CYP2U1 (cytochrome P450 family 2 subfamily U member 1) - Rat Genome Database

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Pathways
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Gene: CYP2U1 (cytochrome P450 family 2 subfamily U member 1) Homo sapiens
Analyze
Symbol: CYP2U1
Name: cytochrome P450 family 2 subfamily U member 1
RGD ID: 1319774
HGNC Page HGNC:20582
Description: Enables arachidonic acid omega-hydroxylase activity. Involved in omega-hydroxylase P450 pathway. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Implicated in hereditary spastic paraplegia 56.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cytochrome P450 2U1; cytochrome P450, family 2, subfamily U, polypeptide 1; long-chain fatty acid omega-monooxygenase; P450TEC; spastic paraplegia 49; spastic paraplegia 56 (autosomal dominant); SPG49; SPG56
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384107,931,549 - 107,953,461 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4107,931,549 - 107,953,461 (+)EnsemblGRCh38hg38GRCh38
GRCh374108,852,705 - 108,874,617 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364109,072,166 - 109,094,062 (+)NCBINCBI36Build 36hg18NCBI36
Build 344109,210,368 - 109,231,027NCBI
Celera4106,147,507 - 106,169,403 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4104,584,305 - 104,606,201 (+)NCBIHuRef
CHM1_14108,829,176 - 108,851,087 (+)NCBICHM1_1
T2T-CHM13v2.04111,232,159 - 111,255,785 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
amphetamine  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
C60 fullerene  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cyclosporin A  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
flusilazole  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
gentamycin  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
leflunomide  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
obeticholic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (EXP)
propiconazole  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
toluene  (EXP)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12107412   PMID:12477932   PMID:14660610   PMID:14975754   PMID:15128046   PMID:15588491   PMID:20301682   PMID:20332099   PMID:20630735   PMID:21707071   PMID:21873635   PMID:24337409  
PMID:24563460   PMID:25857771   PMID:25872594   PMID:26914923   PMID:27292318   PMID:27456766   PMID:27553021   PMID:28083596   PMID:28725025   PMID:28743672   PMID:29034544   PMID:31281085  
PMID:32006740   PMID:32457219   PMID:33961781   PMID:34546337   PMID:36166872   PMID:36498943   PMID:38113892  


Genomics

Comparative Map Data
CYP2U1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384107,931,549 - 107,953,461 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4107,931,549 - 107,953,461 (+)EnsemblGRCh38hg38GRCh38
GRCh374108,852,705 - 108,874,617 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364109,072,166 - 109,094,062 (+)NCBINCBI36Build 36hg18NCBI36
Build 344109,210,368 - 109,231,027NCBI
Celera4106,147,507 - 106,169,403 (+)NCBICelera
Cytogenetic Map4q25NCBI
HuRef4104,584,305 - 104,606,201 (+)NCBIHuRef
CHM1_14108,829,176 - 108,851,087 (+)NCBICHM1_1
T2T-CHM13v2.04111,232,159 - 111,255,785 (+)NCBIT2T-CHM13v2.0
Cyp2u1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393131,084,140 - 131,097,806 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3131,082,090 - 131,096,876 (-)EnsemblGRCm39 Ensembl
GRCm383131,290,491 - 131,304,157 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3131,288,441 - 131,303,227 (-)EnsemblGRCm38mm10GRCm38
MGSCv373130,993,409 - 131,006,145 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363131,279,646 - 131,300,795 (-)NCBIMGSCv36mm8
Celera3137,811,630 - 137,824,364 (-)NCBICelera
Cytogenetic Map3G3NCBI
cM Map360.89NCBI
Cyp2u1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82222,523,516 - 222,541,055 (-)NCBIGRCr8
mRatBN7.22219,849,403 - 219,866,959 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2219,849,407 - 219,866,882 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2227,505,747 - 227,523,224 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02225,405,415 - 225,422,891 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02220,263,041 - 220,280,518 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02236,414,131 - 236,431,650 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2236,414,135 - 236,431,683 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02254,963,065 - 254,980,117 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42228,771,187 - 228,788,636 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12228,757,928 - 228,775,376 (-)NCBI
Celera2212,105,431 - 212,122,977 (-)NCBICelera
Cytogenetic Map2q43NCBI
LOC102028874
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554961,875,401 - 1,882,542 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554961,873,031 - 1,887,840 (-)NCBIChiLan1.0ChiLan1.0
CYP2U1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23106,029,669 - 106,052,193 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14106,324,613 - 106,347,107 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04100,436,365 - 100,458,845 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14111,009,198 - 111,031,269 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4111,009,198 - 111,031,269 (+)Ensemblpanpan1.1panPan2
CYP2U1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13228,426,250 - 28,445,399 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3228,438,173 - 28,444,383 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3213,576,376 - 13,596,209 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03228,655,415 - 28,674,792 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13228,648,718 - 28,668,053 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03228,393,226 - 28,412,584 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03211,444,133 - 11,463,495 (-)NCBIUU_Cfam_GSD_1.0
LOC101973126
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530112,681,300 - 12,703,056 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936818650,589 - 672,355 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936818650,593 - 672,349 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYP2U1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8114,011,304 - 114,035,357 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18114,016,915 - 114,035,905 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28122,277,257 - 122,295,855 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CYP2U1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1755,859,669 - 55,880,266 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl755,859,849 - 55,879,280 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603734,484,923 - 34,506,814 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101708291
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248301,469,868 - 1,485,804 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248301,470,186 - 1,485,804 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYP2U1
257 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) single nucleotide variant Global developmental delay [RCV000162142]|Hereditary spastic paraplegia 56 [RCV000032696]|Spastic paraplegia [RCV000162185]|not provided [RCV000442087] Chr4:107945426 [GRCh38]
Chr4:108866582 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic
NM_183075.3(CYP2U1):c.1139A>G (p.Glu380Gly) single nucleotide variant Hereditary spastic paraplegia 56 [RCV000032697] Chr4:107947388 [GRCh38]
Chr4:108868544 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.61_73del (p.Leu21fs) deletion Hereditary spastic paraplegia 56 [RCV000032698] Chr4:107931697..107931709 [GRCh38]
Chr4:108852853..108852865 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.784T>C (p.Cys262Arg) single nucleotide variant Hereditary spastic paraplegia 56 [RCV000032699] Chr4:107945263 [GRCh38]
Chr4:108866419 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp) single nucleotide variant Hereditary spastic paraplegia 56 [RCV000032700]|Hereditary spastic paraplegia [RCV001847627]|Spastic paraplegia [RCV000814689]|not provided [RCV002264909] Chr4:107950250 [GRCh38]
Chr4:108871406 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic|uncertain significance
NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu) single nucleotide variant Inborn genetic diseases [RCV002528284]|Spastic paraplegia [RCV001858042]|not provided [RCV000521418] Chr4:107932001 [GRCh38]
