| NM_004181.5(UCHL1):c.279C>G (p.Ile93Met) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000013091] |
Chr4:41260751 [GRCh38]
Chr4:41262768 [GRCh37]
Chr4:4p13 |
pathogenic|risk factor |
| NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) |
single nucleotide variant |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV002243640]|Parkinson disease 5, autosomal dominant, susceptibility to [RCV000013092]|not provided [RCV001711069] |
Chr4:41257616 [GRCh38]
Chr4:41259633 [GRCh37]
Chr4:4p13 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala) |
single nucleotide variant |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000074332]|not provided [RCV002514325] |
Chr4:41256996 [GRCh38]
Chr4:41259013 [GRCh37]
Chr4:4p13 |
pathogenic |
| NM_004181.4(UCHL1):c.480C>T (p.Phe160=) |
single nucleotide variant |
Malignant melanoma [RCV000060992] |
Chr4:41263245 [GRCh38]
Chr4:41265262 [GRCh37]
Chr4:40960019 [NCBI36]
Chr4:4p13 |
not provided |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
See cases [RCV002292704] |
Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 |
copy number gain |
See cases [RCV000134946] |
Chr4:40496476..49579850 [GRCh38]
Chr4:40498493..49581867 [GRCh37]
Chr4:40193250..49276624 [NCBI36]
Chr4:4p14-11 |
pathogenic |
| GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 |
copy number gain |
See cases [RCV000137261] |
Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12 |
pathogenic |
| GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3 |
copy number gain |
See cases [RCV000138039] |
Chr4:39444586..46117146 [GRCh38]
Chr4:39446206..46119163 [GRCh37]
Chr4:39122601..45813920 [NCBI36]
Chr4:4p14-12 |
uncertain significance |
| GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 |
copy number gain |
See cases [RCV000240190] |
Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11 |
pathogenic |
| NM_004181.5(UCHL1):c.370A>C (p.Met124Leu) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144813]|not provided [RCV002057266]|not specified [RCV000239068] |
Chr4:41261759 [GRCh38]
Chr4:41263776 [GRCh37]
Chr4:4p13 |
likely benign|uncertain significance |
| NM_004181.5(UCHL1):c.*309T>C |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000267670] |
Chr4:41268382 [GRCh38]
Chr4:41270399 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.-47C>T |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000283383] |
Chr4:41256930 [GRCh38]
Chr4:41258947 [GRCh37]
Chr4:4p13 |
uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 |
copy number gain |
See cases [RCV000240562] |
Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| NM_004181.5(UCHL1):c.513C>T (p.His171=) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000397408]|not provided [RCV000880496] |
Chr4:41263278 [GRCh38]
Chr4:41265295 [GRCh37]
Chr4:4p13 |
likely benign|uncertain significance |
| NM_004181.5(UCHL1):c.-16C>T |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000375330]|not provided [RCV001636973] |
Chr4:41256961 [GRCh38]
Chr4:41258978 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.609A>G (p.Glu203=) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000399103]|Parkinson disease 5, autosomal dominant, susceptibility to [RCV002502344]|not provided [RCV000903118] |
Chr4:41268010 [GRCh38]
Chr4:41270027 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.45+6T>C |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000336010]|not provided [RCV001660730] |
Chr4:41257132 [GRCh38]
Chr4:41259149 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.-24A>G |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000337079]|not provided [RCV001692000] |
Chr4:41256953 [GRCh38]
Chr4:41258970 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.4(UCHL1):c.-71C>G |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000380128] |
Chr4:41256906 [GRCh38]
Chr4:41258923 [GRCh37]
Chr4:4p13 |
benign|uncertain significance |
| NM_004181.5(UCHL1):c.*294G>A |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000360018] |
Chr4:41268367 [GRCh38]
Chr4:41270384 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.527-3C>T |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000308637] |
Chr4:41264100 [GRCh38]
Chr4:41266117 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.558C>T (p.Gly186=) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000365722]|not provided [RCV000965672] |
Chr4:41264134 [GRCh38]
