NM_005154.5(USP8):c.1328A>G (p.Asp443Gly) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000542854]|not provided [RCV004715256] |
Chr15:50481590 [GRCh38] Chr15:50481590..50481591 [GRCh38] Chr15:50773787 [GRCh37] Chr15:50773787..50773788 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.2658+5_2658+8dup |
duplication |
Hereditary spastic paraplegia [RCV000550889]|not provided [RCV001356127] |
Chr15:50494282..50494283 [GRCh38] Chr15:50786479..50786480 [GRCh37] Chr15:15q21.2 |
likely benign|uncertain significance |
NM_005154.5(USP8):c.928C>A (p.Gln310Lys) |
single nucleotide variant |
not provided [RCV000087331] |
Chr15:50476927 [GRCh38] Chr15:50769124 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 |
copy number loss |
See cases [RCV000051619] |
Chr15:46042302..54195828 [GRCh38] Chr15:46334500..54488025 [GRCh37] Chr15:44121792..52275317 [NCBI36] Chr15:15q21.1-21.3 |
pathogenic |
GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|See cases [RCV000051620] |
Chr15:48695331..53923002 [GRCh38] Chr15:48987528..54215199 [GRCh37] Chr15:46774820..52002491 [NCBI36] Chr15:15q21.1-21.3 |
pathogenic |
NM_001128610.2(USP8):c.687-1732G>T |
single nucleotide variant |
Lung cancer [RCV000099539] |
Chr15:50469901 [GRCh38] Chr15:50762098 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3292T>G (p.Ser1098Ala) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001348238] |
Chr15:50499023 [GRCh38] Chr15:50791220 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) |
microsatellite |
Pituitary dependent hypercortisolism [RCV000149416] |
Chr15:50490442..50490444 [GRCh38] Chr15:50782639..50782641 [GRCh37] Chr15:15q21.2 |
pathogenic |
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) |
single nucleotide variant |
Pituitary dependent hypercortisolism [RCV000149417] |
Chr15:50490443 [GRCh38] Chr15:50782640 [GRCh37] Chr15:15q21.2 |
pathogenic |
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) |
single nucleotide variant |
Pituitary dependent hypercortisolism [RCV000149418] |
Chr15:50490444 [GRCh38] Chr15:50782641 [GRCh37] Chr15:15q21.2 |
pathogenic |
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) |
single nucleotide variant |
Pituitary dependent hypercortisolism [RCV000149420] |
Chr15:50490450 [GRCh38] Chr15:50782647 [GRCh37] Chr15:15q21.2 |
pathogenic |
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 |
copy number loss |
See cases [RCV000135639] |
Chr15:47460844..52494222 [GRCh38] Chr15:47753041..52786419 [GRCh37] Chr15:45540333..50573711 [NCBI36] Chr15:15q21.1-21.2 |
pathogenic |
NM_005154.5(USP8):c.1084A>G (p.Ile362Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000532955] |
Chr15:50477365 [GRCh38] Chr15:50769562 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2971C>T (p.Arg991Ter) |
single nucleotide variant |
not provided [RCV001169927] |
Chr15:50497164 [GRCh38] Chr15:50789361 [GRCh37] Chr15:15q21.2 |
pathogenic |
NM_005154.5(USP8):c.1448G>A (p.Arg483Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000557543]|USP8-related disorder [RCV003915496]|not provided [RCV004716522] |
Chr15:50481710 [GRCh38] Chr15:50773907 [GRCh37] Chr15:15q21.2 |
benign |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 |
copy number gain |
See cases [RCV000447123] |
Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)x1 |
copy number loss |
See cases [RCV000447625] |
Chr15:48940736..51309941 [GRCh37] Chr15:15q21.1-21.2 |
uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 |
copy number gain |
See cases [RCV000510717] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 |
copy number gain |
See cases [RCV000447765] |
Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 |
copy number loss |
See cases [RCV000448968] |
Chr15:41689327..52446981 [GRCh37] Chr15:15q15.1-21.2 |
pathogenic |
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala) |
single nucleotide variant |
not provided [RCV000509313] |
Chr15:50498687 [GRCh38] Chr15:50790884 [GRCh37] Chr15:15q21.2 |
not provided |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q21.2(chr15:50718893-51246087)x3 |
copy number gain |
See cases [RCV000510872] |
Chr15:50718893..51246087 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.397C>T (p.Arg133Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000633121]|not provided [RCV004691965] |
Chr15:50459061 [GRCh38] Chr15:50751258 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.802T>A (p.Leu268Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000535635]|not provided [RCV004715257] |
Chr15:50471748 [GRCh38] Chr15:50763945 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1857T>C (p.Phe619=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000536150]|not provided [RCV004716523] |
