CLN5 (CLN5 intracellular trafficking protein) - Rat Genome Database

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Gene: CLN5 (CLN5 intracellular trafficking protein) Homo sapiens
Analyze
Symbol: CLN5
Name: CLN5 intracellular trafficking protein
RGD ID: 1315879
HGNC Page HGNC:2076
Description: Enables mannose binding activity. Involved in several processes, including lysosomal lumen acidification; nervous system development; and signal peptide processing. Located in several cellular components, including Golgi apparatus; lysosomal membrane; and perinuclear region of cytoplasm. Implicated in neuronal ceroid lipofuscinosis 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ceroid-lipofuscinosis neuronal protein 5; ceroid-lipofuscinosis, neuronal 5; FLJ90628; NCL
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381376,992,081 - 77,005,117 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1376,990,660 - 77,019,143 (+)EnsemblGRCh38hg38GRCh38
GRCh371377,566,216 - 77,579,252 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361376,462,796 - 76,474,653 (+)NCBINCBI36Build 36hg18NCBI36
Build 341376,462,795 - 76,474,652NCBI
Celera1358,464,047 - 58,474,640 (+)NCBICelera
Cytogenetic Map13q22.3NCBI
HuRef1358,263,758 - 58,274,351 (+)NCBIHuRef
CHM1_11377,533,965 - 77,544,558 (+)NCBICHM1_1
T2T-CHM13v2.01376,215,721 - 76,228,757 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal nervous system electrophysiology  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Clumsiness  (IAGP)
Corpus callosum atrophy  (IAGP)
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Developmental regression  (IAGP)
Dysarthria  (IAGP)
Dysdiadochokinesis  (IAGP)
Dysmetria  (IAGP)
EEG with focal spikes  (IAGP)
EEG with generalized slow activity  (IAGP)
EEG with spike-wave complexes  (IAGP)
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Focal myoclonic seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Hallucinations  (IAGP)
Hyperactivity  (IAGP)
Hyperreflexia  (IAGP)
Inability to walk  (IAGP)
Increased neuronal autofluorescent lipopigment  (IAGP)
Intellectual disability  (IAGP)
Language impairment  (IAGP)
Mental deterioration  (IAGP)
Motor deterioration  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonus  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive trait  (IAGP)
Periventricular white matter hyperintensities  (IAGP)
Poor gross motor coordination  (IAGP)
Postural instability  (IAGP)
Progressive visual loss  (IAGP)
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Retinal degeneration  (IAGP)
Seizure  (IAGP)
Sleep disturbance  (IAGP)
Spasticity  (IAGP)
Tremor  (IAGP)
Truncal ataxia  (IAGP)
Unsteady gait  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:193610   PMID:7942847   PMID:8661106   PMID:9662406   PMID:10477428   PMID:10740217   PMID:10992246   PMID:11722572   PMID:11971870   PMID:12125809   PMID:12134079   PMID:14699076  
PMID:14997939   PMID:15728307   PMID:16399764   PMID:16814585   PMID:17353931   PMID:17607606   PMID:19174516   PMID:19201763   PMID:19309691   PMID:19941651   PMID:20052765   PMID:20157158  
PMID:20301317   PMID:20301334   PMID:20301601   PMID:21873635   PMID:22431521   PMID:23160995   PMID:23464991   PMID:23533145   PMID:24058541   PMID:25158072   PMID:25359263   PMID:26186194  
PMID:26342652   PMID:27488642   PMID:28514442   PMID:28542837   PMID:29715546   PMID:30037983   PMID:30078766   PMID:30264640   PMID:30919163   PMID:32296183   PMID:32302805   PMID:32393339  
PMID:32460013   PMID:32487141   PMID:32994395   PMID:33507209   PMID:33961781   PMID:34680045   PMID:35427157   PMID:35921411  


