"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "TTPA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448840	NM_000370.3(TTPA):c.752C>T (p.Ser251Phe)	TTPA (S251F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 9140	NM_000370.3(TTPA):c.575G>A (p.Arg192His)	TTPA (R192H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2199030	NM_000370.3(TTPA):c.376G>A (p.Val126Ile)	TTPA (V165I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379822	NM_000370.3(TTPA):c.259C>G (p.Leu87Val)	TTPA (L87V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1712111	NM_000370.3(TTPA):c.184G>T (p.Asp62Tyr)	TTPA (D62Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 448838	NM_000370.3(TTPA):c.178G>A (p.Asp60Asn)	TTPA (D60N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 189186	NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	TTPA (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar