NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000551912] |
Chr15:68211716 [GRCh38] Chr15:68504054 [GRCh37] Chr15:15q23 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000543712] |
Chr15:68208244 [GRCh38] Chr15:68500582 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.325C>T (p.Pro109Ser) |
single nucleotide variant |
not provided [RCV000520006] |
Chr15:68211836 [GRCh38] Chr15:68504174 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.7del (p.Ala3fs) |
deletion |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004295] |
Chr15:68229578 [GRCh38] Chr15:68521916 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) |
microsatellite |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004297]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV003332996]|Neuronal ceroid lipofuscinosis [RCV000465745]|See cases [RCV003156056]|not provided [RCV000187113] |
Chr15:68211765..68211766 [GRCh38] Chr15:68504103..68504104 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.542+5G>T |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004300]|Neuronal ceroid lipofuscinosis [RCV002512748] |
Chr15:68211258 [GRCh38] Chr15:68503596 [GRCh37] Chr15:15q23 |
pathogenic|uncertain significance |
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) |
duplication |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004301]|Neuronal ceroid lipofuscinosis [RCV001201445] |
Chr15:68214315..68214316 [GRCh38] Chr15:68506653..68506654 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000768186]|Ceroid lipofuscinosis, neuronal, 6A [RCV003224312]|Inborn genetic diseases [RCV002528265]|Neuronal ceroid lipofuscinosis [RCV000632709]|not provided [RCV000519270] |
Chr15:68211679 [GRCh38] Chr15:68504017 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.213C>T (p.Leu71=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000548759]|not specified [RCV000616836] |
Chr15:68214374 [GRCh38] Chr15:68506712 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000526214] |
Chr15:68211315 [GRCh38] Chr15:68503653 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.316dup (p.Arg106fs) |
duplication |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004296]|Neuronal ceroid lipofuscinosis [RCV002512747]|not provided [RCV001171902] |
Chr15:68211844..68211845 [GRCh38] Chr15:68504182..68504183 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004292]|Inborn genetic diseases [RCV002316185]|Neuronal ceroid lipofuscinosis [RCV001067723]|not provided [RCV000492979] |
Chr15:68214373 [GRCh38] Chr15:68506711 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) |
microsatellite |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004293] |
Chr15:68211289..68211291 [GRCh38] Chr15:68503627..68503629 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004294]|Neuronal ceroid lipofuscinosis [RCV001851638]|not provided [RCV002468959] |
Chr15:68211793 [GRCh38] Chr15:68504131 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NC_000015.9:g.68504037_68504039delGAT |
microsatellite |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004298]|Ceroid lipofuscinosis, neuronal, 6A [RCV002490306]|Neuronal ceroid lipofuscinosis [RCV000989354]|See cases [RCV002251873]|not provided [RCV001091349] |
Chr15:68211698..68211700 [GRCh38] Chr15:68504036..68504038 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000004299] |
Chr15:68209639 [GRCh38] Chr15:68501977 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787030]|not provided [RCV000058909] |
Chr15:68214387 [GRCh38] Chr15:68506725 [GRCh37] Chr15:15q23 |
pathogenic|not provided |
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000675061]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787031]|Neuronal ceroid lipofuscinosis [RCV001378313]|not provided [RCV000058911] |
Chr15:68211853 [GRCh38] Chr15:68504191 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000675107]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787032]|not provided [RCV000058907] |
Chr15:68218595 [GRCh38] Chr15:68510933 [GRCh37] Chr15:15q23 |
pathogenic|uncertain significance|not provided |
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787033]|not provided [RCV000058915] |
Chr15:68229568 [GRCh38] Chr15:68521906 [GRCh37] Chr15:15q23 |
pathogenic|not provided |
GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1 |
copy number loss |
See cases [RCV000053218] |
Chr15:67194581..69086285 [GRCh38] Chr15:67486919..69378625 [GRCh37] Chr15:65273973..67165679 [NCBI36] Chr15:15q22.33-23 |
pathogenic |
NM_017882.2(CLN6):c.297+83C>T |
single nucleotide variant |
Malignant melanoma [RCV000062913] |
Chr15:68214207 [GRCh38] Chr15:68506545 [GRCh37] Chr15:66293599 [NCBI36] Chr15:15q23 |
not provided |
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000668229]|Neuronal ceroid lipofuscinosis [RCV000702360]|not provided [RCV000058908] |
Chr15:68218584 [GRCh38] Chr15:68510922 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|not provided |
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys) |
single nucleotide variant |
not provided [RCV000058910] |
Chr15:68214356 [GRCh38] Chr15:68506694 [GRCh37] Chr15:15q23 |
not provided |
NM_017882.3(CLN6):c.446G>A (p.Arg149His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000664854]|Ceroid lipofuscinosis, neuronal, 6A [RCV002477206]|Neuronal ceroid lipofuscinosis [RCV000687100]|not provided [RCV000058912] |
Chr15:68211715 [GRCh38] Chr15:68504053 [GRCh37] Chr15:15q23 |
uncertain significance|not provided |
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile) |
single nucleotide variant |
not provided [RCV000058913] |
Chr15:68208364 [GRCh38] Chr15:68500702 [GRCh37] Chr15:15q23 |
not provided |
NM_017882.3(CLN6):c.890del (p.Pro297fs) |
deletion |
Ceroid lipofuscinosis, neuronal, 6A [RCV000669748]|Neuronal ceroid lipofuscinosis [RCV002514294]|not provided [RCV000058914] |
Chr15:68208186 [GRCh38] Chr15:68500524 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|not provided |
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000667213]|Neuronal ceroid lipofuscinosis [RCV003105790]|not provided [RCV000116760]|not specified [RCV000517586] |
Chr15:68209701 [GRCh38] Chr15:68502039 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.298-6C>T |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002498504]|Neuronal ceroid lipofuscinosis [RCV001083946]|not provided [RCV000675964]|not specified [RCV000116758] |
Chr15:68211869 [GRCh38] Chr15:68504207 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_017882.3(CLN6):c.486+8C>T |
single nucleotide variant |
Agenesis of the corpus callosum with peripheral neuropathy [RCV001258279]|Ceroid lipofuscinosis, neuronal, 6A [RCV000678439]|Inborn genetic diseases [RCV002336251]|Neuronal ceroid lipofuscinosis [RCV000228160]|not provided [RCV000675962]|not specified [RCV000116759] |
Chr15:68211667 [GRCh38] Chr15:68504005 [GRCh37] Chr15:15q23 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_017882.3(CLN6):c.84-18C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002055470]|not specified [RCV000124336] |
Chr15:68218668 [GRCh38] Chr15:68511006 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.282C>A (p.Pro94=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316355]|Neuronal ceroid lipofuscinosis [RCV000632748]|not specified [RCV000124337] |
Chr15:68214305 [GRCh38] Chr15:68506643 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.339G>A (p.Thr113=) |
single nucleotide variant |
Inborn genetic diseases [RCV002453447]|Neuronal ceroid lipofuscinosis [RCV000465480]|not specified [RCV000124339] |
Chr15:68211822 [GRCh38] Chr15:68504160 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.487-15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001116617]|not specified [RCV000124341] |
Chr15:68211333 [GRCh38] Chr15:68503671 [GRCh37] Chr15:15q23 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.585C>T (p.Gly195=) |
single nucleotide variant |
Inborn genetic diseases [RCV002354313]|Neuronal ceroid lipofuscinosis [RCV000529403]|not specified [RCV000124342] |
Chr15:68209717 [GRCh38] Chr15:68502055 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002312826]|Neuronal ceroid lipofuscinosis [RCV001079623]|not provided [RCV000675961]|not specified [RCV000124343] |
Chr15:68208307 [GRCh38] Chr15:68500645 [GRCh37] Chr15:15q23 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_017882.3(CLN6):c.822G>A (p.Ala274=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000533512]|not provided [RCV003390812]|not specified [RCV000124344] |
Chr15:68208254 [GRCh38] Chr15:68500592 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000677327]|Ceroid lipofuscinosis, neuronal, 6A [RCV003224161]|Inborn genetic diseases [RCV002312552]|Neuronal ceroid lipofuscinosis [RCV000989355]|not provided [RCV000675965]|not specified [RCV000173024] |
Chr15:68229551 [GRCh38] Chr15:68521889 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_017882.3(CLN6):c.180T>C (p.Phe60=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001453890]|not specified [RCV000603040] |
Chr15:68218554 [GRCh38] Chr15:68510892 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.514T>C (p.Tyr172His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001374417] |
Chr15:68211291 [GRCh38] Chr15:68503629 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000515438]|Inborn genetic diseases [RCV002313023]|Neuronal ceroid lipofuscinosis [RCV001085594]|not provided [RCV000766779]|not specified [RCV000187111] |
Chr15:68229532 [GRCh38] Chr15:68521870 [GRCh37] Chr15:15q23 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002316994]|Neuronal ceroid lipofuscinosis [RCV000464831]|not specified [RCV000187087] |
Chr15:68229521 [GRCh38] Chr15:68521859 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 15q23(chr15:67933759-68766493)x3 |
copy number gain |
See cases [RCV000139136] |
Chr15:67933759..68766493 [GRCh38] Chr15:68226097..69058832 [GRCh37] Chr15:66013151..66845886 [NCBI36] Chr15:15q23 |
likely benign |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 |
copy number gain |
See cases [RCV000142915] |
Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000458041]|not provided [RCV000724319] |
Chr15:68211845 [GRCh38] Chr15:68504183 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) |
single nucleotide variant |
CLN6-related condition [RCV003398902]|Ceroid lipofuscinosis, neuronal, 6A [RCV000515242]|Ceroid lipofuscinosis, neuronal, 6A [RCV002054140]|Inborn genetic diseases [RCV002314666]|Neuronal ceroid lipofuscinosis [RCV001080133]|not provided [RCV000724552]|not specified [RCV000187108] |
Chr15:68208153 [GRCh38] Chr15:68500491 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001258293]|Inborn genetic diseases [RCV002314630]|Neuronal ceroid lipofuscinosis [RCV000468908]|not provided [RCV001573238]|not specified [RCV000177296] |
Chr15:68214373 [GRCh38] Chr15:68506711 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.2(CLN6):c.297+15delC |
deletion |
not specified [RCV000187082] |
Chr15:68214275 [GRCh38] Chr15:68506613 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.297+19del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001522609]|not specified [RCV000187083] |
Chr15:68214271 [GRCh38] Chr15:68506609 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) |
microsatellite |
Ceroid lipofuscinosis, neuronal, 6A [RCV000195031]|Ceroid lipofuscinosis, neuronal, 6A [RCV001810435]|Neuronal ceroid lipofuscinosis [RCV000989353]|not provided [RCV000727479]|not specified [RCV000187114] |
Chr15:68208280..68208282 [GRCh38] Chr15:68500618..68500620 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.-5C>T |
single nucleotide variant |
not specified [RCV000187085] |
Chr15:68229589 [GRCh38] Chr15:68521927 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.63C>T (p.Gly21=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001413097]|not specified [RCV000187086] |
Chr15:68229522 [GRCh38] Chr15:68521860 [GRCh37] Chr15:15q23 |
benign|likely benign |
NM_017882.3(CLN6):c.66C>T (p.Ala22=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001119610]|not specified [RCV000187088] |
Chr15:68229519 [GRCh38] Chr15:68521857 [GRCh37] Chr15:15q23 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000691595]|not provided [RCV000187091] |
Chr15:68214302 [GRCh38] Chr15:68506640 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.297+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002513990]|not provided [RCV000187092] |
Chr15:68214289 [GRCh38] Chr15:68506627 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000666497]|Inborn genetic diseases [RCV002517850]|Neuronal ceroid lipofuscinosis [RCV001228807]|not provided [RCV000187093] |
Chr15:68211857 [GRCh38] Chr15:68504195 [GRCh37] Chr15:15q23 |
likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002517851]|not provided [RCV000187095] |
Chr15:68211839 [GRCh38] Chr15:68504177 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.2(CLN6):c.434A>G (p.His145Arg) |
single nucleotide variant |
not provided [RCV000187098] |
Chr15:68211727 [GRCh38] Chr15:68504065 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.486+2T>C |
single nucleotide variant |
not provided [RCV000187099] |
Chr15:68211673 [GRCh38] Chr15:68504011 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.665+1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001379342]|not provided [RCV000187100] |
Chr15:68209636 [GRCh38] Chr15:68501974 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001921225] |
Chr15:68209703 [GRCh38] Chr15:68502041 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000702414]|not provided [RCV000187102] |
Chr15:68208370 [GRCh38] Chr15:68500708 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro) |
single nucleotide variant |
not provided [RCV000187107] |
Chr15:68208267 [GRCh38] Chr15:68500605 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002513991]|not provided [RCV000187117] |
Chr15:68229581 [GRCh38] Chr15:68521919 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.99C>T (p.Ser33=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381625]|Neuronal ceroid lipofuscinosis [RCV000863261] |
Chr15:68218635 [GRCh38] Chr15:68510973 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632687]|not provided [RCV000727122] |