Chr4:108853157 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3		 pathogenic
GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3 copy number gain See cases [RCV000051777] Chr4:105778347..110206873 [GRCh38]
Chr4:106699504..111128029 [GRCh37]
Chr4:106918953..111347478 [NCBI36]
Chr4:4q24-25		 pathogenic
NM_183075.3(CYP2U1):c.235C>G (p.Pro79Ala) single nucleotide variant Spastic paraplegia [RCV001303163] Chr4:107931878 [GRCh38]
Chr4:108853034 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.2(CYP2U1):c.1209_1210delAG (p.Glu404Serfs) deletion Spastic paraplegia 56, autosomal recessive [RCV000184032] Chr4:107947458..107947459 [GRCh38]
Chr4:108868614..108868615 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.342C>A (p.Tyr114Ter) single nucleotide variant Spastic paraplegia [RCV003767255]|not provided [RCV000579335] Chr4:107931985 [GRCh38]
Chr4:108853141 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.490+6C>T single nucleotide variant Hereditary spastic paraplegia [RCV001848016]|Spastic paraplegia [RCV000229957]|not specified [RCV000614821] Chr4:107932139 [GRCh38]
Chr4:108853295 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser) single nucleotide variant CYP2U1-related condition [RCV003979951]|Hereditary spastic paraplegia [RCV001848931]|Spastic paraplegia [RCV001087361]|not provided [RCV000762105] Chr4:107945471 [GRCh38]
Chr4:108866627 [GRCh37]
Chr4:4q25		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183075.3(CYP2U1):c.515C>T (p.Pro172Leu) single nucleotide variant Spastic paraplegia [RCV000232529] Chr4:107944994 [GRCh38]
Chr4:108866150 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.-24_8del (p.Met1fs) deletion not provided [RCV000514679] Chr4:107931620..107931651 [GRCh38]
Chr4:108852776..108852807 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile) single nucleotide variant CYP2U1-related condition [RCV003979950]|Hereditary spastic paraplegia [RCV001848930]|Spastic paraplegia [RCV000554796]|not provided [RCV001696939] Chr4:107947400 [GRCh38]
Chr4:108868556 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_183075.3(CYP2U1):c.1178C>T (p.Ser393Phe) single nucleotide variant Inborn genetic diseases [RCV002527685]|Spastic paraplegia [RCV000529478] Chr4:107947427 [GRCh38]
Chr4:108868583 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1396C>T (p.Arg466Ter) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001805035]|not provided [RCV000415839] Chr4:107949457 [GRCh38]
Chr4:108870613 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic
NM_183075.3(CYP2U1):c.555del (p.Arg186fs) deletion not provided [RCV000416152] Chr4:107945033 [GRCh38]
Chr4:108866189 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.786_789del (p.Ile261_Cys262insTer) microsatellite not provided [RCV000730782] Chr4:107945261..107945264 [GRCh38]
Chr4:108866417..108866420 [GRCh37]
Chr4:4q25		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_183075.3(CYP2U1):c.1127-17T>C single nucleotide variant Hereditary spastic paraplegia 56 [RCV001662374]|Spastic paraplegia [RCV001509665]|not specified [RCV000431079] Chr4:107947359 [GRCh38]
Chr4:108868515 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr) single nucleotide variant Spastic paraplegia [RCV000822562]|not provided [RCV000445117] Chr4:107945108 [GRCh38]
Chr4:108866264 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.811A>G (p.Asn271Asp) single nucleotide variant not provided [RCV000418645] Chr4:107945290 [GRCh38]
Chr4:108866446 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.-37G>A single nucleotide variant not specified [RCV000424711] Chr4:107931607 [GRCh38]
Chr4:108852763 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.-22C>A single nucleotide variant not specified [RCV000440151] Chr4:107931622 [GRCh38]
Chr4:108852778 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001333700]|Hereditary spastic paraplegia [RCV001848810]|Spastic paraplegia [RCV000466558] Chr4:107931951 [GRCh38]
Chr4:108853107 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.943C>T (p.Gln315Ter) single nucleotide variant Hereditary spastic paraplegia 56 [RCV000497580] Chr4:107945422 [GRCh38]
Chr4:108866578 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.452C>T (p.Pro151Leu) single nucleotide variant Hereditary spastic paraplegia 56 [RCV000498760] Chr4:107932095 [GRCh38]
Chr4:108853251 [GRCh37]
Chr4:4q25		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs) deletion Hereditary spastic paraplegia 56 [RCV000184032]|Inborn genetic diseases [RCV001266528]|Spastic paraplegia [RCV001851349]|not provided [RCV000494446] Chr4:107947458..107947459 [GRCh38]
Chr4:108868614..108868615 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_183075.3(CYP2U1):c.1377G>A (p.Pro459=) single nucleotide variant Spastic paraplegia [RCV002063946]|not provided [RCV003884659]|not specified [RCV000611156] Chr4:107949438 [GRCh38]
Chr4:108870594 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001848994]|Inborn genetic diseases [RCV002529743]|Spastic paraplegia [RCV001079844]|not provided [RCV000762104] Chr4:107945329 [GRCh38]
Chr4:108866485 [GRCh37]
Chr4:4q25		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_183075.3(CYP2U1):c.370C>T (p.His124Tyr) single nucleotide variant Hereditary spastic paraplegia 5A [RCV000626113] Chr4:107932013 [GRCh38]
Chr4:108853169 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_183075.3(CYP2U1):c.1033A>G (p.Ile345Val) single nucleotide variant Spastic paraplegia [RCV000698727] Chr4:107945512 [GRCh38]
Chr4:108866668 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter) single nucleotide variant Hereditary spastic paraplegia 56 [RCV000681665]|See cases [RCV002252212]|Spastic paraplegia [RCV002531424] Chr4:107947417 [GRCh38]
Chr4:108868573 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.1219A>G (p.Ile407Val) single nucleotide variant Spastic paraplegia [RCV000686915] Chr4:107947468 [GRCh38]
Chr4:108868624 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001391446]|Hereditary spastic paraplegia [RCV001849057]|Spastic paraplegia [RCV000692719]|not provided [RCV001570056] Chr4:107949437 [GRCh38]
Chr4:108870593 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_183075.3(CYP2U1):c.1630A>T (p.Arg544Ter) single nucleotide variant Spastic paraplegia [RCV000694074]|not provided [RCV000998257] Chr4:107950418 [GRCh38]
Chr4:108871574 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1162G>A (p.Ala388Thr) single nucleotide variant Inborn genetic diseases [RCV003303126]|Spastic paraplegia [RCV000690587] Chr4:107947411 [GRCh38]
Chr4:108868567 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs) microsatellite CYP2U1-related condition [RCV003420263]|Spastic paraplegia [RCV000706230] Chr4:107947399..107947400 [GRCh38]
Chr4:108868555..108868556 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q24-25(chr4:105039193-110409978)x3 copy number gain not provided [RCV000743885] Chr4:105039193..110409978 [GRCh37]
Chr4:4q24-25		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_183075.3(CYP2U1):c.453G>C (p.Pro151=) single nucleotide variant not provided [RCV001531408] Chr4:107932096 [GRCh38]
Chr4:108853252 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.10C>T (p.Pro4Ser) single nucleotide variant Spastic paraplegia [RCV000860834]|not provided [RCV003437444] Chr4:107931653 [GRCh38]
Chr4:108852809 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.-70C>T single nucleotide variant not provided [RCV001648007] Chr4:107931574 [GRCh38]
Chr4:108852730 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.895A>T (p.Lys299Ter) single nucleotide variant not provided [RCV000760620] Chr4:107945374 [GRCh38]
Chr4:108866530 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.1289-240T>C single nucleotide variant not provided [RCV001550575] Chr4:107949110 [GRCh38]
Chr4:108870266 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.684C>A (p.Val228=) single nucleotide variant not provided [RCV000923113] Chr4:107945163 [GRCh38]
Chr4:108866319 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1032T>C (p.Tyr344=) single nucleotide variant not provided [RCV000866453] Chr4:107945511 [GRCh38]
Chr4:108866667 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1456+8A>G single nucleotide variant Spastic paraplegia [RCV000865054] Chr4:107949525 [GRCh38]
Chr4:108870681 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.200C>T (p.Pro67Leu) single nucleotide variant Spastic paraplegia [RCV001065832] Chr4:107931843 [GRCh38]
