C3151087[trait identifier] AND "Genetics Department, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 694381	NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup)	SMAD3	Microsatellite (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome	GPathogenic
Select item 694382	NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu)	SMAD3 (A7L +2 more)	Indel (missense variant)	Aneurysm-osteoarthritis syndrome	GLikely pathogenic
Select item 694384	NM_005902.4(SMAD3):c.668del (p.Pro223fs)	SMAD3 (P118fs +3 more)	Deletion (frameshift variant)	Aneurysm-osteoarthritis syndrome	GPathogenic
Select item 694380	NM_005902.4(SMAD3):c.736del (p.Glu246fs)	SMAD3 (E141fs +3 more)	Deletion (frameshift variant)	Aneurysm-osteoarthritis syndrome	GPathogenic
Select item 30314	NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu)	SMAD3 (P263L +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 694383	NM_005902.4(SMAD3):c.874del (p.Arg292fs)	SMAD3 (R187fs +3 more)	Deletion (frameshift variant)	Aneurysm-osteoarthritis syndrome	GPathogenic
Select item 694385	NM_005902.4(SMAD3):c.991G>T (p.Val331Phe)	SMAD3 (V136F +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GLikely pathogenic
Select item 263520	NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)	SMAD3 (R385G +3 more)	Single nucleotide variant (missense variant)	See cases +3 more	GConflicting classifications of pathogenicity

ClinVar