List of variants in gene CYP2U1 reported as uncertain significance for Spastic paraplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 98

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HGVS	dbSNP	gnomAD frequency
NM_183075.3(CYP2U1):c.1397G>A (p.Arg466Gln)	rs143952943	0.00054
NM_183075.3(CYP2U1):c.515C>T (p.Pro172Leu)	rs751459304	0.00014
NM_183075.3(CYP2U1):c.235C>G (p.Pro79Ala)	rs768868832	0.00011
NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu)	rs763896315	0.00011
NM_183075.3(CYP2U1):c.425A>T (p.Gln142Leu)	rs140010604	0.00011
NM_183075.3(CYP2U1):c.1414G>A (p.Gly472Arg)	rs147277678	0.00008
NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr)	rs139692261	0.00007
NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln)	rs767970725	0.00006
NM_183075.3(CYP2U1):c.1630A>T (p.Arg544Ter)	rs772136947	0.00005
NM_183075.3(CYP2U1):c.124C>T (p.Leu42Phe)	rs901277054	0.00004
NM_183075.3(CYP2U1):c.164G>A (p.Arg55Gln)	rs745929667	0.00004
NM_183075.3(CYP2U1):c.322G>A (p.Ala108Thr)	rs770267485	0.00004
NM_183075.3(CYP2U1):c.1106C>T (p.Ser369Leu)	rs141112404	0.00002
NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu)	rs201629689	0.00002
NM_183075.3(CYP2U1):c.719G>A (p.Arg240His)	rs145638445	0.00002
NM_183075.3(CYP2U1):c.1033A>G (p.Ile345Val)	rs771350413	0.00001
NM_183075.3(CYP2U1):c.1178C>T (p.Ser393Phe)	rs1374309961	0.00001
NM_183075.3(CYP2U1):c.1219A>G (p.Ile407Val)	rs1560702525	0.00001
NM_183075.3(CYP2U1):c.1323G>C (p.Leu441Phe)	rs770180255	0.00001
NM_183075.3(CYP2U1):c.1481A>G (p.Gln494Arg)	rs1036607521	0.00001
NM_183075.3(CYP2U1):c.200C>T (p.Pro67Leu)	rs1286338215	0.00001
NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala)	rs1467659782	0.00001
NM_183075.3(CYP2U1):c.267C>T (p.Ser89=)	rs1470602766	0.00001
NM_183075.3(CYP2U1):c.29C>A (p.Pro10Gln)	rs752252347	0.00001
NM_183075.3(CYP2U1):c.302T>C (p.Ile101Thr)	rs1053725607	0.00001
NM_183075.3(CYP2U1):c.317T>C (p.Leu106Pro)	rs1182340707	0.00001
NM_183075.3(CYP2U1):c.502G>A (p.Ala168Thr)	rs369682117	0.00001
NM_183075.3(CYP2U1):c.508T>C (p.Tyr170His)	rs1310829853	0.00001
NM_183075.3(CYP2U1):c.557G>A (p.Arg186His)	rs746319505	0.00001
NM_183075.3(CYP2U1):c.565G>C (p.Gly189Arg)	rs1401706343	0.00001
NC_000004.12:g.(?_107944960)_(107950433_?)dup
NM_183075.3(CYP2U1):c.1004G>A (p.Ser335Asn)	rs142944337
NM_183075.3(CYP2U1):c.107C>A (p.Ala36Glu)	rs1351893573
NM_183075.3(CYP2U1):c.1148A>G (p.Glu383Gly)
NM_183075.3(CYP2U1):c.1150A>G (p.Arg384Gly)
NM_183075.3(CYP2U1):c.1156A>G (p.Ile386Val)
NM_183075.3(CYP2U1):c.1169G>A (p.Arg390Gln)
NM_183075.3(CYP2U1):c.1174C>A (p.Pro392Thr)
NM_183075.3(CYP2U1):c.1184C>T (p.Thr395Ile)
NM_183075.3(CYP2U1):c.11C>T (p.Pro4Leu)
NM_183075.3(CYP2U1):c.1207A>C (p.Thr403Pro)
NM_183075.3(CYP2U1):c.1224G>A (p.Met408Ile)	rs1290682250