Chr4:41266151 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.175-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002520242]|Parkinson disease 5, autosomal dominant, susceptibility to [RCV000296152]|not provided [RCV000916150] |
Chr4:41260642 [GRCh38]
Chr4:41262659 [GRCh37]
Chr4:4p13 |
benign|likely benign|uncertain significance |
| NM_004181.5(UCHL1):c.326-4del |
deletion |
Parkinson Disease, Dominant [RCV000348738]|Parkinson disease 5, autosomal dominant, susceptibility to [RCV002480217]|not provided [RCV002057929] |
Chr4:41261702 [GRCh38]
Chr4:41263719 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.33+5G>C |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000278546] |
Chr4:41257014 [GRCh38]
Chr4:41259031 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.*125C>T |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV000307478] |
Chr4:41268198 [GRCh38]
Chr4:41270215 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.385_388dup (p.Ala130fs) |
microsatellite |
not provided [RCV000584842] |
Chr4:41261773..41261774 [GRCh38]
Chr4:41263790..41263791 [GRCh37]
Chr4:4p13 |
likely pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not specified [RCV003986479] |
Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 |
copy number gain |
See cases [RCV000446451] |
Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11 |
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_004181.5(UCHL1):c.533G>A (p.Arg178Gln) |
single nucleotide variant |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000417182]|Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146776] |
Chr4:41264109 [GRCh38]
Chr4:41266126 [GRCh37]
Chr4:4p13 |
pathogenic|uncertain significance |
| NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp) |
single nucleotide variant |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000417145] |
Chr4:41268048 [GRCh38]
Chr4:41270065 [GRCh37]
Chr4:4p13 |
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 |
| GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 |
copy number gain |
See cases [RCV000511193] |
Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1 |
pathogenic |
| NM_004181.5(UCHL1):c.608A>G (p.Glu203Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003285320] |
Chr4:41268009 [GRCh38]
Chr4:41270026 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.459+2T>C |
single nucleotide variant |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV000625742] |
Chr4:41261925 [GRCh38]
Chr4:41263942 [GRCh37]
Chr4:4p13 |
likely pathogenic |
| 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 |
| GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 |
copy number gain |
not provided [RCV000682363] |
Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11 |
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 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 4p16.3-11(chr4:1356924-49659859)x3 |
copy number gain |
not provided [RCV000743201] |
Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11 |
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 |
| GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 |
copy number gain |
not provided [RCV000743154] |
Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12 |
pathogenic |
| NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146775]|not provided [RCV002557146] |
Chr4:41261921 [GRCh38]
Chr4:41263938 [GRCh37]
Chr4:4p13 |
likely benign|uncertain significance |
| NM_004181.5(UCHL1):c.*276T>A |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147680] |
Chr4:41268349 [GRCh38]
Chr4:41270366 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.412-4G>A |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144814]|not provided [RCV000906908] |
Chr4:41261872 [GRCh38]
Chr4:41263889 [GRCh37]
Chr4:4p13 |
likely benign|uncertain significance |
| NM_004181.5(UCHL1):c.69C>T (p.Ala23=) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144810]|not provided [RCV000950668] |
Chr4:41257632 [GRCh38]
Chr4:41259649 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.648C>T (p.Ala216=) |
single nucleotide variant |
not provided [RCV000916212] |
Chr4:41268049 [GRCh38]
Chr4:41270066 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.4(UCHL1):c.-59C>G |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147585] |
Chr4:41256918 [GRCh38]
Chr4:41258935 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.*84C>G |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146778] |
Chr4:41268157 [GRCh38]
