetic diseases [RCV002515314]|not provided [RCV001721135] |
Chr16:15771614 [GRCh38]
Chr16:15865471 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1034-12T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094381]|Connective tissue disorder [RCV000680559]|Familial thoracic aortic aneurysm and aortic dissection [RCV000282466]|not provided [RCV001711350]|not specified [RCV000182491] |
Chr16:15763903 [GRCh38]
Chr16:15857760 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1575+8del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000234421]|Aortic aneurysm, familial thoracic 4 [RCV002503708]|Familial thoracic aortic aneurysm and aortic dissection [RCV000182492]|MYH11-related condition [RCV003955107]|not provided [RCV001729434]|not specified [RCV001375604] |
Chr16:15757819 [GRCh38]
Chr16:15851676 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1619G>A (p.Trp540Ter) |
single nucleotide variant |
not provided [RCV000182493] |
Chr16:15756471 [GRCh38]
Chr16:15850328 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.1763C>T (p.Ala588Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150055]|not provided [RCV000182494] |
Chr16:15753495 [GRCh38]
Chr16:15847352 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001049168]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186487]|not provided [RCV001721136]|not specified [RCV000182495] |
Chr16:15753490 [GRCh38]
Chr16:15847347 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000525615]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769673]|not provided [RCV000182497]|not specified [RCV001193457] |
Chr16:15748152 [GRCh38]
Chr16:15842009 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.2(MYH11):c.2488C>T (p.Arg830Trp) |
single nucleotide variant |
Thoracic aortic aneurysm and aortic dissection [RCV000182498]|Thoracic aortic aneurysms and aortic dissections [RCV000182498] |
Chr16:15745161 [GRCh38]
Chr16:15839018 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001085946]|Familial thoracic aortic aneurysm and aortic dissection [RCV000252519]|MYH11-related condition [RCV003927708]|not provided [RCV000182499]|not specified [RCV001199892] |
Chr16:15741764 [GRCh38]
Chr16:15835621 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000370727]|Aortic aneurysm, familial thoracic 4 [RCV002500538]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181530]|not provided [RCV000182500] |
Chr16:15741581 [GRCh38]
Chr16:15835438 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000234324]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178103]|not provided [RCV000182501]|not specified [RCV003323431] |
Chr16:15740155 [GRCh38]
Chr16:15834012 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000530492]|Aortic aneurysm, familial thoracic 4 [RCV002492809]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188125]|not provided [RCV000182502] |
Chr16:15737617 [GRCh38]
Chr16:15831474 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000701406]|Aortic aneurysm, familial thoracic 4 [RCV002492810]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778040]|not provided [RCV000182503] |
Chr16:15737461 [GRCh38]
Chr16:15831318 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001089156]|Cardiovascular phenotype [RCV000617637]|Familial thoracic aortic aneurysm and aortic dissection [RCV000249544]|MYH11-related condition [RCV003947544]|Marfan syndrome [RCV000583183]|not provided [RCV000182504]|not specified [RCV001193406] |
Chr16:15737451 [GRCh38]
Chr16:15831308 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000226763]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778041]|See cases [RCV002287384]|not provided [RCV000182505] |
Chr16:15735532 [GRCh38]
Chr16:15829389 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001226158]|Familial thoracic aortic aneurysm and aortic dissection [RCV000342815]|not provided [RCV000182506]|not specified [RCV001193407] |
Chr16:15732685 [GRCh38]
Chr16:15826542 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001082357]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777817]|not provided [RCV000182507]|not specified [RCV000780509] |
Chr16:15732653 [GRCh38]
Chr16:15826510 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000547917]|Aortic dilatation [RCV000581573]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776321]|not provided [RCV000182508] |
Chr16:15732652 [GRCh38]
Chr16:15826509 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3563G>T (p.Arg1188Leu) |
single nucleotide variant |
not provided [RCV000182509] |
Chr16:15732652 [GRCh38]
Chr16:15826509 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641596]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778042]|not provided [RCV000182511] |
Chr16:15726879 [GRCh38]
Chr16:15820736 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000459113]|Aortic aneurysm, familial thoracic 4 [RCV003224200]|Cardiovascular phenotype [RCV000182512]|Connective tissue disorder [RCV000680555]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769666]|Lissencephaly 4 [RCV001116425]|Lissencephaly, Recessive [RCV000398079]|MYH11-related condition [RCV003927709]|not provided [RCV000757516]|not specified [RCV000417389] |
Chr16:15724923 [GRCh38]
Chr16:15818780 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000822715]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184502]|not provided [RCV000182513]|not specified [RCV003330542] |
Chr16:15724919 [GRCh38]
Chr16:15818776 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641635]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171279]|MYH11-related condition [RCV003967450]|not provided [RCV001699146]|not specified [RCV000182514] |
Chr16:15724790 [GRCh38]
Chr16:15818647 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000699160]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192184]|Lissencephaly 4 [RCV001121346]|Lissencephaly, Recessive [RCV000288562]|not provided [RCV000182515] |
Chr16:15724747 [GRCh38]
Chr16:15818604 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.2(MYH11):c.4098C>G (p.Ile1366Met) |
single nucleotide variant |
Thoracic aortic aneurysm and aortic dissection [RCV000182516]|Thoracic aortic aneurysms and aortic dissections [RCV000182516] |
Chr16:15724665 [GRCh38]
Chr16:15818522 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001080924]|Connective tissue disorder [RCV000659918]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171276]|Lissencephaly 4 [RCV001116325]|MYH11-related condition [RCV003907637]|not provided [RCV000182517]|not specified [RCV000780512] |
Chr16:15724286 [GRCh38]
Chr16:15818143 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.980C>T (p.Ser327Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002478616]|Aortic aneurysm, familial thoracic 4 [RCV002517779]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771911]|not provided [RCV000182518] |
Chr16:15724223 [GRCh38]
Chr16:15818080 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001210362] |
Chr16:15721599 [GRCh38]
Chr16:15815456 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002492811]|Aortic aneurysm, familial thoracic 4 [RCV002516857]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769664]|not provided [RCV000182520] |
Chr16:15721597 [GRCh38]
Chr16:15815454 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4538T>A (p.Met1513Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002515315]|not provided [RCV000182521] |
Chr16:15721462 [GRCh38]
Chr16:15815319 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002478617]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186508]|not provided [RCV000182522] |
Chr16:15720913 [GRCh38]
Chr16:15814770 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001088950]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778043]|not provided [RCV000182523] |
Chr16:15720895 [GRCh38]
Chr16:15814752 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001852317]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181814]|not provided [RCV000182524] |
Chr16:15720278 [GRCh38]
Chr16:15814135 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000559002]|Aortic aneurysm, familial thoracic 4 [RCV002503709]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181815]|not provided [RCV000182525] |
Chr16:15719673 [GRCh38]
Chr16:15813530 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5093C>T (p.Ala1698Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002336453]|not provided [RCV000182526] |
Chr16:15719298 [GRCh38]
Chr16:15813155 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000230350]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185743]|not provided [RCV000182527] |
Chr16:15718341 [GRCh38]
Chr16:15812198 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001308821]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186484]|not provided [RCV000182529] |
Chr16:15717269 [GRCh38]
Chr16:15811126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001427315]|Connective tissue disorder [RCV000680551]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778044]|MYH11-related condition [RCV003927710]|not provided [RCV000182530] |
Chr16:15717194 [GRCh38]
Chr16:15811051 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) |
single nucleotide variant |
Abnormality of connective tissue [RCV002287385]|Aortic aneurysm, familial thoracic 4 [RCV001085729]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770691]|Inborn genetic diseases [RCV003352798]|not provided [RCV000589962]|not specified [RCV000182531] |
Chr16:15717145 [GRCh38]
Chr16:15811002 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5573T>G (p.Val1858Gly) |
single nucleotide variant |
not provided [RCV000182532] |
Chr16:15715204 [GRCh38]
Chr16:15809061 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514324]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185744]|not provided [RCV000182533] |
Chr16:15715196 [GRCh38]
Chr16:15809053 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001085094]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776147]|Isolated thoracic aortic aneurysm [RCV001374829]|Lissencephaly, Recessive [RCV000280640]|not provided [RCV000182534] |
Chr16:15715192 [GRCh38]
Chr16:15809049 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000814301]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771912]|not provided [RCV000182535] |
Chr16:15715029 [GRCh38]
Chr16:15808886 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003372642]|not provided [RCV000182536] |
Chr16:15714963 [GRCh38]
Chr16:15808820 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1017C>T (p.Ser339=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001086575]|Cardiovascular phenotype [RCV000244203]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771867]|MYH11-related condition [RCV003927703]|not provided [RCV000724062] |
Chr16:15771585 [GRCh38]
Chr16:15865442 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000796819]|Aortic aneurysm, familial thoracic 4 [RCV002485203]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186485]|not provided [RCV000756379] |
Chr16:15714928 [GRCh38]
Chr16:15808785 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.33G>C (p.Glu11Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002515316]|not provided [RCV000182538] |
Chr16:15838220 [GRCh38]
Chr16:15932077 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001852318]|Aortic aneurysm, familial thoracic 4 [RCV002485204]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185745]|not provided [RCV000182539] |
Chr16:15838159 [GRCh38]
Chr16:15932016 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000233878]|Cardiovascular phenotype [RCV000617853]|Connective tissue disorder [RCV000680562]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244088]|MYH11-related condition [RCV003967451]|not provided [RCV001572709]|not specified [RCV000182540] |
Chr16:15838036 [GRCh38]
Chr16:15931893 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.291C>G (p.Asn97Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001852319]|not provided [RCV000182541] |
Chr16:15837962 [GRCh38]
Chr16:15931819 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.301G>A (p.Val101Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116854]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778045]|not provided [RCV000182542]|not specified [RCV002222428] |
Chr16:15837952 [GRCh38]
Chr16:15931809 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.479C>T (p.Thr160Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000695944]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528150]|not provided [RCV000182543] |
Chr16:15823278 [GRCh38]
Chr16:15917135 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.508G>A (p.Glu170Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000818506]|not provided [RCV000182544] |
Chr16:15798682 [GRCh38]
Chr16:15892539 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.654+1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002485205]|Aortic aneurysm, familial thoracic 4 [RCV003105814]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804913]|not provided [RCV000182545] |
Chr16:15784697 [GRCh38]
Chr16:15878554 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.769G>A (p.Val257Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000231566]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778046]|not provided [RCV000182547] |
Chr16:15778801 [GRCh38]
Chr16:15872658 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.868G>C (p.Gly290Arg) |
single nucleotide variant |
not provided [RCV000182548] |
Chr16:15776099 [GRCh38]
Chr16:15869956 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000204065]|Connective tissue disorder [RCV000659902]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770694]|MYH11-related condition [RCV003967452]|not provided [RCV000857860]|not specified [RCV000182549] |
Chr16:15771688 [GRCh38]
Chr16:15865545 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.963G>C (p.Gln321His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185746]|not provided [RCV000182550] |
Chr16:15771639 [GRCh38]
Chr16:15865496 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.2(MYH11):c.1001C>A (p.Ala334Glu) |
single nucleotide variant |
Thoracic aortic aneurysm and aortic dissection [RCV000182551]|Thoracic aortic aneurysms and aortic dissections [RCV000182551] |
Chr16:15771601 [GRCh38]
Chr16:15865458 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1037T>C (p.Ile346Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001118190]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186486]|not provided [RCV000182552] |
Chr16:15763888 [GRCh38]
Chr16:15857745 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001208836]|Aortic aneurysm, familial thoracic 4 [RCV002485206]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170345]|not provided [RCV000182553]|not specified [RCV000455159] |
Chr16:15760586 [GRCh38]
Chr16:15854443 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.1502G>A (p.Arg501His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001499]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180812]|MYH11-related condition [RCV003967453]|not specified [RCV000182554] |
Chr16:15757900 [GRCh38]
Chr16:15851757 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1528G>A (p.Asp510Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002516858]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186509]|not provided [RCV000182555] |
Chr16:15757874 [GRCh38]
Chr16:15851731 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr) |
indel |
Aortic aneurysm, familial thoracic 4 [RCV003765124]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178104]|MYH11-related condition [RCV003398909]|not provided [RCV000254669] |
Chr16:15724284..15724286 [GRCh38]
Chr16:15818141..15818143 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4578+2dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000182557]|not provided [RCV000788304] |
Chr16:15721419..15721420 [GRCh38]
Chr16:15815276..15815277 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic |
| NM_002474.3(MYH11):c.1715A>G (p.Lys572Arg) |
single nucleotide variant |
not provided [RCV000182558] |
Chr16:15756375 [GRCh38]
Chr16:15850232 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000860965]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182255]|MYH11-related condition [RCV003937651]|not provided [RCV001721137] |
Chr16:15724349 [GRCh38]
Chr16:15818206 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4561G>A (p.Asp1521Asn) |
single nucleotide variant |
not provided [RCV000182560] |
Chr16:15721439 [GRCh38]
Chr16:15815296 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641597]|Aortic aneurysm, familial thoracic 4 [RCV002485207]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778047]|not provided [RCV000182561] |
Chr16:15720874 [GRCh38]
Chr16:15814731 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001087366]|Cardiovascular phenotype [RCV000249743]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180372]|not provided [RCV000182563]|not specified [RCV003323432] |
Chr16:15717251 [GRCh38]
Chr16:15811108 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000685931]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185747]|not provided [RCV000182564]|not specified [RCV003330543] |
Chr16:15717222 [GRCh38]
Chr16:15811079 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys) |
single nucleotide variant |
not provided [RCV000182565] |
Chr16:15714940 [GRCh38]
Chr16:15808797 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001069934]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778048]|not provided [RCV000182566] |
Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.281C>T (p.Thr94Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629104]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185748]|not provided [RCV000182567] |
Chr16:15837972 [GRCh38]
Chr16:15931829 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.632C>T (p.Thr211Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003114332]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185749]|not provided [RCV000182568] |
Chr16:15786631 [GRCh38]
Chr16:15880488 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3171A>T (p.Lys1057Asn) |
single nucleotide variant |
not provided [RCV000176549] |
Chr16:15737571 [GRCh38]
Chr16:15831428 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000185544]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804918]|not provided [RCV003221841] |
Chr16:15718397 [GRCh38]
Chr16:15812254 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001086574]|Cardiovascular phenotype [RCV000617092]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253552]|Lissencephaly, Recessive [RCV000350678]|MYH11-related condition [RCV003947511]|not provided [RCV000177982]|not specified [RCV001256804] |
Chr16:15715248 [GRCh38]
Chr16:15809105 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000456952]|Connective tissue disorder [RCV000659928]|Familial thoracic aortic aneurysm and aortic dissection [RCV000252424]|Lissencephaly, Recessive [RCV000390537]|MYH11-related condition [RCV003407656]|not provided [RCV000724061] |
Chr16:15715261 [GRCh38]
Chr16:15809118 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15494600-16327230)x1 |
copy number loss |
See cases [RCV000240127] |
Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000193616]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001449891] |
Chr16:15741512..15741513 [GRCh38]
Chr16:15835369..15835370 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000194899]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001449890] |
Chr16:15735402..15735450 [GRCh38]
Chr16:15829259..15829307 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15507184-16315198)x3 |
copy number gain |
See cases [RCV000240168] |
Chr16:15507184..16315198 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15730753-16276115)x3 |
copy number gain |
See cases [RCV000240086] |
Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_002474.3(MYH11):c.2099G>T (p.Arg700Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000204679] |
Chr16:15748128 [GRCh38]
Chr16:15841985 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000639]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186468]|not provided [RCV001579985]|not specified [RCV000244795] |
Chr16:15724329 [GRCh38]
Chr16:15818186 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2049C>T (p.His683=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000205608]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178105]|not provided [RCV000858214]|not specified [RCV000780513] |
Chr16:15750147 [GRCh38]
Chr16:15844004 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4438G>C (p.Glu1480Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000205760] |
Chr16:15721562 [GRCh38]
Chr16:15815419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2545C>T (p.Arg849Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001320281]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208319] |
Chr16:15741867 [GRCh38]
Chr16:15835724 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| Single allele |
duplication |
Intestinal malrotation [RCV000754987] |
Chr16:15491492..16292218 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207326] |
Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3 |
uncertain significance |
| NM_017668.3(NDE1):c.948-3357C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000232546]|Aortic aneurysm, familial thoracic 4 [RCV002503856]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191114]|not provided [RCV003387516]|not specified [RCV000221806] |
Chr16:15720834 [GRCh38]
Chr16:15814691 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1239A>G (p.Thr413=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001494787]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377855] |
Chr16:15760549 [GRCh38]
Chr16:15854406 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-5748G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641601]|Familial thoracic aortic aneurysm and aortic dissection [RCV000301425]|MYH11-related condition [RCV003907794]|not specified [RCV000222686] |
Chr16:15718443 [GRCh38]
Chr16:15812300 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3480C>T (p.Asp1160=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001432786]|not specified [RCV000221691] |
Chr16:15735392 [GRCh38]
Chr16:15829249 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000230642]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150135]|not provided [RCV001812640] |
Chr16:15757828 [GRCh38]
Chr16:15851685 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5371G>A (p.Glu1791Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000230804]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184025]|not provided [RCV001753691] |
Chr16:15717273 [GRCh38]
Chr16:15811130 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2541G>A (p.Val847=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000228617]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191542]|not provided [RCV001705249]|not specified [RCV000428668] |
Chr16:15741871 [GRCh38]
Chr16:15835728 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1914G>A (p.Ser638=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000231097]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298292]|MYH11-related condition [RCV003937886]|not specified [RCV000603459] |
Chr16:15750282 [GRCh38]
Chr16:15844139 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000232249]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187623]|not provided [RCV000520736] |
Chr16:15708828 [GRCh38]
Chr16:15802685 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001080935]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770685]|MYH11-related condition [RCV003955317]|not provided [RCV000228343]|not specified [RCV000482351] |
Chr16:15708829..15708830 [GRCh38]
Chr16:15802686..15802687 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.429G>A (p.Lys143=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001082555]|Connective tissue disorder [RCV000659900]|Familial thoracic aortic aneurysm and aortic dissection [RCV000249343]|not provided [RCV000513448]|not specified [RCV000253932] |
Chr16:15823328 [GRCh38]
Chr16:15917185 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1249-8CT[3] |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV001489992] |
Chr16:15759732..15759733 [GRCh38]
Chr16:15853589..15853590 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2841G>T (p.Lys947Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000231398] |
Chr16:15741481 [GRCh38]
Chr16:15835338 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1426A>G (p.Ile476Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000232835] |
Chr16:15757976 [GRCh38]
Chr16:15851833 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.669G>A (p.Pro223=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000228955]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177092] |
Chr16:15782442 [GRCh38]
Chr16:15876299 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2057G>C (p.Arg686Thr) |
single nucleotide variant |
not provided [RCV000757518] |
Chr16:15750139 [GRCh38]
Chr16:15843996 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001219857]|Aortic aneurysm, familial thoracic 4 [RCV002485955]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177358]|not provided [RCV000756381] |
Chr16:15717203 [GRCh38]
Chr16:15811060 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.534C>T (p.Gly178=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002533122]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178147]|not provided [RCV000756382] |
Chr16:15786729 [GRCh38]
Chr16:15880586 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4206G>A (p.Glu1402=) |
single nucleotide variant |
not provided [RCV000756383] |
Chr16:15724320 [GRCh38]
Chr16:15818177 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.-17G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000238648]|not provided [RCV001697687] |
Chr16:15838269 [GRCh38]
Chr16:15932126 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000459130]|Connective tissue disorder [RCV000659905]|Familial thoracic aortic aneurysm and aortic dissection [RCV000351501]|not provided [RCV000766530]|not specified [RCV000238920] |
Chr16:15750283 [GRCh38]
Chr16:15844140 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5874G>A (p.Thr1958=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187548]|not provided [RCV003326476] |
Chr16:15704036 [GRCh38]
Chr16:15797893 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5733G>A (p.Thr1911=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001454115]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186055] |
Chr16:15714962 [GRCh38]
Chr16:15808819 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15489920-18141051)x3 |
copy number gain |
See cases [RCV000240098] |
Chr16:15489920..18141051 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| NM_002474.3(MYH11):c.106G>A (p.Val36Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000772664] |
Chr16:15838147 [GRCh38]
Chr16:15932004 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15501629-16327230)x3 |
copy number gain |
See cases [RCV000239865] |
Chr16:15501629..16327230 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2367C>T (p.Val789=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001396942]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772666] |
Chr16:15747614 [GRCh38]
Chr16:15841471 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1440C>T (p.Asn480=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625466]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181628] |
Chr16:15757962 [GRCh38]
Chr16:15851819 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15494600-16327230)x3 |
copy number gain |
See cases [RCV000239980] |
Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15730753-16276115)x1 |
copy number loss |
See cases [RCV000239982] |
Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.300C>T (p.Ser100=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000546316]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777844]|not provided [RCV001706667]|not specified [RCV000781626] |
Chr16:15837953 [GRCh38]
Chr16:15931810 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.200A>G (p.Lys67Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001367514]|Aortic aneurysm, familial thoracic 4 [RCV002504606]|Familial thoracic aortic aneurysm and aortic dissection [RCV001806151]|not provided [RCV002051939] |
Chr16:15838053 [GRCh38]
Chr16:15931910 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 |
copy number loss |
See cases [RCV000239901] |
Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| NM_002474.3(MYH11):c.3244_3270del (p.Lys1082_Glu1090del) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314190] |
Chr16:15737472..15737498 [GRCh38]
Chr16:15831329..15831355 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14906734-16516109)x1 |
copy number loss |
See cases [RCV000511321] |
Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5076A>G (p.Leu1692=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001479279]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313403] |
Chr16:15719591 [GRCh38]
Chr16:15813448 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000476295]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777820]|not provided [RCV001711759]|not specified [RCV000401865] |
Chr16:15724287 [GRCh38]
Chr16:15818144 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.721C>A (p.Arg241=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000867954]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804984]|not specified [RCV000243634] |
Chr16:15782390 [GRCh38]
Chr16:15876247 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000473967]|Cardiovascular phenotype [RCV000246055]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184000]|not provided [RCV002223200] |
Chr16:15732596 [GRCh38]
Chr16:15826453 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.471C>T (p.Ile157=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000527026]|Familial thoracic aortic aneurysm and aortic dissection [RCV000248425]|not provided [RCV003736684]|not specified [RCV000615603] |
Chr16:15823286 [GRCh38]
Chr16:15917143 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3409G>T (p.Ala1137Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001344852]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183766]|not provided [RCV001582897] |
Chr16:15735463 [GRCh38]
Chr16:15829320 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3286C>A (p.Leu1096Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181621] |
Chr16:15737456 [GRCh38]
Chr16:15831313 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4012C>T (p.Leu1338=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002542379]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804320] |
Chr16:15724751 [GRCh38]
Chr16:15818608 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3776C>T (p.Ala1259Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001298068]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180048]|not provided [RCV001711764] |
Chr16:15726930 [GRCh38]
Chr16:15820787 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5595C>T (p.Ala1865=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001460334]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777863]|MYH11-related condition [RCV003920018]|not specified [RCV000421100] |
Chr16:15715182 [GRCh38]
Chr16:15809039 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2649G>A (p.Ser883=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000863633]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771989]|not specified [RCV000421824] |
Chr16:15741763 [GRCh38]
Chr16:15835620 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4774A>C (p.Arg1592=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000541486]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769661]|not provided [RCV001812761]|not specified [RCV000601705] |
Chr16:15720856 [GRCh38]
Chr16:15814713 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3651+7_3651+11del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001087508]|MYH11-related condition [RCV003935453]|not provided [RCV000585969] |
Chr16:15732553..15732557 [GRCh38]
Chr16:15826410..15826414 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| GRCh37/hg19 16p13.11(chr16:15494600-16292235)x1 |
copy number loss |
See cases [RCV000240260] |
Chr16:15494600..16292235 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001086354]|Familial thoracic aortic aneurysm and aortic dissection [RCV000243879]|not provided [RCV000533441] |
Chr16:15724941 [GRCh38]
Chr16:15818798 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001060702]|Aortic aneurysm, familial thoracic 4 [RCV002487148]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178592]|not provided [RCV002464155]|not specified [RCV001201316] |
Chr16:15721457 [GRCh38]
Chr16:15815314 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2000C>T (p.Thr667Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001312487]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190249]|not provided [RCV003409381] |
Chr16:15750196 [GRCh38]
Chr16:15844053 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1680C>T (p.His560=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001467326]|Cardiovascular phenotype [RCV000246526] |
Chr16:15756410 [GRCh38]
Chr16:15850267 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3432C>T (p.Leu1144=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001498369]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182485] |
Chr16:15735440 [GRCh38]
Chr16:15829297 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3651+5del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000541203]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771149]|MYH11-related condition [RCV003939920]|not provided [RCV001660388] |
Chr16:15732559 [GRCh38]
Chr16:15826416 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1056G>A (p.Ser352=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000529888]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186668]|MYH11-related condition [RCV003930025]|not provided [RCV001092825] |
Chr16:15763869 [GRCh38]
Chr16:15857726 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017668.3(NDE1):c.948-9293G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119047]|Familial thoracic aortic aneurysm and aortic dissection [RCV000367827]|Lissencephaly, Recessive [RCV000396051]|not provided [RCV001668454]|not specified [RCV000244318] |
Chr16:15714898 [GRCh38]
Chr16:15808755 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4083C>T (p.Asn1361=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001393023]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176605]|not specified [RCV000246734] |
Chr16:15724680 [GRCh38]
Chr16:15818537 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4884C>T (p.Asp1628=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000533300]|Cardiovascular phenotype [RCV000249185]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178607]|not specified [RCV000609422] |
Chr16:15720220 [GRCh38]
Chr16:15814077 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1318G>A (p.Val440Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000457086]|Cardiovascular phenotype [RCV000249195]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528161] |
Chr16:15759659 [GRCh38]
Chr16:15853516 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3379C>T (p.Leu1127=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629109]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180371] |
Chr16:15735493 [GRCh38]
Chr16:15829350 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15939427-15979664)x3 |
copy number gain |
See cases [RCV000240232] |
Chr16:15939427..15979664 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.99G>C (p.Lys33Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310861] |
Chr16:15838154 [GRCh38]
Chr16:15932011 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001220318]|Cardiovascular phenotype [RCV000244482]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528163] |
Chr16:15721628 [GRCh38]
Chr16:15815485 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1434C>T (p.Tyr478=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000875511]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184009] |
Chr16:15757968 [GRCh38]
Chr16:15851825 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641599]|Cardiovascular phenotype [RCV000246855]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179386]|not provided [RCV001547060]|not specified [RCV002469090] |
Chr16:15748129 [GRCh38]
Chr16:15841986 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.5652G>A (p.Arg1884=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000546663]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191105]|MYH11-related condition [RCV003897588]|not specified [RCV002229717] |
Chr16:15715043 [GRCh38]
Chr16:15808900 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1749+4C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000537087]|Aortic aneurysm, familial thoracic 4 [RCV002494787]|Cardiovascular phenotype [RCV000251770]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179394]|MYH11-related condition [RCV003930026]|not specified [RCV003155137] |
Chr16:15756337 [GRCh38]
Chr16:15850194 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4433C>G (p.Ala1478Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002295294]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311179] |
Chr16:15721567 [GRCh38]
Chr16:15815424 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.546C>T (p.Ala182=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641626]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244583]|MYH11-related condition [RCV003967683]|not provided [RCV001705383] |
Chr16:15786717 [GRCh38]
Chr16:15880574 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4000G>C (p.Val1334Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001298710]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310944] |
Chr16:15724763 [GRCh38]
Chr16:15818620 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641579]|Aortic aneurysm, familial thoracic 4 [RCV003224244]|Familial thoracic aortic aneurysm and aortic dissection [RCV000247069]|not provided [RCV001355711]|not specified [RCV002282089] |
Chr16:15823285 [GRCh38]
Chr16:15917142 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1115T>C (p.Met372Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249420] |
Chr16:15763810 [GRCh38]
Chr16:15857667 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000468598]|Familial thoracic aortic aneurysm and aortic dissection [RCV000249445]|Lissencephaly, Recessive [RCV000403795]|not provided [RCV002260632]|not specified [RCV001844102] |
Chr16:15720949 [GRCh38]
Chr16:15814806 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.948-3368C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002057429]|not specified [RCV000242335] |
Chr16:15720823 [GRCh38]
Chr16:15814680 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000554279]|Aortic aneurysm, familial thoracic 4 [RCV003224241]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175634]|Lissencephaly 4 [RCV001116426]|not provided [RCV000513032]|not specified [RCV000247203] |
Chr16:15724954 [GRCh38]
Chr16:15818811 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5360G>A (p.Arg1787Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184259] |
Chr16:15717284 [GRCh38]
Chr16:15811141 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15802662)_(15932115_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000258058] |
Chr16:15708805..15838258 [GRCh38]
Chr16:15802662..15932115 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14910205-16327230)x3 |
copy number gain |
See cases [RCV000240601] |
Chr16:14910205..16327230 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.758C>T (p.Thr253Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119742]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772092] |
Chr16:15778812 [GRCh38]
Chr16:15872669 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4920G>A (p.Arg1640=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001429952]|Cardiovascular phenotype [RCV000249759]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777866]|not provided [RCV001546206] |
Chr16:15720184 [GRCh38]
Chr16:15814041 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.811G>A (p.Ala271Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249833] |
Chr16:15776156 [GRCh38]
Chr16:15870013 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+11946G>C |
single nucleotide variant |
not specified [RCV000249844] |
Chr16:15708806 [GRCh38]
Chr16:15802663 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-4980G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001453691]|not specified [RCV000249853] |
Chr16:15719211 [GRCh38]
Chr16:15813068 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15489920-16327230)x3 |
copy number gain |
See cases [RCV000240480] |
Chr16:15489920..16327230 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3235G>T (p.Ala1079Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002518736]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804988]|not provided [RCV001570535] |
Chr16:15737507 [GRCh38]
Chr16:15831364 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000553332]|Cardiovascular phenotype [RCV000247569]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777865]|not provided [RCV001753734] |
Chr16:15715181 [GRCh38]
Chr16:15809038 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5364G>A (p.Gln1788=) |
single nucleotide variant |
not provided [RCV000487562] |
Chr16:15717280 [GRCh38]
Chr16:15811137 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2562G>A (p.Met854Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311189] |
Chr16:15741850 [GRCh38]
Chr16:15835707 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1220T>C (p.Val407Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000250073]|Aortic aneurysm, familial thoracic 4 [RCV002500947]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179391] |
Chr16:15760568 [GRCh38]
Chr16:15854425 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5742C>T (p.Asn1914=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001501687]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178167]|not provided [RCV000552427] |
Chr16:15714953 [GRCh38]
Chr16:15808810 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15507184-16306653)x3 |
copy number gain |
See cases [RCV000240297] |
Chr16:15507184..16306653 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.412A>T (p.Ile138Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000694241]|Aortic aneurysm, familial thoracic 4 [RCV002487158]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311148] |
Chr16:15823345 [GRCh38]
Chr16:15917202 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2475C>T (p.Ala825=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514342]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182477] |
Chr16:15745174 [GRCh38]
Chr16:15839031 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2997+14G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002057428]|not specified [RCV000248051] |
Chr16:15740037 [GRCh38]
Chr16:15833894 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 |
copy number gain |
See cases [RCV000240491] |
Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000556441]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769671]|not provided [RCV001579841]|not specified [RCV000249587] |
Chr16:15738584 [GRCh38]
Chr16:15832441 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2998-20C>T |
single nucleotide variant |
not specified [RCV000253032] |
Chr16:15738708 [GRCh38]
Chr16:15832565 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2692G>A (p.Ala898Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253046] |
Chr16:15741630 [GRCh38]
Chr16:15835487 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000471114]|Cardiovascular phenotype [RCV000617155]|Familial thoracic aortic aneurysm and aortic dissection [RCV000253105]|not provided [RCV001582893] |
Chr16:15726940 [GRCh38]
Chr16:15820797 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3358A>G (p.Ile1120Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253117]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528159] |
Chr16:15735514 [GRCh38]
Chr16:15829371 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1981C>G (p.Leu661Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000525858]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188124]|not provided [RCV003133331] |
Chr16:15750215 [GRCh38]
Chr16:15844072 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.2:c.5919+5C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000242360] |
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.4135A>C (p.Lys1379Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243370]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528162] |
Chr16:15724391 [GRCh38]
Chr16:15818248 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5511A>G (p.Lys1837=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000861429]|Cardiovascular phenotype [RCV000248390] |
Chr16:15715266 [GRCh38]
Chr16:15809123 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.190G>C (p.Glu64Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310940] |
Chr16:15838063 [GRCh38]
Chr16:15931920 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1389G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000371460]|Lissencephaly 4 [RCV001121426]|Lissencephaly, Recessive [RCV000281753] |
Chr16:15725640 [GRCh38]
Chr16:15819497 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.*1220G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000265333]|Lissencephaly 4 [RCV001119438]|Lissencephaly, Recessive [RCV000320384] |
Chr16:15725471 [GRCh38]
Chr16:15819328 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.*897_*898insC |
insertion |
Familial thoracic aortic aneurysm and aortic dissection [RCV000377565]|Lissencephaly, Recessive [RCV000283023] |
Chr16:15725148..15725149 [GRCh38]
Chr16:15819005..15819006 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3603C>G (p.His1201Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000283083]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177075]|not provided [RCV001570759] |
Chr16:15732612 [GRCh38]
Chr16:15826469 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000550987]|Familial thoracic aortic aneurysm and aortic dissection [RCV000301549]|Lissencephaly, Recessive [RCV000340220]|not provided [RCV001697743] |
Chr16:15718363 [GRCh38]
Chr16:15812220 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*1299A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000361189]|Lissencephaly 4 [RCV001121422]|Lissencephaly, Recessive [RCV000266563] |
Chr16:15725550 [GRCh38]
Chr16:15819407 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.*367T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000361011]|Lissencephaly 4 [RCV001119327]|Lissencephaly, Recessive [RCV000266356]|not provided [RCV001590945] |
Chr16:15724618 [GRCh38]
Chr16:15818475 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000705273]|Familial thoracic aortic aneurysm and aortic dissection [RCV000284825]|Lissencephaly, Recessive [RCV000337481]|not provided [RCV001795938]|not specified [RCV000507867] |
Chr16:15720840 [GRCh38]
Chr16:15814697 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000867923]|Familial thoracic aortic aneurysm and aortic dissection [RCV000285845]|MYH11-related condition [RCV003969895]|not provided [RCV001697664] |
Chr16:15720295 [GRCh38]
Chr16:15814152 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001458306]|Familial thoracic aortic aneurysm and aortic dissection [RCV000269365]|Lissencephaly, Recessive [RCV000326740]|not provided [RCV003422266] |
Chr16:15714923 [GRCh38]
Chr16:15808780 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.-88G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000288006]|not provided [RCV001672520] |
Chr16:15857011 [GRCh38]
Chr16:15950868 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.540T>C (p.Ser180=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094466]|Familial thoracic aortic aneurysm and aortic dissection [RCV000288604] |
Chr16:15786723 [GRCh38]
Chr16:15880580 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.947+6903A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117448]|Familial thoracic aortic aneurysm and aortic dissection [RCV000288704]|Lissencephaly, Recessive [RCV000322695] |
Chr16:15703763 [GRCh38]
Chr16:15797620 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6711G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001115993]|Familial thoracic aortic aneurysm and aortic dissection [RCV000367652]|Lissencephaly 4 [RCV000271239] |
Chr16:15703571 [GRCh38]
Chr16:15797428 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5277C>T (p.Val1759=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001081910]|Familial thoracic aortic aneurysm and aortic dissection [RCV000380933]|Lissencephaly, Recessive [RCV000288748]|not provided [RCV000762207]|not specified [RCV002271489] |
Chr16:15718333 [GRCh38]
Chr16:15812190 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*1723C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000407935]|Lissencephaly 4 [RCV001117985]|Lissencephaly, Recessive [RCV000289669] |
Chr16:15725974 [GRCh38]
Chr16:15819831 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000867986]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188868]|Lissencephaly, Recessive [RCV000272812]|MYH11-related condition [RCV003920342]|not provided [RCV001697754] |
Chr16:15720205 [GRCh38]
Chr16:15814062 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000543268]|Familial thoracic aortic aneurysm and aortic dissection [RCV000371369]|Lissencephaly, Recessive [RCV000274493]|not provided [RCV001311432]|not specified [RCV003323513] |
Chr16:15719297 [GRCh38]
Chr16:15813154 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641576]|Familial thoracic aortic aneurysm and aortic dissection [RCV000357063]|Lissencephaly, Recessive [RCV000259812]|MYH11-related condition [RCV003910208]|not provided [RCV002269268]|not specified [RCV003323510] |
Chr16:15717238 [GRCh38]
Chr16:15811095 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3831G>A (p.Glu1277=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000294719]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177406] |
Chr16:15726875 [GRCh38]
Chr16:15820732 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*202G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000191]|Lissencephaly 4 [RCV001117769]|Lissencephaly, Recessive [RCV000352419]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001775766]|Visceral myopathy 2 [RCV001775767]|not provided [RCV000831614] |
Chr16:15724453 [GRCh38]
Chr16:15818310 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5330G>A (p.Arg1777His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000699065]|Aortic aneurysm, familial thoracic 4 [RCV002487401]|Lissencephaly, Recessive [RCV000277615] |
Chr16:15717314 [GRCh38]
Chr16:15811171 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2058+10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000551624]|Familial thoracic aortic aneurysm and aortic dissection [RCV000279483] |
Chr16:15750128 [GRCh38]
Chr16:15843985 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.*899C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000378871]|Lissencephaly 4 [RCV001117878]|Lissencephaly, Recessive [RCV000279655]|not provided [RCV001530918] |
Chr16:15725150 [GRCh38]
Chr16:15819007 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_017668.3(NDE1):c.*2090T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000262544]|Lissencephaly 4 [RCV001119522]|Lissencephaly, Recessive [RCV000329809] |
Chr16:15726341 [GRCh38]
Chr16:15820198 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000891700]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179327]|Lissencephaly, Recessive [RCV000303212] |
Chr16:15717223 [GRCh38]
Chr16:15811080 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*897A>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000342741]|Lissencephaly 4 [RCV001116429] |
Chr16:15725148 [GRCh38]
Chr16:15819005 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.101G>C (p.Arg34Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000802770]|Aortic aneurysm, familial thoracic 4 [RCV002480046]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191557]|not provided [RCV000374025] |
Chr16:15838152 [GRCh38]
Chr16:15932009 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6469C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120914]|Familial thoracic aortic aneurysm and aortic dissection [RCV000343869]|Lissencephaly, Recessive [RCV000404577] |
Chr16:15703329 [GRCh38]
Chr16:15797186 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1784A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000344597]|Lissencephaly 4 [RCV001117986]|Lissencephaly, Recessive [RCV000403168] |
Chr16:15726035 [GRCh38]
Chr16:15819892 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.948-3135C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641587]|Familial thoracic aortic aneurysm and aortic dissection [RCV000367942]|Lissencephaly, Recessive [RCV000396166]|not provided [RCV001548504] |
Chr16:15721056 [GRCh38]
Chr16:15814913 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_001040114.1(MYH11):c.3880-158_3880-157dupGT |
duplication |
Thoracic aortic aneurysm and aortic dissection [RCV000272342] |
Chr16:15725149..15725150 [GRCh38]
Chr16:15819006..15819007 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1356T>A (p.Ala452=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000323724]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525487] |
Chr16:15759621 [GRCh38]
Chr16:15853478 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1249-15G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000260251] |
Chr16:15759743 [GRCh38]
Chr16:15853600 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4808C>T (p.Thr1603Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000324536]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177407] |
Chr16:15720296 [GRCh38]
Chr16:15814153 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-6833A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641609]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179331]|Lissencephaly, Recessive [RCV000347334]|not provided [RCV001560580]|not specified [RCV003323511] |
Chr16:15717358 [GRCh38]
Chr16:15811215 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5823G>A (p.Arg1941=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180284]|Lissencephaly, Recessive [RCV000396060]|not provided [RCV001815382] |
Chr16:15704087 [GRCh38]
Chr16:15797944 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*1981A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000360863]|Lissencephaly, Recessive [RCV000261345] |
Chr16:15726232 [GRCh38]
Chr16:15820089 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2481C>T (p.Leu827=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000272607] |
Chr16:15745168 [GRCh38]
Chr16:15839025 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117663]|Familial thoracic aortic aneurysm and aortic dissection [RCV000325499]|Lissencephaly, Recessive [RCV000382534] |
Chr16:15720283 [GRCh38]
Chr16:15814140 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000916250]|Familial thoracic aortic aneurysm and aortic dissection [RCV000326425] |
Chr16:15741657 [GRCh38]
Chr16:15835514 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*898del |
deletion |
Lissencephaly, Recessive [RCV000326097]|not provided [RCV001683279] |
Chr16:15725135 [GRCh38]
Chr16:15818992 [GRCh37]
Chr16:16p13.11 |
benign|uncertain significance |
| NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001121130]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769658]|Lissencephaly, Recessive [RCV000397601]|MYH11-related condition [RCV003940243]|not provided [RCV000460280]|not specified [RCV003323512] |
Chr16:15718384 [GRCh38]
Chr16:15812241 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.965G>A (p.Arg322His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328755]|not provided [RCV000311485] |
Chr16:15724208 [GRCh38]
Chr16:15818065 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*193G>A |
single nucleotide variant |
Lissencephaly 4 [RCV000373160] |
Chr16:15724444 [GRCh38]
Chr16:15818301 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.990G>A (p.Arg330=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001088915]|Familial thoracic aortic aneurysm and aortic dissection [RCV000374161]|not provided [RCV000512736]|not specified [RCV003401333] |
Chr16:15724233 [GRCh38]
Chr16:15818090 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.720A>T (p.Ser240=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000351909]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177408]|not provided [RCV000996227] |
Chr16:15782391 [GRCh38]
Chr16:15876248 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.948-3365C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001850683]|Aortic aneurysm, familial thoracic 4 [RCV002502237]|Familial thoracic aortic aneurysm and aortic dissection [RCV000376814]|not specified [RCV001532923] |
Chr16:15720826 [GRCh38]
Chr16:15814683 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.*1790T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000309696]|Lissencephaly 4 [RCV001117988] |
Chr16:15726041 [GRCh38]
Chr16:15819898 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*286G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000309971]|Lissencephaly 4 [RCV001117772]|Lissencephaly, Recessive [RCV000364700]|not provided [RCV003221913] |
Chr16:15724537 [GRCh38]
Chr16:15818394 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.-17-13C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000331364]|not provided [RCV001705475] |
Chr16:15838282 [GRCh38]
Chr16:15932139 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003765846]|Familial thoracic aortic aneurysm and aortic dissection [RCV000331709]|Lissencephaly, Recessive [RCV000386203]|not provided [RCV002263008] |
Chr16:15724689 [GRCh38]
Chr16:15818546 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.948-9103C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625462]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189397]|Lissencephaly, Recessive [RCV000378075]|not provided [RCV001706501] |
Chr16:15715088 [GRCh38]
Chr16:15808945 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000868555]|Familial thoracic aortic aneurysm and aortic dissection [RCV000404122]|not provided [RCV001572649]|not specified [RCV001797705] |
Chr16:15750317 [GRCh38]
Chr16:15844174 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*898dup |
duplication |
Lissencephaly, Recessive [RCV000275696]|not provided [RCV001613020] |
Chr16:15725134..15725135 [GRCh38]
Chr16:15818991..15818992 [GRCh37]
Chr16:16p13.11 |
benign|uncertain significance |
| NM_002474.3(MYH11):c.4663C>G (p.Leu1555Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094374]|Familial thoracic aortic aneurysm and aortic dissection [RCV000310958]|not provided [RCV000852382] |
Chr16:15720967 [GRCh38]
Chr16:15814824 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2010C>T (p.Asn670=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094461]|Familial thoracic aortic aneurysm and aortic dissection [RCV000311098]|MYH11-related condition [RCV003897728] |
Chr16:15750186 [GRCh38]
Chr16:15844043 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*863C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000311195]|Lissencephaly 4 [RCV001116428]|Lissencephaly, Recessive [RCV000370477] |
Chr16:15725114 [GRCh38]
Chr16:15818971 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.947+6587C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001115990]|Familial thoracic aortic aneurysm and aortic dissection [RCV000355802]|Lissencephaly 4 [RCV000397557] |
Chr16:15703447 [GRCh38]
Chr16:15797304 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.*896A>C |
single nucleotide variant |
Lissencephaly 4 [RCV000380757] |
Chr16:15725147 [GRCh38]
Chr16:15819004 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*238C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000405258]|Lissencephaly 4 [RCV001117770] |
Chr16:15724489 [GRCh38]
Chr16:15818346 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.*913A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000404818]|Lissencephaly 4 [RCV001117880]|Lissencephaly, Recessive [RCV000312653]|not provided [RCV001683280] |
Chr16:15725164 [GRCh38]
Chr16:15819021 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2802G>A (p.Glu934=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000456947]|Familial thoracic aortic aneurysm and aortic dissection [RCV000313767]|not provided [RCV001579989]|not specified [RCV003235191] |
Chr16:15741520 [GRCh38]
Chr16:15835377 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*943C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000405724]|Lissencephaly 4 [RCV001117882]|Lissencephaly, Recessive [RCV000313679] |
Chr16:15725194 [GRCh38]
Chr16:15819051 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3293+6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000868077]|Connective tissue disorder [RCV000659910]|Familial thoracic aortic aneurysm and aortic dissection [RCV000334746]|not provided [RCV001718663] |
Chr16:15737443 [GRCh38]
Chr16:15831300 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.465C>T (p.Tyr155=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000358862]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178131]|not provided [RCV003409495] |
Chr16:15823292 [GRCh38]
Chr16:15917149 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*1808T>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000359241]|Lissencephaly 4 [RCV001117989]|Lissencephaly, Recessive [RCV000394863] |
Chr16:15726059 [GRCh38]
Chr16:15819916 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4031A>T (p.Glu1344Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119329]|Familial thoracic aortic aneurysm and aortic dissection [RCV000277819]|Lissencephaly 4 [RCV000333031] |
Chr16:15724732 [GRCh38]
Chr16:15818589 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5886C>T (p.Asp1962=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000336573]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177076] |
Chr16:15704024 [GRCh38]
Chr16:15797881 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.947+7094G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000337665]|not provided [RCV001568494] |
Chr16:15703954 [GRCh38]
Chr16:15797811 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*1571A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000318097]|Lissencephaly 4 [RCV001116533]|Lissencephaly, Recessive [RCV000387409] |
Chr16:15725822 [GRCh38]
Chr16:15819679 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*593A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000339582]|Lissencephaly 4 [RCV001121348]|Lissencephaly, Recessive [RCV000404140] |
Chr16:15724844 [GRCh38]
Chr16:15818701 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6531C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120919]|Lissencephaly, Recessive [RCV000340527] |
Chr16:15703391 [GRCh38]
Chr16:15797248 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5761G>A (p.Val1921Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119049]|Familial thoracic aortic aneurysm and aortic dissection [RCV000360574]|Lissencephaly, Recessive [RCV000268264] |
Chr16:15714934 [GRCh38]
Chr16:15808791 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*947G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000363672]|Lissencephaly 4 [RCV001119432]|Lissencephaly, Recessive [RCV000396157]|not provided [RCV000834766] |
Chr16:15725198 [GRCh38]
Chr16:15819055 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1848C>T (p.Ala616=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641628]|Familial thoracic aortic aneurysm and aortic dissection [RCV000364210]|not specified [RCV000614042] |
Chr16:15753410 [GRCh38]
Chr16:15847267 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.-67C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000389344] |
Chr16:15856990 [GRCh38]
Chr16:15950847 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.2703G>T (p.Glu901Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000269150] |
Chr16:15741619 [GRCh38]
Chr16:15835476 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2392C>T (p.Arg798Cys) |
single nucleotide variant |
not provided [RCV000489246] |
Chr16:15747589 [GRCh38]
Chr16:15841446 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5062G>C (p.Asp1688His) |
single nucleotide variant |
not provided [RCV000585475] |
Chr16:15719605 [GRCh38]
Chr16:15813462 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4459_4464del (p.Ser1487_Leu1488del) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001853645]|not provided [RCV000523648] |
Chr16:15721536..15721541 [GRCh38]
Chr16:15815393..15815398 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2446A>T (p.Met816Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000532854] |
Chr16:15745203 [GRCh38]
Chr16:15839060 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5683C>T (p.Arg1895Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528284]|Isolated thoracic aortic aneurysm [RCV001374828] |
Chr16:15715012 [GRCh38]
Chr16:15808869 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.418G>A (p.Asp140Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000546818]|Aortic aneurysm, familial thoracic 4 [RCV002489194]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182996]|not provided [RCV000489819] |
Chr16:15823339 [GRCh38]
Chr16:15917196 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3 |
copy number gain |
not provided [RCV002292936] |
Chr16:15458733..18520588 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| NM_002474.3(MYH11):c.5411T>C (p.Met1804Thr) |
single nucleotide variant |
not provided [RCV000489932] |
Chr16:15717233 [GRCh38]
Chr16:15811090 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2198C>T (p.Ala733Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000554784]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191183]|not provided [RCV001552779] |
Chr16:15747926 [GRCh38]
Chr16:15841783 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-9294C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002064188]|not specified [RCV000602844] |
Chr16:15714897 [GRCh38]
Chr16:15808754 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2860-14C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001118081]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180588]|not specified [RCV000601258] |
Chr16:15740202 [GRCh38]
Chr16:15834059 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.2(MYH11):c.4116+111dupC |
duplication |
Thoracic aortic aneurysm and aortic dissection [RCV000345102] |
Chr16:15724536 [GRCh38]
Chr16:15818393 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.487C>T (p.Arg163Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002483732]|Aortic aneurysm, familial thoracic 4 [RCV002531833]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181328]|not provided [RCV002264963] |
Chr16:15823270 [GRCh38]
Chr16:15917127 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6327G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001118948]|Familial thoracic aortic aneurysm and aortic dissection [RCV000386491]|Lissencephaly, Recessive [RCV000292610] |
Chr16:15703187 [GRCh38]
Chr16:15797044 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*2030T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000316616]|Lissencephaly 4 [RCV001119521]|Lissencephaly, Recessive [RCV000357237] |
Chr16:15726281 [GRCh38]
Chr16:15820138 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4938G>A (p.Gln1646=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116221]|Familial thoracic aortic aneurysm and aortic dissection [RCV000331787]|Lissencephaly, Recessive [RCV000365465] |
Chr16:15720166 [GRCh38]
Chr16:15814023 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1663C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000293125]|Lissencephaly 4 [RCV001116535]|Lissencephaly, Recessive [RCV000352581] |
Chr16:15725914 [GRCh38]
Chr16:15819771 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1388C>T |
single nucleotide variant |
Lissencephaly 4 [RCV000316772] |
Chr16:15725639 [GRCh38]
Chr16:15819496 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6367C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120913]|Familial thoracic aortic aneurysm and aortic dissection [RCV000347509]|Lissencephaly, Recessive [RCV000383547] |
Chr16:15703227 [GRCh38]
Chr16:15797084 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*290dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000345102]|Lissencephaly, Recessive [RCV000402744] |
Chr16:15724535..15724536 [GRCh38]
Chr16:15818392..15818393 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*914A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000348852]|Lissencephaly 4 [RCV001117881] |
Chr16:15725165 [GRCh38]
Chr16:15819022 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2041C>T (p.Pro681Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001094460]|Familial thoracic aortic aneurysm and aortic dissection [RCV000403845] |
Chr16:15750155 [GRCh38]
Chr16:15844012 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4663C>T (p.Leu1555=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000528401]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183475] |
Chr16:15720967 [GRCh38]
Chr16:15814824 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2213A>G (p.Lys738Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000528525] |
Chr16:15747911 [GRCh38]
Chr16:15841768 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.727-11C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000294637] |
Chr16:15778854 [GRCh38]
Chr16:15872711 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.*259G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000294854]|Lissencephaly 4 [RCV001117771] |
Chr16:15724510 [GRCh38]
Chr16:15818367 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1958TTCCC[3] |
microsatellite |
Lissencephaly, Recessive [RCV000306150] |
Chr16:15726209..15726213 [GRCh38]
Chr16:15820066..15820070 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*919dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV000334823] |
Chr16:15725162..15725163 [GRCh38]
Chr16:15819019..15819020 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*559G>T |
single nucleotide variant |
Lissencephaly 4 [RCV000284528] |
Chr16:15724810 [GRCh38]
Chr16:15818667 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2997+10G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000368500]|not provided [RCV001636900] |
Chr16:15740041 [GRCh38]
Chr16:15833898 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3311C>T (p.Ala1104Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000406052] |
Chr16:15735561 [GRCh38]
Chr16:15829418 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3777G>A (p.Ala1259=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001443917]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177337]|MYH11-related condition [RCV003900175]|not provided [RCV000529096] |
Chr16:15726929 [GRCh38]
Chr16:15820786 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+6490G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000285589] |
Chr16:15703350 [GRCh38]
Chr16:15797207 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3858+480A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000388965] |
Chr16:15726368 [GRCh38]
Chr16:15820225 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6612A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001115991]|Familial thoracic aortic aneurysm and aortic dissection [RCV000297612]|Lissencephaly, Recessive [RCV000370972] |
Chr16:15703472 [GRCh38]
Chr16:15797329 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119048]|Familial thoracic aortic aneurysm and aortic dissection [RCV000309241]|Lissencephaly, Recessive [RCV000366285] |
Chr16:15714921 [GRCh38]
Chr16:15808778 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001121240]|Familial thoracic aortic aneurysm and aortic dissection [RCV000322936]|Lissencephaly, Recessive [RCV000361234] |
Chr16:15721580 [GRCh38]
Chr16:15815437 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.1(MYH11):c.-115delG |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV000392950]|not provided [RCV001683465] |
Chr16:15857038 [GRCh38]
Chr16:15950895 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1A>G (p.Met1Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000613766] |
Chr16:15838252 [GRCh38]
Chr16:15932109 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_017668.3(NDE1):c.*1155A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000310054]|Lissencephaly 4 [RCV001119435]|Lissencephaly, Recessive [RCV000364767] |
Chr16:15725406 [GRCh38]
Chr16:15819263 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1032A>G (p.Leu344=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001519544]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771437]|not specified [RCV000605048] |
Chr16:15771570 [GRCh38]
Chr16:15865427 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.947+6655_947+6656del |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV000276499]|Lissencephaly, Recessive [RCV000331611] |
Chr16:15703512..15703513 [GRCh38]
Chr16:15797369..15797370 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2860-8C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000553523]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805173] |
Chr16:15740196 [GRCh38]
Chr16:15834053 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15703971)_(15838272_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000531255] |
Chr16:15703971..15838272 [GRCh38]
Chr16:15797828..15932129 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.3462G>A (p.Glu1154=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001398522]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186057] |
Chr16:15735410 [GRCh38]
Chr16:15829267 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+7069_947+7073del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV000379522]|Lissencephaly, Recessive [RCV000282801]|not provided [RCV001590944] |
Chr16:15703926..15703930 [GRCh38]
Chr16:15797783..15797787 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.936T>A (p.Asn312Lys) |
single nucleotide variant |
not provided [RCV000523030] |
Chr16:15771666 [GRCh38]
Chr16:15865523 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4015C>A (p.Arg1339Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000772660] |
Chr16:15724748 [GRCh38]
Chr16:15818605 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6421_947+6422del |
deletion |
Lissencephaly, Recessive [RCV000289161] |
Chr16:15703280..15703281 [GRCh38]
Chr16:15797137..15797138 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1571G>A (p.Arg524Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000358623] |
Chr16:15757831 [GRCh38]
Chr16:15851688 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-6837G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119142]|Lissencephaly, Recessive [RCV000290095] |
Chr16:15717354 [GRCh38]
Chr16:15811211 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6554T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120920]|Familial thoracic aortic aneurysm and aortic dissection [RCV000397539]|Lissencephaly, Recessive [RCV000301091] |
Chr16:15703414 [GRCh38]
Chr16:15797271 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*899CA[8] |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV000272342]|Lissencephaly, Recessive [RCV000327659] |
Chr16:15725148..15725149 [GRCh38]
Chr16:15819005..15819006 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3856_3858+1dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001240145]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524374] |
Chr16:15726846..15726847 [GRCh38]
Chr16:15820703..15820704 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_017668.3(NDE1):c.*344C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000394725]|Lissencephaly 4 [RCV001119326]|Lissencephaly, Recessive [RCV000301766] |
Chr16:15724595 [GRCh38]
Chr16:15818452 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6742G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001115994]|Familial thoracic aortic aneurysm and aortic dissection [RCV000328589]|Lissencephaly, Recessive [RCV000380826] |
Chr16:15703602 [GRCh38]
Chr16:15797459 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5427G>C (p.Lys1809Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117539]|Lissencephaly, Recessive [RCV000361465] |
Chr16:15717217 [GRCh38]
Chr16:15811074 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3294-8C>T |
single nucleotide variant |
not specified [RCV000605995] |
Chr16:15735586 [GRCh38]
Chr16:15829443 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000768272]|Aortic aneurysm, familial thoracic 4 [RCV003224449]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189778] |
Chr16:15704067 [GRCh38]
Chr16:15797924 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2160C>T (p.Val720=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002420591]|not specified [RCV000606926] |
