C1268935[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262426	NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His)	ADAMTS13 (Q456H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 365546	NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)	ADAMTS13 (P457L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 5814	NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)	ADAMTS13 (P475S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 365555	NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)	ADAMTS13 (S903L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 802531	NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs)	ADAMTS13 (W955fs +1 more)	Duplication (frameshift variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 262445	NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His)	ADAMTS13 (R1096H +1 more)	Single nucleotide variant (missense variant +1 more)	ADAMTS13-related condition +2 more	GBenign

ClinVar