Chr4:41270174 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.-46T>C |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150909] |
Chr4:41256931 [GRCh38]
Chr4:41258948 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.-26C>T |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150910] |
Chr4:41256951 [GRCh38]
Chr4:41258968 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.-17C>T |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150912] |
Chr4:41256960 [GRCh38]
Chr4:41258977 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.4(UCHL1):c.-51C>A |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147586] |
Chr4:41256926 [GRCh38]
Chr4:41258943 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.423A>G (p.Ala141=) |
single nucleotide variant |
not provided [RCV003106472] |
Chr4:41261887 [GRCh38]
Chr4:41263904 [GRCh37]
Chr4:4p13 |
likely benign |
| NC_000004.12:g.41256745G>A |
single nucleotide variant |
not provided [RCV001689413] |
Chr4:41256745 [GRCh38]
Chr4:41258762 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.45+19C>A |
single nucleotide variant |
not provided [RCV001694537] |
Chr4:41257145 [GRCh38]
Chr4:41259162 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.162C>T (p.Pro54=) |
single nucleotide variant |
not provided [RCV000937053] |
Chr4:41257725 [GRCh38]
Chr4:41259742 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.435C>T (p.Ala145=) |
single nucleotide variant |
not provided [RCV000956191] |
Chr4:41261899 [GRCh38]
Chr4:41263916 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.326-4dup |
duplication |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV002225137]|not provided [RCV001579417]|not specified [RCV001727905] |
Chr4:41261701..41261702 [GRCh38]
Chr4:41263718..41263719 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.527-74C>A |
single nucleotide variant |
not provided [RCV001596697] |
Chr4:41264029 [GRCh38]
Chr4:41266046 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.527-199A>G |
single nucleotide variant |
not provided [RCV001599190] |
Chr4:41263904 [GRCh38]
Chr4:41265921 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.174+183G>A |
single nucleotide variant |
not provided [RCV001676738] |
Chr4:41257920 [GRCh38]
Chr4:41259937 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.527-131C>G |
single nucleotide variant |
not provided [RCV001594794] |
Chr4:41263972 [GRCh38]
Chr4:41265989 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.527-126C>A |
single nucleotide variant |
not provided [RCV001638462] |
Chr4:41263977 [GRCh38]
Chr4:41265994 [GRCh37]
Chr4:4p13 |
benign |
| NR_102709.1(UCHL1-DT):n.33C>G |
single nucleotide variant |
not provided [RCV001716681] |
Chr4:41256695 [GRCh38]
Chr4:41258712 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.45+97C>G |
single nucleotide variant |
not provided [RCV001650726] |
Chr4:41257223 [GRCh38]
Chr4:41259240 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.174+6G>A |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144811] |
Chr4:41257743 [GRCh38]
Chr4:41259760 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.223G>A (p.Val75Ile) |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001144812]|not provided [RCV002557095] |
Chr4:41260695 [GRCh38]
Chr4:41262712 [GRCh37]
Chr4:4p13 |
uncertain significance |
| GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 |
copy number gain |
See cases [RCV001194594] |
Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11 |
pathogenic |
| NM_004181.5(UCHL1):c.-25T>C |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001150911] |
Chr4:41256952 [GRCh38]
Chr4:41258969 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.586-4C>A |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001146777] |
Chr4:41267983 [GRCh38]
Chr4:41270000 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.*250T>C |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV001147679]|Parkinson disease 5, autosomal dominant, susceptibility to [RCV002480543] |
Chr4:41268323 [GRCh38]
Chr4:41270340 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NR_102709.1(UCHL1-DT):n.57T>C |
single nucleotide variant |
not provided [RCV001642118] |
Chr4:41256671 [GRCh38]
Chr4:41258688 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.64dup (p.Val22fs) |
duplication |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003225965]|not provided [RCV001267902] |
Chr4:41257622..41257623 [GRCh38]
