Related gene-specific medical variations for Gene (Select 4087) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341131	NM_005901.6(SMAD2):c.1045T>C (p.Cys349Arg)	SMAD2 (C319R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3237537	NM_005901.6(SMAD2):c.544dup (p.Arg182fs)	SMAD2 (R152fs +1 more)	Duplication (frameshift variant)	Congenital heart defects, multiple types, 8, with or without heterotaxy	GPathogenic
Select item 1803705	NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu)	SMAD2 (G303E +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GUncertain significance
Select item 1342376	NM_005901.6(SMAD2):c.634C>G (p.Pro212Ala)	SMAD2 (P182A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816012	GRCh37/hg19 18q21.1(chr18:44867535-45445398)x3	SMAD2	Copy number gain	not provided	GUncertain significance
Select item 135629	NM_005901.6(SMAD2):c.997+1G>A	SMAD2	Single nucleotide variant (splice donor variant)	not provided	Gnot provided

ClinVar