Chr4:108852999 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.701C>T (p.Ser234Phe) single nucleotide variant Spastic paraplegia [RCV001070231] Chr4:107945180 [GRCh38]
Chr4:108866336 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.12:g.(?_107944960)_(107950433_?)dup duplication Spastic paraplegia [RCV001032141] Chr4:108866116..108871589 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile) single nucleotide variant Hereditary spastic paraplegia [RCV001849112]|Spastic paraplegia [RCV000809394] Chr4:107944996 [GRCh38]
Chr4:108866152 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.639C>T (p.His213=) single nucleotide variant Hereditary spastic paraplegia [RCV001849144]|Spastic paraplegia [RCV000861541]|not provided [RCV003432790] Chr4:107945118 [GRCh38]
Chr4:108866274 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.60C>T (p.Leu20=) single nucleotide variant Hereditary spastic paraplegia [RCV001849150]|Spastic paraplegia [RCV000861805] Chr4:107931703 [GRCh38]
Chr4:108852859 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.1132G>A (p.Val378Ile) single nucleotide variant Spastic paraplegia [RCV000861334]|not provided [RCV001545871] Chr4:107947381 [GRCh38]
Chr4:108868537 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.372C>T (p.His124=) single nucleotide variant Spastic paraplegia [RCV000862199] Chr4:107932015 [GRCh38]
Chr4:108853171 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1572G>A (p.Leu524=) single nucleotide variant Spastic paraplegia [RCV000869416] Chr4:107950360 [GRCh38]
Chr4:108871516 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.996T>C (p.Asn332=) single nucleotide variant Spastic paraplegia [RCV000865587] Chr4:107945475 [GRCh38]
Chr4:108866631 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.890T>C (p.Phe297Ser) single nucleotide variant Spastic paraplegia [RCV000811051] Chr4:107945369 [GRCh38]
Chr4:108866525 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.490+303A>G single nucleotide variant not provided [RCV000829873] Chr4:107932436 [GRCh38]
Chr4:108853592 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.491-118T>A single nucleotide variant not provided [RCV000838911] Chr4:107944852 [GRCh38]
Chr4:108866008 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln) single nucleotide variant Hereditary spastic paraplegia 56 [RCV000785945]|Spastic paraplegia [RCV003750822] Chr4:107950251 [GRCh38]
Chr4:108871407 [GRCh37]
Chr4:4q25		 likely pathogenic|uncertain significance
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr) single nucleotide variant Spastic paraplegia [RCV000810692]|not provided [RCV001508157] Chr4:107945483 [GRCh38]
Chr4:108866639 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.1397G>A (p.Arg466Gln) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001331925]|Spastic paraplegia [RCV000794703] Chr4:107949458 [GRCh38]
Chr4:108870614 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.471del (p.Ile158fs) deletion Spastic paraplegia [RCV000812260] Chr4:107932113 [GRCh38]
Chr4:108853269 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.1106C>T (p.Ser369Leu) single nucleotide variant Spastic paraplegia [RCV000813031] Chr4:107945585 [GRCh38]
Chr4:108866741 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1033_1034del (p.Ile345fs) microsatellite Spastic paraplegia [RCV000816418] Chr4:107945509..107945510 [GRCh38]
Chr4:108866665..108866666 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.2(CYP2U1):c.-204C>A single nucleotide variant not provided [RCV000831676] Chr4:107931440 [GRCh38]
Chr4:108852596 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.318C>T (p.Leu106=) single nucleotide variant Spastic paraplegia [RCV001858571] Chr4:107931961 [GRCh38]
Chr4:108853117 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=) single nucleotide variant Hereditary spastic paraplegia [RCV001849152]|Spastic paraplegia [RCV001492536]|not provided [RCV003432791] Chr4:107945523 [GRCh38]
Chr4:108866679 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
Single allele duplication not provided [RCV000845097] Chr4:108641272..109259781 [GRCh37]
Chr4:4q25		 not provided
NM_183075.3(CYP2U1):c.396C>T (p.Asp132=) single nucleotide variant Spastic paraplegia [RCV000862098]|not provided [RCV001815448] Chr4:107932039 [GRCh38]
Chr4:108853195 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1585G>T (p.Gly529Cys) single nucleotide variant Spastic paraplegia [RCV000804518] Chr4:107950373 [GRCh38]
Chr4:108871529 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.739_742del (p.Glu247fs) deletion Hereditary spastic paraplegia 56 [RCV000991425] Chr4:107945215..107945218 [GRCh38]
Chr4:108866371..108866374 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln) single nucleotide variant Hereditary spastic paraplegia [RCV001847211]|Spastic paraplegia [RCV001247804] Chr4:107945458 [GRCh38]
Chr4:108866614 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.491-68G>A single nucleotide variant not provided [RCV001717311] Chr4:107944902 [GRCh38]
Chr4:108866058 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.491-128_491-127insCA insertion not provided [RCV001597891] Chr4:107944841..107944842 [GRCh38]
Chr4:108865997..108865998 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.1584del (p.Phe528fs) deletion not provided [RCV002280011] Chr4:107950370 [GRCh38]
Chr4:108871526 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1127-53G>A single nucleotide variant not provided [RCV001544698] Chr4:107947323 [GRCh38]
Chr4:108868479 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.767C>T (p.Ser256Leu) single nucleotide variant Spastic paraplegia [RCV001907712] Chr4:107945246 [GRCh38]
Chr4:108866402 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.491-118_491-117insATATACATATATATA insertion not provided [RCV001650097] Chr4:107944852..107944853 [GRCh38]
Chr4:108866008..108866009 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.1119T>C (p.Asp373=) single nucleotide variant Spastic paraplegia [RCV002064612] Chr4:107945598 [GRCh38]
Chr4:108866754 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.869T>A (p.Ile290Asn) single nucleotide variant Spastic paraplegia [RCV001057191] Chr4:107945348 [GRCh38]
Chr4:108866504 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu) single nucleotide variant CYP2U1-related condition [RCV003908462]|Spastic paraplegia [RCV001240846]|not specified [RCV002298912] Chr4:107931648 [GRCh38]
Chr4:108852804 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.491-234C>A single nucleotide variant not provided [RCV001557446] Chr4:107944736 [GRCh38]
Chr4:108865892 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.490+218T>C single nucleotide variant not provided [RCV001557948] Chr4:107932351 [GRCh38]
Chr4:108853507 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.490+95C>G single nucleotide variant not provided [RCV001644058] Chr4:107932228 [GRCh38]
Chr4:108853384 [GRCh37]
Chr4:4q25		 benign
NC_000004.12:g.107931403T>C single nucleotide variant not provided [RCV001717108] Chr4:107931403 [GRCh38]
Chr4:108852559 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.1456+91T>A single nucleotide variant not provided [RCV001717312] Chr4:107949608 [GRCh38]
Chr4:108870764 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.*132G>T single nucleotide variant Hereditary spastic paraplegia [RCV001847321]|not provided [RCV001718223] Chr4:107950555 [GRCh38]
Chr4:108871711 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.491-119_491-118insA insertion not provided [RCV001667358] Chr4:107944851..107944852 [GRCh38]
Chr4:108866007..108866008 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu) single nucleotide variant Hereditary spastic paraplegia 56 [RCV002290586]|Spastic paraplegia [RCV001071800] Chr4:107947502 [GRCh38]
Chr4:108868658 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.557G>A (p.Arg186His) single nucleotide variant Hereditary spastic paraplegia [RCV001847191]|Spastic paraplegia [RCV001211756] Chr4:107945036 [GRCh38]
Chr4:108866192 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.854del (p.Lys285fs) deletion Spastic paraplegia [RCV001245692] Chr4:107945332 [GRCh38]
Chr4:108866488 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.311_336dup (p.Val113delinsArgCysSerTrpLeuThrTer) duplication Hereditary spastic paraplegia 56 [RCV001251105] Chr4:107931947..107931948 [GRCh38]
Chr4:108853103..108853104 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.604G>A (p.Glu202Lys) single nucleotide variant Seizure [RCV001258323] Chr4:107945083 [GRCh38]