Chr15:50484328 [GRCh38] Chr15:50776525 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.823C>T (p.Arg275Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000633119] |
Chr15:50471769 [GRCh38] Chr15:50763966 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2443A>G (p.Asn815Asp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000633120] |
Chr15:50492909 [GRCh38] Chr15:50785106 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2511G>A (p.Leu837=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000633123]|not provided [RCV004716595] |
Chr15:50494133 [GRCh38] Chr15:50786330 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1296A>G (p.Gln432=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000633124] |
Chr15:50481558 [GRCh38] Chr15:50773755 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1162A>G (p.Lys388Glu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000633125]|not provided [RCV004716596] |
Chr15:50477443 [GRCh38] Chr15:50769640 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1042G>A (p.Ala348Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000559198]|not provided [RCV004715255] |
Chr15:50477323 [GRCh38] Chr15:50769520 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.3033G>A (p.Leu1011=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000557319]|not provided [RCV004716524] |
Chr15:50497226 [GRCh38] Chr15:50789423 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.583A>G (p.Lys195Glu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000633122] |
Chr15:50465088 [GRCh38] Chr15:50757285 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.2320C>G (p.Pro774Ala) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000700781] |
Chr15:50492786 [GRCh38] Chr15:50784983 [GRCh37] Chr15:15q21.2 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 |
copy number loss |
not provided [RCV000683686] |
Chr15:43759773..53252240 [GRCh37] Chr15:15q15.3-21.3 |
pathogenic |
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 |
copy number gain |
not provided [RCV000683691] |
Chr15:50727285..57603305 [GRCh37] Chr15:15q21.2-21.3 |
pathogenic |
NM_005154.5(USP8):c.335+7A>G |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000689968] |
Chr15:50449492 [GRCh38] Chr15:50741689 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.865G>A (p.Val289Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000691735] |
Chr15:50476864 [GRCh38] Chr15:50769061 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NC_000015.9:g.(?_50789266)_(50791305_?)dup |
duplication |
Hereditary spastic paraplegia [RCV000708299] |
Chr15:50497069..50499108 [GRCh38] Chr15:50789266..50791305 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 |
copy number gain |
not provided [RCV000751156] |
Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 |
copy number gain |
not provided [RCV000751155] |
Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
NM_005154.5(USP8):c.1675C>T (p.His559Tyr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000875024]|USP8-related disorder [RCV003908313]|not provided [RCV004715345] |
Chr15:50481937 [GRCh38] Chr15:50774134 [GRCh37] Chr15:15q21.2 |
benign|likely benign |
NM_005154.5(USP8):c.564A>G (p.Leu188=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000897089] |
Chr15:50465069 [GRCh38] Chr15:50757266 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1219-5T>C |
single nucleotide variant |
not provided [RCV000929557] |
Chr15:50481476 [GRCh38] Chr15:50773673 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.36C>T (p.Tyr12=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000972040] |
Chr15:50439109 [GRCh38] Chr15:50731306 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2895+3_2895+7dup |
duplication |
not provided [RCV000877553] |
Chr15:50496085..50496086 [GRCh38] Chr15:50788282..50788283 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.541+9G>A |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000876245] |
Chr15:50462331 [GRCh38] Chr15:50754528 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1148C>T (p.Pro383Leu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001431368] |
Chr15:50477429 [GRCh38] Chr15:50769626 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2754T>C (p.Asn918=) |
single nucleotide variant |
not provided [RCV000918075] |
Chr15:50495943 [GRCh38] Chr15:50788140 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1516A>C (p.Lys506Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000872191]|not provided [RCV003456447] |
Chr15:50481778 [GRCh38] Chr15:50773975 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.297C>A (p.Val99=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000875327] |
