"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982595	NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys)	SMAD3 (E102K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 213803	NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)	SMAD3 (T132A +2 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +2 more	GUncertain significance
Select item 213782	NM_005902.4(SMAD3):c.401-6G>A	SMAD3	Single nucleotide variant (intron variant)	Aneurysm-osteoarthritis syndrome +2 more	GPathogenic/Likely pathogenic
Select item 213758	NM_005902.4(SMAD3):c.457C>T (p.Leu153=)	SMAD3	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome +4 more	GBenign/Likely benign
Select item 139212	NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)	SMAD3 (I170V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1328502	NM_005902.4(SMAD3):c.1151A>G (p.Tyr384Cys)	SMAD3 (Y189C +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance

ClinVar