Chr4:108866239 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.901dup (p.Ile301fs) duplication not provided [RCV001268827] Chr4:107945373..107945374 [GRCh38]
Chr4:108866529..108866530 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.1195del (p.Gln399fs) deletion not provided [RCV001281654] Chr4:107947442 [GRCh38]
Chr4:108868598 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.1325T>A (p.Ile442Asn) single nucleotide variant not provided [RCV001281655] Chr4:107949386 [GRCh38]
Chr4:108870542 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.127G>C (p.Val43Leu) single nucleotide variant Spastic paraplegia [RCV001341082] Chr4:107931770 [GRCh38]
Chr4:108852926 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1323G>C (p.Leu441Phe) single nucleotide variant Spastic paraplegia [RCV001373286] Chr4:107949384 [GRCh38]
Chr4:108870540 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.387C>T (p.Val129=) single nucleotide variant Spastic paraplegia [RCV001396921] Chr4:107932030 [GRCh38]
Chr4:108853186 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1A>C (p.Met1Leu) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001391444] Chr4:107931644 [GRCh38]
Chr4:108852800 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.425A>T (p.Gln142Leu) single nucleotide variant Spastic paraplegia [RCV001327226] Chr4:107932068 [GRCh38]
Chr4:108853224 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.472A>C (p.Ile158Leu) single nucleotide variant Spastic paraplegia [RCV001345955] Chr4:107932115 [GRCh38]
Chr4:108853271 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala) single nucleotide variant Spastic paraplegia [RCV001344464]|not provided [RCV002261350] Chr4:107931849 [GRCh38]
Chr4:108853005 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1469G>A (p.Cys490Tyr) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001391447] Chr4:107950257 [GRCh38]
Chr4:108871413 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.950T>A (p.Phe317Tyr) single nucleotide variant Spastic paraplegia [RCV001298688] Chr4:107945429 [GRCh38]
Chr4:108866585 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.719G>A (p.Arg240His) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001391445]|Spastic paraplegia [RCV001880212] Chr4:107945198 [GRCh38]
Chr4:108866354 [GRCh37]
Chr4:4q25		 pathogenic|uncertain significance
NM_183075.3(CYP2U1):c.452C>A (p.Pro151Gln) single nucleotide variant not provided [RCV001508155] Chr4:107932095 [GRCh38]
Chr4:108853251 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.864A>G (p.Arg288=) single nucleotide variant Spastic paraplegia [RCV001430886] Chr4:107945343 [GRCh38]
Chr4:108866499 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.696T>C (p.Ile232=) single nucleotide variant Spastic paraplegia [RCV001435783] Chr4:107945175 [GRCh38]
Chr4:108866331 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.947_948del (p.Asp316fs) deletion Spastic paraplegia [RCV001386606] Chr4:107945426..107945427 [GRCh38]
Chr4:108866582..108866583 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) single nucleotide variant Hereditary spastic paraplegia [RCV001847253]|Spastic paraplegia [RCV001379753]|not provided [RCV002276241] Chr4:107931986 [GRCh38]
Chr4:108853142 [GRCh37]
Chr4:4q25		 pathogenic|likely pathogenic
NM_183075.3(CYP2U1):c.*31A>G single nucleotide variant Hereditary spastic paraplegia [RCV001847315]|not provided [RCV001653325] Chr4:107950454 [GRCh38]
Chr4:108871610 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001847285]|Spastic paraplegia [RCV001865936]|not provided [RCV001508156] Chr4:107945150 [GRCh38]
Chr4:108866306 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1127-121A>G single nucleotide variant not provided [RCV001717309] Chr4:107947255 [GRCh38]
Chr4:108868411 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.491-118_491-117insATATATATA insertion not provided [RCV001667398] Chr4:107944852..107944853 [GRCh38]
Chr4:108866008..108866009 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.1170A>G (p.Arg390=) single nucleotide variant Spastic paraplegia [RCV001451573] Chr4:107947419 [GRCh38]
Chr4:108868575 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.565G>C (p.Gly189Arg) single nucleotide variant Spastic paraplegia [RCV002544113]|not provided [RCV001755042] Chr4:107945044 [GRCh38]
Chr4:108866200 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1391C>G (p.Pro464Arg) single nucleotide variant Hereditary spastic paraplegia 56 [RCV002248350] Chr4:107949452 [GRCh38]
Chr4:108870608 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.808dup (p.Val270fs) duplication Hereditary spastic paraplegia 56 [RCV002248352] Chr4:107945285..107945286 [GRCh38]
Chr4:108866441..108866442 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.386T>A (p.Val129Asp) single nucleotide variant Inborn genetic diseases [RCV003197997] Chr4:107932029 [GRCh38]
Chr4:108853185 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1459A>G (p.Lys487Glu) single nucleotide variant Hereditary spastic paraplegia 56 [RCV001779353] Chr4:107950247 [GRCh38]
Chr4:108871403 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.631C>T (p.Gln211Ter) single nucleotide variant Abnormality of the nervous system [RCV001814380] Chr4:107945110 [GRCh38]
Chr4:108866266 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.29C>A (p.Pro10Gln) single nucleotide variant Spastic paraplegia [RCV001864426]|not provided [RCV003481152] Chr4:107931672 [GRCh38]
Chr4:108852828 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.305G>T (p.Gly102Val) single nucleotide variant Spastic paraplegia [RCV001947358] Chr4:107931948 [GRCh38]
Chr4:108853104 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1288+12G>T single nucleotide variant Spastic paraplegia [RCV001987086] Chr4:107947549 [GRCh38]
Chr4:108868705 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_183075.3(CYP2U1):c.925C>T (p.Leu309=) single nucleotide variant Hereditary spastic paraplegia [RCV001848379] Chr4:107945404 [GRCh38]
Chr4:108866560 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1288+1G>A single nucleotide variant Hereditary spastic paraplegia [RCV001848371] Chr4:107947538 [GRCh38]
Chr4:108868694 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.244C>T (p.Arg82Trp) single nucleotide variant Spastic paraplegia [RCV002041825] Chr4:107931887 [GRCh38]
Chr4:108853043 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.95C>T (p.Pro32Leu) single nucleotide variant Spastic paraplegia [RCV002023356] Chr4:107931738 [GRCh38]
Chr4:108852894 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.302T>C (p.Ile101Thr) single nucleotide variant Spastic paraplegia [RCV001909731] Chr4:107931945 [GRCh38]
Chr4:108853101 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1172C>T (p.Ala391Val) single nucleotide variant Hereditary spastic paraplegia [RCV001848368] Chr4:107947421 [GRCh38]
Chr4:108868577 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.118T>C (p.Cys40Arg) single nucleotide variant Hereditary spastic paraplegia [RCV001848369] Chr4:107931761 [GRCh38]
Chr4:108852917 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1281G>T (p.Glu427Asp) single nucleotide variant Hereditary spastic paraplegia [RCV001848370] Chr4:107947530 [GRCh38]
Chr4:108868686 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.360C>G (p.Phe120Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001848375] Chr4:107932003 [GRCh38]
Chr4:108853159 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.426G>T (p.Gln142His) single nucleotide variant Hereditary spastic paraplegia [RCV001848376] Chr4:107932069 [GRCh38]
Chr4:108853225 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.888T>C (p.Ser296=) single nucleotide variant Hereditary spastic paraplegia [RCV001848378]|Spastic paraplegia [RCV002543395] Chr4:107945367 [GRCh38]
Chr4:108866523 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21		 pathogenic
NM_183075.3(CYP2U1):c.267C>T (p.Ser89=) single nucleotide variant Spastic paraplegia [RCV002021616] Chr4:107931910 [GRCh38]
Chr4:108853066 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.502G>A (p.Ala168Thr) single nucleotide variant Spastic paraplegia [RCV001945752] Chr4:107944981 [GRCh38]
Chr4:108866137 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1264C>G (p.Pro422Ala) single nucleotide variant Spastic paraplegia [RCV001946094] Chr4:107947513 [GRCh38]
Chr4:108868669 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1348C>A (p.His450Asn) single nucleotide variant Hereditary spastic paraplegia [RCV001848372] Chr4:107949409 [GRCh38]
