ClinVar for MedGen (Select 4268) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1417381	NM_000660.7(TGFB1):c.32T>A (p.Leu11Gln)	TGFB1 (L11Q)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia +4 more	GUncertain significance
Select item 978501	NM_000660.7(TGFB1):c.355+5G>A	LOC130064510, TGFB1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 805882	NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe)	LRP5 (L540F)	Single nucleotide variant (5 prime UTR variant +1 more)	Diaphyseal dysplasia +6 more	GUncertain significance
Select item 803561	NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)	TGFB1 (Y171C)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GLikely pathogenic
Select item 803560	NM_000660.7(TGFB1):c.712G>A (p.Gly238Arg)	TGFB1 (G238R)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GUncertain significance
Select item 634551	NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg)	TGFB1 (W179R)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GUncertain significance
Select item 256753	NM_000660.7(TGFB1):c.861-20C>T	TGFB1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
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 38892	NM_000660.7(TGFB1):c.30GCT[6] (p.Leu11_Leu13dup)	TGFB1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 12534	NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu)	TGFB1 (P10L)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy +4 more	GBenign
Select item 12533	NM_000660.7(TGFB1):c.667T>C (p.Cys223Arg)	TGFB1 (C223R)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	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 12531	NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)	TGFB1 (R218C)	Single nucleotide variant (missense variant)	See cases +2 more	GPathogenic
Select item 12530	NM_000660.7(TGFB1):c.667T>G (p.Cys223Gly)	TGFB1 (C223G)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GPathogenic
Select item 12529	NM_000660.7(TGFB1):c.653G>A (p.Arg218His)	TGFB1 (R218H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 12528	NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)	TGFB1 (C225R)	Single nucleotide variant (missense variant)	Diaphyseal dysplasia	GPathogenic