Chr16:15748067 [GRCh38]
Chr16:15841924 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3541_3542delinsGC (p.Lys1181Ala) |
indel |
Aortic aneurysm, familial thoracic 4 [RCV002532708]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528204]|not specified [RCV000598586] |
Chr16:15732673..15732674 [GRCh38]
Chr16:15826530..15826531 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.33G>T (p.Glu11Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000549599]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189673]|not provided [RCV001591235] |
Chr16:15838220 [GRCh38]
Chr16:15932077 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.817C>T (p.Arg273Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002481737]|not provided [RCV000522785] |
Chr16:15776150 [GRCh38]
Chr16:15870007 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3 |
copy number gain |
See cases [RCV000598738] |
Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.4661_4681dup (p.Glu1554_Asp1560dup) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000550126] |
Chr16:15720948..15720949 [GRCh38]
Chr16:15814805..15814806 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.726+1G>A |
single nucleotide variant |
not provided [RCV000578681] |
Chr16:15782384 [GRCh38]
Chr16:15876241 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.3654C>G (p.Ala1218=) |
single nucleotide variant |
not specified [RCV000587632] |
Chr16:15727052 [GRCh38]
Chr16:15820909 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-2774C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514382]|not specified [RCV000598736] |
Chr16:15721417 [GRCh38]
Chr16:15815274 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641583]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176308]|not provided [RCV003117448]|not specified [RCV001532984] |
Chr16:15724977 [GRCh38]
Chr16:15818834 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2997+8G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641610] |
Chr16:15740043 [GRCh38]
Chr16:15833900 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.391C>T (p.Leu131=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641612]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369685] |
Chr16:15823366 [GRCh38]
Chr16:15917223 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3438G>A (p.Glu1146=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641614] |
Chr16:15735434 [GRCh38]
Chr16:15829291 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2490G>A (p.Arg830=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641627] |
Chr16:15745159 [GRCh38]
Chr16:15839016 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4974A>G (p.Gln1658=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641641]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303031] |
Chr16:15719693 [GRCh38]
Chr16:15813550 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4 |
copy number gain |
See cases [RCV000598971] |
Chr16:15499057..18264837 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| NM_002474.3(MYH11):c.1301G>A (p.Arg434His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001208539]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528203]|not provided [RCV000586233] |
Chr16:15759676 [GRCh38]
Chr16:15853533 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000772502]|not provided [RCV000599264] |
Chr16:15708836 [GRCh38]
Chr16:15802693 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4460C>G (p.Ser1487Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000806378] |
Chr16:15721540 [GRCh38]
Chr16:15815397 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4015C>T (p.Arg1339Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000532371] |
Chr16:15724748 [GRCh38]
Chr16:15818605 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-9102G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625177]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188905]|not provided [RCV000586733] |
Chr16:15715089 [GRCh38]
Chr16:15808946 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5284G>A (p.Ala1762Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000529067] |
Chr16:15718326 [GRCh38]
Chr16:15812183 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002498875]|not specified [RCV000599500] |
Chr16:15704122 [GRCh38]
Chr16:15797979 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002287425]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185072]|Pulmonic stenosis [RCV000583280] |
Chr16:15726978 [GRCh38]
Chr16:15820835 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2139G>C (p.Gln713His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001853949]|Aortic aneurysm, familial thoracic 4 [RCV002491158]|Ehlers-Danlos syndrome, classic type [RCV000581663]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772062] |
Chr16:15748088 [GRCh38]
Chr16:15841945 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4203C>T (p.Ile1401=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000916671]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772670]|not provided [RCV002227187]|not specified [RCV000600218] |
Chr16:15724323 [GRCh38]
Chr16:15818180 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3722G>A (p.Arg1241Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001868126]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185529] |
Chr16:15726984 [GRCh38]
Chr16:15820841 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-39G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641584]|Stroke disorder [RCV002287432]|not provided [RCV001579861] |
Chr16:15724152 [GRCh38]
Chr16:15818009 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.948-3872G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641616]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190901] |
Chr16:15720319 [GRCh38]
Chr16:15814176 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.3999C>T (p.Asn1333=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001426024] |
Chr16:15724764 [GRCh38]
Chr16:15818621 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2166G>A (p.Gln722=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641632]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776398] |
Chr16:15748061 [GRCh38]
Chr16:15841918 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3969G>A (p.Leu1323=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629133]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165980]|not provided [RCV000731961] |
Chr16:15724794 [GRCh38]
Chr16:15818651 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5838_5839del (p.Arg1946fs) |
microsatellite |
not provided [RCV000733061] |
Chr16:15704071..15704072 [GRCh38]
Chr16:15797928..15797929 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000415645]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170802]|not provided [RCV000836072] |
Chr16:15708831 [GRCh38]
Chr16:15802688 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000415683]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184302]|not specified [RCV001193458] |
Chr16:15724729 [GRCh38]
Chr16:15818586 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000415719]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772071]|Isolated thoracic aortic aneurysm [RCV001374827]|not provided [RCV001555668] |
Chr16:15714963 [GRCh38]
Chr16:15808820 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.63C>T (p.Ile21=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000559591]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176067]|not provided [RCV001653898] |
Chr16:15838190 [GRCh38]
Chr16:15932047 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4360G>C (p.Asp1454His) |
single nucleotide variant |
Tricuspid regurgitation [RCV000414859] |
Chr16:15724166 [GRCh38]
Chr16:15818023 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.3844G>A (p.Val1282Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002476068]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528183]|not provided [RCV000522533] |
Chr16:15726862 [GRCh38]
Chr16:15820719 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000557522]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176125]|not provided [RCV002254933]|not specified [RCV000780515] |
Chr16:15719296 [GRCh38]
Chr16:15813153 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5092G>A (p.Ala1698Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000537463]|Aortic aneurysm, familial thoracic 4 [RCV002483421]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772099] |
Chr16:15719299 [GRCh38]
Chr16:15813156 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4533C>T (p.Ala1511=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000535564]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177342]|not provided [RCV001644647] |
Chr16:15721467 [GRCh38]
Chr16:15815324 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.709G>A (p.Asp237Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000538025]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179627] |
Chr16:15782402 [GRCh38]
Chr16:15876259 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| Single allele |
deletion |
16p13.11 recurrent microdeletion syndrome [RCV003221320] |
Chr16:14692101..16527136 [GRCh38]
Chr16:16p13.12-13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000541780]|Aortic aneurysm, familial thoracic 4 [RCV002497127]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180820]|not provided [RCV001775863] |
Chr16:15720924 [GRCh38]
Chr16:15814781 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4578+1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000550319]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150197]|not provided [RCV000412872] |
Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic |
| NM_002474.3(MYH11):c.5261C>T (p.Ala1754Val) |
single nucleotide variant |
not specified [RCV000412848] |
Chr16:15718349 [GRCh38]
Chr16:15812206 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2666A>C (p.Lys889Thr) |
single nucleotide variant |
not specified [RCV000412984] |
Chr16:15741656 [GRCh38]
Chr16:15835513 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4008G>A (p.Thr1336=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000558582]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525511] |
Chr16:15724755 [GRCh38]
Chr16:15818612 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1657C>T (p.Leu553=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000558760] |
Chr16:15756433 [GRCh38]
Chr16:15850290 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002481276]|Aortic aneurysm, familial thoracic 4 [RCV002523926]|Congenital aneurysm of ascending aorta [RCV001796026]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186935]|not provided [RCV000788983]|not specified [RCV000413701] |
Chr16:15747684 [GRCh38]
Chr16:15841541 [GRCh37]
Chr16:16p13.11 |
uncertain significance|not provided |
| NM_002474.3(MYH11):c.4603C>T (p.Arg1535Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000556757]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776309]|MYH11-related condition [RCV003418092]|not provided [RCV000788492]|not specified [RCV000414111] |
Chr16:15721027 [GRCh38]
Chr16:15814884 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3781G>A (p.Val1261Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000821186]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187659]|not specified [RCV000414197] |
Chr16:15726925 [GRCh38]
Chr16:15820782 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000533840]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183476]|not provided [RCV001584279] |
Chr16:15708817 [GRCh38]
Chr16:15802674 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15316618-18242712)x3 |
copy number gain |
See cases [RCV000449425] |
Chr16:15316618..18242712 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15422920-18181971)x1 |
copy number loss |
See cases [RCV000449218] |
Chr16:15422920..18181971 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14866283-16533890)x3 |
copy number gain |
See cases [RCV000449310] |
Chr16:14866283..16533890 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14866283-16494783)x1 |
copy number loss |
See cases [RCV000449476] |
Chr16:14866283..16494783 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14892713-16533890)x3 |
copy number gain |
See cases [RCV000447682] |
Chr16:14892713..16533890 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14892880-16533890)x1 |
copy number loss |
See cases [RCV000446976] |
Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15494600-16327171)x3 |
copy number gain |
See cases [RCV000446987] |
Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14897372-16495076)x1 |
copy number loss |
See cases [RCV000446228] |
Chr16:14897372..16495076 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14866283-16390970)x3 |
copy number gain |
See cases [RCV000446288] |
Chr16:14866283..16390970 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855348)x3 |
copy number gain |
See cases [RCV000446392] |
Chr16:14866283..16855348 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14910205-16586870)x3 |
copy number gain |
See cases [RCV000446726] |
Chr16:14910205..16586870 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 |
copy number gain |
See cases [RCV000447011] |
Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15193982-18172468)x3 |
copy number gain |
See cases [RCV000447066] |
Chr16:15193982..18172468 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:14899958-16519467)x3 |
copy number gain |
See cases [RCV000446766] |
Chr16:14899958..16519467 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15418908-16388596)x3 |
copy number gain |
See cases [RCV000446781] |
Chr16:15418908..16388596 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14897243-16516109)x3 |
copy number gain |
See cases [RCV000447511] |
Chr16:14897243..16516109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15489920-16292181)x3 |
copy number gain |
See cases [RCV000447647] |
Chr16:15489920..16292181 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000698929]|Congenital aneurysm of ascending aorta [RCV001796029]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188909]|not provided [RCV000762208] |
Chr16:15718434 [GRCh38]
Chr16:15812291 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000556988]|Congenital aneurysm of ascending aorta [RCV001796028]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314119] |
Chr16:15721604 [GRCh38]
Chr16:15815461 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5817C>A (p.Pro1939=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001491812]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528171]|not provided [RCV000865199] |
Chr16:15708832 [GRCh38]
Chr16:15802689 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3309C>T (p.Ile1103=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116636]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187596]|MYH11-related condition [RCV003897846]|not specified [RCV000427236] |
Chr16:15735563 [GRCh38]
Chr16:15829420 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.831C>T (p.Asp277=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000900651]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184485]|MYH11-related condition [RCV003912640]|not specified [RCV000441304] |
Chr16:15776136 [GRCh38]
Chr16:15869993 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| GRCh37/hg19 16p13.11(chr16:14906734-16498084)x1 |
copy number loss |
See cases [RCV000445845] |
Chr16:14906734..16498084 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3195C>T (p.Ser1065=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001393022]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182760]|not specified [RCV000427571] |
Chr16:15737547 [GRCh38]
Chr16:15831404 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.708C>T (p.Asn236=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000869906]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180311]|not provided [RCV001712383] |
Chr16:15782403 [GRCh38]
Chr16:15876260 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.1865-16T>G |
single nucleotide variant |
not specified [RCV000434417] |
Chr16:15750347 [GRCh38]
Chr16:15844204 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2342A>T (p.Glu781Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000553732] |
Chr16:15747639 [GRCh38]
Chr16:15841496 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1503C>T (p.Arg501=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001241823]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769676]|not specified [RCV000424172] |
Chr16:15757899 [GRCh38]
Chr16:15851756 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4659C>T (p.Asp1553=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000535083]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771851]|MYH11-related condition [RCV003932650]|not provided [RCV003311814]|not specified [RCV000427691] |
Chr16:15720971 [GRCh38]
Chr16:15814828 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1326A>G (p.Lys442=) |
single nucleotide variant |
not specified [RCV000431426] |
Chr16:15759651 [GRCh38]
Chr16:15853508 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2998-20C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002524779]|not specified [RCV000438139] |
Chr16:15738708 [GRCh38]
Chr16:15832565 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.947+11924G>A |
single nucleotide variant |
not provided [RCV001721282] |
Chr16:15708784 [GRCh38]
Chr16:15802641 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*172G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002059745]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189154]|not specified [RCV000424393] |
Chr16:15724423 [GRCh38]
Chr16:15818280 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1576-15A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514354]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176881]|not specified [RCV000424460] |
Chr16:15756529 [GRCh38]
Chr16:15850386 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+7118T>C |
single nucleotide variant |
not specified [RCV000431717] |
Chr16:15703978 [GRCh38]
Chr16:15797835 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.11(chr16:14928345-16294403)x3 |
copy number gain |
See cases [RCV000445858] |
Chr16:14928345..16294403 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15489920-16327171)x3 |
copy number gain |
See cases [RCV000445864] |
Chr16:15489920..16327171 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1503C>G (p.Arg501=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001485587]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187667]|not specified [RCV000418389] |
Chr16:15757899 [GRCh38]
Chr16:15851756 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4345A>C (p.Lys1449Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000771986]|not provided [RCV000421159] |
Chr16:15724181 [GRCh38]
Chr16:15818038 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5157T>C (p.Ser1719=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514366]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168702]|not specified [RCV000424581] |
Chr16:15719234 [GRCh38]
Chr16:15813091 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1413C>T (p.Phe471=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001483671]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177685]|not provided [RCV000866180] |
Chr16:15757989 [GRCh38]
Chr16:15851846 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.4236G>A (p.Ala1412=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001450306]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191921]|not specified [RCV000421440] |
Chr16:15724290 [GRCh38]
Chr16:15818147 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1576-9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000544435]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191100]|not specified [RCV000428370] |
Chr16:15756523 [GRCh38]
Chr16:15850380 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1566C>T (p.Ile522=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001464401]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524330]|not specified [RCV000442611] |
Chr16:15757836 [GRCh38]
Chr16:15851693 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3134G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000469493]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188361]|Stroke disorder [RCV002254695]|not specified [RCV000418874] |
Chr16:15721057 [GRCh38]
Chr16:15814914 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.405G>A (p.Ser135=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000691795]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179310]|not provided [RCV000996229]|not specified [RCV003114539] |
Chr16:15823352 [GRCh38]
Chr16:15917209 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.948-7057G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000805610]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772000]|not specified [RCV000432004] |
Chr16:15717134 [GRCh38]
Chr16:15810991 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.2412-8C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528169]|not specified [RCV000419075] |
Chr16:15745245 [GRCh38]
Chr16:15839102 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.2076G>A (p.Ala692=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001465804]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182766]|not provided [RCV001698297] |
Chr16:15748151 [GRCh38]
Chr16:15842008 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+17C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001865351]|not specified [RCV000425441] |
Chr16:15757810 [GRCh38]
Chr16:15851667 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1923C>T (p.Ser641=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001482246]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187595]|not provided [RCV001720070] |
Chr16:15750273 [GRCh38]
Chr16:15844130 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-4055C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002521687]|not specified [RCV000432515] |
Chr16:15720136 [GRCh38]
Chr16:15813993 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+3A>G |
single nucleotide variant |
not specified [RCV000436043] |
Chr16:15759573 [GRCh38]
Chr16:15853430 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3669C>T (p.Asp1223=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001442532]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188681]|not specified [RCV000443137] |
Chr16:15727037 [GRCh38]
Chr16:15820894 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.948-3873C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805040]|not provided [RCV001718852] |
Chr16:15720318 [GRCh38]
Chr16:15814175 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.633+1900G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625180]|Aortic aneurysm, familial thoracic 4 [RCV002502530]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191118]|not provided [RCV001703812]|not specified [RCV000425729] |
Chr16:15784730 [GRCh38]
Chr16:15878587 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1575+3G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000705658]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526226]|not specified [RCV000443503] |
Chr16:15757824 [GRCh38]
Chr16:15851681 [GRCh37]
Chr16:16p13.11 |
benign|uncertain significance |
| NM_002474.3(MYH11):c.3927C>T (p.Asp1309=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000459838]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177603]|not provided [RCV001703466] |
Chr16:15724924 [GRCh38]
Chr16:15818781 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2157C>T (p.Ile719=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001410279]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184316]|not provided [RCV001704311] |
Chr16:15748070 [GRCh38]
Chr16:15841927 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2157C>A (p.Ile719=) |
single nucleotide variant |
not provided [RCV003884534]|not specified [RCV000440008] |
Chr16:15748070 [GRCh38]
Chr16:15841927 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2599C>A (p.Arg867=) |
single nucleotide variant |
not specified [RCV000420043] |
Chr16:15741813 [GRCh38]
Chr16:15835670 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3168G>A (p.Leu1056=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001085430]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177347]|not specified [RCV000420063] |
Chr16:15737574 [GRCh38]
Chr16:15831431 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.346-16G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002062627]|Aortic aneurysm, familial thoracic 4 [RCV002506039]|not specified [RCV000422569] |
Chr16:15823427 [GRCh38]
Chr16:15917284 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3684G>A (p.Thr1228=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001493387]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348205]|not specified [RCV000426189] |
Chr16:15727022 [GRCh38]
Chr16:15820879 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1749+17C>T |
single nucleotide variant |
not specified [RCV000429874] |
Chr16:15756324 [GRCh38]
Chr16:15850181 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5053T>C (p.Leu1685=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001798811]|not specified [RCV000440116] |
Chr16:15719614 [GRCh38]
Chr16:15813471 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4374C>T (p.Ala1458=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000934946]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180316]|not specified [RCV000440146] |
Chr16:15721626 [GRCh38]
Chr16:15815483 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1764G>C (p.Ala588=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001505325]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182756]|not specified [RCV000426361] |
Chr16:15753494 [GRCh38]
Chr16:15847351 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.503-9T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001087776]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772002]|not provided [RCV000727424] |
Chr16:15798696 [GRCh38]
Chr16:15892553 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.459C>T (p.His153=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514355]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177692]|not specified [RCV000433264] |
Chr16:15823298 [GRCh38]
Chr16:15917155 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-2788A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002061441]|Aortic aneurysm, familial thoracic 4 [RCV002481300]|not provided [RCV001796035]|not specified [RCV000440485] |
Chr16:15721403 [GRCh38]
Chr16:15815260 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4680C>T (p.Asp1560=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000548494]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183481]|not provided [RCV000420131] |
Chr16:15720950 [GRCh38]
Chr16:15814807 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.726+7A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000548388]|not specified [RCV000423080] |
Chr16:15782378 [GRCh38]
Chr16:15876235 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+8G>A |
single nucleotide variant |
not specified [RCV000423096] |
Chr16:15757819 [GRCh38]
Chr16:15851676 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000466635]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769669]|MYH11-related condition [RCV003950358]|not provided [RCV001311435]|not specified [RCV000437026] |
Chr16:15732684 [GRCh38]
Chr16:15826541 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.585G>A (p.Leu195=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001395688]|Connective tissue disorder [RCV000680561]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177604]|not provided [RCV000470394] |
Chr16:15786678 [GRCh38]
Chr16:15880535 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.57C>T (p.Asn19=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000530279]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777830]|not provided [RCV001702370]|not specified [RCV000423216] |
Chr16:15838196 [GRCh38]
Chr16:15932053 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_017668.3(NDE1):c.947+7112C>T |
single nucleotide variant |
not specified [RCV000423263] |
Chr16:15703972 [GRCh38]
Chr16:15797829 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+7G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641640]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798803]|not provided [RCV001579625]|not specified [RCV000430367] |
Chr16:15757820 [GRCh38]
Chr16:15851677 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|uncertain significance |
| NM_002474.3(MYH11):c.-26T>A |
single nucleotide variant |
not specified [RCV000440984] |
Chr16:15856949 [GRCh38]
Chr16:15950806 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2742G>A (p.Ala914=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001373839]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525719]|not provided [RCV001531231] |
Chr16:15741580 [GRCh38]
Chr16:15835437 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1527C>T (p.Ile509=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000862256]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191927]|not provided [RCV001712285] |
Chr16:15757875 [GRCh38]
Chr16:15851732 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1185C>G (p.Ser395=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001392555]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180309]|not provided [RCV000863192] |
Chr16:15760603 [GRCh38]
Chr16:15854460 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2520+7G>T |
single nucleotide variant |
not specified [RCV000430660] |
Chr16:15745122 [GRCh38]
Chr16:15838979 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2653-18C>T |
single nucleotide variant |
not specified [RCV000441097] |
Chr16:15741687 [GRCh38]
Chr16:15835544 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-9C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641638]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171285]|not provided [RCV001704430] |
Chr16:15745246 [GRCh38]
Chr16:15839103 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5586C>G (p.Arg1862=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000872257]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772017]|not specified [RCV000444708] |
Chr16:15715191 [GRCh38]
Chr16:15809048 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15193982-18191725)x3 |
copy number gain |
See cases [RCV000448998] |
Chr16:15193982..18191725 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:14888582-16855348)x3 |
copy number gain |
See cases [RCV000448024] |
Chr16:14888582..16855348 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15539023-16291541) |
copy number gain |
Abnormal esophagus morphology [RCV000416782] |
Chr16:15539023..16291541 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855477)x3 |
copy number gain |
See cases [RCV000448548] |
Chr16:14866283..16855477 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:14985615-17000304) |
copy number gain |
Abnormal esophagus morphology [RCV000416828] |
Chr16:14985615..17000304 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15034035-15998820) |
copy number gain |
Abnormal esophagus morphology [RCV000416924] |
Chr16:15034035..15998820 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15420069-16388596)x1 |
copy number loss |
See cases [RCV000447918] |
Chr16:15420069..16388596 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15449696-16391910)x3 |
copy number gain |
See cases [RCV000447927] |
Chr16:15449696..16391910 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14897243-16527476)x3 |
copy number gain |
See cases [RCV000447712] |
Chr16:14897243..16527476 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15180601)_(18778866_?)dup |
duplication |
Schizophrenia [RCV000416672] |
Chr16:15180601..18778866 [GRCh37]
Chr16:15088102..18686367 [NCBI36]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14892880-16533107)x3 |
copy number gain |
See cases [RCV000448293] |
Chr16:14892880..16533107 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15318653)_(16292712_?)dup |
duplication |
Schizophrenia [RCV000416779] |
Chr16:15318653..16292712 [GRCh38]
Chr16:15412510..16386569 [GRCh37]
Chr16:15320011..16294070 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15481747-16390970)x3 |
copy number gain |
See cases [RCV000448300] |
Chr16:15481747..16390970 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15481920-16388244)x1 |
copy number loss |
See cases [RCV000448658] |
Chr16:15481920..16388244 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 |
copy number loss |
See cases [RCV000448849] |
Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NC_000016.10:g.(?_15031901)_(16512853_?)dup |
duplication |
Schizophrenia [RCV000416863] |
Chr16:15031901..16512853 [GRCh38]
Chr16:15125758..16606710 [GRCh37]
Chr16:15033259..16514211 [NCBI36]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15054174-16327476)x3 |
copy number gain |
See cases [RCV000447738] |
Chr16:15054174..16327476 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NC_000016.10:g.(?_15330513)_(16443434_?)del |
deletion |
Schizophrenia [RCV000416922] |
Chr16:15330513..16443434 [GRCh38]
Chr16:15424370..16537291 [GRCh37]
Chr16:15331871..16444792 [NCBI36]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:14866283-16858476)x3 |
copy number gain |
See cases [RCV000448589] |
Chr16:14866283..16858476 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14905705-16391045)x1 |
copy number loss |
See cases [RCV000447968] |
Chr16:14905705..16391045 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15494600-16327171)x1 |
copy number loss |
See cases [RCV000448453] |
Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14900182-16519932)x3 |
copy number gain |
See cases [RCV000448468] |
Chr16:14900182..16519932 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.53A>G (p.Lys18Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000474049]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179119]|not provided [RCV001584132] |
Chr16:15838200 [GRCh38]
Chr16:15932057 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2445C>T (p.Ala815=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000457287]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178869] |
Chr16:15745204 [GRCh38]
Chr16:15839061 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.840A>T (p.Thr280=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000474178]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184001] |
Chr16:15776127 [GRCh38]
Chr16:15869984 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4035G>A (p.Arg1345=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000474332] |
Chr16:15724728 [GRCh38]
Chr16:15818585 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000463204]|Bicuspid aortic valve [RCV000584422]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171281] |
Chr16:15732655 [GRCh38]
Chr16:15826512 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4912A>G (p.Lys1638Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000463352]|not provided [RCV002223208] |
Chr16:15720192 [GRCh38]
Chr16:15814049 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4517A>G (p.Asn1506Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000467014]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185792] |
Chr16:15721483 [GRCh38]
Chr16:15815340 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3778C>T (p.Gln1260Ter) |
single nucleotide variant |
not specified [RCV000454521] |
Chr16:15726928 [GRCh38]
Chr16:15820785 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5165C>T (p.Ser1722Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000471059]|Aortic aneurysm, familial thoracic 4 [RCV002502614]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177372] |
Chr16:15719226 [GRCh38]
Chr16:15813083 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2049C>A (p.His683Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000474612]|not provided [RCV003441866] |
Chr16:15750147 [GRCh38]
Chr16:15844004 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4484C>T (p.Ala1495Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000469486]|Inborn genetic diseases [RCV002523290] |
Chr16:15721516 [GRCh38]
Chr16:15815373 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.78C>G (p.Ala26=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001473196]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418446] |
Chr16:15838175 [GRCh38]
Chr16:15932032 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.964C>T (p.Arg322Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002496878]|Aortic aneurysm, familial thoracic 4 [RCV002525971]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191587]|not provided [RCV000480228] |
Chr16:15724207 [GRCh38]
Chr16:15818064 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1013_1015del (p.Phe338_Ser339delinsCys) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000456357] |
Chr16:15771587..15771589 [GRCh38]
Chr16:15865444..15865446 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.654C>T (p.Tyr218=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000460015]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184031] |
Chr16:15784698 [GRCh38]
Chr16:15878555 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NC_000016.9:g.(?_15796992)_(15932126_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000463773] |
Chr16:15703135..15838269 [GRCh38]
Chr16:15796992..15932126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.488G>A (p.Arg163Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000467496]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805062]|not provided [RCV001775804] |
Chr16:15823269 [GRCh38]
Chr16:15917126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-7058C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000467498]|not provided [RCV000858945] |
Chr16:15717133 [GRCh38]
Chr16:15810990 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1989G>A (p.Lys663=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000471225]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180047]|not specified [RCV000612035] |
Chr16:15750207 [GRCh38]
Chr16:15844064 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NC_000016.10:g.(?_15708803)_(15838269_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000471265] |
Chr16:15708803..15838269 [GRCh38]
Chr16:15802660..15932126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3443T>A (p.Leu1148Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000475016]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179121] |
Chr16:15735429 [GRCh38]
Chr16:15829286 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3754C>T (p.His1252Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000475802]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348278] |
Chr16:15726952 [GRCh38]
Chr16:15820809 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2828C>A (p.Ala943Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000659907]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524971]|not provided [RCV000484577] |
Chr16:15741494 [GRCh38]
Chr16:15835351 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4662G>A (p.Glu1554=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000456372]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485585]|not provided [RCV001591111] |
Chr16:15720968 [GRCh38]
Chr16:15814825 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.912C>T (p.Phe304=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001452000]|not specified [RCV000508010] |
Chr16:15771690 [GRCh38]
Chr16:15865547 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000460220]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181129]|not specified [RCV003330691] |
Chr16:15753435 [GRCh38]
Chr16:15847292 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NC_000016.9:g.(?_15802660)_(15932126_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000475324] |
Chr16:15708803..15838269 [GRCh38]
Chr16:15802660..15932126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2015C>T (p.Thr672Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000475365]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179122] |
Chr16:15750181 [GRCh38]
Chr16:15844038 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3842A>T (p.Lys1281Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000475519] |
Chr16:15726864 [GRCh38]
Chr16:15820721 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4993C>T (p.Arg1665Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000475772]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769659]|not provided [RCV000523310] |
Chr16:15719674 [GRCh38]
Chr16:15813531 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5396G>C (p.Ser1799Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000475948]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189405] |
Chr16:15717248 [GRCh38]
Chr16:15811105 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4632G>C (p.Met1544Ile) |
single nucleotide variant |
not provided [RCV000481463] |
Chr16:15720998 [GRCh38]
Chr16:15814855 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5767G>T (p.Ala1923Ser) |
single nucleotide variant |
not provided [RCV000485735] |
Chr16:15714928 [GRCh38]
Chr16:15808785 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.1002C>T (p.Ser334=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001481264] |
Chr16:15724245 [GRCh38]
Chr16:15818102 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3633G>C (p.Gln1211His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000461173] |
Chr16:15732582 [GRCh38]
Chr16:15826439 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3821C>G (p.Ala1274Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000464790] |
Chr16:15726885 [GRCh38]
Chr16:15820742 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2292G>T (p.Gly764=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000464854]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181140] |
Chr16:15747689 [GRCh38]
Chr16:15841546 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3001C>T (p.Arg1001Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184325]|not provided [RCV000485034] |
Chr16:15738685 [GRCh38]
Chr16:15832542 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.1402-6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000457627] |
Chr16:15758006 [GRCh38]
Chr16:15851863 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001081156]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771372]|not provided [RCV000755579]|not specified [RCV001844167] |
Chr16:15714999 [GRCh38]
Chr16:15808856 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000461579]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188142]|not specified [RCV001192750] |
Chr16:15737618 [GRCh38]
Chr16:15831475 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000461626]|Aortic aneurysm, familial thoracic 4 [RCV002489014]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180578]|not provided [RCV001556383]|not specified [RCV000506086] |
Chr16:15717308 [GRCh38]
Chr16:15811165 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.282G>T (p.Thr94=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001502252] |
Chr16:15837971 [GRCh38]
Chr16:15931828 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-2553C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001505768]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524817] |
Chr16:15721638 [GRCh38]
Chr16:15815495 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3651+20_3651+32del |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV002056770]|not specified [RCV000486565] |
Chr16:15732532..15732544 [GRCh38]
Chr16:15826389..15826401 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189159]|not provided [RCV000486651] |
Chr16:15704023 [GRCh38]
Chr16:15797880 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.4078C>G (p.Gln1360Glu) |
single nucleotide variant |
not provided [RCV000523136] |
Chr16:15724685 [GRCh38]
Chr16:15818542 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4834C>T (p.Arg1612Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002475955]|Aortic aneurysm, familial thoracic 4 [RCV002526963]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805103]|not provided [RCV000478064] |
Chr16:15720270 [GRCh38]
Chr16:15814127 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001089216]|Connective tissue disorder [RCV000659929]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777832]|not provided [RCV000478153]|not specified [RCV003235238] |
Chr16:15715060 [GRCh38]
Chr16:15808917 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2442C>T (p.Thr814=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001396133]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772076]|not specified [RCV003987545] |
Chr16:15745207 [GRCh38]
Chr16:15839064 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4110C>T (p.Asn1370=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001453726] |
Chr16:15724653 [GRCh38]
Chr16:15818510 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9287_948-9285del |
microsatellite |
not specified [RCV000482888] |
Chr16:15714901..15714903 [GRCh38]
Chr16:15808758..15808760 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2237C>G (p.Ala746Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000462297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429480]|not provided [RCV002281091]|not specified [RCV003323544] |
Chr16:15747887 [GRCh38]
Chr16:15841744 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3930G>A (p.Val1310=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001459880]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805088]|not provided [RCV000762210] |
Chr16:15724921 [GRCh38]
Chr16:15818778 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4418G>T (p.Arg1473Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002496879]|Aortic aneurysm, familial thoracic 4 [RCV002526988]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329164]|not provided [RCV000478696] |
Chr16:15721582 [GRCh38]
Chr16:15815439 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001346748]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350080]|not provided [RCV000478759]|not specified [RCV001375555] |
Chr16:15717159 [GRCh38]
Chr16:15811016 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1354G>A (p.Ala452Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002525955]|Familial thoracic aortic aneurysm and aortic dissection [RCV002383934]|not provided [RCV000483026] |
Chr16:15759623 [GRCh38]
Chr16:15853480 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2199G>A (p.Ala733=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001456802]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772075]|not provided [RCV000458702] |
Chr16:15747925 [GRCh38]
Chr16:15841782 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3198C>G (p.Asp1066Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000469986]|Aortic aneurysm, familial thoracic 4 [RCV002481387]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769670] |
Chr16:15737544 [GRCh38]
Chr16:15831401 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5396G>A (p.Ser1799Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000470016]|not provided [RCV003326433] |
Chr16:15717248 [GRCh38]
Chr16:15811105 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3228G>A (p.Ala1076=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000470119]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772080]|not provided [RCV001672781]|not specified [RCV000781628] |
Chr16:15737514 [GRCh38]
Chr16:15831371 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| GRCh37/hg19 16p13.11(chr16:14866284-16544419)x1 |
copy number loss |
See cases [RCV000510365] |
Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3853C>G (p.Leu1285Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002481591]|Aortic aneurysm, familial thoracic 4 [RCV002527148]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314857]|not provided [RCV000498793] |
Chr16:15726853 [GRCh38]
Chr16:15820710 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15449696-16328840)x3 |
copy number gain |
See cases [RCV000510529] |
Chr16:15449696..16328840 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 |
copy number gain |
not provided [RCV000509488] |
Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3 |
not provided |
| GRCh37/hg19 16p13.11(chr16:14893032-16533107)x3 |
copy number gain |
See cases [RCV000510233] |
Chr16:14893032..16533107 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15766250)_(16185056_?)del |
deletion |
Pseudoxanthoma elasticum [RCV000499142] |
Chr16:15766250..16185056 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3209A>G (p.Gln1070Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002527149]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188963]|not provided [RCV000497365] |
Chr16:15737533 [GRCh38]
Chr16:15831390 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14866284-16544419)x3 |
copy number gain |
See cases [RCV000510618] |
Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.119C>T (p.Ser40Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001346448]|Aortic aneurysm, familial thoracic 4 [RCV002475987]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188968]|not provided [RCV000498548] |
Chr16:15838134 [GRCh38]
Chr16:15931991 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14888582-16544419)x3 |
copy number gain |
See cases [RCV000511651] |
Chr16:14888582..16544419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3817C>T (p.Arg1273Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000803349]|Aortic aneurysm, familial thoracic 4 [RCV002489208]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183001]|Inborn genetic diseases [RCV003159598]|not provided [RCV000494070] |
Chr16:15726889 [GRCh38]
Chr16:15820746 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14896385-16519643)x1 |
copy number loss |
See cases [RCV000511661] |
Chr16:14896385..16519643 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.444C>T (p.His148=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001430861]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189161]|not provided [RCV000641618]|not specified [RCV000506120] |
Chr16:15823313 [GRCh38]
Chr16:15917170 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| GRCh37/hg19 16p13.11(chr16:15450289-16544419)x3 |
copy number gain |
See cases [RCV000511929] |
Chr16:15450289..16544419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 |
copy number gain |
See cases [RCV000511683] |
Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15481920-18181971)x1 |
copy number loss |
See cases [RCV000511758] |
Chr16:15481920..18181971 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15936927-16288889)x1 |
copy number loss |
See cases [RCV000511576] |
Chr16:15936927..16288889 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3 |
uncertain significance |
| NM_002474.3(MYH11):c.2181-39C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000506841]|not provided [RCV000830225] |
Chr16:15747982 [GRCh38]
Chr16:15841839 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.11(chr16:14866283-16516109)x3 |
copy number gain |
See cases [RCV000511420] |
Chr16:14866283..16516109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14900182-16533242)x3 |
copy number gain |
See cases [RCV000511709] |
Chr16:14900182..16533242 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14906734-16330672)x1 |
copy number loss |
See cases [RCV000511713] |
Chr16:14906734..16330672 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14892880-16529801)x3 |
copy number gain |
See cases [RCV000511718] |
Chr16:14892880..16529801 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14888582-16391910)x3 |
copy number gain |
See cases [RCV000511990] |
Chr16:14888582..16391910 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14899630-16458353)x1 |
copy number loss |
See cases [RCV000511863] |
Chr16:14899630..16458353 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15449696-16391909)x3 |
copy number gain |
See cases [RCV000511947] |
Chr16:15449696..16391909 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4628A>C (p.Glu1543Ala) |
single nucleotide variant |
not specified [RCV000508152] |
Chr16:15721002 [GRCh38]
Chr16:15814859 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14897625-16391910)x1 |
copy number loss |
See cases [RCV000512040] |
Chr16:14897625..16391910 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 |
copy number loss |
See cases [RCV000510875] |
Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15049968-16218828)x3 |
copy number gain |
See cases [RCV000511016] |
Chr16:15049968..16218828 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14866284-16391910)x3 |
copy number gain |
See cases [RCV000511064] |
Chr16:14866284..16391910 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15449696-16319630)x1 |
copy number loss |
See cases [RCV000510829] |
Chr16:15449696..16319630 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3845T>C (p.Val1282Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313400] |
Chr16:15726861 [GRCh38]
Chr16:15820718 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15509728-16330672)x1 |
copy number loss |
See cases [RCV000510841] |
Chr16:15509728..16330672 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14866283-16529801)x3 |
copy number gain |
See cases [RCV000511276] |
Chr16:14866283..16529801 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14906845-16515901)x1 |
copy number loss |
See cases [RCV000510780] |
Chr16:14906845..16515901 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15449696-16514368)x1 |
copy number loss |
See cases [RCV000511286] |
Chr16:15449696..16514368 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14892914-16529555)x3 |
copy number gain |
See cases [RCV000511004] |
Chr16:14892914..16529555 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14893385-16544419)x3 |
copy number gain |
See cases [RCV000510967] |
Chr16:14893385..16544419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3756T>G (p.His1252Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000555730]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177630] |
Chr16:15726950 [GRCh38]
Chr16:15820807 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1344T>C (p.His448=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000533943]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384144]|not specified [RCV000587301] |
Chr16:15759633 [GRCh38]
Chr16:15853490 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4002G>T (p.Val1334=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301234] |
Chr16:15724761 [GRCh38]
Chr16:15818618 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2846C>T (p.Ala949Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301235] |
Chr16:15741476 [GRCh38]
Chr16:15835333 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3968T>C (p.Leu1323Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301236] |
Chr16:15724795 [GRCh38]
Chr16:15818652 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4262C>T (p.Thr1421Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313409] |
Chr16:15724264 [GRCh38]
Chr16:15818121 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5886C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000538805] |
Chr16:15718305 [GRCh38]
Chr16:15812162 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.-33C>G |
single nucleotide variant |
not specified [RCV000604192] |
Chr16:15856956 [GRCh38]
Chr16:15950813 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2823A>G (p.Leu941=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313399] |
Chr16:15741499 [GRCh38]
Chr16:15835356 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3293+7G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000534548] |
Chr16:15737442 [GRCh38]
Chr16:15831299 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3157C>T (p.Leu1053=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189938] |
Chr16:15737585 [GRCh38]
Chr16:15831442 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2227G>A (p.Gly743Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003296019] |
Chr16:15747897 [GRCh38]
Chr16:15841754 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176897]|Wolff-Parkinson-White pattern [RCV000656148] |
Chr16:15704013 [GRCh38]
Chr16:15797870 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3152A>G (p.Gln1051Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187544]|not provided [RCV003235311]|not specified [RCV001293464] |
Chr16:15737590 [GRCh38]
Chr16:15831447 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5275G>T (p.Val1759Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313407] |
Chr16:15718335 [GRCh38]
Chr16:15812192 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5215G>A (p.Ala1739Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000536102]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178597]|not provided [RCV000658208] |
Chr16:15718395 [GRCh38]
Chr16:15812252 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4007C>T (p.Thr1336Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313398] |
Chr16:15724756 [GRCh38]
Chr16:15818613 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001248212]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179343]|not provided [RCV001764732]|not specified [RCV001193455] |
Chr16:15724694 [GRCh38]
Chr16:15818551 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1666G>A (p.Glu556Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313408] |
Chr16:15756424 [GRCh38]
Chr16:15850281 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_002474.3(MYH11):c.502+9A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001423791]|MYH11-related condition [RCV003945481]|not specified [RCV000606205] |
Chr16:15823246 [GRCh38]
Chr16:15917103 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14975292-16301530) |
copy number gain |
not provided [RCV000767574] |
Chr16:14975292..16301530 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15493046-16291983) |
copy number loss |
not provided [RCV000767580] |
Chr16:15493046..16291983 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_002474.3(MYH11):c.4872G>A (p.Gly1624=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002532749]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190496]|not specified [RCV000606444] |
Chr16:15720232 [GRCh38]
Chr16:15814089 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3694G>C (p.Glu1232Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000541013] |
Chr16:15727012 [GRCh38]
Chr16:15820869 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.633+3G>A |
single nucleotide variant |
not provided [RCV003312333] |
Chr16:15786627 [GRCh38]
Chr16:15880484 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2947C>T (p.Leu983=) |
single nucleotide variant |
not specified [RCV000601188] |
Chr16:15740101 [GRCh38]
Chr16:15833958 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.668C>T (p.Pro223Leu) |
single nucleotide variant |
not provided [RCV003327788] |
Chr16:15782443 [GRCh38]
Chr16:15876300 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3430C>A (p.Leu1144Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000537706] |
Chr16:15735442 [GRCh38]
Chr16:15829299 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-3361A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000556325] |
Chr16:15720830 [GRCh38]
Chr16:15814687 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-4626C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002529648]|not specified [RCV000603269] |
Chr16:15719565 [GRCh38]
Chr16:15813422 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2016G>A (p.Thr672=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001392131]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772674]|not specified [RCV000601377] |
Chr16:15750180 [GRCh38]
Chr16:15844037 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2001G>A (p.Thr667=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001415228]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524474] |
Chr16:15750195 [GRCh38]
Chr16:15844052 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.6G>A (p.Ala2=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000862456]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170348]|MYH11-related condition [RCV003965283]|not provided [RCV001704776] |
Chr16:15838247 [GRCh38]
Chr16:15932104 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1567G>C (p.Glu523Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000624317] |
Chr16:15757835 [GRCh38]
Chr16:15851692 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3204C>T (p.His1068=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002060672]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772647]|not specified [RCV003987625] |
Chr16:15737538 [GRCh38]
Chr16:15831395 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4638G>A (p.Thr1546=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001464911]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189936] |
Chr16:15720992 [GRCh38]
Chr16:15814849 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4306T>G (p.Leu1436Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003305457] |
Chr16:15724220 [GRCh38]
Chr16:15818077 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3396C>T (p.Ala1132=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000915325]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313406]|not specified [RCV001293503] |
Chr16:15735476 [GRCh38]
Chr16:15829333 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5684G>A (p.Arg1895His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002491327]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179345] |
Chr16:15715011 [GRCh38]
Chr16:15808868 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-4464C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002066680]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191327]|not specified [RCV000607422] |
Chr16:15719727 [GRCh38]
Chr16:15813584 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3235G>A (p.Ala1079Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002289907]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181381] |
Chr16:15737507 [GRCh38]
Chr16:15831364 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3858+14G>C |
single nucleotide variant |
not specified [RCV000607805] |
Chr16:15726834 [GRCh38]
Chr16:15820691 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2059-1G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301226] |
Chr16:15748169 [GRCh38]
Chr16:15842026 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5121C>T (p.Asp1707=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301227] |
Chr16:15719270 [GRCh38]
Chr16:15813127 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1793C>T (p.Pro598Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301228] |
Chr16:15753465 [GRCh38]
Chr16:15847322 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3829G>A (p.Glu1277Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301229] |
Chr16:15726877 [GRCh38]
Chr16:15820734 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5198G>A (p.Arg1733His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301231] |
Chr16:15718412 [GRCh38]
Chr16:15812269 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3115C>A (p.Leu1039Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301233] |
Chr16:15738571 [GRCh38]
Chr16:15832428 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.272C>T (p.Ala91Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641588]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524938] |
Chr16:15837981 [GRCh38]
Chr16:15931838 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3673A>C (p.Asn1225His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641594] |
Chr16:15727033 [GRCh38]
Chr16:15820890 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2554G>C (p.Glu852Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003304979] |
Chr16:15741858 [GRCh38]
Chr16:15835715 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 |
copy number gain |
See cases [RCV000512194] |
Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3 |
pathogenic |
| NM_002474.3(MYH11):c.3651+7C>G |
single nucleotide variant |
not specified [RCV000609653] |
Chr16:15732557 [GRCh38]
Chr16:15826414 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9300G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002064332]|not specified [RCV000609716] |
Chr16:15714891 [GRCh38]
Chr16:15808748 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1402-14C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116743]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180590]|not specified [RCV000612452] |
Chr16:15758014 [GRCh38]
Chr16:15851871 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2733G>A (p.Val911=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002066679]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190449]|not specified [RCV000612470] |
Chr16:15741589 [GRCh38]
Chr16:15835446 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.1990C>G (p.Leu664Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000536873]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528191] |
Chr16:15750206 [GRCh38]
Chr16:15844063 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1110G>T (p.Ala370=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629128]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313396] |
Chr16:15763815 [GRCh38]
Chr16:15857672 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5214C>T (p.Ile1738=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001455572]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176358]|not provided [RCV000926775] |
Chr16:15718396 [GRCh38]
Chr16:15812253 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3379C>G (p.Leu1127Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000559707]|Aortic aneurysm, familial thoracic 4 [RCV002497126]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302831] |
Chr16:15735493 [GRCh38]
Chr16:15829350 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3039A>G (p.Thr1013=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641602]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189667]|not provided [RCV001815351] |
Chr16:15738647 [GRCh38]
Chr16:15832504 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4728C>G (p.Phe1576Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000706681]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185564] |
Chr16:15720902 [GRCh38]
Chr16:15814759 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3507-5C>A |
single nucleotide variant |
not specified [RCV000610062] |
Chr16:15732713 [GRCh38]
Chr16:15826570 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+11989AG[3] |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV001088491]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771863]|not provided [RCV000728024] |
Chr16:15708849..15708850 [GRCh38]
Chr16:15802706..15802707 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5338G>T (p.Ala1780Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001242216]|Aortic aneurysm, familial thoracic 4 [RCV002491328]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185276] |
Chr16:15717306 [GRCh38]
Chr16:15811163 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3612G>A (p.Ala1204=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000866140]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189939]|MYH11-related condition [RCV003935731]|not provided [RCV003884668] |
Chr16:15732603 [GRCh38]
Chr16:15826460 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5760G>A (p.Glu1920=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001404996]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186533]|MYH11-related condition [RCV003905657]|not specified [RCV000613011] |
Chr16:15714935 [GRCh38]
Chr16:15808792 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1282A>G (p.Thr428Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000560186]|Aortic aneurysm, familial thoracic 4 [RCV002483420] |
Chr16:15759695 [GRCh38]
Chr16:15853552 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4353G>A (p.Arg1451=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313397] |
Chr16:15724173 [GRCh38]
Chr16:15818030 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5451G>A (p.Ala1817=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001860285]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160091]|not specified [RCV000610387] |
Chr16:15717193 [GRCh38]
Chr16:15811050 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3683C>T (p.Thr1228Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001860399]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524888]|not provided [RCV002307562] |
Chr16:15727023 [GRCh38]
Chr16:15820880 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5328G>A (p.Glu1776=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002066880]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343169]|not provided [RCV001712705] |
Chr16:15717316 [GRCh38]
Chr16:15811173 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3271G>C (p.Glu1091Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000560768] |
Chr16:15737471 [GRCh38]
Chr16:15831328 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4674G>A (p.Thr1558=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000538273]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186897]|not specified [RCV000608746] |
Chr16:15720956 [GRCh38]
Chr16:15814813 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+12000C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002066681]|not specified [RCV000613360] |
Chr16:15708860 [GRCh38]
Chr16:15802717 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9092del |
deletion |
not specified [RCV000616688] |
Chr16:15715099 [GRCh38]
Chr16:15808956 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000870698]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181800]|not provided [RCV001697957] |
Chr16:15717190 [GRCh38]
Chr16:15811047 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.-18+20C>T |
single nucleotide variant |
not specified [RCV000616834] |
Chr16:15856921 [GRCh38]
Chr16:15950778 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3227C>T (p.Ala1076Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641580]|Aortic aneurysm, familial thoracic 4 [RCV002507093]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190899]|not provided [RCV002263878] |
Chr16:15737515 [GRCh38]
Chr16:15831372 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2789G>A (p.Arg930His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641586]|Aortic aneurysm, familial thoracic 4 [RCV002499077]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176624] |
Chr16:15741533 [GRCh38]
Chr16:15835390 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2653-7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641621]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190902]|not specified [RCV002222574] |
Chr16:15741676 [GRCh38]
Chr16:15835533 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2860-5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002530003]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440286] |
Chr16:15740193 [GRCh38]
Chr16:15834050 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017668.3(NDE1):c.948-3126G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000659921]|Connective tissue disorder [RCV000680554]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180294]|not provided [RCV001811110]|not specified [RCV000611015] |
Chr16:15721065 [GRCh38]
Chr16:15814922 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2340G>A (p.Glu780=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001431383]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448699]|MYH11-related condition [RCV003962519] |
Chr16:15747641 [GRCh38]
Chr16:15841498 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 |
copy number gain |
See cases [RCV000511360] |
Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2 |
pathogenic |
| NM_002474.3(MYH11):c.2653-6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641605]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177326]|not specified [RCV000611162] |
Chr16:15741675 [GRCh38]
Chr16:15835532 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.503-18T>C |
single nucleotide variant |
not specified [RCV000608610] |
Chr16:15798705 [GRCh38]
Chr16:15892562 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3282G>A (p.Ala1094=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001479128]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805217]|MYH11-related condition [RCV003892389]|not provided [RCV001698441] |
Chr16:15737460 [GRCh38]
Chr16:15831317 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2421C>T (p.Ala807=) |
single nucleotide variant |
not specified [RCV000614195] |
Chr16:15745228 [GRCh38]
Chr16:15839085 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3891C>T (p.Asn1297=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001438015]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771853]|not provided [RCV000539543] |
Chr16:15724960 [GRCh38]
Chr16:15818817 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2757G>A (p.Glu919=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629121]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181557]|not provided [RCV001697557] |
Chr16:15741565 [GRCh38]
Chr16:15835422 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1806C>T (p.Asn602=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002066628]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181387]|not specified [RCV000604163] |
Chr16:15753452 [GRCh38]
Chr16:15847309 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.502+13A>G |
single nucleotide variant |
not specified [RCV000611966] |
Chr16:15823242 [GRCh38]
Chr16:15917099 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2998-18_2998-15del |
deletion |
not specified [RCV000612087] |
Chr16:15738703..15738706 [GRCh38]
Chr16:15832560..15832563 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2112G>A (p.Val704=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001086323]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178110]|not provided [RCV000540330]|not specified [RCV003330770] |
Chr16:15748115 [GRCh38]
Chr16:15841972 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2320G>A (p.Val774Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002531831]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180584]|not provided [RCV002307561] |
Chr16:15747661 [GRCh38]
Chr16:15841518 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4242T>A (p.Ala1414=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189427]|not specified [RCV000605253] |
Chr16:15724284 [GRCh38]
Chr16:15818141 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14900131-16529801)x3 |
copy number gain |
See cases [RCV000512246] |
Chr16:14900131..16529801 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2658C>T (p.Thr886=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000864152]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772680]|not provided [RCV001704777] |
Chr16:15741664 [GRCh38]
Chr16:15835521 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001521979]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189933]|MYH11-related condition [RCV003953099]|not specified [RCV003330839] |
Chr16:15735403 [GRCh38]
Chr16:15829260 [GRCh37]
Chr16:16p13.11 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3328C>T (p.Leu1110=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313405] |
Chr16:15735544 [GRCh38]
Chr16:15829401 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.795G>T (p.Leu265=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002063074]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189422]|not specified [RCV000601849] |
Chr16:15776172 [GRCh38]
Chr16:15870029 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.408G>A (p.Glu136=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528207]|not specified [RCV000604985] |
Chr16:15823349 [GRCh38]
Chr16:15917206 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5122C>G (p.Leu1708Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181384] |
Chr16:15719269 [GRCh38]
Chr16:15813126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-6840G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000802966]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524542] |
Chr16:15717351 [GRCh38]
Chr16:15811208 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1055C>T (p.Ser352Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001868127]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189731]|not provided [RCV000762213] |
Chr16:15763870 [GRCh38]
Chr16:15857727 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3788A>G (p.Glu1263Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313404]|not provided [RCV002225690] |
Chr16:15726918 [GRCh38]
Chr16:15820775 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-40C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625463] |
Chr16:15724151 [GRCh38]
Chr16:15818008 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1569G>A (p.Glu523=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000625465] |
Chr16:15757833 [GRCh38]
Chr16:15851690 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14893032-16529801)x3 |