Chr4:41259639..41259640 [GRCh37]
Chr4:4p13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_004181.5(UCHL1):c.349_364del (p.Phe117fs) |
deletion |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152622]|not provided [RCV001268796] |
Chr4:41261727..41261742 [GRCh38]
Chr4:41263744..41263759 [GRCh37]
Chr4:4p13 |
pathogenic|likely pathogenic |
| NM_004181.5(UCHL1):c.45+95C>T |
single nucleotide variant |
not provided [RCV001786793] |
Chr4:41257221 [GRCh38]
Chr4:41259238 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.585+117C>T |
single nucleotide variant |
not provided [RCV001666724] |
Chr4:41264278 [GRCh38]
Chr4:41266295 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.460-252_460-249del |
deletion |
not provided [RCV001716280] |
Chr4:41262970..41262973 [GRCh38]
Chr4:41264987..41264990 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.460-149T>C |
single nucleotide variant |
not provided [RCV001710586] |
Chr4:41263076 [GRCh38]
Chr4:41265093 [GRCh37]
Chr4:4p13 |
benign |
| NR_102709.1(UCHL1-DT):n.58T>C |
single nucleotide variant |
not provided [RCV001669555] |
Chr4:41256670 [GRCh38]
Chr4:41258687 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.526+221_526+222del |
deletion |
not provided [RCV001685814] |
Chr4:41263511..41263512 [GRCh38]
Chr4:41265528..41265529 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.23T>C (p.Ile8Thr) |
single nucleotide variant |
not provided [RCV001727288] |
Chr4:41256999 [GRCh38]
Chr4:41259016 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.174+46C>A |
single nucleotide variant |
not provided [RCV001786662] |
Chr4:41257783 [GRCh38]
Chr4:41259800 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.*245C>T |
single nucleotide variant |
not provided [RCV001786660] |
Chr4:41268318 [GRCh38]
Chr4:41270335 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.34-19C>T |
single nucleotide variant |
not provided [RCV001757567] |
Chr4:41257096 [GRCh38]
Chr4:41259113 [GRCh37]
Chr4:4p13 |
benign|likely benign |
| NM_004181.5(UCHL1):c.46-199C>G |
single nucleotide variant |
not provided [RCV001777000] |
Chr4:41257410 [GRCh38]
Chr4:41259427 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.326-133C>T |
single nucleotide variant |
not provided [RCV001847450] |
Chr4:41261582 [GRCh38]
Chr4:41263599 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.586-35G>A |
single nucleotide variant |
not provided [RCV001847451] |
Chr4:41267952 [GRCh38]
Chr4:41269969 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.460-2A>G |
single nucleotide variant |
not provided [RCV001985193] |
Chr4:41263223 [GRCh38]
Chr4:41265240 [GRCh37]
Chr4:4p13 |
likely pathogenic|uncertain significance |
| NM_004181.5(UCHL1):c.411+19C>T |
single nucleotide variant |
not provided [RCV001914017] |
Chr4:41261819 [GRCh38]
Chr4:41263836 [GRCh37]
Chr4:4p13 |
likely benign|uncertain significance |
| NM_004181.5(UCHL1):c.326-177G>A |
single nucleotide variant |
not provided [RCV001847449] |
Chr4:41261538 [GRCh38]
Chr4:41263555 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.411+8A>T |
single nucleotide variant |
not provided [RCV001965643] |
Chr4:41261808 [GRCh38]
Chr4:41263825 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.280G>A (p.Gly94Arg) |
single nucleotide variant |
not provided [RCV001961416] |
Chr4:41260752 [GRCh38]
Chr4:41262769 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.615C>T (p.Thr205=) |
single nucleotide variant |
not provided [RCV001956244] |
Chr4:41268016 [GRCh38]
Chr4:41270033 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.256A>G (p.Ile86Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002562059]|not provided [RCV001959973] |
Chr4:41260728 [GRCh38]
Chr4:41262745 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.425C>T (p.Ala142Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002555687]|not provided [RCV001907084] |
Chr4:41261889 [GRCh38]
Chr4:41263906 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.30del (p.Glu11fs) |
deletion |
not provided [RCV001979899] |
Chr4:41257003 [GRCh38]
Chr4:41259020 [GRCh37]
Chr4:4p13 |
pathogenic|uncertain significance |
| NC_000004.11:g.(?_38765721)_(41750627_?)dup |
duplication |
Lipoic acid synthetase deficiency [RCV003107887] |
Chr4:38765721..41750627 [GRCh37]
Chr4:4p14-13 |
uncertain significance |
| NM_004181.5(UCHL1):c.532C>T (p.Arg178Ter) |
single nucleotide variant |
not provided [RCV001917151] |
Chr4:41264108 [GRCh38]
