"Color Diagnostics, LLC DBA Color Health"[submitter] AND "NDE1"[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)	Aortic aneurysm, familial thoracic 4 +4 more	GBenign/Likely benign
Select item 928247	NM_002474.3(MYH11):c.*4A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927720	NM_002474.3(MYH11):c.*3A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 922387	NM_002474.3(MYH11):c.5912G>C (p.Ser1971Thr)	MYH11, NDE1 (S1971T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 487586	NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser)	MYH11, NDE1 (N1973S +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 918428	NM_002474.3(MYH11):c.5881C>T (p.Arg1961Ter)	MYH11, NDE1 (R1961* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 519932	NM_002474.3(MYH11):c.5874G>A (p.Thr1958=)	NDE1, MYH11	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 923445	NM_002474.3(MYH11):c.5864A>T (p.Glu1955Val)	MYH11, NDE1 (E1955V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 927588	NM_002474.3(MYH11):c.5863G>A (p.Glu1955Lys)	NDE1, MYH11 (E1955K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 921204	NM_002474.3(MYH11):c.5850T>C (p.Asn1950=)	MYH11, NDE1	Single nucleotide variant (intron variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 626141	NM_002474.3(MYH11):c.5843T>C (p.Ile1948Thr)	NDE1, MYH11 (I1948T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	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)	not specified +4 more	GLikely benign
Select item 924346	NM_002474.3(MYH11):c.5825C>T (p.Ser1942Phe)	MYH11, NDE1 (S1942F +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 318088	NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 924729	NM_002474.3(MYH11):c.5808C>T (p.Phe1936=)	MYH11, NDE1	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)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 201043	NM_002474.3(MYH11):c.5796C>T (p.Asn1932=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
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 921660	NM_002474.3(MYH11):c.5787-7C>T	NDE1, MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2773779	NM_002474.3(MYH11):c.5787-4683C>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 565637	NM_001040113.2(MYH11):c.5831C>T (p.Ser1944Leu)	MYH11, NDE1 (S1944L +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 218497	NM_001040113.2(MYH11):c.5822A>G (p.Gln1941Arg)	MYH11, NDE1 (Q1941R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 238263	NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)	MYH11, NDE1 (Q1934fs +1 more)	Duplication (frameshift variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 201119	NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu)	MYH11, NDE1 (P1933L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 201042	NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg)	MYH11, NDE1 (P1933R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 201041	NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)	MYH11, NDE1 (P1933Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
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 374962	NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)	MYH11, NDE1 (P1940A +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GConflicting classifications of pathogenicity
Select item 392444	NM_001040113.2(MYH11):c.5817C>A (p.Pro1939=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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 923121	NM_001040113.2(MYH11):c.5812C>T (p.Pro1938Ser)	NDE1, MYH11 (P1931S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 924791	NM_002474.3(MYH11):c.5787-4727_5787-4724del	NDE1, MYH11	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 465752	NM_002474.3(MYH11):c.5787-4733CT[3]	MYH11, NDE1	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 201040	NM_002474.3(MYH11):c.5787-4733CT[2]	MYH11, NDE1	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 626888	NM_002474.3(MYH11):c.5787-4727C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GConflicting classifications of pathogenicity
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 918795	NM_002474.3(MYH11):c.5786+6G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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 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 782204	NM_002474.3(MYH11):c.5766C>T (p.Asn1922=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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)	not specified +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 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 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 924734	NM_002474.3(MYH11):c.5748C>G (p.Ala1916=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 264107	NM_002474.3(MYH11):c.5742C>T (p.Asn1914=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +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 797781	NM_002474.3(MYH11):c.5736G>A (p.Glu1912=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 519965	NM_002474.3(MYH11):c.5733G>A (p.Thr1911=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 374963	NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)	NDE1, MYH11 (T1918M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 2773780	NM_002474.3(MYH11):c.5718G>A (p.Glu1906=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 629805	NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp)	MYH11, NDE1 (R1905W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1170970	NM_002474.3(MYH11):c.5711A>G (p.Gln1904Arg)	MYH11, NDE1 (Q1904R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1172257	NM_002474.3(MYH11):c.5702G>A (p.Arg1901Lys)	MYH11, NDE1 (R1901K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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 2773782	NM_002474.3(MYH11):c.5691C>A (p.Asn1897Lys)	MYH11, NDE1 (N1904K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 138359	NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 519935	NM_002474.3(MYH11):c.5684G>A (p.Arg1895His)	NDE1, MYH11 (R1895H +1 more)	Single nucleotide variant (missense variant +1 more)	Visceral myopathy 2 +3 more	GUncertain significance
Select item 982356	NM_002474.3(MYH11):c.5683C>T (p.Arg1895Cys)	NDE1, MYH11 (R1895C +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated thoracic aortic aneurysm +1 more	GUncertain significance
Select item 920793	NM_002474.3(MYH11):c.5683C>A (p.Arg1895Ser)	MYH11, NDE1 (R1895S +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 138358	NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)	MYH11, NDE1 (E1899D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2773783	NM_002474.3(MYH11):c.5674G>A (p.Glu1892Lys)	MYH11, NDE1 (E1892K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
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 2773784	NM_002474.3(MYH11):c.5656_5668del (p.Leu1886fs)	MYH11, NDE1 (L1893fs +1 more)	Deletion (frameshift variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 +2 more	GConflicting classifications of pathogenicity
Select item 264071	NM_002474.3(MYH11):c.5652G>A (p.Arg1884=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 926419	NM_002474.3(MYH11):c.5644C>T (p.Leu1882Phe)	MYH11, NDE1 (L1882F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2773785	NM_002474.3(MYH11):c.5642A>G (p.Gln1881Arg)	MYH11, NDE1 (Q1881R +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 921199	NM_002474.3(MYH11):c.5634G>A (p.Arg1878=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 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 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 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 701425	NM_002474.3(MYH11):c.5614-6C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 318092	NM_002474.3(MYH11):c.5614-7G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 496101	NM_002474.3(MYH11):c.5614-8C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
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 263884	NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys)	MYH11, NDE1 (E1866K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 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

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