C1858712[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1362423	NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys)	KIF5A (R51C)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 10 +2 more	GUncertain significance
Select item 1709386	NM_004984.4(KIF5A):c.217G>A (p.Asp73Asn)	KIF5A (D73N)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 1709887	NM_004984.4(KIF5A):c.259C>G (p.Gln87Glu)	KIF5A (Q87E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 1709701	NM_004984.4(KIF5A):c.501+2T>C	KIF5A	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 1709015	NM_004984.4(KIF5A):c.865C>T (p.Gln289Ter)	KIF5A (Q200* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 10	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

ClinVar