copy number gain |
See cases [RCV000512363] |
Chr16:14893032..16529801 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15450289-16508304)x3 |
copy number gain |
See cases [RCV000512364] |
Chr16:15450289..16508304 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15449696-16529876)x3 |
copy number gain |
See cases [RCV000512404] |
Chr16:15449696..16529876 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1341C>A (p.Thr447=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116745]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524618] |
Chr16:15759636 [GRCh38]
Chr16:15853493 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.726C>T (p.Phe242=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001297590]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181326]|not provided [RCV001562327] |
Chr16:15782385 [GRCh38]
Chr16:15876242 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5829A>G (p.Gly1943=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002498947]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186058]|not specified [RCV000607949] |
Chr16:15704081 [GRCh38]
Chr16:15797938 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1317C>T (p.Arg439=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641620]|Aortic aneurysm, familial thoracic 4 [RCV002499005]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190202] |
Chr16:15759660 [GRCh38]
Chr16:15853517 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1239A>T (p.Thr413=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002313401] |
Chr16:15760549 [GRCh38]
Chr16:15854406 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3750G>A (p.Val1250=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186052] |
Chr16:15726956 [GRCh38]
Chr16:15820813 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*631A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000543624]|Connective tissue disorder [RCV000659917]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191096]|Inborn genetic diseases [RCV001267629]|not provided [RCV001569466] |
Chr16:15724882 [GRCh38]
Chr16:15818739 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14900072-16544419)x3 |
copy number gain |
See cases [RCV000512370] |
Chr16:14900072..16544419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15788690)_(16185034_?)del |
deletion |
Autosomal recessive inherited pseudoxanthoma elasticum [RCV000512639] |
Chr16:15788690..16185034 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000765254]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181545]|not provided [RCV001508774] |
Chr16:15720883 [GRCh38]
Chr16:15814740 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15049968-16391910)x1 |
copy number loss |
See cases [RCV000512373] |
Chr16:15049968..16391910 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.244C>A (p.Pro82Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629129]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313402] |
Chr16:15838009 [GRCh38]
Chr16:15931866 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3933G>A (p.Ala1311=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002063049]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189428]|not provided [RCV001697366] |
Chr16:15724918 [GRCh38]
Chr16:15818775 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 |
copy number loss |
See cases [RCV000512560] |
Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.2222T>C (p.Met741Thr) |
single nucleotide variant |
Congenital aneurysm of ascending aorta [RCV001796130] |
Chr16:15747902 [GRCh38]
Chr16:15841759 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15420069-16388244)x1 |
copy number loss |
See cases [RCV000512563] |
Chr16:15420069..16388244 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.2289A>G (p.Ile763Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178183]|not provided [RCV000585003] |
Chr16:15747692 [GRCh38]
Chr16:15841549 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14901996-16544419)x3 |
copy number gain |
See cases [RCV000512570] |
Chr16:14901996..16544419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2141G>T (p.Gly714Val) |
single nucleotide variant |
Inborn genetic diseases [RCV000622613] |
Chr16:15748086 [GRCh38]
Chr16:15841943 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3712G>A (p.Gly1238Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641573]|Aortic aneurysm, familial thoracic 4 [RCV002492998]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176623] |
Chr16:15726994 [GRCh38]
Chr16:15820851 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2958G>C (p.Glu986Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641575] |
Chr16:15740090 [GRCh38]
Chr16:15833947 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.727-5G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641577] |
Chr16:15778848 [GRCh38]
Chr16:15872705 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641590]|Aortic aneurysm, familial thoracic 4 [RCV002483829]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773294]|not provided [RCV001508775] |
Chr16:15726985 [GRCh38]
Chr16:15820842 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4988A>T (p.Asp1663Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641591] |
Chr16:15719679 [GRCh38]
Chr16:15813536 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5225A>G (p.Glu1742Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641592]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176625] |
Chr16:15718385 [GRCh38]
Chr16:15812242 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3394G>A (p.Ala1132Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641595] |
Chr16:15735478 [GRCh38]
Chr16:15829335 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5108G>A (p.Arg1703His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641600] |
Chr16:15719283 [GRCh38]
Chr16:15813140 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.690C>T (p.Asn230=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641607]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190900]|not provided [RCV001567204] |
Chr16:15782421 [GRCh38]
Chr16:15876278 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2361C>T (p.Thr787=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641617]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773295]|not provided [RCV003884687]|not specified [RCV001193405] |
Chr16:15747620 [GRCh38]
Chr16:15841477 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4761T>C (p.Asn1587=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641637]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181539] |
Chr16:15720869 [GRCh38]
Chr16:15814726 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3300C>T (p.Asp1100=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000641639]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190903] |
Chr16:15735572 [GRCh38]
Chr16:15829429 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3148C>T (p.Arg1050Ter) |
single nucleotide variant |
not provided [RCV000627320] |
Chr16:15737594 [GRCh38]
Chr16:15831451 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15476223-16458423)x3 |
copy number gain |
See cases [RCV000512343] |
Chr16:15476223..16458423 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14892880-16544018)x3 |
copy number gain |
See cases [RCV000512602] |
Chr16:14892880..16544018 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3295C>T (p.Leu1099Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002531832]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185560] |
Chr16:15735577 [GRCh38]
Chr16:15829434 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.746A>G (p.Asn249Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486457] |
Chr16:15778824 [GRCh38]
Chr16:15872681 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1764G>A (p.Ala588=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002066965]|Connective tissue disorder [RCV000659904]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773633]|not provided [RCV001731853] |
Chr16:15753494 [GRCh38]
Chr16:15847351 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3836A>G (p.Asn1279Ser) |
single nucleotide variant |
Connective tissue disorder [RCV000659913]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360684] |
Chr16:15726870 [GRCh38]
Chr16:15820727 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1811C>T (p.Thr604Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000699861] |
Chr16:15753447 [GRCh38]
Chr16:15847304 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3827C>G (p.Ala1276Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000685975] |
Chr16:15726879 [GRCh38]
Chr16:15820736 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.12-12.3(chr16:14780543-16855348)x1 |
copy number loss |
not provided [RCV000683767] |
Chr16:14780543..16855348 [GRCh37]
Chr16:16p13.12-12.3 |
pathogenic |
| GRCh37/hg19 16p13.12-13.11(chr16:14780641-16498084)x1 |
copy number loss |
not provided [RCV000683768] |
Chr16:14780641..16498084 [GRCh37]
Chr16:16p13.12-13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14892880-16521406)x1 |
copy number loss |
not provided [RCV000683769] |
Chr16:14892880..16521406 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1 |
copy number loss |
not provided [RCV000683774] |
Chr16:15318664..18778064 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15419480-16494783)x1 |
copy number loss |
not provided [RCV000683776] |
Chr16:15419480..16494783 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15507898-16294847)x1 |
copy number loss |
not provided [RCV000683780] |
Chr16:15507898..16294847 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val) |
single nucleotide variant |
Connective tissue disorder [RCV000680550]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525870] |
Chr16:15717161 [GRCh38]
Chr16:15811018 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4598C>G (p.Ser1533Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001224467]|Connective tissue disorder [RCV000680553]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334240] |
Chr16:15721032 [GRCh38]
Chr16:15814889 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1020G>A (p.Glu340=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002060859]|Connective tissue disorder [RCV000680560] |
Chr16:15771582 [GRCh38]
Chr16:15865439 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3 |
copy number gain |
not provided [RCV000683781] |
Chr16:15509406..18181971 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15316618-18181971)x1 |
copy number loss |
not provided [RCV000683772] |
Chr16:15316618..18181971 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 |
copy number gain |
not provided [RCV000683773] |
Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15351247-16458408)x1 |
copy number loss |
not provided [RCV000683775] |
Chr16:15351247..16458408 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 |
copy number loss |
not provided [RCV000683777] |
Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15495265-16309185)x1 |
copy number loss |
not provided [RCV000683778] |
Chr16:15495265..16309185 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15495265-16330672)x1 |
copy number loss |
not provided [RCV000683779] |
Chr16:15495265..16330672 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2728C>T (p.Arg910Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804352] |
Chr16:15741594 [GRCh38]
Chr16:15835451 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4202T>C (p.Ile1401Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001869509]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804422] |
Chr16:15724324 [GRCh38]
Chr16:15818181 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4900G>A (p.Asp1634Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001861882]|Aortic aneurysm, familial thoracic 4 [RCV002485570]|Connective tissue disorder [RCV000680552]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191124]|not provided [RCV001756147] |
Chr16:15720204 [GRCh38]
Chr16:15814061 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2967C>G (p.Val989=) |
single nucleotide variant |
Connective tissue disorder [RCV000680557] |
Chr16:15740081 [GRCh38]
Chr16:15833938 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1794G>A (p.Pro598=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002532190]|Connective tissue disorder [RCV000680558]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178890]|not provided [RCV000842166] |
Chr16:15753464 [GRCh38]
Chr16:15847321 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14897625-16458408)x1 |
copy number loss |
not provided [RCV000683770] |
Chr16:14897625..16458408 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14899676-16391045)x1 |
copy number loss |
not provided [RCV000683771] |
Chr16:14899676..16391045 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5354G>C (p.Ser1785Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000685233] |
Chr16:15717290 [GRCh38]
Chr16:15811147 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000685245]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191640] |
Chr16:15708818 [GRCh38]
Chr16:15802675 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.70C>G (p.Pro24Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000700231]|Aortic aneurysm, familial thoracic 4 [RCV002507219]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360794] |
Chr16:15838183 [GRCh38]
Chr16:15932040 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3]) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV000704146]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524999]|MYH11-related condition [RCV003403633]|not provided [RCV001561922]|not specified [RCV003489833] |
Chr16:15718364..15718365 [GRCh38]
Chr16:15812221..15812222 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3326C>A (p.Ala1109Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000690032]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183069]|not provided [RCV002245590] |
Chr16:15735546 [GRCh38]
Chr16:15829403 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5497G>A (p.Glu1833Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000701803] |
Chr16:15717147 [GRCh38]
Chr16:15811004 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV000704502]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176310]|MYH11-related condition [RCV003392541]|not specified [RCV001193454] |
Chr16:15720241..15720243 [GRCh38]
Chr16:15814098..15814100 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.2050G>A (p.Glu684Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000707537] |
Chr16:15750146 [GRCh38]
Chr16:15844003 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3341G>A (p.Arg1114Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000707606]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188197] |
Chr16:15735531 [GRCh38]
Chr16:15829388 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4578+1G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000705664]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334385] |
Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.967G>A (p.Asp323Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000688901] |
Chr16:15771635 [GRCh38]
Chr16:15865492 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5210G>A (p.Arg1737Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000705803]|Aortic aneurysm, familial thoracic 4 [RCV002485765]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798965] |
Chr16:15718400 [GRCh38]
Chr16:15812257 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000688913]|Aortic aneurysm, familial thoracic 4 [RCV002493165]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163127]|Stroke disorder [RCV002227207]|not provided [RCV001549535] |
Chr16:15748165 [GRCh38]
Chr16:15842022 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3353G>A (p.Gly1118Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000689100] |
Chr16:15735519 [GRCh38]
Chr16:15829376 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.935A>G (p.Asn312Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000686522]|Aortic aneurysm, familial thoracic 4 [RCV002477527]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771504]|not provided [RCV001568762] |
Chr16:15771667 [GRCh38]
Chr16:15865524 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2017C>G (p.Pro673Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000686542] |
Chr16:15750179 [GRCh38]
Chr16:15844036 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1904C>T (p.Thr635Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000700946]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181820]|not provided [RCV003238809] |
Chr16:15750292 [GRCh38]
Chr16:15844149 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.601T>G (p.Ser201Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000697518] |
Chr16:15786662 [GRCh38]
Chr16:15880519 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2302A>G (p.Ile768Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000702030]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181821] |
Chr16:15747679 [GRCh38]
Chr16:15841536 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4089G>T (p.Glu1363Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000688640]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176638] |
Chr16:15724674 [GRCh38]
Chr16:15818531 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000696364] |
Chr16:15719639..15719640 [GRCh38]
Chr16:15813496..15813497 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.2250+3G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000699572]|MYH11-related condition [RCV003892555] |
Chr16:15747871 [GRCh38]
Chr16:15841728 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3149G>A (p.Arg1050Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000700012]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181818]|not provided [RCV002462044] |
Chr16:15737593 [GRCh38]
Chr16:15831450 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15802662)_(15880595_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000708309] |
Chr16:15708805..15786738 [GRCh38]
Chr16:15802662..15880595 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2398T>C (p.Tyr800His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000703365]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183566] |
Chr16:15747583 [GRCh38]
Chr16:15841440 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4578+1G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000687071] |
Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic |
| NM_017668.3(NDE1):c.948-6832G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629137]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774155] |
Chr16:15717359 [GRCh38]
Chr16:15811216 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*164A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000804102]|Aortic aneurysm, familial thoracic 4 [RCV003224467]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774535] |
Chr16:15724415 [GRCh38]
Chr16:15818272 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_002474.3(MYH11):c.2998-18_2998-17del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002073411]|not provided [RCV001730197] |
Chr16:15738705..15738706 [GRCh38]
Chr16:15832562..15832563 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NC_000016.10:g.(?_14780667)_(16415941_?)del |
deletion |
Schizophrenia [RCV000754170] |
Chr16:14780667..16415941 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| Single allele |
duplication |
Schizophrenia [RCV000754171] |
Chr16:15029830..16415941 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| Single allele |
duplication |
Schizophrenia [RCV000754172] |
Chr16:15030738..16517711 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| Single allele |
duplication |
Schizophrenia [RCV000754173] |
Chr16:15085515..18775195 [GRCh38]
Chr16:16p13.11-12.3 |
pathogenic |
| Single allele |
duplication |
Schizophrenia [RCV000754174] |
Chr16:15279737..18291544 [GRCh38]
Chr16:16p13.11-12.3 |
pathogenic |
| Single allele |
duplication |
Schizophrenia [RCV000754175] |
Chr16:15318125..16294378 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| NC_000016.10:g.(?_15328439)_(16443962_?)del |
deletion |
Schizophrenia [RCV000754176] |
Chr16:15328439..16443962 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.12-13.11(chr16:14759219-16419494)x1 |
copy number loss |
not provided [RCV000739062] |
Chr16:14759219..16419494 [GRCh37]
Chr16:16p13.12-13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14968859-16291983)x1 |
copy number loss |
not provided [RCV000739063] |
Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14968859-16303388)x1 |
copy number loss |
not provided [RCV000739064] |
Chr16:14968859..16303388 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14968859-16458748)x3 |
copy number gain |
not provided [RCV000739065] |
Chr16:14968859..16458748 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14975292-16306563)x1 |
copy number loss |
not provided [RCV000739066] |
Chr16:14975292..16306563 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15048643-16353166)x1 |
copy number loss |
not provided [RCV000739068] |
Chr16:15048643..16353166 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15051703-16343095)x3 |
copy number gain |
not provided [RCV000739069] |
Chr16:15051703..16343095 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| Single allele |
duplication |
Autism [RCV000754177] |
Chr16:15375457..16198187 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15051703-16356750)x3 |
copy number gain |
not provided [RCV000739070] |
Chr16:15051703..16356750 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NC_000016.10:g.(?_14757009)_(16763184_?)del |
deletion |
Autism [RCV000754169] |
Chr16:14757009..16763184 [GRCh38]
Chr16:16p13.11-12.3 |
pathogenic |
| NM_002474.3(MYH11):c.1033+116dup |
duplication |
not provided [RCV001679002] |
Chr16:15771435..15771436 [GRCh38]
Chr16:15865292..15865293 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.5232G>A (p.Glu1744=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001456908]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179748] |
Chr16:15718378 [GRCh38]
Chr16:15812235 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.345+10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001500942] |
Chr16:15837898 [GRCh38]
Chr16:15931755 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2517C>T (p.Thr839=) |
single nucleotide variant |
not provided [RCV001546122] |
Chr16:15745132 [GRCh38]
Chr16:15838989 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1129+8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000978165] |
Chr16:15763788 [GRCh38]
Chr16:15857645 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+7298G>T |
single nucleotide variant |
not provided [RCV001566046] |
Chr16:15704158 [GRCh38]
Chr16:15798015 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.634-2009C>T |
single nucleotide variant |
not provided [RCV001566637] |
Chr16:15784486 [GRCh38]
Chr16:15878343 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3597G>C (p.Gln1199His) |
single nucleotide variant |
not provided [RCV000762212] |
Chr16:15732618 [GRCh38]
Chr16:15826475 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-4244C>T |
single nucleotide variant |
not provided [RCV001569179] |
Chr16:15719947 [GRCh38]
Chr16:15813804 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1249-204T>G |
single nucleotide variant |
not provided [RCV001576828] |
Chr16:15759932 [GRCh38]
Chr16:15853789 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*898_*900del |
deletion |
not provided [RCV001577300] |
Chr16:15725148..15725150 [GRCh38]
Chr16:15819005..15819007 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9464C>G |
single nucleotide variant |
not provided [RCV001586902] |
Chr16:15714727 [GRCh38]
Chr16:15808584 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1033+127_1033+133del |
deletion |
not provided [RCV001584890] |
Chr16:15771436..15771442 [GRCh38]
Chr16:15865293..15865299 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3293+128A>G |
single nucleotide variant |
not provided [RCV001547218] |
Chr16:15737321 [GRCh38]
Chr16:15831178 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.684C>T (p.Phe228=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360867]|not provided [RCV000756378] |
Chr16:15782427 [GRCh38]
Chr16:15876284 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3 |
copy number gain |
See cases [RCV000790572] |
Chr16:15493046..18157612 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15259141-18361376)x3 |
copy number gain |
not provided [RCV000751597] |
Chr16:15259141..18361376 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15469950-18172311)x3 |
copy number gain |
not provided [RCV000751599] |
Chr16:15469950..18172311 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15935612-16363239)x3 |
copy number gain |
not provided [RCV000751600] |
Chr16:15935612..16363239 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.11(chr16:15935612-16649597)x3 |
copy number gain |
not provided [RCV000751601] |
Chr16:15935612..16649597 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.11(chr16:15949951-15950250)x1 |
copy number loss |
not provided [RCV000751602] |
Chr16:15949951..15950250 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-2942C>T |
single nucleotide variant |
not provided [RCV001549911] |
Chr16:15721249 [GRCh38]
Chr16:15815106 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+6693A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001115992] |
Chr16:15703553 [GRCh38]
Chr16:15797410 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6757G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001115995] |
Chr16:15703617 [GRCh38]
Chr16:15797474 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1509A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116530]|Lissencephaly 4 [RCV001116531] |
Chr16:15725760 [GRCh38]
Chr16:15819617 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4159G>A (p.Val1387Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001046515]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183779]|not provided [RCV002307663] |
Chr16:15724367 [GRCh38]
Chr16:15818224 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4529A>G (p.Lys1510Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002066045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178155]|not provided [RCV000926571] |
Chr16:15721471 [GRCh38]
Chr16:15815328 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2835G>A (p.Arg945=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001465360] |
Chr16:15741487 [GRCh38]
Chr16:15835344 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4786A>C (p.Arg1596=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001418311]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190890]|not specified [RCV003117627] |
Chr16:15720844 [GRCh38]
Chr16:15814701 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4648G>A (p.Glu1550Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000983926]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805950]|not specified [RCV003323772] |
Chr16:15720982 [GRCh38]
Chr16:15814839 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3606A>G (p.Ala1202=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068666]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185886] |
Chr16:15732609 [GRCh38]
Chr16:15826466 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9104G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001439396]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184247] |
Chr16:15715087 [GRCh38]
Chr16:15808944 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5175C>T (p.Asn1725=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001457431]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184432] |
Chr16:15718435 [GRCh38]
Chr16:15812292 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116744] |
Chr16:15759566 [GRCh38]
Chr16:15853423 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3534G>A (p.Val1178=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001392301] |
Chr16:15732681 [GRCh38]
Chr16:15826538 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5736G>A (p.Glu1912=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000981257]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176021] |
Chr16:15714959 [GRCh38]
Chr16:15808816 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-7060C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001496695] |
Chr16:15717131 [GRCh38]
Chr16:15810988 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1464C>T (p.Asn488=) |
single nucleotide variant |
not provided [RCV000756380] |
Chr16:15757938 [GRCh38]
Chr16:15851795 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1341C>T (p.Thr447=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001447483]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190512] |
Chr16:15759636 [GRCh38]
Chr16:15853493 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5322C>T (p.Ala1774=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514444] |
Chr16:15717322 [GRCh38]
Chr16:15811179 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.78C>T (p.Ala26=) |
single nucleotide variant |
not provided [RCV000928832] |
Chr16:15838175 [GRCh38]
Chr16:15932032 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3270G>A (p.Glu1090=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001455902]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186622] |
Chr16:15737472 [GRCh38]
Chr16:15831329 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5067C>A (p.Leu1689=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001485709] |
Chr16:15719600 [GRCh38]
Chr16:15813457 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1557C>T (p.Ile519=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001452081]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525139] |
Chr16:15757845 [GRCh38]
Chr16:15851702 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3054G>A (p.Glu1018=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000865552]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442816] |
Chr16:15738632 [GRCh38]
Chr16:15832489 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.768C>T (p.Ile256=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000868103]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190609]|not provided [RCV003736927] |
Chr16:15778802 [GRCh38]
Chr16:15872659 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1750-4G>A |
single nucleotide variant |
not provided [RCV000925393] |
Chr16:15753512 [GRCh38]
Chr16:15847369 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4515C>G (p.Thr1505=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001447350]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189463] |
Chr16:15721485 [GRCh38]
Chr16:15815342 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3546C>T (p.Ala1182=) |
single nucleotide variant |
not provided [RCV000924573] |
Chr16:15732669 [GRCh38]
Chr16:15826526 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5448C>T (p.Ile1816=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000950978]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184065] |
Chr16:15717196 [GRCh38]
Chr16:15811053 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3579G>A (p.Gln1193=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001463056] |
Chr16:15732636 [GRCh38]
Chr16:15826493 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3933G>T (p.Ala1311=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001490024] |
Chr16:15724918 [GRCh38]
Chr16:15818775 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5088C>T (p.Leu1696=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001078820]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177086] |
Chr16:15719303 [GRCh38]
Chr16:15813160 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3274C>G (p.Leu1092Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001051008]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181365]|not provided [RCV001776110] |
Chr16:15737468 [GRCh38]
Chr16:15831325 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15425965-16199736) |
copy number loss |
not provided [RCV000767843] |
Chr16:15425965..16199736 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_017668.3(NDE1):c.1004G>A (p.Cys335Tyr) |
single nucleotide variant |
not provided [RCV000996218] |
Chr16:15724247 [GRCh38]
Chr16:15818104 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.3935C>T (p.Ser1312Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002549929]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191058] |
Chr16:15724916 [GRCh38]
Chr16:15818773 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3873C>T (p.Ser1291=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067615]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188400] |
Chr16:15724978 [GRCh38]
Chr16:15818835 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3635T>C (p.Leu1212Pro) |
single nucleotide variant |
not provided [RCV000996221] |
Chr16:15732580 [GRCh38]
Chr16:15826437 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3323A>G (p.Asn1108Ser) |
single nucleotide variant |
not provided [RCV000996222] |
Chr16:15735549 [GRCh38]
Chr16:15829406 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3322A>G (p.Asn1108Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002479174]|Aortic aneurysm, familial thoracic 4 [RCV002550691]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188828]|not provided [RCV000996223] |
Chr16:15735550 [GRCh38]
Chr16:15829407 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2794G>C (p.Glu932Gln) |
single nucleotide variant |
not provided [RCV000996224] |
Chr16:15741528 [GRCh38]
Chr16:15835385 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.483C>T (p.Ala161=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068725]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184809] |
Chr16:15823274 [GRCh38]
Chr16:15917131 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1701G>T (p.Lys567Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001069077] |
Chr16:15756389 [GRCh38]
Chr16:15850246 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001041017]|Aortic aneurysm, familial thoracic 4 [RCV002505568]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436550]|not specified [RCV003323784] |
Chr16:15741537 [GRCh38]
Chr16:15835394 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15125627-16286750) |
copy number gain |
not provided [RCV000767577] |
Chr16:15125627..16286750 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14932264-16484731)x3 |
copy number gain |
not provided [RCV000996425] |
Chr16:14932264..16484731 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15797848-15950890)x3 |
copy number gain |
not provided [RCV000996426] |
Chr16:15797848..15950890 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15802668-15932109)x3 |
copy number gain |
not provided [RCV000996427] |
Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2780T>C (p.Met927Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001041613] |
Chr16:15741542 [GRCh38]
Chr16:15835399 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5069T>C (p.Met1690Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001056072] |
Chr16:15719598 [GRCh38]
Chr16:15813455 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5197C>T (p.Arg1733Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001061952]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528265] |
Chr16:15718413 [GRCh38]
Chr16:15812270 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2575G>A (p.Asp859Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001039550]|Aortic aneurysm, familial thoracic 4 [RCV002479253]|Familial thoracic aortic aneurysm and aortic dissection [RCV002427497] |
Chr16:15741837 [GRCh38]
Chr16:15835694 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15125627-16291983) |
copy number loss |
not provided [RCV000767695] |
Chr16:15125627..16291983 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1836C>G (p.Asp612Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001038449] |
Chr16:15753422 [GRCh38]
Chr16:15847279 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001042894]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189027]|not provided [RCV003480918]|not specified [RCV001174945] |
Chr16:15737528 [GRCh38]
Chr16:15831385 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5812C>G (p.Pro1938Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001057473] |
Chr16:15708837 [GRCh38]
Chr16:15802694 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001054167]|not specified [RCV001290570] |
Chr16:15714963 [GRCh38]
Chr16:15808820 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4355A>G (p.Lys1452Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769665] |
Chr16:15724171 [GRCh38]
Chr16:15818028 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3561G>A (p.Thr1187=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001444380]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769668] |
Chr16:15732654 [GRCh38]
Chr16:15826511 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1608C>T (p.Asp536=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001442519]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769674] |
Chr16:15756482 [GRCh38]
Chr16:15850339 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1262T>G (p.Val421Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000770693] |
Chr16:15759715 [GRCh38]
Chr16:15853572 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.633G>A (p.Thr211=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001046440]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770695]|not provided [RCV003313145] |
Chr16:15786630 [GRCh38]
Chr16:15880487 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter) |
single nucleotide variant |
Familial aortopathy [RCV000780508] |
Chr16:15720279 [GRCh38]
Chr16:15814136 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.2446A>C (p.Met816Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002536865]|not specified [RCV000780510] |
Chr16:15745203 [GRCh38]
Chr16:15839060 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2579A>T (p.Glu860Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002458396]|not specified [RCV000780511] |
Chr16:15741833 [GRCh38]
Chr16:15835690 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3265GAG[2] (p.Glu1091del) |
microsatellite |
not provided [RCV000788432] |
Chr16:15737469..15737471 [GRCh38]
Chr16:15831326..15831328 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3566C>A (p.Ser1189Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000772571] |
Chr16:15732649 [GRCh38]
Chr16:15826506 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3630G>A (p.Glu1210=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000772591] |
Chr16:15732585 [GRCh38]
Chr16:15826442 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.161A>G (p.Lys54Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001280976]|Aortic aneurysm, familial thoracic 4 [RCV003224466]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772796] |
Chr16:15838092 [GRCh38]
Chr16:15931949 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1863C>T (p.Asp621=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000793838]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772913]|not provided [RCV001672954] |
Chr16:15753395 [GRCh38]
Chr16:15847252 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629135]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773349] |
Chr16:15717191 [GRCh38]
Chr16:15811048 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5238G>A (p.Glu1746=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002534069]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773477] |
Chr16:15718372 [GRCh38]
Chr16:15812229 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1315C>T (p.Arg439Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000773488]|not provided [RCV003130031] |
Chr16:15759662 [GRCh38]
Chr16:15853519 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5742G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000773745] |
Chr16:15718449 [GRCh38]
Chr16:15812306 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1402-12C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002534097]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773800]|not provided [RCV001700304] |
Chr16:15758012 [GRCh38]
Chr16:15851869 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1249-7T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067279]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773908] |
Chr16:15759735 [GRCh38]
Chr16:15853592 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3441G>C (p.Glu1147Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000773865] |
Chr16:15735431 [GRCh38]
Chr16:15829288 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5120A>G (p.Asp1707Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774038] |
Chr16:15719271 [GRCh38]
Chr16:15813128 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4587G>A (p.Glu1529=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774081] |
Chr16:15721043 [GRCh38]
Chr16:15814900 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5187C>T (p.Asp1729=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001045]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774101] |
Chr16:15718423 [GRCh38]
Chr16:15812280 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1285T>C (p.Tyr429His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774132] |
Chr16:15759692 [GRCh38]
Chr16:15853549 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001349477]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774188] |
Chr16:15724667 [GRCh38]
Chr16:15818524 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3805A>G (p.Ser1269Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514411]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774195]|Inborn genetic diseases [RCV002536677]|not provided [RCV001775992] |
Chr16:15726901 [GRCh38]
Chr16:15820758 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1635G>C (p.Thr545=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001447974]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774243] |
Chr16:15756455 [GRCh38]
Chr16:15850312 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3672G>A (p.Lys1224=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774258] |
Chr16:15727034 [GRCh38]
Chr16:15820891 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5052C>T (p.Ser1684=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001467111]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774261] |
Chr16:15719615 [GRCh38]
Chr16:15813472 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5C>T (p.Ala2Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001231218]|Aortic aneurysm, familial thoracic 4 [RCV002477766]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774262]|not provided [RCV001836878] |
Chr16:15838248 [GRCh38]
Chr16:15932105 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1868A>G (p.Asp623Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003768371]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774275] |
Chr16:15750328 [GRCh38]
Chr16:15844185 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4773G>A (p.Arg1591=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001446906]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774325]|not provided [RCV003326493] |
Chr16:15720857 [GRCh38]
Chr16:15814714 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.510G>A (p.Glu170=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774362] |
Chr16:15798680 [GRCh38]
Chr16:15892537 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3293+5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002535674]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190685]|not specified [RCV000780514] |
Chr16:15737444 [GRCh38]
Chr16:15831301 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.152A>T (p.Lys51Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774392] |
Chr16:15838101 [GRCh38]
Chr16:15931958 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3712G>T (p.Gly1238Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774457] |
Chr16:15726994 [GRCh38]
Chr16:15820851 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2773C>G (p.His925Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774511] |
Chr16:15741549 [GRCh38]
Chr16:15835406 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003117563]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774519]|not provided [RCV002223932] |
Chr16:15714982 [GRCh38]
Chr16:15808839 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1181G>A (p.Arg394Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002255164]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774532] |
Chr16:15760607 [GRCh38]
Chr16:15854464 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14975292-16289532) |
copy number gain |
not provided [RCV000767576] |
Chr16:14975292..16289532 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15521713-16292235) |
copy number loss |
not provided [RCV000767582] |
Chr16:15521713..16292235 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15548310-17988303) |
copy number loss |
not provided [RCV000767583] |
Chr16:15548310..17988303 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15129970-16284116) |
copy number gain |
not provided [RCV000767605] |
Chr16:15129970..16284116 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3115C>G (p.Leu1039Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514414]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325485]|not provided [RCV003128697]|not specified [RCV000781627] |
Chr16:15738571 [GRCh38]
Chr16:15832428 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188244]|Inborn genetic diseases [RCV002536873]|MYH11-related condition [RCV003396359]|not specified [RCV000781630] |
Chr16:15717342 [GRCh38]
Chr16:15811199 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4953G>C (p.Gln1651His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116220]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776361]|MYH11-related condition [RCV003396347] |
Chr16:15720151 [GRCh38]
Chr16:15814008 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15034210-16199736) |
copy number gain |
not provided [RCV000767668] |
Chr16:15034210..16199736 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.357C>T (p.Gly119=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629136]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773548]|not provided [RCV003424332] |
Chr16:15823400 [GRCh38]
Chr16:15917257 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002536667]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773980] |
Chr16:15715081 [GRCh38]
Chr16:15808938 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4797C>T (p.His1599=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001499650]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773999] |
Chr16:15720307 [GRCh38]
Chr16:15814164 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3022A>T (p.Ile1008Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774087] |
Chr16:15738664 [GRCh38]
Chr16:15832521 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.939C>G (p.Gly313=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000817456]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774312]|not provided [RCV001592955] |
Chr16:15771663 [GRCh38]
Chr16:15865520 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3897C>A (p.Ala1299=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068512]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774454] |
Chr16:15724954 [GRCh38]
Chr16:15818811 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5248G>A (p.Gly1750Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774518] |
Chr16:15718362 [GRCh38]
Chr16:15812219 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4906G>C (p.Ala1636Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001856090]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774540] |
Chr16:15720198 [GRCh38]
Chr16:15814055 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2435A>G (p.Gln812Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001873171]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777883] |
Chr16:15745214 [GRCh38]
Chr16:15839071 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) |
deletion |
Chronic intestinal pseudoobstruction [RCV000771021]|MYH11-related condition [RCV003392583]|Visceral myopathy 2 [RCV001449895]|not provided [RCV000852383] |
Chr16:15708830 [GRCh38]
Chr16:15802687 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15126709-16292235) |
copy number gain |
not provided [RCV000767763] |
Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3707T>C (p.Leu1236Pro) |
single nucleotide variant |
not provided [RCV000788757] |
Chr16:15726999 [GRCh38]
Chr16:15820856 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+11990G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629134]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770687] |
Chr16:15708850 [GRCh38]
Chr16:15802707 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.5253C>T (p.Asn1751=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001505958]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175879] |
Chr16:15718357 [GRCh38]
Chr16:15812214 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2521-11TG[5] |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV001407732]|Familial thoracic aortic aneurysm and aortic dissection [RCV002427189] |
Chr16:15741894..15741895 [GRCh38]
Chr16:15835751..15835752 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.846C>T (p.His282=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001403805] |
Chr16:15776121 [GRCh38]
Chr16:15869978 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1323C>T (p.Asn441=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001399330] |
Chr16:15759654 [GRCh38]
Chr16:15853511 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4899C>A (p.Ala1633=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000937840]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190686] |
Chr16:15720205 [GRCh38]
Chr16:15814062 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3213C>T (p.Ile1071=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000943547]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182053] |
Chr16:15737529 [GRCh38]
Chr16:15831386 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.5819_5820insCA (p.Gln1941fs) |
insertion |
Aortic aneurysm, familial thoracic 4 [RCV000855721]|Esophageal and colonic dysmotility [RCV000855720]|Visceral myopathy 2 [RCV001449894] |
Chr16:15708829..15708830 [GRCh38]
Chr16:15802686..15802687 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic|likely benign |
| NM_002474.3(MYH11):c.345+10G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001418927] |
Chr16:15837898 [GRCh38]
Chr16:15931755 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2653-9T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001436829] |
Chr16:15741678 [GRCh38]
Chr16:15835535 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2545C>A (p.Arg849=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001436669]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190983] |
Chr16:15741867 [GRCh38]
Chr16:15835724 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1584T>C (p.Pro528=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001406448] |
Chr16:15756506 [GRCh38]
Chr16:15850363 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3870G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001439843]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187463] |
Chr16:15720321 [GRCh38]
Chr16:15814178 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3303T>C (p.Asp1101=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000887569] |
Chr16:15735569 [GRCh38]
Chr16:15829426 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694) |
copy number gain |
not provided [RCV000767573] |
Chr16:14766480..16286694 [GRCh37]
Chr16:16p13.12-13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15126709-16292235) |
copy number gain |
not provided [RCV000767578] |
Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15493046-16053729) |
copy number loss |
not provided [RCV000767581] |
Chr16:15493046..16053729 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.849C>A (p.Ile283=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000937470] |
Chr16:15776118 [GRCh38]
Chr16:15869975 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3180G>A (p.Leu1060=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001460364] |
Chr16:15737562 [GRCh38]
Chr16:15831419 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.549G>A (p.Gly183=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001422053] |
Chr16:15786714 [GRCh38]
Chr16:15880571 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3255G>A (p.Leu1085=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001118080]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524452] |
Chr16:15737487 [GRCh38]
Chr16:15831344 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.4822G>A (p.Glu1608Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000868059]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190583]|not provided [RCV001759650] |
Chr16:15720282 [GRCh38]
Chr16:15814139 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.948-3873C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000921958]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525131] |
Chr16:15720318 [GRCh38]
Chr16:15814175 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1905G>A (p.Thr635=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001393586]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185909] |
Chr16:15750291 [GRCh38]
Chr16:15844148 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3342G>A (p.Arg1114=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001412201] |
Chr16:15735530 [GRCh38]
Chr16:15829387 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15395312-16210889) |
copy number loss |
not provided [RCV000767579] |
Chr16:15395312..16210889 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15168667-16291983) |
copy number gain |
not provided [RCV000767606] |
Chr16:15168667..16291983 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2153G>A (p.Arg718Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769672]|not provided [RCV002223929] |
Chr16:15748074 [GRCh38]
Chr16:15841931 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.155A>G (p.Glu52Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000795493]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772812] |
Chr16:15838098 [GRCh38]
Chr16:15931955 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2812G>A (p.Gly938Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001365513]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772945]|not provided [RCV001563576] |
Chr16:15741510 [GRCh38]
Chr16:15835367 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1776G>A (p.Leu592=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002061075]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772986] |
Chr16:15753482 [GRCh38]
Chr16:15847339 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.953C>T (p.Pro318Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000773396] |
Chr16:15771649 [GRCh38]
Chr16:15865506 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1787T>C (p.Met596Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000773524] |
Chr16:15753471 [GRCh38]
Chr16:15847328 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4123G>A (p.Asp1375Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001245253]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773560] |
Chr16:15724403 [GRCh38]
Chr16:15818260 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001320092]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774040]|Isolated thoracic aortic aneurysm [RCV001374832]|not provided [RCV002221584] |
Chr16:15735497 [GRCh38]
Chr16:15829354 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2173C>T (p.Arg725Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774153] |
Chr16:15748054 [GRCh38]
Chr16:15841911 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1815C>A (p.Ser605=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067288]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774163] |
Chr16:15753443 [GRCh38]
Chr16:15847300 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.229C>T (p.Gln77Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774190] |
Chr16:15838024 [GRCh38]
Chr16:15931881 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5314G>A (p.Glu1772Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003267361] |
Chr16:15717330 [GRCh38]
Chr16:15811187 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2850G>A (p.Gln950=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000865788]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774203]|MYH11-related condition [RCV003918260]|not provided [RCV001557779] |
Chr16:15741472 [GRCh38]
Chr16:15835329 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2196G>A (p.Ala732=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001398005]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774260]|not provided [RCV000935384] |
Chr16:15747928 [GRCh38]
Chr16:15841785 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774332]|not specified [RCV003387927] |
Chr16:15717345 [GRCh38]
Chr16:15811202 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5353A>T (p.Ser1785Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000864791]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774447] |
Chr16:15717291 [GRCh38]
Chr16:15811148 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3823C>A (p.Arg1275=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000774500] |
Chr16:15726883 [GRCh38]
Chr16:15820740 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.588C>T (p.Ala196=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001489552]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774512]|not provided [RCV002225726] |
Chr16:15786675 [GRCh38]
Chr16:15880532 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1864+6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002535626]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777612] |
Chr16:15753388 [GRCh38]
Chr16:15847245 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5607G>A (p.Lys1869=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068508]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773793]|not specified [RCV000781629] |
Chr16:15715170 [GRCh38]
Chr16:15809027 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4953+2T>C |
single nucleotide variant |
not provided [RCV003313414] |
Chr16:15720149 [GRCh38]
Chr16:15814006 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15126709-16292235) |
copy number gain |
not provided [RCV000767824] |
Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_017668.3(NDE1):c.947+11893_947+11897del |
microsatellite |
not provided [RCV000833734] |
Chr16:15708748..15708752 [GRCh38]
Chr16:15802605..15802609 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.947+11935C>T |
single nucleotide variant |
not provided [RCV000841387] |
Chr16:15708795 [GRCh38]
Chr16:15802652 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15551302-18306854)x3 |
copy number gain |
not provided [RCV000856643] |
Chr16:15551302..18306854 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| NM_002474.3(MYH11):c.2147C>A (p.Pro716His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000809767]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424895] |
Chr16:15748080 [GRCh38]
Chr16:15841937 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2860-224T>C |
single nucleotide variant |
not provided [RCV000839598] |
Chr16:15740412 [GRCh38]
Chr16:15834269 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.987C>T (p.Thr329=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001502225]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525102]|not provided [RCV000828325] |
Chr16:15724230 [GRCh38]
Chr16:15818087 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.530+25G>T |
single nucleotide variant |
not provided [RCV000832865] |
Chr16:15798635 [GRCh38]
Chr16:15892492 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-4103C>T |
single nucleotide variant |
not provided [RCV000831615] |
Chr16:15720088 [GRCh38]
Chr16:15813945 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.4235C>T (p.Ala1412Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000819370]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189311] |
Chr16:15724291 [GRCh38]
Chr16:15818148 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4060G>A (p.Glu1354Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000823507]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186088] |
Chr16:15724703 [GRCh38]
Chr16:15818560 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3858+113C>T |
single nucleotide variant |
not provided [RCV000836013] |
Chr16:15726735 [GRCh38]
Chr16:15820592 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-2426A>G |
single nucleotide variant |
not provided [RCV000836014] |
Chr16:15721765 [GRCh38]
Chr16:15815622 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3000A>G |
single nucleotide variant |
not provided [RCV000836015] |
Chr16:15721191 [GRCh38]
Chr16:15815048 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1576-4A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116742]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528237]|not provided [RCV000842322]|not specified [RCV002265900] |
Chr16:15756518 [GRCh38]
Chr16:15850375 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.727-129T>C |
single nucleotide variant |
not provided [RCV000832401] |
Chr16:15778972 [GRCh38]
Chr16:15872829 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.790+167T>C |
single nucleotide variant |
not provided [RCV000832402] |
Chr16:15778613 [GRCh38]
Chr16:15872470 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2521-67C>G |
single nucleotide variant |
not provided [RCV000832403] |
Chr16:15741958 [GRCh38]
Chr16:15835815 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.890-165G>A |
single nucleotide variant |
not provided [RCV000834626] |
Chr16:15771877 [GRCh38]
Chr16:15865734 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+206G>A |
single nucleotide variant |
not provided [RCV000834628] |
Chr16:15759370 [GRCh38]
Chr16:15853227 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2059-189G>A |
single nucleotide variant |
not provided [RCV000834629] |
Chr16:15748357 [GRCh38]
Chr16:15842214 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-234G>C |
single nucleotide variant |
not provided [RCV000838106] |
Chr16:15745471 [GRCh38]
Chr16:15839328 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.947+7493G>T |
single nucleotide variant |
not provided [RCV000838107] |
Chr16:15704353 [GRCh38]
Chr16:15798210 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1865-13C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001858444]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177905]|not provided [RCV000842723] |
Chr16:15750344 [GRCh38]
Chr16:15844201 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3447G>A (p.Glu1149=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001417059] |
Chr16:15735425 [GRCh38]
Chr16:15829282 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-183C>G |
single nucleotide variant |
not provided [RCV000834630] |
Chr16:15745420 [GRCh38]
Chr16:15839277 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-5952G>A |
single nucleotide variant |
not provided [RCV000834632] |
Chr16:15718239 [GRCh38]
Chr16:15812096 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-7166G>C |
single nucleotide variant |
not provided [RCV000834633] |
Chr16:15717025 [GRCh38]
Chr16:15810882 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-9502G>T |
single nucleotide variant |
not provided [RCV000834634] |
Chr16:15714689 [GRCh38]
Chr16:15808546 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1870C>T (p.Arg624Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000808031] |
Chr16:15750326 [GRCh38]
Chr16:15844183 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.531-208G>T |
single nucleotide variant |
not provided [RCV000832871] |
Chr16:15786940 [GRCh38]
Chr16:15880797 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3294-115G>A |
single nucleotide variant |
not provided [RCV000834765] |
Chr16:15735693 [GRCh38]
Chr16:15829550 [GRCh37]
Chr16:16p13.11 |
benign |
| NC_000016.10:g.15725198G>A |
single nucleotide variant |
not provided [RCV000834766] |
Chr16:15819055 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-3771A>G |
single nucleotide variant |
not provided [RCV000834767] |
Chr16:15720420 [GRCh38]
Chr16:15814277 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-4282C>A |
single nucleotide variant |
not provided [RCV000834768] |
Chr16:15719909 [GRCh38]
Chr16:15813766 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.5055G>C (p.Leu1685Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000818214]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189309] |
Chr16:15719612 [GRCh38]
Chr16:15813469 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.634-137A>G |
single nucleotide variant |
not provided [RCV000833081] |
Chr16:15782614 [GRCh38]
Chr16:15876471 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.727-107C>T |
single nucleotide variant |
not provided [RCV000833082] |
Chr16:15778950 [GRCh38]
Chr16:15872807 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.-17-248G>A |
single nucleotide variant |
not provided [RCV000840449] |
Chr16:15838517 [GRCh38]
Chr16:15932374 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.346-292T>G |
single nucleotide variant |
not provided [RCV000840450] |
Chr16:15823703 [GRCh38]
Chr16:15917560 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.346-281C>T |
single nucleotide variant |
not provided [RCV000840451] |
Chr16:15823692 [GRCh38]
Chr16:15917549 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.346-269C>T |
single nucleotide variant |
not provided [RCV000840453] |
Chr16:15823680 [GRCh38]
Chr16:15917537 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.502+251T>G |
single nucleotide variant |
not provided [RCV000840454] |
Chr16:15823004 [GRCh38]
Chr16:15916861 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3121+281G>C |
single nucleotide variant |
not provided [RCV000840475] |
Chr16:15738284 [GRCh38]
Chr16:15832141 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3506+275T>C |
single nucleotide variant |
not provided [RCV000840508] |
Chr16:15735091 [GRCh38]
Chr16:15828948 [GRCh37]
Chr16:16p13.11 |
benign |
| NC_000016.10:g.(?_15703981)_(15838262_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000813335] |
Chr16:15703981..15838262 [GRCh38]
Chr16:15797838..15932119 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.5490C>A (p.Val1830=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002538249]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184845]|not provided [RCV000826960] |
Chr16:15717154 [GRCh38]
Chr16:15811011 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1575+99G>A |
single nucleotide variant |
not provided [RCV000835208] |
Chr16:15757728 [GRCh38]
Chr16:15851585 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.633+1583T>C |
single nucleotide variant |
not provided [RCV000840744] |
Chr16:15785047 [GRCh38]
Chr16:15878904 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.4127C>T (p.Ser1376Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000792024]|Aortic aneurysm, familial thoracic 4 [RCV002487638]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182047]|not provided [RCV001592968] |
Chr16:15724399 [GRCh38]
Chr16:15818256 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-3465_948-3464del |
microsatellite |
not provided [RCV000834631] |
Chr16:15720724..15720725 [GRCh38]
Chr16:15814581..15814582 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.346-296G>A |
single nucleotide variant |
not provided [RCV000840811] |
Chr16:15823707 [GRCh38]
Chr16:15917564 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3293+309G>A |
single nucleotide variant |
not provided [RCV000840837] |
Chr16:15737140 [GRCh38]
Chr16:15830997 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3894G>C (p.Glu1298Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000808702] |
Chr16:15724957 [GRCh38]
Chr16:15818814 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-4460_948-4457del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002064393]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190180]|not provided [RCV000842323]|not specified [RCV002265901] |
Chr16:15719728..15719731 [GRCh38]
Chr16:15813585..15813588 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000799073]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190555]|not provided [RCV002261209] |
Chr16:15721520 [GRCh38]
Chr16:15815377 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1034-34T>C |
single nucleotide variant |
not provided [RCV000833733] |
Chr16:15763925 [GRCh38]
Chr16:15857782 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2411+216C>T |
single nucleotide variant |
not provided [RCV000833832] |
Chr16:15747354 [GRCh38]
Chr16:15841211 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.973T>C (p.Ser325Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000804234]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183896] |
Chr16:15724216 [GRCh38]
Chr16:15818073 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1700A>G (p.Lys567Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000822349] |
Chr16:15756390 [GRCh38]
Chr16:15850247 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.889+134A>G |
single nucleotide variant |
not provided [RCV000831610] |
Chr16:15775944 [GRCh38]
Chr16:15869801 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1749+194A>G |
single nucleotide variant |
not provided [RCV000831611] |
Chr16:15756147 [GRCh38]
Chr16:15850004 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2058+96C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001462]|not provided [RCV000831612] |
Chr16:15750042 [GRCh38]
Chr16:15843899 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3293+94C>T |
single nucleotide variant |
not provided [RCV000831613] |
Chr16:15737355 [GRCh38]
Chr16:15831212 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.531-20G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003768569]|not provided [RCV000827032] |
Chr16:15786752 [GRCh38]
Chr16:15880609 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2181-30C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001776046]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001776047]|Visceral myopathy 2 [RCV001776048]|not provided [RCV000830167] |
Chr16:15747973 [GRCh38]
Chr16:15841830 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3651+37A>G |
single nucleotide variant |
not provided [RCV000833766] |
Chr16:15732527 [GRCh38]
Chr16:15826384 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.379C>T (p.Pro127Ser) |
single nucleotide variant |
Visceral myopathy 1 [RCV000787337] |
Chr16:15823378 [GRCh38]
Chr16:15917235 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.790+28T>C |
single nucleotide variant |
not provided [RCV000830181] |
Chr16:15778752 [GRCh38]
Chr16:15872609 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2997+284T>C |
single nucleotide variant |
not provided [RCV000830226] |
Chr16:15739767 [GRCh38]
Chr16:15833624 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2998-118A>G |
single nucleotide variant |
not provided [RCV000830227] |
Chr16:15738806 [GRCh38]
Chr16:15832663 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+12261T>C |
single nucleotide variant |
not provided [RCV000830230] |
Chr16:15709121 [GRCh38]
Chr16:15802978 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3294-101C>G |
single nucleotide variant |
not provided [RCV000834003] |
Chr16:15735679 [GRCh38]
Chr16:15829536 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1201A>G (p.Ile401Val) |
single nucleotide variant |
not provided [RCV000788252] |
Chr16:15760587 [GRCh38]
Chr16:15854444 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-3578A>G |
single nucleotide variant |
not provided [RCV000838194] |
Chr16:15720613 [GRCh38]
Chr16:15814470 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2520+224C>T |
single nucleotide variant |
not provided [RCV000838340] |
Chr16:15744905 [GRCh38]
Chr16:15838762 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NC_000016.10:g.15724138G>A |
single nucleotide variant |
not provided [RCV000834589] |
Chr16:15817995 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1129+41T>G |
single nucleotide variant |
not provided [RCV000834617] |
Chr16:15763755 [GRCh38]
Chr16:15857612 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3293+290G>T |
single nucleotide variant |
not provided [RCV000841183] |
Chr16:15737159 [GRCh38]
Chr16:15831016 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.11(chr16:15792748-15907589)x3 |
copy number gain |
not provided [RCV000849922] |
Chr16:15792748..15907589 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.346-53A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001463]|not provided [RCV000831608] |
Chr16:15823464 [GRCh38]
Chr16:15917321 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.502+100C>T |
single nucleotide variant |
not provided [RCV000831609] |
Chr16:15823155 [GRCh38]
Chr16:15917012 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.790+132C>G |
single nucleotide variant |
not provided [RCV000835416] |
Chr16:15778648 [GRCh38]
Chr16:15872505 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2859+154G>A |
single nucleotide variant |
not provided [RCV000835417] |
Chr16:15741309 [GRCh38]
Chr16:15835166 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4606G>A (p.Ala1536Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000823185]|Aortic aneurysm, familial thoracic 4 [RCV002501143]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336721] |
Chr16:15721024 [GRCh38]
Chr16:15814881 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3765G>T (p.Lys1255Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000823230]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180742] |
Chr16:15726941 [GRCh38]
Chr16:15820798 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2141G>C (p.Gly714Ala) |
single nucleotide variant |
not provided [RCV000788177] |
Chr16:15748086 [GRCh38]
Chr16:15841943 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5057A>C |
single nucleotide variant |
not provided [RCV000836017] |
Chr16:15719134 [GRCh38]
Chr16:15812991 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.726+19T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629140]|not provided [RCV000842221] |
Chr16:15782366 [GRCh38]
Chr16:15876223 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-5498C>T |
single nucleotide variant |
not provided [RCV000832213] |
Chr16:15718693 [GRCh38]
Chr16:15812550 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2653C>G (p.Leu885Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000804937] |
Chr16:15741669 [GRCh38]
Chr16:15835526 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000808272]|Familial thoracic aortic aneurysm and aortic dissection [RCV003372862]|not specified [RCV003479223] |
Chr16:15741575 [GRCh38]
Chr16:15835432 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5360_5362dup (p.Arg1787dup) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000805160] |
Chr16:15717281..15717282 [GRCh38]
Chr16:15811138..15811139 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-340T>C |
single nucleotide variant |
not provided [RCV000840539] |
Chr16:15723851 [GRCh38]
Chr16:15817708 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-7319G>C |
single nucleotide variant |
not provided [RCV000840540] |
Chr16:15716872 [GRCh38]
Chr16:15810729 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.634-1955C>T |
single nucleotide variant |
not provided [RCV000827478] |
Chr16:15784432 [GRCh38]
Chr16:15878289 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.*312C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117773]|Lissencephaly 4 [RCV001117774] |
Chr16:15724563 [GRCh38]
Chr16:15818420 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15797838)_(15932119_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000805288] |
Chr16:15703981..15838262 [GRCh38]
Chr16:15797838..15932119 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5365C>G (p.Gln1789Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000793472] |
Chr16:15717279 [GRCh38]
Chr16:15811136 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1842A>G |
single nucleotide variant |
Lissencephaly 4 [RCV001117990] |
Chr16:15726093 [GRCh38]
Chr16:15819950 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5485C>A (p.Gln1829Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116104]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188658] |
Chr16:15717159 [GRCh38]
Chr16:15811016 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-4837G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001776052]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001776053]|Visceral myopathy 2 [RCV001776054]|not provided [RCV000830173] |
Chr16:15719354 [GRCh38]
Chr16:15813211 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2412-267T>C |
single nucleotide variant |
not provided [RCV000828769] |
