C1851504[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
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)	not specified +3 more	GBenign/Likely benign
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 +1 more	GLikely benign
Select item 138359	NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +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)	not provided +3 more	GBenign/Likely benign
Select item 318092	NM_017668.3(NDE1):c.948-9103C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Lissencephaly, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 496101	NM_017668.3(NDE1):c.948-9102G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 138357	NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 197068	NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 413417	NM_017668.3(NDE1):c.948-7058C>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 201086	NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	MYH11, NDE1 (E1833D +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 138354	NM_002474.3(MYH11):c.5478G>A (p.Leu1826=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 138353	NM_002474.3(MYH11):c.5439G>A (p.Lys1813=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 138350	NM_017668.3(NDE1):c.948-6839G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 318101	NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)	MYH11, NDE1 (E1749D +1 more)	Single nucleotide variant (missense variant +1 more)	MYH11-related condition +5 more	GConflicting classifications of pathogenicity
Select item 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	NDE1, MYH11 (K1628Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 36621	NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +5 more	GBenign/Likely benign
Select item 386684	NM_002474.3(MYH11):c.4680C>T (p.Asp1560=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 138346	NM_017668.3(NDE1):c.948-2772T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138345	NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)	MYH11, NDE1 (M1515V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 201076	NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)	MYH11, NDE1 (A1468V +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 522352	NM_017668.3(NDE1):c.948-40C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 534148	NM_017668.3(NDE1):c.948-39G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +2 more	GConflicting classifications of pathogenicity
Select item 318113	NM_017668.3(NDE1):c.990G>A (p.Arg330=)	MYH11, NDE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138342	NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GBenign
Select item 138341	NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 201034	NM_017668.3(NDE1):c.*388del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 201070	NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu)	MYH11, NDE1 (Q1325E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 201068	NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)	MYH11, NDE1 (V1310M +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 263686	NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)	MYH11, NDE1 (I1304L +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GConflicting classifications of pathogenicity
Select item 138337	NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala)	MYH11, NDE1 (V1296A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 138335	NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)	MYH11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 36620	NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 263518	NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)	MYH11 (K1256Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 36619	NM_002474.3(MYH11):c.3652-6C>T	MYH11	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 378204	NM_002474.3(MYH11):c.3531G>A (p.Thr1177=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 257257	NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 201026	NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 318162	NM_002474.3(MYH11):c.2802G>A (p.Glu934=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220799	NM_002474.3(MYH11):c.2049C>T (p.His683=)	MYH11	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 161319	NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)	MYH11 (R676C +1 more)	Single nucleotide variant (missense variant)	MYH11-related condition +4 more	GConflicting classifications of pathogenicity
Select item 318169	NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)	MYH11 (G634S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 201050	NM_002474.3(MYH11):c.1575+8del	MYH11	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 522353	NM_002474.3(MYH11):c.1569G>A (p.Glu523=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 522354	NM_002474.3(MYH11):c.1440C>T (p.Asn480=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 138372	NM_002474.3(MYH11):c.1419G>A (p.Gln473=)	MYH11	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 381193	NM_002474.3(MYH11):c.1413C>T (p.Phe471=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 629111	NM_002474.3(MYH11):c.1402-12C>G	MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 925154	NM_002474.3(MYH11):c.1077C>T (p.Ile359=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 138369	NM_002474.3(MYH11):c.987C>T (p.Thr329=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 201103	NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)	MYH11 (N305S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 161317	NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)	MYH11 (R254C +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +7 more	GConflicting classifications of pathogenicity
Select item 534157	NM_002474.3(MYH11):c.690C>T (p.Asn230=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 138367	NM_002474.3(MYH11):c.633+1942T>C	MYH11	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 263862	NM_002474.3(MYH11):c.472G>A (p.Ala158Thr)	MYH11 (A158T)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +5 more	GConflicting classifications of pathogenicity
Select item 201046	NM_002474.3(MYH11):c.453G>A (p.Pro151=)	MYH11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 238261	NM_002474.3(MYH11):c.429G>A (p.Lys143=)	MYH11	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 465720	NM_002474.3(MYH11):c.300C>T (p.Ser100=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 379588	NM_002474.3(MYH11):c.57C>T (p.Asn19=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 138362	NM_002474.3(MYH11):c.12G>A (p.Lys4=)	MYH11	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity

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Items: 61