"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TTPA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9136	NM_000370.3(TTPA):c.744del (p.Glu249fs)	TTPA (E249fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1027489	NM_000370.3(TTPA):c.553-1G>T	TTPA	Single nucleotide variant (intron variant +1 more)	Familial isolated deficiency of vitamin E	GPathogenic
Select item 374211	NM_000370.3(TTPA):c.552G>A (p.Thr184=)	TTPA	Single nucleotide variant (synonymous variant)	Familial isolated deficiency of vitamin E +1 more	GPathogenic/Likely pathogenic
Select item 188951	NM_000370.3(TTPA):c.487del (p.Trp163fs)	TTPA (W163fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 363561	NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)	TTPA (R151Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 65592	NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)	TTPA (E141K)	Single nucleotide variant (missense variant)	Familial isolated deficiency of vitamin E	GConflicting classifications of pathogenicity
Select item 286666	NM_000370.3(TTPA):c.48G>A (p.Ala16=)	TTPA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

ClinVar