C1321551[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39783	NM_003036.4(SKI):c.101G>T (p.Gly34Val)	SKI (G34V)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GPathogenic
Select item 39786	NM_003036.4(SKI):c.103C>T (p.Pro35Ser)	SKI (P35S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 1028067	NM_003036.4(SKI):c.1006A>G (p.Thr336Ala)	SKI (T336A)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 1028068	NM_003036.4(SKI):c.1328C>T (p.Pro443Leu)	SKI (P443L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 1032105	NM_003036.4(SKI):c.2057C>A (p.Ala686Asp)	SKI (A686D)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 213710	NM_003036.4(SKI):c.2128T>C (p.Trp710Arg)	SKI (W710R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar