"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812874	NM_001321120.2(TBX4):c.40_49del (p.Phe14fs)	TBX4 (F14fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812875	NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter)	TBX4 (G41*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812876	NM_001321120.2(TBX4):c.885dup (p.Thr296fs)	TBX4 (T296fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812877	NM_001321120.2(TBX4):c.972del (p.Thr326fs)	TBX4 (T326fs)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812878	NM_001321120.2(TBX4):c.1001_1004dup (p.His335fs)	TBX4 (H335fs)	Duplication (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812879	NM_001321120.2(TBX4):c.1011_1012delinsTT (p.Lys338Ter)	TBX4 (K338*)	Indel (nonsense)	Pulmonary arterial hypertension	GLikely pathogenic
Select item 812880	NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)	TBX4 (P373fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 812881	NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs)	TBX4 (T387fs +1 more)	Deletion (frameshift variant)	Pulmonary arterial hypertension	GLikely pathogenic

ClinVar