Chr16:15745504 [GRCh38]
Chr16:15839361 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3651+6G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000792021] |
Chr16:15732558 [GRCh38]
Chr16:15826415 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4661_4681del (p.Glu1554_Asp1560del) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001068472] |
Chr16:15720949..15720969 [GRCh38]
Chr16:15814806..15814826 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1209T>G |
single nucleotide variant |
Lissencephaly 4 [RCV001119436] |
Chr16:15725460 [GRCh38]
Chr16:15819317 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15726828)_(15727074_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV000796141] |
Chr16:15726828..15727074 [GRCh38]
Chr16:15820685..15820931 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.502+291T>C |
single nucleotide variant |
not provided [RCV000829086] |
Chr16:15822964 [GRCh38]
Chr16:15916821 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.11-12.3(chr16:14900168-16869135)x3 |
copy number gain |
not provided [RCV001006774] |
Chr16:14900168..16869135 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:14900182-16529801)x3 |
copy number gain |
not provided [RCV001006775] |
Chr16:14900182..16529801 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.1839G>C (p.Lys613Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000809016]|Familial thoracic aortic aneurysm and aortic dissection [RCV002406814]|not provided [RCV003442095] |
Chr16:15753419 [GRCh38]
Chr16:15847276 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1850G>A |
single nucleotide variant |
Lissencephaly 4 [RCV001119518] |
Chr16:15726101 [GRCh38]
Chr16:15819958 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15931755)_(15932119_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV000823976] |
Chr16:15837898..15838262 [GRCh38]
Chr16:15931755..15932119 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2653-3C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000821175]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183337] |
Chr16:15741672 [GRCh38]
Chr16:15835529 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1343A>G (p.His448Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000821561] |
Chr16:15759634 [GRCh38]
Chr16:15853491 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3035C>T (p.Thr1012Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000810431]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180085]|not provided [RCV003313152] |
Chr16:15738651 [GRCh38]
Chr16:15832508 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.634-1918G>A |
single nucleotide variant |
not provided [RCV000840455] |
Chr16:15784395 [GRCh38]
Chr16:15878252 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.791-276T>C |
single nucleotide variant |
not provided [RCV000840458] |
Chr16:15776452 [GRCh38]
Chr16:15870309 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-5467G>C |
single nucleotide variant |
not provided [RCV000840468] |
Chr16:15718724 [GRCh38]
Chr16:15812581 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.503-163C>A |
single nucleotide variant |
not provided [RCV000837199] |
Chr16:15798850 [GRCh38]
Chr16:15892707 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1833C>T (p.Ser611=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001858552]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187939] |
Chr16:15753425 [GRCh38]
Chr16:15847282 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1614A>G (p.Glu538=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001457845]|Familial thoracic aortic aneurysm and aortic dissection [RCV002400074] |
Chr16:15756476 [GRCh38]
Chr16:15850333 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4835G>A (p.Arg1612His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000795576]|Aortic aneurysm, familial thoracic 4 [RCV002493440]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525948]|not provided [RCV000788703] |
Chr16:15720269 [GRCh38]
Chr16:15814126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.605A>C (p.His202Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002535788]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182312]|not provided [RCV000788704] |
Chr16:15786658 [GRCh38]
Chr16:15880515 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2059-266G>A |
single nucleotide variant |
not provided [RCV000829100] |
Chr16:15748434 [GRCh38]
Chr16:15842291 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.4637C>T (p.Thr1546Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000791960]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177087]|not provided [RCV001092819] |
Chr16:15720993 [GRCh38]
Chr16:15814850 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3651+184C>T |
single nucleotide variant |
not provided [RCV000834621] |
Chr16:15732380 [GRCh38]
Chr16:15826237 [GRCh37]
Chr16:16p13.11 |
likely benign |
| Single allele |
deletion |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV000844925] |
Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11 |
not provided |
| NC_000016.10:g.15724453G>A |
single nucleotide variant |
not provided [RCV000831614] |
Chr16:15818310 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-4415G>A |
single nucleotide variant |
not provided [RCV000831616] |
Chr16:15719776 [GRCh38]
Chr16:15813633 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1129+49T>G |
single nucleotide variant |
not provided [RCV000831621] |
Chr16:15763747 [GRCh38]
Chr16:15857604 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2875C>G (p.Leu959Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000820133] |
Chr16:15740173 [GRCh38]
Chr16:15834030 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2599C>T (p.Arg867Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000813659]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440775] |
Chr16:15741813 [GRCh38]
Chr16:15835670 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3282G>T (p.Ala1094=) |
single nucleotide variant |
not provided [RCV000827219] |
Chr16:15737460 [GRCh38]
Chr16:15831317 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.503-115T>C |
single nucleotide variant |
not provided [RCV000835380] |
Chr16:15798802 [GRCh38]
Chr16:15892659 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3651+226C>T |
single nucleotide variant |
not provided [RCV000839030] |
Chr16:15732338 [GRCh38]
Chr16:15826195 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000823188]|Aortic aneurysm, familial thoracic 4 [RCV002495183]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178493]|not provided [RCV003327468]|not specified [RCV001201301] |
Chr16:15741663 [GRCh38]
Chr16:15835520 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3652-180_3652-179del |
microsatellite |
not provided [RCV000835418] |
Chr16:15727233..15727234 [GRCh38]
Chr16:15821090..15821091 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2482A>C (p.Lys828Gln) |
single nucleotide variant |
not provided [RCV003239064] |
Chr16:15745167 [GRCh38]
Chr16:15839024 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2520+46C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001776049]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001776050]|Visceral myopathy 2 [RCV001776051]|not provided [RCV000830172] |
Chr16:15745083 [GRCh38]
Chr16:15838940 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.947+12229G>T |
single nucleotide variant |
not provided [RCV000830174] |
Chr16:15709089 [GRCh38]
Chr16:15802946 [GRCh37]
Chr16:16p13.11 |
benign |
| NC_000016.10:g.15747982G>A |
single nucleotide variant |
not provided [RCV000830225] |
Chr16:15841839 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3121+108C>T |
single nucleotide variant |
not provided [RCV000830228] |
Chr16:15738457 [GRCh38]
Chr16:15832314 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-6794G>C |
single nucleotide variant |
not provided [RCV000830229] |
Chr16:15717397 [GRCh38]
Chr16:15811254 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-3111A>G |
single nucleotide variant |
not provided [RCV000836016] |
Chr16:15721080 [GRCh38]
Chr16:15814937 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NC_000016.10:g.15708831G>C |
single nucleotide variant |
not provided [RCV000836072] |
Chr16:15802688 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.531-128C>A |
single nucleotide variant |
not provided [RCV000836086] |
Chr16:15786860 [GRCh38]
Chr16:15880717 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3397G>T (p.Ala1133Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001071655]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805853]|not provided [RCV000788829] |
Chr16:15735475 [GRCh38]
Chr16:15829332 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.750C>T (p.Phe250=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001471916]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180632] |
Chr16:15778820 [GRCh38]
Chr16:15872677 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.573C>T (p.Val191=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181582]|not specified [RCV003230642] |
Chr16:15786690 [GRCh38]
Chr16:15880547 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+6524C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120918] |
Chr16:15703384 [GRCh38]
Chr16:15797241 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3 |
copy number gain |
See cases [RCV001194544] |
Chr16:14975292..16291099 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5195G>A (p.Arg1732His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181213] |
Chr16:15718415 [GRCh38]
Chr16:15812272 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1047G>A (p.Val349=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001497597]|Aortic aneurysm, familial thoracic 4 [RCV002491525]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180619] |
Chr16:15763878 [GRCh38]
Chr16:15857735 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+6827G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117447] |
Chr16:15703687 [GRCh38]
Chr16:15797544 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1211A>T |
single nucleotide variant |
Lissencephaly 4 [RCV001119437] |
Chr16:15725462 [GRCh38]
Chr16:15819319 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5166G>A (p.Ser1722=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001455890]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336810]|not provided [RCV000869486] |
Chr16:15719225 [GRCh38]
Chr16:15813082 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:14900072-16837613)x3 |
copy number gain |
not provided [RCV001006773] |
Chr16:14900072..16837613 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:14893566-16330627)x1 |
copy number loss |
not provided [RCV001006771] |
Chr16:14893566..16330627 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3847C>A (p.His1283Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001066277] |
Chr16:15726859 [GRCh38]
Chr16:15820716 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2886G>A (p.Glu962=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559783]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181359] |
Chr16:15740162 [GRCh38]
Chr16:15834019 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.12-13.11(chr16:14780543-16391045)x1 |
copy number loss |
not provided [RCV001006770] |
Chr16:14780543..16391045 [GRCh37]
Chr16:16p13.12-13.11 |
pathogenic |
| NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876053]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182105]|not specified [RCV003331066] |
Chr16:15724376 [GRCh38]
Chr16:15818233 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2329C>A (p.His777Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182814] |
Chr16:15747652 [GRCh38]
Chr16:15841509 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2724G>A (p.Glu908=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182865] |
Chr16:15741598 [GRCh38]
Chr16:15835455 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.890-13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558788]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175674] |
Chr16:15771725 [GRCh38]
Chr16:15865582 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4024G>A (p.Glu1342Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183146] |
Chr16:15724739 [GRCh38]
Chr16:15818596 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.209C>T (p.Thr70Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183252] |
Chr16:15838044 [GRCh38]
Chr16:15931901 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2368A>G (p.Ile790Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175945] |
Chr16:15747613 [GRCh38]
Chr16:15841470 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.434A>G (p.Lys145Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001002055] |
Chr16:15823323 [GRCh38]
Chr16:15917180 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1559A>C (p.Glu520Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183624] |
Chr16:15757843 [GRCh38]
Chr16:15851700 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876118]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183828]|not provided [RCV002559051] |
Chr16:15714958 [GRCh38]
Chr16:15808815 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5349T>A (p.Asn1783Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176662] |
Chr16:15717295 [GRCh38]
Chr16:15811152 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3719T>G (p.Leu1240Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184140] |
Chr16:15726987 [GRCh38]
Chr16:15820844 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2279T>C (p.Leu760Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184168] |
Chr16:15747702 [GRCh38]
Chr16:15841559 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5479G>A (p.Glu1827Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184271] |
Chr16:15717165 [GRCh38]
Chr16:15811022 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1083C>T (p.Phe361=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177023] |
Chr16:15763842 [GRCh38]
Chr16:15857699 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3036G>A (p.Thr1012=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001461378]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177030]|not provided [RCV001534035] |
Chr16:15738650 [GRCh38]
Chr16:15832507 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3618G>A (p.Glu1206=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003770043]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184361] |
Chr16:15732597 [GRCh38]
Chr16:15826454 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4224C>T (p.Tyr1408=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001442684]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177102]|not provided [RCV001556249] |
Chr16:15724302 [GRCh38]
Chr16:15818159 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3198C>T (p.Asp1066=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559719]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177217]|not specified [RCV003230640] |
Chr16:15737544 [GRCh38]
Chr16:15831401 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2180+2T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184605] |
Chr16:15748045 [GRCh38]
Chr16:15841902 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.267C>T (p.Asp89=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629172]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184814] |
Chr16:15837986 [GRCh38]
Chr16:15931843 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.30T>C (p.Asp10=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177795] |
Chr16:15838223 [GRCh38]
Chr16:15932080 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1045G>A (p.Val349Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177827] |
Chr16:15763880 [GRCh38]
Chr16:15857737 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1222G>T (p.Val408Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178058] |
Chr16:15760566 [GRCh38]
Chr16:15854423 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514482]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185377]|not provided [RCV002462348] |
Chr16:15714937 [GRCh38]
Chr16:15808794 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1749+3A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185574] |
Chr16:15756338 [GRCh38]
Chr16:15850195 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1402G>A (p.Val468Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001215960] |
Chr16:15758000 [GRCh38]
Chr16:15851857 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5009A>C (p.Glu1670Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001214241] |
Chr16:15719658 [GRCh38]
Chr16:15813515 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3628G>A (p.Glu1210Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001221104] |
Chr16:15732587 [GRCh38]
Chr16:15826444 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5278C>A (p.Arg1760Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180940] |
Chr16:15718332 [GRCh38]
Chr16:15812189 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4184A>G (p.Lys1395Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629161]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180879] |
Chr16:15724342 [GRCh38]
Chr16:15818199 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3294-13C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558978]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180905] |
Chr16:15735591 [GRCh38]
Chr16:15829448 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.204G>C (p.Lys68Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181793] |
Chr16:15838049 [GRCh38]
Chr16:15931906 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3603_3607dup (p.Gln1203fs) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001219350] |
Chr16:15732607..15732608 [GRCh38]
Chr16:15826464..15826465 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5435T>C (p.Phe1812Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003777077]|Inborn genetic diseases [RCV003268697] |
Chr16:15717209 [GRCh38]
Chr16:15811066 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3 |
copy number gain |
not provided [RCV003312362] |
Chr16:14819740..16364041 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001027837]|Aortic aneurysm, familial thoracic 4 [RCV003224501]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181543]|not provided [RCV000996215]|not specified [RCV001174783] |
Chr16:15704041 [GRCh38]
Chr16:15797898 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.5083-1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002259375]|not provided [RCV000996216] |
Chr16:15719309 [GRCh38]
Chr16:15813166 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic |
| NM_002474.3(MYH11):c.2518A>G (p.Lys840Glu) |
single nucleotide variant |
not provided [RCV000996225] |
Chr16:15745131 [GRCh38]
Chr16:15838988 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3 |
copy number gain |
not provided [RCV000996424] |
Chr16:14927709..16367932 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4728C>T (p.Phe1576=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559030]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182513] |
Chr16:15720902 [GRCh38]
Chr16:15814759 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4037A>G (p.Asn1346Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182588] |
Chr16:15724726 [GRCh38]
Chr16:15818583 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-3355C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117664]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181707] |
Chr16:15720836 [GRCh38]
Chr16:15814693 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.*1383G>A |
single nucleotide variant |
Lissencephaly 4 [RCV001121425] |
Chr16:15725634 [GRCh38]
Chr16:15819491 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3821C>T (p.Ala1274Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001121522] |
Chr16:15726885 [GRCh38]
Chr16:15820742 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.978A>T (p.Lys326Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175731] |
Chr16:15724221 [GRCh38]
Chr16:15818078 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.727-8G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175993] |
Chr16:15778851 [GRCh38]
Chr16:15872708 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.834G>A (p.Glu278=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183441] |
Chr16:15776133 [GRCh38]
Chr16:15869990 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1000G>T (p.Ala334Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183491] |
Chr16:15771602 [GRCh38]
Chr16:15865459 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14897625-16514111)x1 |
copy number loss |
not provided [RCV001006772] |
Chr16:14897625..16514111 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1 |
copy number loss |
not provided [RCV001006778] |
Chr16:15416364..18231275 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| NM_002474.3(MYH11):c.4668A>G (p.Gln1556=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176267] |
Chr16:15720962 [GRCh38]
Chr16:15814819 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3436G>A (p.Glu1146Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183675] |
Chr16:15735436 [GRCh38]
Chr16:15829293 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3223C>T (p.Gln1075Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176423] |
Chr16:15737519 [GRCh38]
Chr16:15831376 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3879A>G (p.Thr1293=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001463454]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183783] |
Chr16:15724972 [GRCh38]
Chr16:15818829 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5357C>T (p.Ala1786Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001206667]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183794] |
Chr16:15717287 [GRCh38]
Chr16:15811144 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1065G>C (p.Gln355His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001118189]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186281] |
Chr16:15763860 [GRCh38]
Chr16:15857717 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.-87C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001118306] |
Chr16:15857010 [GRCh38]
Chr16:15950867 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5224G>C (p.Glu1742Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559696]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176554] |
Chr16:15718386 [GRCh38]
Chr16:15812243 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5092_5093delinsAG (p.Ala1698Ser) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184353]|not provided [RCV003132253] |
Chr16:15719298..15719299 [GRCh38]
Chr16:15813155..15813156 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1822A>G (p.Asn608Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177202] |
Chr16:15753436 [GRCh38]
Chr16:15847293 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5489_5497del (p.Val1830_Gln1832del) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184808] |
Chr16:15717147..15717155 [GRCh38]
Chr16:15811004..15811012 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2535G>C (p.Leu845=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001478536]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177754] |
Chr16:15741877 [GRCh38]
Chr16:15835734 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2181-7T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177757] |
Chr16:15747950 [GRCh38]
Chr16:15841807 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-4052A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116219] |
Chr16:15720139 [GRCh38]
Chr16:15813996 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3183G>T (p.Glu1061Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185151] |
Chr16:15737559 [GRCh38]
Chr16:15831416 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[1] (p.1741LEEE[1]) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV003629173]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185209]|not provided [RCV003132254] |
Chr16:15718365..15718376 [GRCh38]
Chr16:15812222..15812233 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.736A>G (p.Ile246Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185281] |
Chr16:15778834 [GRCh38]
Chr16:15872691 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5397C>T (p.Ser1799=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177991] |
Chr16:15717247 [GRCh38]
Chr16:15811104 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1128A>C (p.Thr376=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178035] |
Chr16:15763797 [GRCh38]
Chr16:15857654 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+7276A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119046] |
Chr16:15704136 [GRCh38]
Chr16:15797993 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2574G>A (p.Glu858=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067964]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185451] |
Chr16:15741838 [GRCh38]
Chr16:15835695 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2970G>A (p.Met990Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185683] |
Chr16:15740078 [GRCh38]
Chr16:15833935 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.-12C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178451] |
Chr16:15838264 [GRCh38]
Chr16:15932121 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3652-15T>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180884] |
Chr16:15727069 [GRCh38]
Chr16:15820926 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*1952A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119519]|Lissencephaly 4 [RCV001119520] |
Chr16:15726203 [GRCh38]
Chr16:15820060 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3824G>A (p.Arg1275Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001119523] |
Chr16:15726882 [GRCh38]
Chr16:15820739 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4154G>T (p.Ser1385Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180762] |
Chr16:15724372 [GRCh38]
Chr16:15818229 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.809G>C (p.Arg270Pro) |
single nucleotide variant |
not specified [RCV003230944] |
Chr16:15776158 [GRCh38]
Chr16:15870015 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1313C>A (p.Thr438Asn) |
single nucleotide variant |
not provided [RCV003231978] |
Chr16:15759664 [GRCh38]
Chr16:15853521 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.874A>G (p.Lys292Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003273952] |
Chr16:15776093 [GRCh38]
Chr16:15869950 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4590G>A (p.Leu1530=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514508]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528312]|not provided [RCV001559967] |
Chr16:15721040 [GRCh38]
Chr16:15814897 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.45T>C (p.Phe15=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002073194]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334643]|not provided [RCV001683949] |
Chr16:15838208 [GRCh38]
Chr16:15932065 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1249-25G>A |
single nucleotide variant |
not provided [RCV001588420] |
Chr16:15759753 [GRCh38]
Chr16:15853610 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2997+302A>C |
single nucleotide variant |
not provided [RCV001686927] |
Chr16:15739749 [GRCh38]
Chr16:15833606 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2860-218T>G |
single nucleotide variant |
not provided [RCV001608407] |
Chr16:15740406 [GRCh38]
Chr16:15834263 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-5041G>A |
single nucleotide variant |
not provided [RCV001596447] |
Chr16:15719150 [GRCh38]
Chr16:15813007 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2058+30C>T |
single nucleotide variant |
not provided [RCV001638886] |
Chr16:15750108 [GRCh38]
Chr16:15843965 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.947+12102_947+12106del |
deletion |
not provided [RCV001534486] |
Chr16:15708958..15708962 [GRCh38]
Chr16:15802815..15802819 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3507-101C>T |
single nucleotide variant |
not provided [RCV001556202] |
Chr16:15732809 [GRCh38]
Chr16:15826666 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3589dup |
duplication |
not provided [RCV001561502] |
Chr16:15720587..15720588 [GRCh38]
Chr16:15814444..15814445 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1033+237G>T |
single nucleotide variant |
not provided [RCV001687136] |
Chr16:15771332 [GRCh38]
Chr16:15865189 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-3440C>T |
single nucleotide variant |
not provided [RCV001569437] |
Chr16:15720751 [GRCh38]
Chr16:15814608 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4844C>T (p.Ala1615Val) |
single nucleotide variant |
not provided [RCV001576969] |
Chr16:15720260 [GRCh38]
Chr16:15814117 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu) |
insertion |
Aortic aneurysm, familial thoracic 4 [RCV002501957]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359199]|not provided [RCV001592030] |
Chr16:15704121..15704122 [GRCh38]
Chr16:15797978..15797979 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.530+36_530+37del |
deletion |
not provided [RCV001645885] |
Chr16:15798623..15798624 [GRCh38]
Chr16:15892480..15892481 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.-18+245dup |
duplication |
not provided [RCV001593995] |
Chr16:15856694..15856695 [GRCh38]
Chr16:15950551..15950552 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4949T>C (p.Leu1650Pro) |
single nucleotide variant |
not provided [RCV001569813] |
Chr16:15720155 [GRCh38]
Chr16:15814012 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1401+207T>G |
single nucleotide variant |
not provided [RCV001556971] |
Chr16:15759369 [GRCh38]
Chr16:15853226 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.530+25del |
deletion |
not provided [RCV001557238] |
Chr16:15798635 [GRCh38]
Chr16:15892492 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1576-97G>A |
single nucleotide variant |
not provided [RCV001570041] |
Chr16:15756611 [GRCh38]
Chr16:15850468 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1402-47A>G |
single nucleotide variant |
not provided [RCV001589466] |
Chr16:15758047 [GRCh38]
Chr16:15851904 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.890-229G>A |
single nucleotide variant |
not provided [RCV001577732] |
Chr16:15771941 [GRCh38]
Chr16:15865798 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.634-264T>C |
single nucleotide variant |
not provided [RCV001577763] |
Chr16:15782741 [GRCh38]
Chr16:15876598 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3858+190C>T |
single nucleotide variant |
not provided [RCV001571754] |
Chr16:15726658 [GRCh38]
Chr16:15820515 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+219G>A |
single nucleotide variant |
not provided [RCV001558007] |
Chr16:15759357 [GRCh38]
Chr16:15853214 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4090C>T (p.Arg1364Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002501961]|Aortic aneurysm, familial thoracic 4 [RCV002579491]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150449]|not provided [RCV001590444] |
Chr16:15724673 [GRCh38]
Chr16:15818530 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1130-40_1130-38del |
deletion |
not provided [RCV001590818] |
Chr16:15760696..15760698 [GRCh38]
Chr16:15854553..15854555 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.633+1786T>C |
single nucleotide variant |
not provided [RCV001552221] |
Chr16:15784844 [GRCh38]
Chr16:15878701 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1249-309G>A |
single nucleotide variant |
not provided [RCV001718420] |
Chr16:15760037 [GRCh38]
Chr16:15853894 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-2270A>G |
single nucleotide variant |
not provided [RCV001616373] |
Chr16:15721921 [GRCh38]
Chr16:15815778 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.947+12145C>T |
single nucleotide variant |
not provided [RCV001552457] |
Chr16:15709005 [GRCh38]
Chr16:15802862 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1248+171CCAT[4] |
microsatellite |
not provided [RCV001595721] |
Chr16:15760350..15760353 [GRCh38]
Chr16:15854207..15854210 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000865140]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190645] |
Chr16:15747636 [GRCh38]
Chr16:15841493 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity |
| NM_002474.3(MYH11):c.2412-4C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001286117] |
Chr16:15745241 [GRCh38]
Chr16:15839098 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2401T>C (p.Leu801=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001468444] |
Chr16:15747580 [GRCh38]
Chr16:15841437 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5766C>T (p.Asn1922=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000963567]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181799]|not provided [RCV001200403]|not specified [RCV001585889] |
Chr16:15714929 [GRCh38]
Chr16:15808786 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2670C>T (p.Asn890=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001498514]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434351] |
Chr16:15741652 [GRCh38]
Chr16:15835509 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1371C>A (p.Ile457=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001438635] |
Chr16:15759606 [GRCh38]
Chr16:15853463 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1827C>T (p.Ala609=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001398833]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188508] |
Chr16:15753431 [GRCh38]
Chr16:15847288 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1719T>C (p.Thr573=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001403801]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188659] |
Chr16:15756371 [GRCh38]
Chr16:15850228 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1638C>T (p.Asp546=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000921828] |
Chr16:15756452 [GRCh38]
Chr16:15850309 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3099A>G (p.Glu1033=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001416643] |
Chr16:15738587 [GRCh38]
Chr16:15832444 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4536A>G (p.Glu1512=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000864059]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175722] |
Chr16:15721464 [GRCh38]
Chr16:15815321 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4059C>T (p.Asp1353=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001434957]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177502] |
Chr16:15724704 [GRCh38]
Chr16:15818561 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2632C>A (p.Leu878Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178318] |
Chr16:15741780 [GRCh38]
Chr16:15835637 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.333A>G (p.Ser111=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185637] |
Chr16:15837920 [GRCh38]
Chr16:15931777 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3795G>C (p.Gln1265His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178501] |
Chr16:15726911 [GRCh38]
Chr16:15820768 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3035C>A (p.Thr1012Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178532] |
Chr16:15738651 [GRCh38]
Chr16:15832508 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1132G>T (p.Ala378Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185865] |
Chr16:15760656 [GRCh38]
Chr16:15854513 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5252A>T (p.Asn1751Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001225782] |
Chr16:15718358 [GRCh38]
Chr16:15812215 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15395898)_(15888585_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001032140] |
Chr16:15489755..15982442 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_017668.3(NDE1):c.962dup (p.Cys321fs) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180716] |
Chr16:15724204..15724205 [GRCh38]
Chr16:15818061..15818062 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.861G>A (p.Met287Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001068471]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176324] |
Chr16:15776106 [GRCh38]
Chr16:15869963 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4158_4159delinsTA (p.Val1387Met) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180763] |
Chr16:15724367..15724368 [GRCh38]
Chr16:15818224..15818225 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5406C>T (p.His1802=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001399370]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186945] |
Chr16:15717238 [GRCh38]
Chr16:15811095 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4669G>A (p.Ala1557Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558919]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179714]|not provided [RCV003225152] |
Chr16:15720961 [GRCh38]
Chr16:15814818 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3660G>A (p.Ala1220=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558920]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179716] |
Chr16:15727046 [GRCh38]
Chr16:15820903 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3570T>A (p.His1190Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001859122]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187020] |
Chr16:15732645 [GRCh38]
Chr16:15826502 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5683C>A (p.Arg1895Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179762] |
Chr16:15715012 [GRCh38]
Chr16:15808869 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2521-13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514474]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179783] |
Chr16:15741904 [GRCh38]
Chr16:15835761 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2950G>C (p.Glu984Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187062] |
Chr16:15740098 [GRCh38]
Chr16:15833955 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001192145]|not provided [RCV002291730] |
Chr16:15704121 [GRCh38]
Chr16:15797978 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1402-13G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069187]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192155]|not provided [RCV001567836] |
Chr16:15758013 [GRCh38]
Chr16:15851870 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3696G>A (p.Glu1232=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001192221] |
Chr16:15727010 [GRCh38]
Chr16:15820867 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3375G>A (p.Glu1125=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001192235] |
Chr16:15735497 [GRCh38]
Chr16:15829354 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1924G>A (p.Ala642Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001192265]|not provided [RCV003132255] |
Chr16:15750272 [GRCh38]
Chr16:15844129 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.22del (p.Ser8fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001192290] |
Chr16:15838231 [GRCh38]
Chr16:15932088 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5161C>A (p.Leu1721Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559211]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192306] |
Chr16:15719230 [GRCh38]
Chr16:15813087 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5747G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559031]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182523]|not provided [RCV001593313] |
Chr16:15718444 [GRCh38]
Chr16:15812301 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3280G>A (p.Ala1094Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002483995]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182822]|not provided [RCV001751327] |
Chr16:15737462 [GRCh38]
Chr16:15831319 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4518C>T (p.Asn1506=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182875] |
Chr16:15721482 [GRCh38]
Chr16:15815339 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4926A>G (p.Glu1642=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179945] |
Chr16:15720178 [GRCh38]
Chr16:15814035 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179968]|not provided [RCV001776129]|not specified [RCV001375554] |
Chr16:15717156 [GRCh38]
Chr16:15811013 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+11996G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068265]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180086] |
Chr16:15708856 [GRCh38]
Chr16:15802713 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.992C>T (p.Ser331Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180104] |
Chr16:15724235 [GRCh38]
Chr16:15818092 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1750-7T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514486]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187389] |
Chr16:15753515 [GRCh38]
Chr16:15847372 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3986G>A (p.Arg1329Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560908]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187390]|not provided [RCV001571469] |
Chr16:15724777 [GRCh38]
Chr16:15818634 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5200C>G (p.Leu1734Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180168]|Inborn genetic diseases [RCV002558940] |
Chr16:15718410 [GRCh38]
Chr16:15812267 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1038A>G (p.Ile346Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187440] |
Chr16:15763887 [GRCh38]
Chr16:15857744 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1125C>T (p.Asn375=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187448] |
Chr16:15763800 [GRCh38]
Chr16:15857657 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3892G>A (p.Glu1298Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002491495]|Aortic aneurysm, familial thoracic 4 [RCV002558799]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175965] |
Chr16:15724959 [GRCh38]
Chr16:15818816 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5551C>G (p.Leu1851Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183371] |
Chr16:15715226 [GRCh38]
Chr16:15809083 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3420G>A (p.Gln1140=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176317]|not provided [RCV003737020] |
Chr16:15735452 [GRCh38]
Chr16:15829309 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5392C>A (p.Arg1798=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183648]|not provided [RCV001655695] |
Chr16:15717252 [GRCh38]
Chr16:15811109 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2587A>G (p.Lys863Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180212] |
Chr16:15741825 [GRCh38]
Chr16:15835682 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1032A>T (p.Leu344=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001472099]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180234] |
Chr16:15771570 [GRCh38]
Chr16:15865427 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.957G>A (p.Thr319=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001480889]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180349] |
Chr16:15724200 [GRCh38]
Chr16:15818057 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1922G>A (p.Ser641Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187808] |
Chr16:15750274 [GRCh38]
Chr16:15844131 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3166C>G (p.Leu1056Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187811] |
Chr16:15737576 [GRCh38]
Chr16:15831433 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2919G>T (p.Lys973Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187870] |
Chr16:15740129 [GRCh38]
Chr16:15833986 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3364G>C (p.Asp1122His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187953] |
Chr16:15735508 [GRCh38]
Chr16:15829365 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1479C>A (p.Ile493=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188212] |
Chr16:15757923 [GRCh38]
Chr16:15851780 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2185G>A (p.Glu729Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001220045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188235] |
Chr16:15747939 [GRCh38]
Chr16:15841796 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1114A>G (p.Met372Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188289] |
Chr16:15763811 [GRCh38]
Chr16:15857668 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1847C>G (p.Ala616Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188392] |
Chr16:15753411 [GRCh38]
Chr16:15847268 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4896G>C (p.Gln1632His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170803] |
Chr16:15720208 [GRCh38]
Chr16:15814065 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5337G>A (p.Thr1779=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188564] |
Chr16:15717307 [GRCh38]
Chr16:15811164 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2025C>T (p.Phe675=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560025]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188581]|MYH11-related condition [RCV003945909] |
Chr16:15750171 [GRCh38]
Chr16:15844028 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.738C>T (p.Ile246=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188717] |
Chr16:15778832 [GRCh38]
Chr16:15872689 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3906G>A (p.Lys1302=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069048]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188823] |
Chr16:15724945 [GRCh38]
Chr16:15818802 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.506G>A (p.Arg169Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876210]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188995] |
Chr16:15798684 [GRCh38]
Chr16:15892541 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4059C>A (p.Asp1353Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001239868]|not provided [RCV001576937] |
Chr16:15724704 [GRCh38]
Chr16:15818561 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5644C>T (p.Leu1882Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189014] |
Chr16:15715051 [GRCh38]
Chr16:15808908 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2655G>A (p.Leu885=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001440084]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189104] |
Chr16:15741667 [GRCh38]
Chr16:15835524 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4431A>C (p.Glu1477Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189105] |
Chr16:15721569 [GRCh38]
Chr16:15815426 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4541A>T (p.Glu1514Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189253] |
Chr16:15721459 [GRCh38]
Chr16:15815316 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.57C>A (p.Asn19Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183946] |
Chr16:15838196 [GRCh38]
Chr16:15932053 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002555462]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176739]|not provided [RCV003442221] |
Chr16:15717153 [GRCh38]
Chr16:15811010 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.791-12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629170]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184347] |
Chr16:15776188 [GRCh38]
Chr16:15870045 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5125G>A (p.Glu1709Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002480611]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184428] |
Chr16:15719266 [GRCh38]
Chr16:15813123 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.505C>T (p.Arg169Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184436] |
Chr16:15798685 [GRCh38]
Chr16:15892542 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6521C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120916] |
Chr16:15703381 [GRCh38]
Chr16:15797238 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+6522G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120917] |
Chr16:15703382 [GRCh38]
Chr16:15797239 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1198C>T (p.Arg400Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629171]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184508] |
Chr16:15760590 [GRCh38]
Chr16:15854447 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5139G>A (p.Leu1713=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184595] |
Chr16:15719252 [GRCh38]
Chr16:15813109 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4707G>A (p.Met1569Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177284] |
Chr16:15720923 [GRCh38]
Chr16:15814780 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5356G>A (p.Ala1786Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001231149]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184807] |
Chr16:15717288 [GRCh38]
Chr16:15811145 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1852C>T (p.Leu618=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177659]|not specified [RCV001193453] |
Chr16:15753406 [GRCh38]
Chr16:15847263 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3818G>A (p.Arg1273Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002480598]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177662]|not provided [RCV003317441] |
Chr16:15726888 [GRCh38]
Chr16:15820745 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5150T>C (p.Leu1717Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184949] |
Chr16:15719241 [GRCh38]
Chr16:15813098 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3885G>T (p.Met1295Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189505] |
Chr16:15724966 [GRCh38]
Chr16:15818823 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1830C>T (p.Ser610=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189517] |
Chr16:15753428 [GRCh38]
Chr16:15847285 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1635G>T (p.Thr545=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189552] |
Chr16:15756455 [GRCh38]
Chr16:15850312 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5118G>A (p.Ala1706=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001456323]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189623] |
Chr16:15719273 [GRCh38]
Chr16:15813130 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1897A>C (p.Lys633Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189753] |
Chr16:15750299 [GRCh38]
Chr16:15844156 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5298C>T (p.Ala1766=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001392574]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189777] |
Chr16:15717346 [GRCh38]
Chr16:15811203 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1983G>A (p.Leu661=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189811] |
Chr16:15750213 [GRCh38]
Chr16:15844070 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5010G>C (p.Glu1670Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001116217]|Lissencephaly 4 [RCV001116218] |
Chr16:15719657 [GRCh38]
Chr16:15813514 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4690C>A (p.Arg1564=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560848]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183860] |
Chr16:15720940 [GRCh38]
Chr16:15814797 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3285C>T (p.Ala1095=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185145] |
Chr16:15737457 [GRCh38]
Chr16:15831314 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4825C>A (p.Arg1609=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559894]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185177]|not provided [RCV003311956] |
Chr16:15720279 [GRCh38]
Chr16:15814136 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2855T>C (p.Met952Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185189]|not provided [RCV002298889] |
Chr16:15741467 [GRCh38]
Chr16:15835324 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.281C>G (p.Thr94Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185334] |
Chr16:15837972 [GRCh38]
Chr16:15931829 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.93C>T (p.Ala31=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067960]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185336]|not provided [RCV001776132] |
Chr16:15838160 [GRCh38]
Chr16:15932017 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5256G>A (p.Met1752Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189850] |
Chr16:15718354 [GRCh38]
Chr16:15812211 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001328954]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190067] |
Chr16:15715249 [GRCh38]
Chr16:15809106 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3667G>C (p.Asp1223His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001863012]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190105] |
Chr16:15727039 [GRCh38]
Chr16:15820896 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1656C>T |
single nucleotide variant |
Lissencephaly 4 [RCV001116534] |
Chr16:15725907 [GRCh38]
Chr16:15819764 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1674A>C |
single nucleotide variant |
Lissencephaly 4 [RCV001116536] |
Chr16:15725925 [GRCh38]
Chr16:15819782 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4253T>A (p.Leu1418Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001224379]|Familial thoracic aortic aneurysm and aortic dissection [RCV003373055] |
Chr16:15724273 [GRCh38]
Chr16:15818130 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4850C>T (p.Ala1617Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001219737]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185699] |
Chr16:15720254 [GRCh38]
Chr16:15814111 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5340C>T (p.Ala1780=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190292] |
Chr16:15717304 [GRCh38]
Chr16:15811161 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1617C>T (p.Cys539=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190322] |
Chr16:15756473 [GRCh38]
Chr16:15850330 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2030G>A (p.Arg677His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190360]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001449892] |
Chr16:15750166 [GRCh38]
Chr16:15844023 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.1587A>C (p.Pro529=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190371] |
Chr16:15756503 [GRCh38]
Chr16:15850360 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1834G>A (p.Asp612Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560953]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190465] |
Chr16:15753424 [GRCh38]
Chr16:15847281 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2925G>T (p.Thr975=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069121]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190546] |
Chr16:15740123 [GRCh38]
Chr16:15833980 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178658]|not provided [RCV002280162] |
Chr16:15704077 [GRCh38]
Chr16:15797934 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5750_948-5749delinsAC |
indel |
Aortic aneurysm, familial thoracic 4 [RCV003514483]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185934] |
Chr16:15718441..15718442 [GRCh38]
Chr16:15812298..15812299 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1203C>T (p.Ile401=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178768] |
Chr16:15760585 [GRCh38]
Chr16:15854442 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.342A>T (p.Ile114=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001495684]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178770]|not provided [RCV001712871] |
Chr16:15837911 [GRCh38]
Chr16:15931768 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2877G>A (p.Leu959=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190621] |
Chr16:15740171 [GRCh38]
Chr16:15834028 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.531-11G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560091]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190692] |
Chr16:15786743 [GRCh38]
Chr16:15880600 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.658C>A (p.Gln220Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190781] |
Chr16:15782453 [GRCh38]
Chr16:15876310 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3873C>G (p.Ser1291Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001240491]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190799]|not provided [RCV001760144] |
Chr16:15724978 [GRCh38]
Chr16:15818835 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1121A>G (p.Asp374Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002497666]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190813] |
Chr16:15763804 [GRCh38]
Chr16:15857661 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5269G>T (p.Asp1757Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190822] |
Chr16:15718341 [GRCh38]
Chr16:15812198 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4728C>A (p.Phe1576Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190836] |
Chr16:15720902 [GRCh38]
Chr16:15814759 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.28G>T (p.Asp10Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190837] |
Chr16:15838225 [GRCh38]
Chr16:15932082 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3397G>A (p.Ala1133Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876235]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190928]|not provided [RCV002307695] |
Chr16:15735475 [GRCh38]
Chr16:15829332 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5836T>A (p.Ter1946Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190973] |
Chr16:15708813 [GRCh38]
Chr16:15802670 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5863G>A (p.Glu1955Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190978] |
Chr16:15704047 [GRCh38]
Chr16:15797904 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4890G>C (p.Glu1630Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001863027]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190987] |
Chr16:15720214 [GRCh38]
Chr16:15814071 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1119A>G (p.Pro373=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175750] |
Chr16:15763806 [GRCh38]
Chr16:15857663 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4578C>T (p.Asn1526=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876093]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183253] |
Chr16:15721422 [GRCh38]
Chr16:15815279 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.181G>C (p.Glu61Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183283] |
Chr16:15838072 [GRCh38]
Chr16:15931929 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4412G>A (p.Arg1471Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175997] |
Chr16:15721588 [GRCh38]
Chr16:15815445 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176001]|not provided [RCV003490097] |
Chr16:15704029 [GRCh38]
Chr16:15797886 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2561T>G (p.Met854Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558803]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176031] |
Chr16:15741851 [GRCh38]
Chr16:15835708 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3485C>T (p.Thr1162Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183394] |
Chr16:15735387 [GRCh38]
Chr16:15829244 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.503-12T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629167]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183494] |
Chr16:15798699 [GRCh38]
Chr16:15892556 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.2412-15T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514470]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176323] |
Chr16:15745252 [GRCh38]
Chr16:15839109 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2940C>G (p.Ile980Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181669] |
Chr16:15740108 [GRCh38]
Chr16:15833965 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001045607]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348372] |
Chr16:15715068 [GRCh38]
Chr16:15808925 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1355C>T (p.Ala452Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180987] |
Chr16:15759622 [GRCh38]
Chr16:15853479 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-36C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514476]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180989] |
Chr16:15724155 [GRCh38]
Chr16:15818012 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4203C>G (p.Ile1401Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186199] |
Chr16:15724323 [GRCh38]
Chr16:15818180 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3963+2T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514489]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191009] |
Chr16:15724886 [GRCh38]
Chr16:15818743 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.3387A>C (p.Ser1129=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191065] |
Chr16:15735485 [GRCh38]
Chr16:15829342 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3342G>C (p.Arg1114=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514471]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176428] |
Chr16:15735530 [GRCh38]
Chr16:15829387 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-8C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183927] |
Chr16:15745245 [GRCh38]
Chr16:15839102 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2226C>T (p.Asp742=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876127]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184100] |
Chr16:15747898 [GRCh38]
Chr16:15841755 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3098A>C (p.Glu1033Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184112] |
Chr16:15738588 [GRCh38]
Chr16:15832445 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.633G>T (p.Thr211=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176826] |
Chr16:15786630 [GRCh38]
Chr16:15880487 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3735G>C (p.Gln1245His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186420] |
Chr16:15726971 [GRCh38]
Chr16:15820828 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5772C>T (p.Leu1924=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186435] |
Chr16:15714923 [GRCh38]
Chr16:15808780 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*755G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629158]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179171] |
Chr16:15725006 [GRCh38]
Chr16:15818863 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5412G>A (p.Met1804Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186505] |
Chr16:15717232 [GRCh38]
Chr16:15811089 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+11988_947+11991del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003629176]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186377] |
Chr16:15708847..15708850 [GRCh38]
Chr16:15802704..15802707 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5099A>T (p.Glu1700Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179242] |
Chr16:15719292 [GRCh38]
Chr16:15813149 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5852C>T (p.Ala1951Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179243] |
Chr16:15704058 [GRCh38]
Chr16:15797915 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.-14A>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179249] |
Chr16:15838266 [GRCh38]
Chr16:15932123 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2197G>A (p.Ala733Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002497646]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186554] |
Chr16:15747927 [GRCh38]
Chr16:15841784 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1875C>T (p.Ile625=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069159]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191593] |
Chr16:15750321 [GRCh38]
Chr16:15844178 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5260G>A (p.Ala1754Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191609] |
Chr16:15718350 [GRCh38]
Chr16:15812207 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3711C>T (p.Ala1237=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069166]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191716] |
Chr16:15726995 [GRCh38]
Chr16:15820852 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.561C>T (p.Asn187=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191720] |
Chr16:15786702 [GRCh38]
Chr16:15880559 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2364T>C (p.Asp788=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184621] |
Chr16:15747617 [GRCh38]
Chr16:15841474 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2408G>A (p.Arg803Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876157]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184880] |
Chr16:15747573 [GRCh38]
Chr16:15841430 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4510C>T (p.Arg1504Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002555475]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177648]|Inborn genetic diseases [RCV002559730] |
Chr16:15721490 [GRCh38]
Chr16:15815347 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4122C>T (p.Ser1374=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001493012]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185011] |
Chr16:15724404 [GRCh38]
Chr16:15818261 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1130-11T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185126] |
Chr16:15760669 [GRCh38]
Chr16:15854526 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4758G>C (p.Gln1586His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001875934]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179349] |
Chr16:15720872 [GRCh38]
Chr16:15814729 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.346-12C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186712] |
Chr16:15823423 [GRCh38]
Chr16:15917280 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.1001C>G (p.Ser334Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179440] |
Chr16:15724244 [GRCh38]
Chr16:15818101 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2412-15T>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179489] |
Chr16:15745252 [GRCh38]
Chr16:15839109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4904C>G (p.Ser1635Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186761] |
Chr16:15720200 [GRCh38]
Chr16:15814057 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4187G>A (p.Arg1396Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001297581]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179562] |
Chr16:15724339 [GRCh38]
Chr16:15818196 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.531-2A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191725] |
Chr16:15786734 [GRCh38]
Chr16:15880591 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3705C>G (p.Asp1235Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191741] |
Chr16:15727001 [GRCh38]
Chr16:15820858 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1033+6C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560133]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191853] |
Chr16:15771563 [GRCh38]
Chr16:15865420 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5264T>A (p.Met1755Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191873] |
Chr16:15718346 [GRCh38]
Chr16:15812203 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5288C>T (p.Thr1763Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001863043]|Aortic aneurysm, familial thoracic 4 [RCV002484055]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191891]|not provided [RCV003232222] |
Chr16:15718322 [GRCh38]
Chr16:15812179 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.282G>A (p.Thr94=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069176]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192008] |
Chr16:15837971 [GRCh38]
Chr16:15931828 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+7127T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001192020] |
Chr16:15703987 [GRCh38]
Chr16:15797844 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4668A>C (p.Gln1556His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560139]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192058] |
Chr16:15720962 [GRCh38]
Chr16:15814819 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4241_4242delinsTG (p.Ala1414Val) |
indel |
Aortic aneurysm, familial thoracic 4 [RCV001863046]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192060] |
Chr16:15724284..15724285 [GRCh38]
Chr16:15818141..15818142 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5155A>C (p.Ser1719Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001121133] |
Chr16:15719236 [GRCh38]
Chr16:15813093 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1664C>T (p.Thr555Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177941] |
Chr16:15756426 [GRCh38]
Chr16:15850283 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2281T>C (p.Tyr761His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177956] |
Chr16:15747700 [GRCh38]
Chr16:15841557 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4713G>C (p.Ala1571=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068410]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185357] |
Chr16:15720917 [GRCh38]
Chr16:15814774 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4994G>A (p.Arg1665His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629175]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185434] |
Chr16:15719673 [GRCh38]
Chr16:15813530 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1929C>T (p.Ser643=) |
single nucleotide variant |
not specified [RCV001192751] |
Chr16:15750267 [GRCh38]
Chr16:15844124 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1513G>A (p.Glu505Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001373986]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185517] |
Chr16:15757889 [GRCh38]
Chr16:15851746 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5517G>C (p.Ala1839=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV000934394] |
Chr16:15715260 [GRCh38]
Chr16:15809117 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.583C>T (p.Leu195=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001496709] |
Chr16:15786680 [GRCh38]
Chr16:15880537 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*898A>G |
single nucleotide variant |
not provided [RCV001577183] |
Chr16:15725149 [GRCh38]
Chr16:15819006 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3162G>A (p.Glu1054=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002771012] |
Chr16:15737580 [GRCh38]
Chr16:15831437 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15481748-16330672)x1 |
copy number loss |
not provided [RCV002472866] |
Chr16:15481748..16330672 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1749+232_1749+233del |
deletion |
not provided [RCV001559092] |
Chr16:15756108..15756109 [GRCh38]
Chr16:15849965..15849966 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5545A>G (p.Lys1849Glu) |
single nucleotide variant |
not provided [RCV001559598] |
Chr16:15715232 [GRCh38]
Chr16:15809089 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-6620A>G |
single nucleotide variant |
not provided [RCV001676241] |
Chr16:15717571 [GRCh38]
Chr16:15811428 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1249-161C>T |
single nucleotide variant |
not provided [RCV001565457] |
Chr16:15759889 [GRCh38]
Chr16:15853746 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15476224-16330672)x1 |
copy number loss |
not provided [RCV002472633] |
Chr16:15476224..16330672 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2997+290dup |
duplication |
not provided [RCV001566356] |
Chr16:15739747..15739748 [GRCh38]
Chr16:15833604..15833605 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3847_3849del (p.His1283del) |
deletion |
not provided [RCV003231846] |
Chr16:15726857..15726859 [GRCh38]
Chr16:15820714..15820716 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5694C>A |
single nucleotide variant |
not provided [RCV001555828] |
Chr16:15718497 [GRCh38]
Chr16:15812354 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1248+281T>C |
single nucleotide variant |
not provided [RCV001556193] |
Chr16:15760259 [GRCh38]
Chr16:15854116 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 |
copy number gain |
not provided [RCV002472599] |
Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1 |
copy number loss |
not provided [RCV002473940] |
Chr16:14780544..16330627 [GRCh37]
Chr16:16p13.12-13.11 |
pathogenic |
| NM_002474.3(MYH11):c.345+154G>A |
single nucleotide variant |
not provided [RCV001675017] |
Chr16:15837754 [GRCh38]
Chr16:15931611 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.345+131A>G |
single nucleotide variant |
not provided [RCV001685004] |
Chr16:15837777 [GRCh38]
Chr16:15931634 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.-18+39C>G |
single nucleotide variant |
not provided [RCV001674534] |
Chr16:15856902 [GRCh38]
Chr16:15950759 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1576-280del |
deletion |
not provided [RCV001713974] |
Chr16:15756794 [GRCh38]
Chr16:15850651 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.-18+206T>C |
single nucleotide variant |
not provided [RCV001674708] |
Chr16:15856735 [GRCh38]
Chr16:15950592 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.791-119C>T |
single nucleotide variant |
not provided [RCV001545505] |
Chr16:15776295 [GRCh38]
Chr16:15870152 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.530+36G>T |
single nucleotide variant |
not provided [RCV001657409] |
Chr16:15798624 [GRCh38]
Chr16:15892481 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.12-13.11(chr16:14770672-16388343)x1 |
copy number loss |
not provided [RCV001006768] |
Chr16:14770672..16388343 [GRCh37]
Chr16:16p13.12-13.11 |
pathogenic |
| NM_002474.3(MYH11):c.531-160A>G |
single nucleotide variant |
not provided [RCV001696737] |
Chr16:15786892 [GRCh38]
Chr16:15880749 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1749+206C>T |
single nucleotide variant |
not provided [RCV001545244] |
Chr16:15756135 [GRCh38]
Chr16:15849992 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3294-10del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002573258]|not provided [RCV001580116] |
Chr16:15735588 [GRCh38]
Chr16:15829445 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+308C>T |
single nucleotide variant |
not provided [RCV001650565] |
Chr16:15759268 [GRCh38]
Chr16:15853125 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.530+103A>C |
single nucleotide variant |
not provided [RCV001658687] |
Chr16:15798557 [GRCh38]
Chr16:15892414 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2059-209A>T |
single nucleotide variant |
not provided [RCV001654586] |
Chr16:15748377 [GRCh38]
Chr16:15842234 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3455A>G (p.Lys1152Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629192]|not provided [RCV001592386] |
Chr16:15735417 [GRCh38]
Chr16:15829274 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1576-301dup |
duplication |
not provided [RCV001678460] |
Chr16:15756793..15756794 [GRCh38]
Chr16:15850650..15850651 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.-18+151C>T |
single nucleotide variant |
not provided [RCV001716174] |
Chr16:15856790 [GRCh38]
Chr16:15950647 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.947+7073dup |
duplication |
not provided [RCV001716226] |
Chr16:15703925..15703926 [GRCh38]
Chr16:15797782..15797783 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1316G>A (p.Arg439His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629165]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183173] |
Chr16:15759661 [GRCh38]
Chr16:15853518 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5617G>C (p.Glu1873Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175954] |
Chr16:15715078 [GRCh38]
Chr16:15808935 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3615G>A (p.Val1205=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068160]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176014]|not provided [RCV002068161] |
Chr16:15732600 [GRCh38]
Chr16:15826457 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.998G>C (p.Ser333Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001304159]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176105] |
Chr16:15724241 [GRCh38]
Chr16:15818098 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.993G>C (p.Ser331=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183513] |
Chr16:15724236 [GRCh38]
Chr16:15818093 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5812C>T (p.Pro1938Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183603] |
Chr16:15708837 [GRCh38]