Chr4:41266125 [GRCh37]
Chr4:4p13 |
pathogenic|uncertain significance |
| NM_004181.5(UCHL1):c.506A>G (p.Asp169Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004042210]|not provided [RCV001977138] |
Chr4:41263271 [GRCh38]
Chr4:41265288 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.175-4G>A |
single nucleotide variant |
Parkinson disease 5, autosomal dominant, susceptibility to [RCV002500142]|not provided [RCV002091902] |
Chr4:41260643 [GRCh38]
Chr4:41262660 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.555T>C (p.His185=) |
single nucleotide variant |
not provided [RCV002086515] |
Chr4:41264131 [GRCh38]
Chr4:41266148 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.175-18C>T |
single nucleotide variant |
not provided [RCV002087634] |
Chr4:41260629 [GRCh38]
Chr4:41262646 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.175-10A>G |
single nucleotide variant |
not provided [RCV002167505] |
Chr4:41260637 [GRCh38]
Chr4:41262654 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.175-17G>A |
single nucleotide variant |
not provided [RCV002149589] |
Chr4:41260630 [GRCh38]
Chr4:41262647 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.648C>A (p.Ala216=) |
single nucleotide variant |
not provided [RCV002214317] |
Chr4:41268049 [GRCh38]
Chr4:41270066 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.325+7G>A |
single nucleotide variant |
not provided [RCV002192116] |
Chr4:41260804 [GRCh38]
Chr4:41262821 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.46-6C>T |
single nucleotide variant |
not provided [RCV002097379] |
Chr4:41257603 [GRCh38]
Chr4:41259620 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.326-5_326-4dup |
duplication |
not provided [RCV002080137] |
Chr4:41261701..41261702 [GRCh38]
Chr4:41263718..41263719 [GRCh37]
Chr4:4p13 |
benign |
| NM_004181.5(UCHL1):c.444G>A (p.Gln148=) |
single nucleotide variant |
not provided [RCV002085324] |
Chr4:41261908 [GRCh38]
Chr4:41263925 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.175-18C>A |
single nucleotide variant |
not provided [RCV002199781] |
Chr4:41260629 [GRCh38]
Chr4:41262646 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.459+11del |
deletion |
not provided [RCV002143182] |
Chr4:41261932 [GRCh38]
Chr4:41263949 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.45+15_45+24dup |
duplication |
not provided [RCV002177228] |
Chr4:41257134..41257135 [GRCh38]
Chr4:41259151..41259152 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.34-7C>G |
single nucleotide variant |
not provided [RCV003121056] |
Chr4:41257108 [GRCh38]
Chr4:41259125 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.4:c.64_dup |
duplication |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152405] |
|
pathogenic |
| NM_004181.5(UCHL1):c.73C>T (p.Gln25Ter) |
single nucleotide variant |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152407] |
Chr4:41257636 [GRCh38]
Chr4:41259653 [GRCh37]
Chr4:4p13 |
pathogenic |
| NM_004181.5(UCHL1):c.95_98dup (p.Leu34fs) |
duplication |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152408] |
Chr4:41257657..41257658 [GRCh38]
Chr4:41259674..41259675 [GRCh37]
Chr4:4p13 |
pathogenic |
| NM_004181.5(UCHL1):c.250C>T (p.Gln84Ter) |
single nucleotide variant |
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV002272926] |
Chr4:41260722 [GRCh38]
Chr4:41262739 [GRCh37]
Chr4:4p13 |
likely pathogenic |
| GRCh37/hg19 4p14-13(chr4:40337485-41941400) |
copy number loss |
not provided [RCV003236738] |
Chr4:40337485..41941400 [GRCh37]
Chr4:4p14-13 |
pathogenic |
| GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 |
copy number gain |
FETAL DEMISE [RCV002282978] |
Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12 |
pathogenic |
| NM_004181.5(UCHL1):c.552C>G (p.Asn184Lys) |
single nucleotide variant |
not provided [RCV003012418] |
Chr4:41264128 [GRCh38]
Chr4:41266145 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.149T>C (p.Leu50Pro) |
single nucleotide variant |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV004584173] |
Chr4:41257712 [GRCh38]
Chr4:41259729 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.326-16C>A |
single nucleotide variant |
not provided [RCV003017393] |
Chr4:41261699 [GRCh38]
Chr4:41263716 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.407A>G (p.Asn136Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002949733]|not provided [RCV002967600] |
Chr4:41261796 [GRCh38]