Chr4:108870565 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.986G>T (p.Arg329Met) single nucleotide variant Hereditary spastic paraplegia [RCV001848380] Chr4:107945465 [GRCh38]
Chr4:108866621 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.209G>A (p.Gly70Asp) single nucleotide variant Hereditary spastic paraplegia [RCV001848374] Chr4:107931852 [GRCh38]
Chr4:108853008 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.488A>T (p.Lys163Met) single nucleotide variant Hereditary spastic paraplegia [RCV001848377] Chr4:107932131 [GRCh38]
Chr4:108853287 [GRCh37]
Chr4:4q25		 uncertain significance
GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3 copy number gain not provided [RCV001827745] Chr4:95490755..109977216 [GRCh37]
Chr4:4q22.3-25		 likely pathogenic
NM_183075.3(CYP2U1):c.154C>T (p.Arg52Trp) single nucleotide variant Spastic paraplegia [RCV001903427] Chr4:107931797 [GRCh38]
Chr4:108852953 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.946G>C (p.Asp316His) single nucleotide variant Spastic paraplegia [RCV002000909] Chr4:107945425 [GRCh38]
Chr4:108866581 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.1224G>A (p.Met408Ile) single nucleotide variant Spastic paraplegia [RCV002038997] Chr4:107947473 [GRCh38]
Chr4:108868629 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1004G>A (p.Ser335Asn) single nucleotide variant Spastic paraplegia [RCV002011127] Chr4:107945483 [GRCh38]
Chr4:108866639 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.340T>A (p.Tyr114Asn) single nucleotide variant Spastic paraplegia [RCV001997011] Chr4:107931983 [GRCh38]
Chr4:108853139 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1414G>A (p.Gly472Arg) single nucleotide variant Spastic paraplegia [RCV001976452] Chr4:107949475 [GRCh38]
Chr4:108870631 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.317T>C (p.Leu106Pro) single nucleotide variant Spastic paraplegia [RCV001953003] Chr4:107931960 [GRCh38]
Chr4:108853116 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.508T>C (p.Tyr170His) single nucleotide variant Spastic paraplegia [RCV001958228] Chr4:107944987 [GRCh38]
Chr4:108866143 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.164G>A (p.Arg55Gln) single nucleotide variant Inborn genetic diseases [RCV003264224]|Spastic paraplegia [RCV001897094] Chr4:107931807 [GRCh38]
Chr4:108852963 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del) deletion Spastic paraplegia [RCV002026400] Chr4:107932009..107932017 [GRCh38]
Chr4:108853165..108853173 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1527G>C (p.Gln509His) single nucleotide variant Spastic paraplegia [RCV001952993] Chr4:107950315 [GRCh38]
Chr4:108871471 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.213C>G (p.Asn71Lys) single nucleotide variant Spastic paraplegia [RCV001992614] Chr4:107931856 [GRCh38]
Chr4:108853012 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1481A>G (p.Gln494Arg) single nucleotide variant Spastic paraplegia [RCV001883927] Chr4:107950269 [GRCh38]
Chr4:108871425 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.411C>T (p.Arg137=) single nucleotide variant Spastic paraplegia [RCV001988940] Chr4:107932054 [GRCh38]
Chr4:108853210 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.124C>T (p.Leu42Phe) single nucleotide variant Inborn genetic diseases [RCV003167383]|Spastic paraplegia [RCV001972165] Chr4:107931767 [GRCh38]
Chr4:108852923 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.107C>A (p.Ala36Glu) single nucleotide variant Spastic paraplegia [RCV001989332] Chr4:107931750 [GRCh38]
Chr4:108852906 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.640G>A (p.Gly214Arg) single nucleotide variant Inborn genetic diseases [RCV003170461]|Spastic paraplegia [RCV002012710] Chr4:107945119 [GRCh38]
Chr4:108866275 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.31_42dup (p.Ala11_Pro14dup) duplication Spastic paraplegia [RCV001905068] Chr4:107931670..107931671 [GRCh38]
Chr4:108852826..108852827 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.345C>T (p.Gly115=) single nucleotide variant Spastic paraplegia [RCV001981448] Chr4:107931988 [GRCh38]
Chr4:108853144 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.681C>T (p.Ala227=) single nucleotide variant Spastic paraplegia [RCV001898178] Chr4:107945160 [GRCh38]
Chr4:108866316 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.322G>A (p.Ala108Thr) single nucleotide variant Spastic paraplegia [RCV001953342] Chr4:107931965 [GRCh38]
Chr4:108853121 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1258G>A (p.Ala420Thr) single nucleotide variant Spastic paraplegia [RCV001932763] Chr4:107947507 [GRCh38]
Chr4:108868663 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.417G>A (p.Ala139=) single nucleotide variant Spastic paraplegia [RCV002207601] Chr4:107932060 [GRCh38]
Chr4:108853216 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.261G>C (p.Leu87=) single nucleotide variant Spastic paraplegia [RCV002210615] Chr4:107931904 [GRCh38]
Chr4:108853060 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1116C>T (p.Pro372=) single nucleotide variant Spastic paraplegia [RCV002186738] Chr4:107945595 [GRCh38]
Chr4:108866751 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr) single nucleotide variant Inborn genetic diseases [RCV002993462]|Spastic paraplegia [RCV002075500]|not provided [RCV003458124] Chr4:107945348 [GRCh38]
Chr4:108866504 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.1127-17T>A single nucleotide variant Spastic paraplegia [RCV002104490] Chr4:107947359 [GRCh38]
Chr4:108868515 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1288+11G>T single nucleotide variant Spastic paraplegia [RCV002206563] Chr4:107947548 [GRCh38]
Chr4:108868704 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.648C>A (p.Asp216Glu) single nucleotide variant Spastic paraplegia [RCV002097436] Chr4:107945127 [GRCh38]
Chr4:108866283 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1161C>T (p.Gly387=) single nucleotide variant Spastic paraplegia [RCV002076073] Chr4:107947410 [GRCh38]
Chr4:108868566 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1410C>T (p.Asp470=) single nucleotide variant Spastic paraplegia [RCV002152971] Chr4:107949471 [GRCh38]
Chr4:108870627 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1122A>T (p.Val374=) single nucleotide variant Spastic paraplegia [RCV002171941] Chr4:107945601 [GRCh38]
Chr4:108866757 [GRCh37]
Chr4:4q25		 likely benign
CYP2U1, 2-BP DEL, NT1210 deletion Hereditary spastic paraplegia 56 [RCV002248353]   pathogenic
NM_183075.3(CYP2U1):c.99C>T (p.Ser33=) single nucleotide variant Spastic paraplegia [RCV002135505] Chr4:107931742 [GRCh38]
Chr4:108852898 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1057G>A (p.Gly353Arg) single nucleotide variant See cases [RCV002253155] Chr4:107945536 [GRCh38]
Chr4:108866692 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1126+11G>C single nucleotide variant Spastic paraplegia [RCV002102222] Chr4:107945616 [GRCh38]
Chr4:108866772 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.636G>A (p.Lys212=) single nucleotide variant Spastic paraplegia [RCV002124009] Chr4:107945115 [GRCh38]
Chr4:108866271 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1289-8T>C single nucleotide variant Spastic paraplegia [RCV002217482] Chr4:107949342 [GRCh38]
Chr4:108870498 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1616T>A (p.Ile539Lys) single nucleotide variant Spastic paraplegia [RCV003111888] Chr4:107950404 [GRCh38]
Chr4:108871560 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.544C>G (p.His182Asp) single nucleotide variant Spastic paraplegia [RCV003115365] Chr4:107945023 [GRCh38]
Chr4:108866179 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1517del (p.Ser506fs) deletion Spastic paraplegia [RCV003112666] Chr4:107950305 [GRCh38]
Chr4:108871461 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.11:g.(?_108852800)_(108866781_?)del deletion Spastic paraplegia [RCV003113949] Chr4:108852800..108866781 [GRCh37]
Chr4:4q25		 pathogenic
NC_000004.11:g.(?_108853015)_(108855427_?)del deletion Spastic paraplegia [RCV003113950] Chr4:108853015..108855427 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.1207A>C (p.Thr403Pro) single nucleotide variant Spastic paraplegia [RCV003114934] Chr4:107947456 [GRCh38]
Chr4:108868612 [GRCh37]
Chr4:4q25		 uncertain significance
