"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MYH11"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417356	NC_000016.9:g.(?_15796992)_(15932126_?)dup	NDE1, LOC113939949 +1 more	Duplication	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 465702	NC_000016.10:g.(?_15703971)_(15838272_?)del	LOC113939949, MYH11 +1 more	Deletion	Aortic aneurysm, familial thoracic 4	GPathogenic
Select item 656828	NC_000016.10:g.(?_15703981)_(15838262_?)del	LOC113939949, MYH11 +1 more	Deletion	Aortic aneurysm, familial thoracic 4	GPathogenic
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)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 417357	NC_000016.10:g.(?_15708803)_(15838269_?)del	LOC113939949, MYH11 +1 more	Deletion	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 417355	NC_000016.9:g.(?_15802660)_(15932126_?)dup	LOC113939949, MYH11 +1 more	Duplication	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 584108	NC_000016.9:g.(?_15802662)_(15880595_?)dup	LOC113939949, MYH11 +1 more	Duplication	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 267329	NC_000016.9:g.(?_15802662)_(15932115_?)dup	LOC113939949, MYH11 +1 more	Duplication	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2712532	NM_001040113.2(MYH11):c.5832G>C (p.Ser1944=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 465753	NM_001040113.2(MYH11):c.5832G>A (p.Ser1944=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +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 1421510	NM_001040113.2(MYH11):c.5828C>T (p.Thr1943Ile)	MYH11, NDE1 (T1936I +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	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)	Familial thoracic aortic aneurysm and aortic dissection +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)	not provided +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)	not provided +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)	not provided +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)	Familial thoracic aortic aneurysm and aortic dissection +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)	not provided +2 more	GUncertain significance
Select item 374962	NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala)	NDE1, MYH11 (P1940A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 2702349	NM_001040113.2(MYH11):c.5815C>T (p.Pro1939Ser)	MYH11, NDE1 (P1932S +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 1542062	NM_001040113.2(MYH11):c.5814C>A (p.Pro1938=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 1318944	NM_001040113.2(MYH11):c.5813C>G (p.Pro1938Arg)	MYH11, NDE1 (P1931R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 920683	NM_001040113.2(MYH11):c.5813C>T (p.Pro1938Leu)	MYH11, NDE1 (P1938L +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 927367	NM_001040113.2(MYH11):c.5811G>C (p.Gly1937=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2140785	NM_001040113.2(MYH11):c.5808-3_5808-2del	MYH11, NDE1	Deletion (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 924791	NM_002474.3(MYH11):c.5787-4727_5787-4724del	MYH11, NDE1	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)	not provided +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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 516344	NM_002474.3(MYH11):c.5787-4737G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 1435464	NM_002474.3(MYH11):c.5787-4738G>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2735081	NM_002474.3(MYH11):c.5786+19G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2178681	NM_002474.3(MYH11):c.5786+19G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 515818	NM_002474.3(MYH11):c.5786+18C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 2724334	NM_002474.3(MYH11):c.5786+17C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2418425	NM_002474.3(MYH11):c.5786+12G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 513643	NM_002474.3(MYH11):c.5786+12G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 257262	NM_002474.3(MYH11):c.5786+11C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1639993	NM_002474.3(MYH11):c.5786+9_5786+10insA	MYH11, NDE1	Insertion (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 1549425	NM_002474.3(MYH11):c.5786+8G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 1587181	NM_002474.3(MYH11):c.5786+7A>G	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GConflicting classifications of pathogenicity
Select item 918795	NM_002474.3(MYH11):c.5786+6G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 2067782	NM_002474.3(MYH11):c.5785A>C (p.Arg1929=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 1945081	NM_002474.3(MYH11):c.5784C>T (p.Leu1928=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 1494983	NM_002474.3(MYH11):c.5777G>A (p.Ser1926Asn)	NDE1, MYH11 (S1926N +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 318090	NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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)	Visceral myopathy 2 +4 more	GUncertain significance
Select item 782204	NM_002474.3(MYH11):c.5766C>T (p.Asn1922=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 924178	NM_002474.3(MYH11):c.5758G>A (p.Glu1920Lys)	NDE1, MYH11 (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)	NDE1, MYH11 (R1926H +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 1992961	NM_002474.3(MYH11):c.5748C>T (p.Ala1916=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely 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 2071282	NM_002474.3(MYH11):c.5742C>G (p.Asn1914Lys)	MYH11, NDE1 (N1921K +1 more)	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 264107	NM_002474.3(MYH11):c.5742C>T (p.Asn1914=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +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)	not provided +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 1379302	NM_002474.3(MYH11):c.5734G>A (p.Glu1912Lys)	MYH11, NDE1 (E1912K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	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 850077	NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg)	MYH11, NDE1 (T1911R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
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 +4 more	GConflicting classifications of pathogenicity
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 1127680	NM_002474.3(MYH11):c.5724T>C (p.Asp1908=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 2442814	NM_002474.3(MYH11):c.5723A>C (p.Asp1908Ala)	MYH11, NDE1 (D1908A +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 629805	NM_002474.3(MYH11):c.5713C>T (p.Arg1905Trp)	MYH11, NDE1 (R1905W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 413425	NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser)	NDE1, MYH11 (N1906S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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)	Aortic aneurysm, familial thoracic 4 +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)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 1618720	NM_002474.3(MYH11):c.5682G>A (p.Gln1894=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	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)	Familial thoracic aortic aneurysm and aortic dissection +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)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1144118	NM_002474.3(MYH11):c.5673G>A (p.Glu1891=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 919279	NM_002474.3(MYH11):c.5670G>A (p.Glu1890=)	MYH11, NDE1	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 specified +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)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 1329447	NM_002474.3(MYH11):c.5637C>T (p.Val1879=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 2090962	NM_002474.3(MYH11):c.5636T>C (p.Val1879Ala)	MYH11, NDE1 (V1879A +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2828924	NM_002474.3(MYH11):c.5635G>T (p.Val1879Phe)	MYH11, NDE1 (V1879F +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	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)	not provided +4 more	GLikely benign
Select item 1015991	NM_002474.3(MYH11):c.5628T>A (p.Asn1876Lys)	MYH11, NDE1 (N1876K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
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 1339615	NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp)	MYH11, NDE1 (E1873D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1153373	NM_002474.3(MYH11):c.5619G>A (p.Glu1873=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely benign
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 2787200	NM_002474.3(MYH11):c.5614-5G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 1971491	NM_002474.3(MYH11):c.5614-5G>T	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 923069	NM_002474.3(MYH11):c.5614-5G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +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

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