ClinVar for MedGen (Select 1794251) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805110	NM_005901.6(SMAD2):c.748_754del (p.Ser250fs)	SMAD2 (S220fs +1 more)	Deletion (frameshift variant)	Loeys-Dietz syndrome 6	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 1722766	NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)	SMAD2 (S323R +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GLikely pathogenic
Select item 1685446	NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg)	SMAD2 (T273R +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6	GLikely pathogenic
Select item 1521943	NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys)	SMAD2 (R462C +1 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 6 +1 more	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 1327537	NM_005901.6(SMAD2):c.612dup (p.Asn205Ter)	SMAD2 (N175* +1 more)	Duplication (nonsense)	SMAD2-related condition	GLikely pathogenic
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 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 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 787466	NM_005901.6(SMAD2):c.828G>A (p.Ser276=)	SMAD2	Single nucleotide variant (synonymous variant)	Loeys-Dietz syndrome 6 +4 more	GBenign