Chr15:68218634 [GRCh38] Chr15:68510972 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.116G>A (p.Arg39His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000456247]|not specified [RCV000187080] |
Chr15:68218618 [GRCh38] Chr15:68510956 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.270C>T (p.Asn90=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311262]|Neuronal ceroid lipofuscinosis [RCV001085180]|not provided [RCV000725138]|not specified [RCV000187081] |
Chr15:68214317 [GRCh38] Chr15:68506655 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002415804]|Neuronal ceroid lipofuscinosis [RCV002513989]|not provided [RCV001704977] |
Chr15:68208277 [GRCh38] Chr15:68500615 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002517849]|not provided [RCV000187089] |
Chr15:68218598 [GRCh38] Chr15:68510936 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002478654]|Neuronal ceroid lipofuscinosis [RCV001118064]|not provided [RCV000187090] |
Chr15:68214332 [GRCh38] Chr15:68506670 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.357C>G (p.Ile119Met) |
single nucleotide variant |
not provided [RCV000187096] |
Chr15:68211804 [GRCh38] Chr15:68504142 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002517852]|not provided [RCV000187097] |
Chr15:68211798 [GRCh38] Chr15:68504136 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000665630]|Ceroid lipofuscinosis, neuronal, 6A [RCV002478655]|Neuronal ceroid lipofuscinosis [RCV000803026]|not provided [RCV000187103]|not specified [RCV002282022] |
Chr15:68208348 [GRCh38] Chr15:68500686 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.749G>A (p.Arg250His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000544507]|not provided [RCV000187104] |
Chr15:68208327 [GRCh38] Chr15:68500665 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.755G>A (p.Arg252His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000671648]|Inborn genetic diseases [RCV002390489]|Neuronal ceroid lipofuscinosis [RCV001083020]|not provided [RCV000187105] |
Chr15:68208321 [GRCh38] Chr15:68500659 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001037728]|not provided [RCV000187106] |
Chr15:68208309 [GRCh38] Chr15:68500647 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000664477]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001731421]|Inborn genetic diseases [RCV002311263]|Neuronal ceroid lipofuscinosis [RCV001082320]|not provided [RCV000187109] |
Chr15:68229580 [GRCh38] Chr15:68521918 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000664742]|Inborn genetic diseases [RCV002317081]|Neuronal ceroid lipofuscinosis [RCV001085897]|not provided [RCV000187110]|not specified [RCV002228805] |
Chr15:68229536 [GRCh38] Chr15:68521874 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000813039]|not provided [RCV000187112] |
Chr15:68229521 [GRCh38] Chr15:68521859 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000803649]|not provided [RCV000187115]|not specified [RCV001804924] |
Chr15:68214309 [GRCh38] Chr15:68506647 [GRCh37] Chr15:15q23 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.886G>A (p.Val296Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001939244] |
Chr15:68208190 [GRCh38] Chr15:68500528 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.198+1G>A |
single nucleotide variant |
not provided [RCV000255264] |
Chr15:68218535 [GRCh38] Chr15:68510873 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000203548] |
Chr15:68208301 [GRCh38] Chr15:68500639 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) |
insertion |
Neuronal ceroid lipofuscinosis [RCV000232065] |
Chr15:68229523..68229524 [GRCh38] Chr15:68521861..68521862 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000625778]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002248826]|Neuronal ceroid lipofuscinosis [RCV001868157]|not provided [RCV001091348] |
Chr15:68211685 [GRCh38] Chr15:68504023 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000670264]|Neuronal ceroid lipofuscinosis [RCV000689116] |
Chr15:68218550 [GRCh38] Chr15:68510888 [GRCh37] Chr15:15q23 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 |
copy number gain |
See cases [RCV000240602] |
Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
NM_017882.3(CLN6):c.*1103G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000284985] |
Chr15:68207037 [GRCh38] Chr15:68499375 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.487-12T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000304343]|not specified [RCV000440941] |
Chr15:68211330 [GRCh38] Chr15:68503668 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.*470C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000269401] |
Chr15:68207670 [GRCh38] Chr15:68500008 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*646C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000275390] |
Chr15:68207494 [GRCh38] Chr15:68499832 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.259A>G (p.Met87Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000526973]|not provided [RCV001729529] |
Chr15:68214328 [GRCh38] Chr15:68506666 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*690A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000315476] |
Chr15:68207450 [GRCh38] Chr15:68499788 [GRCh37] Chr15:15q23 |
benign|likely benign |
NM_017882.3(CLN6):c.-108G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000387273] |
Chr15:68229692 [GRCh38] Chr15:68522030 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.42C>A (p.Gly14=) |
single nucleotide variant |
Inborn genetic diseases [RCV002328829]|Neuronal ceroid lipofuscinosis [RCV000863139]|not provided [RCV001653555] |
Chr15:68229543 [GRCh38] Chr15:68521881 [GRCh37] Chr15:15q23 |
benign|likely benign|uncertain significance |
NM_017882.3(CLN6):c.*1015T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000340027] |
Chr15:68207125 [GRCh38] Chr15:68499463 [GRCh37] Chr15:15q23 |
benign|likely benign |
NM_017882.3(CLN6):c.*175C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000281114] |
Chr15:68207965 [GRCh38] Chr15:68500303 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.298-15C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000321713]|not specified [RCV000428295] |
Chr15:68211878 [GRCh38] Chr15:68504216 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.*667G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000367710] |
Chr15:68207473 [GRCh38] Chr15:68499811 [GRCh37] Chr15:15q23 |
benign|uncertain significance |
NM_017882.3(CLN6):c.*934G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000392171] |
Chr15:68207206 [GRCh38] Chr15:68499544 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.*725C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000392200] |
Chr15:68207415 [GRCh38] Chr15:68499753 [GRCh37] Chr15:15q23 |
benign|uncertain significance |
NM_017882.3(CLN6):c.*131G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000392696] |
Chr15:68208009 [GRCh38] Chr15:68500347 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*141GT[13] |
microsatellite |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000279536]|not provided [RCV001709592] |
Chr15:68207979..68207980 [GRCh38] Chr15:68500317..68500318 [GRCh37] Chr15:15q23 |
benign|likely benign |
NM_017882.3(CLN6):c.*141GT[8] |
microsatellite |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000350982]|not provided [RCV001597079] |
Chr15:68207980..68207983 [GRCh38] Chr15:68500318..68500321 [GRCh37] Chr15:15q23 |
benign|uncertain significance |
NM_017882.3(CLN6):c.*141GT[11] |
microsatellite |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000338546]|not provided [RCV001653554] |
Chr15:68207979..68207980 [GRCh38] Chr15:68500317..68500318 [GRCh37] Chr15:15q23 |
benign|conflicting interpretations of pathogenicity |
NM_017882.3(CLN6):c.62G>T (p.Gly21Val) |
single nucleotide variant |
not provided [RCV000354306] |
Chr15:68229523 [GRCh38] Chr15:68521861 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*140_*143del |
deletion |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000311359] |
Chr15:68207997..68208000 [GRCh38] Chr15:68500335..68500338 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*817C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000355138] |
Chr15:68207323 [GRCh38] Chr15:68499661 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.*141GT[12] |
microsatellite |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000390333]|not provided [RCV001582955] |
Chr15:68207979..68207980 [GRCh38] Chr15:68500317..68500318 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.213C>G (p.Leu71=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000867995]|not specified [RCV000424102] |
Chr15:68214374 [GRCh38] Chr15:68506712 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.*69G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000362653] |
Chr15:68208071 [GRCh38] Chr15:68500409 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.58C>T (p.Leu20=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001452369]|not provided [RCV000370051] |
Chr15:68229527 [GRCh38] Chr15:68521865 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.896C>A (p.Pro299His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001572615] |
Chr15:68208180 [GRCh38] Chr15:68500518 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.*141GT[9] |
microsatellite |
not provided [RCV001565605] |
Chr15:68207980..68207981 [GRCh38] Chr15:68500318..68500319 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) |
microsatellite |
Ceroid lipofuscinosis, neuronal, 6A [RCV000674466]|Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000361420] |
Chr15:68211804..68211806 [GRCh38] Chr15:68504142..68504144 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.2(CLN6):c.*1157A>G |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000328369] |
Chr15:68206983 [GRCh38] Chr15:68499321 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.*526A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000366535] |
Chr15:68207614 [GRCh38] Chr15:68499952 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.-22C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000348828] |
Chr15:68229606 [GRCh38] Chr15:68521944 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*132C>T |
single nucleotide variant |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000368410] |
Chr15:68208008 [GRCh38] Chr15:68500346 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*224T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000321098] |
Chr15:68207916 [GRCh38] Chr15:68500254 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC |
microsatellite |
Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000366728]|not provided [RCV001662361] |
Chr15:68229753..68229762 [GRCh38] Chr15:68522091..68522100 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.*246G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000286892] |
Chr15:68207894 [GRCh38] Chr15:68500232 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*887G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000297997] |
Chr15:68207253 [GRCh38] Chr15:68499591 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*88G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000309753] |
Chr15:68208052 [GRCh38] Chr15:68500390 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.487-20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003105982]|not specified [RCV000604861] |
Chr15:68211338 [GRCh38] Chr15:68503676 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.*300C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000326841] |
Chr15:68207840 [GRCh38] Chr15:68500178 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*179G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000378029] |
Chr15:68207961 [GRCh38] Chr15:68500299 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*532T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000328252] |
Chr15:68207608 [GRCh38] Chr15:68499946 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*264T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000379154] |
Chr15:68207876 [GRCh38] Chr15:68500214 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.486+8C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001433372]|not specified [RCV000607118] |
Chr15:68211667 [GRCh38] Chr15:68504005 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.36G>A (p.Ala12=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001478203]|not provided [RCV000592887] |
Chr15:68229549 [GRCh38] Chr15:68521887 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002523939]|Neuronal ceroid lipofuscinosis [RCV000801841]|not provided [RCV003144248]|not specified [RCV000414428] |
Chr15:68218615 [GRCh38] Chr15:68510953 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000665418]|Neuronal ceroid lipofuscinosis [RCV000534403]|not provided [RCV000675966]|not specified [RCV003330752] |
Chr15:68229572 [GRCh38] Chr15:68521910 [GRCh37] Chr15:15q23 |
pathogenic|uncertain significance |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 |
copy number gain |
not provided [RCV000415836] |
Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
NM_017882.3(CLN6):c.721A>G (p.Met241Val) |
single nucleotide variant |
not provided [RCV000731367] |
Chr15:68208355 [GRCh38] Chr15:68500693 [GRCh37] Chr15:15q23 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000675067]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002248651]|Neuronal ceroid lipofuscinosis [RCV001865306]|not provided [RCV000416280] |
Chr15:68208178 [GRCh38] Chr15:68500516 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.571A>G (p.Met191Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000555659] |
Chr15:68209731 [GRCh38] Chr15:68502069 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.798C>T (p.Phe266=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001082640]|not provided [RCV000730801] |
Chr15:68208278 [GRCh38] Chr15:68500616 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.407G>A (p.Arg136His) |
single nucleotide variant |
Abnormal brain morphology [RCV000454168]|Ceroid lipofuscinosis, neuronal, 6A [RCV003224283]|Neuronal ceroid lipofuscinosis [RCV001379796]|not specified [RCV000499595] |
Chr15:68211754 [GRCh38] Chr15:68504092 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
