"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695845	NM_183075.3(CYP2U1):c.60C>T (p.Leu20=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344266	NM_183075.3(CYP2U1):c.118T>C (p.Cys40Arg)	CYP2U1, CYP2U1-AS1 (C40R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344271	NM_183075.3(CYP2U1):c.209G>A (p.Gly70Asp)	CYP2U1, CYP2U1-AS1 (G70D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 409955	NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu)	CYP2U1, CYP2U1-AS1 (P103L)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1068252	NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser)	CYP2U1, CYP2U1-AS1 (G115S)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 1344272	NM_183075.3(CYP2U1):c.360C>G (p.Phe120Leu)	CYP2U1, CYP2U1-AS1 (F120L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344273	NM_183075.3(CYP2U1):c.426G>T (p.Gln142His)	CYP2U1, CYP2U1-AS1 (Q142H)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance

ClinVar