Chr15:50449447 [GRCh38] Chr15:50741644 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2383C>T (p.Leu795=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001454764] |
Chr15:50492849 [GRCh38] Chr15:50785046 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2331T>C (p.Thr777=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000874042] |
Chr15:50492797 [GRCh38] Chr15:50784994 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.24T>C (p.Pro8=) |
single nucleotide variant |
not provided [RCV000918841] |
Chr15:50439097 [GRCh38] Chr15:50731294 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.400C>T (p.Leu134=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000874746]|not provided [RCV004715344] |
Chr15:50459064 [GRCh38] Chr15:50751261 [GRCh37] Chr15:15q21.2 |
benign |
NM_203494.5(USP50):c.962G>C (p.Gly321Ala) |
single nucleotide variant |
not provided [RCV000948956] |
Chr15:50500812 [GRCh38] Chr15:50793009 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.2391C>T (p.Asn797=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005092648]|not provided [RCV000894705] |
Chr15:50492857 [GRCh38] Chr15:50785054 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1531G>C (p.Glu511Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000807610] |
Chr15:50481793 [GRCh38] Chr15:50773990 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2246A>G (p.Tyr749Cys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000815035] |
Chr15:50492712 [GRCh38] Chr15:50784909 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1 |
copy number loss |
not provided [RCV000848123] |
Chr15:50083229..53439931 [GRCh37] Chr15:15q21.2-21.3 |
uncertain significance |
NM_005154.5(USP8):c.1460A>G (p.Gln487Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000798738] |
Chr15:50481722 [GRCh38] Chr15:50773919 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1872C>T (p.Asp624=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000871151]|not provided [RCV004704237] |
Chr15:50484343 [GRCh38] Chr15:50776540 [GRCh37] Chr15:15q21.2 |
likely benign |
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 |
copy number gain |
not provided [RCV000849275] |
Chr15:49031132..56740397 [GRCh37] Chr15:15q21.1-21.3 |
pathogenic |
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 |
copy number gain |
not provided [RCV000845891] |
Chr15:48000433..60747551 [GRCh37] Chr15:15q21.1-22.2 |
pathogenic |
NM_005154.5(USP8):c.1922G>A (p.Ser641Asn) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001226138] |
Chr15:50489832 [GRCh38] Chr15:50782029 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.2(chr15:50727191-51138573)x3 |
copy number gain |
not provided [RCV000846770] |
Chr15:50727191..51138573 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NC_000015.9:g.(?_50731271)_(54025330_?)dup |
duplication |
not provided [RCV003105626] |
Chr15:50731271..54025330 [GRCh37] Chr15:15q21.2-21.3 |
uncertain significance |
NM_005154.5(USP8):c.1330C>T (p.Arg444Cys) |
single nucleotide variant |
Autosomal recessive spastic paraplegia type 59 [RCV004765340]|Hereditary spastic paraplegia [RCV002064746] |
Chr15:50481592 [GRCh38] Chr15:50773789 [GRCh37] Chr15:15q21.2 |
likely benign|uncertain significance |
NM_005154.5(USP8):c.2896-9T>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000874525] |
Chr15:50497080 [GRCh38] Chr15:50789277 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.250-8A>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005092919]|not provided [RCV000963316] |
Chr15:50449392 [GRCh38] Chr15:50741589 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.2634T>C (p.Asp878=) |
single nucleotide variant |
not provided [RCV000903868] |
Chr15:50494256 [GRCh38] Chr15:50786453 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.762G>A (p.Glu254=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002548235]|USP8-related disorder [RCV003942989]|not provided [RCV003392704] |
Chr15:50471708 [GRCh38] Chr15:50763905 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1015T>C (p.Leu339=) |
single nucleotide variant |
not provided [RCV000932087] |
Chr15:50477296 [GRCh38] Chr15:50769493 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.634G>A (p.Asp212Asn) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV000876098]|USP8-related disorder [RCV003955736] |
Chr15:50465139 [GRCh38] Chr15:50757336 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1464G>A (p.Glu488=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001517106] |
Chr15:50481726 [GRCh38] Chr15:50773923 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.2842G>C (p.Ala948Pro) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001207175] |
Chr15:50496031 [GRCh38] Chr15:50788228 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3105T>G (p.Leu1035=) |
