"3billion"[submitter] AND "SMAD4"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 88673	NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SMAD4 (R496C)	Single nucleotide variant (missense variant)	Myhre syndrome +7 more	GConflicting classifications of pathogenicity
Select item 30150	NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4 (I500V)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +9 more	GPathogenic
Select item 30149	NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	SMAD4 (I500T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

Format

Sort by

Choose Destination

ClinVar