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 |
NM_017882.3(CLN6):c.135C>T (p.Leu45=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000528647]|not specified [RCV000441844] |
Chr15:68218599 [GRCh38] Chr15:68510937 [GRCh37] Chr15:15q23 |
benign|likely benign |
NM_017882.3(CLN6):c.-29G>T |
single nucleotide variant |
not specified [RCV000424668] |
Chr15:68229613 [GRCh38] Chr15:68521951 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.167G>A (p.Trp56Ter) |
single nucleotide variant |
not provided [RCV000420815] |
Chr15:68218567 [GRCh38] Chr15:68510905 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.810C>G (p.Leu270=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001448825]|not specified [RCV000421676] |
Chr15:68208266 [GRCh38] Chr15:68500604 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.487-13G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002062324]|not specified [RCV000435892] |
Chr15:68211331 [GRCh38] Chr15:68503669 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.682G>A (p.Gly228Ser) |
single nucleotide variant |
not provided [RCV000427343] |
Chr15:68208394 [GRCh38] Chr15:68500732 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.873G>A (p.Pro291=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001477671]|not specified [RCV000443359] |
Chr15:68208203 [GRCh38] Chr15:68500541 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.477G>A (p.Pro159=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000863316]|not provided [RCV003326425]|not specified [RCV000443471] |
Chr15:68211684 [GRCh38] Chr15:68504022 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.-37C>T |
single nucleotide variant |
not specified [RCV000429797] |
Chr15:68229621 [GRCh38] Chr15:68521959 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001052469]|not provided [RCV000433075] |
Chr15:68229542 [GRCh38] Chr15:68521880 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.-27C>A |
single nucleotide variant |
not specified [RCV000426381] |
Chr15:68229611 [GRCh38] Chr15:68521949 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.89G>C (p.Gly30Ala) |
single nucleotide variant |
not specified [RCV000429959] |
Chr15:68218645 [GRCh38] Chr15:68510983 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.741C>T (p.His247=) |
single nucleotide variant |
Inborn genetic diseases [RCV002379318]|Neuronal ceroid lipofuscinosis [RCV000867761]|not provided [RCV001703643] |
Chr15:68208335 [GRCh38] Chr15:68500673 [GRCh37] Chr15:15q23 |
likely benign |
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 |
NM_017882.3(CLN6):c.840G>A (p.Leu280=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313223]|Neuronal ceroid lipofuscinosis [RCV001085758]|not provided [RCV000675960] |
Chr15:68208236 [GRCh38] Chr15:68500574 [GRCh37] Chr15:15q23 |
benign|likely benign |
NM_017882.3(CLN6):c.329G>A (p.Arg110His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000470949] |
Chr15:68211832 [GRCh38] Chr15:68504170 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.912C>T (p.Thr304=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000474767] |
Chr15:68208164 [GRCh38] Chr15:68500502 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.396T>C (p.Ser132=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000474492] |
Chr15:68211765 [GRCh38] Chr15:68504103 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+14dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV002056734]|not specified [RCV000480074] |
Chr15:68229484..68229485 [GRCh38] Chr15:68521822..68521823 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000809032]|not provided [RCV000480075] |
Chr15:68208255 [GRCh38] Chr15:68500593 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002376874]|Neuronal ceroid lipofuscinosis [RCV000529770]|not provided [RCV000480128] |
Chr15:68208358 [GRCh38] Chr15:68500696 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly) |
single nucleotide variant |
not provided [RCV000484478] |
Chr15:68208174 [GRCh38] Chr15:68500512 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.797T>C (p.Phe266Ser) |
single nucleotide variant |
not provided [RCV000485015] |
Chr15:68208279 [GRCh38] Chr15:68500617 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.640G>T (p.Val214Leu) |
single nucleotide variant |
not provided [RCV000485231] |
Chr15:68209662 [GRCh38] Chr15:68502000 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.84-1G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002525960]|not provided [RCV000484435] |
Chr15:68218651 [GRCh38] Chr15:68510989 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.748C>G (p.Arg250Gly) |
single nucleotide variant |
not provided [RCV000477996] |
Chr15:68208328 [GRCh38] Chr15:68500666 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001851229]|not provided [RCV000482656] |
Chr15:68209721 [GRCh38] Chr15:68502059 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001304989]|not provided [RCV000482919] |
Chr15:68229574 [GRCh38] Chr15:68521912 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002526577]|not provided [RCV000478612] |
Chr15:68209677 [GRCh38] Chr15:68502015 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002525914]|not provided [RCV000478824] |
Chr15:68209739 [GRCh38] Chr15:68502077 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.564C>A (p.Ile188=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000458522] |
Chr15:68209738 [GRCh38] Chr15:68502076 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001203261]|not provided [RCV000498748] |
Chr15:68208354 [GRCh38] Chr15:68500692 [GRCh37] Chr15:15q23 |
likely pathogenic |
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(chr15:22770422-102429112) |
copy number gain |
See cases [RCV000512019] |
Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002527085]|not provided [RCV000494015] |
Chr15:68211860 [GRCh38] Chr15:68504198 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000763980]|Neuronal ceroid lipofuscinosis [RCV000703145]|not provided [RCV001566395] |
Chr15:68229544 [GRCh38] Chr15:68521882 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.195C>T (p.Ala65=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632758]|not provided [RCV001712727] |
Chr15:68218539 [GRCh38] Chr15:68510877 [GRCh37] Chr15:15q23 |
benign|likely benign |
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002431546]|Neuronal ceroid lipofuscinosis [RCV000541719]|not provided [RCV000711262] |
Chr15:68214316 [GRCh38] Chr15:68506654 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.543-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632731] |
Chr15:68209768 [GRCh38] Chr15:68502106 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.522G>A (p.Glu174=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001472824] |
Chr15:68211283 [GRCh38] Chr15:68503621 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632688] |
Chr15:68208343 [GRCh38] Chr15:68500681 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.303C>T (p.Ile101=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000632761] |
Chr15:68211858 [GRCh38] Chr15:68504196 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.774C>T (p.Asn258=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001411832]|not specified [RCV000602188] |
Chr15:68208302 [GRCh38] Chr15:68500640 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000678437]|Neuronal ceroid lipofuscinosis [RCV001051368]|not provided [RCV000595470] |
Chr15:68211854 [GRCh38] Chr15:68504192 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.666-5T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000555997] |
Chr15:68208415 [GRCh38] Chr15:68500753 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000672314]|Neuronal ceroid lipofuscinosis [RCV002532122] |
Chr15:68208239 [GRCh38] Chr15:68500577 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.876T>C (p.Gly292=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001418405]|not provided [RCV001718967] |
Chr15:68208200 [GRCh38] Chr15:68500538 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002497074]|Neuronal ceroid lipofuscinosis [RCV000559749] |
Chr15:68208322 [GRCh38] Chr15:68500660 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.-34G>A |
single nucleotide variant |
not specified [RCV000610085] |
Chr15:68229618 [GRCh38] Chr15:68521956 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000622342]|Neuronal ceroid lipofuscinosis [RCV000696148] |
Chr15:68211862 [GRCh38] Chr15:68504200 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.240T>C (p.Ser80=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000863988]|not specified [RCV000610335] |
Chr15:68214347 [GRCh38] Chr15:68506685 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.666-20C>T |
single nucleotide variant |
not specified [RCV000613547] |
Chr15:68208430 [GRCh38] Chr15:68500768 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.918C>T (p.His306=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001412277]|not specified [RCV000613562] |
Chr15:68208158 [GRCh38] Chr15:68500496 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.213C>A (p.Leu71=) |
single nucleotide variant |
not specified [RCV000610917] |
Chr15:68214374 [GRCh38] Chr15:68506712 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.354C>T (p.Ile118=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001402552]|not specified [RCV000610967] |
Chr15:68211807 [GRCh38] Chr15:68504145 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.542+8A>G |
single nucleotide variant |
not specified [RCV000608533] |
Chr15:68211255 [GRCh38] Chr15:68503593 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.90C>T (p.Gly30=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002062831]|not specified [RCV000614069] |
Chr15:68218644 [GRCh38] Chr15:68510982 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.-23G>A |
single nucleotide variant |
not specified [RCV000611575] |
Chr15:68229607 [GRCh38] Chr15:68521945 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002531617]|not specified [RCV000609186] |
Chr15:68208206 [GRCh38] Chr15:68500544 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000625854]|Neuronal ceroid lipofuscinosis [RCV000799881] |
Chr15:68208397 [GRCh38] Chr15:68500735 [GRCh37] Chr15:15q23 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.297+113G>C |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000625881] |
Chr15:68214177 [GRCh38] Chr15:68506515 [GRCh37] Chr15:15q23 |
likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.185G>A (p.Arg62His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000626225]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV003228965]|Neuronal ceroid lipofuscinosis [RCV002529782] |
Chr15:68218549 [GRCh38] Chr15:68510887 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.1A>G (p.Met1Val) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000672905] |
Chr15:68229584 [GRCh38] Chr15:68521922 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000664548] |
Chr15:68211718 [GRCh38] Chr15:68504056 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) |
microsatellite |
Ceroid lipofuscinosis, neuronal, 6A [RCV000672641] |
Chr15:68208288..68208289 [GRCh38] Chr15:68500626..68500627 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001247994]|not provided [RCV000675963] |
Chr15:68211850 [GRCh38] Chr15:68504188 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.542+1G>T |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000669509] |
Chr15:68211262 [GRCh38] Chr15:68503600 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000671838] |
Chr15:68208301 [GRCh38] Chr15:68500639 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000668296]|Neuronal ceroid lipofuscinosis [RCV001349639]|not specified [RCV002509498] |
Chr15:68211788 [GRCh38] Chr15:68504126 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000691919] |
Chr15:68211790 [GRCh38] Chr15:68504128 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000665609] |
Chr15:68209637 [GRCh38] Chr15:68501975 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000665887]|Ceroid lipofuscinosis, neuronal, 6A [RCV002485526]|Neuronal ceroid lipofuscinosis [RCV001855448] |
Chr15:68208180 [GRCh38] Chr15:68500518 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000672883] |
Chr15:68208167 [GRCh38] Chr15:68500505 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000667257] |
Chr15:68211299 [GRCh38] Chr15:68503637 [GRCh37] Chr15:15q23 |
uncertain significance |
Single allele |
duplication |
not provided [RCV000677926] |
Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) |
deletion |
Ceroid lipofuscinosis, neuronal, 6A [RCV000673735] |
Chr15:68208306..68208310 [GRCh38] Chr15:68500644..68500648 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.486+1G>A |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000671252]|Ceroid lipofuscinosis, neuronal, 6A [RCV002499177]|Inborn genetic diseases [RCV002317912]|Neuronal ceroid lipofuscinosis [RCV001868252] |
Chr15:68211674 [GRCh38] Chr15:68504012 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000671374] |
Chr15:68208374 [GRCh38] Chr15:68500712 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000671514]|Neuronal ceroid lipofuscinosis [RCV001042017] |
Chr15:68211296 [GRCh38] Chr15:68503634 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.83+2T>G |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000666571] |
Chr15:68229500 [GRCh38] Chr15:68521838 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000666578]|Neuronal ceroid lipofuscinosis [RCV002530689] |
Chr15:68209759 [GRCh38] Chr15:68502097 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) |
duplication |
Ceroid lipofuscinosis, neuronal, 6A [RCV000673900]|Neuronal ceroid lipofuscinosis [RCV001861826] |
Chr15:68211306..68211307 [GRCh38] Chr15:68503644..68503645 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000692075]|not provided [RCV001756185] |
Chr15:68218619 [GRCh38] Chr15:68510957 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.198+104T>C |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000678438]|not provided [RCV001530857] |
Chr15:68218432 [GRCh38] Chr15:68510770 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.552dup (p.Phe185fs) |
duplication |
Ceroid lipofuscinosis, neuronal, 6A [RCV000678440] |
