"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CYP2U1"[ge - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 695323	NM_183075.3(CYP2U1):c.10C>T (p.Pro4Ser)	CYP2U1, CYP2U1-AS1 (P4S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign
Select item 2655012	NM_183075.3(CYP2U1):c.117A>T (p.Leu39=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655013	NM_183075.3(CYP2U1):c.126C>G (p.Leu42=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 696011	NM_183075.3(CYP2U1):c.396C>T (p.Asp132=)	CYP2U1, CYP2U1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1176037	NM_183075.3(CYP2U1):c.453G>C (p.Pro151=)	CYP2U1, CYP2U1-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 374540	NM_183075.3(CYP2U1):c.555del (p.Arg186fs)	CYP2U1 (R186fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 695684	NM_183075.3(CYP2U1):c.639C>T (p.His213=)	CYP2U1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1393168	NM_183075.3(CYP2U1):c.681C>T (p.Ala227=)	CYP2U1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2655014	NM_183075.3(CYP2U1):c.740A>T (p.Glu247Val)	CYP2U1 (E247V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701472	NM_183075.3(CYP2U1):c.769C>T (p.Arg257Ter)	CYP2U1 (R257*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 56 +1 more	GConflicting classifications of pathogenicity
Select item 512742	NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu)	CYP2U1 (F284L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1576004	NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr)	CYP2U1 (I290T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 39500	NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val)	CYP2U1 (D316V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 56 +2 more	GPathogenic/Likely pathogenic
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 695859	NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=)	CYP2U1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
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
Select item 1616721	NM_183075.3(CYP2U1):c.1161C>T (p.Gly387=)	CYP2U1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 510917	NM_183075.3(CYP2U1):c.1377G>A (p.Pro459=)	CYP2U1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 374541	NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter)	CYP2U1 (R466*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 572643	NM_183075.3(CYP2U1):c.1630A>T (p.Arg544Ter)	CYP2U1 (R544*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic

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Items: 22