Chr16:15802694 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1401+4C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183647] |
Chr16:15759572 [GRCh38]
Chr16:15853429 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.210G>A (p.Thr70=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629169]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183777] |
Chr16:15838043 [GRCh38]
Chr16:15931900 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3402G>A (p.Arg1134=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176471] |
Chr16:15735470 [GRCh38]
Chr16:15829327 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5500G>A (p.Ala1834Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558829]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176729] |
Chr16:15717144 [GRCh38]
Chr16:15811001 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001315848]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176846]|not provided [RCV001811682] |
Chr16:15741598 [GRCh38]
Chr16:15835455 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2393G>A (p.Arg798His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876140]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184533]|not provided [RCV002298887] |
Chr16:15747588 [GRCh38]
Chr16:15841445 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1018G>A (p.Glu340Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184593] |
Chr16:15771584 [GRCh38]
Chr16:15865441 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4514C>T (p.Thr1505Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180413] |
Chr16:15721486 [GRCh38]
Chr16:15815343 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1431C>T (p.Asn477=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187722] |
Chr16:15757971 [GRCh38]
Chr16:15851828 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5634G>A (p.Arg1878=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180465] |
Chr16:15715061 [GRCh38]
Chr16:15808918 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1924G>C (p.Ala642Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187740] |
Chr16:15750272 [GRCh38]
Chr16:15844129 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5850T>C (p.Asn1950=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180470] |
Chr16:15704060 [GRCh38]
Chr16:15797917 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3159G>A (p.Leu1053=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180480] |
Chr16:15737583 [GRCh38]
Chr16:15831440 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4375G>A (p.Glu1459Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177519] |
Chr16:15721625 [GRCh38]
Chr16:15815482 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.391C>G (p.Leu131Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001371954]|Aortic aneurysm, familial thoracic 4 [RCV002480595]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177526]|not provided [RCV002284468] |
Chr16:15823366 [GRCh38]
Chr16:15917223 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1437C>G (p.Thr479=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184943] |
Chr16:15757965 [GRCh38]
Chr16:15851822 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5179C>T (p.Leu1727Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184954] |
Chr16:15718431 [GRCh38]
Chr16:15812288 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3840C>T (p.Asp1280=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514472]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177781] |
Chr16:15726866 [GRCh38]
Chr16:15820723 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.915C>G (p.Asn305Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187816] |
Chr16:15771687 [GRCh38]
Chr16:15865544 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5163G>T (p.Leu1721=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001503598]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187881]|not provided [RCV003737024] |
Chr16:15719228 [GRCh38]
Chr16:15813085 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1981C>T (p.Leu661=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187945] |
Chr16:15750215 [GRCh38]
Chr16:15844072 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4674G>T (p.Thr1558=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188052] |
Chr16:15720956 [GRCh38]
Chr16:15814813 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.415G>A (p.Val139Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001239694]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177856]|not provided [RCV002307690] |
Chr16:15823342 [GRCh38]
Chr16:15917199 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.3507-8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559079]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185156] |
Chr16:15732716 [GRCh38]
Chr16:15826573 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3391C>T (p.Arg1131Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629153]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177879]|Isolated thoracic aortic aneurysm [RCV001374831] |
Chr16:15735481 [GRCh38]
Chr16:15829338 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5742G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629154]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177896] |
Chr16:15718449 [GRCh38]
Chr16:15812306 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.60C>T (p.Phe20=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177899] |
Chr16:15838193 [GRCh38]
Chr16:15932050 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4849G>A (p.Ala1617Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177911] |
Chr16:15720255 [GRCh38]
Chr16:15814112 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2195C>T (p.Ala732Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177945] |
Chr16:15747929 [GRCh38]
Chr16:15841786 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2521-10G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001424649]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177994] |
Chr16:15741901 [GRCh38]
Chr16:15835758 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1576-14C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188376] |
Chr16:15756528 [GRCh38]
Chr16:15850385 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.202A>G (p.Lys68Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188411] |
Chr16:15838051 [GRCh38]
Chr16:15931908 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2181-4C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188464] |
Chr16:15747947 [GRCh38]
Chr16:15841804 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3650G>A (p.Arg1217Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188480] |
Chr16:15732565 [GRCh38]
Chr16:15826422 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4369T>C (p.Leu1457=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001188542] |
Chr16:15721631 [GRCh38]
Chr16:15815488 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3122T>C (p.Val1041Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514487]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188555] |
Chr16:15737620 [GRCh38]
Chr16:15831477 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1864+8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003224525]|Aortic aneurysm, familial thoracic 4 [RCV003629182]|not specified [RCV001192749] |
Chr16:15753386 [GRCh38]
Chr16:15847243 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_001040113.2(MYH11):c.644C>G (p.Ser215Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185438] |
Chr16:15784708 [GRCh38]
Chr16:15878565 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1346G>A (p.Arg449Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514488]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188726] |
Chr16:15759631 [GRCh38]
Chr16:15853488 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4786A>G (p.Arg1596Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001859133]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188780] |
Chr16:15720844 [GRCh38]
Chr16:15814701 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3603C>T (p.His1201=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069051]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188937] |
Chr16:15732612 [GRCh38]
Chr16:15826469 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15481920-16516109)x3 |
copy number gain |
not provided [RCV001006780] |
Chr16:15481920..16516109 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001209]|Aortic aneurysm, familial thoracic 4 [RCV002489506]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179319]|not provided [RCV002223964] |
Chr16:15726898 [GRCh38]
Chr16:15820755 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2859+3A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189096] |
Chr16:15741460 [GRCh38]
Chr16:15835317 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1575+4A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189107] |
Chr16:15757823 [GRCh38]
Chr16:15851680 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4943G>A (p.Arg1648His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629178]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189257] |
Chr16:15720161 [GRCh38]
Chr16:15814018 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1402-7T>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189258] |
Chr16:15758007 [GRCh38]
Chr16:15851864 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5224GAG[2] (p.Glu1744del) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV001859136]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189447] |
Chr16:15718378..15718380 [GRCh38]
Chr16:15812235..15812237 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1078G>A (p.Val360Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001118188]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192108]|Inborn genetic diseases [RCV001266371]|not specified [RCV003331046] |
Chr16:15763847 [GRCh38]
Chr16:15857704 [GRCh37]
Chr16:16p13.11 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2383G>A (p.Ala795Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178513] |
Chr16:15747598 [GRCh38]
Chr16:15841455 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2746A>G (p.Lys916Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185889] |
Chr16:15741576 [GRCh38]
Chr16:15835433 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1993A>G (p.Met665Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002483971]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178618] |
Chr16:15750203 [GRCh38]
Chr16:15844060 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.726+6T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185898] |
Chr16:15782379 [GRCh38]
Chr16:15876236 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3652-14G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003769930]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178646] |
Chr16:15727068 [GRCh38]
Chr16:15820925 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1594C>T (p.Leu532=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558884]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178656] |
Chr16:15756496 [GRCh38]
Chr16:15850353 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3435C>T (p.Gly1145=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178682]|MYH11-related condition [RCV003898175] |
Chr16:15735437 [GRCh38]
Chr16:15829294 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1130-13T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629156]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178720]|not specified [RCV003396792] |
Chr16:15760671 [GRCh38]
Chr16:15854528 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4427C>G (p.Ala1476Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002505760]|Aortic aneurysm, familial thoracic 4 [RCV002555494]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178733]|MYH11-related condition [RCV003425979]|not provided [RCV001574594] |
Chr16:15721573 [GRCh38]
Chr16:15815430 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1782G>A (p.Lys594=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068427]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186012]|not provided [RCV001531232] |
Chr16:15753476 [GRCh38]
Chr16:15847333 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4129AAG[2] (p.Lys1379del) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186027] |
Chr16:15724389..15724391 [GRCh38]
Chr16:15818246..15818248 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2673G>A (p.Leu891=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186030] |
Chr16:15741649 [GRCh38]
Chr16:15835506 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3086A>G (p.Lys1029Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178744] |
Chr16:15738600 [GRCh38]
Chr16:15832457 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2788C>T (p.Arg930Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629157]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178753] |
Chr16:15741534 [GRCh38]
Chr16:15835391 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4651C>T (p.Leu1551=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178756] |
Chr16:15720979 [GRCh38]
Chr16:15814836 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1553G>A (p.Cys518Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177439] |
Chr16:15757849 [GRCh38]
Chr16:15851706 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-3869G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558854]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177504] |
Chr16:15720322 [GRCh38]
Chr16:15814179 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4579G>T (p.Val1527Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189579] |
Chr16:15721051 [GRCh38]
Chr16:15814908 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5209C>T (p.Arg1737Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001863002]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189695] |
Chr16:15718401 [GRCh38]
Chr16:15812258 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5374C>T (p.Arg1792Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560060]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189756]|Inborn genetic diseases [RCV002560061] |
Chr16:15717270 [GRCh38]
Chr16:15811127 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1003A>G (p.Ile335Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189783] |
Chr16:15771599 [GRCh38]
Chr16:15865456 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.589G>A (p.Val197Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001072061]|Aortic aneurysm, familial thoracic 4 [RCV002482149]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186482] |
Chr16:15786674 [GRCh38]
Chr16:15880531 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4480G>C (p.Glu1494Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186095] |
Chr16:15721520 [GRCh38]
Chr16:15815377 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1129+6T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186110] |
Chr16:15763790 [GRCh38]
Chr16:15857647 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.423G>A (p.Met141Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186111] |
Chr16:15823334 [GRCh38]
Chr16:15917191 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5404_5406del (p.His1802del) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186138] |
Chr16:15717238..15717240 [GRCh38]
Chr16:15811095..15811097 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.151A>G (p.Lys51Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186178] |
Chr16:15838102 [GRCh38]
Chr16:15931959 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5220G>T (p.Gln1740His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178899] |
Chr16:15718390 [GRCh38]
Chr16:15812247 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2251-9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068430]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186184] |
Chr16:15747739 [GRCh38]
Chr16:15841596 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.666C>T (p.Asn222=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178903] |
Chr16:15782445 [GRCh38]
Chr16:15876302 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2628G>A (p.Lys876=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629174]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185392] |
Chr16:15741784 [GRCh38]
Chr16:15835641 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.345+6T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178379] |
Chr16:15837902 [GRCh38]
Chr16:15931759 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4146C>T (p.Asp1382=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560070]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190026] |
Chr16:15724380 [GRCh38]
Chr16:15818237 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4021C>T (p.Leu1341=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190043] |
Chr16:15724742 [GRCh38]
Chr16:15818599 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.994G>T (p.Ala332Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001190076] |
Chr16:15771608 [GRCh38]
Chr16:15865465 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1178C>T (p.Thr393Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629179]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190227] |
Chr16:15760610 [GRCh38]
Chr16:15854467 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.273G>A (p.Ala91=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067917]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181162] |
Chr16:15837980 [GRCh38]
Chr16:15931837 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.291C>A (p.Asn97Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181184] |
Chr16:15837962 [GRCh38]
Chr16:15931819 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3832C>G (p.Leu1278Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178937] |
Chr16:15726874 [GRCh38]
Chr16:15820731 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5808C>T (p.Phe1936=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186271] |
Chr16:15704102 [GRCh38]
Chr16:15797959 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5748C>G (p.Ala1916=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186278] |
Chr16:15714947 [GRCh38]
Chr16:15808804 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1402-8G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002505761]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178982] |
Chr16:15758008 [GRCh38]
Chr16:15851865 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5255T>C (p.Met1752Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186372] |
Chr16:15718355 [GRCh38]
Chr16:15812212 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4114C>A (p.Gln1372Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186380] |
Chr16:15724649 [GRCh38]
Chr16:15818506 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182424] |
Chr16:15703998 [GRCh38]
Chr16:15797855 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876059]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182525]|MYH11-related condition [RCV003918763]|not specified [RCV001193456] |
Chr16:15738582 [GRCh38]
Chr16:15832439 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5370C>G (p.Leu1790=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182543]|not provided [RCV001702885] |
Chr16:15717274 [GRCh38]
Chr16:15811131 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069123]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190592]|not provided [RCV001579752] |
Chr16:15708838 [GRCh38]
Chr16:15802695 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3652-12T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514480]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184053] |
Chr16:15727066 [GRCh38]
Chr16:15820923 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5864A>T (p.Glu1955Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184147] |
Chr16:15704046 [GRCh38]
Chr16:15797903 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001285384]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176852]|not provided [RCV002281166] |
Chr16:15741812 [GRCh38]
Chr16:15835669 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4566C>T (p.Asp1522=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001501680]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184245]|not provided [RCV001540276] |
Chr16:15721434 [GRCh38]
Chr16:15815291 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5633G>C (p.Arg1878Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184270] |
Chr16:15715062 [GRCh38]
Chr16:15808919 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2371A>G (p.Met791Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001204630]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176985] |
Chr16:15747610 [GRCh38]
Chr16:15841467 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2521-10G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001222977]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177131] |
Chr16:15741901 [GRCh38]
Chr16:15835758 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.947+7270G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181214] |
Chr16:15704130 [GRCh38]
Chr16:15797987 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.366C>T (p.Cys122=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068237]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179166] |
Chr16:15823391 [GRCh38]
Chr16:15917248 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4798G>A (p.Glu1600Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175669] |
Chr16:15720306 [GRCh38]
Chr16:15814163 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5496G>C (p.Gln1832His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002491494]|Aortic aneurysm, familial thoracic 4 [RCV003629150]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175730] |
Chr16:15717148 [GRCh38]
Chr16:15811005 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4358T>G (p.Phe1453Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183127] |
Chr16:15724168 [GRCh38]
Chr16:15818025 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5574G>A (p.Val1858=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068153]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175874] |
Chr16:15715203 [GRCh38]
Chr16:15809060 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.2272C>A (p.Pro758Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629166]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183275] |
Chr16:15747709 [GRCh38]
Chr16:15841566 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3959C>G (p.Thr1320Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183342]|not provided [RCV003129726] |
Chr16:15724892 [GRCh38]
Chr16:15818749 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3262A>G (p.Lys1088Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001875796]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176018]|not provided [RCV002223992] |
Chr16:15737480 [GRCh38]
Chr16:15831337 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4407T>A (p.Asp1469Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629180]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190767] |
Chr16:15721593 [GRCh38]
Chr16:15815450 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5553G>A (p.Leu1851=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069130]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190804] |
Chr16:15715224 [GRCh38]
Chr16:15809081 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4935G>A (p.Lys1645=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629181]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190838] |
Chr16:15720169 [GRCh38]
Chr16:15814026 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002497669]|Aortic aneurysm, familial thoracic 4 [RCV002559185]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191151] |
Chr16:15715193 [GRCh38]
Chr16:15809050 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001240359]|Aortic aneurysm, familial thoracic 4 [RCV002484046]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191153] |
Chr16:15714981 [GRCh38]
Chr16:15808838 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+7128T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191202] |
Chr16:15703988 [GRCh38]
Chr16:15797845 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4511G>A (p.Arg1504Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558848]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177360] |
Chr16:15721489 [GRCh38]
Chr16:15815346 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15703981)_(16208869_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001032716] |
Chr16:15797838..16302726 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NC_000016.10:g.(?_15395898)_(15884205_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001032826] |
Chr16:15489755..15978062 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2254A>G (p.Lys752Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514484]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186548] |
Chr16:15747727 [GRCh38]
Chr16:15841584 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1030C>A (p.Leu344Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179257] |
Chr16:15771572 [GRCh38]
Chr16:15865429 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3934T>C (p.Ser1312Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559109]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186575] |
Chr16:15724917 [GRCh38]
Chr16:15818774 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002484019]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186589]|not specified [RCV003331070] |
Chr16:15747929 [GRCh38]
Chr16:15841786 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001371300]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179353]|not specified [RCV001527025] |
Chr16:15724326 [GRCh38]
Chr16:15818183 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4176G>A (p.Glu1392=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559764]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179360] |
Chr16:15724350 [GRCh38]
Chr16:15818207 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4000G>A (p.Val1334Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179413]|not specified [RCV001823758] |
Chr16:15724763 [GRCh38]
Chr16:15818620 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+6500G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001120915] |
Chr16:15703360 [GRCh38]
Chr16:15797217 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5118G>T (p.Ala1706=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001411262]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183614] |
Chr16:15719273 [GRCh38]
Chr16:15813130 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5580C>T (p.Asp1860=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001431338]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176543]|not specified [RCV003387970] |
Chr16:15715197 [GRCh38]
Chr16:15809054 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3813G>A (p.Gly1271=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178423] |
Chr16:15726893 [GRCh38]
Chr16:15820750 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3808G>C (p.Asp1270His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001294772]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185828] |
Chr16:15726898 [GRCh38]
Chr16:15820755 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5572G>T (p.Val1858Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191209] |
Chr16:15715205 [GRCh38]
Chr16:15809062 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.968G>C (p.Trp323Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191230] |
Chr16:15724211 [GRCh38]
Chr16:15818068 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3197A>G (p.Asp1066Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191272] |
Chr16:15737545 [GRCh38]
Chr16:15831402 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5743G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069151]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191401] |
Chr16:15718448 [GRCh38]
Chr16:15812305 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2860-10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560977]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191436] |
Chr16:15740198 [GRCh38]
Chr16:15834055 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3652-5G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560980]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191482] |
Chr16:15727059 [GRCh38]
Chr16:15820916 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.346-15del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181509] |
Chr16:15823426 [GRCh38]
Chr16:15917283 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2669A>C (p.Asn890Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179466] |
Chr16:15741653 [GRCh38]
Chr16:15835510 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.440G>A (p.Arg147Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186753] |
Chr16:15823317 [GRCh38]
Chr16:15917174 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5404C>T (p.His1802Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001875939]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179503] |
Chr16:15717240 [GRCh38]
Chr16:15811097 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4536A>C (p.Glu1512Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186789] |
Chr16:15721464 [GRCh38]
Chr16:15815321 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4476T>C (p.Leu1492=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187259] |
Chr16:15721524 [GRCh38]
Chr16:15815381 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.633+1900_633+1902del |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180064] |
Chr16:15784728..15784730 [GRCh38]
Chr16:15878585..15878587 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3255G>C (p.Leu1085=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003117813]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180065] |
Chr16:15737487 [GRCh38]
Chr16:15831344 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5317C>T (p.Leu1773=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068266]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180088]|not provided [RCV002264212] |
Chr16:15717327 [GRCh38]
Chr16:15811184 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1402-5C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559194]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191603] |
Chr16:15758005 [GRCh38]
Chr16:15851862 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3208C>T (p.Gln1070Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191695] |
Chr16:15737534 [GRCh38]
Chr16:15831391 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3593G>A (p.Arg1198Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002480638]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191697] |
Chr16:15732622 [GRCh38]
Chr16:15826479 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5346G>A (p.Lys1782=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001446550]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191707] |
Chr16:15717298 [GRCh38]
Chr16:15811155 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1743T>A (p.Ala581=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001191711] |
Chr16:15756347 [GRCh38]
Chr16:15850204 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2592C>T (p.Thr864=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069168]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191749] |
Chr16:15741820 [GRCh38]
Chr16:15835677 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.3669C>A (p.Asp1223Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001121523]|Aortic aneurysm, familial thoracic 4 [RCV002491376]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451328] |
Chr16:15727037 [GRCh38]
Chr16:15820894 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5128A>G (p.Lys1710Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001343107]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181792]|not provided [RCV003129725] |
Chr16:15719263 [GRCh38]
Chr16:15813120 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.984A>G (p.Thr328=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181977]|not specified [RCV001293588] |
Chr16:15724227 [GRCh38]
Chr16:15818084 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514473]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179563] |
Chr16:15708836 [GRCh38]
Chr16:15802693 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002480604]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179567] |
Chr16:15708816 [GRCh38]
Chr16:15802673 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5468T>C (p.Ile1823Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558914]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179601] |
Chr16:15717176 [GRCh38]
Chr16:15811033 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3712G>C (p.Gly1238Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514485]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186947] |
Chr16:15726994 [GRCh38]
Chr16:15820851 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.882G>A (p.Lys294=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068449]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186948] |
Chr16:15776085 [GRCh38]
Chr16:15869942 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1077C>T (p.Ile359=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001433293]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186957]|not provided [RCV001702089] |
Chr16:15763848 [GRCh38]
Chr16:15857705 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.757A>G (p.Thr253Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001876077]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182863] |
Chr16:15778813 [GRCh38]
Chr16:15872670 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1686G>A (p.Lys562=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069186]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192149] |
Chr16:15756404 [GRCh38]
Chr16:15850261 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.165G>C (p.Gly55=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001192178] |
Chr16:15838088 [GRCh38]
Chr16:15931945 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.852T>G (p.Phe284Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176738] |
Chr16:15776115 [GRCh38]
Chr16:15869972 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3823C>T (p.Arg1275Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001300470]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176821] |
Chr16:15726883 [GRCh38]
Chr16:15820740 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1470C>A (p.Thr490=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067946]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184188] |
Chr16:15757932 [GRCh38]
Chr16:15851789 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2115G>A (p.Leu705=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184378] |
Chr16:15748112 [GRCh38]
Chr16:15841969 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3864G>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177166] |
Chr16:15720327 [GRCh38]
Chr16:15814184 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2989C>G (p.Leu997Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001171284] |
Chr16:15740059 [GRCh38]
Chr16:15833916 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4523T>C (p.Met1508Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182120] |
Chr16:15721477 [GRCh38]
Chr16:15815334 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.171G>A (p.Glu57=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001186991] |
Chr16:15838082 [GRCh38]
Chr16:15931939 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2814C>G (p.Gly938=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068451]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186995] |
Chr16:15741508 [GRCh38]
Chr16:15835365 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.598T>C (p.Ser200Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629159]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179720] |
Chr16:15786665 [GRCh38]
Chr16:15880522 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5394G>A (p.Arg1798=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179726] |
Chr16:15717250 [GRCh38]
Chr16:15811107 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4729G>A (p.Glu1577Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001359634]|Aortic aneurysm, familial thoracic 4 [RCV002491555]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187022] |
Chr16:15720901 [GRCh38]
Chr16:15814758 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2339A>C (p.Glu780Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187086] |
Chr16:15747642 [GRCh38]
Chr16:15841499 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.503-1G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179875] |
Chr16:15798688 [GRCh38]
Chr16:15892545 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.847A>C (p.Ile283Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003769866]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175751] |
Chr16:15776120 [GRCh38]
Chr16:15869977 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4800G>T (p.Glu1600Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001175774] |
Chr16:15720304 [GRCh38]
Chr16:15814161 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5615C>T (p.Ala1872Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183143] |
Chr16:15715080 [GRCh38]
Chr16:15808937 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3928G>T (p.Val1310Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176152] |
Chr16:15724923 [GRCh38]
Chr16:15818780 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2699C>T (p.Thr900Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176204] |
Chr16:15741623 [GRCh38]
Chr16:15835480 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4991C>T (p.Ala1664Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176225] |
Chr16:15719676 [GRCh38]
Chr16:15813533 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001339254]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184507]|not specified [RCV002240784] |
Chr16:15719302 [GRCh38]
Chr16:15813159 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.2144T>G (p.Phe715Cys) |
single nucleotide variant |
not provided [RCV001092823] |
Chr16:15748083 [GRCh38]
Chr16:15841940 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2179C>T (p.Arg727Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182361]|not provided [RCV002224002] |
Chr16:15748048 [GRCh38]
Chr16:15841905 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2521-15A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179924] |
Chr16:15741906 [GRCh38]
Chr16:15835763 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2960T>C (p.Ile987Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001875959]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179926] |
Chr16:15740088 [GRCh38]
Chr16:15833945 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.59T>G (p.Phe20Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179929] |
Chr16:15838194 [GRCh38]
Chr16:15932051 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3688G>C (p.Glu1230Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179932] |
Chr16:15727018 [GRCh38]
Chr16:15820875 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4042C>T (p.Leu1348=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187203] |
Chr16:15724721 [GRCh38]
Chr16:15818578 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1089G>A (p.Lys363=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187204] |
Chr16:15763836 [GRCh38]
Chr16:15857693 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2652+6T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179965] |
Chr16:15741754 [GRCh38]
Chr16:15835611 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-2548C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187211] |
Chr16:15721643 [GRCh38]
Chr16:15815500 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5565G>A (p.Leu1855=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001179984] |
Chr16:15715212 [GRCh38]
Chr16:15809069 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4000G>T (p.Val1334Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629160]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180193] |
Chr16:15724763 [GRCh38]
Chr16:15818620 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3276G>A (p.Leu1092=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001479943]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182754] |
Chr16:15737466 [GRCh38]
Chr16:15831323 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-7057G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560833]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182840]|Familial thoracic aortic aneurysm and aortic dissection [RCV003227923]|not specified [RCV001732065] |
Chr16:15717134 [GRCh38]
Chr16:15810991 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance|not provided |
| NM_002474.3(MYH11):c.4924G>A (p.Glu1642Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183859] |
Chr16:15720180 [GRCh38]
Chr16:15814037 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4753G>A (p.Glu1585Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183866] |
Chr16:15720877 [GRCh38]
Chr16:15814734 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1956A>G (p.Thr652=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001499324]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183780]|not provided [RCV001092824] |
Chr16:15750240 [GRCh38]
Chr16:15844097 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.965G>T (p.Arg322Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001187480] |
Chr16:15724208 [GRCh38]
Chr16:15818065 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.975C>T (p.Ser325=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559978]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187497] |
Chr16:15724218 [GRCh38]
Chr16:15818075 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.292G>A (p.Glu98Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001229443]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187606]|not provided [RCV001560101] |
Chr16:15837961 [GRCh38]
Chr16:15931818 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2385G>A (p.Ala795=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001456563]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180346]|not provided [RCV003232218] |
Chr16:15747596 [GRCh38]
Chr16:15841453 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.754G>A (p.Val252Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001862958]|Aortic aneurysm, familial thoracic 4 [RCV002497654]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187613]|not provided [RCV001751336] |
Chr16:15778816 [GRCh38]
Chr16:15872673 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1851C>T (p.Asp617=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514475]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180353] |
Chr16:15753407 [GRCh38]
Chr16:15847264 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3506+189del |
deletion |
not provided [RCV001648970] |
Chr16:15735177 [GRCh38]
Chr16:15829034 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.947+7130C>G |
single nucleotide variant |
not provided [RCV001650001] |
Chr16:15703990 [GRCh38]
Chr16:15797847 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5289A>G (p.Thr1763=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514477]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181442] |
Chr16:15718321 [GRCh38]
Chr16:15812178 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3122-40T>C |
single nucleotide variant |
not provided [RCV001589540] |
Chr16:15737660 [GRCh38]
Chr16:15831517 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3015G>A (p.Glu1005=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181936] |
Chr16:15738671 [GRCh38]
Chr16:15832528 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2874G>A (p.Gln958=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559792]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181948] |
Chr16:15740174 [GRCh38]
Chr16:15834031 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.-18+157C>T |
single nucleotide variant |
not provided [RCV001665880] |
Chr16:15856784 [GRCh38]
Chr16:15950641 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.727-48C>A |
single nucleotide variant |
not provided [RCV001611186] |
Chr16:15778891 [GRCh38]
Chr16:15872748 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3122-243C>G |
single nucleotide variant |
not provided [RCV001713363] |
Chr16:15737863 [GRCh38]
Chr16:15831720 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1669C>T (p.Gln557Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001049655] |
Chr16:15756421 [GRCh38]
Chr16:15850278 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1207G>T (p.Val403Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181763] |
Chr16:15760581 [GRCh38]
Chr16:15854438 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1147C>T (p.His383Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182110] |
Chr16:15760641 [GRCh38]
Chr16:15854498 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-4650G>A |
single nucleotide variant |
not provided [RCV001691318] |
Chr16:15719541 [GRCh38]
Chr16:15813398 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3651+11T>G |
single nucleotide variant |
not provided [RCV001713360] |
Chr16:15732553 [GRCh38]
Chr16:15826410 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2412-323C>T |
single nucleotide variant |
not provided [RCV001682558] |
Chr16:15745560 [GRCh38]
Chr16:15839417 [GRCh37]
Chr16:16p13.11 |
benign |
| GRCh37/hg19 16p13.11(chr16:15124782-16291779)x1 |
copy number loss |
not provided [RCV001537888] |
Chr16:15124782..16291779 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2058+37G>A |
single nucleotide variant |
not provided [RCV001649106] |
Chr16:15750101 [GRCh38]
Chr16:15843958 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-3446_948-3445insAAAAA |
insertion |
not provided [RCV001587811] |
Chr16:15720742..15720743 [GRCh38]
Chr16:15814599..15814600 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2180+22A>T |
single nucleotide variant |
not provided [RCV001586820] |
Chr16:15748025 [GRCh38]
Chr16:15841882 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3625T>C |
single nucleotide variant |
not provided [RCV001566132] |
Chr16:15720566 [GRCh38]
Chr16:15814423 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1129+40T>G |
single nucleotide variant |
not provided [RCV001589665] |
Chr16:15763756 [GRCh38]
Chr16:15857613 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629189]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324130]|not provided [RCV001539412]|not specified [RCV003331178] |
Chr16:15724691 [GRCh38]
Chr16:15818548 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.633+2020C>T |
single nucleotide variant |
not provided [RCV001690613] |
Chr16:15784610 [GRCh38]
Chr16:15878467 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1576-301_1576-299dup |
duplication |
not provided [RCV001574235] |
Chr16:15756793..15756794 [GRCh38]
Chr16:15850650..15850651 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3652-147_3652-145del |
microsatellite |
not provided [RCV001612833] |
Chr16:15727199..15727201 [GRCh38]
Chr16:15821056..15821058 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.633+2028G>C |
single nucleotide variant |
not provided [RCV001645414] |
Chr16:15784602 [GRCh38]
Chr16:15878459 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001068053]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187745] |
Chr16:15720970 [GRCh38]
Chr16:15814827 [GRCh37]
Chr16:16p13.11 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002474.3(MYH11):c.1749+100A>C |
single nucleotide variant |
not provided [RCV001616552] |
Chr16:15756241 [GRCh38]
Chr16:15850098 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.5392C>T (p.Arg1798Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001048937]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176831]|Small cervical vertebral bodies [RCV002509598]|not provided [RCV003233940] |
Chr16:15717252 [GRCh38]
Chr16:15811109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.685G>A (p.Gly229Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002497633]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180927] |
Chr16:15782426 [GRCh38]
Chr16:15876283 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1567G>T |
single nucleotide variant |
Lissencephaly 4 [RCV001116532] |
Chr16:15725818 [GRCh38]
Chr16:15819675 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1493A>T (p.Glu498Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001198628] |
Chr16:15757909 [GRCh38]
Chr16:15851766 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2443G>A (p.Ala815Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001056237]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528264] |
Chr16:15745206 [GRCh38]
Chr16:15839063 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2653-19C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001001155] |
Chr16:15741688 [GRCh38]
Chr16:15835545 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4873G>C (p.Asp1625His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117662] |
Chr16:15720231 [GRCh38]
Chr16:15814088 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*901C>A |
single nucleotide variant |
Lissencephaly 4 [RCV001117879] |
Chr16:15725152 [GRCh38]
Chr16:15819009 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1786G>T |
single nucleotide variant |
Lissencephaly 4 [RCV001117987] |
Chr16:15726037 [GRCh38]
Chr16:15819894 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.808C>T (p.Arg270Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001050643] |
Chr16:15776159 [GRCh38]
Chr16:15870016 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1199G>A (p.Arg400His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181048] |
Chr16:15760589 [GRCh38]
Chr16:15854446 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.62T>C (p.Ile21Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001057777]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182335]|not specified [RCV003987772] |
Chr16:15838191 [GRCh38]
Chr16:15932048 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3258C>G (p.Ala1086=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558992]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181160] |
Chr16:15737484 [GRCh38]
Chr16:15831341 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5371G>C (p.Glu1791Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629162]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181361]|not provided [RCV002223277] |
Chr16:15717273 [GRCh38]
Chr16:15811130 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5491G>C (p.Glu1831Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181404]|Inborn genetic diseases [RCV003163419] |
Chr16:15717153 [GRCh38]
Chr16:15811010 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5692G>A (p.Ala1898Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001337726]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181497] |
Chr16:15715003 [GRCh38]
Chr16:15808860 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1064T>A |
single nucleotide variant |
Lissencephaly 4 [RCV001119434] |
Chr16:15725315 [GRCh38]
Chr16:15819172 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5114A>C (p.Gln1705Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001220405]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526198] |
Chr16:15719277 [GRCh38]
Chr16:15813134 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5756G>A (p.Arg1919His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001875997]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180707] |
Chr16:15714939 [GRCh38]
Chr16:15808796 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4479A>C (p.Glu1493Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002560806]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180761] |
Chr16:15721521 [GRCh38]
Chr16:15815378 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*1060A>G |
single nucleotide variant |
Lissencephaly 4 [RCV001119433] |
Chr16:15725311 [GRCh38]
Chr16:15819168 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.318G>A (p.Arg106=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182058] |
Chr16:15837935 [GRCh38]
Chr16:15931792 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5430C>T (p.Ser1810=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001408167]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182294] |
Chr16:15717214 [GRCh38]
Chr16:15811071 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1613A>G (p.Glu538Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182193] |
Chr16:15756477 [GRCh38]
Chr16:15850334 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.(?_15586717)_(15838252_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001032927] |
Chr16:15680574..15932109 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3807C>T (p.Ser1269=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001469725]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182399] |
Chr16:15726899 [GRCh38]
Chr16:15820756 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9288C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001212242]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176586] |
Chr16:15714903 [GRCh38]
Chr16:15808760 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15154115-16276115) |
copy number loss |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV001249391] |
Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11 |
not provided |
| NM_002474.3(MYH11):c.3304G>A (p.Glu1102Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180633] |
Chr16:15735568 [GRCh38]
Chr16:15829425 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3293+6G>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176593] |
Chr16:15737443 [GRCh38]
Chr16:15831300 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*1366C>T |
single nucleotide variant |
Lissencephaly 4 [RCV001121424] |
Chr16:15725617 [GRCh38]
Chr16:15819474 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2863C>G (p.Leu955Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001037764]|Aortic aneurysm, familial thoracic 4 [RCV002479244]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805982] |
Chr16:15740185 [GRCh38]
Chr16:15834042 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.27C>T (p.Asp9=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001485057]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170347] |
Chr16:15838226 [GRCh38]
Chr16:15932083 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3020G>A (p.Arg1007Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001040686]|Aortic aneurysm, familial thoracic 4 [RCV002497368] |
Chr16:15738666 [GRCh38]
Chr16:15832523 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3781G>C (p.Val1261Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001232949] |
Chr16:15726925 [GRCh38]
Chr16:15820782 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4879A>G (p.Lys1627Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001216907] |
Chr16:15720225 [GRCh38]
Chr16:15814082 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1300C>T (p.Arg434Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001048923]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528262]|not provided [RCV001759775] |
Chr16:15759677 [GRCh38]
Chr16:15853534 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2609A>C (p.Lys870Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181461] |
Chr16:15741803 [GRCh38]
Chr16:15835660 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4128G>A (p.Ser1376=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001181584] |
Chr16:15724398 [GRCh38]
Chr16:15818255 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3865G>C (p.Val1289Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629164]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181712] |
Chr16:15724986 [GRCh38]
Chr16:15818843 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.12-13.11(chr16:14770672-16458408)x1 |
copy number loss |
not provided [RCV001006769] |
Chr16:14770672..16458408 [GRCh37]
Chr16:16p13.12-13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1864+19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002558777]|not specified [RCV001174811] |
Chr16:15753375 [GRCh38]
Chr16:15847232 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1529A>C (p.Asp510Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182422] |
Chr16:15757873 [GRCh38]
Chr16:15851730 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 |
copy number loss |
16p13.11 microdeletion syndrome [RCV001824940]|not provided [RCV001249387] |
Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3 |
no classifications from unflagged records|not provided |
| NM_017668.3(NDE1):c.*1305C>A |
single nucleotide variant |
Lissencephaly 4 [RCV001121423] |
Chr16:15725556 [GRCh38]
Chr16:15819413 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2288T>C (p.Ile763Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001182988]|not provided [RCV001776130] |
Chr16:15747693 [GRCh38]
Chr16:15841550 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3380T>C (p.Leu1127Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001171282] |
Chr16:15735492 [GRCh38]
Chr16:15829349 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3131A>C (p.Lys1044Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001171283] |
Chr16:15737611 [GRCh38]
Chr16:15831468 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1214G>A (p.Arg405Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001054929] |
Chr16:15760574 [GRCh38]
Chr16:15854431 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-9105C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001474519]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183515] |
Chr16:15715086 [GRCh38]
Chr16:15808943 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.2216G>C (p.Gly739Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629168]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183605] |
Chr16:15747908 [GRCh38]
Chr16:15841765 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4011G>C (p.Lys1337Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002555457]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176397]|not provided [RCV001576726] |
Chr16:15724752 [GRCh38]
Chr16:15818609 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5460G>A (p.Glu1820=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001183774] |
Chr16:15717184 [GRCh38]
Chr16:15811041 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2362G>A (p.Asp788Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514478]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183928] |
Chr16:15747619 [GRCh38]
Chr16:15841476 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4685A>G (p.Lys1562Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514479]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183931] |
Chr16:15720945 [GRCh38]
Chr16:15814802 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1009G>A (p.Gly337Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001176714] |
Chr16:15771593 [GRCh38]
Chr16:15865450 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2925G>A (p.Thr975=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002068372]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184056] |
Chr16:15740123 [GRCh38]
Chr16:15833980 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3301G>A (p.Asp1101Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001225958]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184289] |
Chr16:15735571 [GRCh38]
Chr16:15829428 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5670G>A (p.Glu1890=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001504833]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177362] |
Chr16:15715025 [GRCh38]
Chr16:15808882 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4486T>G (p.Leu1496Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001184679] |
Chr16:15721514 [GRCh38]
Chr16:15815371 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.*561T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514481]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184702] |
Chr16:15724812 [GRCh38]
Chr16:15818669 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5490C>T (p.Val1830=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001478532]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184899] |
Chr16:15717154 [GRCh38]
Chr16:15811011 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5484G>A (p.Glu1828=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002067952]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184951] |
Chr16:15717160 [GRCh38]
Chr16:15811017 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2469C>T (p.Cys823=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001394836]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185039] |
Chr16:15745180 [GRCh38]
Chr16:15839037 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1908G>C (p.Glu636Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177898] |
Chr16:15750288 [GRCh38]
Chr16:15844145 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.886A>G (p.Arg296Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177966]|not specified [RCV003323803] |
Chr16:15776081 [GRCh38]
Chr16:15869938 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2356A>G (p.Ile786Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001177973] |
Chr16:15747625 [GRCh38]
Chr16:15841482 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5205G>T (p.Glu1735Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178136] |
Chr16:15718405 [GRCh38]
Chr16:15812262 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4709A>C (p.Gln1570Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001178231] |
Chr16:15720921 [GRCh38]
Chr16:15814778 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3676A>G (p.Lys1226Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001041525] |
Chr16:15727030 [GRCh38]
Chr16:15820887 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5825C>T (p.Ser1942Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001185634] |
Chr16:15704085 [GRCh38]
Chr16:15797942 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5429C>A (p.Ser1810Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001000750] |
Chr16:15717215 [GRCh38]
Chr16:15811072 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3983C>A (p.Thr1328Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001171278] |
Chr16:15724780 [GRCh38]
Chr16:15818637 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+7070T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001117449] |
Chr16:15703930 [GRCh38]
Chr16:15797787 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4358T>C (p.Phe1453Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001062731]|Aortic aneurysm, familial thoracic 4 [RCV002482065] |
Chr16:15724168 [GRCh38]
Chr16:15818025 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3631C>T (p.Gln1211Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001196926] |
Chr16:15732584 [GRCh38]
Chr16:15826441 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.2652+3A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001056700] |
Chr16:15741757 [GRCh38]
Chr16:15835614 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2813G>T (p.Gly938Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001053270] |
Chr16:15741509 [GRCh38]
Chr16:15835366 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2981A>T (p.Asn994Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001039187]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805985]|not provided [RCV003232187] |
Chr16:15740067 [GRCh38]
Chr16:15833924 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2807A>T (p.Asp936Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001180782]|Inborn genetic diseases [RCV002558971]|not provided [RCV002223998] |
Chr16:15741515 [GRCh38]
Chr16:15835372 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5462_5482del (p.Ala1821_Glu1827del) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001063447] |
Chr16:15717162..15717182 [GRCh38]
Chr16:15811019..15811039 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3376del (p.Asp1126fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001039458] |
Chr16:15735496 [GRCh38]
Chr16:15829353 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.115C>A (p.Pro39Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002559777]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181172] |
Chr16:15838138 [GRCh38]
Chr16:15931995 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4761T>G (p.Asn1587Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001063777] |
Chr16:15720869 [GRCh38]
Chr16:15814726 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4773G>C (p.Arg1591Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001526121]|not provided [RCV001092818] |
Chr16:15720857 [GRCh38]
Chr16:15814714 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) |
copy number gain |
Microcephaly [RCV001252948] |
Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_002474.3(MYH11):c.4121C>T (p.Ser1374Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001253078] |
Chr16:15724405 [GRCh38]
Chr16:15818262 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15417030-16544419)x3 |
copy number gain |
not provided [RCV001259250] |
Chr16:15417030..16544419 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3 |
copy number gain |
not provided [RCV001259251] |
Chr16:15127985..16527476 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:14929038-16309046)x3 |
copy number gain |
not provided [RCV001259253] |
Chr16:14929038..16309046 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3 |
copy number gain |
not provided [RCV001259257] |
Chr16:15481920..18164698 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1 |
copy number loss |
not provided [RCV001259258] |
Chr16:15375911..18198455 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3 |
copy number gain |
not provided [RCV001259259] |
Chr16:15481920..16837613 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.2058+6G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001302723] |
Chr16:15750132 [GRCh38]
Chr16:15843989 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.531-19_531-17del |
microsatellite |
not specified [RCV001255510] |
Chr16:15786749..15786751 [GRCh38]
Chr16:15880606..15880608 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3429C>A (p.Asp1143Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001285362] |
Chr16:15735443 [GRCh38]
Chr16:15829300 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2520+15C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069356]|not provided [RCV001712888]|not specified [RCV001255472] |
Chr16:15745114 [GRCh38]
Chr16:15838971 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-3356G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002542384]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804457] |
Chr16:15720835 [GRCh38]
Chr16:15814692 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15737239-15820210) |
copy number loss |
Intellectual disability [RCV001261859] |
Chr16:15737239..15820210 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1241A>G (p.Lys414Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001262552] |
Chr16:15760547 [GRCh38]
Chr16:15854404 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14897372-16513267) |
copy number loss |
Seizure [RCV002280701] |
Chr16:14897372..16513267 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.898C>G (p.Leu300Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001263012] |
Chr16:15771704 [GRCh38]
Chr16:15865561 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3173G>A (p.Arg1058Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001888974]|MYH11-related condition [RCV003407892] |
Chr16:15737569 [GRCh38]
Chr16:15831426 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4613A>C (p.Glu1538Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001258193]|not provided [RCV001751526] |
Chr16:15721017 [GRCh38]
Chr16:15814874 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2152C>T (p.Arg718Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001258206]|Aortic aneurysm, familial thoracic 4 [RCV002491866]|Familial thoracic aortic aneurysm and aortic dissection [RCV002430063] |
Chr16:15748075 [GRCh38]
Chr16:15841932 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.404C>T (p.Ser135Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002471122]|not provided [RCV003222337]|not specified [RCV001553754] |
Chr16:15823353 [GRCh38]
Chr16:15917210 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15058820-16328840)x3 |
copy number gain |
not provided [RCV001259252] |
Chr16:15058820..16328840 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15509824-16328781)x3 |
copy number gain |
not provided [RCV001259254] |
Chr16:15509824..16328781 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3 |
copy number gain |
not provided [RCV001259255] |
Chr16:15193982..18770833 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3 |
copy number gain |
not provided [RCV001259256] |
Chr16:15316618..18164698 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| NM_002474.3(MYH11):c.530+23_530+25del |
deletion |
not provided [RCV001572331] |
Chr16:15798635..15798637 [GRCh38]
Chr16:15892492..15892494 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 |
copy number gain |
See cases [RCV001263169] |
Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
| NM_002474.3(MYH11):c.2308T>C (p.Phe770Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001258194] |
Chr16:15747673 [GRCh38]
Chr16:15841530 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1042A>C (p.Lys348Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001258207] |
Chr16:15763883 [GRCh38]
Chr16:15857740 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2961C>G (p.Ile987Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001300255] |
Chr16:15740087 [GRCh38]
Chr16:15833944 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1286A>G (p.Tyr429Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001328952] |
Chr16:15759691 [GRCh38]
Chr16:15853548 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15797838)_(15932119_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001308189] |
Chr16:15797838..15932119 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3746A>T (p.Glu1249Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001314302] |
Chr16:15726960 [GRCh38]
Chr16:15820817 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+11984G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001330169] |
Chr16:15708844 [GRCh38]
Chr16:15802701 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15758636)_(16292059_?)dup |
duplication |
not provided [RCV001351206] |
Chr16:15758636..16292059 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5257G>C (p.Glu1753Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001351362] |
Chr16:15718353 [GRCh38]
Chr16:15812210 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15492317-16292235) |
copy number gain |
Autism with high cognitive abilities [RCV001291950] |
Chr16:15492317..16292235 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3 |
copy number gain |
Intellectual disability [RCV001293648] |
Chr16:15126890..16293190 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3409G>A (p.Ala1137Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001317692] |
Chr16:15735463 [GRCh38]
Chr16:15829320 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5241G>A (p.Glu1747=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804262] |
Chr16:15718369 [GRCh38]
Chr16:15812226 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5229G>A (p.Glu1743=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804408] |
Chr16:15718381 [GRCh38]
Chr16:15812238 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1249-4dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV002595310]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528428] |
Chr16:15759731..15759732 [GRCh38]
Chr16:15853588..15853589 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15795992)_(15951887_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001319099] |
Chr16:15795992..15951887 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2398T>G (p.Tyr800Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001317128] |
Chr16:15747583 [GRCh38]
Chr16:15841440 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1472T>C (p.Met491Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001285004] |
Chr16:15757930 [GRCh38]
Chr16:15851787 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1 |
copy number loss |
not provided [RCV001281366] |
Chr16:14968855..16251122 [GRCh37]
Chr16:16p13.11 |
risk factor |
| NM_002474.3(MYH11):c.2852A>T (p.Gln951Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001352456] |
Chr16:15741470 [GRCh38]
Chr16:15835327 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2652+5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001363306] |
Chr16:15741755 [GRCh38]
Chr16:15835612 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3071A>G (p.Asn1024Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001369268] |
Chr16:15738615 [GRCh38]
Chr16:15832472 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.530+20C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002069389]|not provided [RCV001579384]|not specified [RCV001269142] |
Chr16:15798640 [GRCh38]
Chr16:15892497 [GRCh37]
Chr16:16p13.11 |
benign|likely benign |
| NM_002474.3(MYH11):c.4204G>A (p.Glu1402Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799489] |
Chr16:15724322 [GRCh38]
Chr16:15818179 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5637C>T (p.Val1879=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629202]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799490] |
Chr16:15715058 [GRCh38]
Chr16:15808915 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.633+1906C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001421236]|MYH11-related condition [RCV003920915] |
Chr16:15784724 [GRCh38]
Chr16:15878581 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1674C>A (p.Gly558=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001415024] |
Chr16:15756416 [GRCh38]
Chr16:15850273 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3858+7A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001415207] |
Chr16:15726841 [GRCh38]
Chr16:15820698 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4086G>A (p.Leu1362=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001395941]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322380] |
Chr16:15724677 [GRCh38]
Chr16:15818534 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14887031-16308753)x3 |
copy number gain |
not provided [RCV001537889] |
Chr16:14887031..16308753 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5532G>A (p.Leu1844=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001434010] |
Chr16:15715245 [GRCh38]
Chr16:15809102 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1463A>G (p.Asn488Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001301267] |
Chr16:15757939 [GRCh38]
Chr16:15851796 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4106T>G (p.Leu1369Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001309443]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322215] |
Chr16:15724657 [GRCh38]
Chr16:15818514 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15808760)_(15932115_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001364819] |
Chr16:15808760..15932115 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15802662)_(15880595_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001319100] |
Chr16:15802662..15880595 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001314929]|Aortic aneurysm, familial thoracic 4 [RCV002504482] |
Chr16:15715067 [GRCh38]
Chr16:15808924 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3226G>T (p.Ala1076Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001300597]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166687]|not provided [RCV001587327] |
Chr16:15737516 [GRCh38]
Chr16:15831373 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1089G>C (p.Lys363Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001361921] |
Chr16:15763836 [GRCh38]
Chr16:15857693 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.962A>G (p.Gln321Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001363554] |
Chr16:15771640 [GRCh38]
Chr16:15865497 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3249G>A (p.Met1083Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001370314] |
Chr16:15737493 [GRCh38]
Chr16:15831350 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.265G>T (p.Asp89Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001352499] |
Chr16:15837988 [GRCh38]
Chr16:15931845 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4613A>T (p.Glu1538Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001298716] |
Chr16:15721017 [GRCh38]
Chr16:15814874 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3724G>A (p.Val1242Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001345460]|Aortic aneurysm, familial thoracic 4 [RCV002486404] |
Chr16:15726982 [GRCh38]