Chr15:68209749..68209750 [GRCh38] Chr15:68502087..68502088 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000678441]|Neuronal ceroid lipofuscinosis [RCV001861858] |
Chr15:68209640 [GRCh38] Chr15:68501978 [GRCh37] Chr15:15q23 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000678442] |
Chr15:68214337 [GRCh38] Chr15:68506675 [GRCh37] Chr15:15q23 |
pathogenic |
GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1 |
copy number loss |
not provided [RCV000683701] |
Chr15:66861081..69213575 [GRCh37] Chr15:15q22.31-23 |
pathogenic |
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000706190] |
Chr15:68208147 [GRCh38] Chr15:68500485 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000707397] |
Chr15:68229524 [GRCh38] Chr15:68521862 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000697232] |
Chr15:68209668 [GRCh38] Chr15:68502006 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000697270] |
Chr15:68209653 [GRCh38] Chr15:68501991 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.297+4C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002317971]|Neuronal ceroid lipofuscinosis [RCV001066965] |
Chr15:68214286 [GRCh38] Chr15:68506624 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV003388596]|Inborn genetic diseases [RCV002317588] |
Chr15:68211736 [GRCh38] Chr15:68504074 [GRCh37] Chr15:15q23 |
likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001004876]|Neuronal ceroid lipofuscinosis [RCV002549262] |
Chr15:68209640 [GRCh38] Chr15:68501978 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.297+158C>T |
single nucleotide variant |
not provided [RCV001567427] |
Chr15:68214132 [GRCh38] Chr15:68506470 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.*38A>G |
single nucleotide variant |
not provided [RCV001539436] |
Chr15:68208102 [GRCh38] Chr15:68500440 [GRCh37] Chr15:15q23 |
benign |
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 |
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 |
NM_017882.3(CLN6):c.83+225del |
deletion |
not provided [RCV001584753] |
Chr15:68229277 [GRCh38] Chr15:68521615 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000872271] |
Chr15:68208191 [GRCh38] Chr15:68500529 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001543159]|Inborn genetic diseases [RCV002568264]|Neuronal ceroid lipofuscinosis [RCV002032545] |
Chr15:68214291 [GRCh38] Chr15:68506629 [GRCh37] Chr15:15q23 |
pathogenic|uncertain significance |
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV000761549]|Neuronal ceroid lipofuscinosis [RCV003479215] |
Chr15:68229502 [GRCh38] Chr15:68521840 [GRCh37] Chr15:15q23 |
pathogenic |
NC_000015.10:g.68229762A>G |
single nucleotide variant |
not provided [RCV001583446] |
Chr15:68229762 [GRCh38] Chr15:68522100 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.665+1G>T |
single nucleotide variant |
Spastic ataxia [RCV001647223] |
Chr15:68209636 [GRCh38] Chr15:68501974 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.487-140G>A |
single nucleotide variant |
not provided [RCV001577604] |
Chr15:68211458 [GRCh38] Chr15:68503796 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.138C>T (p.Asp46=) |
single nucleotide variant |
not provided [RCV000944986] |
Chr15:68218596 [GRCh38] Chr15:68510934 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.279G>A (p.Thr93=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000868291] |
Chr15:68214308 [GRCh38] Chr15:68506646 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.199-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002415998]|Neuronal ceroid lipofuscinosis [RCV001084695]|not provided [RCV000864156] |
Chr15:68214393 [GRCh38] Chr15:68506731 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.564C>T (p.Ile188=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001463484] |
Chr15:68209738 [GRCh38] Chr15:68502076 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.204A>G (p.Val68=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000981987] |
Chr15:68214383 [GRCh38] Chr15:68506721 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.84-9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002539020] |
Chr15:68218659 [GRCh38] Chr15:68510997 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.858C>T (p.Leu286=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000981073] |
Chr15:68208218 [GRCh38] Chr15:68500556 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.831C>T (p.Val277=) |
single nucleotide variant |
Inborn genetic diseases [RCV002427156]|Neuronal ceroid lipofuscinosis [RCV000868299]|not provided [RCV001655622] |
Chr15:68208245 [GRCh38] Chr15:68500583 [GRCh37] Chr15:15q23 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001036617] |
Chr15:68209709 [GRCh38] Chr15:68502047 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001042074] |
Chr15:68211263 [GRCh38] Chr15:68503601 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.365T>C (p.Met122Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001064623] |
Chr15:68211796 [GRCh38] Chr15:68504134 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.553T>G (p.Phe185Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001065760] |
Chr15:68209749 [GRCh38] Chr15:68502087 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.653G>T (p.Gly218Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001072046] |
Chr15:68209649 [GRCh38] Chr15:68501987 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.759C>G (p.Leu253=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001452538] |
Chr15:68208317 [GRCh38] Chr15:68500655 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.93T>C (p.Ser31=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000867409] |
Chr15:68218641 [GRCh38] Chr15:68510979 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.487-8T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000863138]|not provided [RCV001692301] |
Chr15:68211326 [GRCh38] Chr15:68503664 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.717C>T (p.Phe239=) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002501263]|Neuronal ceroid lipofuscinosis [RCV000866913] |
Chr15:68208359 [GRCh38] Chr15:68500697 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.801A>G (p.Ala267=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000936274] |
Chr15:68208275 [GRCh38] Chr15:68500613 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000815648] |
Chr15:68209743 [GRCh38] Chr15:68502081 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002249523]|Neuronal ceroid lipofuscinosis [RCV000813418]|not provided [RCV003145176] |
Chr15:68211755 [GRCh38] Chr15:68504093 [GRCh37] Chr15:15q23 |
pathogenic|uncertain significance |
NC_000015.10:g.(?_68229492)_(68229594_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000823950] |
Chr15:68229492..68229594 [GRCh38] Chr15:68521830..68521932 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.83+35C>G |
single nucleotide variant |
not provided [RCV000832482] |
Chr15:68229467 [GRCh38] Chr15:68521805 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.486+51C>T |
single nucleotide variant |
not provided [RCV000832483] |
Chr15:68211624 [GRCh38] Chr15:68503962 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000821882]|not provided [RCV001580550] |
Chr15:68208226 [GRCh38] Chr15:68500564 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.198+181A>G |
single nucleotide variant |
not provided [RCV000836983] |
Chr15:68218355 [GRCh38] Chr15:68510693 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.665+265G>A |
single nucleotide variant |
not provided [RCV000826873] |
Chr15:68209372 [GRCh38] Chr15:68501710 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000822586]|not provided [RCV001759618] |
Chr15:68209719 [GRCh38] Chr15:68502057 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000815028] |
Chr15:68214363 [GRCh38] Chr15:68506701 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.684C>A (p.Gly228=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001455752]|not provided [RCV000827421] |
Chr15:68208392 [GRCh38] Chr15:68500730 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.*345C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001117961] |
Chr15:68207795 [GRCh38] Chr15:68500133 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.199-252A>C |
single nucleotide variant |
not provided [RCV000826872] |
Chr15:68214640 [GRCh38] Chr15:68506978 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.*75G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001119502] |
Chr15:68208065 [GRCh38] Chr15:68500403 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000793859] |
Chr15:68211830 [GRCh38] Chr15:68504168 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.542+212C>T |
single nucleotide variant |
not provided [RCV000836879] |
Chr15:68211051 [GRCh38] Chr15:68503389 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.298-168C>T |
single nucleotide variant |
not provided [RCV000837203] |
Chr15:68212031 [GRCh38] Chr15:68504369 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.763C>T (p.Leu255=) |
single nucleotide variant |
Inborn genetic diseases [RCV002390878]|Neuronal ceroid lipofuscinosis [RCV001501377]|not provided [RCV000895302] |
Chr15:68208313 [GRCh38] Chr15:68500651 [GRCh37] Chr15:15q23 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000819094] |
Chr15:68211311 [GRCh38] Chr15:68503649 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.507C>T (p.Leu169=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001481924] |
Chr15:68211298 [GRCh38] Chr15:68503636 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.924C>T (p.Ser308=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000920297] |
Chr15:68208152 [GRCh38] Chr15:68500490 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.678C>T (p.Thr226=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001083700]|not provided [RCV000842201] |
Chr15:68208398 [GRCh38] Chr15:68500736 [GRCh37] Chr15:15q23 |
likely benign |
NC_000015.10:g.(?_68229482)_(68229604_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV000807236] |
Chr15:68229482..68229604 [GRCh38] Chr15:68521820..68521942 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.199-70G>A |
single nucleotide variant |
not provided [RCV000832775] |
Chr15:68214458 [GRCh38] Chr15:68506796 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.84-81C>T |
single nucleotide variant |
not provided [RCV000832783] |
Chr15:68218731 [GRCh38] Chr15:68511069 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.487-39C>T |
single nucleotide variant |
not provided [RCV000832784] |
Chr15:68211357 [GRCh38] Chr15:68503695 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.298-248G>A |
single nucleotide variant |
not provided [RCV000839630] |
Chr15:68212111 [GRCh38] Chr15:68504449 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.298-196A>G |
single nucleotide variant |
not provided [RCV000839631] |
Chr15:68212059 [GRCh38] Chr15:68504397 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.*655C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001116510] |
Chr15:68207485 [GRCh38] Chr15:68499823 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001473774] |
Chr15:68229495 [GRCh38] Chr15:68521833 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.730C>G (p.Leu244Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001209232] |
Chr15:68208346 [GRCh38] Chr15:68500684 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001243639]|not provided [RCV001507885] |
Chr15:68211833 [GRCh38] Chr15:68504171 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001212497] |
Chr15:68229571 [GRCh38] Chr15:68521909 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.837del (p.Trp279fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV000989351] |
Chr15:68208239 [GRCh38] Chr15:68500577 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001226452] |
Chr15:68229553 [GRCh38] Chr15:68521891 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002366022]|Neuronal ceroid lipofuscinosis [RCV001227754] |
Chr15:68208372 [GRCh38] Chr15:68500710 [GRCh37] Chr15:15q23 |
uncertain significance |
GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1 |
copy number loss |
not provided [RCV000846047] |
Chr15:67369118..70481307 [GRCh37] Chr15:15q22.33-23 |
pathogenic |
NM_017882.3(CLN6):c.487-3C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121505] |
Chr15:68211321 [GRCh38] Chr15:68503659 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*284C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001117963] |
Chr15:68207856 [GRCh38] Chr15:68500194 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001118065] |
Chr15:68218610 [GRCh38] Chr15:68510948 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*446C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001116512] |
Chr15:68207694 [GRCh38] Chr15:68500032 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*1109G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001119416] |
Chr15:68207031 [GRCh38] Chr15:68499369 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001241808] |
Chr15:68214382 [GRCh38] Chr15:68506720 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.298-346G>T |
single nucleotide variant |
not provided [RCV003126359] |
Chr15:68212209 [GRCh38] Chr15:68504547 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.542+165C>T |
single nucleotide variant |
not provided [RCV001546742] |
Chr15:68211098 [GRCh38] Chr15:68503436 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.*141GT[14] |
microsatellite |
not provided [RCV001555321] |
Chr15:68207979..68207980 [GRCh38] Chr15:68500317..68500318 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.*30T>G |
single nucleotide variant |
not provided [RCV001583942] |
Chr15:68208110 [GRCh38] Chr15:68500448 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+188_83+191del |
microsatellite |
not provided [RCV001594195] |
Chr15:68229311..68229314 [GRCh38] Chr15:68521649..68521652 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002388586]|Neuronal ceroid lipofuscinosis [RCV002032586]|not provided [RCV001551476] |
Chr15:68218631 [GRCh38] Chr15:68510969 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.567C>T (p.Leu189=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000930242] |
