C3496228[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129027	NM_024306.5(FA2H):c.1039+8T>C	FA2H	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 35 +3 more	GBenign
Select item 129033	NM_024306.5(FA2H):c.933T>C (p.Tyr311=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign
Select item 129032	NM_024306.5(FA2H):c.888A>G (p.Val296=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign
Select item 129031	NM_024306.5(FA2H):c.879C>T (p.Pro293=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35 +3 more	GBenign
Select item 129029	NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)	FA2H (P97A)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 129028	NM_024306.5(FA2H):c.229C>T (p.Leu77=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign

ClinVar