ClinVar for PMC (Select 129366) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262447	NM_139027.6(ADAMTS13):c.357C>T (p.Ser119=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 68803	NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr)	ADAMTS13 (C508Y +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 5814	NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)	ADAMTS13 (P475S +1 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 5813	NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A]	ADAMTS13 (C508Y +3 more)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5812	NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro)	ADAMTS13, LOC130002910 (R268P)	Single nucleotide variant (missense variant)	Upshaw-Schulman syndrome	GPathogenic
Select item 5811	NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter)	ADAMTS13 (Q449* +1 more)	Single nucleotide variant (nonsense)	Upshaw-Schulman syndrome	GPathogenic

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