"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143945	NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)	TGFB3 (R300Q)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GPathogenic
Select item 239524	NM_003239.5(TGFB3):c.873G>A (p.Pro291=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GLikely benign
Select item 239522	NM_003239.5(TGFB3):c.744C>A (p.Ile248=)	TGFB3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 191778	NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)	TGFB3 (G187S)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 239520	NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)	TGFB3 (S138A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 416059	NM_003239.5(TGFB3):c.288C>T (p.Thr96=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign

ClinVar