C4707243[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 213936	NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn)	TGFBR2 (D522N +10 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 267292	NM_002317.7(LOX):c.125G>A (p.Trp42Ter)	LOX, SRFBP1 (W42*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 625133	NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)	TGFBR1 (G192D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 625134	NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	TGFBR1 (L486S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +12 more	GPathogenic/Likely pathogenic
Select item 625127	NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)	FBN1 (C2528R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 373743	NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)	FBN1 (R1832H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 625123	NM_000138.5(FBN1):c.5066-1G>A	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome +1 more	GPathogenic
Select item 549195	NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)	FBN1 (G1313S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 200022	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	FBN1 (D1238N)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenicFDA Recognized database
Select item 527177	NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)	FBN1 (Y1004*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 42300	NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)	FBN1 (C748R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 431982	NM_000138.5(FBN1):c.1570dup (p.Thr524fs)	FBN1 (T524fs)	Duplication (frameshift variant)	Marfan syndrome +2 more	GPathogenic
Select item 16461	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	FBN1 (R240C)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 2 +10 more	GPathogenic/Likely pathogenic
Select item 199956	NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	FBN1 (G214S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 625130	NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs)	SMAD3 (F143fs +3 more)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 213766	NM_005902.4(SMAD3):c.803G>A (p.Arg268His)	SMAD3 (R268H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 625131	NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)	SMAD3 (V283E +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 625132	NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly)	SMAD3 (E284G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 264500	NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)	SMAD3 (Y364C +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
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

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Items: 21