Chr16:15820839 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.530C>T (p.Thr177Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001308752]|Aortic aneurysm, familial thoracic 4 [RCV002486206] |
Chr16:15798660 [GRCh38]
Chr16:15892517 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2277C>G (p.Asn759Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001339957]|Aortic aneurysm, familial thoracic 4 [RCV002499672]|not provided [RCV003159202] |
Chr16:15747704 [GRCh38]
Chr16:15841561 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3407A>T (p.Lys1136Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001371030] |
Chr16:15735465 [GRCh38]
Chr16:15829322 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.347C>T (p.Thr116Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001328953]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526272]|not provided [RCV001545121] |
Chr16:15823410 [GRCh38]
Chr16:15917267 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4237G>T (p.Ala1413Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001324935]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526061]|not provided [RCV001544990] |
Chr16:15724289 [GRCh38]
Chr16:15818146 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3652-3C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001315603] |
Chr16:15727057 [GRCh38]
Chr16:15820914 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2216G>T (p.Gly739Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001360489]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528291] |
Chr16:15747908 [GRCh38]
Chr16:15841765 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2952G>C (p.Glu984Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001360566] |
Chr16:15740096 [GRCh38]
Chr16:15833953 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4646A>T (p.Glu1549Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001366889]|not provided [RCV002224080] |
Chr16:15720984 [GRCh38]
Chr16:15814841 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.105C>T (p.Leu35=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001396356] |
Chr16:15838148 [GRCh38]
Chr16:15932005 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.268A>G (p.Met90Val) |
single nucleotide variant |
Isolated thoracic aortic aneurysm [RCV001374833] |
Chr16:15837985 [GRCh38]
Chr16:15931842 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-5750G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001340985]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528289]|not provided [RCV001560479] |
Chr16:15718441 [GRCh38]
Chr16:15812298 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4001T>C (p.Val1334Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001341007] |
Chr16:15724762 [GRCh38]
Chr16:15818619 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5820dup (p.Gln1941fs) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001310002] |
Chr16:15708828..15708829 [GRCh38]
Chr16:15802685..15802686 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| Single allele |
duplication |
not provided [RCV001449859] |
Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4140G>C (p.Leu1380=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001413545]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160654] |
Chr16:15724386 [GRCh38]
Chr16:15818243 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5520C>T (p.Ala1840=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001413286] |
Chr16:15715257 [GRCh38]
Chr16:15809114 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4094A>G (p.His1365Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001361110]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322319] |
Chr16:15724669 [GRCh38]
Chr16:15818526 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4627G>A (p.Glu1543Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001369601]|Aortic aneurysm, familial thoracic 4 [RCV002476685] |
Chr16:15721003 [GRCh38]
Chr16:15814860 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4039A>G (p.Ser1347Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001365639]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528293] |
Chr16:15724724 [GRCh38]
Chr16:15818581 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4440G>T (p.Glu1480Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001365652] |
Chr16:15721560 [GRCh38]
Chr16:15815417 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5890G>T (p.Asp1964Tyr) |
single nucleotide variant |
not provided [RCV001311428] |
Chr16:15704020 [GRCh38]
Chr16:15797877 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5785A>C (p.Arg1929=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002954120]|MYH11-related condition [RCV003898638] |
Chr16:15714910 [GRCh38]
Chr16:15808767 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.633+1937G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524204] |
Chr16:15784693 [GRCh38]
Chr16:15878550 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.928C>T (p.Leu310Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524215] |
Chr16:15771674 [GRCh38]
Chr16:15865531 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5619G>A (p.Glu1873=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001495026] |
Chr16:15715076 [GRCh38]
Chr16:15808933 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2653-15A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524699] |
Chr16:15741684 [GRCh38]
Chr16:15835541 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.396C>T (p.Pro132=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001501782] |
Chr16:15823361 [GRCh38]
Chr16:15917218 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3234C>T (p.Ile1078=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001483937] |
Chr16:15737508 [GRCh38]
Chr16:15831365 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.630C>T (p.Ile210=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001466812] |
Chr16:15786633 [GRCh38]
Chr16:15880490 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3878C>G (p.Thr1293Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524967] |
Chr16:15724973 [GRCh38]
Chr16:15818830 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4032G>A (p.Glu1344=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001435963] |
Chr16:15724731 [GRCh38]
Chr16:15818588 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5416G>A (p.Gly1806Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525338] |
Chr16:15717228 [GRCh38]
Chr16:15811085 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1635G>A (p.Thr545=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525572] |
Chr16:15756455 [GRCh38]
Chr16:15850312 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3463C>G (p.Leu1155Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525589] |
Chr16:15735409 [GRCh38]
Chr16:15829266 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1342del (p.His448fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525599] |
Chr16:15759635 [GRCh38]
Chr16:15853492 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4819G>A (p.Asp1607Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525813] |
Chr16:15720285 [GRCh38]
Chr16:15814142 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5091C>T (p.Ala1697=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001425115]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528298] |
Chr16:15719300 [GRCh38]
Chr16:15813157 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4533C>G (p.Ala1511=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001457642] |
Chr16:15721467 [GRCh38]
Chr16:15815324 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2532G>A (p.Leu844=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525961] |
Chr16:15741880 [GRCh38]
Chr16:15835737 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.639G>A (p.Glu213=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001488348] |
Chr16:15782472 [GRCh38]
Chr16:15876329 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2180+8C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001441870] |
Chr16:15748039 [GRCh38]
Chr16:15841896 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4482G>A (p.Glu1494=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524036] |
Chr16:15721518 [GRCh38]
Chr16:15815375 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5443A>G (p.Thr1815Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568053]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524037]|not provided [RCV001821848] |
Chr16:15717201 [GRCh38]
Chr16:15811058 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5124C>T (p.Leu1708=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002070297]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524041] |
Chr16:15719267 [GRCh38]
Chr16:15813124 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2520+3G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524069] |
Chr16:15745126 [GRCh38]
Chr16:15838983 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-3870G>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524070] |
Chr16:15720321 [GRCh38]
Chr16:15814178 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2902A>G (p.Lys968Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524141] |
Chr16:15740146 [GRCh38]
Chr16:15834003 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3845T>G (p.Val1282Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568057]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524167] |
Chr16:15726861 [GRCh38]
Chr16:15820718 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.66C>T (p.Asn22=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524233] |
Chr16:15838187 [GRCh38]
Chr16:15932044 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.963C>T (p.Cys321=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001475633] |
Chr16:15724206 [GRCh38]
Chr16:15818063 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2058+9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001483680] |
Chr16:15750129 [GRCh38]
Chr16:15843986 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2295G>A (p.Gln765=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001486518] |
Chr16:15747686 [GRCh38]
Chr16:15841543 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1665G>A (p.Thr555=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001425997]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528299] |
Chr16:15756425 [GRCh38]
Chr16:15850282 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4507G>A (p.Glu1503Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514505]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524347] |
Chr16:15721493 [GRCh38]
Chr16:15815350 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.167del (p.Asp56fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524391] |
Chr16:15838086 [GRCh38]
Chr16:15931943 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4968C>T (p.Asp1656=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524393] |
Chr16:15719699 [GRCh38]
Chr16:15813556 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2319C>T (p.Gly773=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001485396] |
Chr16:15747662 [GRCh38]
Chr16:15841519 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2181-14C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524590] |
Chr16:15747957 [GRCh38]
Chr16:15841814 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1221_1223delinsTGG (p.Val408Gly) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524649] |
Chr16:15760565..15760567 [GRCh38]
Chr16:15854422..15854424 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2412-10C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524678] |
Chr16:15745247 [GRCh38]
Chr16:15839104 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3792G>T (p.Leu1264=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001475679] |
Chr16:15726914 [GRCh38]
Chr16:15820771 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.531-9G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001492908] |
Chr16:15786741 [GRCh38]
Chr16:15880598 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2857C>T (p.Leu953=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001483911] |
Chr16:15741465 [GRCh38]
Chr16:15835322 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-10C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524692] |
Chr16:15745247 [GRCh38]
Chr16:15839104 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4891C>T (p.Leu1631Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524853] |
Chr16:15720213 [GRCh38]
Chr16:15814070 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5438_5443dup (p.Lys1813_Ser1814dup) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524881] |
Chr16:15717200..15717201 [GRCh38]
Chr16:15811057..15811058 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4657G>A (p.Asp1553Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001872065]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525018] |
Chr16:15720973 [GRCh38]
Chr16:15814830 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3918G>T (p.Leu1306=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525177] |
Chr16:15724933 [GRCh38]
Chr16:15818790 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1628A>G (p.Lys543Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525209] |
Chr16:15756462 [GRCh38]
Chr16:15850319 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.531-3C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525279] |
Chr16:15786735 [GRCh38]
Chr16:15880592 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5424C>G (p.Val1808=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001393263] |
Chr16:15717220 [GRCh38]
Chr16:15811077 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2847C>T (p.Ala949=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001466234]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439106] |
Chr16:15741475 [GRCh38]
Chr16:15835332 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2344C>T (p.Arg782Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568104]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525708] |
Chr16:15747637 [GRCh38]
Chr16:15841494 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.4534G>A (p.Glu1512Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003771618]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526147] |
Chr16:15721466 [GRCh38]
Chr16:15815323 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4734G>A (p.Arg1578=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001498559] |
Chr16:15720896 [GRCh38]
Chr16:15814753 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4531G>A (p.Ala1511Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001526255]|not provided [RCV003130535] |
Chr16:15721469 [GRCh38]
Chr16:15815326 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1173T>C (p.Asp391=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001474773] |
Chr16:15760615 [GRCh38]
Chr16:15854472 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4701C>T (p.Val1567=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001427183] |
Chr16:15720929 [GRCh38]
Chr16:15814786 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.330C>T (p.Phe110=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001493636] |
Chr16:15837923 [GRCh38]
Chr16:15931780 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4510C>A (p.Arg1504=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001467771] |
Chr16:15721490 [GRCh38]
Chr16:15815347 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3279G>A (p.Gln1093=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001443261]|Familial thoracic aortic aneurysm and aortic dissection [RCV002449197] |
Chr16:15737463 [GRCh38]
Chr16:15831320 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2251-9C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001425292] |
Chr16:15747739 [GRCh38]
Chr16:15841596 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5713C>A (p.Arg1905=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001444032]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350883] |
Chr16:15714982 [GRCh38]
Chr16:15808839 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1170A>C (p.Thr390=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001434448]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528300] |
Chr16:15760618 [GRCh38]
Chr16:15854475 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3291C>A (p.Ala1097=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001449078] |
Chr16:15737451 [GRCh38]
Chr16:15831308 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.555C>T (p.Thr185=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001423292]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298718]|not specified [RCV001797840] |
Chr16:15786708 [GRCh38]
Chr16:15880565 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3506+9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001415666] |
Chr16:15735357 [GRCh38]
Chr16:15829214 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4842G>A (p.Leu1614=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001444261]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528301] |
Chr16:15720262 [GRCh38]
Chr16:15814119 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2485C>T (p.Leu829=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001408499] |
Chr16:15745164 [GRCh38]
Chr16:15839021 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5064C>T (p.Asp1688=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001419895]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524098] |
Chr16:15719603 [GRCh38]
Chr16:15813460 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5711A>G (p.Gln1904Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001523853] |
Chr16:15714984 [GRCh38]
Chr16:15808841 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.346-10_346-9del |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524781] |
Chr16:15823420..15823421 [GRCh38]
Chr16:15917277..15917278 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3557A>G (p.Glu1186Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525057] |
Chr16:15732658 [GRCh38]
Chr16:15826515 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4220A>T (p.Gln1407Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525116] |
Chr16:15724306 [GRCh38]
Chr16:15818163 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3505A>C (p.Arg1169=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002970989]|MYH11-related condition [RCV003921190]|not provided [RCV001531230] |
Chr16:15735367 [GRCh38]
Chr16:15829224 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.3519_3520delinsTT (p.Glu1173_Gln1174delinsAspTer) |
indel |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV001449893] |
Chr16:15732695..15732696 [GRCh38]
Chr16:15826552..15826553 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2213A>C (p.Lys738Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525470] |
Chr16:15747911 [GRCh38]
Chr16:15841768 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1575+29C>T |
single nucleotide variant |
not provided [RCV001666477] |
Chr16:15757798 [GRCh38]
Chr16:15851655 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.-13C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525615] |
Chr16:15838265 [GRCh38]
Chr16:15932122 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2068C>G (p.Leu690Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525620]|MYH11-related condition [RCV003426171] |
Chr16:15748159 [GRCh38]
Chr16:15842016 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4602G>A (p.Lys1534=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002070326]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525819] |
Chr16:15721028 [GRCh38]
Chr16:15814885 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1311C>T (p.Leu437=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001481960]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528307] |
Chr16:15759666 [GRCh38]
Chr16:15853523 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2180+42G>A |
single nucleotide variant |
not provided [RCV001615010] |
Chr16:15748005 [GRCh38]
Chr16:15841862 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3144G>A (p.Lys1048=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568836]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526086] |
Chr16:15737598 [GRCh38]
Chr16:15831455 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001491052] |
Chr16:15759567 [GRCh38]
Chr16:15853424 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.530+36del |
deletion |
not provided [RCV001671373] |
Chr16:15798624 [GRCh38]
Chr16:15892481 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1033+116_1033+117dup |
duplication |
not provided [RCV001675574] |
Chr16:15771435..15771436 [GRCh38]
Chr16:15865292..15865293 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1074T>C (p.Asn358=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001873719]|not specified [RCV001527036] |
Chr16:15763851 [GRCh38]
Chr16:15857708 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2059-295T>C |
single nucleotide variant |
not provided [RCV001654431] |
Chr16:15748463 [GRCh38]
Chr16:15842320 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-7321_948-7320del |
microsatellite |
not provided [RCV001592461] |
Chr16:15716868..15716869 [GRCh38]
Chr16:15810725..15810726 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2997+303del |
deletion |
not provided [RCV001617381] |
Chr16:15739748 [GRCh38]
Chr16:15833605 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.530+51T>A |
single nucleotide variant |
not provided [RCV001715607] |
Chr16:15798609 [GRCh38]
Chr16:15892466 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.2472C>A (p.Ala824=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001497491] |
Chr16:15745177 [GRCh38]
Chr16:15839034 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+212T>A |
single nucleotide variant |
not provided [RCV001691813] |
Chr16:15757615 [GRCh38]
Chr16:15851472 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.1033+132_1033+133del |
deletion |
not provided [RCV001654091] |
Chr16:15771436..15771437 [GRCh38]
Chr16:15865293..15865294 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.232A>G (p.Lys78Glu) |
single nucleotide variant |
not provided [RCV001703082] |
Chr16:15838021 [GRCh38]
Chr16:15931878 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.235A>C (p.Met79Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524024] |
Chr16:15838018 [GRCh38]
Chr16:15931875 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2013C>G (p.Thr671=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524258] |
Chr16:15750183 [GRCh38]
Chr16:15844040 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+212_1575+213insA |
insertion |
not provided [RCV001670239] |
Chr16:15757614..15757615 [GRCh38]
Chr16:15851471..15851472 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.86A>C (p.Asp29Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524464] |
Chr16:15838167 [GRCh38]
Chr16:15932024 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4923G>A (p.Glu1641=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001484345] |
Chr16:15720181 [GRCh38]
Chr16:15814038 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3652-9C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525219] |
Chr16:15727063 [GRCh38]
Chr16:15820920 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3804C>T (p.Cys1268=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001526307] |
Chr16:15726902 [GRCh38]
Chr16:15820759 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1034-15C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001526343] |
Chr16:15763906 [GRCh38]
Chr16:15857763 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15820695)_(15820921_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001377967] |
Chr16:15820695..15820921 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5724T>C (p.Asp1908=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001460190] |
Chr16:15714971 [GRCh38]
Chr16:15808828 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.873C>G (p.Ala291=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001479849]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377823] |
Chr16:15776094 [GRCh38]
Chr16:15869951 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2516C>A (p.Thr839Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525694] |
Chr16:15745133 [GRCh38]
Chr16:15838990 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5287A>G (p.Thr1763Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525696] |
Chr16:15718323 [GRCh38]
Chr16:15812180 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4653G>A (p.Leu1551=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001406105]|not provided [RCV001776234] |
Chr16:15720977 [GRCh38]
Chr16:15814834 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4752C>T (p.Asp1584=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001406108] |
Chr16:15720878 [GRCh38]
Chr16:15814735 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5187C>G (p.Asp1729Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525721] |
Chr16:15718423 [GRCh38]
Chr16:15812280 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.-6G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525723] |
Chr16:15838258 [GRCh38]
Chr16:15932115 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.483C>A (p.Ala161=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525744] |
Chr16:15823274 [GRCh38]
Chr16:15917131 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3256G>C (p.Ala1086Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525880] |
Chr16:15737486 [GRCh38]
Chr16:15831343 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.741C>T (p.Arg247=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568116]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525918] |
Chr16:15778829 [GRCh38]
Chr16:15872686 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4990G>A (p.Ala1664Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525921] |
Chr16:15719677 [GRCh38]
Chr16:15813534 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3817C>G (p.Arg1273Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525924] |
Chr16:15726889 [GRCh38]
Chr16:15820746 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5481G>A (p.Glu1827=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568831]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525943] |
Chr16:15717163 [GRCh38]
Chr16:15811020 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5702G>A (p.Arg1901Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525973] |
Chr16:15714993 [GRCh38]
Chr16:15808850 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.993G>A (p.Glu331=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525992] |
Chr16:15771609 [GRCh38]
Chr16:15865466 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.993G>A (p.Ser331=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001526053] |
Chr16:15724236 [GRCh38]
Chr16:15818093 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4944C>T (p.Arg1648=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001440130] |
Chr16:15720160 [GRCh38]
Chr16:15814017 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-2779A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001483158] |
Chr16:15721412 [GRCh38]
Chr16:15815269 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*162C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001465925] |
Chr16:15724413 [GRCh38]
Chr16:15818270 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1323C>A (p.Asn441Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001526062] |
Chr16:15759654 [GRCh38]
Chr16:15853511 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2998-10C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568835]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526065] |
Chr16:15738698 [GRCh38]
Chr16:15832555 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1775T>G (p.Leu592Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001526101] |
Chr16:15753483 [GRCh38]
Chr16:15847340 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3121+10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001496748]|MYH11-related condition [RCV003948452] |
Chr16:15738555 [GRCh38]
Chr16:15832412 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.142G>T (p.Ala48Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001523856] |
Chr16:15838111 [GRCh38]
Chr16:15931968 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5097T>C (p.Ala1699=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001523864] |
Chr16:15719294 [GRCh38]
Chr16:15813151 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3147C>T (p.Ser1049=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001523913] |
Chr16:15737595 [GRCh38]
Chr16:15831452 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.480G>A (p.Thr160=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001427367]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341926] |
Chr16:15823277 [GRCh38]
Chr16:15917134 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3720G>A (p.Leu1240=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001404382] |
Chr16:15726986 [GRCh38]
Chr16:15820843 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2745C>T (p.Ala915=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001461457] |
Chr16:15741577 [GRCh38]
Chr16:15835434 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3786G>A (p.Gln1262=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001523937] |
Chr16:15726920 [GRCh38]
Chr16:15820777 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5196C>T (p.Arg1732=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629185]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524054] |
Chr16:15718414 [GRCh38]
Chr16:15812271 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.133T>G (p.Phe45Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524074] |
Chr16:15838120 [GRCh38]
Chr16:15931977 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4087G>A (p.Glu1363Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524111] |
Chr16:15724676 [GRCh38]
Chr16:15818533 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1084A>G (p.Lys362Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524130] |
Chr16:15763841 [GRCh38]
Chr16:15857698 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2439G>A (p.Leu813=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524159] |
Chr16:15745210 [GRCh38]
Chr16:15839067 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.444C>A (p.His148Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524177] |
Chr16:15823313 [GRCh38]
Chr16:15917170 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2952G>A (p.Glu984=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524241] |
Chr16:15740096 [GRCh38]
Chr16:15833953 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.727-4G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001398171] |
Chr16:15778847 [GRCh38]
Chr16:15872704 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.947+11948G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524315] |
Chr16:15708808 [GRCh38]
Chr16:15802665 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5343GAA[1] (p.Lys1782del) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV002290714]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524614] |
Chr16:15717296..15717298 [GRCh38]
Chr16:15811153..15811155 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002568787]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524624]|Inborn genetic diseases [RCV003161053]|not specified [RCV003331175] |
Chr16:15745223 [GRCh38]
Chr16:15839080 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3441G>A (p.Glu1147=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001435004]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524544] |
Chr16:15735431 [GRCh38]
Chr16:15829288 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5673G>A (p.Glu1891=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001482516] |
Chr16:15715022 [GRCh38]
Chr16:15808879 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5616A>G (p.Ala1872=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629186]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524846] |
Chr16:15715079 [GRCh38]
Chr16:15808936 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4269C>A (p.Asn1423Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003771593]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524919] |
Chr16:15724257 [GRCh38]
Chr16:15818114 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3405C>A (p.Asn1135Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524929] |
Chr16:15735467 [GRCh38]
Chr16:15829324 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2181-3A>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001524962] |
Chr16:15747946 [GRCh38]
Chr16:15841803 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2704C>T (p.Leu902=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001394341] |
Chr16:15741618 [GRCh38]
Chr16:15835475 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4951C>G (p.Gln1651Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525002] |
Chr16:15720153 [GRCh38]
Chr16:15814010 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1249-11delinsCCCCTGGTTC |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV001525095] |
Chr16:15759739 [GRCh38]
Chr16:15853596 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5854G>C (p.Asp1952His) |
single nucleotide variant |
not provided [RCV001755661] |
Chr16:15704056 [GRCh38]
Chr16:15797913 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5188G>T (p.Glu1730Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002250131] |
Chr16:15718422 [GRCh38]
Chr16:15812279 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2781G>A (p.Met927Ile) |
single nucleotide variant |
not provided [RCV003127009] |
Chr16:15741541 [GRCh38]
Chr16:15835398 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15936927-16328840)x3 |
copy number gain |
not provided [RCV001834322] |
Chr16:15936927..16328840 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1328C>T (p.Ala443Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001868765]|not provided [RCV001755688] |
Chr16:15759649 [GRCh38]
Chr16:15853506 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2809A>G (p.Arg937Gly) |
single nucleotide variant |
not provided [RCV001755348] |
Chr16:15741513 [GRCh38]
Chr16:15835370 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2914G>C (p.Glu972Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002488610]|Inborn genetic diseases [RCV003163894]|not provided [RCV001755420] |
Chr16:15740134 [GRCh38]
Chr16:15833991 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2476T>C (p.Tyr826His) |
single nucleotide variant |
not provided [RCV001776826]|not specified [RCV002266014] |
Chr16:15745173 [GRCh38]
Chr16:15839030 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2704C>G (p.Leu902Val) |
single nucleotide variant |
not provided [RCV001776847] |
Chr16:15741618 [GRCh38]
Chr16:15835475 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3000A>G (p.Glu1000=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002104324] |
Chr16:15738686 [GRCh38]
Chr16:15832543 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2180+1G>T |
single nucleotide variant |
not provided [RCV001755558] |
Chr16:15748046 [GRCh38]
Chr16:15841903 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2993C>A (p.Ser998Ter) |
single nucleotide variant |
not provided [RCV003238649] |
Chr16:15740055 [GRCh38]
Chr16:15833912 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1712A>T (p.Asp571Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799484] |
Chr16:15756378 [GRCh38]
Chr16:15850235 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.414C>A (p.Ile138=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799488] |
Chr16:15823343 [GRCh38]
Chr16:15917200 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5759A>T (p.Glu1920Val) |
single nucleotide variant |
not provided [RCV001767943] |
Chr16:15714936 [GRCh38]
Chr16:15808793 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.59TCA[1] (p.Ile21del) |
microsatellite |
not provided [RCV001768026] |
Chr16:15838189..15838191 [GRCh38]
Chr16:15932046..15932048 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5328G>C (p.Glu1776Asp) |
single nucleotide variant |
not provided [RCV001768028] |
Chr16:15717316 [GRCh38]
Chr16:15811173 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3195C>A (p.Ser1065Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528332]|not provided [RCV001753137] |
Chr16:15737547 [GRCh38]
Chr16:15831404 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2848C>G (p.Gln950Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629200]|not provided [RCV001768305] |
Chr16:15741474 [GRCh38]
Chr16:15835331 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15124581-16290348)x3 |
copy number gain |
not provided [RCV001795550] |
Chr16:15124581..16290348 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.1696C>G (p.Pro566Ala) |
single nucleotide variant |
not provided [RCV001767919] |
Chr16:15756394 [GRCh38]
Chr16:15850251 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4227G>C (p.Glu1409Asp) |
single nucleotide variant |
not provided [RCV001776523] |
Chr16:15724299 [GRCh38]
Chr16:15818156 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5103G>T (p.Arg1701Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528333]|not provided [RCV001768212] |
Chr16:15719288 [GRCh38]
Chr16:15813145 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4915G>C (p.Gly1639Arg) |
single nucleotide variant |
not provided [RCV001766292] |
Chr16:15720189 [GRCh38]
Chr16:15814046 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4699G>T (p.Val1567Phe) |
single nucleotide variant |
not provided [RCV001753303] |
Chr16:15720931 [GRCh38]
Chr16:15814788 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14892880-16544222) |
copy number gain |
16p13.11 microduplication syndrome [RCV002280702] |
Chr16:14892880..16544222 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.3002G>A (p.Arg1001Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528335]|not provided [RCV001777053] |
Chr16:15738684 [GRCh38]
Chr16:15832541 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5857G>A (p.Gly1953Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003221285] |
Chr16:15704053 [GRCh38]
Chr16:15797910 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.188T>C (p.Val63Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805470] |
Chr16:15838065 [GRCh38]
Chr16:15931922 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.502+5G>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805600] |
Chr16:15823250 [GRCh38]
Chr16:15917107 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725) |
copy number gain |
Cardiomyopathy [RCV002280695] |
Chr16:15316618..18191725 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:14899676-16516109) |
copy number loss |
Hydrocephalus [RCV002280699] |
Chr16:14899676..16516109 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14897625-16494783) |
copy number loss |
16p13.11 microdeletion syndrome [RCV002280700] |
Chr16:14897625..16494783 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2082G>A (p.Leu694=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002503289]|Aortic aneurysm, familial thoracic 4 [RCV003772201]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799485] |
Chr16:15748145 [GRCh38]
Chr16:15842002 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2620G>A (p.Glu874Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799486] |
Chr16:15741792 [GRCh38]
Chr16:15835649 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3040A>G (p.Asn1014Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799487] |
Chr16:15738646 [GRCh38]
Chr16:15832503 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5797G>A (p.Glu1933Lys) |
single nucleotide variant |
not provided [RCV001757388] |
Chr16:15704113 [GRCh38]
Chr16:15797970 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3287T>C (p.Leu1096Pro) |
single nucleotide variant |
not provided [RCV001757744] |
Chr16:15737455 [GRCh38]
Chr16:15831312 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4408G>A (p.Glu1470Lys) |
single nucleotide variant |
not provided [RCV001757373] |
Chr16:15721592 [GRCh38]
Chr16:15815449 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5329C>T (p.Arg1777Cys) |
single nucleotide variant |
not provided [RCV001757295] |
Chr16:15717315 [GRCh38]
Chr16:15811172 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4096A>T (p.Ile1366Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001868813]|Aortic aneurysm, familial thoracic 4 [RCV002506816]|not provided [RCV001776862] |
Chr16:15724667 [GRCh38]
Chr16:15818524 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5813C>G (p.Pro1938Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001868760]|not provided [RCV001755592] |
Chr16:15708836 [GRCh38]
Chr16:15802693 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.405G>C (p.Ser135=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804378] |
Chr16:15823352 [GRCh38]
Chr16:15917209 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4975A>G (p.Arg1659Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804621] |
Chr16:15719692 [GRCh38]
Chr16:15813549 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.101G>A (p.Arg34Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804661] |
Chr16:15838152 [GRCh38]
Chr16:15932009 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3903G>A (p.Gly1301=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805270] |
Chr16:15724948 [GRCh38]
Chr16:15818805 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.-12C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805332] |
Chr16:15838264 [GRCh38]
Chr16:15932121 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2653-13C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805373] |
Chr16:15741682 [GRCh38]
Chr16:15835539 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.726+2dup |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804395] |
Chr16:15782382..15782383 [GRCh38]
Chr16:15876239..15876240 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1129+4C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805420] |
Chr16:15763792 [GRCh38]
Chr16:15857649 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.350A>T (p.Tyr117Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805434] |
Chr16:15823407 [GRCh38]
Chr16:15917264 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5487G>A (p.Gln1829=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805463] |
Chr16:15717157 [GRCh38]
Chr16:15811014 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.267C>A (p.Asp89Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002541435]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805509] |
Chr16:15837986 [GRCh38]
Chr16:15931843 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2813G>C (p.Gly938Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805627] |
Chr16:15741509 [GRCh38]
Chr16:15835366 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1701G>C (p.Lys567Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805378] |
Chr16:15756389 [GRCh38]
Chr16:15850246 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2581C>T (p.Leu861=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003772242]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805449] |
Chr16:15741831 [GRCh38]
Chr16:15835688 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1807G>A (p.Val603Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001869556]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805647] |
Chr16:15753451 [GRCh38]
Chr16:15847308 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3121+19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002074168]|not provided [RCV001812540] |
Chr16:15738546 [GRCh38]
Chr16:15832403 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1525A>G (p.Ile509Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805246] |
Chr16:15757877 [GRCh38]
Chr16:15851734 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1302C>T (p.Arg434=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805295] |
Chr16:15759675 [GRCh38]
Chr16:15853532 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2462G>A (p.Arg821Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804493] |
Chr16:15745187 [GRCh38]
Chr16:15839044 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3558G>A (p.Glu1186=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804645] |
Chr16:15732657 [GRCh38]
Chr16:15826514 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1965G>T (p.Gln655His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805240] |
Chr16:15750231 [GRCh38]
Chr16:15844088 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4601A>C (p.Lys1534Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805278] |
Chr16:15721029 [GRCh38]
Chr16:15814886 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3759G>C (p.Lys1253Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804353] |
Chr16:15726947 [GRCh38]
Chr16:15820804 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2645A>G (p.His882Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804670] |
Chr16:15741767 [GRCh38]
Chr16:15835624 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3494A>T (p.Gln1165Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629203]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805732] |
Chr16:15735378 [GRCh38]
Chr16:15829235 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4169T>C (p.Leu1390Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805426] |
Chr16:15724357 [GRCh38]
Chr16:15818214 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2572G>A (p.Glu858Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805567] |
Chr16:15741840 [GRCh38]
Chr16:15835697 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4374C>G (p.Ala1458=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002542415]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805712] |
Chr16:15721626 [GRCh38]
Chr16:15815483 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1570C>T (p.Arg524Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805469] |
Chr16:15757832 [GRCh38]
Chr16:15851689 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3030C>G (p.Asp1010Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002541406]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804479] |
Chr16:15738656 [GRCh38]
Chr16:15832513 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3715G>A (p.Glu1239Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804296] |
Chr16:15726991 [GRCh38]
Chr16:15820848 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2380C>T (p.Gln794Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001814678] |
Chr16:15747601 [GRCh38]
Chr16:15841458 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.3001C>A (p.Arg1001=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002541425]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805288] |
Chr16:15738685 [GRCh38]
Chr16:15832542 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.285C>T (p.Cys95=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514525]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805344] |
Chr16:15837968 [GRCh38]
Chr16:15931825 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.-15G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804461] |
Chr16:15838267 [GRCh38]
Chr16:15932124 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1668G>A (p.Glu556=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805425] |
Chr16:15756422 [GRCh38]
Chr16:15850279 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3122-9T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001805464] |
Chr16:15737629 [GRCh38]
Chr16:15831486 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2158G>A (p.Val720Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002489858]|Aortic aneurysm, familial thoracic 4 [RCV002541441]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805663] |
Chr16:15748069 [GRCh38]
Chr16:15841926 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2702A>G (p.Glu901Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804504] |
Chr16:15741620 [GRCh38]
Chr16:15835477 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5407G>A (p.Glu1803Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804519] |
Chr16:15717237 [GRCh38]
Chr16:15811094 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4191C>A (p.Phe1397Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001804653] |
Chr16:15724335 [GRCh38]
Chr16:15818192 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002074179]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804276] |
Chr16:15745246 [GRCh38]
Chr16:15839103 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3433G>A (p.Gly1145Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002541436]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805558] |
Chr16:15735439 [GRCh38]
Chr16:15829296 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5818C>T (p.Pro1940Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001869553]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805626] |
Chr16:15708831 [GRCh38]
Chr16:15802688 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4116+1del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001895964] |
Chr16:15724646 [GRCh38]
Chr16:15818503 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001885371]|not provided [RCV001824517] |
Chr16:15715076 [GRCh38]
Chr16:15808933 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5296G>A (p.Ala1766Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001910032] |
Chr16:15717348 [GRCh38]
Chr16:15811205 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1828T>G (p.Ser610Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001950565] |
Chr16:15753430 [GRCh38]
Chr16:15847287 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5728G>A (p.Ala1910Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001970582] |
Chr16:15714967 [GRCh38]
Chr16:15808824 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4933A>C (p.Lys1645Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002009112]|Familial thoracic aortic aneurysm and aortic dissection [RCV002335021]|not provided [RCV002261437] |
Chr16:15720171 [GRCh38]
Chr16:15814028 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5140G>A (p.Ala1714Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001895446]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528342] |
Chr16:15719251 [GRCh38]
Chr16:15813108 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1849G>A (p.Asp617Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001896638] |
Chr16:15753409 [GRCh38]
Chr16:15847266 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.644del (p.Ser215fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002044836] |
Chr16:15784708 [GRCh38]
Chr16:15878565 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2853G>C (p.Gln951His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002025134] |
Chr16:15741469 [GRCh38]
Chr16:15835326 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2311C>T (p.Arg771Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001895554] |
Chr16:15747670 [GRCh38]
Chr16:15841527 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5641C>A (p.Gln1881Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001895578] |
Chr16:15715054 [GRCh38]
Chr16:15808911 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1 |
copy number loss |
not provided [RCV001834196] |
Chr16:15375912..16390970 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.496C>T (p.Leu166Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001894213] |
Chr16:15823261 [GRCh38]
Chr16:15917118 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1923C>A (p.Ser641Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001966180] |
Chr16:15750273 [GRCh38]
Chr16:15844130 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1033+1G>A |
single nucleotide variant |
Megacystis, microcolon, hypoperistalsis syndrome [RCV001844380]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV003987893] |
Chr16:15771568 [GRCh38]
Chr16:15865425 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2055G>A (p.Lys685=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003299027]|not specified [RCV001844529] |
Chr16:15750141 [GRCh38]
Chr16:15843998 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5734G>A (p.Glu1912Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001891959] |
Chr16:15714961 [GRCh38]
Chr16:15808818 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1 |
copy number loss |
not provided [RCV001827596] |
Chr16:15418575..16494783 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3858+1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001966399]|not provided [RCV003738119] |
Chr16:15726847 [GRCh38]
Chr16:15820704 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001914128] |
Chr16:15715178 [GRCh38]
Chr16:15809035 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1470dup (p.Met491fs) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV001844530] |
Chr16:15757931..15757932 [GRCh38]
Chr16:15851788..15851789 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.1346G>T (p.Arg449Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001946303] |
Chr16:15759631 [GRCh38]
Chr16:15853488 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.47T>C (p.Val16Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001969716] |
Chr16:15838206 [GRCh38]
Chr16:15932063 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.452C>T (p.Pro151Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001891337]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528343] |
Chr16:15823305 [GRCh38]
Chr16:15917162 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4225G>A (p.Glu1409Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002040497]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331617] |
Chr16:15724301 [GRCh38]
Chr16:15818158 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.759G>A (p.Thr253=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002029479] |
Chr16:15778811 [GRCh38]
Chr16:15872668 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3858+9G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002012980] |
Chr16:15726839 [GRCh38]
Chr16:15820696 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2861A>T (p.Asp954Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001943299]|not provided [RCV003149003] |
Chr16:15740187 [GRCh38]
Chr16:15834044 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2673G>C (p.Leu891=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001999659] |
Chr16:15741649 [GRCh38]
Chr16:15835506 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3338T>C (p.Ile1113Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001900773] |
Chr16:15735534 [GRCh38]
Chr16:15829391 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1526T>C (p.Ile509Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001980529] |
Chr16:15757876 [GRCh38]
Chr16:15851733 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4821C>A (p.Asp1607Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002000940] |
Chr16:15720283 [GRCh38]
Chr16:15814140 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3506+1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002039117] |
Chr16:15735365 [GRCh38]
Chr16:15829222 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.2992T>C (p.Ser998Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001867802] |
Chr16:15740056 [GRCh38]
Chr16:15833913 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3552T>G (p.Asp1184Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001886398]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334796] |
Chr16:15732663 [GRCh38]
Chr16:15826520 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3751G>C (p.Glu1251Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001962156] |
Chr16:15726955 [GRCh38]
Chr16:15820812 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.94G>C (p.Ala32Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001886458] |
Chr16:15838159 [GRCh38]
Chr16:15932016 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3963+1G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001963636] |
Chr16:15724887 [GRCh38]
Chr16:15818744 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5278C>T (p.Arg1760Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001900650]|Aortic aneurysm, familial thoracic 4 [RCV002503450] |
Chr16:15718332 [GRCh38]
Chr16:15812189 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1720G>C (p.Glu574Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001901904] |
Chr16:15756370 [GRCh38]
Chr16:15850227 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15802668)_(15917288_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV002014438] |
Chr16:15802668..15917288 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5236GAG[2] (p.Glu1748del) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV001936527] |
Chr16:15718366..15718368 [GRCh38]
Chr16:15812223..15812225 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.397A>G (p.Ile133Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001957179]|Aortic aneurysm, familial thoracic 4 [RCV002503624]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352593] |
Chr16:15823360 [GRCh38]
Chr16:15917217 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1016G>C (p.Ser339Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002010927] |
Chr16:15771586 [GRCh38]
Chr16:15865443 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2594A>T (p.Lys865Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001978834] |
Chr16:15741818 [GRCh38]
Chr16:15835675 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1558G>A (p.Glu520Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001904013] |
Chr16:15757844 [GRCh38]
Chr16:15851701 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15802658)_(15802708_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001936864] |
Chr16:15802658..15802708 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3778_3780dup (p.Gln1260dup) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV002026648] |
Chr16:15726925..15726926 [GRCh38]
Chr16:15820782..15820783 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2191C>G (p.Leu731Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002028284] |
Chr16:15747933 [GRCh38]
Chr16:15841790 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5828C>T (p.Thr1943Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001916949] |
Chr16:15708821 [GRCh38]
Chr16:15802678 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3770T>C (p.Leu1257Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001938595] |
Chr16:15726936 [GRCh38]
Chr16:15820793 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15802668)_(15932109_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001875180] |
Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5546A>G (p.Lys1849Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002047376] |
Chr16:15715231 [GRCh38]
Chr16:15809088 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3183_3184insCA (p.Gly1062fs) |
insertion |
Aortic aneurysm, familial thoracic 4 [RCV002028790] |
Chr16:15737558..15737559 [GRCh38]
Chr16:15831415..15831416 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.947+12001C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001972278] |
Chr16:15708861 [GRCh38]
Chr16:15802718 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.1138A>G (p.Lys380Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001954052] |
Chr16:15760650 [GRCh38]
Chr16:15854507 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3844G>C (p.Val1282Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001884478] |
Chr16:15726862 [GRCh38]
Chr16:15820719 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5107C>T (p.Arg1703Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002543441]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334721]|not provided [RCV002034865] |
Chr16:15719284 [GRCh38]
Chr16:15813141 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1951C>T (p.Arg651Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002010572]|Aortic aneurysm, familial thoracic 4 [RCV002492311] |
Chr16:15750245 [GRCh38]
Chr16:15844102 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.98A>G (p.Lys33Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001897235]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386652]|not provided [RCV003229901] |
Chr16:15838155 [GRCh38]
Chr16:15932012 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.154G>A (p.Glu52Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002015247] |
Chr16:15838099 [GRCh38]
Chr16:15931956 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5000C>G (p.Ser1667Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001902808] |
Chr16:15719667 [GRCh38]
Chr16:15813524 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3579G>C (p.Gln1193His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002027419] |
Chr16:15732636 [GRCh38]
Chr16:15826493 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3277C>T (p.Gln1093Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001951108] |
Chr16:15737465 [GRCh38]
Chr16:15831322 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NC_000016.9:g.(?_15802668)_(15932109_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001953910] |
Chr16:15802668..15932109 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV001994617]|Familial thoracic aortic aneurysm and aortic dissection [RCV002407177]|not provided [RCV002224123] |
Chr16:15763843..15763856 [GRCh38]
Chr16:15857700..15857713 [GRCh37]
Chr16:16p13.11 |
pathogenic|likely pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.214G>A (p.Gly72Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001916068] |
Chr16:15838039 [GRCh38]
Chr16:15931896 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2058+7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001904329] |
Chr16:15750131 [GRCh38]
Chr16:15843988 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15917092)_(15932109_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV001916248] |
Chr16:15917092..15932109 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15758636)_(17564653_?)dup |
duplication |
Desbuquois dysplasia 1 [RCV001919069]|not provided [RCV003107892] |
Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance|no classifications from unflagged records |
| NM_002474.3(MYH11):c.259G>T (p.Val87Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001932865] |
Chr16:15837994 [GRCh38]
Chr16:15931851 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5777G>A (p.Ser1926Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV001989691] |
Chr16:15714918 [GRCh38]
Chr16:15808775 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.346-10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002129901] |
Chr16:15823421 [GRCh38]
Chr16:15917278 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5375G>C (p.Arg1792Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002487010]|not provided [RCV002224185] |
Chr16:15717269 [GRCh38]
Chr16:15811126 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2521-19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002090461] |
Chr16:15741910 [GRCh38]
Chr16:15835767 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4512G>T (p.Arg1504=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002166448] |
Chr16:15721488 [GRCh38]
Chr16:15815345 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2028G>A (p.Val676=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002209574] |
Chr16:15750168 [GRCh38]
Chr16:15844025 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1723T>C (p.Phe575Leu) |
single nucleotide variant |
not provided [RCV002224342] |
Chr16:15756367 [GRCh38]
Chr16:15850224 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2888A>G (p.Glu963Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002496154]|Aortic aneurysm, familial thoracic 4 [RCV003089167]|not provided [RCV002224263] |
Chr16:15740160 [GRCh38]
Chr16:15834017 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2250+13G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002147091] |
Chr16:15747861 [GRCh38]
Chr16:15841718 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.6G>T (p.Ala2=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002106314] |
Chr16:15838247 [GRCh38]
Chr16:15932104 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3413A>G (p.Glu1138Gly) |
single nucleotide variant |
not provided [RCV002224605] |
Chr16:15735459 [GRCh38]
Chr16:15829316 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4377G>A (p.Glu1459=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002209298] |
Chr16:15721623 [GRCh38]
Chr16:15815480 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1790A>C (p.Asp597Ala) |
single nucleotide variant |
not provided [RCV002223416] |
Chr16:15753468 [GRCh38]
Chr16:15847325 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3651+20C>T |
single nucleotide variant |
not provided [RCV002223362] |
Chr16:15732544 [GRCh38]
Chr16:15826401 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5368C>T (p.Leu1790Phe) |
single nucleotide variant |
not provided [RCV002224667] |
Chr16:15717276 [GRCh38]
Chr16:15811133 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4890G>A (p.Glu1630=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002192877]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337215] |
Chr16:15720214 [GRCh38]
Chr16:15814071 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3122del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002209285] |
Chr16:15721069 [GRCh38]
Chr16:15814926 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1132G>A (p.Ala378Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002443269]|not provided [RCV002223367] |
Chr16:15760656 [GRCh38]
Chr16:15854513 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4366-1G>A |
single nucleotide variant |
not provided [RCV002224726] |
Chr16:15721635 [GRCh38]
Chr16:15815492 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.4120T>C (p.Ser1374Pro) |
single nucleotide variant |
not provided [RCV002223501] |
Chr16:15724406 [GRCh38]
Chr16:15818263 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2048A>G (p.His683Arg) |
single nucleotide variant |
not provided [RCV002224568] |
Chr16:15750148 [GRCh38]
Chr16:15844005 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5875dup (p.Asp1959fs) |
duplication |
not provided [RCV002223547] |
Chr16:15704034..15704035 [GRCh38]
Chr16:15797891..15797892 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.381C>G (p.Pro127=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002167528] |
Chr16:15823376 [GRCh38]
Chr16:15917233 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2836A>T (p.Lys946Ter) |
single nucleotide variant |
not provided [RCV002223451] |
Chr16:15741486 [GRCh38]
Chr16:15835343 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.3568C>T (p.His1190Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002454593]|not provided [RCV002224289] |
Chr16:15732647 [GRCh38]
Chr16:15826504 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.346-18T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002210334] |
Chr16:15823429 [GRCh38]
Chr16:15917286 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.972G>A (p.Leu324=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002085562]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161445] |
Chr16:15724215 [GRCh38]
Chr16:15818072 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1816C>T (p.Leu606=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002097282] |
Chr16:15753442 [GRCh38]
Chr16:15847299 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-10C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002206181] |
Chr16:15745247 [GRCh38]
Chr16:15839104 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2304C>T (p.Ile768=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002127586] |
Chr16:15747677 [GRCh38]
Chr16:15841534 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4342A>G (p.Lys1448Glu) |
single nucleotide variant |
not provided [RCV002223523] |
Chr16:15724184 [GRCh38]
Chr16:15818041 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_017668.3(NDE1):c.948-4616G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002193416] |
Chr16:15719575 [GRCh38]
Chr16:15813432 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.258G>A (p.Lys86=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002149135] |
Chr16:15837995 [GRCh38]
Chr16:15931852 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4179G>C (p.Gly1393=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002197497] |
Chr16:15724347 [GRCh38]
Chr16:15818204 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5373G>A (p.Glu1791=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002088412] |
Chr16:15717271 [GRCh38]
Chr16:15811128 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3858+14G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002152653] |
Chr16:15726834 [GRCh38]
Chr16:15820691 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5421C>G (p.Ala1807=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002129939] |
Chr16:15717223 [GRCh38]
Chr16:15811080 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4840C>T (p.Leu1614=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002133101] |
Chr16:15720264 [GRCh38]
Chr16:15814121 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3522G>A (p.Gln1174=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002171705] |
Chr16:15732693 [GRCh38]
Chr16:15826550 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2184C>T (p.Tyr728=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002078123] |
Chr16:15747940 [GRCh38]
Chr16:15841797 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*630C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002094027]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485765] |
Chr16:15724881 [GRCh38]
Chr16:15818738 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5682G>A (p.Gln1894=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002094118] |
Chr16:15715013 [GRCh38]
Chr16:15808870 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9292_948-9291insT |
insertion |
Aortic aneurysm, familial thoracic 4 [RCV002131496] |
Chr16:15714899..15714900 [GRCh38]
Chr16:15808756..15808757 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*627G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002075924] |
Chr16:15724878 [GRCh38]
Chr16:15818735 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5130G>A (p.Lys1710=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002107323] |
Chr16:15719261 [GRCh38]
Chr16:15813118 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.810G>A (p.Arg270=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002172834] |
Chr16:15776157 [GRCh38]
Chr16:15870014 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.573C>A (p.Val191=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002171187] |
Chr16:15786690 [GRCh38]
Chr16:15880547 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.*553A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002171686] |
Chr16:15724804 [GRCh38]
Chr16:15818661 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3506+8G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002147508] |
Chr16:15735358 [GRCh38]
Chr16:15829215 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3583C>T (p.Gln1195Ter) |
single nucleotide variant |
not provided [RCV002224734] |
Chr16:15732632 [GRCh38]
Chr16:15826489 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5367G>A (p.Gln1789=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002214714] |
Chr16:15717277 [GRCh38]
Chr16:15811134 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2349T>C (p.Asp783=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002077699] |
Chr16:15747632 [GRCh38]
Chr16:15841489 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.39C>T (p.Phe13=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002108173] |
Chr16:15838214 [GRCh38]
Chr16:15932071 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-4047C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002094181] |
Chr16:15720144 [GRCh38]
Chr16:15814001 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1576-17C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002106144] |
Chr16:15756531 [GRCh38]
Chr16:15850388 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.3858+16G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002206964] |
Chr16:15726832 [GRCh38]
Chr16:15820689 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1908G>A (p.Glu636=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002076795]|Aortic aneurysm, familial thoracic 4 [RCV002479844]|Familial thoracic aortic aneurysm and aortic dissection [RCV002407335] |
Chr16:15750288 [GRCh38]
Chr16:15844145 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5298C>G (p.Ala1766=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002077888] |
Chr16:15717346 [GRCh38]
Chr16:15811203 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4128G>T (p.Ser1376=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002195072] |
Chr16:15724398 [GRCh38]
Chr16:15818255 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2145C>T (p.Phe715=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002196951] |
Chr16:15748082 [GRCh38]
Chr16:15841939 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1926C>T (p.Ala642=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002212449] |
Chr16:15750270 [GRCh38]
Chr16:15844127 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2652+17A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002096392] |
Chr16:15741743 [GRCh38]
Chr16:15835600 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+11_1401+15dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV002103749] |
Chr16:15759560..15759561 [GRCh38]
Chr16:15853417..15853418 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.228C>T (p.Ile76=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002175328] |
Chr16:15838025 [GRCh38]
Chr16:15931882 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-3129A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002177377] |
Chr16:15721062 [GRCh38]
Chr16:15814919 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1990C>T (p.Leu664=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002179544] |
Chr16:15750206 [GRCh38]
Chr16:15844063 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4776G>A (p.Arg1592=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002176292] |
Chr16:15720854 [GRCh38]
Chr16:15814711 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+13G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002202683] |
Chr16:15759563 [GRCh38]
Chr16:15853420 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9289T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002103080]|not provided [RCV003418374] |
Chr16:15714902 [GRCh38]
Chr16:15808759 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_017668.3(NDE1):c.948-44C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002177190] |
Chr16:15724147 [GRCh38]
Chr16:15818004 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3274C>T (p.Leu1092=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002159900] |
Chr16:15737468 [GRCh38]
Chr16:15831325 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3652-13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002083573] |
Chr16:15727067 [GRCh38]
Chr16:15820924 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-7071G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002218942] |
Chr16:15717120 [GRCh38]
Chr16:15810977 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.5817C>T (p.Pro1939=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002177766] |
Chr16:15708832 [GRCh38]
Chr16:15802689 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1689C>T (p.Phe563=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002138019]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528353] |
Chr16:15756401 [GRCh38]
Chr16:15850258 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2632C>T (p.Leu878=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002102518] |
Chr16:15741780 [GRCh38]
Chr16:15835637 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1263A>G (p.Val421=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002084084] |
Chr16:15759714 [GRCh38]
Chr16:15853571 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+8T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002124235] |
Chr16:15759568 [GRCh38]
Chr16:15853425 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-5749G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002143933] |
Chr16:15718442 [GRCh38]
Chr16:15812299 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002159083] |
Chr16:15745250 [GRCh38]
Chr16:15839107 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.867T>C (p.Ala289=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002082740] |
Chr16:15776100 [GRCh38]
Chr16:15869957 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2493C>T (p.Asn831=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002164579] |
Chr16:15745156 [GRCh38]
Chr16:15839013 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.918C>T (p.Asn306=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002202879] |
Chr16:15771684 [GRCh38]
Chr16:15865541 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4005T>G (p.Ser1335=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002199769] |
