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

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Items: 29

	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
Select item 1344274	NM_183075.3(CYP2U1):c.488A>T (p.Lys163Met)	CYP2U1, LOC129992929 (K163M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 242188	NM_183075.3(CYP2U1):c.490+6C>T	CYP2U1, LOC129992929	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign
Select item 653598	NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile)	CYP2U1 (V173I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 941886	NM_183075.3(CYP2U1):c.557G>A (p.Arg186His)	CYP2U1 (R186H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
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 1163252	NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr)	CYP2U1 (I224T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 512742	NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu)	CYP2U1 (F284L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 1344275	NM_183075.3(CYP2U1):c.888T>C (p.Ser296=)	CYP2U1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344276	NM_183075.3(CYP2U1):c.925C>T (p.Leu309=)	CYP2U1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 971906	NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln)	CYP2U1 (E327Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1344277	NM_183075.3(CYP2U1):c.986G>T (p.Arg329Met)	CYP2U1 (R329M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
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)	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 1344265	NM_183075.3(CYP2U1):c.1172C>T (p.Ala391Val)	CYP2U1 (A391V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344267	NM_183075.3(CYP2U1):c.1281G>T (p.Glu427Asp)	CYP2U1 (E427D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344268	NM_183075.3(CYP2U1):c.1288+1G>A	CYP2U1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia	GPathogenic
Select item 1344269	NM_183075.3(CYP2U1):c.1348C>A (p.His450Asn)	CYP2U1 (H450N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 571544	NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)	CYP2U1 (P459L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 39504	NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp)	CYP2U1 (R488W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1255216	NM_183075.3(CYP2U1):c.*31A>G	CYP2U1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +1 more	GBenign
Select item 1293053	NM_183075.3(CYP2U1):c.*132G>T	CYP2U1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +1 more	GBenign

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Items: 29