Chr15:68209735 [GRCh38] Chr15:68502073 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.636C>T (p.Leu212=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001440313] |
Chr15:68209666 [GRCh38] Chr15:68502004 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.489C>T (p.Ile163=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000873003] |
Chr15:68211316 [GRCh38] Chr15:68503654 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.555C>T (p.Phe185=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001437303] |
Chr15:68209747 [GRCh38] Chr15:68502085 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.441T>G (p.Ser147=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001430079] |
Chr15:68211720 [GRCh38] Chr15:68504058 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.552C>T (p.Pro184=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001482836] |
Chr15:68209750 [GRCh38] Chr15:68502088 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.84-8C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000937320] |
Chr15:68218658 [GRCh38] Chr15:68510996 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.666-3C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121503] |
Chr15:68208413 [GRCh38] Chr15:68500751 [GRCh37] Chr15:15q23 |
uncertain significance |
NC_000015.10:g.(?_68208120)_(68229604_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001033599] |
Chr15:68500458..68521942 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.-101A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121604] |
Chr15:68229685 [GRCh38] Chr15:68522023 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001238918]|not provided [RCV001788430] |
Chr15:68214373 [GRCh38] Chr15:68506711 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.340T>C (p.Tyr114His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001041194] |
Chr15:68211821 [GRCh38] Chr15:68504159 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.199-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001043252] |
Chr15:68214390 [GRCh38] Chr15:68506728 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.66del (p.Ser23fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001241844] |
Chr15:68229519 [GRCh38] Chr15:68521857 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001201747] |
Chr15:68218573 [GRCh38] Chr15:68510911 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.919G>T (p.Val307Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001052906] |
Chr15:68208157 [GRCh38] Chr15:68500495 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002348678]|Neuronal ceroid lipofuscinosis [RCV001207661] |
Chr15:68209755 [GRCh38] Chr15:68502093 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.13C>A (p.Arg5=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV000913085] |
Chr15:68229572 [GRCh38] Chr15:68521910 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.829_832del (p.Val277fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV000989352] |
Chr15:68208244..68208247 [GRCh38] Chr15:68500582..68500585 [GRCh37] Chr15:15q23 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_017882.3(CLN6):c.446G>C (p.Arg149Pro) |
single nucleotide variant |
See cases [RCV002253169] |
Chr15:68211715 [GRCh38] Chr15:68504053 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup) |
duplication |
Ceroid lipofuscinosis, neuronal, 6A [RCV001543158] |
Chr15:68214366..68214367 [GRCh38] Chr15:68506704..68506705 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.542+33G>A |
single nucleotide variant |
not provided [RCV001596661] |
Chr15:68211230 [GRCh38] Chr15:68503568 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+188T>C |
single nucleotide variant |
not provided [RCV001643375] |
Chr15:68229314 [GRCh38] Chr15:68521652 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.666-45C>T |
single nucleotide variant |
not provided [RCV001658803] |
Chr15:68208455 [GRCh38] Chr15:68500793 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001090115] |
Chr15:68209643 [GRCh38] Chr15:68501981 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001037601] |
Chr15:68218615 [GRCh38] Chr15:68510953 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001049806] |
Chr15:68218619 [GRCh38] Chr15:68510957 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.-38C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121602]|not provided [RCV001638041] |
Chr15:68229622 [GRCh38] Chr15:68521960 [GRCh37] Chr15:15q23 |
benign|uncertain significance |
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001175262] |
Chr15:68209715 [GRCh38] Chr15:68502053 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.83+218G>T |
single nucleotide variant |
not provided [RCV001588344] |
Chr15:68229284 [GRCh38] Chr15:68521622 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.516T>C (p.Tyr172=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001481030]|not provided [RCV001171901] |
Chr15:68211289 [GRCh38] Chr15:68503627 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001044353] |
Chr15:68211815 [GRCh38] Chr15:68504153 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001116618] |
Chr15:68211692 [GRCh38] Chr15:68504030 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*393G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001117960]|not provided [RCV001786436] |
Chr15:68207747 [GRCh38] Chr15:68500085 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001375037]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002246224]|Inborn genetic diseases [RCV002563820]|Neuronal ceroid lipofuscinosis [RCV001235065]|not provided [RCV001561994] |
Chr15:68208301 [GRCh38] Chr15:68500639 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.*991C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121406] |
Chr15:68207149 [GRCh38] Chr15:68499487 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.597C>G (p.Ala199=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121504] |
Chr15:68209705 [GRCh38] Chr15:68502043 [GRCh37] Chr15:15q23 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001071170] |
Chr15:68211847 [GRCh38] Chr15:68504185 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001221944] |
Chr15:68229545 [GRCh38] Chr15:68521883 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.431A>G (p.His144Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001042065] |
Chr15:68211730 [GRCh38] Chr15:68504068 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*749T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121408] |
Chr15:68207391 [GRCh38] Chr15:68499729 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.-92C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121603] |
Chr15:68229676 [GRCh38] Chr15:68522014 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.355A>G (p.Ile119Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001047547] |
Chr15:68211806 [GRCh38] Chr15:68504144 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*312C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001117962] |
Chr15:68207828 [GRCh38] Chr15:68500166 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.83+11G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001118066] |
Chr15:68229491 [GRCh38] Chr15:68521829 [GRCh37] Chr15:15q23 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_017882.3(CLN6):c.*1023G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001119417] |
Chr15:68207117 [GRCh38] Chr15:68499455 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*42T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001119503]|not provided [RCV001619887] |
Chr15:68208098 [GRCh38] Chr15:68500436 [GRCh37] Chr15:15q23 |
benign|uncertain significance |
NM_017882.3(CLN6):c.*882C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121407] |
Chr15:68207258 [GRCh38] Chr15:68499596 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.*481T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001116511] |
Chr15:68207659 [GRCh38] Chr15:68499997 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.719C>T (p.Ala240Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001121502] |
Chr15:68208357 [GRCh38] Chr15:68500695 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001221853] |
Chr15:68208151 [GRCh38] Chr15:68500489 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001222803] |
Chr15:68211308 [GRCh38] Chr15:68503646 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter) |
single nucleotide variant |
not provided [RCV001254802] |
Chr15:68208407 [GRCh38] Chr15:68500745 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001264033] |
Chr15:68211306 [GRCh38] Chr15:68503644 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001264034] |
Chr15:68211734 [GRCh38] Chr15:68504072 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001264035] |
Chr15:68214369 [GRCh38] Chr15:68506707 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002377479]|Neuronal ceroid lipofuscinosis [RCV001348542] |
Chr15:68218640 [GRCh38] Chr15:68510978 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.317G>A (p.Arg106His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002499607]|Neuronal ceroid lipofuscinosis [RCV001314636] |
Chr15:68211844 [GRCh38] Chr15:68504182 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001340124] |
Chr15:68229503 [GRCh38] Chr15:68521841 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001374904] |
Chr15:68208294 [GRCh38] Chr15:68500632 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001316419] |
Chr15:68229582 [GRCh38] Chr15:68521920 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.818T>C (p.Val273Ala) |
single nucleotide variant |
Neurodevelopmental disorder [RCV001374905] |
Chr15:68208258 [GRCh38] Chr15:68500596 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.199C>G (p.Leu67Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001359936] |
Chr15:68214388 [GRCh38] Chr15:68506726 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.681G>A (p.Glu227=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001433933] |
Chr15:68208395 [GRCh38] Chr15:68500733 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001296615] |
Chr15:68211803 [GRCh38] Chr15:68504141 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001362820] |
Chr15:68214366 [GRCh38] Chr15:68506704 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV003388608]|Neuronal ceroid lipofuscinosis [RCV001368706]|not specified [RCV003230664] |
Chr15:68211850 [GRCh38] Chr15:68504188 [GRCh37] Chr15:15q23 |
likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001351050] |
Chr15:68208248 [GRCh38] Chr15:68500586 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001300500] |
Chr15:68211801 [GRCh38] Chr15:68504139 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001330790] |
Chr15:68211724 [GRCh38] Chr15:68504062 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001330791] |
Chr15:68208353 [GRCh38] Chr15:68500691 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001297744] |
Chr15:68218610 [GRCh38] Chr15:68510948 [GRCh37] Chr15:15q23 |
uncertain significance |
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_017882.3(CLN6):c.455C>G (p.Pro152Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001363987] |
Chr15:68211706 [GRCh38] Chr15:68504044 [GRCh37] Chr15:15q23 |
uncertain significance |
NC_000015.9:g.(?_68500478)_(68521922_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV001352278] |
Chr15:68500478..68521922 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.506T>A (p.Leu169His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002246295]|Neuronal ceroid lipofuscinosis [RCV001314504] |
Chr15:68211299 [GRCh38] Chr15:68503637 [GRCh37] Chr15:15q23 |
likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001351485] |
Chr15:68218601 [GRCh38] Chr15:68510939 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001327274] |
Chr15:68209649 [GRCh38] Chr15:68501987 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001371839] |
Chr15:68214375 [GRCh38] Chr15:68506713 [GRCh37] Chr15:15q23 |
uncertain significance |
NC_000015.10:g.68229774_68229793dup |
duplication |
not provided [RCV001356179] |
Chr15:68229767..68229768 [GRCh38] Chr15:68522105..68522106 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002246341]|Neuronal ceroid lipofuscinosis [RCV001365750] |
Chr15:68211823 [GRCh38] Chr15:68504161 [GRCh37] Chr15:15q23 |
likely pathogenic|uncertain significance |
NM_017882.3(CLN6):c.583_596del (p.Gly195fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001380128] |
Chr15:68209706..68209719 [GRCh38] Chr15:68502044..68502057 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.528G>A (p.Leu176=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001495585] |
Chr15:68211277 [GRCh38] Chr15:68503615 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.114C>G (p.Ala38=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001499456] |
Chr15:68218620 [GRCh38] Chr15:68510958 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.294C>G (p.Leu98=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001405009] |
Chr15:68214293 [GRCh38] Chr15:68506631 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.288C>G (p.Leu96=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001430679] |
Chr15:68214299 [GRCh38] Chr15:68506637 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) |
indel |
Neuronal ceroid lipofuscinosis [RCV001385145] |
Chr15:68208363..68208364 [GRCh38] Chr15:68500701..68500702 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.28C>T (p.Leu10=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001504825] |
Chr15:68229557 [GRCh38] Chr15:68521895 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.483G>T (p.Thr161=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001484927] |
Chr15:68211678 [GRCh38] Chr15:68504016 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.225A>G (p.Pro75=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001488481] |
Chr15:68214362 [GRCh38] Chr15:68506700 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.426C>T (p.Tyr142=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001454767] |
Chr15:68211735 [GRCh38] Chr15:68504073 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.665+10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001496848] |