Chr16:15724758 [GRCh38]
Chr16:15818615 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9088dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV002122832] |
Chr16:15715099..15715100 [GRCh38]
Chr16:15808956..15808957 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_017668.3(NDE1):c.948-4866A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002159209] |
Chr16:15719325 [GRCh38]
Chr16:15813182 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-9290C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002182669] |
Chr16:15714901 [GRCh38]
Chr16:15808758 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3984C>G (p.Thr1328=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002198373] |
Chr16:15724779 [GRCh38]
Chr16:15818636 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4227G>A (p.Glu1409=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002139713] |
Chr16:15724299 [GRCh38]
Chr16:15818156 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5454G>C (p.Ala1818=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002203697] |
Chr16:15717190 [GRCh38]
Chr16:15811047 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2997+18G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002217502] |
Chr16:15740033 [GRCh38]
Chr16:15833890 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1410C>T (p.Ser470=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002217507] |
Chr16:15757992 [GRCh38]
Chr16:15851849 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3018G>A (p.Glu1006=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002162013]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441250] |
Chr16:15738668 [GRCh38]
Chr16:15832525 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1034-19C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002143460] |
Chr16:15763910 [GRCh38]
Chr16:15857767 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5286C>T (p.Ala1762=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002178624] |
Chr16:15718324 [GRCh38]
Chr16:15812181 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2652+18T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002219954] |
Chr16:15741742 [GRCh38]
Chr16:15835599 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.261G>A (p.Val87=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002101441] |
Chr16:15837992 [GRCh38]
Chr16:15931849 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4546C>T (p.Leu1516=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002159274] |
Chr16:15721454 [GRCh38]
Chr16:15815311 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.72A>G (p.Pro24=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002219054] |
Chr16:15838181 [GRCh38]
Chr16:15932038 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+12G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002100961] |
Chr16:15757815 [GRCh38]
Chr16:15851672 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_017668.3(NDE1):c.948-4617C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002160687] |
Chr16:15719574 [GRCh38]
Chr16:15813431 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5336C>G (p.Thr1779Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002204533]|Aortic aneurysm, familial thoracic 4 [RCV003224622] |
Chr16:15717308 [GRCh38]
Chr16:15811165 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.306A>G (p.Leu102=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002182049] |
Chr16:15837947 [GRCh38]
Chr16:15931804 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2251-9C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002082803] |
Chr16:15747739 [GRCh38]
Chr16:15841596 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.132C>T (p.Gly44=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002200989]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528356] |
Chr16:15838121 [GRCh38]
Chr16:15931978 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1449G>A (p.Leu483=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002201014] |
Chr16:15757953 [GRCh38]
Chr16:15851810 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3465G>A (p.Leu1155=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002122295] |
Chr16:15735407 [GRCh38]
Chr16:15829264 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.5814C>A (p.Pro1938=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002157569] |
Chr16:15708835 [GRCh38]
Chr16:15802692 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1047G>T (p.Val349=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002159214] |
Chr16:15763878 [GRCh38]
Chr16:15857735 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3880G>A (p.Gly1294Arg) |
single nucleotide variant |
not provided [RCV003110032] |
Chr16:15724971 [GRCh38]
Chr16:15818828 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4116+8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003115627] |
Chr16:15724639 [GRCh38]
Chr16:15818496 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NC_000016.9:g.(?_15758636)_(17564653_?)del |
deletion |
Desbuquois dysplasia 1 [RCV003111473] |
Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| NM_002474.3(MYH11):c.1560G>A (p.Glu520=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003118546] |
Chr16:15757842 [GRCh38]
Chr16:15851699 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NC_000016.9:g.(?_15857633)_(15857768_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003122379] |
Chr16:15857633..15857768 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15892497)_(15892564_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003122380] |
Chr16:15892497..15892564 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NC_000016.9:g.(?_15832402)_(15850391_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003122381] |
Chr16:15832402..15850391 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NC_000016.9:g.(?_15826401)_(15829455_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003122382] |
Chr16:15826401..15829455 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NC_000016.9:g.(?_15808746)_(15818869_?)del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003122383] |
Chr16:15808746..15818869 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.9:g.(?_15838966)_(15850391_?)dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV003122384] |
Chr16:15838966..15850391 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3841A>G (p.Lys1281Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003118859] |
Chr16:15726865 [GRCh38]
Chr16:15820722 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2796G>A (p.Glu932=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003119441] |
Chr16:15741526 [GRCh38]
Chr16:15835383 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5786+12G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003121174] |
Chr16:15714897 [GRCh38]
Chr16:15808754 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1750-1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002250132] |
Chr16:15753509 [GRCh38]
Chr16:15847366 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3190G>A (p.Ala1064Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002251004] |
Chr16:15737552 [GRCh38]
Chr16:15831409 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3 |
copy number gain |
See cases [RCV002246173] |
Chr16:14886858..16328857 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5230_5231delinsCT (p.Glu1744Leu) |
indel |
not provided [RCV003152283] |
Chr16:15718379..15718380 [GRCh38]
Chr16:15812236..15812237 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1791C>T (p.Asp597=) |
single nucleotide variant |
not specified [RCV002266304] |
Chr16:15753467 [GRCh38]
Chr16:15847324 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3981A>G (p.Glu1327=) |
single nucleotide variant |
not provided [RCV002292918] |
Chr16:15724782 [GRCh38]
Chr16:15818639 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3 |
copy number gain |
not provided [RCV002292935] |
Chr16:15457516..17564653 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833) |
copy number gain |
Autism [RCV002280692] |
Chr16:15316618..18770833 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:14927857-16537664) |
copy number gain |
Autism [RCV002280694] |
Chr16:14927857..16537664 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5295+1G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002287211] |
Chr16:15718314 [GRCh38]
Chr16:15812171 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5417G>C (p.Gly1806Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629215]|Familial thoracic aortic aneurysm and aortic dissection [RCV002349448] |
Chr16:15717227 [GRCh38]
Chr16:15811084 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3122-2_3124del |
deletion |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV002279754] |
Chr16:15737618..15737622 [GRCh38]
Chr16:15831475..15831479 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15551302-16194578)x1 |
copy number loss |
Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV002279760] |
Chr16:15551302..16194578 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2375C>T (p.Ala792Val) |
single nucleotide variant |
not provided [RCV002269764] |
Chr16:15747606 [GRCh38]
Chr16:15841463 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1707C>G (p.Leu569=) |
single nucleotide variant |
not specified [RCV003236477] |
Chr16:15756383 [GRCh38]
Chr16:15850240 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2226C>A (p.Asp742Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002427755]|not provided [RCV002286919] |
Chr16:15747898 [GRCh38]
Chr16:15841755 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2067G>C (p.Lys689Asn) |
single nucleotide variant |
not provided [RCV002288117] |
Chr16:15748160 [GRCh38]
Chr16:15842017 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2012C>T (p.Thr671Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002288333] |
Chr16:15750184 [GRCh38]
Chr16:15844041 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3 |
copy number gain |
See cases [RCV002286336] |
Chr16:15416917..18770833 [GRCh37]
Chr16:16p13.11-12.3 |
uncertain significance |
| NM_002474.3(MYH11):c.3635T>G (p.Leu1212Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452386] |
Chr16:15732580 [GRCh38]
Chr16:15826437 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.713A>G (p.Asn238Ser) |
single nucleotide variant |
not provided [RCV002293671] |
Chr16:15782398 [GRCh38]
Chr16:15876255 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15416716-16529801)x3 |
copy number gain |
See cases [RCV002287559] |
Chr16:15416716..16529801 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3874G>T (p.Val1292Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366270] |
Chr16:15724977 [GRCh38]
Chr16:15818834 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2834G>T (p.Arg945Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002435159] |
Chr16:15741488 [GRCh38]
Chr16:15835345 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3402G>C (p.Arg1134Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452095] |
Chr16:15735470 [GRCh38]
Chr16:15829327 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.363C>T (p.Phe121=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452411] |
Chr16:15823394 [GRCh38]
Chr16:15917251 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.963G>A (p.Gln321=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002385366] |
Chr16:15771639 [GRCh38]
Chr16:15865496 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3672_3674del (p.Lys1224del) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452663] |
Chr16:15727032..15727034 [GRCh38]
Chr16:15820889..15820891 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1257T>C (p.Phe419=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002421417] |
Chr16:15759720 [GRCh38]
Chr16:15853577 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5444_5448dup (p.Ala1817fs) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349621] |
Chr16:15717195..15717196 [GRCh38]
Chr16:15811052..15811053 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2733G>T (p.Val911=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437497] |
Chr16:15741589 [GRCh38]
Chr16:15835446 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3580G>T (p.Val1194Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002455090] |
Chr16:15732635 [GRCh38]
Chr16:15826492 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2736G>C (p.Arg912=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437535] |
Chr16:15741586 [GRCh38]
Chr16:15835443 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.986C>T (p.Thr329Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003774218]|Familial thoracic aortic aneurysm and aortic dissection [RCV002387352] |
Chr16:15771616 [GRCh38]
Chr16:15865473 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1953C>T (p.Arg651=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002421573] |
Chr16:15750243 [GRCh38]
Chr16:15844100 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3605C>T (p.Ala1202Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629262]|Familial thoracic aortic aneurysm and aortic dissection [RCV003301232] |
Chr16:15732610 [GRCh38]
Chr16:15826467 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4058A>T (p.Asp1353Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301237] |
Chr16:15724705 [GRCh38]
Chr16:15818562 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4866G>A (p.Leu1622=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301238] |
Chr16:15720238 [GRCh38]
Chr16:15814095 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.531A>G (p.Thr177=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301239] |
Chr16:15786732 [GRCh38]
Chr16:15880589 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15509407-16330477)x3 |
copy number gain |
not provided [RCV002472550] |
Chr16:15509407..16330477 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5401C>T (p.Leu1801Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347275] |
Chr16:15717243 [GRCh38]
Chr16:15811100 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14925995-16309165)x3 |
copy number gain |
not provided [RCV002473711] |
Chr16:14925995..16309165 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15509407-16309046)x3 |
copy number gain |
not provided [RCV002472724] |
Chr16:15509407..16309046 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15449697-16391045)x1 |
copy number loss |
not provided [RCV002472615] |
Chr16:15449697..16391045 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.4948C>A (p.Leu1650Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342706] |
Chr16:15720156 [GRCh38]
Chr16:15814013 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4578+1del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002468867] |
Chr16:15721421 [GRCh38]
Chr16:15815278 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15509592-16309165)x3 |
copy number gain |
not provided [RCV002472723] |
Chr16:15509592..16309165 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3 |
copy number gain |
not provided [RCV002473916] |
Chr16:14365745..17052798 [GRCh37]
Chr16:16p13.12-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15509407-15858075)x3 |
copy number gain |
not provided [RCV002474731] |
Chr16:15509407..15858075 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15509729-16255865)x3 |
copy number gain |
not provided [RCV002472817] |
Chr16:15509729..16255865 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15481921-16330672)x3 |
copy number gain |
not provided [RCV002474550] |
Chr16:15481921..16330672 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.2019C>A (p.Pro673=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002417432] |
Chr16:15750177 [GRCh38]
Chr16:15844034 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15509407-16330672)x3 |
copy number gain |
not provided [RCV002474521] |
Chr16:15509407..16330672 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5308A>C (p.Ser1770Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344622] |
Chr16:15717336 [GRCh38]
Chr16:15811193 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15509407-16527476)x3 |
copy number gain |
not provided [RCV002474571] |
Chr16:15509407..16527476 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3 |
copy number gain |
not provided [RCV002472531] |
Chr16:15316939..18770833 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| NM_002474.3(MYH11):c.5597A>G (p.Glu1866Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344844] |
Chr16:15715180 [GRCh38]
Chr16:15809037 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2174G>A (p.Arg725His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002432791] |
Chr16:15748053 [GRCh38]
Chr16:15841910 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1345C>T (p.Arg449Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002387806] |
Chr16:15759632 [GRCh38]
Chr16:15853489 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.312C>T (p.Asn104=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003099221]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320566] |
Chr16:15837941 [GRCh38]
Chr16:15931798 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4684A>G (p.Lys1562Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335216] |
Chr16:15720946 [GRCh38]
Chr16:15814803 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.651G>A (p.Gln217=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364223] |
Chr16:15782460 [GRCh38]
Chr16:15876317 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5834G>A (p.Arg1945His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353253] |
Chr16:15704076 [GRCh38]
Chr16:15797933 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.474A>T (p.Ala158=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335548] |
Chr16:15823283 [GRCh38]
Chr16:15917140 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3130A>C (p.Lys1044Gln) |
single nucleotide variant |
not provided [RCV003131625] |
Chr16:15737612 [GRCh38]
Chr16:15831469 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4519A>C (p.Lys1507Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339966] |
Chr16:15721481 [GRCh38]
Chr16:15815338 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347744] |
Chr16:15714961 [GRCh38]
Chr16:15808818 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4404G>A (p.Ala1468=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003094682]|Familial thoracic aortic aneurysm and aortic dissection [RCV002333769] |
Chr16:15721596 [GRCh38]
Chr16:15815453 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.4244A>G (p.Tyr1415Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329799] |
Chr16:15724282 [GRCh38]
Chr16:15818139 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15509407-16319630)x3 |
copy number gain |
not provided [RCV002472542] |
Chr16:15509407..16319630 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3 |
copy number gain |
not provided [RCV002472543] |
Chr16:15423704..16327961 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.4092C>G (p.Arg1364=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629212]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323247]|MYH11-related condition [RCV003896128] |
Chr16:15724671 [GRCh38]
Chr16:15818528 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5809G>C (p.Val1937Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359933] |
Chr16:15704101 [GRCh38]
Chr16:15797958 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1414G>C (p.Glu472Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003095122]|Familial thoracic aortic aneurysm and aortic dissection [RCV002391668] |
Chr16:15757988 [GRCh38]
Chr16:15851845 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2922C>G (p.Val974=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439974] |
Chr16:15740126 [GRCh38]
Chr16:15833983 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.729C>A (p.Gly243=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003098529]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382714] |
Chr16:15778841 [GRCh38]
Chr16:15872698 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4630A>T (p.Met1544Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330409] |
Chr16:15721000 [GRCh38]
Chr16:15814857 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.348G>T (p.Thr116=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459011] |
Chr16:15823409 [GRCh38]
Chr16:15917266 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4238C>A (p.Ala1413Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328162] |
Chr16:15724288 [GRCh38]
Chr16:15818145 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5268C>T (p.Ser1756=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003096674]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341052] |
Chr16:15718342 [GRCh38]
Chr16:15812199 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3990G>A (p.Gln1330=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002375588] |
Chr16:15724773 [GRCh38]
Chr16:15818630 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4801T>G (p.Tyr1601Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337890] |
Chr16:15720303 [GRCh38]
Chr16:15814160 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2917A>G (p.Lys973Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439886] |
Chr16:15740131 [GRCh38]
Chr16:15833988 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.678G>A (p.Glu226=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003098376]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369395] |
Chr16:15782433 [GRCh38]
Chr16:15876290 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5149C>A (p.Leu1717Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514563]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338237] |
Chr16:15719242 [GRCh38]
Chr16:15813099 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3687G>A (p.Leu1229=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457445] |
Chr16:15727019 [GRCh38]
Chr16:15820876 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2292G>A (p.Gly764=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457490] |
Chr16:15747689 [GRCh38]
Chr16:15841546 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.952C>T (p.Pro318Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002374238] |
Chr16:15771650 [GRCh38]
Chr16:15865507 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4511G>T (p.Arg1504Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339924] |
Chr16:15721489 [GRCh38]
Chr16:15815346 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4762GAG[1] (p.Glu1589del) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528365]|not provided [RCV002300811] |
Chr16:15720863..15720865 [GRCh38]
Chr16:15814720..15814722 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2100G>A (p.Arg700=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629231]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424221] |
Chr16:15748127 [GRCh38]
Chr16:15841984 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4725G>T (p.Gln1575His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335435] |
Chr16:15720905 [GRCh38]
Chr16:15814762 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3564G>A (p.Arg1188=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002339800] |
Chr16:15732651 [GRCh38]
Chr16:15826508 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.381C>T (p.Pro127=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002355313] |
Chr16:15823376 [GRCh38]
Chr16:15917233 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2425A>G (p.Arg809Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459824] |
Chr16:15745224 [GRCh38]
Chr16:15839081 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3542A>C (p.Lys1181Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459498] |
Chr16:15732673 [GRCh38]
Chr16:15826530 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.890-4C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002376073] |
Chr16:15771716 [GRCh38]
Chr16:15865573 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.175G>A (p.Val59Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002401650] |
Chr16:15838078 [GRCh38]
Chr16:15931935 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.922A>G (p.Thr308Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002371307] |
Chr16:15771680 [GRCh38]
Chr16:15865537 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2251A>C (p.Ile751Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629232]|Familial thoracic aortic aneurysm and aortic dissection [RCV002443541] |
Chr16:15747730 [GRCh38]
Chr16:15841587 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4568T>C (p.Val1523Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340232] |
Chr16:15721432 [GRCh38]
Chr16:15815289 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.205G>A (p.Val69Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002421947] |
Chr16:15838048 [GRCh38]
Chr16:15931905 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2328C>T (p.Ala776=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002448170] |
Chr16:15747653 [GRCh38]
Chr16:15841510 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3321C>G (p.Asn1107Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326384] |
Chr16:15735551 [GRCh38]
Chr16:15829408 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3427G>A (p.Asp1143Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002297902] |
Chr16:15735445 [GRCh38]
Chr16:15829302 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5163G>A (p.Leu1721=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629214]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338331] |
Chr16:15719228 [GRCh38]
Chr16:15813085 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3625A>C (p.Thr1209Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002460319] |
Chr16:15732590 [GRCh38]
Chr16:15826447 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.660A>G (p.Gln220=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364577] |
Chr16:15782451 [GRCh38]
Chr16:15876308 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4243T>G (p.Tyr1415Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329796] |
Chr16:15724283 [GRCh38]
Chr16:15818140 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3219C>T (p.Asp1073=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002324658] |
Chr16:15737523 [GRCh38]
Chr16:15831380 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4685A>T (p.Lys1562Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002299633] |
Chr16:15720945 [GRCh38]
Chr16:15814802 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4257A>G (p.Glu1419=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329902] |
Chr16:15724269 [GRCh38]
Chr16:15818126 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3202C>T (p.His1068Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629210]|Familial thoracic aortic aneurysm and aortic dissection [RCV002443362] |
Chr16:15737540 [GRCh38]
Chr16:15831397 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4070A>C (p.Glu1357Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321465] |
Chr16:15724693 [GRCh38]
Chr16:15818550 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3041A>G (p.Asn1014Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002444010] |
Chr16:15738645 [GRCh38]
Chr16:15832502 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2547G>A (p.Arg849=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002455813] |
Chr16:15741865 [GRCh38]
Chr16:15835722 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2385G>T (p.Ala795=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457942] |
Chr16:15747596 [GRCh38]
Chr16:15841453 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3846C>G (p.Val1282=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002355455] |
Chr16:15726860 [GRCh38]
Chr16:15820717 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2741C>A (p.Ala914Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439250] |
Chr16:15741581 [GRCh38]
Chr16:15835438 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5838A>G (p.Arg1946=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353261] |
Chr16:15704072 [GRCh38]
Chr16:15797929 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4091G>A (p.Arg1364His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514560]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323240] |
Chr16:15724672 [GRCh38]
Chr16:15818529 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4800G>A (p.Glu1600=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337881] |
Chr16:15720304 [GRCh38]
Chr16:15814161 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4435A>C (p.Arg1479=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328232] |
Chr16:15721565 [GRCh38]
Chr16:15815422 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5219A>G (p.Gln1740Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340799] |
Chr16:15718391 [GRCh38]
Chr16:15812248 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5226G>A (p.Glu1742=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340820] |
Chr16:15718384 [GRCh38]
Chr16:15812241 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1109C>T (p.Ala370Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002428777] |
Chr16:15763816 [GRCh38]
Chr16:15857673 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.972G>A (p.Glu324=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002376728] |
Chr16:15771630 [GRCh38]
Chr16:15865487 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1461C>T (p.Phe487=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002396737] |
Chr16:15757941 [GRCh38]
Chr16:15851798 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5856T>C (p.Asp1952=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353362] |
Chr16:15704054 [GRCh38]
Chr16:15797911 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3933G>C (p.Ala1311=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002373238] |
Chr16:15724918 [GRCh38]
Chr16:15818775 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3949C>G (p.Leu1317Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002373314] |
Chr16:15724902 [GRCh38]
Chr16:15818759 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4419A>G (p.Arg1473=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002333866] |
Chr16:15721581 [GRCh38]
Chr16:15815438 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.609G>A (p.Lys203=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360116] |
Chr16:15786654 [GRCh38]
Chr16:15880511 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4618C>G (p.Gln1540Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330370] |
Chr16:15721012 [GRCh38]
Chr16:15814869 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5865G>A (p.Glu1955=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353430]|MYH11-related condition [RCV003916456] |
Chr16:15704045 [GRCh38]
Chr16:15797902 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3699C>T (p.Asn1233=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003775707]|Familial thoracic aortic aneurysm and aortic dissection [RCV002346771] |
Chr16:15727007 [GRCh38]
Chr16:15820864 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2429A>G (p.Gln810Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002450440] |
Chr16:15745220 [GRCh38]
Chr16:15839077 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4359T>C (p.Phe1453=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332318] |
Chr16:15724167 [GRCh38]
Chr16:15818024 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3425G>A (p.Arg1142Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003099473]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456981] |
Chr16:15735447 [GRCh38]
Chr16:15829304 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5073G>A (p.Gln1691=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003096602]|Familial thoracic aortic aneurysm and aortic dissection [RCV002335842] |
Chr16:15719594 [GRCh38]
Chr16:15813451 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2263G>C (p.Glu755Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002443779] |
Chr16:15747718 [GRCh38]
Chr16:15841575 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4056G>T (p.Leu1352=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003094499]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321332] |
Chr16:15724707 [GRCh38]
Chr16:15818564 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4588C>A (p.Leu1530Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342249] |
Chr16:15721042 [GRCh38]
Chr16:15814899 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4968C>G (p.Asp1656Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342820] |
Chr16:15719699 [GRCh38]
Chr16:15813556 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1887C>T (p.Asp629=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002407946] |
Chr16:15750309 [GRCh38]
Chr16:15844166 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1493_1494del (p.Glu498fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003629224]|Familial thoracic aortic aneurysm and aortic dissection [RCV002389739] |
Chr16:15757908..15757909 [GRCh38]
Chr16:15851765..15851766 [GRCh37]
Chr16:16p13.11 |
pathogenic|uncertain significance |
| NM_002474.3(MYH11):c.3475C>A (p.Leu1159Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457312] |
Chr16:15735397 [GRCh38]
Chr16:15829254 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1992G>A (p.Leu664=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002423863] |
Chr16:15750204 [GRCh38]
Chr16:15844061 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2285G>A (p.Arg762Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002298404] |
Chr16:15747696 [GRCh38]
Chr16:15841553 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3165G>A (p.Lys1055=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003102319]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322559] |
Chr16:15737577 [GRCh38]
Chr16:15831434 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2109G>T (p.Gly703=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002424348] |
Chr16:15748118 [GRCh38]
Chr16:15841975 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2349T>G (p.Asp783Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002428539] |
Chr16:15747632 [GRCh38]
Chr16:15841489 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3807C>A (p.Ser1269Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514557]|Familial thoracic aortic aneurysm and aortic dissection [RCV002355212] |
Chr16:15726899 [GRCh38]
Chr16:15820756 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2786C>A (p.Ala929Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441357] |
Chr16:15741536 [GRCh38]
Chr16:15835393 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4413G>A (p.Arg1471=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629213]|Familial thoracic aortic aneurysm and aortic dissection [RCV002333839] |
Chr16:15721587 [GRCh38]
Chr16:15815444 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2953G>A (p.Asp985Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441899] |
Chr16:15740095 [GRCh38]
Chr16:15833952 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5907G>A (p.Lys1969=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002355727] |
Chr16:15704003 [GRCh38]
Chr16:15797860 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.699A>G (p.Thr233=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629217]|Familial thoracic aortic aneurysm and aortic dissection [RCV002364700] |
Chr16:15782412 [GRCh38]
Chr16:15876269 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5299G>C (p.Glu1767Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344554] |
Chr16:15717345 [GRCh38]
Chr16:15811202 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4263C>G (p.Thr1421=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002329961] |
Chr16:15724263 [GRCh38]
Chr16:15818120 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5796C>A (p.Asn1932Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359789] |
Chr16:15704114 [GRCh38]
Chr16:15797971 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5579A>G (p.Asp1860Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344728] |
Chr16:15715198 [GRCh38]
Chr16:15809055 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4288G>A (p.Asp1430Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003094626]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330169]|Inborn genetic diseases [RCV003269167] |
Chr16:15724238 [GRCh38]
Chr16:15818095 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.564C>G (p.Thr188=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002345168] |
Chr16:15786699 [GRCh38]
Chr16:15880556 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3236C>T (p.Ala1079Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002445568] |
Chr16:15737506 [GRCh38]
Chr16:15831363 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4241C>A (p.Ala1414Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328213] |
Chr16:15724285 [GRCh38]
Chr16:15818142 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4949T>A (p.Leu1650Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342707] |
Chr16:15720155 [GRCh38]
Chr16:15814012 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1926C>G (p.Ala642=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002410800] |
Chr16:15750270 [GRCh38]
Chr16:15844127 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1707C>T (p.Leu569=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002414748] |
Chr16:15756383 [GRCh38]
Chr16:15850240 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2163C>T (p.Phe721=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002432623] |
Chr16:15748064 [GRCh38]
Chr16:15841921 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.522T>C (p.Ile174=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340855] |
Chr16:15798668 [GRCh38]
Chr16:15892525 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5230G>A (p.Glu1744Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340860] |
Chr16:15718380 [GRCh38]
Chr16:15812237 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4811A>T (p.Glu1604Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337965] |
Chr16:15720293 [GRCh38]
Chr16:15814150 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4839C>A (p.Ala1613=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338108] |
Chr16:15720265 [GRCh38]
Chr16:15814122 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5614G>C (p.Ala1872Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344976] |
Chr16:15715081 [GRCh38]
Chr16:15808938 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4873G>A (p.Asp1625Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330813] |
Chr16:15720231 [GRCh38]
Chr16:15814088 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3541A>G (p.Lys1181Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459495] |
Chr16:15732674 [GRCh38]
Chr16:15826531 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.990G>A (p.Val330=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629220]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382793] |
Chr16:15771612 [GRCh38]
Chr16:15865469 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4991C>G (p.Ala1664Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342955] |
Chr16:15719676 [GRCh38]
Chr16:15813533 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1575G>A (p.Pro525=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002392628] |
Chr16:15757827 [GRCh38]
Chr16:15851684 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5002A>C (p.Arg1668=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002343071] |
Chr16:15719665 [GRCh38]
Chr16:15813522 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2743G>T (p.Ala915Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439278] |
Chr16:15741579 [GRCh38]
Chr16:15835436 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2428C>G (p.Gln810Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459853] |
Chr16:15745221 [GRCh38]
Chr16:15839078 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5836A>G (p.Arg1946Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353257] |
Chr16:15704074 [GRCh38]
Chr16:15797931 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5879C>A (p.Thr1960Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353500] |
Chr16:15704031 [GRCh38]
Chr16:15797888 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3951C>G (p.Leu1317=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002375431] |
Chr16:15724900 [GRCh38]
Chr16:15818757 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1099A>G (p.Thr367Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003101832]|Familial thoracic aortic aneurysm and aortic dissection [RCV002430684] |
Chr16:15763826 [GRCh38]
Chr16:15857683 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4686A>C (p.Lys1562Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002616208] |
Chr16:15720944 [GRCh38]
Chr16:15814801 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3111A>T (p.Ser1037=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002862406] |
Chr16:15738575 [GRCh38]
Chr16:15832432 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3855G>A (p.Leu1285=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002971111] |
Chr16:15726851 [GRCh38]
Chr16:15820708 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.436A>T (p.Lys146Ter) |
single nucleotide variant |
not provided [RCV002511833] |
Chr16:15823321 [GRCh38]
Chr16:15917178 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.213T>G (p.Val71=) |
single nucleotide variant |
not provided [RCV002511834] |
Chr16:15838040 [GRCh38]
Chr16:15931897 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3 |
copy number gain |
not provided [RCV002511850] |
Chr16:14927709..16484731 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.4601A>G (p.Lys1534Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002771782] |
Chr16:15721029 [GRCh38]
Chr16:15814886 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4629G>A (p.Glu1543=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002858681] |
Chr16:15721001 [GRCh38]
Chr16:15814858 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2652+14T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002994993] |
Chr16:15741746 [GRCh38]
Chr16:15835603 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.115C>G (p.Pro39Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002681173]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167607] |
Chr16:15838138 [GRCh38]
Chr16:15931995 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1647C>T (p.Phe549=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514596]|not provided [RCV002511832] |
Chr16:15756443 [GRCh38]
Chr16:15850300 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4885C>T (p.Leu1629=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002995329] |
Chr16:15720219 [GRCh38]
Chr16:15814076 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1503C>A (p.Arg501=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003076810] |
Chr16:15757899 [GRCh38]
Chr16:15851756 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5171+12_5171+15del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002947234] |
Chr16:15719205..15719208 [GRCh38]
Chr16:15813062..15813065 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2346A>G (p.Arg782=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002881858] |
Chr16:15747635 [GRCh38]
Chr16:15841492 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5742C>G (p.Asn1914Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002975458] |
Chr16:15714953 [GRCh38]
Chr16:15808810 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4554C>T (p.Ser1518=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003035178] |
Chr16:15721446 [GRCh38]
Chr16:15815303 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.651G>C (p.Gln217His) |
single nucleotide variant |
Inborn genetic diseases [RCV002883850] |
Chr16:15782460 [GRCh38]
Chr16:15876317 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2409A>G (p.Arg803=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003076724]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528418] |
Chr16:15747572 [GRCh38]
Chr16:15841429 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5097T>G (p.Ala1699=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002819489] |
Chr16:15719294 [GRCh38]
Chr16:15813151 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.530+18T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002908816] |
Chr16:15798642 [GRCh38]
Chr16:15892499 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4862A>T (p.Lys1621Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002728324] |
Chr16:15720242 [GRCh38]
Chr16:15814099 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4472C>T (p.Ala1491Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002776752] |
Chr16:15721528 [GRCh38]
Chr16:15815385 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5003G>C (p.Arg1668Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002967839] |
Chr16:15719664 [GRCh38]
Chr16:15813521 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2998-11T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002882064] |
Chr16:15738699 [GRCh38]
Chr16:15832556 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5636T>C (p.Val1879Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002991497] |
Chr16:15715059 [GRCh38]
Chr16:15808916 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2130C>T (p.Ile710=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002686325] |
Chr16:15748097 [GRCh38]
Chr16:15841954 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2277C>T (p.Asn759=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002996444] |
Chr16:15747704 [GRCh38]
Chr16:15841561 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2350T>C (p.Leu784=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002975322] |
Chr16:15747631 [GRCh38]
Chr16:15841488 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2894C>T (p.Ala965Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002908248] |
Chr16:15740154 [GRCh38]
Chr16:15834011 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1130-10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003016104] |
Chr16:15760668 [GRCh38]
Chr16:15854525 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4954-17_4954-7dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV002838472] |
Chr16:15719719..15719720 [GRCh38]
Chr16:15813576..15813577 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.345+9T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002953782] |
Chr16:15837899 [GRCh38]
Chr16:15931756 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2412-8C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003055771] |
Chr16:15745245 [GRCh38]
Chr16:15839102 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4567G>A (p.Val1523Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002662779]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528408]|not provided [RCV003491136] |
Chr16:15721433 [GRCh38]
Chr16:15815290 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1616G>A (p.Cys539Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003055807] |
Chr16:15756474 [GRCh38]
Chr16:15850331 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3652-2A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002639999] |
Chr16:15727056 [GRCh38]
Chr16:15820913 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.1515G>A (p.Glu505=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002571793] |
Chr16:15757887 [GRCh38]
Chr16:15851744 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2679G>A (p.Gln893=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003055221] |
Chr16:15741643 [GRCh38]
Chr16:15835500 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.634C>G (p.Gln212Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003021990] |
Chr16:15784718 [GRCh38]
Chr16:15878575 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3045T>C (p.Leu1015=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002948367] |
Chr16:15738641 [GRCh38]
Chr16:15832498 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4713G>A (p.Ala1571=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002640237] |
Chr16:15720917 [GRCh38]
Chr16:15814774 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3506+8G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002976195] |
Chr16:15735358 [GRCh38]
Chr16:15829215 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3859-16C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002979562] |
Chr16:15725008 [GRCh38]
Chr16:15818865 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1861G>A (p.Asp621Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003079895] |
Chr16:15753397 [GRCh38]
Chr16:15847254 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4609C>T (p.Leu1537=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003017974] |
Chr16:15721021 [GRCh38]
Chr16:15814878 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4954-10A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002866722] |
Chr16:15719723 [GRCh38]
Chr16:15813580 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2753A>G (p.Gln918Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002620245]|not provided [RCV003149053] |
Chr16:15741569 [GRCh38]
Chr16:15835426 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4471G>A (p.Ala1491Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002821741] |
Chr16:15721529 [GRCh38]
Chr16:15815386 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5171+15G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002760282] |
Chr16:15719205 [GRCh38]
Chr16:15813062 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5117C>T (p.Ala1706Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002923276]|not provided [RCV003234213] |
Chr16:15719274 [GRCh38]
Chr16:15813131 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5295+9C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002659690] |
Chr16:15718306 [GRCh38]
Chr16:15812163 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+12T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002619774]|MYH11-related condition [RCV003936597] |
Chr16:15759564 [GRCh38]
Chr16:15853421 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2859+12_2859+19del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002912449] |
Chr16:15741444..15741451 [GRCh38]
Chr16:15835301..15835308 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1867G>T (p.Asp623Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002824759] |
Chr16:15750329 [GRCh38]
Chr16:15844186 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5058A>G (p.Glu1686=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002847974] |
Chr16:15719609 [GRCh38]
Chr16:15813466 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1653G>A (p.Glu551=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002569658] |
Chr16:15756437 [GRCh38]
Chr16:15850294 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.890-5_890-3del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003054004] |
Chr16:15771715..15771717 [GRCh38]
Chr16:15865572..15865574 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2808C>G (p.Asp936Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002706606] |
Chr16:15741514 [GRCh38]
Chr16:15835371 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5748C>T (p.Ala1916=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002796320] |
Chr16:15714947 [GRCh38]
Chr16:15808804 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+6_1575+7insTGCCC |
insertion |
Aortic aneurysm, familial thoracic 4 [RCV002592788] |
Chr16:15757820..15757821 [GRCh38]
Chr16:15851677..15851678 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1206G>A (p.Lys402=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002638115]|Familial thoracic aortic aneurysm and aortic dissection [RCV003377914] |
Chr16:15760582 [GRCh38]
Chr16:15854439 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1506G>A (p.Glu502=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002852973] |
Chr16:15757896 [GRCh38]
Chr16:15851753 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5193G>A (p.Lys1731=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003056180] |
Chr16:15718417 [GRCh38]
Chr16:15812274 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3297del (p.Asp1100fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002894146] |
Chr16:15735575 [GRCh38]
Chr16:15829432 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.4586_4598inv (p.Glu1529_Ser1533delinsGlyLeuLeuGlnLeu) |
inversion |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528417]|not provided [RCV003059904] |
Chr16:15721032..15721044 [GRCh38]
Chr16:15814889..15814901 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4792-17C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002642410] |
Chr16:15720329 [GRCh38]
Chr16:15814186 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4791+12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002958957] |
Chr16:15720827 [GRCh38]
Chr16:15814684 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.791-10T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003082440] |
Chr16:15776186 [GRCh38]
Chr16:15870043 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5808-3_5808-2del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003056626] |
Chr16:15708843..15708844 [GRCh38]
Chr16:15802700..15802701 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5161C>T (p.Leu1721=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002872354] |
Chr16:15719230 [GRCh38]
Chr16:15813087 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5527T>A (p.Ser1843Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003005506] |
Chr16:15715250 [GRCh38]
Chr16:15809107 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5082+10C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003083684] |
Chr16:15719575 [GRCh38]
Chr16:15813432 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2334del (p.Glu779fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002828884] |
Chr16:15747647 [GRCh38]
Chr16:15841504 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1864+18C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003005837]|not specified [RCV003324062] |
Chr16:15753376 [GRCh38]
Chr16:15847233 [GRCh37]
Chr16:16p13.11 |
likely benign|uncertain significance |
| NM_002474.3(MYH11):c.5784C>T (p.Leu1928=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002663339] |
Chr16:15714911 [GRCh38]
Chr16:15808768 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3985C>T (p.Arg1329Trp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002664036]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294600] |
Chr16:15724778 [GRCh38]
Chr16:15818635 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5405A>C (p.His1802Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003042825] |
Chr16:15717239 [GRCh38]
Chr16:15811096 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3040A>C (p.Asn1014His) |
single nucleotide variant |
Inborn genetic diseases [RCV002803053] |
Chr16:15738646 [GRCh38]
Chr16:15832503 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.369G>T (p.Val123=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002710999] |
Chr16:15823388 [GRCh38]
Chr16:15917245 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4846G>C (p.Ala1616Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003085640]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528423] |
Chr16:15720258 [GRCh38]
Chr16:15814115 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1862A>G (p.Asp621Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002710870] |
Chr16:15753396 [GRCh38]
Chr16:15847253 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2778G>T (p.Glu926Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002667455] |
Chr16:15741544 [GRCh38]
Chr16:15835401 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5614-5G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002740780] |
Chr16:15715086 [GRCh38]
Chr16:15808943 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1248+10T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003023461] |
Chr16:15760530 [GRCh38]
Chr16:15854387 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5083-7_5083-4del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV002741750] |
Chr16:15719312..15719315 [GRCh38]
Chr16:15813169..15813172 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3284C>T (p.Ala1095Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003056653] |
Chr16:15737458 [GRCh38]
Chr16:15831315 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4114C>G (p.Gln1372Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002741393]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528411] |
Chr16:15724649 [GRCh38]
Chr16:15818506 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4117-6T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002985234]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528415] |
Chr16:15724415 [GRCh38]
Chr16:15818272 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5447T>C (p.Ile1816Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002875462] |
Chr16:15717197 [GRCh38]
Chr16:15811054 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.791-6A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002900124] |
Chr16:15776182 [GRCh38]
Chr16:15870039 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4188G>A (p.Arg1396=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002899261] |
Chr16:15724338 [GRCh38]
Chr16:15818195 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2649G>T (p.Ser883=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003048251] |
Chr16:15741763 [GRCh38]
Chr16:15835620 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4117-5T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003027724] |
Chr16:15724414 [GRCh38]
Chr16:15818271 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.889+20A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002647998] |
Chr16:15776058 [GRCh38]
Chr16:15869915 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.634-2A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003046725] |
Chr16:15782479 [GRCh38]
Chr16:15876336 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.3245A>G (p.Lys1082Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003065303]|not provided [RCV003130822] |
Chr16:15737497 [GRCh38]
Chr16:15831354 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5403C>T (p.Leu1801=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002632565] |
Chr16:15717241 [GRCh38]
Chr16:15811098 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5031G>C (p.Glu1677Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002966752] |
Chr16:15719636 [GRCh38]
Chr16:15813493 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5578G>T (p.Asp1860Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002791681] |
Chr16:15715199 [GRCh38]
Chr16:15809056 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1815C>T (p.Ser605=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002856369] |
Chr16:15753443 [GRCh38]
Chr16:15847300 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.890-9T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003010063] |
Chr16:15771721 [GRCh38]
Chr16:15865578 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.337C>T (p.Leu113=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002806920] |
Chr16:15837916 [GRCh38]
Chr16:15931773 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3894G>A (p.Glu1298=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002834017] |
Chr16:15724957 [GRCh38]
Chr16:15818814 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3652-7T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002627982] |
Chr16:15727061 [GRCh38]
Chr16:15820918 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1836C>A (p.Asp612Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003063401] |
Chr16:15753422 [GRCh38]
Chr16:15847279 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1599C>G (p.Ala533=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002877208] |
Chr16:15756491 [GRCh38]
Chr16:15850348 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.486C>T (p.Tyr162=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002899470] |
Chr16:15823271 [GRCh38]
Chr16:15917128 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3122-19A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002899287] |
Chr16:15737639 [GRCh38]
Chr16:15831496 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.493A>G (p.Met165Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002807131] |
Chr16:15823264 [GRCh38]
Chr16:15917121 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3048A>G (p.Ala1016=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003087711] |
Chr16:15738638 [GRCh38]
Chr16:15832495 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4575G>T (p.Lys1525Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002806923] |
Chr16:15721425 [GRCh38]
Chr16:15815282 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4365+7G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003062815] |
Chr16:15724154 [GRCh38]
Chr16:15818011 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3859-9C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002627415] |
Chr16:15725001 [GRCh38]
Chr16:15818858 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3638A>C (p.Glu1213Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002895462] |
Chr16:15732577 [GRCh38]
Chr16:15826434 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3840C>G (p.Asp1280Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002770842] |
Chr16:15726866 [GRCh38]
Chr16:15820723 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.503-13T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002627994] |
Chr16:15798700 [GRCh38]
Chr16:15892557 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1024G>T (p.Glu342Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003046579] |
Chr16:15771578 [GRCh38]
Chr16:15865435 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2594A>C (p.Lys865Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002811363] |
Chr16:15741818 [GRCh38]
Chr16:15835675 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4186A>G (p.Arg1396Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002715441] |
Chr16:15724340 [GRCh38]
Chr16:15818197 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2307C>T (p.Phe769=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002857493] |
Chr16:15747674 [GRCh38]
Chr16:15841531 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3205G>A (p.Glu1069Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002649798] |
Chr16:15737537 [GRCh38]
Chr16:15831394 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1130-20T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002580737] |
Chr16:15760678 [GRCh38]
Chr16:15854535 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5171+2T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003009596] |
Chr16:15719218 [GRCh38]
Chr16:15813075 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.981G>T (p.Gln327His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003047381] |
Chr16:15771621 [GRCh38]
Chr16:15865478 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2996A>G (p.Lys999Arg) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002937256] |
Chr16:15740052 [GRCh38]
Chr16:15833909 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.530+11_530+17dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV002631513] |
Chr16:15798642..15798643 [GRCh38]
Chr16:15892499..15892500 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5296-17T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002579255] |
Chr16:15717365 [GRCh38]
Chr16:15811222 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3719T>C (p.Leu1240Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003027410] |
Chr16:15726987 [GRCh38]
Chr16:15820844 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2442C>A (p.Thr814=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002966993] |
Chr16:15745207 [GRCh38]
Chr16:15839064 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3960C>T (p.Thr1320=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002632239] |
Chr16:15724891 [GRCh38]
Chr16:15818748 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.33G>A (p.Glu11=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002810760] |
Chr16:15838220 [GRCh38]
Chr16:15932077 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4546C>A (p.Leu1516Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002791676] |
Chr16:15721454 [GRCh38]
Chr16:15815311 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.74T>G (p.Val25Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003092578] |
Chr16:15838179 [GRCh38]
Chr16:15932036 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3859-7C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002582573]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528405] |
Chr16:15724999 [GRCh38]
Chr16:15818856 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.633+1897G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002584760] |
Chr16:15784733 [GRCh38]
Chr16:15878590 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2473G>A (p.Ala825Thr) |
single nucleotide variant |
not provided [RCV003129272] |
Chr16:15745176 [GRCh38]
Chr16:15839033 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5385G>A (p.Lys1795=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002586907] |
Chr16:15717259 [GRCh38]
Chr16:15811116 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2563C>A (p.Gln855Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003070680] |
Chr16:15741849 [GRCh38]
Chr16:15835706 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5172-20C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002607672] |
Chr16:15718458 [GRCh38]
Chr16:15812315 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1758T>C (p.Tyr586=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002588011] |
Chr16:15753500 [GRCh38]
Chr16:15847357 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.714C>A (p.Asn238Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002607797] |
Chr16:15782397 [GRCh38]
Chr16:15876254 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2997+13C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002606931] |
Chr16:15740038 [GRCh38]
Chr16:15833895 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.505C>A (p.Arg169=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003073340] |
Chr16:15798685 [GRCh38]
Chr16:15892542 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5083-4C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002588389] |
Chr16:15719312 [GRCh38]
Chr16:15813169 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3710C>G (p.Ala1237Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002607472]|not provided [RCV003327588] |
Chr16:15726996 [GRCh38]
Chr16:15820853 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5786+19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002588685]|not specified [RCV003479479] |
Chr16:15714890 [GRCh38]
Chr16:15808747 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2180+1G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002604703] |
Chr16:15748046 [GRCh38]
Chr16:15841903 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.2742G>T (p.Ala914=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002814825] |
Chr16:15741580 [GRCh38]
Chr16:15835437 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4437G>A (p.Arg1479=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002589269] |
Chr16:15721563 [GRCh38]
Chr16:15815420 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4215C>T (p.Thr1405=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002609972] |
Chr16:15724311 [GRCh38]
Chr16:15818168 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4953+7G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV002612101] |
Chr16:15720144 [GRCh38]
Chr16:15814001 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4954-5T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003068711] |
Chr16:15719718 [GRCh38]
Chr16:15813575 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4690C>T (p.Arg1564Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150690] |
Chr16:15720940 [GRCh38]
Chr16:15814797 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3931G>A (p.Ala1311Thr) |
single nucleotide variant |
not provided [RCV003132732] |
Chr16:15724920 [GRCh38]
Chr16:15818777 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3245A>C (p.Lys1082Thr) |
single nucleotide variant |
not provided [RCV003132735] |
Chr16:15737497 [GRCh38]
Chr16:15831354 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3643T>C (p.Phe1215Leu) |
single nucleotide variant |
not provided [RCV003131626] |
Chr16:15732572 [GRCh38]
Chr16:15826429 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4241_4242inv (p.Ala1414Glu) |
inversion |
not provided [RCV003132734] |
Chr16:15724284..15724285 [GRCh38]
Chr16:15818141..15818142 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4953+5G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150689] |
Chr16:15720146 [GRCh38]
Chr16:15814003 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.766A>G (p.Ile256Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003154856] |
Chr16:15778804 [GRCh38]
Chr16:15872661 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5723A>C (p.Asp1908Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629247]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150620] |
Chr16:15714972 [GRCh38]
Chr16:15808829 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3755A>T (p.His1252Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150621] |
Chr16:15726951 [GRCh38]
Chr16:15820808 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.225C>T (p.Asp75=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150622] |
Chr16:15838028 [GRCh38]
Chr16:15931885 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3089A>G (p.Asn1030Ser) |
single nucleotide variant |
not provided [RCV003131624] |
Chr16:15738597 [GRCh38]
Chr16:15832454 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3818G>T (p.Arg1273Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003296020] |
Chr16:15726888 [GRCh38]
Chr16:15820745 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2063G>A (p.Gly688Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003216295] |
Chr16:15748164 [GRCh38]
Chr16:15842021 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5398A>G (p.Lys1800Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003216447] |
Chr16:15717246 [GRCh38]
Chr16:15811103 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4263C>T (p.Thr1421=) |
single nucleotide variant |
not provided [RCV003222861] |
Chr16:15724263 [GRCh38]
Chr16:15818120 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.444C>G (p.His148Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168162] |
Chr16:15823313 [GRCh38]
Chr16:15917170 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4766A>G (p.Glu1589Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168163] |
Chr16:15720864 [GRCh38]
Chr16:15814721 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2283C>T (p.Tyr761=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629249]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168167] |
Chr16:15747698 [GRCh38]
Chr16:15841555 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.244C>T (p.Pro82Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168168] |
Chr16:15838009 [GRCh38]
Chr16:15931866 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3932C>A (p.Ala1311Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168169] |
Chr16:15724919 [GRCh38]
Chr16:15818776 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3914A>C (p.Lys1305Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168170] |
Chr16:15724937 [GRCh38]
Chr16:15818794 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3577C>G (p.Gln1193Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168171] |
Chr16:15732638 [GRCh38]
Chr16:15826495 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4819G>T (p.Asp1607Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514612]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168172]|not provided [RCV003235787] |
Chr16:15720285 [GRCh38]
Chr16:15814142 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NC_000016.10:g.14683149_16205174dup |
duplication |
not specified [RCV003225664] |
Chr16:14683149..16205174 [GRCh38]
Chr16:16p13.12-13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3586_3588del (p.Glu1196del) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176777] |
Chr16:15732627..15732629 [GRCh38]
Chr16:15826484..15826486 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1176C>T (p.Phe392=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176778] |
Chr16:15760612 [GRCh38]
Chr16:15854469 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3123G>T (p.Val1041=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176779] |
Chr16:15737619 [GRCh38]
Chr16:15831476 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3200T>G (p.Phe1067Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514611]|Familial thoracic aortic aneurysm and aortic dissection [RCV003176780] |
Chr16:15737542 [GRCh38]
Chr16:15831399 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2982C>T (p.Asn994=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176781] |
Chr16:15740066 [GRCh38]
Chr16:15833923 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4780C>T (p.Leu1594=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176782] |
Chr16:15720850 [GRCh38]
Chr16:15814707 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1659G>A (p.Leu553=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176784] |
Chr16:15756431 [GRCh38]
Chr16:15850288 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5030A>C (p.Glu1677Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003203097] |
Chr16:15719637 [GRCh38]
Chr16:15813494 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh38/hg38 16p13.11(chr16:14816348-16678513) |
copy number gain |
Anomalous pulmonary venous return [RCV003223578] |
Chr16:14816348..16678513 [GRCh38]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.136G>C (p.Glu46Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003196143] |
Chr16:15838117 [GRCh38]
Chr16:15931974 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5383A>G (p.Lys1795Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629254]|not provided [RCV003223900] |
Chr16:15717261 [GRCh38]
Chr16:15811118 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2155A>G (p.Ile719Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003779800]|not provided [RCV003223902] |
Chr16:15748072 [GRCh38]
Chr16:15841929 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1226A>C (p.Gln409Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168161] |
Chr16:15760562 [GRCh38]
Chr16:15854419 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5279G>A (p.Arg1760His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629248]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168164] |
Chr16:15718331 [GRCh38]
Chr16:15812188 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4367T>C (p.Leu1456Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168165] |
Chr16:15721633 [GRCh38]
Chr16:15815490 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1065G>T (p.Gln355His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176775] |
Chr16:15763860 [GRCh38]
Chr16:15857717 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1750G>A (p.Val584Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176776] |
Chr16:15753508 [GRCh38]
Chr16:15847365 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4301T>C (p.Val1434Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176785] |
Chr16:15724225 [GRCh38]
Chr16:15818082 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5471C>T (p.Ala1824Val) |
single nucleotide variant |
not provided [RCV003319841] |
Chr16:15717173 [GRCh38]
Chr16:15811030 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5824G>A (p.Glu1942Lys) |
single nucleotide variant |
not provided [RCV003321291] |
Chr16:15708825 [GRCh38]
Chr16:15802682 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1 |
copy number loss |
16p13.11 microdeletion syndrome [RCV003329551] |
Chr16:15489453..18321582 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| NM_002474.3(MYH11):c.2611G>T (p.Ala871Ser) |
single nucleotide variant |
not provided [RCV003325848] |
Chr16:15741801 [GRCh38]
Chr16:15835658 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3 |
copy number gain |
16p13.11 microduplication syndrome [RCV003329524] |
Chr16:15125542..16388672 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.5616A>C (p.Ala1872=) |
single nucleotide variant |
not provided [RCV003326935] |
Chr16:15715079 [GRCh38]
Chr16:15808936 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.611G>T (p.Gly204Val) |
single nucleotide variant |
not provided [RCV003329652] |
Chr16:15786652 [GRCh38]
Chr16:15880509 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1 |
copy number loss |
16p13.11 microdeletion syndrome [RCV003329546] |
Chr16:14853752..16666672 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_001040113.2(MYH11):c.*8+1G>A |
single nucleotide variant |
not provided [RCV003330027] |
Chr16:15708802 [GRCh38]
Chr16:15802659 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1709A>G (p.Lys570Arg) |
