NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) |
single nucleotide variant |
CYP2U1-related disorder [RCV004751232]|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 |
Inborn genetic diseases [RCV004978278]|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 provided [RCV004715777]|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 disorder [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 disorder [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 provided [RCV004716415]|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 provided [RCV004716444]|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]|not provided [RCV004760512] |
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 |
CYP2U1-related disorder [RCV004751565]|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 |
Inborn genetic diseases [RCV004972877]|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 |
CYP2U1-related disorder [RCV004799666]|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]|not provided [RCV004692109] |
Chr4:107947411 [GRCh38] Chr4:108868567 [GRCh37] Chr4:4q25 |
likely benign|uncertain significance |
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs) |
microsatellite |
CYP2U1-related disorder [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 |
Inborn genetic diseases [RCV004977993]|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|conflicting interpretations of pathogenicity |
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 |
Hereditary spastic paraplegia 56 [RCV004796322]|Spastic paraplegia [RCV000812260] |
Chr4:107932113 [GRCh38] Chr4:108853269 [GRCh37] Chr4:4q25 |
pathogenic|likely 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 |
CYP2U1-related disorder [RCV004799681]|not provided [RCV002280011] |
Chr4:107950370 [GRCh38] Chr4:108871526 [GRCh37] Chr4:4q25 |
likely pathogenic|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 disorder [RCV003908462]|Spastic paraplegia [RCV001240846]|not provided [RCV004584868]|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 56 [RCV004796374]|Hereditary spastic paraplegia [RCV001847191]|Spastic paraplegia [RCV001211756]|not provided [RCV004761982] |
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.1472T>C (p.Met491Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004608528] |
Chr4:107950260 [GRCh38] Chr4:108871416 [GRCh37] Chr4:4q25 |
uncertain significance |
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 |
Inborn genetic diseases [RCV004978335]|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 |
Inborn genetic diseases [RCV004978378]|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 |
Inborn genetic diseases [RCV004036426]|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]|Inborn genetic diseases [RCV004035438]|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 56 [RCV004576988]|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.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 |
likely benign|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 |
Inborn genetic diseases [RCV004043846]|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 |
Hereditary spastic paraplegia 56 [RCV003989750]|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]|not provided [RCV004546680] |
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 |
Inborn genetic diseases [RCV004045770]|Spastic paraplegia [RCV002097436] |
Chr4:107945127 [GRCh38] Chr4:108866283 [GRCh37] Chr4:4q25 |
likely benign|uncertain significance |
NM_183075.3(CYP2U1):c.1161C>T (p.Gly387=) |
single nucleotide variant |
Spastic paraplegia [RCV002076073]|not provided [RCV004546706] |
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]|Spastic paraplegia [RCV005099273] |
Chr4:107949416 [GRCh38] Chr4:108870572 [GRCh37] Chr4:4q25 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_183075.3(CYP2U1):c.29C>T (p.Pro10Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004608529] |
Chr4:107931672 [GRCh38] Chr4:108852828 [GRCh37] Chr4:4q25 |
uncertain significance |
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 |
Inborn genetic diseases [RCV004614255]|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 |
Inborn genetic diseases [RCV004070403]|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 |
Inborn genetic diseases [RCV004973716]|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 |
