"MGZ Medical Genetics Center"[submitter] AND "CYP2U1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709880	NM_183075.3(CYP2U1):c.640G>T (p.Gly214Ter)	CYP2U1 (G214*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 56	GLikely pathogenic
Select item 864580	NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu)	CYP2U1 (P418L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56 +1 more	GUncertain significance