Chr4:41263813 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.540T>G (p.Pro180=) |
single nucleotide variant |
not provided [RCV002815932] |
Chr4:41264116 [GRCh38]
Chr4:41266133 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.213G>A (p.Lys71=) |
single nucleotide variant |
not provided [RCV002863607] |
Chr4:41260685 [GRCh38]
Chr4:41262702 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.46-15G>T |
single nucleotide variant |
not provided [RCV002617484] |
Chr4:41257594 [GRCh38]
Chr4:41259611 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.113C>T (p.Ser38Phe) |
single nucleotide variant |
not provided [RCV002690192] |
Chr4:41257676 [GRCh38]
Chr4:41259693 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.279C>T (p.Ile93=) |
single nucleotide variant |
not provided [RCV002593320] |
Chr4:41260751 [GRCh38]
Chr4:41262768 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu) |
microsatellite |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003152652]|not provided [RCV002976538] |
Chr4:41257706..41257707 [GRCh38]
Chr4:41259723..41259724 [GRCh37]
Chr4:4p13 |
pathogenic|uncertain significance |
| NM_004181.5(UCHL1):c.16A>T (p.Met6Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002869795] |
Chr4:41256992 [GRCh38]
Chr4:41259009 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.411+14_411+15del |
deletion |
not provided [RCV002796923] |
Chr4:41261813..41261814 [GRCh38]
Chr4:41263830..41263831 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.527-7_527-5dup |
duplication |
not provided [RCV002846243] |
Chr4:41264093..41264094 [GRCh38]
Chr4:41266110..41266111 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.34-8C>G |
single nucleotide variant |
not provided [RCV002569490] |
Chr4:41257107 [GRCh38]
Chr4:41259124 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.586-8C>T |
single nucleotide variant |
not provided [RCV002846528] |
Chr4:41267979 [GRCh38]
Chr4:41269996 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.460G>A (p.Val154Ile) |
single nucleotide variant |
not provided [RCV002622494] |
Chr4:41263225 [GRCh38]
Chr4:41265242 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.585+24_585+26del |
microsatellite |
not provided [RCV002705586] |
Chr4:41264181..41264183 [GRCh38]
Chr4:41266198..41266200 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.374C>T (p.Ser125Phe) |
single nucleotide variant |
not provided [RCV002690634] |
Chr4:41261763 [GRCh38]
Chr4:41263780 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.33+19G>A |
single nucleotide variant |
not provided [RCV002790862] |
Chr4:41257028 [GRCh38]
Chr4:41259045 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.325+13T>G |
single nucleotide variant |
not provided [RCV002667514] |
Chr4:41260810 [GRCh38]
Chr4:41262827 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.90C>A (p.Asp30Glu) |
single nucleotide variant |
not provided [RCV002895041] |
Chr4:41257653 [GRCh38]
Chr4:41259670 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.291C>T (p.His97=) |
single nucleotide variant |
not provided [RCV002919244] |
Chr4:41260763 [GRCh38]
Chr4:41262780 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.585+11G>A |
single nucleotide variant |
not provided [RCV002982738] |
Chr4:41264172 [GRCh38]
Chr4:41266189 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.275C>T (p.Thr92Ile) |
single nucleotide variant |
not provided [RCV002811538] |
Chr4:41260747 [GRCh38]
Chr4:41262764 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.616G>A (p.Glu206Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002813714] |
Chr4:41268017 [GRCh38]
Chr4:41270034 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.45+3G>A |
single nucleotide variant |
not provided [RCV002577870] |
Chr4:41257129 [GRCh38]
Chr4:41259146 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.66C>A (p.Val22=) |
single nucleotide variant |
not provided [RCV002600315] |
Chr4:41257629 [GRCh38]
Chr4:41259646 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.292G>A (p.Ala98Thr) |
single nucleotide variant |
not provided [RCV002717127] |
Chr4:41260764 [GRCh38]
Chr4:41262781 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.131C>T (p.Ala44Val) |
single nucleotide variant |
not provided [RCV002962668] |
Chr4:41257694 [GRCh38]
Chr4:41259711 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.106G>A (p.Glu36Lys) |
single nucleotide variant |
not provided [RCV003026537] |
