C1851504[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar - NCBI

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	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 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 465752	NM_017668.3(NDE1):c.947+11989AG[3]	MYH11, NDE1	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 201040	NM_017668.3(NDE1):c.947+11989AG[2]	MYH11, NDE1	Microsatellite (intron variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 201092	NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr)	MYH11, NDE1 (A1923T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 138360	NM_002474.3(MYH11):c.5757C>T (p.Arg1919=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 413425	NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser)	MYH11, NDE1 (N1906S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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)	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 201090	NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)	MYH11, NDE1 (A1889V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
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 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 138355	NM_017668.3(NDE1):c.948-7059C>G	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 465751	NM_017668.3(NDE1):c.948-7058C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 201085	NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)	MYH11, NDE1 (A1817V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 618231	NM_002474.3(MYH11):c.5441C>T (p.Ser1814Phe)	MYH11, NDE1 (S1814F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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)	not specified +7 more	GBenign/Likely benign
Select item 811106	NM_002474.3(MYH11):c.5429C>A (p.Ser1810Tyr)	NDE1, MYH11 (S1810Y +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 138352	NM_002474.3(MYH11):c.5379G>A (p.Gln1793=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 405472	NM_002474.3(MYH11):c.5336C>A (p.Thr1779Lys)	MYH11, NDE1 (T1786K +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GUncertain significance
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 318099	NM_002474.3(MYH11):c.5277C>T (p.Val1759=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 161316	NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)	MYH11, NDE1 (R1758Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 629396	NM_002474.3(MYH11):c.5187C>T (p.Asp1729=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 36625	NM_017668.3(NDE1):c.948-5739G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided +6 more	GBenign/Likely benign
Select item 925752	NM_002474.3(MYH11):c.5163G>T (p.Leu1721=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GLikely benign
Select item 138349	NM_002474.3(MYH11):c.5160C>T (p.Ser1720=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 218495	NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)	MYH11, NDE1 (S1691R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 318106	NM_002474.3(MYH11):c.4809G>A (p.Thr1603=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	MYH11-related condition +3 more	GConflicting classifications of pathogenicity
Select item 138348	NM_017668.3(NDE1):c.948-3356G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 318109	NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg)	MYH11, NDE1 (Q1597R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 264409	NM_002474.3(MYH11):c.4774A>C (p.Arg1592=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
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 465740	NM_002474.3(MYH11):c.4748G>A (p.Arg1583Gln)	MYH11, NDE1 (R1590Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 465739	NM_002474.3(MYH11):c.4706T>C (p.Met1569Thr)	MYH11, NDE1 (M1576T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 180419	NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met)	NDE1, MYH11 (T1565M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 180418	NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)	MYH11, NDE1 (R1542Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign/Likely benign
Select item 138347	NM_017668.3(NDE1):c.948-3127C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 516342	NM_017668.3(NDE1):c.948-3126G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 378206	NM_017668.3(NDE1):c.948-2788A>G	NDE1, MYH11	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely 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 138343	NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely 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 201110	NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)	MYH11, NDE1 (A1414T +1 more)	Indel (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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 201073	NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr)	MYH11, NDE1 (A1414T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 263393	NM_002474.3(MYH11):c.4239C>T (p.Ala1413=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GBenign/Likely benign
Select item 506597	NM_002474.3(MYH11):c.4203C>T (p.Ile1401=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 221033	NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
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 318115	NM_017668.3(NDE1):c.*202G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign
Select item 138340	NM_017668.3(NDE1):c.*384C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 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 138338	NM_002474.3(MYH11):c.3967C>T (p.Leu1323=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GBenign
Select item 465732	NM_017668.3(NDE1):c.*631A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 201031	NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)	MYH11, NDE1 (L1317I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 201069	NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)	MYH11, NDE1 (A1311V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
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 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 1467492	NM_002474.3(MYH11):c.3858+1G>A	MYH11	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
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 811383	NM_002474.3(MYH11):c.3808G>A (p.Asp1270Asn)	MYH11 (D1270N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 629488	NM_002474.3(MYH11):c.3805A>G (p.Ser1269Gly)	MYH11 (S1276G +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 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 138334	NM_002474.3(MYH11):c.3700G>A (p.Ala1234Thr)	MYH11, NDE1 (A1241T +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
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 263772	NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys)	MYH11 (E1207K +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 993647	NM_002474.3(MYH11):c.3429C>A (p.Asp1143Glu)	MYH11 (D1143E +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 138333	NM_002474.3(MYH11):c.3310G>A (p.Ala1104Thr)	MYH11 (A1111T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1210103	NM_002474.3(MYH11):c.3294-10del	MYH11	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 201060	NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val)	MYH11 (A1094V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 1330968	NM_002474.3(MYH11):c.3121+19G>A	MYH11	Single nucleotide variant (intron variant)	not provided +1 more	GLikely 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 318161	NM_002474.3(MYH11):c.2997+10G>T	MYH11	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 138332	NM_002474.3(MYH11):c.2961C>T (p.Ile987=)	MYH11	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 201058	NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)	MYH11 (A965S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 918959	NM_002474.3(MYH11):c.2724G>T (p.Glu908Asp)	MYH11 (E915D +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318164	NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)	MYH11 (K889Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 811352	NM_002474.3(MYH11):c.2653-19C>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 918961	NM_002474.3(MYH11):c.2600G>A (p.Arg867Gln)	MYH11 (R867Q +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 138331	NM_002474.3(MYH11):c.2520+17A>G	MYH11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 774987	NM_002474.3(MYH11):c.2412-4C>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4	GLikely benign
Select item 36617	NM_002474.3(MYH11):c.2412-9C>A	MYH11	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 36616	NM_002474.3(MYH11):c.2208C>T (p.Ile736=)	MYH11	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 439929	NM_002474.3(MYH11):c.2181-39C>T	MYH11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 138329	NM_002474.3(MYH11):c.2079C>T (p.Phe693=)	MYH11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
Select item 201054	NM_002474.3(MYH11):c.2075C>T (p.Ala692Val)	MYH11 (A692V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138328	NM_002474.3(MYH11):c.2061C>T (p.Ser687=)	MYH11	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign
Select item 672356	NM_002474.3(MYH11):c.2058+96C>T	MYH11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 201024	NM_002474.3(MYH11):c.1732A>G (p.Ile578Val)	MYH11 (I578V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 381023	NM_002474.3(MYH11):c.1575+7G>A	MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 238257	NM_002474.3(MYH11):c.1574C>T (p.Pro525Leu)	MYH11 (P532L +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 201108	NM_002474.3(MYH11):c.1502G>A (p.Arg501His)	MYH11 (R501H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 993429	NM_002474.3(MYH11):c.1472T>C (p.Met491Thr)	MYH11 (M491T +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance

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