Related gene-specific medical variations for Gene (Select 54820) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075487	NM_002474.3(MYH11):c.5719C>G (p.Leu1907Val)	MYH11, NDE1 (L1907V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075416	NM_002474.3(MYH11):c.4620G>A (p.Gln1540=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075359	NM_002474.3(MYH11):c.4913A>T (p.Lys1638Met)	MYH11, NDE1 (K1638M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075275	NM_002474.3(MYH11):c.5199C>T (p.Arg1733=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075190	NM_002474.3(MYH11):c.5121C>A (p.Asp1707Glu)	MYH11, NDE1 (D1707E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075183	NM_002474.3(MYH11):c.5577G>C (p.Glu1859Asp)	MYH11, NDE1 (E1859D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075166	NM_002474.3(MYH11):c.4616C>T (p.Thr1539Ile)	MYH11, NDE1 (T1539I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075129	NM_002474.3(MYH11):c.5770C>T (p.Leu1924Phe)	MYH11, NDE1 (L1924F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075098	NM_002474.3(MYH11):c.5284G>C (p.Ala1762Pro)	MYH11, NDE1 (A1762P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074997	NM_002474.3(MYH11):c.4597T>C (p.Ser1533Pro)	NDE1, MYH11 (S1533P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074985	NM_001040113.2(MYH11):c.5811G>A (p.Gly1937=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074915	NM_002474.3(MYH11):c.4221G>A (p.Gln1407=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074902	NM_002474.3(MYH11):c.4784A>G (p.Gln1595Arg)	NDE1, MYH11 (Q1595R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074810	NM_002474.3(MYH11):c.4050C>G (p.Asp1350Glu)	NDE1, MYH11 (D1350E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074744	NM_002474.3(MYH11):c.5339C>A (p.Ala1780Asp)	MYH11, NDE1 (A1780D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074626	NM_002474.3(MYH11):c.5103G>C (p.Arg1701Ser)	MYH11, NDE1 (R1701S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074555	NM_002474.3(MYH11):c.5506G>C (p.Glu1836Gln)	NDE1, MYH11 (E1836Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074539	NM_002474.3(MYH11):c.5083-9C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074525	NM_002474.3(MYH11):c.5651G>A (p.Arg1884Lys)	MYH11, NDE1 (R1884K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074483	NM_002474.3(MYH11):c.4381A>G (p.Lys1461Glu)	MYH11, NDE1 (K1461E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074323	NM_002474.3(MYH11):c.4947del (p.Lys1649fs)	MYH11, NDE1 (K1649fs +1 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074161	NM_002474.3(MYH11):c.5466G>A (p.Lys1822=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074114	NM_002474.3(MYH11):c.4654G>C (p.Glu1552Gln)	MYH11, NDE1 (E1552Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3074094	NM_002474.3(MYH11):c.5385G>T (p.Lys1795Asn)	MYH11, NDE1 (K1795N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073840	NM_002474.3(MYH11):c.4954-5T>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073572	NM_002474.3(MYH11):c.5318T>C (p.Leu1773Pro)	NDE1, MYH11 (L1773P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073566	NM_002474.3(MYH11):c.3859-3T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073553	NM_002474.3(MYH11):c.4278G>A (p.Gln1426=)	MYH11, NDE1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073512	NM_002474.3(MYH11):c.4104T>C (p.Thr1368=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073482	NM_002474.3(MYH11):c.4792-12T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073460	NM_002474.3(MYH11):c.4284G>T (p.Glu1428Asp)	MYH11, NDE1 (E1428D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073418	NM_002474.3(MYH11):c.4760A>G (p.Asn1587Ser)	MYH11, NDE1 (N1587S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073331	NM_002474.3(MYH11):c.4579-13del	MYH11, NDE1	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073302	NM_002474.3(MYH11):c.5729C>T (p.Ala1910Val)	MYH11, NDE1 (A1910V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073299	NM_002474.3(MYH11):c.4034G>C (p.Arg1345Pro)	MYH11, NDE1 (R1345P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073249	NM_002474.3(MYH11):c.5285C>T (p.Ala1762Val)	MYH11, NDE1 (A1762V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073218	NM_002474.3(MYH11):c.4231A>C (p.Lys1411Gln)	MYH11, NDE1 (K1411Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072950	NM_002474.3(MYH11):c.4999T>A (p.Ser1667Thr)	MYH11, NDE1 (S1667T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072857	NM_002474.3(MYH11):c.4366-6T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072831	NM_002474.3(MYH11):c.4870G>A (p.Gly1624Arg)	MYH11, NDE1 (G1624R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072791	NM_002474.3(MYH11):c.4737T>A (p.Asp1579Glu)	MYH11, NDE1 (D1579E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072722	NM_002474.3(MYH11):c.5263A>C (p.Met1755Leu)	MYH11, NDE1 (M1755L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072631	NM_002474.3(MYH11):c.5272C>T (p.Arg1758Trp)	MYH11, NDE1 (R1758W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072481	NM_002474.3(MYH11):c.5327A>T (p.Glu1776Val)	MYH11, NDE1 (E1776V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072480	NM_002474.3(MYH11):c.5326G>T (p.Glu1776Ter)	NDE1, MYH11 (E1776* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072427	NM_002474.3(MYH11):c.5036A>G (p.Glu1679Gly)	MYH11, NDE1 (E1679G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072402	NM_002474.3(MYH11):c.4598C>T (p.Ser1533Phe)	MYH11, NDE1 (S1533F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072322	NM_002474.3(MYH11):c.4316A>G (p.Gln1439Arg)	MYH11, NDE1 (Q1439R +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072312	NM_002474.3(MYH11):c.5651G>C (p.Arg1884Thr)	MYH11, NDE1 (R1884T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072273	NM_002474.3(MYH11):c.4485C>T (p.Ala1495=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3072262	NM_002474.3(MYH11):c.4151C>G (p.Ala1384Gly)	MYH11, NDE1 (A1384G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072252	NM_002474.3(MYH11):c.4022T>C (p.Leu1341Pro)	MYH11, NDE1 (L1341P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072219	NM_002474.3(MYH11):c.5188G>A (p.Glu1730Lys)	MYH11, NDE1 (E1730K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072202	NM_002474.3(MYH11):c.5699G>A (p.Arg1900His)	MYH11, NDE1 (R1900H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072195	NM_001040113.2(MYH11):c.5808-6_5809del	MYH11, NDE1	Deletion (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072172	NM_002474.3(MYH11):c.4163A>G (p.Glu1388Gly)	MYH11, NDE1 (E1388G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072155	NM_002474.3(MYH11):c.3993G>A (p.Lys1331=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3071880	NM_002474.3(MYH11):c.5738G>A (p.Ser1913Asn)	MYH11, NDE1 (S1913N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071706	NM_002474.3(MYH11):c.4735G>C (p.Asp1579His)	MYH11, NDE1 (D1579H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071670	NM_002474.3(MYH11):c.4932C>T (p.Ile1644=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3071663	NM_002474.3(MYH11):c.4824G>A (p.Glu1608=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3071476	NM_002474.3(MYH11):c.4675G>C (p.Glu1559Gln)	MYH11, NDE1 (E1559Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071412	NM_002474.3(MYH11):c.3976G>C (p.Glu1326Gln)	MYH11, NDE1 (E1326Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071339	NM_002474.3(MYH11):c.4874A>C (p.Asp1625Ala)	MYH11, NDE1 (D1625A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071273	NM_002474.3(MYH11):c.4868A>T (p.Glu1623Val)	NDE1, MYH11 (E1623V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071258	NM_002474.3(MYH11):c.5245C>G (p.Gln1749Glu)	MYH11, NDE1 (Q1749E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071164	NM_002474.3(MYH11):c.5412G>T (p.Met1804Ile)	NDE1, MYH11 (M1804I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071163	NM_002474.3(MYH11):c.3907G>A (p.Ala1303Thr)	MYH11, NDE1 (A1303T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071072	NM_002474.3(MYH11):c.4596G>C (p.Lys1532Asn)	NDE1, MYH11 (K1532N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071007	NM_002474.3(MYH11):c.5787-4725G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071006	NM_002474.3(MYH11):c.5172-7C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070996	NM_002474.3(MYH11):c.3964-5T>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070994	NM_002474.3(MYH11):c.3886C>G (p.Leu1296Val)	MYH11, NDE1 (L1296V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070978	NM_002474.3(MYH11):c.5677T>A (p.Ser1893Thr)	NDE1, MYH11 (S1893T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070976	NM_002474.3(MYH11):c.5070G>A (p.Met1690Ile)	MYH11, NDE1 (M1690I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070962	NM_002474.3(MYH11):c.5690A>C (p.Asn1897Thr)	MYH11, NDE1 (N1897T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070929	NM_002474.3(MYH11):c.5687T>A (p.Ile1896Asn)	MYH11, NDE1 (I1896N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070742	NM_002474.3(MYH11):c.4203C>A (p.Ile1401=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3070723	NM_002474.3(MYH11):c.5295G>A (p.Gln1765=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070719	NM_002474.3(MYH11):c.5547G>C (p.Lys1849Asn)	MYH11, NDE1 (K1849N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070693	NM_002474.3(MYH11):c.4136A>T (p.Lys1379Met)	MYH11, NDE1 (K1379M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070682	NM_002474.3(MYH11):c.4033C>T (p.Arg1345Trp)	MYH11, NDE1 (R1345W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070576	NM_002474.3(MYH11):c.3984C>T (p.Thr1328=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3070505	NM_002474.3(MYH11):c.4843G>A (p.Ala1615Thr)	MYH11, NDE1 (A1615T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070477	NM_002474.3(MYH11):c.5377C>T (p.Gln1793Ter)	NDE1, MYH11 (Q1793* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070448	NM_002474.3(MYH11):c.4525C>T (p.Leu1509Phe)	MYH11, NDE1 (L1509F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070407	NM_002474.3(MYH11):c.5231A>T (p.Glu1744Val)	MYH11, NDE1 (E1744V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070155	NM_002474.3(MYH11):c.3954G>C (p.Gln1318His)	MYH11, NDE1 (Q1318H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070118	NM_002474.3(MYH11):c.4334A>G (p.Asn1445Ser)	MYH11, NDE1 (N1445S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070075	NM_002474.3(MYH11):c.5422_5433del (p.Val1808_Lys1811del)	MYH11, NDE1	Deletion (inframe_deletion +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070073	NM_002474.3(MYH11):c.5614-6C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070063	NM_002474.3(MYH11):c.3963G>A (p.Gln1321=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070056	NM_002474.3(MYH11):c.3905del (p.Lys1302fs)	MYH11, NDE1 (K1302fs +1 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3069895	NM_002474.3(MYH11):c.3876C>A (p.Val1292=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3069843	NM_002474.3(MYH11):c.5787-4729C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3069833	NM_002474.3(MYH11):c.4251A>C (p.Lys1417Asn)	MYH11, NDE1 (K1417N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3069814	NM_002474.3(MYH11):c.4985A>C (p.Glu1662Ala)	MYH11, NDE1 (E1662A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3069807	NM_002474.3(MYH11):c.5172-13G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3069745	NM_002474.3(MYH11):c.4605G>T (p.Arg1535=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3069728	NM_002474.3(MYH11):c.5083-15C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign

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