single nucleotide variant |
not provided [RCV000890074] |
Chr15:50498662 [GRCh38] Chr15:50790859 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2235-9C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002548265] |
Chr15:50492692 [GRCh38] Chr15:50784889 [GRCh37] Chr15:15q21.2 |
likely benign |
GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1 |
copy number loss |
not provided [RCV001006685] |
Chr15:47192561..50819726 [GRCh37] Chr15:15q21.1-21.2 |
pathogenic |
NM_005154.5(USP8):c.-58G>C |
single nucleotide variant |
not provided [RCV001723043] |
Chr15:50439016 [GRCh38] Chr15:50731213 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1129A>G (p.Ile377Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001069592] |
Chr15:50477410 [GRCh38] Chr15:50769607 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.254A>C (p.Tyr85Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001215011] |
Chr15:50449404 [GRCh38] Chr15:50741601 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.886G>A (p.Val296Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001246142] |
Chr15:50476885 [GRCh38] Chr15:50769082 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2297A>G (p.Asn766Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001205749] |
Chr15:50492763 [GRCh38] Chr15:50784960 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001213502]|not provided [RCV004695185]|not specified [RCV002249800] |
Chr15:50499065 [GRCh38] Chr15:50791262 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.748A>C (p.Arg250=) |
single nucleotide variant |
not provided [RCV001257173] |
Chr15:50471694 [GRCh38] Chr15:50763891 [GRCh37] Chr15:15q21.2 |
likely benign |
NC_000015.9:g.(?_32964879)_(91358519_?)dup |
duplication |
Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] |
Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1 |
uncertain significance |
NM_005154.5(USP8):c.2291A>G (p.Asn764Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001294286] |
Chr15:50492757 [GRCh38] Chr15:50784954 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1 |
copy number loss |
not provided [RCV001270659] |
Chr15:48744917..53851050 [GRCh37] Chr15:15q21.1-21.3 |
pathogenic |
NM_005154.5(USP8):c.1120C>A (p.Pro374Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001370618] |
Chr15:50477401 [GRCh38] Chr15:50769598 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2307T>C (p.Phe769=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001415033] |
Chr15:50492773 [GRCh38] Chr15:50784970 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1053G>A (p.Thr351=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001421989] |
Chr15:50477334 [GRCh38] Chr15:50769531 [GRCh37] Chr15:15q21.2 |
likely benign |
NC_000015.9:g.(?_50731261)_(50791295_?)dup |
duplication |
Hereditary spastic paraplegia [RCV001362835] |
Chr15:50731261..50791295 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NC_000015.9:g.(?_50789266)_(50791305_?)dup |
duplication |
Hereditary spastic paraplegia [RCV001304847] |
Chr15:50789266..50791305 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1050G>T (p.Gln350His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001341214] |
Chr15:50477331 [GRCh38] Chr15:50769528 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1296= (p.Gln432=) |
variation |
Hereditary spastic paraplegia [RCV001515377]|not provided [RCV004715446] |
Chr15:50481558 [GRCh38] Chr15:50773755 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1840C>T (p.Leu614=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001497087] |
Chr15:50484311 [GRCh38] Chr15:50776508 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2215A>G (p.Thr739Ala) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001522628]|not provided [RCV004715473] |
Chr15:50490506 [GRCh38] Chr15:50782703 [GRCh37] Chr15:15q21.2 |
benign |
GRCh37/hg19 15q21.2(chr15:50550911-50902848) |
copy number loss |
Neurodevelopmental delay [RCV002280698] |
Chr15:50550911..50902848 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1540A>G (p.Ile514Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001889072] |
Chr15:50481802 [GRCh38] Chr15:50773999 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.775C>A (p.Leu259Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001874863] |
Chr15:50471721 [GRCh38] Chr15:50763918 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941) |
copy number loss |
not specified [RCV002052474] |
Chr15:48940736..51309941 [GRCh37] Chr15:15q21.1-21.2 |
uncertain significance |
GRCh37/hg19 15q21.2(chr15:50733977-51138579)x3 |
copy number gain |
not provided [RCV001832906] |
Chr15:50733977..51138579 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1726C>T (p.Pro576Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002003200] |
