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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627252	NM_000361.3(THBD):c.1611C>A (p.Cys537Ter)	THBD (C537*)	Single nucleotide variant (nonsense)	Abnormal bleeding	GLikely pathogenic
Select item 627170	NM_000361.3(THBD):c.1487del (p.Pro496fs)	THBD (P496fs)	Deletion (frameshift variant)	Abnormal bleeding	GLikely pathogenic
Select item 627236	NM_000361.3(THBD):c.1433C>T (p.Thr478Ile)	THBD (T478I)	Single nucleotide variant (missense variant)	Abnormal bleeding	GUncertain significance
Select item 626991	NM_000361.3(THBD):c.1357G>A (p.Gly453Arg)	THBD (G453R)	Single nucleotide variant (missense variant)	Abnormal bleeding	GUncertain significance
Select item 627381	NM_000361.3(THBD):c.778C>G (p.Pro260Ala)	THBD (P260A)	Single nucleotide variant (missense variant)	Abnormal bleeding	GUncertain significance
Select item 627282	NM_000361.3(THBD):c.245del (p.Gly82fs)	THBD (G82fs)	Deletion (frameshift variant)	Abnormal thrombosis +1 more	GLikely pathogenic

ClinVar