"GeneReviews"[submitter] AND "TGFB1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12528	NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)	TGFB1 (C225R)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GPathogenic
Select item 38900	NM_000660.7(TGFB1):c.664C>G (p.His222Asp)	TGFB1 (H222D)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	Gnot provided
Select item 12529	NM_000660.7(TGFB1):c.653G>A (p.Arg218His)	TGFB1 (R218H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 12531	NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)	TGFB1 (R218C)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia +2 more	GPathogenic
Select item 12532	NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)	LOC130064510, TGFB1 (Y81H)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GPathogenic
Select item 38892	NM_000660.7(TGFB1):c.30GCT[6] (p.Leu11_Leu13dup)	TGFB1	Microsatellite (inframe_insertion)	not provided	GUncertain significance

ClinVar