"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1171328	NM_002474.3(MYH11):c.5787-4685C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927583	NM_001040113.2(MYH11):c.5836T>A (p.Ter1946Arg)	MYH11, NDE1	Single nucleotide variant (stop lost +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 920686	NM_001040113.2(MYH11):c.5833C>T (p.Gln1945Ter)	MYH11, NDE1 (Q1945* +1 more)	Single nucleotide variant (nonsense +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 465753	NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 218497	NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg)	MYH11, NDE1 (Q1941R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 1012101	NM_001040113.2(MYH11):c.5820dup (p.Gln1941fs)	MYH11, NDE1 (Q1934fs +1 more)	Duplication (frameshift variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GConflicting classifications of pathogenicity
Select item 238264	NM_001040113.2(MYH11):c.5821C>A (p.Gln1941Lys)	MYH11, NDE1 (Q1941K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 201119	NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu)	MYH11, NDE1 (P1933L +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 1332580	NM_001040113.2(MYH11):c.5818C>T (p.Pro1940Ser)	MYH11, NDE1 (P1933S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1550838	NM_001040113.2(MYH11):c.5817C>T (p.Pro1939=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 392444	NM_001040113.2(MYH11):c.5817C>A (p.Pro1939=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 920683	NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu)	NDE1, MYH11 (P1938L +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 503667	NM_001040113.2(MYH11):c.5813C>A (p.Pro1938His)	MYH11, NDE1 (P1938H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 852783	NM_001040113.2(MYH11):c.5812C>G (p.Pro1938Ala)	MYH11, NDE1 (P1931A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 927367	NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
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 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 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 920969	NM_002474.3(MYH11):c.5787-4733C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 3069675	NM_002474.3(MYH11):c.5776A>G (p.Ser1926Gly)	MYH11, NDE1 (S1926G +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 924843	NM_002474.3(MYH11):c.5772C>T (p.Leu1924=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 3075129	NM_002474.3(MYH11):c.5770C>T (p.Leu1924Phe)	NDE1, MYH11 (L1924F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 782204	NM_002474.3(MYH11):c.5766C>T (p.Asn1922=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
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 924178	NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys)	MYH11, NDE1 (E1920K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 921354	NM_002474.3(MYH11):c.5756G>A (p.Arg1919His)	MYH11, NDE1 (R1926H +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
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 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 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 3073302	NM_002474.3(MYH11):c.5729C>T (p.Ala1910Val)	NDE1, MYH11 (A1910V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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 2960733	NM_002474.3(MYH11):c.5700C>T (p.Arg1900=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 3072202	NM_002474.3(MYH11):c.5699G>A (p.Arg1900His)	NDE1, MYH11 (R1900H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 921843	NM_002474.3(MYH11):c.5692G>A (p.Ala1898Thr)	MYH11, NDE1 (A1898T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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 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 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 1618720	NM_002474.3(MYH11):c.5682G>A (p.Gln1894=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 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 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 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 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 923504	NM_002474.3(MYH11):c.5633G>C (p.Arg1878Thr)	MYH11, NDE1 (R1878T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1015991	NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys)	MYH11, NDE1 (N1876K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 918386	NM_002474.3(MYH11):c.5617G>C (p.Glu1873Gln)	MYH11, NDE1 (E1873Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	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 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 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 701425	NM_002474.3(MYH11):c.5614-6C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 3069325	NM_002474.3(MYH11):c.5613+5C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2909943	NM_002474.3(MYH11):c.5598G>A (p.Glu1866=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 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 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 918330	NM_002474.3(MYH11):c.5574G>A (p.Val1858=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 927493	NM_002474.3(MYH11):c.5553G>A (p.Leu1851=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 1352146	NM_002474.3(MYH11):c.5546A>G (p.Lys1849Arg)	MYH11, NDE1 (K1856R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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 927059	NM_002474.3(MYH11):c.5528C>G (p.Ser1843Trp)	MYH11, NDE1 (S1843W +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 1093203	NM_002474.3(MYH11):c.5520C>T (p.Ala1840=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 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 3074555	NM_002474.3(MYH11):c.5506G>C (p.Glu1836Gln)	MYH11, NDE1 (E1836Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 378209	NM_002474.3(MYH11):c.5504+6C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +2 more	GConflicting classifications of pathogenicity
Select item 2773787	NM_002474.3(MYH11):c.5499G>A (p.Glu1833=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 918235	NM_002474.3(MYH11):c.5496G>C (p.Gln1832His)	MYH11, NDE1 (Q1832H +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 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 918902	NM_002474.3(MYH11):c.5491G>A (p.Glu1831Lys)	MYH11, NDE1 (E1838K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 923877	NM_002474.3(MYH11):c.5490C>T (p.Val1830=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
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 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 561303	NM_002474.3(MYH11):c.5483A>T (p.Glu1828Val)	NDE1, MYH11 (E1835V +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +1 more	GUncertain significance
Select item 2773788	NM_002474.3(MYH11):c.5482G>A (p.Glu1828Lys)	MYH11, NDE1 (E1828K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 923505	NM_002474.3(MYH11):c.5479G>A (p.Glu1827Lys)	MYH11, NDE1 (E1834K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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 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 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 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 618231	NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)	MYH11, NDE1 (S1814F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 138353	NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +7 more	GBenign/Likely benign

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