Chr15:50481988 [GRCh38] Chr15:50774185 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1597G>A (p.Ala533Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001926892] |
Chr15:50481859 [GRCh38] Chr15:50774056 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1310G>A (p.Ser437Asn) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002004595] |
Chr15:50481572 [GRCh38] Chr15:50773769 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908) |
copy number loss |
not specified [RCV002052472] |
Chr15:47635238..56509908 [GRCh37] Chr15:15q21.1-21.3 |
pathogenic |
NM_005154.5(USP8):c.2972G>A (p.Arg991Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001894769] |
Chr15:50497165 [GRCh38] Chr15:50789362 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2108C>A (p.Pro703His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001883586]|Pituitary dependent hypercortisolism [RCV002490098] |
Chr15:50490399 [GRCh38] Chr15:50782596 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NC_000015.9:g.(?_50789266)_(50791285_?)dup |
duplication |
Hereditary spastic paraplegia [RCV001920576] |
Chr15:50789266..50791285 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1925A>C (p.Glu642Ala) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001993947] |
Chr15:50489835 [GRCh38] Chr15:50782032 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2624T>C (p.Phe875Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002027187] |
Chr15:50494246 [GRCh38] Chr15:50786443 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.317C>G (p.Ser106Cys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001934338] |
Chr15:50449467 [GRCh38] Chr15:50741664 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1553A>C (p.Gln518Pro) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001875523] |
Chr15:50481815 [GRCh38] Chr15:50774012 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.587A>C (p.Asn196Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001981784] |
Chr15:50465092 [GRCh38] Chr15:50757289 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1775C>T (p.Ser592Phe) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001880873] |
Chr15:50482037 [GRCh38] Chr15:50774234 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1674A>T (p.Glu558Asp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV001978612] |
Chr15:50481936 [GRCh38] Chr15:50774133 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.659G>A (p.Ser220Asn) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002013869] |
Chr15:50465164 [GRCh38] Chr15:50757361 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2532T>C (p.Tyr844=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002105103] |
Chr15:50494154 [GRCh38] Chr15:50786351 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1692C>G (p.Ala564=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002071817] |
Chr15:50481954 [GRCh38] Chr15:50774151 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.3180C>T (p.Tyr1060=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002131003]|not provided [RCV004809789] |
Chr15:50498911 [GRCh38] Chr15:50791108 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.3038+16T>G |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002132239]|not provided [RCV004716873] |
Chr15:50497247 [GRCh38] Chr15:50789444 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.2121T>C (p.Asp707=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002135181] |
Chr15:50490412 [GRCh38] Chr15:50782609 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1090T>C (p.Leu364=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002117175] |
Chr15:50477371 [GRCh38] Chr15:50769568 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.104+16C>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002132490]|not provided [RCV004716874] |
Chr15:50439193 [GRCh38] Chr15:50731390 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.2287C>T (p.Arg763Trp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002132358]|not provided [RCV004715604] |
Chr15:50492753 [GRCh38] Chr15:50784950 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1365C>T (p.Leu455=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002108514] |
Chr15:50481627 [GRCh38] Chr15:50773824 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2292C>A (p.Asn764Lys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002139107]|not provided [RCV004715621] |
Chr15:50492758 [GRCh38] Chr15:50784955 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1773A>C (p.Thr591=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002218779] |
Chr15:50482035 [GRCh38] Chr15:50774232 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.249+21_249+23del |
