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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5671	NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)	SPAST (S44L)	Single nucleotide variant (missense variant)	SPAST-related disorder +5 more	GBenign/Likely benign; other; risk factor
Select item 507011	NM_014946.4(SPAST):c.415+12G>A	SPAST	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 335829	NM_014946.4(SPAST):c.484G>A (p.Val162Ile)	SPAST (V162I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 448455	NM_014946.4(SPAST):c.832G>A (p.Val278Met)	SPAST (V278M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 448442	NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)	SPAST (S399L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 4 +1 more	GPathogenic/Likely pathogenic
Select item 1344054	NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)	SPAST (E479D +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 217004	NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	SPAST (R562Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 4 +3 more	GPathogenic/Likely pathogenic

ClinVar