Chr4:41257669 [GRCh38]
Chr4:41259686 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.655C>T (p.Leu219Phe) |
single nucleotide variant |
not provided [RCV002627435] |
Chr4:41268056 [GRCh38]
Chr4:41270073 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.282A>T (p.Gly94=) |
single nucleotide variant |
not provided [RCV003064045] |
Chr4:41260754 [GRCh38]
Chr4:41262771 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.459+3A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002988624]|not provided [RCV002988625] |
Chr4:41261926 [GRCh38]
Chr4:41263943 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.435C>G (p.Ala145=) |
single nucleotide variant |
not provided [RCV002583059] |
Chr4:41261899 [GRCh38]
Chr4:41263916 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.383A>G (p.Asp128Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002584952]|not provided [RCV002584953] |
Chr4:41261772 [GRCh38]
Chr4:41263789 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.366G>T (p.Glu122Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002813887] |
Chr4:41261755 [GRCh38]
Chr4:41263772 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.326-16C>G |
single nucleotide variant |
not provided [RCV002943622] |
Chr4:41261699 [GRCh38]
Chr4:41263716 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.459+20G>A |
single nucleotide variant |
not provided [RCV002635567] |
Chr4:41261943 [GRCh38]
Chr4:41263960 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.569A>G (p.Glu190Gly) |
single nucleotide variant |
not provided [RCV003139217] |
Chr4:41264145 [GRCh38]
Chr4:41266162 [GRCh37]
Chr4:4p13 |
uncertain significance |
| GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327613] |
Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12 |
pathogenic |
| NM_004181.5(UCHL1):c.260_261dup (p.Asn88fs) |
duplication |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003326192] |
Chr4:41260730..41260731 [GRCh38]
Chr4:41262747..41262748 [GRCh37]
Chr4:4p13 |
pathogenic |
| GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327611] |
Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11 |
pathogenic |
| GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327612] |
Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13 |
pathogenic |
| NM_004181.5(UCHL1):c.566C>T (p.Ser189Leu) |
single nucleotide variant |
not provided [RCV003334264] |
Chr4:41264142 [GRCh38]
Chr4:41266159 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.603C>G (p.Cys201Trp) |
single nucleotide variant |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003445435] |
Chr4:41268004 [GRCh38]
Chr4:41270021 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.341T>A (p.Leu114Gln) |
single nucleotide variant |
not specified [RCV003404854] |
Chr4:41261730 [GRCh38]
Chr4:41263747 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.644C>T (p.Ser215Phe) |
single nucleotide variant |
UCHL1-related disorder [RCV003400097] |
Chr4:41268045 [GRCh38]
Chr4:41270062 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.315A>G (p.Lys105=) |
single nucleotide variant |
not provided [RCV003439299] |
Chr4:41260787 [GRCh38]
Chr4:41262804 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.325+10G>A |
single nucleotide variant |
not provided [RCV003689738] |
Chr4:41260807 [GRCh38]
Chr4:41262824 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.459+19C>T |
single nucleotide variant |
not provided [RCV003881316] |
Chr4:41261942 [GRCh38]
Chr4:41263959 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.33+15C>T |
single nucleotide variant |
not provided [RCV003547091] |
Chr4:41257024 [GRCh38]
Chr4:41259041 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.546G>T (p.Pro182=) |
single nucleotide variant |
not provided [RCV003830623] |
Chr4:41264122 [GRCh38]
Chr4:41266139 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.70G>C (p.Gly24Arg) |
single nucleotide variant |
not provided [RCV003578389] |
Chr4:41257633 [GRCh38]
Chr4:41259650 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.55C>T (p.Arg19Trp) |
single nucleotide variant |
not provided [RCV003825605] |
Chr4:41257618 [GRCh38]
Chr4:41259635 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.495T>A (p.Phe165Leu) |
single nucleotide variant |
not provided [RCV003546173] |
Chr4:41263260 [GRCh38]
Chr4:41265277 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.294A>G (p.Ala98=) |
single nucleotide variant |
