"CYP2U1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 966221	NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu)	CYP2U1, CYP2U1-AS1 (S2L)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 3053149	NM_183075.3(CYP2U1):c.229C>T (p.Leu77=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	CYP2U1-related disorder	GLikely benign
Select item 2632491	NM_183075.3(CYP2U1):c.534G>C (p.Arg178Ser)	CYP2U1 (R178S)	Single nucleotide variant (missense variant)	CYP2U1-related disorder	GUncertain significance
Select item 2859793	NM_183075.3(CYP2U1):c.737G>C (p.Ser246Thr)	CYP2U1 (S246T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 458309	NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser)	CYP2U1 (N331S)	Single nucleotide variant (missense variant)	CYP2U1-related disorder +3 more	GBenign/Likely benign
Select item 582218	NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs)	CYP2U1 (R384fs)	Microsatellite (frameshift variant)	CYP2U1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 458307	NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile)	CYP2U1 (R384I)	Single nucleotide variant (missense variant)	CYP2U1-related disorder +3 more	GBenign/Likely benign

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