C0796081[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 185866	NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	SMAD4 (I179V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GUncertain significance
Select item 136077	NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	SMAD4 (Q224L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GConflicting classifications of pathogenicity
Select item 182870	NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)	SMAD4 (N306S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 142165	NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)	SMAD4 (N369S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 460530	NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SMAD4 (V407L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +7 more	GConflicting classifications of pathogenicity
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

ClinVar