deletion |
Hereditary spastic paraplegia [RCV002160279] |
Chr15:50441512..50441514 [GRCh38] Chr15:50733709..50733711 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.250-15T>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002118626] |
Chr15:50449385 [GRCh38] Chr15:50741582 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.3172-16_3172-13dup |
duplication |
Hereditary spastic paraplegia [RCV002136910] |
Chr15:50498883..50498884 [GRCh38] Chr15:50791080..50791081 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.1434A>G (p.Gln478=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002124007] |
Chr15:50481696 [GRCh38] Chr15:50773893 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2523G>A (p.Gln841=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002122260] |
Chr15:50494145 [GRCh38] Chr15:50786342 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1052C>T (p.Thr351Met) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003122069] |
Chr15:50477333 [GRCh38] Chr15:50769530 [GRCh37] Chr15:15q21.2 |
benign |
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 |
copy number gain |
not provided [RCV002472512] |
Chr15:48589845..63543438 [GRCh37] Chr15:15q21.1-22.2 |
pathogenic |
GRCh37/hg19 15q21.2(chr15:50705605-50770917)x1 |
copy number loss |
not provided [RCV002475780] |
Chr15:50705605..50770917 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1873G>A (p.Asp625Asn) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002971231] |
Chr15:50484344 [GRCh38] Chr15:50776541 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2519G>A (p.Gly840Glu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002843701] |
Chr15:50494141 [GRCh38] Chr15:50786338 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.952_955dup (p.Pro319fs) |
duplication |
Hereditary spastic paraplegia [RCV002867115] |
Chr15:50476948..50476949 [GRCh38] Chr15:50769145..50769146 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3018G>A (p.Val1006=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003081208] |
Chr15:50497211 [GRCh38] Chr15:50789408 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1213C>T (p.Pro405Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002926647] |
Chr15:50477494 [GRCh38] Chr15:50769691 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.268C>T (p.Leu90Phe) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002640037] |
Chr15:50449418 [GRCh38] Chr15:50741615 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1891-17T>A |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002927408] |
Chr15:50489784 [GRCh38] Chr15:50781981 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.479C>G (p.Ser160Cys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002952985] |
Chr15:50459143 [GRCh38] Chr15:50751340 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2983C>G (p.Leu995Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003040732] |
Chr15:50497176 [GRCh38] Chr15:50789373 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1022A>G (p.Glu341Gly) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002742011] |
Chr15:50477303 [GRCh38] Chr15:50769500 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.802T>G (p.Leu268Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003057405] |
Chr15:50471748 [GRCh38] Chr15:50763945 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.335+4C>G |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002791222] |
Chr15:50449489 [GRCh38] Chr15:50741686 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2235-20G>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002581951] |
Chr15:50492681 [GRCh38] Chr15:50784878 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.499-13T>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002933918] |
Chr15:50462267 [GRCh38] Chr15:50754464 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.3119A>G (p.Tyr1040Cys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003063636] |
Chr15:50498676 [GRCh38] Chr15:50790873 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.515A>G (p.Asn172Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002632108] |
Chr15:50462296 [GRCh38] Chr15:50754493 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3335G>A (p.Arg1112Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003067338] |
Chr15:50499066 [GRCh38] Chr15:50791263 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3326T>C (p.Leu1109Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002725829] |
Chr15:50499057 [GRCh38] Chr15:50791254 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1218+17A>T |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002944106] |
