C5562041[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327531	NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg)	SMAD2 (G457R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1327530	NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser)	SMAD2 (L449S +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GPathogenic
Select item 1327533	NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg)	SMAD2 (Q388R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327538	NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr)	SMAD2 (N331T)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GPathogenic
Select item 1327534	NM_005901.6(SMAD2):c.833C>T (p.Ala278Val)	SMAD2 (A278V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1327537	NM_005901.6(SMAD2):c.612dup (p.Asn205Ter)	SMAD2 (N175* +1 more)	Duplication (nonsense)	SMAD2-related condition	GLikely pathogenic

ClinVar