ClinVar for MedGen (Select 362) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297020	NM_018676.4(THSD1):c.1051C>T (p.Gln351Ter)	THSD1 (Q351*)	Single nucleotide variant (nonsense +1 more)	Aortic aneurysm	GUncertain significance
Select item 1172631	NM_005902.4(SMAD3):c.1A>G (p.Met1Val)	LOC130057352, SMAD3 (M1V)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm	GPathogenic
Select item 996699	NM_005744.5(ARIH1):c.131A>G (p.Glu44Gly)	ARIH1 (E44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996698	NM_005744.5(ARIH1):c.511C>T (p.Arg171Ter)	ARIH1 (R171*)	Single nucleotide variant (nonsense)	Aortic aneurysm	Gassociation
Select item 996563	NM_005744.5(ARIH1):c.43G>C (p.Glu15Gln)	ARIH1, LOC130057478 (E15Q)	Single nucleotide variant (missense variant)	Aortic aneurysm	Gassociation
Select item 568701	NM_000138.5(FBN1):c.1900T>C (p.Ser634Pro)	FBN1 (S634P)	Single nucleotide variant (missense variant)	Lens luxation +6 more	GConflicting classifications of pathogenicity
Select item 213840	NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)	TGFB2 (P119L +1 more)	Single nucleotide variant (missense variant +1 more)	TGFB2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +11 more	GPathogenic/Likely pathogenic
Select item 161318	NM_002474.3(MYH11):c.4942C>T (p.Arg1648Cys)	NDE1, MYH11 (R1655C +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GUncertain significance
Select item 161216	NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe)	COL3A1 (L169F)	Single nucleotide variant (missense variant)	Aortic aneurysm +5 more	GConflicting classifications of pathogenicity