"Ambry Genetics"[submitter] AND "MYH11"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 192314	NM_002474.3(MYH11):c.*5C>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 1750423	NM_002474.3(MYH11):c.5907G>A (p.Lys1969=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3156222	NM_002474.3(MYH11):c.5897A>C (p.Asn1966Thr)	MYH11, NDE1 (N1973T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 419054	NM_002474.3(MYH11):c.5887G>A (p.Ala1963Thr)	MYH11, NDE1 (A1963T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 318087	NM_002474.3(MYH11):c.5886C>T (p.Asp1962=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1750233	NM_002474.3(MYH11):c.5879C>A (p.Thr1960Asn)	MYH11, NDE1 (T1960N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 519932	NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3222397	NM_002474.3(MYH11):c.5873C>A (p.Thr1958Lys)	MYH11, NDE1 (T1958K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 201045	NM_002474.3(MYH11):c.5873C>T (p.Thr1958Met)	MYH11, NDE1 (T1958M +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 807997	NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)	NDE1, MYH11 (E1957Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3297365	NM_002474.3(MYH11):c.5868G>A (p.Glu1956=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1750163	NM_002474.3(MYH11):c.5865G>A (p.Glu1955=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3222396	NM_002474.3(MYH11):c.5859T>A (p.Gly1953=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3156218	NM_002474.3(MYH11):c.5858G>A (p.Gly1953Asp)	MYH11, NDE1 (G1953D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3156212	NM_002474.3(MYH11):c.5857G>C (p.Gly1953Arg)	MYH11, NDE1 (G1960R +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2496682	NM_002474.3(MYH11):c.5857G>A (p.Gly1953Ser)	MYH11, NDE1 (G1960S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1750095	NM_002474.3(MYH11):c.5856T>C (p.Asp1952=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 920485	NM_002474.3(MYH11):c.5852C>T (p.Ala1951Val)	MYH11, NDE1 (A1951V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2605897	NM_002474.3(MYH11):c.5847A>C (p.Glu1949Asp)	MYH11, NDE1 (E1956D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1749994	NM_002474.3(MYH11):c.5838A>G (p.Arg1946=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1749990	NM_002474.3(MYH11):c.5836A>G (p.Arg1946Gly)	MYH11, NDE1 (R1946G +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1749986	NM_002474.3(MYH11):c.5834G>A (p.Arg1945His)	MYH11, NDE1 (R1952H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920086	NM_002474.3(MYH11):c.5833C>T (p.Arg1945Cys)	MYH11, NDE1 (R1952C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 514103	NM_002474.3(MYH11):c.5829A>G (p.Gly1943=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Visceral myopathy 2 +4 more	GLikely benign
Select item 3222395	NM_002474.3(MYH11):c.5826T>A (p.Ser1942=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 318088	NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)	NDE1, MYH11	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1749825	NM_002474.3(MYH11):c.5809G>C (p.Val1937Leu)	MYH11, NDE1 (V1937L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 201044	NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser)	MYH11, NDE1 (T1934S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 6 +5 more	GConflicting classifications of pathogenicity
Select item 1749681	NM_002474.3(MYH11):c.5796C>A (p.Asn1932Lys)	MYH11, NDE1 (N1939K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 201043	NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1218188	NM_002474.3(MYH11):c.5788_5789insTTC (p.Arg1929_Arg1930insLeu)	MYH11, NDE1	Insertion (3 prime UTR variant +2 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more	GUncertain significance
Select item 928329	NM_002474.3(MYH11):c.5789G>A (p.Arg1930Gln)	MYH11, NDE1 (R1937Q +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 318090	NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 201092	NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)	MYH11, NDE1 (A1923T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 517788	NM_002474.3(MYH11):c.5760G>A (p.Glu1920=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 138360	NM_002474.3(MYH11):c.5757C>T (p.Arg1919=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +4 more	GBenign/Likely benign
Select item 2740057	NM_002474.3(MYH11):c.5743G>A (p.Glu1915Lys)	MYH11, NDE1 (E1915K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 264107	NM_002474.3(MYH11):c.5742C>T (p.Asn1914=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 923255	NM_002474.3(MYH11):c.5737A>C (p.Ser1913Arg)	MYH11, NDE1 (S1913R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1749344	NM_002474.3(MYH11):c.5734G>C (p.Glu1912Gln)	MYH11, NDE1 (E1912Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 519965	NM_002474.3(MYH11):c.5733G>A (p.Thr1911=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 201091	NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys)	MYH11, NDE1 (T1911K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1468105	NM_002474.3(MYH11):c.5728G>A (p.Ala1910Thr)	MYH11, NDE1 (A1910T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 927693	NM_002474.3(MYH11):c.5714G>A (p.Arg1905Gln)	MYH11, NDE1 (R1905Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1115845	NM_002474.3(MYH11):c.5713C>A (p.Arg1905=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 413425	NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser)	MYH11, NDE1 (N1906S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 138359	NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
Select item 519935	NM_002474.3(MYH11):c.5684G>A (p.Arg1895His)	MYH11, NDE1 (R1895H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 2625327	NM_002474.3(MYH11):c.5676G>A (p.Glu1892=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 138358	NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)	MYH11, NDE1 (E1899D +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