NM_183075.3(CYP2U1):c.1258G>A (p.Ala420Thr)	rs778851531
NM_183075.3(CYP2U1):c.1264C>G (p.Pro422Ala)	rs1733742814
NM_183075.3(CYP2U1):c.1270A>G (p.Met424Val)
NM_183075.3(CYP2U1):c.127G>C (p.Val43Leu)	rs1031064765
NM_183075.3(CYP2U1):c.128T>C (p.Val43Ala)
NM_183075.3(CYP2U1):c.1301A>G (p.Tyr434Cys)
NM_183075.3(CYP2U1):c.143G>T (p.Trp48Leu)
NM_183075.3(CYP2U1):c.1450G>A (p.Gly484Arg)
NM_183075.3(CYP2U1):c.1466T>C (p.Val489Ala)
NM_183075.3(CYP2U1):c.1473G>A (p.Met491Ile)
NM_183075.3(CYP2U1):c.1493T>C (p.Met498Thr)
NM_183075.3(CYP2U1):c.1517del (p.Ser506fs)
NM_183075.3(CYP2U1):c.1524G>T (p.Met508Ile)
NM_183075.3(CYP2U1):c.1527G>C (p.Gln509His)	rs2126203368
NM_183075.3(CYP2U1):c.154C>T (p.Arg52Trp)	rs1732990193
NM_183075.3(CYP2U1):c.155G>C (p.Arg52Pro)
NM_183075.3(CYP2U1):c.1567C>T (p.Leu523Phe)
NM_183075.3(CYP2U1):c.1585G>T (p.Gly529Cys)	rs1578736266
NM_183075.3(CYP2U1):c.1616T>A (p.Ile539Lys)
NM_183075.3(CYP2U1):c.213C>G (p.Asn71Lys)	rs2126188271
NM_183075.3(CYP2U1):c.235C>T (p.Pro79Ser)
NM_183075.3(CYP2U1):c.244C>T (p.Arg82Trp)	rs1476927058
NM_183075.3(CYP2U1):c.281C>T (p.Ala94Val)
NM_183075.3(CYP2U1):c.305G>T (p.Gly102Val)	rs2126188410
NM_183075.3(CYP2U1):c.313G>A (p.Val105Met)
NM_183075.3(CYP2U1):c.31_42dup (p.Ala11_Pro14dup)	rs1026306428
NM_183075.3(CYP2U1):c.340T>A (p.Tyr114Asn)	rs1733005836
NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del)	rs2126188525
NM_183075.3(CYP2U1):c.392_393delinsTT (p.Ser131Ile)
NM_183075.3(CYP2U1):c.412G>A (p.Glu138Lys)
NM_183075.3(CYP2U1):c.503C>T (p.Ala168Val)
NM_183075.3(CYP2U1):c.544C>G (p.His182Asp)
NM_183075.3(CYP2U1):c.551C>A (p.Thr184Asn)
NM_183075.3(CYP2U1):c.640G>A (p.Gly214Arg)	rs539068584
NM_183075.3(CYP2U1):c.64C>T (p.Arg22Cys)
NM_183075.3(CYP2U1):c.682G>A (p.Val228Ile)
NM_183075.3(CYP2U1):c.701C>T (p.Ser234Phe)	rs1370303971
NM_183075.3(CYP2U1):c.718C>T (p.Arg240Cys)
NM_183075.3(CYP2U1):c.734A>G (p.Asn245Ser)
NM_183075.3(CYP2U1):c.74T>C (p.Leu25Pro)
NM_183075.3(CYP2U1):c.767C>T (p.Ser256Leu)	rs377203075
NM_183075.3(CYP2U1):c.770G>A (p.Arg257Gln)
NM_183075.3(CYP2U1):c.784T>G (p.Cys262Gly)
NM_183075.3(CYP2U1):c.869T>A (p.Ile290Asn)	rs761095930
NM_183075.3(CYP2U1):c.890T>C (p.Phe297Ser)	rs1578728816
NM_183075.3(CYP2U1):c.899A>C (p.Lys300Thr)
NM_183075.3(CYP2U1):c.904A>T (p.Ile302Phe)
NM_183075.3(CYP2U1):c.923C>G (p.Ser308Cys)
NM_183075.3(CYP2U1):c.940C>T (p.Pro314Ser)
NM_183075.3(CYP2U1):c.950T>A (p.Phe317Tyr)	rs1733663700
NM_183075.3(CYP2U1):c.953T>C (p.Ile318Thr)
NM_183075.3(CYP2U1):c.956A>T (p.Asp319Val)
NM_183075.3(CYP2U1):c.958A>G (p.Met320Val)
NM_183075.3(CYP2U1):c.95C>T (p.Pro32Leu)	rs2126188056
NM_183075.3(CYP2U1):c.976G>A (p.Glu326Lys)
NM_183075.3(CYP2U1):c.98G>T (p.Ser33Ile)

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