Chr15:68209627 [GRCh38] Chr15:68501965 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.72C>T (p.Phe24=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001459449]|not provided [RCV003394064] |
Chr15:68229513 [GRCh38] Chr15:68521851 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.157C>T (p.Leu53=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001503143] |
Chr15:68218577 [GRCh38] Chr15:68510915 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.199-4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002567961]|Neuronal ceroid lipofuscinosis [RCV001503429] |
Chr15:68214392 [GRCh38] Chr15:68506730 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.252C>T (p.Tyr84=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001466837] |
Chr15:68214335 [GRCh38] Chr15:68506673 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.121del (p.Ala41fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001383632] |
Chr15:68218613 [GRCh38] Chr15:68510951 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.21G>A (p.Arg7=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001486047] |
Chr15:68229564 [GRCh38] Chr15:68521902 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.15G>A (p.Arg5=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001489997] |
Chr15:68229570 [GRCh38] Chr15:68521908 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.519T>C (p.Asp173=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001492098] |
Chr15:68211286 [GRCh38] Chr15:68503624 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.27C>T (p.His9=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001435266] |
Chr15:68229558 [GRCh38] Chr15:68521896 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.342C>T (p.Tyr114=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001411775] |
Chr15:68211819 [GRCh38] Chr15:68504157 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.114C>T (p.Ala38=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001417243] |
Chr15:68218620 [GRCh38] Chr15:68510958 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.54G>A (p.Ala18=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001402126] |
Chr15:68229531 [GRCh38] Chr15:68521869 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.487-7C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001446515] |
Chr15:68211325 [GRCh38] Chr15:68503663 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.894G>A (p.Glu298=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001409835] |
Chr15:68208182 [GRCh38] Chr15:68500520 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.724C>T (p.Leu242=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001407702] |
Chr15:68208352 [GRCh38] Chr15:68500690 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001385144]|not provided [RCV001560278] |
Chr15:68208308 [GRCh38] Chr15:68500646 [GRCh37] Chr15:15q23 |
pathogenic|likely pathogenic |
NM_017882.3(CLN6):c.345G>A (p.Val115=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001437678] |
Chr15:68211816 [GRCh38] Chr15:68504154 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.348C>T (p.Ser116=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001440078] |
Chr15:68211813 [GRCh38] Chr15:68504151 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.747G>A (p.Lys249=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001444626] |
Chr15:68208329 [GRCh38] Chr15:68500667 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.324G>T (p.Leu108=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001410601] |
Chr15:68211837 [GRCh38] Chr15:68504175 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.637C>T (p.Leu213=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001429307] |
Chr15:68209665 [GRCh38] Chr15:68502003 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.75G>T (p.Leu25=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001442273] |
Chr15:68229510 [GRCh38] Chr15:68521848 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.543-2A>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001377170] |
Chr15:68209761 [GRCh38] Chr15:68502099 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.732C>T (p.Leu244=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001436688] |
Chr15:68208344 [GRCh38] Chr15:68500682 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.423C>T (p.Gly141=) |
single nucleotide variant |
Inborn genetic diseases [RCV002329432]|Neuronal ceroid lipofuscinosis [RCV001404067] |
Chr15:68211738 [GRCh38] Chr15:68504076 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.666-14C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001448417] |
Chr15:68208424 [GRCh38] Chr15:68500762 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.543-303G>A |
single nucleotide variant |
not provided [RCV001590337] |
Chr15:68210062 [GRCh38] Chr15:68502400 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.33A>G (p.Gly11=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001478925] |
Chr15:68229552 [GRCh38] Chr15:68521890 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.414C>T (p.Leu138=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001457224] |
Chr15:68211747 [GRCh38] Chr15:68504085 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.549C>T (p.Ile183=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001499239] |
Chr15:68209753 [GRCh38] Chr15:68502091 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.609G>A (p.Glu203=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001458215] |
Chr15:68209693 [GRCh38] Chr15:68502031 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.199-84C>T |
single nucleotide variant |
not provided [RCV001584688] |
Chr15:68214472 [GRCh38] Chr15:68506810 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.159G>A (p.Leu53=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001503874] |
Chr15:68218575 [GRCh38] Chr15:68510913 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.462C>T (p.Ile154=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001496998] |
Chr15:68211699 [GRCh38] Chr15:68504037 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.343G>A (p.Val115Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001866195]|not provided [RCV001587766] |
Chr15:68211818 [GRCh38] Chr15:68504156 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.543-10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001497721] |
Chr15:68209769 [GRCh38] Chr15:68502107 [GRCh37] Chr15:15q23 |
likely benign |
NC_000015.10:g.68229772A>G |
single nucleotide variant |
not provided [RCV001609493] |
Chr15:68229772 [GRCh38] Chr15:68522110 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.711C>T (p.Thr237=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001463412] |
Chr15:68208365 [GRCh38] Chr15:68500703 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.657G>A (p.Leu219=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001484446] |
Chr15:68209645 [GRCh38] Chr15:68501983 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.486+7C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001472173] |
Chr15:68211668 [GRCh38] Chr15:68504006 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.228C>T (p.Leu76=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001501890] |
Chr15:68214359 [GRCh38] Chr15:68506697 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.60G>A (p.Leu20=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001405531] |
Chr15:68229525 [GRCh38] Chr15:68521863 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.534C>T (p.His178=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001479730] |
Chr15:68211271 [GRCh38] Chr15:68503609 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.298-8A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001506812] |
Chr15:68211871 [GRCh38] Chr15:68504209 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.487-10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001458805] |
Chr15:68211328 [GRCh38] Chr15:68503666 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.558C>T (p.Phe186=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001478943] |
Chr15:68209744 [GRCh38] Chr15:68502082 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.321C>T (p.Thr107=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001463189] |
Chr15:68211840 [GRCh38] Chr15:68504178 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.526C>T (p.Leu176=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001467736] |
Chr15:68211279 [GRCh38] Chr15:68503617 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.297+9C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001499341] |
Chr15:68214281 [GRCh38] Chr15:68506619 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.663C>T (p.Tyr221=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001483513] |
Chr15:68209639 [GRCh38] Chr15:68501977 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.16A>C (p.Arg6=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001503832] |
Chr15:68229569 [GRCh38] Chr15:68521907 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.486+1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001377046] |
Chr15:68211674 [GRCh38] Chr15:68504012 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.196dup (p.Met66fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV001389553] |
Chr15:68218537..68218538 [GRCh38] Chr15:68510875..68510876 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.123T>A (p.Ala41=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001402177] |
Chr15:68218611 [GRCh38] Chr15:68510949 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.502C>T (p.Leu168=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001402226] |
Chr15:68211303 [GRCh38] Chr15:68503641 [GRCh37] Chr15:15q23 |
likely benign |
NC_000015.9:g.(?_68500458)_(68504221_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV001379210] |
Chr15:68500458..68504221 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.375C>T (p.Ser125=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001393847] |
Chr15:68211786 [GRCh38] Chr15:68504124 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.582C>T (p.Ser194=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001398749]|not provided [RCV001550332] |
Chr15:68209720 [GRCh38] Chr15:68502058 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.144G>A (p.Trp48Ter) |
single nucleotide variant |
not provided [RCV001780516] |
Chr15:68218590 [GRCh38] Chr15:68510928 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.875G>A (p.Gly292Asp) |
single nucleotide variant |
not provided [RCV001763083] |
Chr15:68208201 [GRCh38] Chr15:68500539 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787284] |
Chr15:68211811 [GRCh38] Chr15:68504149 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.622G>C (p.Gly208Arg) |
single nucleotide variant |
not provided [RCV001767881] |
Chr15:68209680 [GRCh38] Chr15:68502018 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001868517]|not provided [RCV001752537] |
Chr15:68211832 [GRCh38] Chr15:68504170 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.396dup (p.Val133fs) |
duplication |
Abnormality of the nervous system [RCV001814358] |
Chr15:68211764..68211765 [GRCh38] Chr15:68504102..68504103 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV001814583] |
Chr15:68208192 [GRCh38] Chr15:68500530 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.83+1G>C |
single nucleotide variant |
Abnormality of the nervous system [RCV001814357] |
Chr15:68229501 [GRCh38] Chr15:68521839 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.224del (p.Pro75fs) |
deletion |
Abnormality of the nervous system [RCV001814411] |
Chr15:68214363 [GRCh38] Chr15:68506701 [GRCh37] Chr15:15q23 |
likely pathogenic |
NC_000015.9:g.(?_66161924)_(69018313_?)dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV003120802]|not provided [RCV002045713] |
Chr15:66161924..69018313 [GRCh37] Chr15:15q22.31-23 |
uncertain significance|no classifications from unflagged records |
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001895857] |
Chr15:68209679 [GRCh38] Chr15:68502017 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002025511] |
Chr15:68214318 [GRCh38] Chr15:68506656 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.210del (p.Leu71fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001928713] |
Chr15:68214377 [GRCh38] Chr15:68506715 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.28C>G (p.Leu10Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001914190] |
Chr15:68229557 [GRCh38] Chr15:68521895 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.120G>A (p.Thr40=) |
single nucleotide variant |
Inborn genetic diseases [RCV002359384]|Neuronal ceroid lipofuscinosis [RCV001911402] |
Chr15:68218614 [GRCh38] Chr15:68510952 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001927239]|not provided [RCV003146314] |
Chr15:68208375 [GRCh38] Chr15:68500713 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001912483] |
Chr15:68208282 [GRCh38] Chr15:68500620 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001965428] |
Chr15:68208227 [GRCh38] Chr15:68500565 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002023386] |
Chr15:68218642 [GRCh38] Chr15:68510980 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001926576] |
Chr15:68208151 [GRCh38] Chr15:68500489 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del) |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV001947267] |
Chr15:68209744..68209746 [GRCh38] Chr15:68502082..68502084 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002003612] |
Chr15:68214319 [GRCh38] Chr15:68506657 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del) |
microsatellite |
Neuronal ceroid lipofuscinosis [RCV001910041] |
Chr15:68211284..68211286 [GRCh38] Chr15:68503622..68503624 [GRCh37] Chr15:15q23 |
uncertain significance |
GRCh37/hg19 15q23(chr15:68243109-68780504)x1 |
copy number loss |
not provided [RCV001833040] |
Chr15:68243109..68780504 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs) |
duplication |
Neuronal ceroid lipofuscinosis [RCV001946772] |
Chr15:68214296..68214297 [GRCh38] Chr15:68506634..68506635 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001912130] |
Chr15:68214357 [GRCh38] Chr15:68506695 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002004639] |
Chr15:68211795..68211803 [GRCh38] Chr15:68504133..68504141 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.196A>G (p.Met66Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001963407] |
Chr15:68218538 [GRCh38] Chr15:68510876 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001934400] |
Chr15:68208328 [GRCh38] Chr15:68500666 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.298-1G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001976008] |
Chr15:68211864 [GRCh38] Chr15:68504202 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.543-10C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002035185] |
Chr15:68209769 [GRCh38] Chr15:68502107 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.57G>C (p.Gln19His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001888826] |
Chr15:68229528 [GRCh38] Chr15:68521866 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.667T>C (p.Tyr223His) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001989946] |
Chr15:68208409 [GRCh38] Chr15:68500747 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg) |
indel |
Neuronal ceroid lipofuscinosis [RCV001991507] |
Chr15:68208154..68208155 [GRCh38] Chr15:68500492..68500493 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.397_398del (p.Val133fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV001937197] |
Chr15:68211763..68211764 [GRCh38] Chr15:68504101..68504102 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002012292] |
Chr15:68209700 [GRCh38] Chr15:68502038 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001952696] |
Chr15:68208204 [GRCh38] Chr15:68500542 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.750C>T (p.Arg250=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001937470] |
Chr15:68208326 [GRCh38] Chr15:68500664 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.696C>G (p.Ile232Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001931200] |
Chr15:68208380 [GRCh38] Chr15:68500718 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001997148] |
Chr15:68218626 [GRCh38] Chr15:68510964 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002011142] |
Chr15:68211784 [GRCh38] Chr15:68504122 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.655del (p.Leu219fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002035287] |
Chr15:68209647 [GRCh38] Chr15:68501985 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.757C>G (p.Leu253Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001955205] |
Chr15:68208319 [GRCh38] Chr15:68500657 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002479509]|Neuronal ceroid lipofuscinosis [RCV001955364] |
Chr15:68208157 [GRCh38] Chr15:68500495 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001981566] |
Chr15:68208217 [GRCh38] Chr15:68500555 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002034994] |
Chr15:68208319 [GRCh38] Chr15:68500657 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.333C>T (p.Ser111=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002035370] |
Chr15:68211828 [GRCh38] Chr15:68504166 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV001982083] |
Chr15:68209685 [GRCh38] Chr15:68502023 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.487-7C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002028160] |
Chr15:68211325 [GRCh38] Chr15:68503663 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter) |
insertion |
Neuronal ceroid lipofuscinosis [RCV001932695] |
Chr15:68218584..68218585 [GRCh38] Chr15:68510922..68510923 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.666-4C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002125578] |
Chr15:68208414 [GRCh38] Chr15:68500752 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.318C>T (p.Arg106=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002126202] |
Chr15:68211843 [GRCh38] Chr15:68504181 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.546C>T (p.Tyr182=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002168923] |
Chr15:68209756 [GRCh38] Chr15:68502094 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.588C>T (p.Cys196=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002205397] |
Chr15:68209714 [GRCh38] Chr15:68502052 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.409C>T (p.Leu137=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002186193] |
Chr15:68211752 [GRCh38] Chr15:68504090 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.309G>T (p.Arg103=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002092220] |
Chr15:68211852 [GRCh38] Chr15:68504190 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.456C>A (p.Pro152=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002186384] |
Chr15:68211705 [GRCh38] Chr15:68504043 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.483G>A (p.Thr161=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002087062] |
Chr15:68211678 [GRCh38] Chr15:68504016 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.396T>G (p.Ser132=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002107109] |
Chr15:68211765 [GRCh38] Chr15:68504103 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.759C>T (p.Leu253=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002089918] |
Chr15:68208317 [GRCh38] Chr15:68500655 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.298-3del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002115970] |
Chr15:68211866 [GRCh38] Chr15:68504204 [GRCh37] Chr15:15q23 |
benign |
NM_017882.3(CLN6):c.666-16C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002152975] |
Chr15:68208426 [GRCh38] Chr15:68500764 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.804G>T (p.Leu268=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002131221] |
Chr15:68208272 [GRCh38] Chr15:68500610 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.678C>G (p.Thr226=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002193729] |
Chr15:68208398 [GRCh38] Chr15:68500736 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+10C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002195918] |
Chr15:68229492 [GRCh38] Chr15:68521830 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+13C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002112264] |
Chr15:68229489 [GRCh38] Chr15:68521827 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.84-3del |
deletion |
Neuronal ceroid lipofuscinosis [RCV002087889] |
Chr15:68218653 [GRCh38] Chr15:68510991 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.804G>A (p.Leu268=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002205274] |
Chr15:68208272 [GRCh38] Chr15:68500610 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.411G>A (p.Leu137=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002129209] |
Chr15:68211750 [GRCh38] Chr15:68504088 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.852T>C (p.Pro284=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002075910] |
Chr15:68208224 [GRCh38] Chr15:68500562 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.444C>G (p.Val148=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002082512] |
Chr15:68211717 [GRCh38] Chr15:68504055 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.487-14C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002100289] |
Chr15:68211332 [GRCh38] Chr15:68503670 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.199-19dup |
duplication |
Neuronal ceroid lipofuscinosis [RCV002137870] |
Chr15:68214406..68214407 [GRCh38] Chr15:68506744..68506745 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.714C>T (p.Phe238=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002164348] |
Chr15:68208362 [GRCh38] Chr15:68500700 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.207C>T (p.Phe69=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002162920] |
Chr15:68214380 [GRCh38] Chr15:68506718 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.51C>G (p.Gly17=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002101028] |
Chr15:68229534 [GRCh38] Chr15:68521872 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+9G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002155697] |
Chr15:68229493 [GRCh38] Chr15:68521831 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.528G>C (p.Leu176=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002139445] |
Chr15:68211277 [GRCh38] Chr15:68503615 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.199-18C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002119958] |
Chr15:68214406 [GRCh38] Chr15:68506744 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.487-19C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002220023] |
Chr15:68211337 [GRCh38] Chr15:68503675 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.723G>C (p.Met241Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003162121]|Neuronal ceroid lipofuscinosis [RCV003110441] |
Chr15:68208353 [GRCh38] Chr15:68500691 [GRCh37] Chr15:15q23 |
pathogenic|uncertain significance |
NC_000015.9:g.(?_68499209)_(68500605_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003119807] |
Chr15:68499209..68500605 [GRCh37] Chr15:15q23 |
pathogenic |
NC_000015.9:g.(?_68500468)_(68504211_?)del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003119808] |
Chr15:68500468..68504211 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.542+13C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003120070] |
Chr15:68211250 [GRCh38] Chr15:68503588 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.486+17C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003121772] |
Chr15:68211658 [GRCh38] Chr15:68503996 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.666-5T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002876779] |
Chr15:68208415 [GRCh38] Chr15:68500753 [GRCh37] Chr15:15q23 |
likely benign|uncertain significance |
NM_017882.3(CLN6):c.83G>C (p.Arg28Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002434906] |
Chr15:68229502 [GRCh38] Chr15:68521840 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002291316] |
Chr15:68218576 [GRCh38] Chr15:68510914 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.866A>G (p.Lys289Arg) |
single nucleotide variant |
not provided [RCV002287016] |
Chr15:68208210 [GRCh38] Chr15:68500548 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV002465019] |
Chr15:68214290 [GRCh38] Chr15:68506628 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002303438] |
Chr15:68211751 [GRCh38] Chr15:68504089 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs) |
indel |
Ceroid lipofuscinosis, neuronal, 6A [RCV002309713] |
Chr15:68211783..68211784 [GRCh38] Chr15:68504121..68504122 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.385dup (p.Val129fs) |
duplication |
Ceroid lipofuscinosis, neuronal, 6A [RCV002307894] |
Chr15:68211775..68211776 [GRCh38] Chr15:68504113..68504114 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.1_11del (p.Met1fs) |
deletion |
not provided [RCV002305953] |
Chr15:68229574..68229584 [GRCh38] Chr15:68521912..68521922 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.322del (p.Leu108fs) |
deletion |
Ceroid lipofuscinosis, neuronal, 6A [RCV002307038] |
Chr15:68211839 [GRCh38] Chr15:68504177 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.190A>G (p.Ile64Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002408423]|Neuronal ceroid lipofuscinosis [RCV003097343] |
Chr15:68218544 [GRCh38] Chr15:68510882 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.707T>C (p.Phe236Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002365131] |
Chr15:68208369 [GRCh38] Chr15:68500707 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.486+11C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002615309] |
Chr15:68211664 [GRCh38] Chr15:68504002 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.403C>G (p.His135Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002903807] |
Chr15:68211758 [GRCh38] Chr15:68504096 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.199-16T>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002904035] |
Chr15:68214404 [GRCh38] Chr15:68506742 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.291G>A (p.Leu97=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002819749] |
Chr15:68214296 [GRCh38] Chr15:68506634 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.783C>T (p.Phe261=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002991553] |
Chr15:68208293 [GRCh38] Chr15:68500631 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.117C>A (p.Arg39=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003017588] |
Chr15:68218617 [GRCh38] Chr15:68510955 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.912C>G (p.Thr304=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002755861] |
Chr15:68208164 [GRCh38] Chr15:68500502 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.838C>A (p.Leu280Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002991813] |
Chr15:68208238 [GRCh38] Chr15:68500576 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.84-4C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003074807] |
Chr15:68218654 [GRCh38] Chr15:68510992 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter) |
insertion |
Neuronal ceroid lipofuscinosis [RCV002863628] |
Chr15:68214320..68214321 [GRCh38] Chr15:68506658..68506659 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.542+16A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002839332] |
Chr15:68211247 [GRCh38] Chr15:68503585 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+14G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003074355] |
Chr15:68229488 [GRCh38] Chr15:68521826 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.624G>A (p.Gly208=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002862708] |
Chr15:68209678 [GRCh38] Chr15:68502016 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.366G>C (p.Met122Ile) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003017288] |
Chr15:68211795 [GRCh38] Chr15:68504133 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.655C>T (p.Leu219=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002735238] |
Chr15:68209647 [GRCh38] Chr15:68501985 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.363C>T (p.Ile121=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003079808] |