NC_000004.11:g.(?_108816710)_(108955513_?)dup duplication Deficiency of 3-hydroxyacyl-CoA dehydrogenase [RCV003116349] Chr4:108816710..108955513 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.392_393delinsTT (p.Ser131Ile) indel Spastic paraplegia [RCV003121417] Chr4:107932035..107932036 [GRCh38]
Chr4:108853191..108853192 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val) single nucleotide variant Hereditary spastic paraplegia 56 [RCV003128218] Chr4:107949416 [GRCh38]
Chr4:108870572 [GRCh37]
Chr4:4q25		 likely pathogenic|conflicting interpretations of pathogenicity
NM_183075.3(CYP2U1):c.41del (p.Pro14fs) deletion Hereditary spastic paraplegia 56 [RCV002248351] Chr4:107931682 [GRCh38]
Chr4:108852838 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.1289T>G (p.Val430Gly) single nucleotide variant not provided [RCV002261753] Chr4:107949350 [GRCh38]
Chr4:108870506 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.769C>T (p.Arg257Ter) single nucleotide variant Hereditary spastic paraplegia 56 [RCV003340470]|not provided [RCV002276124] Chr4:107945248 [GRCh38]
Chr4:108866404 [GRCh37]
Chr4:4q25		 pathogenic|uncertain significance
NM_183075.3(CYP2U1):c.640G>T (p.Gly214Ter) single nucleotide variant Hereditary spastic paraplegia 56 [RCV002290222] Chr4:107945119 [GRCh38]
Chr4:108866275 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.1567C>T (p.Leu523Phe) single nucleotide variant Spastic paraplegia [RCV002972306] Chr4:107950355 [GRCh38]
Chr4:108871511 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.488A>G (p.Lys163Arg) single nucleotide variant Spastic paraplegia [RCV002903528] Chr4:107932131 [GRCh38]
Chr4:108853287 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1493T>C (p.Met498Thr) single nucleotide variant Spastic paraplegia [RCV002971975] Chr4:107950281 [GRCh38]
Chr4:108871437 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1156A>G (p.Ile386Val) single nucleotide variant Spastic paraplegia [RCV002616982] Chr4:107947405 [GRCh38]
Chr4:108868561 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.923C>G (p.Ser308Cys) single nucleotide variant Spastic paraplegia [RCV002903956] Chr4:107945402 [GRCh38]
Chr4:108866558 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.940C>T (p.Pro314Ser) single nucleotide variant Spastic paraplegia [RCV003014899] Chr4:107945419 [GRCh38]
Chr4:108866575 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1148A>G (p.Glu383Gly) single nucleotide variant Inborn genetic diseases [RCV003095537]|Spastic paraplegia [RCV003095536] Chr4:107947397 [GRCh38]
Chr4:108868553 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.551C>A (p.Thr184Asn) single nucleotide variant Spastic paraplegia [RCV002618043] Chr4:107945030 [GRCh38]
Chr4:108866186 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1524G>T (p.Met508Ile) single nucleotide variant Spastic paraplegia [RCV003075844] Chr4:107950312 [GRCh38]
Chr4:108871468 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1107G>A (p.Ser369=) single nucleotide variant Spastic paraplegia [RCV002947295] Chr4:107945586 [GRCh38]
Chr4:108866742 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.168G>T (p.Ala56=) single nucleotide variant Spastic paraplegia [RCV003017682] Chr4:107931811 [GRCh38]
Chr4:108852967 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.464T>C (p.Leu155Pro) single nucleotide variant Spastic paraplegia [RCV002617600] Chr4:107932107 [GRCh38]
Chr4:108853263 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1615A>G (p.Ile539Val) single nucleotide variant Spastic paraplegia [RCV002909065] Chr4:107950403 [GRCh38]
Chr4:108871559 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.54G>A (p.Ala18=) single nucleotide variant Spastic paraplegia [RCV003015451] Chr4:107931697 [GRCh38]
Chr4:108852853 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.98G>T (p.Ser33Ile) single nucleotide variant Spastic paraplegia [RCV003074532] Chr4:107931741 [GRCh38]
Chr4:108852897 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.507T>C (p.His169=) single nucleotide variant Spastic paraplegia [RCV003075477] Chr4:107944986 [GRCh38]
Chr4:108866142 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.784T>G (p.Cys262Gly) single nucleotide variant Spastic paraplegia [RCV002862008] Chr4:107945263 [GRCh38]
Chr4:108866419 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1150A>G (p.Arg384Gly) single nucleotide variant Spastic paraplegia [RCV003095646] Chr4:107947399 [GRCh38]
Chr4:108868555 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.412G>A (p.Glu138Lys) single nucleotide variant Spastic paraplegia [RCV003076556] Chr4:107932055 [GRCh38]
Chr4:108853211 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.718C>T (p.Arg240Cys) single nucleotide variant Inborn genetic diseases [RCV002885700]|Spastic paraplegia [RCV002882188] Chr4:107945197 [GRCh38]
Chr4:108866353 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.514C>T (p.Pro172Ser) single nucleotide variant Inborn genetic diseases [RCV002947706]|Spastic paraplegia [RCV002947705] Chr4:107944993 [GRCh38]
Chr4:108866149 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.1169G>A (p.Arg390Gln) single nucleotide variant Spastic paraplegia [RCV002593387] Chr4:107947418 [GRCh38]
Chr4:108868574 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.930T>C (p.Asp310=) single nucleotide variant Spastic paraplegia [RCV002909571] Chr4:107945409 [GRCh38]
Chr4:108866565 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.174C>T (p.Gly58=) single nucleotide variant Spastic paraplegia [RCV002637901] Chr4:107931817 [GRCh38]
Chr4:108852973 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.115C>T (p.Leu39=) single nucleotide variant Spastic paraplegia [RCV002780898] Chr4:107931758 [GRCh38]
Chr4:108852914 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.117A>C (p.Leu39=) single nucleotide variant Spastic paraplegia [RCV002821052] Chr4:107931760 [GRCh38]
Chr4:108852916 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.956A>T (p.Asp319Val) single nucleotide variant Spastic paraplegia [RCV002910100] Chr4:107945435 [GRCh38]
Chr4:108866591 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.281C>T (p.Ala94Val) single nucleotide variant Spastic paraplegia [RCV002927547] Chr4:107931924 [GRCh38]
Chr4:108853080 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1450G>A (p.Gly484Arg) single nucleotide variant Spastic paraplegia [RCV002780352] Chr4:107949511 [GRCh38]
Chr4:108870667 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1167C>T (p.Asn389=) single nucleotide variant Spastic paraplegia [RCV003080352] Chr4:107947416 [GRCh38]
Chr4:108868572 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.682G>A (p.Val228Ile) single nucleotide variant Spastic paraplegia [RCV002867399] Chr4:107945161 [GRCh38]
Chr4:108866317 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.976G>A (p.Glu326Lys) single nucleotide variant Spastic paraplegia [RCV002621018] Chr4:107945455 [GRCh38]
Chr4:108866611 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.74T>C (p.Leu25Pro) single nucleotide variant Spastic paraplegia [RCV002638690] Chr4:107931717 [GRCh38]
Chr4:108852873 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1174C>A (p.Pro392Thr) single nucleotide variant Spastic paraplegia [RCV002705371] Chr4:107947423 [GRCh38]
Chr4:108868579 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.186G>T (p.Gly62=) single nucleotide variant Spastic paraplegia [RCV002780758] Chr4:107931829 [GRCh38]
Chr4:108852985 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.313G>A (p.Val105Met) single nucleotide variant Spastic paraplegia [RCV003079254] Chr4:107931956 [GRCh38]
Chr4:108853112 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.461C>T (p.Pro154Leu) single nucleotide variant Spastic paraplegia [RCV002927257] Chr4:107932104 [GRCh38]
Chr4:108853260 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.57C>G (p.Arg19=) single nucleotide variant Spastic paraplegia [RCV002867436] Chr4:107931700 [GRCh38]
Chr4:108852856 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.491-13T>C single nucleotide variant Spastic paraplegia [RCV002923948] Chr4:107944957 [GRCh38]
Chr4:108866113 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.216C>T (p.Phe72=) single nucleotide variant Spastic paraplegia [RCV002745852] Chr4:107931859 [GRCh38]
Chr4:108853015 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1127-13C>G single nucleotide variant Spastic paraplegia [RCV002626850] Chr4:107947363 [GRCh38]
Chr4:108868519 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.235C>T (p.Pro79Ser) single nucleotide variant Spastic paraplegia [RCV002643719] Chr4:107931878 [GRCh38]