UCHL1-related disorder [RCV003929368]|not provided [RCV003849502] |
Chr4:41260766 [GRCh38]
Chr4:41262783 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.653C>A (p.Ala218Asp) |
single nucleotide variant |
not provided [RCV003668142] |
Chr4:41268054 [GRCh38]
Chr4:41270071 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.113C>G (p.Ser38Cys) |
single nucleotide variant |
not provided [RCV003834297] |
Chr4:41257676 [GRCh38]
Chr4:41259693 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.412-5dup |
duplication |
not provided [RCV003559643] |
Chr4:41261869..41261870 [GRCh38]
Chr4:41263886..41263887 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.14C>T (p.Pro5Leu) |
single nucleotide variant |
not provided [RCV003814701] |
Chr4:41256990 [GRCh38]
Chr4:41259007 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.46-13C>T |
single nucleotide variant |
not provided [RCV003816668] |
Chr4:41257596 [GRCh38]
Chr4:41259613 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.210G>A (p.Leu70=) |
single nucleotide variant |
not provided [RCV003550650] |
Chr4:41260682 [GRCh38]
Chr4:41262699 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.526+3_526+4del |
deletion |
not provided [RCV003677402] |
Chr4:41263293..41263294 [GRCh38]
Chr4:41265310..41265311 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.576C>G (p.Thr192=) |
single nucleotide variant |
not provided [RCV003678885] |
Chr4:41264152 [GRCh38]
Chr4:41266169 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.243C>T (p.Phe81=) |
single nucleotide variant |
not provided [RCV003859340] |
Chr4:41260715 [GRCh38]
Chr4:41262732 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.460-19A>G |
single nucleotide variant |
not provided [RCV003568170] |
Chr4:41263206 [GRCh38]
Chr4:41265223 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.519T>C (p.Tyr173=) |
single nucleotide variant |
not provided [RCV003731424] |
Chr4:41263284 [GRCh38]
Chr4:41265301 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.564T>C (p.Ser188=) |
single nucleotide variant |
not provided [RCV003681085] |
Chr4:41264140 [GRCh38]
Chr4:41266157 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.418C>G (p.Gln140Glu) |
single nucleotide variant |
not provided [RCV003684626] |
Chr4:41261882 [GRCh38]
Chr4:41263899 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.436G>A (p.Val146Met) |
single nucleotide variant |
not provided [RCV003869068] |
Chr4:41261900 [GRCh38]
Chr4:41263917 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.411+14C>T |
single nucleotide variant |
not provided [RCV003843053] |
Chr4:41261814 [GRCh38]
Chr4:41263831 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.255C>T (p.Thr85=) |
single nucleotide variant |
not provided [RCV003853646] |
Chr4:41260727 [GRCh38]
Chr4:41262744 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.526+12T>C |
single nucleotide variant |
not provided [RCV003866339] |
Chr4:41263303 [GRCh38]
Chr4:41265320 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.459+19C>A |
single nucleotide variant |
not provided [RCV003821448] |
Chr4:41261942 [GRCh38]
Chr4:41263959 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.347A>T (p.Gln116Leu) |
single nucleotide variant |
not provided [RCV003709798] |
Chr4:41261736 [GRCh38]
Chr4:41263753 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.501C>T (p.Asn167=) |
single nucleotide variant |
not provided [RCV004546267] |
Chr4:41263266 [GRCh38]
Chr4:41265283 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.46-4G>A |
single nucleotide variant |
UCHL1-related disorder [RCV003921603] |
Chr4:41257605 [GRCh38]
Chr4:41259622 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.366_367del (p.Lys123fs) |
microsatellite |
Spastic paraplegia 79A, autosomal dominant, with ataxia [RCV003992109] |
Chr4:41261752..41261753 [GRCh38]
Chr4:41263769..41263770 [GRCh37]
Chr4:4p13 |
pathogenic |
| NM_004181.5(UCHL1):c.585+4A>T |
single nucleotide variant |
UCHL1-related disorder [RCV003902263] |
Chr4:41264165 [GRCh38]
Chr4:41266182 [GRCh37]
Chr4:4p13 |
likely benign |
| NM_004181.5(UCHL1):c.605G>T (p.Arg202Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004677957] |
Chr4:41268006 [GRCh38]
Chr4:41270023 [GRCh37]
Chr4:4p13 |
uncertain significance |
| NM_004181.5(UCHL1):c.340C>G (p.Leu114Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004687939] |
Chr4:41261729 [GRCh38]
Chr4:41263746 [GRCh37]
Chr4:4p13 |
uncertain significance |