Chr15:50477516 [GRCh38] Chr15:50769713 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1972-20T>G |
single nucleotide variant |
Hereditary spastic paraplegia [RCV002587949] |
Chr15:50490243 [GRCh38] Chr15:50782440 [GRCh37] Chr15:15q21.2 |
likely benign |
GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1 |
copy number loss |
not provided [RCV003326927] |
Chr15:49775348..51221365 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1 |
copy number loss |
not provided [RCV003483230] |
Chr15:49390592..56800964 [GRCh37] Chr15:15q21.1-21.3 |
pathogenic |
Single allele |
deletion |
not provided [RCV003448697] |
Chr15:41321409..51718601 [GRCh37] Chr15:15q15.1-21.2 |
pathogenic |
GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1 |
copy number loss |
not provided [RCV003483233] |
Chr15:50582422..51322910 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.2(chr15:50595262-51210478)x3 |
copy number gain |
not provided [RCV003485065] |
Chr15:50595262..51210478 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.2(chr15:50749119-51455096)x3 |
copy number gain |
not provided [RCV003485066] |
Chr15:50749119..51455096 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.964C>T (p.Arg322Ter) |
single nucleotide variant |
USP8-related disorder [RCV003399819] |
Chr15:50476963 [GRCh38] Chr15:50769160 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1551G>A (p.Lys517=) |
single nucleotide variant |
not provided [RCV003394838] |
Chr15:50481813 [GRCh38] Chr15:50774010 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.824G>A (p.Arg275Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646447] |
Chr15:50471770 [GRCh38] Chr15:50763967 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1299A>G (p.Gln433=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646013] |
Chr15:50481561 [GRCh38] Chr15:50773758 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.104+17G>A |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646122] |
Chr15:50439194 [GRCh38] Chr15:50731391 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1151T>A (p.Val384Asp) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646789] |
Chr15:50477432 [GRCh38] Chr15:50769629 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3290A>T (p.Lys1097Ile) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646279] |
Chr15:50499021 [GRCh38] Chr15:50791218 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1878C>T (p.Thr626=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646830] |
Chr15:50484349 [GRCh38] Chr15:50776546 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.2746C>A (p.Gln916Lys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646845] |
Chr15:50495935 [GRCh38] Chr15:50788132 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1947A>G (p.Pro649=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646943] |
Chr15:50489857 [GRCh38] Chr15:50782054 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.542-19T>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646438] |
Chr15:50465028 [GRCh38] Chr15:50757225 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1148C>A (p.Pro383Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003876093] |
Chr15:50477429 [GRCh38] Chr15:50769626 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1896A>G (p.Gln632=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003647084] |
Chr15:50489806 [GRCh38] Chr15:50782003 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.104+20A>G |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646428] |
Chr15:50439197 [GRCh38] Chr15:50731394 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.104+5G>C |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003647101] |
Chr15:50439182 [GRCh38] Chr15:50731379 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.965G>A (p.Arg322Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646604]|USP8-related disorder [RCV003901267] |
Chr15:50476964 [GRCh38] Chr15:50769161 [GRCh37] Chr15:15q21.2 |
likely benign|uncertain significance |
NM_005154.5(USP8):c.578C>T (p.Thr193Met) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646635] |
Chr15:50465083 [GRCh38] Chr15:50757280 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.494A>T (p.Gln165Leu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003646031] |
Chr15:50459158 [GRCh38] Chr15:50751355 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1859G>A (p.Arg620Lys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003645993] |
Chr15:50484330 [GRCh38] Chr15:50776527 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.513G>C (p.Lys171Asn) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003534288] |
Chr15:50462294 [GRCh38] Chr15:50754491 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.530C>G (p.Thr177Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003534228] |
