"GeneDx"[submitter] AND "MYH11"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145996	GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1	ABCC1, ABCC6 +56 more	Copy number loss	See cases	GPathogenic
Select item 1294395	NM_002474.3(MYH11):c.*65dup	MYH11, NDE1	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 318085	NM_002474.3(MYH11):c.61_65del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 318086	NM_002474.3(MYH11):c.*37C>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 381045	NM_002474.3(MYH11):c.*19G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 378210	NM_002474.3(MYH11):c.*13A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
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 1249865	NM_002474.3(MYH11):c.*1G>C	NDE1, MYH11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 +1 more	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 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 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 1319013	NM_002474.3(MYH11):c.5854G>C (p.Asp1952His)	MYH11, NDE1 (D1952H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 3370234	NM_002474.3(MYH11):c.5823G>T (p.Arg1941Ser)	MYH11, NDE1 (R1941S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3364505	NM_002474.3(MYH11):c.5809G>A (p.Val1937Ile)	MYH11, NDE1 (V1937I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 1315941	NM_002474.3(MYH11):c.5797G>A (p.Glu1933Lys)	MYH11, NDE1 (E1933K +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	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 503630	NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter)	MYH11, NDE1 (R1930* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 1200891	NM_002474.3(MYH11):c.5787-35C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678516	NM_002474.3(MYH11):c.5787-230C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674417	NM_002474.3(MYH11):c.5787-4629_5787-4625del	MYH11, NDE1	Microsatellite (intron variant)	not provided	GBenign
Select item 386332	NM_002474.3(MYH11):c.5787-4661C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681478	NM_002474.3(MYH11):c.5787-4672G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2580832	NM_001040113.2(MYH11):c.*8+1G>A	MYH11, NDE1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 2575725	NM_001040113.2(MYH11):c.5824G>A (p.Glu1942Lys)	MYH11, NDE1 (E1935K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	Aortic aneurysm, familial thoracic 4 +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 627645	NM_001040113.2(MYH11):c.5819del (p.Pro1940fs)	NDE1, MYH11 (P1933fs +1 more)	Deletion (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)	Aortic aneurysm, familial thoracic 4 +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)	not specified +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)	not provided +2 more	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)	not provided +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 465752	NM_002474.3(MYH11):c.5787-4733CT[3]	MYH11, NDE1	Microsatellite (intron variant)	Aortic aneurysm, familial thoracic 4 +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 516344	NM_002474.3(MYH11):c.5787-4737G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1178239	NM_002474.3(MYH11):c.5787-4839_5787-4835del	MYH11, NDE1	Deletion (intron variant)	not provided	GLikely benign
Select item 1191396	NM_002474.3(MYH11):c.5787-4882G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670999	NM_002474.3(MYH11):c.5787-4966C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671053	NM_002474.3(MYH11):c.5787-4998A>G	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675280	NM_002474.3(MYH11):c.5786+220C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216521	NM_002474.3(MYH11):c.5786+182G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515818	NM_002474.3(MYH11):c.5786+18C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +1 more	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 420397	NM_002474.3(MYH11):c.5786+6_5786+8del	MYH11, NDE1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 424073	NM_002474.3(MYH11):c.5767G>T (p.Ala1923Ser)	MYH11, NDE1 (A1923S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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=)	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 1316453	NM_002474.3(MYH11):c.5759A>T (p.Glu1920Val)	MYH11, NDE1 (E1920V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 201118	NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys)	MYH11, NDE1 (R1919C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 374963	NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met)	MYH11, NDE1 (T1918M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 1339615	NM_002474.3(MYH11):c.5619G>C (p.Glu1873Asp)	NDE1, MYH11 (E1873D +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
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 515076	NM_002474.3(MYH11):c.5614-18del	NDE1, MYH11	Deletion (intron variant)	not specified	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)	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 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 201087	NM_002474.3(MYH11):c.5573T>G (p.Val1858Gly)	MYH11, NDE1 (V1858G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1196200	NM_002474.3(MYH11):c.5545A>G (p.Lys1849Glu)	MYH11, NDE1 (K1849E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 1218619	NM_002474.3(MYH11):c.5504+271_5504+272del	MYH11, NDE1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 680738	NM_002474.3(MYH11):c.5504+268C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675279	NM_002474.3(MYH11):c.5504+115C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138355	NM_002474.3(MYH11):c.5504+8G>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
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 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 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 668174	NM_002474.3(MYH11):c.5490C>A (p.Val1830=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 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

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