Chr15:68211798 [GRCh38] Chr15:68504136 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003039429] |
Chr15:68229517 [GRCh38] Chr15:68521855 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003002748] |
Chr15:68218622 [GRCh38] Chr15:68510960 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002820710] |
Chr15:68214317 [GRCh38] Chr15:68506655 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.276C>G (p.Ile92Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003003107] |
Chr15:68214311 [GRCh38] Chr15:68506649 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003022019] |
Chr15:68211295 [GRCh38] Chr15:68503633 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.720C>T (p.Ala240=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003022018] |
Chr15:68208356 [GRCh38] Chr15:68500694 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.83+6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002979369] |
Chr15:68229496 [GRCh38] Chr15:68521834 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002927685] |
Chr15:68209737 [GRCh38] Chr15:68502075 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002912497] |
Chr15:68208148 [GRCh38] Chr15:68500486 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.198+20C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003052864] |
Chr15:68218516 [GRCh38] Chr15:68510854 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002999989] |
Chr15:68214368 [GRCh38] Chr15:68506706 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.400A>C (p.Asn134His) |
single nucleotide variant |
Inborn genetic diseases [RCV002822834] |
Chr15:68211761 [GRCh38] Chr15:68504099 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.789C>T (p.Phe263=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003077232] |
Chr15:68208287 [GRCh38] Chr15:68500625 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.204A>T (p.Val68=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003039083] |
Chr15:68214383 [GRCh38] Chr15:68506721 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003020373] |
Chr15:68218588 [GRCh38] Chr15:68510926 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.501G>A (p.Glu167=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003021398] |
Chr15:68211304 [GRCh38] Chr15:68503642 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.486+13C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002622214] |
Chr15:68211662 [GRCh38] Chr15:68504000 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002885573] |
Chr15:68208293 [GRCh38] Chr15:68500631 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.69C>T (p.Ser23=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002590664] |
Chr15:68229516 [GRCh38] Chr15:68521854 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.198+5G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002592953] |
Chr15:68218531 [GRCh38] Chr15:68510869 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.180_181del (p.Phe60fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003026180] |
Chr15:68218553..68218554 [GRCh38] Chr15:68510891..68510892 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.202G>C (p.Val68Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003043494] |
Chr15:68214385 [GRCh38] Chr15:68506723 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.198+3G>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003043647] |
Chr15:68218533 [GRCh38] Chr15:68510871 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.631C>T (p.Leu211=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002596171] |
Chr15:68209671 [GRCh38] Chr15:68502009 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003043646] |
Chr15:68209751 [GRCh38] Chr15:68502089 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.298-16C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002624153] |
Chr15:68211879 [GRCh38] Chr15:68504217 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.822G>T (p.Ala274=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002853100] |
Chr15:68208254 [GRCh38] Chr15:68500592 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.199-12T>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002801031] |
Chr15:68214400 [GRCh38] Chr15:68506738 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.407del (p.Arg136fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002958265] |
Chr15:68211754 [GRCh38] Chr15:68504092 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003005596] |
Chr15:68208330 [GRCh38] Chr15:68500668 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.543-8T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002801707] |
Chr15:68209767 [GRCh38] Chr15:68502105 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.739del (p.His247fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003057940] |
Chr15:68208337 [GRCh38] Chr15:68500675 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.141C>T (p.Leu47=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003043404] |
Chr15:68218593 [GRCh38] Chr15:68510931 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.542+2T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002643509] |
Chr15:68211261 [GRCh38] Chr15:68503599 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.81C>T (p.Ala27=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002851007] |
Chr15:68229504 [GRCh38] Chr15:68521842 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.525C>T (p.Tyr175=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002643089] |
Chr15:68211280 [GRCh38] Chr15:68503618 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002828667] |
Chr15:68209730..68209732 [GRCh38] Chr15:68502068..68502070 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002800775] |
Chr15:68208249 [GRCh38] Chr15:68500587 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.195C>A (p.Ala65=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002872087] |
Chr15:68218539 [GRCh38] Chr15:68510877 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003040162] |
Chr15:68211845 [GRCh38] Chr15:68504183 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.60G>C (p.Leu20=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002640683] |
Chr15:68229525 [GRCh38] Chr15:68521863 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.9G>A (p.Ala3=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003043129] |
Chr15:68229576 [GRCh38] Chr15:68521914 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.665+7G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002642749] |
Chr15:68209630 [GRCh38] Chr15:68501968 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.606T>C (p.Ala202=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002958361] |
Chr15:68209696 [GRCh38] Chr15:68502034 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.199-6C>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003006249] |
Chr15:68214394 [GRCh38] Chr15:68506732 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003084790] |
Chr15:68214303 [GRCh38] Chr15:68506641 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer) |
deletion |
Neuronal ceroid lipofuscinosis [RCV002872720] |
Chr15:68209756 [GRCh38] Chr15:68502094 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.640G>A (p.Val214Met) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002720779] |
Chr15:68209662 [GRCh38] Chr15:68502000 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.199-12T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002857820] |
Chr15:68214400 [GRCh38] Chr15:68506738 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002676670] |
Chr15:68208393 [GRCh38] Chr15:68500731 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002942027] |
Chr15:68208303 [GRCh38] Chr15:68500641 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002967329] |
Chr15:68211760 [GRCh38] Chr15:68504098 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.83+15G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003046750] |
Chr15:68229487 [GRCh38] Chr15:68521825 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002938229] |
Chr15:68211749 [GRCh38] Chr15:68504087 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.9G>C (p.Ala3=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002670936] |
Chr15:68229576 [GRCh38] Chr15:68521914 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.84-17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002899795] |
Chr15:68218667 [GRCh38] Chr15:68511005 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002933601] |
Chr15:68211312 [GRCh38] Chr15:68503650 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.198+17G>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003063508] |
Chr15:68218519 [GRCh38] Chr15:68510857 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.132C>T (p.His44=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002899242] |
Chr15:68218602 [GRCh38] Chr15:68510940 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002672189] |
Chr15:68211773 [GRCh38] Chr15:68504111 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.669C>T (p.Tyr223=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003089272] |
Chr15:68208407 [GRCh38] Chr15:68500745 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.840G>C (p.Leu280=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003027024] |
Chr15:68208236 [GRCh38] Chr15:68500574 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.351C>T (p.Ile117=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003086572] |
Chr15:68211810 [GRCh38] Chr15:68504148 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.665+14A>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003030905] |
Chr15:68209623 [GRCh38] Chr15:68501961 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.84-18C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003089860] |
Chr15:68218668 [GRCh38] Chr15:68511006 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.915del (p.His306fs) |
deletion |
Neuronal ceroid lipofuscinosis [RCV003047171] |
Chr15:68208161 [GRCh38] Chr15:68500499 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.814C>G (p.Leu272Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003087401] |
Chr15:68208262 [GRCh38] Chr15:68500600 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.309G>A (p.Arg103=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003086297] |
Chr15:68211852 [GRCh38] Chr15:68504190 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003009655] |
Chr15:68208201 [GRCh38] Chr15:68500539 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.364A>G (p.Met122Val) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002579230] |
Chr15:68211797 [GRCh38] Chr15:68504135 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.486+11C>A |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002835194] |
Chr15:68211664 [GRCh38] Chr15:68504002 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.24G>A (p.Gln8=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003044973] |
Chr15:68229561 [GRCh38] Chr15:68521899 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002833325] |
Chr15:68218571 [GRCh38] Chr15:68510909 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.199-6C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002603732] |
Chr15:68214394 [GRCh38] Chr15:68506732 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.666-5T>C |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003049553] |
Chr15:68208415 [GRCh38] Chr15:68500753 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003071670] |
Chr15:68208212 [GRCh38] Chr15:68500550 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.670C>T (p.Leu224=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003051895] |
Chr15:68208406 [GRCh38] Chr15:68500744 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.84-17G>T |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV002655059] |
Chr15:68218667 [GRCh38] Chr15:68511005 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.471C>G (p.Leu157=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003071794] |
Chr15:68211690 [GRCh38] Chr15:68504028 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.135C>A (p.Leu45=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003072618] |
Chr15:68218599 [GRCh38] Chr15:68510937 [GRCh37] Chr15:15q23 |
likely benign |
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 |
copy number gain |
not provided [RCV003222839] |
Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1 |
pathogenic |
NM_017882.3(CLN6):c.700T>C (p.Phe234Leu) |
single nucleotide variant |
not provided [RCV003145045] |
Chr15:68208376 [GRCh38] Chr15:68500714 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.142T>A (p.Trp48Arg) |
single nucleotide variant |
not provided [RCV003145046] |
Chr15:68218592 [GRCh38] Chr15:68510930 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.843G>C (p.Trp281Cys) |
single nucleotide variant |
not provided [RCV003329897] |
Chr15:68208233 [GRCh38] Chr15:68500571 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.195dup (p.Met66fs) |
duplication |
Ceroid lipofuscinosis, neuronal, 6A [RCV003334470] |
Chr15:68218538..68218539 [GRCh38] Chr15:68510876..68510877 [GRCh37] Chr15:15q23 |
likely pathogenic |
NM_017882.3(CLN6):c.883T>C (p.Tyr295His) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV003448766] |
Chr15:68208193 [GRCh38] Chr15:68500531 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys) |
single nucleotide variant |
Ceroid lipofuscinosis, neuronal, 6A [RCV003388913] |
Chr15:68214309 [GRCh38] Chr15:68506647 [GRCh37] Chr15:15q23 |
pathogenic |
NM_017882.3(CLN6):c.507CTA[1] (p.Tyr172del) |
microsatellite |
not specified [RCV003388365] |
Chr15:68211293..68211295 [GRCh38] Chr15:68503631..68503633 [GRCh37] Chr15:15q23 |
uncertain significance |
NM_017882.3(CLN6):c.542+15del |
deletion |
Neuronal ceroid lipofuscinosis [RCV003877070] |
Chr15:68211248 [GRCh38] Chr15:68503586 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.255C>T (p.Phe85=) |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003647374] |
Chr15:68214332 [GRCh38] Chr15:68506670 [GRCh37] Chr15:15q23 |
likely benign |
NM_017882.3(CLN6):c.486+19C>G |
single nucleotide variant |
Neuronal ceroid lipofuscinosis [RCV003879093] |
Chr15:68211656 [GRCh38] Chr15:68503994 [GRCh37] Chr15:15q23 |
likely benign |