Chr4:108853034 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1473G>A (p.Met491Ile) single nucleotide variant Spastic paraplegia [RCV003057108] Chr4:107950261 [GRCh38]
Chr4:108871417 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.754C>T (p.Leu252Phe) single nucleotide variant Inborn genetic diseases [RCV002873303] Chr4:107945233 [GRCh38]
Chr4:108866389 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.128T>C (p.Val43Ala) single nucleotide variant Spastic paraplegia [RCV002595830] Chr4:107931771 [GRCh38]
Chr4:108852927 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.899A>C (p.Lys300Thr) single nucleotide variant Spastic paraplegia [RCV002643221] Chr4:107945378 [GRCh38]
Chr4:108866534 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1270A>G (p.Met424Val) single nucleotide variant Spastic paraplegia [RCV002932924] Chr4:107947519 [GRCh38]
Chr4:108868675 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.831T>C (p.Tyr277=) single nucleotide variant Spastic paraplegia [RCV003022437] Chr4:107945310 [GRCh38]
Chr4:108866466 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.503C>T (p.Ala168Val) single nucleotide variant Spastic paraplegia [RCV002595877] Chr4:107944982 [GRCh38]
Chr4:108866138 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.953T>C (p.Ile318Thr) single nucleotide variant Spastic paraplegia [RCV002624133] Chr4:107945432 [GRCh38]
Chr4:108866588 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.5C>G (p.Ser2Trp) single nucleotide variant Inborn genetic diseases [RCV002644668] Chr4:107931648 [GRCh38]
Chr4:108852804 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.64C>T (p.Arg22Cys) single nucleotide variant Spastic paraplegia [RCV003042371] Chr4:107931707 [GRCh38]
Chr4:108852863 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.770G>A (p.Arg257Gln) single nucleotide variant Spastic paraplegia [RCV002644114] Chr4:107945249 [GRCh38]
Chr4:108866405 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.774C>G (p.Gly258=) single nucleotide variant Spastic paraplegia [RCV002982903] Chr4:107945253 [GRCh38]
Chr4:108866409 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.453G>A (p.Pro151=) single nucleotide variant Spastic paraplegia [RCV002700810] Chr4:107932096 [GRCh38]
Chr4:108853252 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.543_544del (p.His182fs) microsatellite Spastic paraplegia [RCV002676518] Chr4:107945018..107945019 [GRCh38]
Chr4:108866174..108866175 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.489G>A (p.Lys163=) single nucleotide variant Spastic paraplegia [RCV003062788] Chr4:107932132 [GRCh38]
Chr4:108853288 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.516C>T (p.Pro172=) single nucleotide variant Spastic paraplegia [RCV002938254] Chr4:107944995 [GRCh38]
Chr4:108866151 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.294C>T (p.Pro98=) single nucleotide variant Spastic paraplegia [RCV002835050] Chr4:107931937 [GRCh38]
Chr4:108853093 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1392T>C (p.Pro464=) single nucleotide variant Spastic paraplegia [RCV002716601] Chr4:107949453 [GRCh38]
Chr4:108870609 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.11C>T (p.Pro4Leu) single nucleotide variant Spastic paraplegia [RCV003064260] Chr4:107931654 [GRCh38]
Chr4:108852810 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.30G>A (p.Pro10=) single nucleotide variant Spastic paraplegia [RCV003009785] Chr4:107931673 [GRCh38]
Chr4:108852829 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.420G>C (p.Leu140=) single nucleotide variant Spastic paraplegia [RCV003049230] Chr4:107932063 [GRCh38]
Chr4:108853219 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.278C>A (p.Ala93Asp) single nucleotide variant Inborn genetic diseases [RCV002920530] Chr4:107931921 [GRCh38]
Chr4:108853077 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.904A>T (p.Ile302Phe) single nucleotide variant Spastic paraplegia [RCV002791727] Chr4:107945383 [GRCh38]
Chr4:108866539 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.958A>G (p.Met320Val) single nucleotide variant Spastic paraplegia [RCV002654413] Chr4:107945437 [GRCh38]
Chr4:108866593 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1519C>T (p.Leu507=) single nucleotide variant Spastic paraplegia [RCV002725766] Chr4:107950307 [GRCh38]
Chr4:108871463 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1199T>C (p.Met400Thr) single nucleotide variant Inborn genetic diseases [RCV003161680]|Spastic paraplegia [RCV003067736] Chr4:107947448 [GRCh38]
Chr4:108868604 [GRCh37]
Chr4:4q25		 likely benign|uncertain significance
NM_183075.3(CYP2U1):c.1056T>C (p.Ala352=) single nucleotide variant Spastic paraplegia [RCV003068786] Chr4:107945535 [GRCh38]
Chr4:108866691 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1254G>A (p.Pro418=) single nucleotide variant Spastic paraplegia [RCV002635002] Chr4:107947503 [GRCh38]
Chr4:108868659 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1301A>G (p.Tyr434Cys) single nucleotide variant Spastic paraplegia [RCV002585256] Chr4:107949362 [GRCh38]
Chr4:108870518 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.666C>T (p.Ser222=) single nucleotide variant Spastic paraplegia [RCV003070255] Chr4:107945145 [GRCh38]
Chr4:108866301 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1184C>T (p.Thr395Ile) single nucleotide variant Inborn genetic diseases [RCV003050970]|Spastic paraplegia [RCV003066578] Chr4:107947433 [GRCh38]
Chr4:108868589 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.696T>G (p.Ile232Met) single nucleotide variant Inborn genetic diseases [RCV002678924] Chr4:107945175 [GRCh38]
Chr4:108866331 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.195C>T (p.Pro65=) single nucleotide variant Spastic paraplegia [RCV003050692] Chr4:107931838 [GRCh38]
Chr4:108852994 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1466T>C (p.Val489Ala) single nucleotide variant Spastic paraplegia [RCV002607594] Chr4:107950254 [GRCh38]
Chr4:108871410 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.734A>G (p.Asn245Ser) single nucleotide variant Spastic paraplegia [RCV003072155] Chr4:107945213 [GRCh38]
Chr4:108866369 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1126+19C>G single nucleotide variant Spastic paraplegia [RCV003067162] Chr4:107945624 [GRCh38]
Chr4:108866780 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.155G>C (p.Arg52Pro) single nucleotide variant Spastic paraplegia [RCV002589974] Chr4:107931798 [GRCh38]
Chr4:108852954 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1586G>A (p.Gly529Asp) single nucleotide variant Hereditary spastic paraplegia 56 [RCV003145975] Chr4:107950374 [GRCh38]
Chr4:108871530 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1547del (p.Pro516fs) deletion Hereditary spastic paraplegia 56 [RCV003226080] Chr4:107950334 [GRCh38]
Chr4:108871490 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.108G>A (p.Ala36=) single nucleotide variant Spastic paraplegia [RCV003873149] Chr4:107931751 [GRCh38]
Chr4:108852907 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.533G>C (p.Arg178Thr) single nucleotide variant Hereditary spastic paraplegia 56 [RCV003388181] Chr4:107945012 [GRCh38]
Chr4:108866168 [GRCh37]
Chr4:4q25		 likely pathogenic
NM_183075.3(CYP2U1):c.1157T>C (p.Ile386Thr) single nucleotide variant not provided [RCV003481733] Chr4:107947406 [GRCh38]
Chr4:108868562 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.117A>T (p.Leu39=) single nucleotide variant not provided [RCV003439455] Chr4:107931760 [GRCh38]
Chr4:108852916 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.534G>C (p.Arg178Ser) single nucleotide variant CYP2U1-related condition [RCV003406173] Chr4:107945013 [GRCh38]
Chr4:108866169 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.740A>T (p.Glu247Val) single nucleotide variant not provided [RCV003439456] Chr4:107945219 [GRCh38]
Chr4:108866375 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.126C>G (p.Leu42=) single nucleotide variant not provided [RCV003435127] Chr4:107931769 [GRCh38]
Chr4:108852925 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1023C>T (p.Tyr341=) single nucleotide variant Spastic paraplegia [RCV003751372] Chr4:107945502 [GRCh38]
Chr4:108866658 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.143G>T (p.Trp48Leu) single nucleotide variant Spastic paraplegia [RCV003750391] Chr4:107931786 [GRCh38]
Chr4:108852942 [GRCh37]
