"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CYP2U1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1370994	NM_183075.3(CYP2U1):c.29C>A (p.Pro10Gln)	CYP2U1, CYP2U1-AS1 (P10Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 3379556	NM_183075.3(CYP2U1):c.104G>A (p.Gly35Asp)	CYP2U1, CYP2U1-AS1 (G35D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1040765	NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala)	CYP2U1, CYP2U1-AS1 (V69A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1163251	NM_183075.3(CYP2U1):c.452C>A (p.Pro151Gln)	CYP2U1, CYP2U1-AS1 +1 more (P151Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1163252	NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr)	CYP2U1 (I224T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 654685	NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr)	CYP2U1 (S335T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 695574	NM_183075.3(CYP2U1):c.1132G>A (p.Val378Ile)	CYP2U1 (V378I)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2682866	NM_183075.3(CYP2U1):c.1157T>C (p.Ile386Thr)	CYP2U1 (I386T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693884	NM_183075.3(CYP2U1):c.1289T>G (p.Val430Gly)	CYP2U1 (V430G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379557	NM_183075.3(CYP2U1):c.1631G>A (p.Arg544Lys)	CYP2U1 (R544K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance