"Baylor Genetics"[submitter] AND "TBX5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518540	NM_181486.4(TBX5):c.781A>T (p.Ser261Cys)	TBX5 (S261C +1 more)	Single nucleotide variant (missense variant)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 1032249	NM_181486.4(TBX5):c.704G>A (p.Gly235Glu)	TBX5 (G185E +1 more)	Single nucleotide variant (missense variant)	Holt-Oram syndrome	GLikely pathogenic
Select item 7999	NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter)	TBX5 (Y136* +1 more)	Single nucleotide variant (nonsense)	TBX5-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1032248	NM_181486.4(TBX5):c.362+1G>A	TBX5	Single nucleotide variant (splice donor variant)	Holt-Oram syndrome	GPathogenic
Select item 1030662	NM_181486.4(TBX5):c.337A>T (p.Arg113Ter)	TBX5 (R113* +1 more)	Single nucleotide variant (nonsense)	Holt-Oram syndrome	GPathogenic
Select item 519312	NM_181486.4(TBX5):c.38C>A (p.Thr13Lys)	TBX5 (T13K)	Single nucleotide variant (missense variant +1 more)	Aortic valve disease 2 +2 more	GUncertain significance
Select item 625740	GRCh37/hg19 12q24.21(chr12:114791609-114793234)	TBX5	Copy number loss	Holt-Oram syndrome	GPathogenic

ClinVar