C0037772[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723186	NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)	SPAST (R391S +3 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely pathogenic
Select item 689577	NM_014855.3(AP5Z1):c.1312-19C>T	AP5Z1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 48	GBenign
Select item 689575	NM_000399.5(EGR2):c.152T>C (p.Met51Thr)	EGR2 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 560372	NM_001385875.1(ZFYVE27):c.415C>T (p.Arg139Cys)	ZFYVE27 (R139C +6 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia	GUncertain significance
Select item 560370	NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)	KIF5A (N997I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 689580	NM_014363.6(SACS):c.2775_2776del (p.Phe927fs)	SACS (F780fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia	GPathogenic
Select item 689576	NM_003119.4(SPG7):c.1779+5G>C	SPG7	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance

ClinVar