C1851504[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1804129	NM_002474.3(MYH11):c.4578+1del	MYH11, NDE1	Deletion (intron variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely pathogenic
Select item 975938	NM_002474.3(MYH11):c.4121C>T (p.Ser1374Phe)	MYH11, NDE1 (S1374F +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 180420	NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	MYH11 (K1263del +1 more)	Microsatellite (inframe_deletion)	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 982843	NM_002474.3(MYH11):c.1241A>G (p.Lys414Arg)	MYH11 (K414R +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 629818	NM_002474.3(MYH11):c.1181G>A (p.Arg394Lys)	MYH11 (R394K +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 983143	NM_002474.3(MYH11):c.898C>G (p.Leu300Val)	MYH11 (L300V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4	GUncertain significance
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