Inborn genetic diseases [RCV004070640]|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.104G>A (p.Gly35Asp) |
single nucleotide variant |
not provided [RCV004792858] |
Chr4:107931747 [GRCh38] Chr4:108852903 [GRCh37] Chr4:4q25 |
uncertain significance |
NM_183075.3(CYP2U1):c.1631G>A (p.Arg544Lys) |
single nucleotide variant |
not provided [RCV004792859] |
Chr4:107950419 [GRCh38] Chr4:108871575 [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.1084_1088del (p.Leu362fs) |
deletion |
Hereditary spastic paraplegia 56 [RCV004797026] |
Chr4:107945561..107945565 [GRCh38] Chr4:108866717..108866721 [GRCh37] Chr4:4q25 |
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 disorder [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.48G>A (p.Trp16Ter) |
single nucleotide variant |
Spastic paraplegia [RCV005170708] |
Chr4:107931691 [GRCh38] Chr4:108852847 [GRCh37] Chr4:4q25 |
pathogenic |
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 disorder [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 |
NM_183075.3(CYP2U1):c.343G>C (p.Gly115Arg) |
single nucleotide variant |
Hereditary spastic paraplegia 56 [RCV003989366] |
Chr4:107931986 [GRCh38] Chr4:108853142 [GRCh37] Chr4:4q25 |
uncertain significance |
NM_183075.3(CYP2U1):c.43C>T (p.Pro15Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004370435] |
Chr4:107931686 [GRCh38] Chr4:108852842 [GRCh37] Chr4:4q25 |
uncertain significance |
NM_183075.3(CYP2U1):c.1272G>A (p.Met424Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004370434] |
Chr4:107947521 [GRCh38] Chr4:108868677 [GRCh37] Chr4:4q25 |
uncertain significance |
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 disorder [RCV003971815] |
Chr4:107931872 [GRCh38] Chr4:108853028 [GRCh37] Chr4:4q25 |
likely benign |
NM_183075.3(CYP2U1):c.913C>T (p.His305Tyr) |
single nucleotide variant |
Hereditary spastic paraplegia 56 [RCV004595830] |
Chr4:107945392 [GRCh38] Chr4:108866548 [GRCh37] Chr4:4q25 |
pathogenic |
NM_183075.3(CYP2U1):c.1448T>C (p.Phe483Ser) |
single nucleotide variant |
not provided [RCV004775770] |
Chr4:107949509 [GRCh38] Chr4:108870665 [GRCh37] Chr4:4q25 |
uncertain significance |
NM_183075.3(CYP2U1):c.1472T>G (p.Met491Arg) |
single nucleotide variant |
not provided [RCV004775769] |
Chr4:107950260 [GRCh38] Chr4:108871416 [GRCh37] Chr4:4q25 |
uncertain significance |
NM_183075.3(CYP2U1):c.898_899insCA (p.Lys300fs) |
insertion |
Hereditary spastic paraplegia 56 [RCV004819972] |
Chr4:107945376..107945377 [GRCh38] Chr4:108866532..108866533 [GRCh37] Chr4:4q25 |
likely pathogenic |
NM_183075.3(CYP2U1):c.104G>C (p.Gly35Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004981487] |
Chr4:107931747 [GRCh38] Chr4:108852903 [GRCh37] Chr4:4q25 |
uncertain significance |
NM_183075.3(CYP2U1):c.1324A>G (p.Ile442Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004981488] |
Chr4:107949385 [GRCh38] Chr4:108870541 [GRCh37] Chr4:4q25 |
likely benign |
NM_183075.3(CYP2U1):c.527A>G (p.Gln176Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004981485] |
Chr4:107945006 [GRCh38] Chr4:108866162 [GRCh37] Chr4:4q25 |
uncertain significance |
NM_183075.3(CYP2U1):c.384G>A (p.Val128=) |
single nucleotide variant |
Spastic paraplegia [RCV005146384] |
Chr4:107932027 [GRCh38] Chr4:108853183 [GRCh37] Chr4:4q25 |
likely benign |
NM_183075.3(CYP2U1):c.1533C>T (p.Phe511=) |
single nucleotide variant |
Spastic paraplegia [RCV005185994] |
Chr4:107950321 [GRCh38] Chr4:108871477 [GRCh37] Chr4:4q25 |
likely benign |
NM_183075.3(CYP2U1):c.890del (p.Phe297fs) |
deletion |
Spastic paraplegia [RCV005151698] |
Chr4:107945367 [GRCh38] Chr4:108866523 [GRCh37] Chr4:4q25 |
pathogenic |
NM_183075.3(CYP2U1):c.1047C>G (p.Leu349=) |
single nucleotide variant |
Spastic paraplegia [RCV005193616] |
Chr4:107945526 [GRCh38] Chr4:108866682 [GRCh37] Chr4:4q25 |
likely benign |
NM_183075.3(CYP2U1):c.33C>A (p.Ala11=) |
single nucleotide variant |
Spastic paraplegia [RCV005126068] |
Chr4:107931676 [GRCh38] Chr4:108852832 [GRCh37] Chr4:4q25 |
likely benign |
NM_183075.3(CYP2U1):c.651del (p.Phe218fs) |
deletion |
Spastic paraplegia [RCV005179216] |
Chr4:107945127 [GRCh38] Chr4:108866283 [GRCh37] Chr4:4q25 |
pathogenic |
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.565G>C (p.Gly189Arg) |
single nucleotide variant |
Spastic paraplegia [RCV002544113]|not provided [RCV001755042] |
Chr4:107945044 [GRCh38] Chr4:108866200 [GRCh37] Chr4:4q25 |
uncertain significance |