"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MYH11"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 201037	NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)	MYH11, NDE1 (V1759I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 1488224	NM_002474.3(MYH11):c.4933A>C (p.Lys1645Gln)	MYH11, NDE1 (K1652Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 580843	NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del)	MYH11, NDE1 (K1628del +1 more)	Microsatellite (inframe_deletion +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 519925	NM_002474.3(MYH11):c.4747C>T (p.Arg1583Trp)	MYH11, NDE1 (R1583W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 645057	NM_002474.3(MYH11):c.4480G>A (p.Glu1494Lys)	MYH11, NDE1 (E1501K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 201076	NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)	MYH11, NDE1 (A1468V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 374961	NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln)	MYH11, NDE1 (R1352Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 201067	NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val)	MYH11 (A1276V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1015442	NM_002474.3(MYH11):c.3746A>T (p.Glu1249Val)	MYH11 (E1249V +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 534151	NM_002474.3(MYH11):c.3721C>T (p.Arg1241Trp)	MYH11 (R1248W +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +4 more	GUncertain significance
Select item 3380374	NM_002474.3(MYH11):c.3705C>A (p.Asp1235Glu)	MYH11 (D1235E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201061	NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)	MYH11	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 840805	NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr)	MYH11 (A1079T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 2683347	NM_002474.3(MYH11):c.3071A>C (p.Asn1024Thr)	MYH11 (N1024T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 263472	NM_002474.3(MYH11):c.2000C>T (p.Thr667Met)	MYH11 (T667M +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 519949	NM_002474.3(MYH11):c.1055C>T (p.Ser352Leu)	MYH11 (S352L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 201048	NM_002474.3(MYH11):c.988G>A (p.Val330Met)	MYH11 (V330M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1120152	Single allele	MYH11, NDE1	Duplication	not provided	GUncertain significance

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Items: 20