ClinVar for MedGen (Select 91038) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236333	NM_001009944.3(PKD1):c.6952C>T (p.Arg2318Cys)	PKD1 (R2318C)	Single nucleotide variant (missense variant)	Congenital aneurysm of ascending aorta	GUncertain significance
Select item 3236332	NM_001844.5(COL2A1):c.3144A>T (p.Arg1048Ser)	COL2A1 (R1048S +1 more)	Single nucleotide variant (missense variant)	Congenital aneurysm of ascending aorta	GUncertain significance
Select item 2502897	XM_005247492.1:c.2736delG	MYLK	Deletion	Congenital aneurysm of ascending aorta	GLikely pathogenic
Select item 2078909	NM_005902.4(SMAD3):c.271C>T (p.Leu91=)	SMAD3	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 636991	NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr)	ACTA2 (I36T)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +3 more	GUncertain significance
Select item 617875	NM_000138.5(FBN1):c.2207A>G (p.Asn736Ser)	FBN1 (N736S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 617874	NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	FBN1 (G1143D)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 617873	NM_000138.5(FBN1):c.8121C>A (p.Asp2707Glu)	FBN1 (D2707E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 617872	NM_000138.5(FBN1):c.6596G>A (p.Gly2199Asp)	FBN1 (G2199D)	Single nucleotide variant (missense variant)	FBN1-related disorder	GUncertain significance
Select item 617871	NM_000138.5(FBN1):c.6866G>T (p.Cys2289Phe)	FBN1 (C2289F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 617870	NM_000138.5(FBN1):c.813C>G (p.Cys271Trp)	FBN1 (C271W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 617854	NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu)	FOXE3, LINC01389 (P202L)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 617853	NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)	FOXE3, LINC01389 (P112S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 617852	NM_012186.3(FOXE3):c.466G>A (p.Asp156Asn)	FOXE3, LINC01389 (D156N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 617851	NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser)	FOXE3, LINC01389 (R164S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +1 more	GUncertain significance
Select item 617850	NM_002317.7(LOX):c.460C>T (p.Leu154Phe)	LOX, SRFBP1 (L154F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 617849	NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)	LOX, SRFBP1 (S348R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617848	NM_002317.7(LOX):c.743C>T (p.Thr248Ile)	LOX, SRFBP1 (T248I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 617847	NM_002317.7(LOX):c.604G>T (p.Gly202Ter)	LOX, SRFBP1 (G202*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 549890	NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg)	COL3A1 (G633R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 549889	NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter)	SMAD3 (E239* +3 more)	Single nucleotide variant (nonsense)	Congenital aneurysm of ascending aorta	Grisk factor
Select item 521345	NM_002317.7(LOX):c.235G>A (p.Ala79Thr)	LOX, SRFBP1 (A79T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 496662	NM_053025.4(MYLK):c.1955C>G (p.Pro652Arg)	MYLK (P652R +2 more)	Single nucleotide variant (missense variant)	Congenital aneurysm of ascending aorta +3 more	GUncertain significance
Select item 496657	NM_002474.3(MYH11):c.2222T>C (p.Met741Thr)	MYH11 (M748T +1 more)	Single nucleotide variant (missense variant)	Congenital aneurysm of ascending aorta	GUncertain significance
Select item 439701	NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter)	FBN1 (C2552*)	Single nucleotide variant (nonsense)	Marfan syndrome +2 more	GPathogenic
Select item 375862	NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr)	MYH11, NDE1 (A1733T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 375854	NM_002474.3(MYH11):c.4396A>C (p.Lys1466Gln)	MYH11, NDE1 (K1473Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 375652	NM_012186.3(FOXE3):c.410G>A (p.Gly137Asp)	FOXE3, LINC01389 (G137D)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 11, susceptibility to +2 more	GLikely pathogenic; risk factor
Select item 375651	NM_012186.3(FOXE3):c.457G>C (p.Asp153His)	FOXE3, LINC01389 (D153H)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis +2 more	GConflicting classifications of pathogenicity
Select item 372955	NM_002474.3(MYH11):c.2297G>A (p.Ser766Asn)	MYH11 (S766N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GUncertain significance
Select item 267293	NM_002317.7(LOX):c.800A>C (p.Gln267Pro)	SRFBP1, LOX (Q267P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital aneurysm of ascending aorta +2 more	GPathogenic
Select item 267292	NM_002317.7(LOX):c.125G>A (p.Trp42Ter)	SRFBP1, LOX (W42*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 267291	NM_002317.7(LOX):c.839G>T (p.Ser280Ile)	SRFBP1, LOX (S280I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital aneurysm of ascending aorta +2 more	GPathogenic
Select item 264197	NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu)	FBN1 (P698L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 263911	NM_053025.4(MYLK):c.399G>T (p.Gln133His)	MYLK (Q133H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 213915	NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)	TGFBR2 (C138G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GPathogenic
Select item 180420	NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	MYH11 (K1263del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 161394	NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)	TGFBR2 (S578T +10 more)	Single nucleotide variant (missense variant)	not provided +7 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)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 161235	NM_000138.5(FBN1):c.3797A>T (p.Tyr1266Phe)	FBN1 (Y1266F)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 44651	NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)	TGFBR2 (V387M +8 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 6 +8 more	GConflicting classifications of pathogenicity
Select item 42355	NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)	FBN1, LOC126862124 (P1424A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +12 more	GConflicting classifications of pathogenicity
Select item 42296	NM_000138.5(FBN1):c.185G>A (p.Arg62His)	FBN1 (R62H)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 36076	NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)	FBN1 (N1489K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database

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Items: 46