single nucleotide variant |
not provided [RCV003329812] |
Chr16:15756381 [GRCh38]
Chr16:15850238 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2491A>T (p.Asn831Tyr) |
single nucleotide variant |
not provided [RCV003329936] |
Chr16:15745158 [GRCh38]
Chr16:15839015 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1 |
copy number loss |
Autosomal recessive inherited pseudoxanthoma elasticum [RCV003329506] |
Chr16:15475455..16308356 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.34A>G (p.Lys12Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003340757] |
Chr16:15838219 [GRCh38]
Chr16:15932076 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5133G>A (p.Glu1711=) |
single nucleotide variant |
not specified [RCV003332034] |
Chr16:15719258 [GRCh38]
Chr16:15813115 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3349G>A (p.Glu1117Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380088] |
Chr16:15735523 [GRCh38]
Chr16:15829380 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4440G>C (p.Glu1480Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380084] |
Chr16:15721560 [GRCh38]
Chr16:15815417 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3745G>C (p.Glu1249Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380087] |
Chr16:15726961 [GRCh38]
Chr16:15820818 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4021C>A (p.Leu1341Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380083] |
Chr16:15724742 [GRCh38]
Chr16:15818599 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5676G>A (p.Glu1892=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380086] |
Chr16:15715019 [GRCh38]
Chr16:15808876 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4864C>T (p.Leu1622=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380085] |
Chr16:15720240 [GRCh38]
Chr16:15814097 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5102G>C (p.Arg1701Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380078] |
Chr16:15719289 [GRCh38]
Chr16:15813146 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2838G>A (p.Lys946=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380079] |
Chr16:15741484 [GRCh38]
Chr16:15835341 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4535A>T (p.Glu1512Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380080] |
Chr16:15721465 [GRCh38]
Chr16:15815322 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1040T>G (p.Leu347Trp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380081] |
Chr16:15763885 [GRCh38]
Chr16:15857742 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.259G>A (p.Val87Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380082] |
Chr16:15837994 [GRCh38]
Chr16:15931851 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5847A>C (p.Glu1949Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003352304] |
Chr16:15704063 [GRCh38]
Chr16:15797920 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3659C>T (p.Ala1220Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629271]|Familial thoracic aortic aneurysm and aortic dissection [RCV003385026] |
Chr16:15727047 [GRCh38]
Chr16:15820904 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2657C>G (p.Thr886Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003875451] |
Chr16:15741665 [GRCh38]
Chr16:15835522 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15481748-16391045)x1 |
copy number loss |
not provided [RCV003483279] |
Chr16:15481748..16391045 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3823C>G (p.Arg1275Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003874896] |
Chr16:15726883 [GRCh38]
Chr16:15820740 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3 |
copy number gain |
not provided [RCV003485099] |
Chr16:15058821..16837613 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15324776-16294705)x1 |
copy number loss |
not provided [RCV003483276] |
Chr16:15324776..16294705 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1 |
copy number loss |
not provided [RCV003483278] |
Chr16:15450290..16458408 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3071A>C (p.Asn1024Thr) |
single nucleotide variant |
not provided [RCV003480167] |
Chr16:15738615 [GRCh38]
Chr16:15832472 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3708G>C (p.Leu1236=) |
single nucleotide variant |
not provided [RCV003456921] |
Chr16:15726998 [GRCh38]
Chr16:15820855 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3 |
copy number gain |
not provided [RCV003456960] |
Chr16:15460510..16443142 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3 |
copy number gain |
not provided [RCV003485103] |
Chr16:15509592..16873547 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| NM_002474.3(MYH11):c.95C>G (p.Ala32Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003779192]|not specified [RCV003479718] |
Chr16:15838158 [GRCh38]
Chr16:15932015 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1 |
copy number loss |
not provided [RCV003483277] |
Chr16:15358446..16494783 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3 |
copy number gain |
not provided [RCV003485098] |
Chr16:15054346..16309165 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3 |
copy number gain |
not provided [RCV003485101] |
Chr16:15507899..16388359 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3 |
copy number gain |
not provided [RCV003485102] |
Chr16:15509407..18779589 [GRCh37]
Chr16:16p13.11-12.3 |
likely pathogenic |
| NM_002474.3(MYH11):c.5562C>G (p.Ile1854Met) |
single nucleotide variant |
not provided [RCV003456920] |
Chr16:15715215 [GRCh38]
Chr16:15809072 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3424C>T (p.Arg1142Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003388263]|Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 [RCV003984888] |
Chr16:15735448 [GRCh38]
Chr16:15829305 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.4312A>G (p.Asn1438Asp) |
single nucleotide variant |
MYH11-related condition [RCV003402236] |
Chr16:15724214 [GRCh38]
Chr16:15818071 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2498A>C (p.Gln833Pro) |
single nucleotide variant |
MYH11-related condition [RCV003410470] |
Chr16:15745151 [GRCh38]
Chr16:15839008 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4071G>A (p.Glu1357=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629275]|not provided [RCV003426604] |
Chr16:15724692 [GRCh38]
Chr16:15818549 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1 |
copy number loss |
not provided [RCV003419542] |
Chr16:14927709..16364041 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2685G>C (p.Gln895His) |
single nucleotide variant |
not provided [RCV003441372] |
Chr16:15741637 [GRCh38]
Chr16:15835494 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2412-7del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003513839] |
Chr16:15745244 [GRCh38]
Chr16:15839101 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.791-13C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515264] |
Chr16:15776189 [GRCh38]
Chr16:15870046 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5743G>A (p.Glu1915Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516489] |
Chr16:15714952 [GRCh38]
Chr16:15808809 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4965G>T (p.Lys1655Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630558] |
Chr16:15719702 [GRCh38]
Chr16:15813559 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1673G>A (p.Gly558Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630714] |
Chr16:15756417 [GRCh38]
Chr16:15850274 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1995G>C (p.Met665Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003513902] |
Chr16:15750201 [GRCh38]
Chr16:15844058 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2653-18C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516605] |
Chr16:15741687 [GRCh38]
Chr16:15835544 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3333G>A (p.Lys1111=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630820] |
Chr16:15735539 [GRCh38]
Chr16:15829396 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4051C>A (p.Gln1351Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630735] |
Chr16:15724712 [GRCh38]
Chr16:15818569 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2412-20T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630827] |
Chr16:15745257 [GRCh38]
Chr16:15839114 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5296-7T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629555] |
Chr16:15717355 [GRCh38]
Chr16:15811212 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3812G>C (p.Gly1271Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003513903] |
Chr16:15726894 [GRCh38]
Chr16:15820751 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2607G>A (p.Gln869=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630583] |
Chr16:15741805 [GRCh38]
Chr16:15835662 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4379A>G (p.Glu1460Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629713] |
Chr16:15721621 [GRCh38]
Chr16:15815478 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4792-13A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629777] |
Chr16:15720325 [GRCh38]
Chr16:15814182 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2998-14C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516571] |
Chr16:15738702 [GRCh38]
Chr16:15832559 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5261C>A (p.Ala1754Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515641] |
Chr16:15718349 [GRCh38]
Chr16:15812206 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.634-17A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630595] |
Chr16:15782494 [GRCh38]
Chr16:15876351 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.260T>C (p.Val87Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486454] |
Chr16:15837993 [GRCh38]
Chr16:15931850 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5598G>A (p.Glu1866=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629828] |
Chr16:15715179 [GRCh38]
Chr16:15809036 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3432C>G (p.Leu1144=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629860] |
Chr16:15735440 [GRCh38]
Chr16:15829297 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4740C>G (p.Leu1580=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515351] |
Chr16:15720890 [GRCh38]
Chr16:15814747 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5388G>A (p.Glu1796=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528105] |
Chr16:15717256 [GRCh38]
Chr16:15811113 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5206G>A (p.Ala1736Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528109] |
Chr16:15718404 [GRCh38]
Chr16:15812261 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.531-12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514034] |
Chr16:15786744 [GRCh38]
Chr16:15880601 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4610T>G (p.Leu1537Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528116] |
Chr16:15721020 [GRCh38]
Chr16:15814877 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4252C>T (p.Leu1418=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528124] |
Chr16:15724274 [GRCh38]
Chr16:15818131 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4210C>G (p.Leu1404Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528125] |
Chr16:15724316 [GRCh38]
Chr16:15818173 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3901G>A (p.Gly1301Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528131] |
Chr16:15724950 [GRCh38]
Chr16:15818807 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3888T>G (p.Leu1296=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528132] |
Chr16:15724963 [GRCh38]
Chr16:15818820 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1248+16T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630860] |
Chr16:15760524 [GRCh38]
Chr16:15854381 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1575+18G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629989] |
Chr16:15757809 [GRCh38]
Chr16:15851666 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.346-19C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630001] |
Chr16:15823430 [GRCh38]
Chr16:15917287 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4792-17CT[3] |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV003630011] |
Chr16:15720325..15720326 [GRCh38]
Chr16:15814182..15814183 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3017A>G (p.Glu1006Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630618] |
Chr16:15738669 [GRCh38]
Chr16:15832526 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2411+18C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630756] |
Chr16:15747552 [GRCh38]
Chr16:15841409 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.890-8C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630762] |
Chr16:15771720 [GRCh38]
Chr16:15865577 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1805A>G (p.Asn602Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630064] |
Chr16:15753453 [GRCh38]
Chr16:15847310 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.279G>C (p.Leu93=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630623] |
Chr16:15837974 [GRCh38]
Chr16:15931831 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+8T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630766] |
Chr16:15759568 [GRCh38]
Chr16:15853425 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1050A>G (p.Val350=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630879] |
Chr16:15763875 [GRCh38]
Chr16:15857732 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3858+18T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003881838] |
Chr16:15726830 [GRCh38]
Chr16:15820687 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5504+19C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515726] |
Chr16:15717121 [GRCh38]
Chr16:15810978 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5125G>C (p.Glu1709Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528110] |
Chr16:15719266 [GRCh38]
Chr16:15813123 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5083-4del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528111] |
Chr16:15719312 [GRCh38]
Chr16:15813169 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4499A>G (p.Glu1500Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528119] |
Chr16:15721501 [GRCh38]
Chr16:15815358 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4160T>G (p.Val1387Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528127] |
Chr16:15724366 [GRCh38]
Chr16:15818223 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4035G>C (p.Arg1345=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516014] |
Chr16:15724728 [GRCh38]
Chr16:15818585 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3427G>T (p.Asp1143Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528618] |
Chr16:15735445 [GRCh38]
Chr16:15829302 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2681A>G (p.Glu894Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528630] |
Chr16:15741641 [GRCh38]
Chr16:15835498 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1468_1470delinsT (p.Thr490fs) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528651] |
Chr16:15757932..15757934 [GRCh38]
Chr16:15851789..15851791 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4792-20C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630635] |
Chr16:15720332 [GRCh38]
Chr16:15814189 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3801G>A (p.Lys1267=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630637] |
Chr16:15726905 [GRCh38]
Chr16:15820762 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4116+13T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630638] |
Chr16:15724634 [GRCh38]
Chr16:15818491 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.582C>T (p.Tyr194=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003779324]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528668] |
Chr16:15786681 [GRCh38]
Chr16:15880538 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2058+12C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628809] |
Chr16:15750126 [GRCh38]
Chr16:15843983 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4791+16_4791+17delinsAG |
indel |
Aortic aneurysm, familial thoracic 4 [RCV003516145] |
Chr16:15720822..15720823 [GRCh38]
Chr16:15814679..15814680 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.270G>A (p.Met90Ile) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630639] |
Chr16:15837983 [GRCh38]
Chr16:15931840 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3243C>T (p.Leu1081=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630896] |
Chr16:15737499 [GRCh38]
Chr16:15831356 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3271G>A (p.Glu1091Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628879] |
Chr16:15737471 [GRCh38]
Chr16:15831328 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.849C>G (p.Ile283Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628932] |
Chr16:15776118 [GRCh38]
Chr16:15869975 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5041A>C (p.Lys1681Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514822] |
Chr16:15719626 [GRCh38]
Chr16:15813483 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5512C>A (p.Gln1838Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516236] |
Chr16:15715265 [GRCh38]
Chr16:15809122 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2998-2A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630910] |
Chr16:15738690 [GRCh38]
Chr16:15832547 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5083-18T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628974] |
Chr16:15719326 [GRCh38]
Chr16:15813183 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3660G>T (p.Ala1220=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628993] |
Chr16:15727046 [GRCh38]
Chr16:15820903 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2229G>A (p.Gly743=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629050] |
Chr16:15747895 [GRCh38]
Chr16:15841752 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2059-12T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516007] |
Chr16:15748180 [GRCh38]
Chr16:15842037 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2770C>T (p.Leu924=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528628] |
Chr16:15741552 [GRCh38]
Chr16:15835409 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2658C>G (p.Thr886=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528632] |
Chr16:15741664 [GRCh38]
Chr16:15835521 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2062G>C (p.Gly688Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528642] |
Chr16:15748165 [GRCh38]
Chr16:15842022 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.804A>C (p.Lys268Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528658] |
Chr16:15776163 [GRCh38]
Chr16:15870020 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.751G>A (p.Asp251Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528660] |
Chr16:15778819 [GRCh38]
Chr16:15872676 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5786+19G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516309] |
Chr16:15714890 [GRCh38]
Chr16:15808747 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4953+14G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628999] |
Chr16:15720137 [GRCh38]
Chr16:15813994 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.623C>A (p.Thr208Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528665] |
Chr16:15786640 [GRCh38]
Chr16:15880497 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.139G>T (p.Ala47Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528675] |
Chr16:15838114 [GRCh38]
Chr16:15931971 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1714A>G (p.Lys572Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528650] |
Chr16:15756376 [GRCh38]
Chr16:15850233 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1034-10C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630693] |
Chr16:15763901 [GRCh38]
Chr16:15857758 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2631G>A (p.Glu877=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630785] |
Chr16:15741781 [GRCh38]
Chr16:15835638 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5614-20C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516171] |
Chr16:15715101 [GRCh38]
Chr16:15808958 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.790+11C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515150] |
Chr16:15778769 [GRCh38]
Chr16:15872626 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1116del (p.Met372fs) |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003630676] |
Chr16:15763809 [GRCh38]
Chr16:15857666 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2998-6A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629423] |
Chr16:15738694 [GRCh38]
Chr16:15832551 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2180+12G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515170] |
Chr16:15748035 [GRCh38]
Chr16:15841892 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5355T>C (p.Ser1785=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516579] |
Chr16:15717289 [GRCh38]
Chr16:15811146 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2058+13G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630000] |
Chr16:15750125 [GRCh38]
Chr16:15843982 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.502+19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630518] |
Chr16:15823236 [GRCh38]
Chr16:15917093 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5124C>G (p.Leu1708=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516390] |
Chr16:15719267 [GRCh38]
Chr16:15813124 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4791+4C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003876689] |
Chr16:15720835 [GRCh38]
Chr16:15814692 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1847C>T (p.Ala616Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628695] |
Chr16:15753411 [GRCh38]
Chr16:15847268 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2958G>A (p.Glu986=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628697] |
Chr16:15740090 [GRCh38]
Chr16:15833947 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2430G>A (p.Gln810=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630080] |
Chr16:15745219 [GRCh38]
Chr16:15839076 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1671G>C (p.Gln557His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486453] |
Chr16:15756419 [GRCh38]
Chr16:15850276 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5143G>C (p.Glu1715Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003877638] |
Chr16:15719248 [GRCh38]
Chr16:15813105 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4117-20C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003513871] |
Chr16:15724429 [GRCh38]
Chr16:15818286 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2251-4G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516005] |
Chr16:15747734 [GRCh38]
Chr16:15841591 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2490G>T (p.Arg830=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516020] |
Chr16:15745159 [GRCh38]
Chr16:15839016 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3318G>A (p.Lys1106=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528619] |
Chr16:15735554 [GRCh38]
Chr16:15829411 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3232A>G (p.Ile1078Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528621] |
Chr16:15737510 [GRCh38]
Chr16:15831367 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3032T>C (p.Leu1011Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528622] |
Chr16:15738654 [GRCh38]
Chr16:15832511 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2991A>G (p.Leu997=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528624] |
Chr16:15740057 [GRCh38]
Chr16:15833914 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2731G>A (p.Val911Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629906] |
Chr16:15741591 [GRCh38]
Chr16:15835448 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.817C>G (p.Arg273Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515376] |
Chr16:15776150 [GRCh38]
Chr16:15870007 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2919G>A (p.Lys973=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528626] |
Chr16:15740129 [GRCh38]
Chr16:15833986 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2709T>C (p.Tyr903=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528629] |
Chr16:15741613 [GRCh38]
Chr16:15835470 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2667_2668delinsCC (p.Lys889_Asn890delinsAsnHis) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528631] |
Chr16:15741654..15741655 [GRCh38]
Chr16:15835511..15835512 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2577T>C (p.Asp859=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528633] |
Chr16:15741835 [GRCh38]
Chr16:15835692 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2566G>A (p.Ala856Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528634] |
Chr16:15741846 [GRCh38]
Chr16:15835703 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2412-8del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528637] |
Chr16:15745245 [GRCh38]
Chr16:15839102 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2266C>T (p.Leu756Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528639] |
Chr16:15747715 [GRCh38]
Chr16:15841572 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2082G>C (p.Leu694=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528640] |
Chr16:15748145 [GRCh38]
Chr16:15842002 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2063G>C (p.Gly688Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528641] |
Chr16:15748164 [GRCh38]
Chr16:15842021 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1898A>G (p.Lys633Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528645] |
Chr16:15750298 [GRCh38]
Chr16:15844155 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1864G>A (p.Val622Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528648] |
Chr16:15753394 [GRCh38]
Chr16:15847251 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1750-15G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528649] |
Chr16:15753523 [GRCh38]
Chr16:15847380 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.964_969delinsCA (p.Asp322fs) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528655] |
Chr16:15771633..15771638 [GRCh38]
Chr16:15865490..15865495 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.854A>G (p.Tyr285Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528657] |
Chr16:15776113 [GRCh38]
Chr16:15869970 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.633+1905A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528664] |
Chr16:15784725 [GRCh38]
Chr16:15878582 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.535G>A (p.Glu179Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528669] |
Chr16:15786728 [GRCh38]
Chr16:15880585 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.981G>C (p.Gln327His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514940] |
Chr16:15771621 [GRCh38]
Chr16:15865478 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.634-15G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003779323]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528662] |
Chr16:15782492 [GRCh38]
Chr16:15876349 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2466C>A (p.Asn822Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628793] |
Chr16:15745183 [GRCh38]
Chr16:15839040 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5192A>C (p.Lys1731Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515466] |
Chr16:15718418 [GRCh38]
Chr16:15812275 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4679A>G (p.Asp1560Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515429] |
Chr16:15720951 [GRCh38]
Chr16:15814808 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.463T>G (p.Tyr155Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528671] |
Chr16:15823294 [GRCh38]
Chr16:15917151 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.91GCC[1] (p.Ala32del) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528677] |
Chr16:15838157..15838159 [GRCh38]
Chr16:15932014..15932016 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5374C>A (p.Arg1792=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515998]|Familial thoracic aortic aneurysm and aortic dissection [RCV003527925] |
Chr16:15717270 [GRCh38]
Chr16:15811127 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2304C>A (p.Ile768=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629647] |
Chr16:15747677 [GRCh38]
Chr16:15841534 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.889+16T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514066] |
Chr16:15776062 [GRCh38]
Chr16:15869919 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4061A>T (p.Glu1354Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514787] |
Chr16:15724702 [GRCh38]
Chr16:15818559 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3741G>C (p.Lys1247Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528615] |
Chr16:15726965 [GRCh38]
Chr16:15820822 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4251A>T (p.Lys1417Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515686] |
Chr16:15724275 [GRCh38]
Chr16:15818132 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.5832G>C (p.Ser1944=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515720] |
Chr16:15708817 [GRCh38]
Chr16:15802674 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5642A>G (p.Gln1881Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528100] |
Chr16:15715053 [GRCh38]
Chr16:15808910 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5578G>A (p.Asp1860Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528101] |
Chr16:15715199 [GRCh38]
Chr16:15809056 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5353_5355delinsTGC (p.Ser1785Cys) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528106] |
Chr16:15717289..15717291 [GRCh38]
Chr16:15811146..15811148 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4782G>C (p.Leu1594=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528115] |
Chr16:15720848 [GRCh38]
Chr16:15814705 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2415T>C (p.Ala805=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629667] |
Chr16:15745234 [GRCh38]
Chr16:15839091 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3121+20A>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629669] |
Chr16:15738545 [GRCh38]
Chr16:15832402 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3687_3688delinsTC (p.Glu1230Gln) |
indel |
Aortic aneurysm, familial thoracic 4 [RCV003629678] |
Chr16:15727018..15727019 [GRCh38]
Chr16:15820875..15820876 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5786+17C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514101] |
Chr16:15714892 [GRCh38]
Chr16:15808749 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1129+20G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514108] |
Chr16:15763776 [GRCh38]
Chr16:15857633 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3313C>T (p.Gln1105Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515547] |
Chr16:15735559 [GRCh38]
Chr16:15829416 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.1044G>A (p.Lys348=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628930] |
Chr16:15763881 [GRCh38]
Chr16:15857738 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4954-11G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628949] |
Chr16:15719724 [GRCh38]
Chr16:15813581 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.890-20C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629700] |
Chr16:15771732 [GRCh38]
Chr16:15865589 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4579-24_4579-16dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV003629708] |
Chr16:15721066..15721067 [GRCh38]
Chr16:15814923..15814924 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.727-20C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516444] |
Chr16:15778863 [GRCh38]
Chr16:15872720 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1899G>T (p.Lys633Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516455] |
Chr16:15750297 [GRCh38]
Chr16:15844154 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.882G>C (p.Lys294Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628991] |
Chr16:15776085 [GRCh38]
Chr16:15869942 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5082+16G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629753] |
Chr16:15719569 [GRCh38]
Chr16:15813426 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3507-17G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514157] |
Chr16:15732725 [GRCh38]
Chr16:15826582 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5400G>T (p.Lys1800Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514930] |
Chr16:15717244 [GRCh38]
Chr16:15811101 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2571G>A (p.Lys857=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516219] |
Chr16:15741841 [GRCh38]
Chr16:15835698 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1743_1744inv (p.Gly582Arg) |
inversion |
Aortic aneurysm, familial thoracic 4 [RCV003880661] |
Chr16:15756346..15756347 [GRCh38]
Chr16:15850203..15850204 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3444G>A (p.Leu1148=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516226] |
Chr16:15735428 [GRCh38]
Chr16:15829285 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4283A>G (p.Glu1428Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516504] |
Chr16:15724243 [GRCh38]
Chr16:15818100 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5613+18G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629086] |
Chr16:15715146 [GRCh38]
Chr16:15809003 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4116+11C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629739] |
Chr16:15724636 [GRCh38]
Chr16:15818493 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1309C>T (p.Leu437Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630379] |
Chr16:15759668 [GRCh38]
Chr16:15853525 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.549G>C (p.Gly183=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630380] |
Chr16:15786714 [GRCh38]
Chr16:15880571 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1033+14C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514222] |
Chr16:15771555 [GRCh38]
Chr16:15865412 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2520+9T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630400] |
Chr16:15745120 [GRCh38]
Chr16:15838977 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5787-4683C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528095] |
Chr16:15708806 [GRCh38]
Chr16:15802663 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5691C>A (p.Asn1897Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528097] |
Chr16:15715004 [GRCh38]
Chr16:15808861 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4953+17G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515741] |
Chr16:15720134 [GRCh38]
Chr16:15813991 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5296-10_5296-9del |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528107] |
Chr16:15717357..15717358 [GRCh38]
Chr16:15811214..15811215 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5275G>C (p.Val1759Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528108] |
Chr16:15718335 [GRCh38]
Chr16:15812192 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4518C>G (p.Asn1506Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528118] |
Chr16:15721482 [GRCh38]
Chr16:15815339 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3908C>A (p.Ala1303Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528130] |
Chr16:15724943 [GRCh38]
Chr16:15818800 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3859-15T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528133] |
Chr16:15725007 [GRCh38]
Chr16:15818864 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5428T>C (p.Ser1810Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629289]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528104] |
Chr16:15717216 [GRCh38]
Chr16:15811073 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3507-6A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629291]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528616] |
Chr16:15732714 [GRCh38]
Chr16:15826571 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4791+14G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629891] |
Chr16:15720825 [GRCh38]
Chr16:15814682 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3747G>A (p.Glu1249=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630415] |
Chr16:15726959 [GRCh38]
Chr16:15820816 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2203G>A (p.Ala735Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516548] |
Chr16:15747921 [GRCh38]
Chr16:15841778 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5013C>A (p.Ile1671=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515815] |
Chr16:15719654 [GRCh38]
Chr16:15813511 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1033+19G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629368] |
Chr16:15771550 [GRCh38]
Chr16:15865407 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1401+9C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630498] |
Chr16:15759567 [GRCh38]
Chr16:15853424 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5171+16_5171+19del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003629043] |
Chr16:15719201..15719204 [GRCh38]
Chr16:15813058..15813061 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1576-5C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515225] |
Chr16:15756519 [GRCh38]
Chr16:15850376 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4578+6T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629811] |
Chr16:15721416 [GRCh38]
Chr16:15815273 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.345+18C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629824] |
Chr16:15837890 [GRCh38]
Chr16:15931747 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4448C>A (p.Thr1483Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630374] |
Chr16:15721552 [GRCh38]
Chr16:15815409 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3507G>C (p.Arg1169Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515350] |
Chr16:15732708 [GRCh38]
Chr16:15826565 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2670C>A (p.Asn890Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515814] |
Chr16:15741652 [GRCh38]
Chr16:15835509 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3428A>T (p.Asp1143Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516274] |
Chr16:15735444 [GRCh38]
Chr16:15829301 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4116+14del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003629867] |
Chr16:15724633 [GRCh38]
Chr16:15818490 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5314G>C (p.Glu1772Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629871] |
Chr16:15717330 [GRCh38]
Chr16:15811187 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5214C>A (p.Ile1738=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630407] |
Chr16:15718396 [GRCh38]
Chr16:15812253 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3739A>G (p.Lys1247Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515861] |
Chr16:15726967 [GRCh38]
Chr16:15820824 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2088G>A (p.Leu696=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629297] |
Chr16:15748139 [GRCh38]
Chr16:15841996 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1033T>C (p.Ser345Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629908] |
Chr16:15771569 [GRCh38]
Chr16:15865426 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4366-18C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514886] |
Chr16:15721652 [GRCh38]
Chr16:15815509 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2715G>C (p.Glu905Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514881] |
Chr16:15741607 [GRCh38]
Chr16:15835464 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5101_5102del (p.Arg1701fs) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV003629324] |
Chr16:15719289..15719290 [GRCh38]
Chr16:15813146..15813147 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2059-19C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629918] |
Chr16:15748187 [GRCh38]
Chr16:15842044 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3124C>A (p.Arg1042=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629921] |
Chr16:15737618 [GRCh38]
Chr16:15831475 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_001040113.2(MYH11):c.5815C>T (p.Pro1939Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515431] |
Chr16:15708834 [GRCh38]
Chr16:15802691 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1932G>A (p.Lys644=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514990] |
Chr16:15750264 [GRCh38]
Chr16:15844121 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5562C>A (p.Ile1854=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629402] |
Chr16:15715215 [GRCh38]
Chr16:15809072 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.414C>T (p.Ile138=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516451] |
Chr16:15823343 [GRCh38]
Chr16:15917200 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5591T>C (p.Met1864Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515509] |
Chr16:15715186 [GRCh38]
Chr16:15809043 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3092A>T (p.Lys1031Met) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516003] |
Chr16:15738594 [GRCh38]
Chr16:15832451 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2080C>G (p.Leu694Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516454] |
Chr16:15748147 [GRCh38]
Chr16:15842004 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1713C>T (p.Asp571=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630057] |
Chr16:15756377 [GRCh38]
Chr16:15850234 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3451C>A (p.Leu1151Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528617] |
Chr16:15735421 [GRCh38]
Chr16:15829278 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3026G>C (p.Ser1009Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528623] |
Chr16:15738660 [GRCh38]
Chr16:15832517 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2973T>C (p.Asp991=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528625] |
Chr16:15740075 [GRCh38]
Chr16:15833932 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5171+7A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516037] |
Chr16:15719213 [GRCh38]
Chr16:15813070 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2774A>G (p.His925Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528627] |
Chr16:15741548 [GRCh38]
Chr16:15835405 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3561G>T (p.Thr1187=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003830334] |
Chr16:15732654 [GRCh38]
Chr16:15826511 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3859-17T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629507] |
Chr16:15725009 [GRCh38]
Chr16:15818866 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.890-12C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629508] |
Chr16:15771724 [GRCh38]
Chr16:15865581 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5296-17_5340dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV003515578] |
Chr16:15717303..15717304 [GRCh38]
Chr16:15811160..15811161 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2521-12G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528635] |
Chr16:15741903 [GRCh38]
Chr16:15835760 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2365G>A (p.Val789Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528638] |
Chr16:15747616 [GRCh38]
Chr16:15841473 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2006G>A (p.Arg669His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528643] |
Chr16:15750190 [GRCh38]
Chr16:15844047 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1952G>A (p.Arg651His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528644] |
Chr16:15750244 [GRCh38]
Chr16:15844101 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1896C>T (p.Ala632=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528646] |
Chr16:15750300 [GRCh38]
Chr16:15844157 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1875C>A (p.Ile625=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528647] |
Chr16:15750321 [GRCh38]
Chr16:15844178 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1130-12T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528652] |
Chr16:15760670 [GRCh38]
Chr16:15854527 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1059C>T (p.Val353=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528653] |
Chr16:15763866 [GRCh38]
Chr16:15857723 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1057G>T (p.Val353Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528654] |
Chr16:15763868 [GRCh38]
Chr16:15857725 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.907G>A (p.Gly303Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528656] |
Chr16:15771695 [GRCh38]
Chr16:15865552 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.798A>G (p.Leu266=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528659] |
Chr16:15776169 [GRCh38]
Chr16:15870026 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.727-8G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528661] |
Chr16:15778851 [GRCh38]
Chr16:15872708 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_001040113.2(MYH11):c.644C>T (p.Ser215Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528663] |
Chr16:15784708 [GRCh38]
Chr16:15878565 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.604C>T (p.His202Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528666] |
Chr16:15786659 [GRCh38]
Chr16:15880516 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.595G>T (p.Ala199Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528667] |
Chr16:15786668 [GRCh38]
Chr16:15880525 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.531-13C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528670] |
Chr16:15786745 [GRCh38]
Chr16:15880602 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.429G>T (p.Lys143Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528672] |
Chr16:15823328 [GRCh38]
Chr16:15917185 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5296-15C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516499] |
Chr16:15717363 [GRCh38]
Chr16:15811220 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.920A>G (p.Tyr307Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516425] |
Chr16:15771682 [GRCh38]
Chr16:15865539 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4914G>T (p.Lys1638Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629542] |
Chr16:15720190 [GRCh38]
Chr16:15814047 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4421C>T (p.Ala1474Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630139] |
Chr16:15721579 [GRCh38]
Chr16:15815436 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.908G>A (p.Gly303Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515143] |
Chr16:15771694 [GRCh38]
Chr16:15865551 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3225G>C (p.Gln1075His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003829577] |
Chr16:15737517 [GRCh38]
Chr16:15831374 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.168T>G (p.Asp56Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528673] |
Chr16:15838085 [GRCh38]
Chr16:15931942 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.154G>C (p.Glu52Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528674] |
Chr16:15838099 [GRCh38]
Chr16:15931956 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.121G>A (p.Glu41Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528676] |
Chr16:15838132 [GRCh38]
Chr16:15931989 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.72A>C (p.Pro24=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528678] |
Chr16:15838181 [GRCh38]
Chr16:15932038 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.28G>A (p.Asp10Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528679] |
Chr16:15838225 [GRCh38]
Chr16:15932082 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.105C>A (p.Leu35=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628796] |
Chr16:15838148 [GRCh38]
Chr16:15932005 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5171+16G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629591] |
Chr16:15719204 [GRCh38]
Chr16:15813061 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.800A>G (p.Glu267Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514737] |
Chr16:15776167 [GRCh38]
Chr16:15870024 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3670A>G (p.Lys1224Glu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003828037] |
Chr16:15727036 [GRCh38]
Chr16:15820893 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4174G>C (p.Glu1392Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003513805] |
Chr16:15724352 [GRCh38]
Chr16:15818209 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4150G>C (p.Ala1384Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515199]|Familial thoracic aortic aneurysm and aortic dissection [RCV003527747] |
Chr16:15724376 [GRCh38]
Chr16:15818233 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1110G>A (p.Ala370=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516566]|Familial thoracic aortic aneurysm and aortic dissection [RCV003529604] |
Chr16:15763815 [GRCh38]
Chr16:15857672 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3315GAA[1] (p.Lys1106del) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV003779322]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528620] |
Chr16:15735552..15735554 [GRCh38]
Chr16:15829409..15829411 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2521-11TG[3] |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV003628905] |
Chr16:15741895..15741896 [GRCh38]
Chr16:15835752..15835753 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4557C>T (p.Ser1519=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629562] |
Chr16:15721443 [GRCh38]
Chr16:15815300 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1485G>A (p.Glu495=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003824746] |
Chr16:15757917 [GRCh38]
Chr16:15851774 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5504+11G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003515697] |
Chr16:15717129 [GRCh38]
Chr16:15810986 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2411+20T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516567] |
Chr16:15747550 [GRCh38]
Chr16:15841407 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5172-15C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003516586] |
Chr16:15718453 [GRCh38]
Chr16:15812310 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.790+20G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629690] |
Chr16:15778760 [GRCh38]
Chr16:15872617 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.136G>A (p.Glu46Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629707] |
Chr16:15838117 [GRCh38]
Chr16:15931974 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3122-16dup |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV003515714] |
Chr16:15737635..15737636 [GRCh38]
Chr16:15831492..15831493 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5718G>A (p.Glu1906=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528096] |
Chr16:15714977 [GRCh38]
Chr16:15808834 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5613+19C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514078] |
Chr16:15715145 [GRCh38]
Chr16:15809002 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4953+11C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629757] |
Chr16:15720140 [GRCh38]
Chr16:15813997 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3271_3272delinsTT (p.Glu1091Leu) |
indel |
Aortic aneurysm, familial thoracic 4 [RCV003629764] |
Chr16:15737470..15737471 [GRCh38]
Chr16:15831327..15831328 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.369G>A (p.Val123=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003828854] |
Chr16:15823388 [GRCh38]
Chr16:15917245 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5656_5668del (p.Leu1886fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528099] |
Chr16:15715027..15715039 [GRCh38]
Chr16:15808884..15808896 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5055G>A (p.Leu1685=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528112] |
Chr16:15719612 [GRCh38]
Chr16:15813469 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5002A>T (p.Arg1668Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528113] |
Chr16:15719665 [GRCh38]
Chr16:15813522 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4915G>A (p.Gly1639Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528114] |
Chr16:15720189 [GRCh38]
Chr16:15814046 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4540G>A (p.Glu1514Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528117] |
Chr16:15721460 [GRCh38]
Chr16:15815317 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4431A>T (p.Glu1477Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528121] |
Chr16:15721569 [GRCh38]
Chr16:15815426 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4416C>T (p.Asp1472=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528122] |
Chr16:15721584 [GRCh38]
Chr16:15815441 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4163A>T (p.Glu1388Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528126] |
Chr16:15724363 [GRCh38]
Chr16:15818220 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4117-7C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528128] |
Chr16:15724416 [GRCh38]
Chr16:15818273 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4048G>C (p.Asp1350His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528129] |
Chr16:15724715 [GRCh38]
Chr16:15818572 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3839A>C (p.Asp1280Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003528134] |
Chr16:15726867 [GRCh38]
Chr16:15820724 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.461T>G (p.Ile154Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486455] |
Chr16:15823296 [GRCh38]
Chr16:15917153 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.633+18A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629684] |
Chr16:15786612 [GRCh38]
Chr16:15880469 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.530+15T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629800] |
Chr16:15798645 [GRCh38]
Chr16:15892502 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2556G>A (p.Glu852=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628828] |
Chr16:15741856 [GRCh38]
Chr16:15835713 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5399A>C (p.Lys1800Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629597] |
Chr16:15717245 [GRCh38]
Chr16:15811102 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3858+15C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629600] |
Chr16:15726833 [GRCh38]
Chr16:15820690 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4953+19T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629866] |
Chr16:15720132 [GRCh38]
Chr16:15813989 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2059T>G (p.Ser687Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628880] |
Chr16:15748168 [GRCh38]
Chr16:15842025 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5083-4C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629663] |
Chr16:15719312 [GRCh38]
Chr16:15813169 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5452_5453delinsTT (p.Ala1818Leu) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486456] |
Chr16:15717191..15717192 [GRCh38]
Chr16:15811048..15811049 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.633+1894T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628895] |
Chr16:15784736 [GRCh38]
Chr16:15878593 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2258C>T (p.Ala753Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628912] |
Chr16:15747723 [GRCh38]
Chr16:15841580 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630293] |
Chr16:15724211 [GRCh38]
Chr16:15818068 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.2489G>A (p.Arg830Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630298] |
Chr16:15745160 [GRCh38]
Chr16:15839017 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4578+17G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628935] |
Chr16:15721405 [GRCh38]
Chr16:15815262 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4527C>G (p.Leu1509=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629744] |
Chr16:15721473 [GRCh38]
Chr16:15815330 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3293+9del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003827693] |
Chr16:15737440 [GRCh38]
Chr16:15831297 [GRCh37]
Chr16:16p13.11 |
benign |
| NM_002474.3(MYH11):c.5102G>A (p.Arg1701Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003513860] |
Chr16:15719289 [GRCh38]
Chr16:15813146 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5171+11G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629022] |
Chr16:15719209 [GRCh38]
Chr16:15813066 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.345+4A>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629772] |
Chr16:15837904 [GRCh38]
Chr16:15931761 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.626G>A (p.Ser209Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628706] |
Chr16:15786637 [GRCh38]
Chr16:15880494 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1060C>T (p.Leu354=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628763] |
Chr16:15763865 [GRCh38]
Chr16:15857722 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.153G>A (p.Lys51=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629996] |
Chr16:15838100 [GRCh38]
Chr16:15931957 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1712A>G (p.Asp571Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630348] |
Chr16:15756378 [GRCh38]
Chr16:15850235 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4179dup (p.Lys1394fs) |
duplication |
Aortic aneurysm, familial thoracic 4 [RCV003514177] |
Chr16:15724346..15724347 [GRCh38]
Chr16:15818203..15818204 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_017668.3(NDE1):c.956C>G (p.Thr319Arg) |
single nucleotide variant |
not provided [RCV003488118] |
Chr16:15724199 [GRCh38]
Chr16:15818056 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5674G>A (p.Glu1892Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003779319]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528098] |
Chr16:15715021 [GRCh38]
Chr16:15808878 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4465G>A (p.Ala1489Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003779321]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528120] |
Chr16:15721535 [GRCh38]
Chr16:15815392 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1401+19C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003513947] |
Chr16:15759557 [GRCh38]
Chr16:15853414 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5320G>A (p.Ala1774Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629838] |
Chr16:15717324 [GRCh38]
Chr16:15811181 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5461G>A (p.Ala1821Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629737] |
Chr16:15717183 [GRCh38]
Chr16:15811040 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1865-4A>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629852] |
Chr16:15750335 [GRCh38]
Chr16:15844192 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4791+11C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628947] |
Chr16:15720828 [GRCh38]
Chr16:15814685 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3506+16A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630032] |
Chr16:15735350 [GRCh38]
Chr16:15829207 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4733G>A (p.Arg1578Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630044] |
Chr16:15720897 [GRCh38]
Chr16:15814754 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5142A>G (p.Ala1714=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630381] |
Chr16:15719249 [GRCh38]
Chr16:15813106 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1249-14G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629883] |
Chr16:15759742 [GRCh38]
Chr16:15853599 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.129G>A (p.Gln43=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629056] |
Chr16:15838124 [GRCh38]
Chr16:15931981 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3093G>A (p.Lys1031=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630059] |
Chr16:15738593 [GRCh38]
Chr16:15832450 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4117-13G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630062] |
Chr16:15724422 [GRCh38]
Chr16:15818279 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5499G>A (p.Glu1833=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629287]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528102] |
Chr16:15717145 [GRCh38]
Chr16:15811002 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5482G>A (p.Glu1828Lys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629288]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528103] |
Chr16:15717162 [GRCh38]
Chr16:15811019 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2470G>A (p.Ala824Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629292]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528636] |
Chr16:15745179 [GRCh38]
Chr16:15839036 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2240G>C (p.Cys747Ser) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629303] |
Chr16:15747884 [GRCh38]
Chr16:15841741 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3311C>G (p.Ala1104Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630070] |
Chr16:15735561 [GRCh38]
Chr16:15829418 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2029C>T (p.Arg677Cys) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630072] |
Chr16:15750167 [GRCh38]
Chr16:15844024 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4691G>T (p.Arg1564Leu) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630431] |
Chr16:15720939 [GRCh38]
Chr16:15814796 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4745C>A (p.Ala1582Asp) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630442] |
Chr16:15720885 [GRCh38]
Chr16:15814742 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5061A>C (p.Ala1687=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629325] |
Chr16:15719606 [GRCh38]
Chr16:15813463 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4366-10T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629290]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528123] |
Chr16:15721644 [GRCh38]
Chr16:15815501 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191) |
copy number loss |
Autism spectrum disorder [RCV003883423] |
Chr16:15184811..18708191 [GRCh38]
Chr16:16p13.11-12.3 |
pathogenic |
| GRCh38/hg38 16p13.11(chr16:15399656-16194269) |
copy number loss |
Autism spectrum disorder [RCV003883417] |
Chr16:15399656..16194269 [GRCh38]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.3090C>T (p.Asn1030=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514282] |
Chr16:15738596 [GRCh38]
Chr16:15832453 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1248+19C>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003826274] |
Chr16:15760521 [GRCh38]
Chr16:15854378 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5295+17C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003875982] |
Chr16:15718298 [GRCh38]
Chr16:15812155 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2086C>T (p.Leu696=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630125] |
Chr16:15748141 [GRCh38]
Chr16:15841998 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.343T>C (p.Tyr115His) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514114] |
Chr16:15837910 [GRCh38]
Chr16:15931767 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5495AGG[1] (p.Glu1833del) |
microsatellite |
Aortic aneurysm, familial thoracic 4 [RCV003629443] |
Chr16:15717144..15717146 [GRCh38]
Chr16:15811001..15811003 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5171+3A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514138] |
Chr16:15719217 [GRCh38]
Chr16:15813074 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5614-5G>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629453] |
Chr16:15715086 [GRCh38]
Chr16:15808943 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5635G>T (p.Val1879Phe) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630526] |
Chr16:15715060 [GRCh38]
Chr16:15808917 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5323A>G (p.Thr1775Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630532] |
Chr16:15717321 [GRCh38]
Chr16:15811178 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1130-11T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003514024] |
Chr16:15760669 [GRCh38]
Chr16:15854526 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1330C>T (p.Leu444=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003628616] |
Chr16:15759647 [GRCh38]
Chr16:15853504 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.513C>T (p.Asp171=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003629379] |
Chr16:15798677 [GRCh38]
Chr16:15892534 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4390T>G (p.Ser1464Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630164] |
Chr16:15721610 [GRCh38]
Chr16:15815467 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4506C>G (p.Leu1502=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003812051] |
Chr16:15721494 [GRCh38]
Chr16:15815351 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5215G>C (p.Ala1739Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003630990] |
Chr16:15718395 [GRCh38]
Chr16:15812252 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3121+6C>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003852499] |
Chr16:15738559 [GRCh38]
Chr16:15832416 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4953+17G>A |
single nucleotide variant |
not provided [RCV003740563] |
Chr16:15720134 [GRCh38]
Chr16:15813991 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4104T>A (p.Thr1368=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003833008] |
Chr16:15724659 [GRCh38]
Chr16:15818516 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.36G>T (p.Lys12Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003851990]|MYH11-related condition [RCV003893519] |
Chr16:15838217 [GRCh38]
Chr16:15932074 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1365G>A (p.Leu455=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003832608] |
Chr16:15759612 [GRCh38]
Chr16:15853469 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5700C>T (p.Arg1900=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003817468] |
Chr16:15714995 [GRCh38]
Chr16:15808852 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.5385G>C (p.Lys1795Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003836228] |
Chr16:15717259 [GRCh38]
Chr16:15811116 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4469G>A (p.Arg1490Gln) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003816923] |
Chr16:15721531 [GRCh38]
Chr16:15815388 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4799A>G (p.Glu1600Gly) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003837644] |
Chr16:15720305 [GRCh38]
Chr16:15814162 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2998-13T>C |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003631015] |
Chr16:15738701 [GRCh38]
Chr16:15832558 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3651+3_3651+15del |
deletion |
Aortic aneurysm, familial thoracic 4 [RCV003815007] |
Chr16:15732549..15732561 [GRCh38]
Chr16:15826406..15826418 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3506+15A>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003814363] |
Chr16:15735351 [GRCh38]
Chr16:15829208 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2859+9T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003631004] |
Chr16:15741454 [GRCh38]
Chr16:15835311 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3963+1G>T |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003631007] |
Chr16:15724887 [GRCh38]
Chr16:15818744 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.1402-4T>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003631083] |
Chr16:15758004 [GRCh38]
Chr16:15851861 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2652+15G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003631014] |
Chr16:15741745 [GRCh38]
Chr16:15835602 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4020G>A (p.Gln1340=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003837807] |
Chr16:15724743 [GRCh38]
Chr16:15818600 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4324C>G (p.Leu1442Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003836016] |
Chr16:15724202 [GRCh38]
Chr16:15818059 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5280C>A (p.Arg1760=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003832250] |
Chr16:15718330 [GRCh38]
Chr16:15812187 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1537C>T (p.Leu513=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003819430] |
Chr16:15757865 [GRCh38]
Chr16:15851722 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2387T>C (p.Met796Thr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003821016] |
Chr16:15747594 [GRCh38]
Chr16:15841451 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.674T>C (p.Leu225Pro) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003862115] |
Chr16:15782437 [GRCh38]
Chr16:15876294 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.790+18C>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003823562] |
Chr16:15778762 [GRCh38]
Chr16:15872619 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1249-7_1249-6insCCCTGGTTC |
insertion |
Aortic aneurysm, familial thoracic 4 [RCV003848158] |
Chr16:15759734..15759735 [GRCh38]
Chr16:15853591..15853592 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1221G>A (p.Val407=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003821970] |
Chr16:15760567 [GRCh38]
Chr16:15854424 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1865-11G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003843943] |
Chr16:15750342 [GRCh38]
Chr16:15844199 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2728C>A (p.Arg910=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003822343] |
Chr16:15741594 [GRCh38]
Chr16:15835451 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1112C>A (p.Ser371Tyr) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003870367] |
Chr16:15763813 [GRCh38]
Chr16:15857670 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.5296-20G>A |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003870717] |
Chr16:15717368 [GRCh38]
Chr16:15811225 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.633+12T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003856834] |
Chr16:15786618 [GRCh38]
Chr16:15880475 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15516148-16289059)x3 |
copy number gain |
not specified [RCV003986318] |
Chr16:15516148..16289059 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|low penetrance |
| NM_002474.3(MYH11):c.4202T>A (p.Ile1401Asn) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003853865] |
Chr16:15724324 [GRCh38]
Chr16:15818181 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.4845A>G (p.Ala1615=) |
single nucleotide variant |
not provided [RCV003736505] |
Chr16:15720259 [GRCh38]
Chr16:15814116 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.469A>G (p.Ile157Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003870378] |
Chr16:15823288 [GRCh38]
Chr16:15917145 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3612G>T (p.Ala1204=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003867008] |
Chr16:15732603 [GRCh38]
Chr16:15826460 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3 |
copy number gain |
not specified [RCV003986319] |
Chr16:15126890..16289059 [GRCh37]
Chr16:16p13.11 |
likely pathogenic|low penetrance |
| GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3 |
copy number gain |
not specified [RCV003987171] |
Chr16:14892713..16544419 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3 |
copy number gain |
not specified [RCV003987137] |
Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:15869293-15907589)x1 |
copy number loss |
not specified [RCV003987142] |
Chr16:15869293..15907589 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3 |
copy number gain |
not specified [RCV003987147] |
Chr16:14892880..16494783 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 |
copy number gain |
not specified [RCV003987170] |
Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.148A>G (p.Ile50Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003818860] |
Chr16:15838105 [GRCh38]
Chr16:15931962 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.3531G>C (p.Thr1177=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003848226] |
Chr16:15732684 [GRCh38]
Chr16:15826541 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2160C>A (p.Val720=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003820363] |
Chr16:15748067 [GRCh38]
Chr16:15841924 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3839A>G (p.Asp1280Gly) |
single nucleotide variant |
not provided [RCV003736437] |
Chr16:15726867 [GRCh38]
Chr16:15820724 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.2961C>A (p.Ile987=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003853123] |
Chr16:15740087 [GRCh38]
Chr16:15833944 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.633+1894T>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003847375] |
Chr16:15784736 [GRCh38]
Chr16:15878593 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.210G>C (p.Thr70=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003848588] |
Chr16:15838043 [GRCh38]
Chr16:15931900 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.195T>C (p.Asn65=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003818204] |
Chr16:15838058 [GRCh38]
Chr16:15931915 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1281A>G (p.Ala427=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003859358] |
Chr16:15759696 [GRCh38]
Chr16:15853553 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.1950C>T (p.Phe650=) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003844552] |
Chr16:15750246 [GRCh38]
Chr16:15844103 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.2652+9A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003861122] |
Chr16:15741751 [GRCh38]
Chr16:15835608 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.3863A>C (p.Glu1288Ala) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003821239] |
Chr16:15724988 [GRCh38]
Chr16:15818845 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.530+10A>G |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003864875] |
Chr16:15798650 [GRCh38]
Chr16:15892507 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.345+9T>C |
single nucleotide variant |
MYH11-related condition [RCV003954879] |
Chr16:15837899 [GRCh38]
Chr16:15931756 [GRCh37]
Chr16:16p13.11 |
likely benign |
| NM_002474.3(MYH11):c.4284G>A (p.Glu1428=) |
single nucleotide variant |
MYH11-related condition [RCV003898955] |
Chr16:15724242 [GRCh38]
Chr16:15818099 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1 |
copy number loss |
not provided [RCV003885473] |
Chr16:14927578..16481355 [GRCh37]
Chr16:16p13.11 |
pathogenic |
| NM_002474.3(MYH11):c.4712C>T (p.Ala1571Val) |
single nucleotide variant |
Aortic aneurysm, familial thoracic 4 [RCV003984895] |
Chr16:15720918 [GRCh38]
Chr16:15814775 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3 |
copy number gain |
not provided [RCV003885472] |
Chr16:14858860..16367932 [GRCh37]
Chr16:16p13.11 |
likely pathogenic |
| NM_002474.3(MYH11):c.5679C>T (p.Ser1893=) |
single nucleotide variant |
MYH11-related condition [RCV003982240] |
Chr16:15715016 [GRCh38]
Chr16:15808873 [GRCh37]
Chr16:16p13.11 |
likely benign |
| GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1 |
copy number loss |
not provided [RCV003885475] |
Chr16:15458733..18188719 [GRCh37]
Chr16:16p13.11-12.3 |
pathogenic |
| NM_002474.3(MYH11):c.5346G>C (p.Lys1782Asn) |
single nucleotide variant |
not provided [RCV003132731] |
Chr16:15717298 [GRCh38]
Chr16:15811155 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
| NM_002474.3(MYH11):c.1124A>G (p.Asn375Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001189052] |
Chr16:15763801 [GRCh38]
Chr16:15857658 [GRCh37]
Chr16:16p13.11 |
uncertain significance |