Select item 919279	NM_002474.3(MYH11):c.5670G>A (p.Glu1890=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 201090	NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)	MYH11, NDE1 (A1889V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 264071	NM_002474.3(MYH11):c.5652G>A (p.Arg1884=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 1383887	NM_002474.3(MYH11):c.5641C>A (p.Gln1881Lys)	MYH11, NDE1 (Q1881K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3297378	NM_002474.3(MYH11):c.5639A>G (p.Lys1880Arg)	MYH11, NDE1 (K1880R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 418581	NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile)	MYH11, NDE1 (V1879I +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 more	GLikely benign
Select item 843071	NM_002474.3(MYH11):c.5627A>G (p.Asn1876Ser)	MYH11, NDE1 (N1883S +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 1171613	NM_002474.3(MYH11):c.5616A>G (p.Ala1872=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 922842	NM_002474.3(MYH11):c.5615C>T (p.Ala1872Val)	MYH11, NDE1 (A1872V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 1748647	NM_002474.3(MYH11):c.5614G>C (p.Ala1872Pro)	MYH11, NDE1 (A1872P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 629279	NM_002474.3(MYH11):c.5614G>A (p.Ala1872Thr)	MYH11, NDE1 (A1879T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 923069	NM_002474.3(MYH11):c.5614-5G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GConflicting classifications of pathogenicity
Select item 629104	NM_002474.3(MYH11):c.5607G>A (p.Lys1869=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1748515	NM_002474.3(MYH11):c.5597A>G (p.Glu1866Gly)	MYH11, NDE1 (E1866G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3222394	NM_002474.3(MYH11):c.5596G>C (p.Glu1866Gln)	MYH11, NDE1 (E1866Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263884	NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys)	MYH11, NDE1 (E1866K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 264414	NM_002474.3(MYH11):c.5595C>T (p.Ala1865=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 384046	NM_002474.3(MYH11):c.5586C>G (p.Arg1862=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GBenign/Likely benign
Select item 201089	NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)	MYH11, NDE1 (R1862H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 927691	NM_002474.3(MYH11):c.5584C>T (p.Arg1862Cys)	MYH11, NDE1 (R1869C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 201088	NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys)	MYH11, NDE1 (E1861K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 918772	NM_002474.3(MYH11):c.5580C>T (p.Asp1860=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1748399	NM_002474.3(MYH11):c.5579A>G (p.Asp1860Gly)	MYH11, NDE1 (D1867G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 138357	NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GConflicting classifications of pathogenicity
Select item 920929	NM_002474.3(MYH11):c.5565G>A (p.Leu1855=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 197068	NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 201039	NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)	MYH11, NDE1 (S1843L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 3222393	NM_002474.3(MYH11):c.5520C>A (p.Ala1840=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 138356	NM_002474.3(MYH11):c.5517G>A (p.Ala1839=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign/Likely benign
Select item 197069	NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)	MYH11, NDE1 (A1846V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 263419	NM_002474.3(MYH11):c.5511A>G (p.Lys1837=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 918892	NM_002474.3(MYH11):c.5500G>A (p.Ala1834Thr)	MYH11, NDE1 (A1841T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 201086	NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	MYH11, NDE1 (E1833D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 921766	NM_002474.3(MYH11):c.5491G>C (p.Glu1831Gln)	MYH11, NDE1 (E1831Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920913	NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile)	MYH11, NDE1 (V1830I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 884830	NM_002474.3(MYH11):c.5485C>A (p.Gln1829Lys)	MYH11, NDE1 (Q1829K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 424572	NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu)	MYH11, NDE1 (Q1829E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 923924	NM_002474.3(MYH11):c.5484G>A (p.Glu1828=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 138354	NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +7 more	GBenign/Likely benign
Select item 450146	NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)	MYH11, NDE1 (A1824T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GConflicting classifications of pathogenicity
Select item 920693	NM_002474.3(MYH11):c.5468T>C (p.Ile1823Thr)	MYH11, NDE1 (I1823T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 923229	NM_002474.3(MYH11):c.5460G>A (p.Glu1820=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 512423	NM_002474.3(MYH11):c.5454G>A (p.Ala1818=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 628688	NM_002474.3(MYH11):c.5453C>T (p.Ala1818Val)	MYH11, NDE1 (A1818V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 510646	NM_002474.3(MYH11):c.5451G>A (p.Ala1817=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 201085	NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)	MYH11, NDE1 (A1817V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 3156192	NM_002474.3(MYH11):c.5449G>A (p.Ala1817Thr)	MYH11, NDE1 (A1817T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1747569	NM_002474.3(MYH11):c.5444_5448dup (p.Ala1817fs)	MYH11, NDE1 (A1817fs +1 more)	Duplication (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 771629	NM_002474.3(MYH11):c.5448C>T (p.Ile1816=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 2314104	NM_002474.3(MYH11):c.5447T>C (p.Ile1816Thr)	MYH11, NDE1 (I1816T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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