ClinVar for MedGen (Select 1794252) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327536	NM_005901.6(SMAD2):c.237-12A>G	SMAD2	Single nucleotide variant (intron variant)	Congenital heart defects, multiple types, 8, with or without heterotaxy	GPathogenic
Select item 787466	NM_005901.6(SMAD2):c.828G>A (p.Ser276=)	SMAD2	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 6 +4 more	GBenign
Select item 419441	NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter)	SMAD2 (E159* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 208683	NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser)	SMAD2 (C282S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 135628	NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys)	SMAD2 (W244C +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 8, with or without heterotaxy	GPathogenic
Select item 56824	NM_005901.6(SMAD2):c.784+1G>A	SMAD2	Single nucleotide variant (splice donor variant)	Congenital heart defects, multiple types, 8, with or without heterotaxy	GPathogenic

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