C0002949[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180522	NM_003036.4(SKI):c.1568C>T (p.Ser523Leu)	SKI (S523L)	Single nucleotide variant (missense variant)	Shprintzen-Goldberg syndrome +1 more	GLikely benign
Select item 180297	NM_000090.4(COL3A1):c.1869+6T>G	COL3A1	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 222628	NM_001999.4(FBN2):c.3295C>T (p.Arg1099Cys)	FBN2 (R1099C)	Single nucleotide variant (missense variant)	Arterial dissection	GUncertain significance
Select item 180458	NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser)	NOTCH1 (G841S)	Single nucleotide variant (missense variant)	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 180526	NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)	SMAD3 (V377I +3 more)	Single nucleotide variant (missense variant)	Aneurysm-osteoarthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 180367	NM_080473.5(GATA5):c.104C>T (p.Pro35Leu)	GATA5 (P35L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar