"Blueprint Genetics"[submitter] AND "TGFB3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180537	NM_003239.5(TGFB3):c.*513A>G	TGFB3	Single nucleotide variant (3 prime UTR variant)	Collapse (finding) +1 more	GUncertain significance
Select item 203490	NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp)	TGFB3 (R300W)	Single nucleotide variant (missense variant)	Rienhoff syndrome +2 more	GPathogenic/Likely pathogenic
Select item 314449	NM_003239.5(TGFB3):c.646+13T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome +2 more	GConflicting classifications of pathogenicity
Select item 410272	NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser)	TGFB3 (I186S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 222835	NM_003239.5(TGFB3):c.521T>A (p.Leu174His)	TGFB3 (L174H)	Single nucleotide variant (missense variant)	Rienhoff syndrome +3 more	GUncertain significance
Select item 636371	NM_003239.5(TGFB3):c.514C>T (p.Gln172Ter)	TGFB3 (Q172*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

ClinVar