Chr4:4q25		 uncertain significance
NM_183075.3(CYP2U1):c.1091del (p.Cys364fs) deletion Spastic paraplegia [RCV003751958] Chr4:107945570 [GRCh38]
Chr4:108866726 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.737G>C (p.Ser246Thr) single nucleotide variant CYP2U1-related condition [RCV003929293]|Spastic paraplegia [RCV003752447] Chr4:107945216 [GRCh38]
Chr4:108866372 [GRCh37]
Chr4:4q25		 benign|likely benign
NM_183075.3(CYP2U1):c.183C>T (p.Pro61=) single nucleotide variant Spastic paraplegia [RCV003752201] Chr4:107931826 [GRCh38]
Chr4:108852982 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.891C>T (p.Phe297=) single nucleotide variant Spastic paraplegia [RCV003750532] Chr4:107945370 [GRCh38]
Chr4:108866526 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.654_661del (p.Cys219fs) deletion Spastic paraplegia [RCV003752209] Chr4:107945128..107945135 [GRCh38]
Chr4:108866284..108866291 [GRCh37]
Chr4:4q25		 pathogenic
NM_183075.3(CYP2U1):c.88C>T (p.Leu30=) single nucleotide variant Spastic paraplegia [RCV003590219] Chr4:107931731 [GRCh38]
Chr4:108852887 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1289-3del deletion Spastic paraplegia [RCV003589411] Chr4:107949344 [GRCh38]
Chr4:108870500 [GRCh37]
Chr4:4q25		 benign
NM_183075.3(CYP2U1):c.924T>C (p.Ser308=) single nucleotide variant Spastic paraplegia [RCV003590790] Chr4:107945403 [GRCh38]
Chr4:108866559 [GRCh37]
Chr4:4q25		 likely benign
NM_183075.3(CYP2U1):c.1293C>G (p.Leu431=) single nucleotide variant Spastic paraplegia [RCV003589178] Chr4:107949354 [GRCh38]
Chr4:108870510 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_183075.3(CYP2U1):c.591C>G (p.Pro197=) single nucleotide variant Spastic paraplegia [RCV003589118] Chr4:107945070 [GRCh38]
Chr4:108866226 [GRCh37]
Chr4:4q25		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_183075.3(CYP2U1):c.229C>T (p.Leu77=) single nucleotide variant CYP2U1-related condition [RCV003971815] Chr4:107931872 [GRCh38]
Chr4:108853028 [GRCh37]
Chr4:4q25		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1649
Count of miRNA genes:767
Interacting mature miRNAs:876
Transcripts:ENST00000332884, ENST00000508453, ENST00000513302
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-59281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,873,767 - 108,873,891UniSTSGRCh37
Build 364109,093,216 - 109,093,340RGDNCBI36
Celera4106,168,557 - 106,168,681RGD
Cytogenetic Map4q25UniSTS
HuRef4104,605,355 - 104,605,479UniSTS
GeneMap99-GB4 RH Map4506.54UniSTS
Whitehead-RH Map4550.4UniSTS
A006Y35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,873,492 - 108,873,675UniSTSGRCh37
Build 364109,092,941 - 109,093,124RGDNCBI36
Celera4106,168,282 - 106,168,465RGD
Cytogenetic Map4q25UniSTS
HuRef4104,605,080 - 104,605,263UniSTS
GeneMap99-GB4 RH Map4505.33UniSTS
D4S3152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,873,798 - 108,873,891UniSTSGRCh37
Build 364109,093,247 - 109,093,340RGDNCBI36
Celera4106,168,588 - 106,168,681RGD
Cytogenetic Map4q25UniSTS
HuRef4104,605,386 - 104,605,479UniSTS
GeneMap99-G3 RH Map46162.0UniSTS
SHGC-50164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,873,737 - 108,873,842UniSTSGRCh37
Build 364109,093,186 - 109,093,291RGDNCBI36
Celera4106,168,527 - 106,168,632RGD
Cytogenetic Map4q25UniSTS
HuRef4104,605,325 - 104,605,430UniSTS
TNG Radiation Hybrid Map466317.0UniSTS
SHGC-59620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,874,332 - 108,874,459UniSTSGRCh37
Build 364109,093,781 - 109,093,908RGDNCBI36
Celera4106,169,122 - 106,169,249RGD
Cytogenetic Map4q25UniSTS
HuRef4104,605,920 - 104,606,047UniSTS
GeneMap99-GB4 RH Map4507.06UniSTS
NCBI RH Map41177.4UniSTS
SHGC-18776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374108,865,290 - 108,865,379UniSTSGRCh37
Build 364109,084,739 - 109,084,828RGDNCBI36
Celera4106,160,080 - 106,160,169RGD
Cytogenetic Map4q25UniSTS
HuRef4104,596,878 - 104,596,967UniSTS
TNG Radiation Hybrid Map466317.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 813 1061 109 3 213 4 1423 534 1153 47 366 157 1 1 244 1122
Low 1611 1467 1606 613 1251 452 2933 1648 2580 365 1087 1444 172 960 1666 5 2
Below cutoff 11 462 9 7 468 8 13 1 7 6 9 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC096564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY343323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU838483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX354124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX437421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD672608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000332884   ⟹   ENSP00000333212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,931,549 - 107,953,461 (+)Ensembl
RefSeq Acc Id: ENST00000508453   ⟹   ENSP00000423667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,931,596 - 107,951,667 (+)Ensembl
RefSeq Acc Id: ENST00000513302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4107,931,585 - 107,936,607 (+)Ensembl
RefSeq Acc Id: NM_183075   ⟹   NP_898898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384107,931,549 - 107,953,461 (+)NCBI
GRCh374108,852,716 - 108,874,617 (+)NCBI
Build 364109,072,166 - 109,094,062 (+)NCBI Archive
Celera4106,147,507 - 106,169,403 (+)RGD
HuRef4104,584,305 - 104,606,201 (+)RGD
CHM1_14108,829,176 - 108,851,087 (+)NCBI
T2T-CHM13v2.04111,233,835 - 111,255,785 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262717   ⟹   XP_005262774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384107,931,549 - 107,953,461 (+)NCBI
GRCh374108,852,716 - 108,874,617 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262720   ⟹   XP_005262777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384107,931,549 - 107,953,461 (+)NCBI
GRCh374108,852,716 - 108,874,617 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054348846   ⟹   XP_054204821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04111,232,159 - 111,255,785 (+)NCBI
RefSeq Acc Id: XM_054348847   ⟹   XP_054204822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04111,233,835 - 111,255,785 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_898898   ⟸   NM_183075
- UniProtKB: B2RMV7 (UniProtKB/Swiss-Prot),   Q96EQ6 (UniProtKB/Swiss-Prot),   Q7Z449 (UniProtKB/Swiss-Prot),   A8K1T7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262774   ⟸   XM_005262717
- Peptide Label: isoform X1
- UniProtKB: A8K1T7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262777   ⟸   XM_005262720
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000333212   ⟸   ENST00000332884
RefSeq Acc Id: ENSP00000423667   ⟸   ENST00000508453
RefSeq Acc Id: XP_054204821   ⟸   XM_054348846
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054204822   ⟸   XM_054348847
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z449-F1-model_v2 AlphaFold Q7Z449 1-544 view protein structure

Promoters
RGD ID:6868234
Promoter ID:EPDNEW_H7282
Type:initiation region
Name:CYP2U1_1
Description:cytochrome P450 family 2 subfamily U member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384107,931,549 - 107,931,609EPDNEW
RGD ID:6802149
Promoter ID:HG_KWN:48875
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_183075
Position:
Human AssemblyChrPosition (strand)Source
Build 364109,072,066 - 109,072,737 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20582 AgrOrtholog
COSMIC CYP2U1 COSMIC
Ensembl Genes ENSG00000155016 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000332884 ENTREZGENE
  ENST00000332884.11 UniProtKB/Swiss-Prot
  ENST00000508453.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155016 GTEx
HGNC ID HGNC:20582 ENTREZGENE
Human Proteome Map CYP2U1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I_CYP2D-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:113612 UniProtKB/Swiss-Prot
NCBI Gene 113612 ENTREZGENE
OMIM 610670 OMIM
PANTHER CYTOCHROME P450 2U1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME P450 508A4-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134924269 PharmGKB
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EP450ICYP2D UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K1T7 ENTREZGENE, UniProtKB/TrEMBL
  B2RMV7 ENTREZGENE
  CP2U1_HUMAN UniProtKB/Swiss-Prot
  E9PGH5_HUMAN UniProtKB/TrEMBL
  Q7Z449 ENTREZGENE
  Q96EQ6 ENTREZGENE
UniProt Secondary B2RMV7 UniProtKB/Swiss-Prot
  Q96EQ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-15 CYP2U1  cytochrome P450 family 2 subfamily U member 1  CYP2U1  cytochrome P450, family 2, subfamily U, polypeptide 1  Symbol and/or name change 5135510 APPROVED