"SMAD2-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3031308	NM_005901.6(SMAD2):c.1304C>G (p.Pro435Arg)	SMAD2 (P405R +1 more)	Single nucleotide variant (missense variant)	SMAD2-related condition	GUncertain significance
Select item 1180990	NM_005901.6(SMAD2):c.972G>A (p.Thr324=)	SMAD2	Single nucleotide variant (synonymous variant)	SMAD2-related condition +2 more	GBenign/Likely benign
Select item 1629157	NM_005901.6(SMAD2):c.785-8T>G	SMAD2	Single nucleotide variant (intron variant)	SMAD2-related condition +1 more	GLikely benign
Select item 1202392	NM_005901.6(SMAD2):c.785-9C>A	SMAD2	Single nucleotide variant (intron variant)	SMAD2-related condition +1 more	GLikely benign
Select item 1591136	NM_005901.6(SMAD2):c.730+10del	SMAD2	Deletion (intron variant)	SMAD2-related condition +1 more	GBenign/Likely benign
Select item 1623542	NM_005901.6(SMAD2):c.705A>G (p.Gln235=)	SMAD2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1327537	NM_005901.6(SMAD2):c.612dup (p.Asn205Ter)	SMAD2 (N175* +1 more)	Duplication (nonsense)	SMAD2-related condition	GLikely pathogenic
Select item 1196030	NM_005901.6(SMAD2):c.579G>A (p.Leu193=)	SMAD2	Single nucleotide variant (synonymous variant)	SMAD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2633569	NM_005901.6(SMAD2):c.398G>A (p.Arg133His)	SMAD2 (R103H +1 more)	Single nucleotide variant (missense variant)	SMAD2-related condition	GUncertain significance
Select item 2967124	NM_005901.6(SMAD2):c.327-8C>G	SMAD2	Single nucleotide variant (intron variant)	SMAD2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1764720	NM_005901.6(SMAD2):c.87C>T (p.Gly29=)	SMAD2	Single nucleotide variant (synonymous variant)	SMAD2-related condition +2 more	GLikely benign