C2752036[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12720	NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)	THBD (P495S)	Single nucleotide variant (missense variant)	THBD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 12714	NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)	THBD (D486Y)	Single nucleotide variant (missense variant)	Kidney disorder +4 more	GBenign
Select item 337883	NM_000361.3(THBD):c.1418C>T (p.Ala473Val)	THBD (A473V)	Single nucleotide variant (missense variant)	THBD-related condition +3 more	GBenign
Select item 12719	NM_000361.3(THBD):c.158A>G (p.Asp53Gly)	THBD (D53G)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with thrombomodulin anomaly	Grisk factor
Select item 12718	NM_000361.3(THBD):c.127G>A (p.Ala43Thr)	THBD (A43T)	Single nucleotide variant (missense variant)	THBD-related condition +4 more	GConflicting classifications of pathogenicity
Select item 139519	NM_000361.3(THBD):c.-151G>T	THBD	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign

ClinVar