Chr15:50462311 [GRCh38] Chr15:50754508 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.297C>T (p.Val99=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003534142] |
Chr15:50449447 [GRCh38] Chr15:50741644 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1219-20C>G |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003534178] |
Chr15:50481461 [GRCh38] Chr15:50773658 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.808A>G (p.Ile270Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003534235] |
Chr15:50471754 [GRCh38] Chr15:50763951 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3079T>A (p.Ser1027Thr) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003534202] |
Chr15:50498636 [GRCh38] Chr15:50790833 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1620C>T (p.Thr540=) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003531532] |
Chr15:50481882 [GRCh38] Chr15:50774079 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.3038+22_3038+24del |
microsatellite |
Hereditary spastic paraplegia [RCV003842531] |
Chr15:50497249..50497251 [GRCh38] Chr15:50789446..50789448 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_005154.5(USP8):c.1573A>T (p.Met525Leu) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV003824106] |
Chr15:50481835 [GRCh38] Chr15:50774032 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2835A>T (p.Thr945=) |
single nucleotide variant |
not provided [RCV003886967] |
Chr15:50496024 [GRCh38] Chr15:50788221 [GRCh37] Chr15:15q21.2 |
likely benign |
NM_203494.5(USP50):c.1000G>C (p.Ala334Pro) |
single nucleotide variant |
not specified [RCV004477585] |
Chr15:50500774 [GRCh38] Chr15:50792971 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NC_000015.9:g.(?_50731271)_(51634264_?)dup |
duplication |
not provided [RCV004583141] |
Chr15:50731271..51634264 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.673G>A (p.Ala225Thr) |
single nucleotide variant |
USP8-related disorder [RCV004752441] |
Chr15:50465178 [GRCh38] Chr15:50757375 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2861T>C (p.Leu954Pro) |
single nucleotide variant |
not provided [RCV004810068] |
Chr15:50496050 [GRCh38] Chr15:50788247 [GRCh37] Chr15:15q21.2 |
uncertain significance |
GRCh37/hg19 15q21.2(chr15:50512187-50905780)x1 |
copy number loss |
not provided [RCV004819872] |
Chr15:50512187..50905780 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1301CTC[1] (p.Pro435del) |
microsatellite |
Hereditary spastic paraplegia [RCV005195354] |
Chr15:50481563..50481565 [GRCh38] Chr15:50773760..50773762 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2879_2895+12dup |
duplication |
Hereditary spastic paraplegia [RCV005171066] |
Chr15:50496066..50496067 [GRCh38] Chr15:50788263..50788264 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2320C>T (p.Pro774Ser) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005179592] |
Chr15:50492786 [GRCh38] Chr15:50784983 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.286A>C (p.Lys96Gln) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005206648] |
Chr15:50449436 [GRCh38] Chr15:50741633 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.3353C>A (p.Thr1118Lys) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005190452] |
Chr15:50499084 [GRCh38] Chr15:50791281 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2896-8dup |
duplication |
Hereditary spastic paraplegia [RCV005144297] |
Chr15:50497074..50497075 [GRCh38] Chr15:50789271..50789272 [GRCh37] Chr15:15q21.2 |
benign |
NM_005154.5(USP8):c.407A>C (p.Gln136Pro) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005168989] |
Chr15:50459071 [GRCh38] Chr15:50751268 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.930G>T (p.Gln310His) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005138806] |
Chr15:50476929 [GRCh38] Chr15:50769126 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1637A>G (p.Lys546Arg) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005137116] |
Chr15:50481899 [GRCh38] Chr15:50774096 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.988A>G (p.Ile330Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005083594] |
Chr15:50476987 [GRCh38] Chr15:50769184 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.2809C>T (p.Leu937Phe) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005180067] |
Chr15:50495998 [GRCh38] Chr15:50788195 [GRCh37] Chr15:15q21.2 |
uncertain significance |
NM_005154.5(USP8):c.1793G>T (p.Gly598Val) |
single nucleotide variant |
Hereditary spastic paraplegia [RCV005111543] |
Chr15:50482055 [GRCh38] Chr15:50774252 [GRCh37] Chr15:15q21.2 |
uncertain significance |