Genomics

Comparative Map Data
CLN5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381376,992,081 - 77,005,117 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1376,990,660 - 77,019,143 (+)EnsemblGRCh38hg38GRCh38
GRCh371377,566,216 - 77,579,252 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361376,462,796 - 76,474,653 (+)NCBINCBI36Build 36hg18NCBI36
Build 341376,462,795 - 76,474,652NCBI
Celera1358,464,047 - 58,474,640 (+)NCBICelera
Cytogenetic Map13q22.3NCBI
HuRef1358,263,758 - 58,274,351 (+)NCBIHuRef
CHM1_11377,533,965 - 77,544,558 (+)NCBICHM1_1
T2T-CHM13v2.01376,215,721 - 76,228,757 (+)NCBIT2T-CHM13v2.0
Cln5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914103,307,652 - 103,315,066 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14103,307,652 - 103,315,064 (+)EnsemblGRCm39 Ensembl
GRCm3814103,070,216 - 103,077,630 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14103,070,216 - 103,077,628 (+)EnsemblGRCm38mm10GRCm38
MGSCv3714103,469,433 - 103,476,847 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614101,956,722 - 101,964,130 (+)NCBIMGSCv36mm8
Celera14101,698,089 - 101,705,503 (+)NCBICelera
Cytogenetic Map14E2.3NCBI
cM Map1451.71NCBI
Cln5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21579,893,573 - 79,903,438 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1579,893,548 - 79,903,438 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1583,872,121 - 83,881,834 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01584,995,156 - 85,004,873 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01581,922,785 - 81,932,498 (+)NCBIRnor_WKY
Rnor_6.01593,634,815 - 93,644,146 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01597,122,608 - 97,131,939 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41587,080,071 - 87,089,784 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11587,095,850 - 87,104,041 (+)NCBI
Celera1579,034,732 - 79,043,598 (+)NCBICelera
Cytogenetic Map15q23NCBI
Cln5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540430,229,632 - 30,235,679 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540430,229,632 - 30,235,677 (-)NCBIChiLan1.0ChiLan1.0
CLN5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11377,253,203 - 77,263,759 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1377,253,203 - 77,263,759 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01358,207,542 - 58,220,697 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CLN5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12230,568,572 - 30,575,890 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2230,568,572 - 30,575,890 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2230,429,669 - 30,436,988 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02230,880,658 - 30,887,978 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2230,880,658 - 30,889,771 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12230,548,135 - 30,555,449 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02230,586,449 - 30,593,758 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02230,655,942 - 30,663,260 (+)NCBIUU_Cfam_GSD_1.0
Cln5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945128,865,789 - 128,874,778 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365114,283,009 - 4,292,376 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365114,283,016 - 4,291,968 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLN5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1149,105,878 - 49,129,886 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11149,105,822 - 49,128,425 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21153,744,011 - 53,766,580 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLN5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1356,074,701 - 56,086,433 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl356,076,226 - 56,086,963 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604612,283,338 - 12,295,116 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cln5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475123,396,789 - 23,404,906 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475123,395,284 - 23,404,798 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLN5
344 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006493.4(CLN5):c.136G>T (p.Gly46Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272140]|Neuronal ceroid lipofuscinosis [RCV000807315]|not provided [RCV000523521] Chr13:76992234 [GRCh38]
Chr13:77566369 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.704T>C (p.Val235Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272148]|Neuronal ceroid lipofuscinosis [RCV000550237] Chr13:77000596 [GRCh38]
Chr13:77574731 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.175C>T (p.Arg59Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001785653]|Neuronal ceroid lipofuscinosis [RCV001226921]|not provided [RCV000520270] Chr13:76995064 [GRCh38]
Chr13:77569199 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.566-42_*46del deletion Neuronal ceroid lipofuscinosis 5 [RCV000002680] Chr13:77000416..77001015 [GRCh38]
Chr13:77574551..77575150 [GRCh37]
Chr13:13q21.1-q32		 pathogenic
NM_006493.4(CLN5):c.765C>G (p.Asn255Lys) single nucleotide variant not provided [RCV000729890] Chr13:77000657 [GRCh38]
Chr13:77574792 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-86C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000547162] Chr13:76992013 [GRCh38]
Chr13:77566148 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.84G>A (p.Trp28Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000984156]|Neuronal ceroid lipofuscinosis [RCV001858008]|not provided [RCV000521345] Chr13:76992182 [GRCh38]
Chr13:77566317 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) microsatellite Neuronal ceroid lipofuscinosis 5 [RCV000002673]|Neuronal ceroid lipofuscinosis [RCV000684967]|not provided [RCV000484812] Chr13:77000918..77000919 [GRCh38]
Chr13:77575053..77575054 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000002674]|Neuronal ceroid lipofuscinosis [RCV000689128] Chr13:76992176 [GRCh38]
Chr13:77566311 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000002675]|Neuronal ceroid lipofuscinosis [RCV000989152] Chr13:77000580 [GRCh38]
Chr13:77574715 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.188G>A (p.Arg63His) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000002676]|Neuronal ceroid lipofuscinosis [RCV000698933] Chr13:76995077 [GRCh38]
Chr13:77569212 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000002677]|Neuronal ceroid lipofuscinosis [RCV002512684] Chr13:77000799 [GRCh38]
Chr13:77574934 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000002678]|Neuronal ceroid lipofuscinosis [RCV001039257] Chr13:76995119 [GRCh38]
Chr13:77569254 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000002679]|Neuronal ceroid lipofuscinosis [RCV001318349]|not provided [RCV000493479] Chr13:77000866 [GRCh38]
Chr13:77575001 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049938] Chr13:77000771 [GRCh38]
Chr13:77574906 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.924_925del (p.Leu309fs) microsatellite Neuronal ceroid lipofuscinosis 5 [RCV000049939]|Neuronal ceroid lipofuscinosis [RCV001389657]|not provided [RCV000724349] Chr13:77000813..77000814 [GRCh38]
Chr13:77574948..77574949 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.925_926del (p.Leu309fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000049940] Chr13:77000817..77000818 [GRCh38]
Chr13:77574952..77574953 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.936del (p.Phe312fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000049941]|Neuronal ceroid lipofuscinosis [RCV000803462] Chr13:77000824 [GRCh38]
Chr13:77574959 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000049942]|Neuronal ceroid lipofuscinosis [RCV000632714]|not provided [RCV001664236] Chr13:77000845..77000848 [GRCh38]
Chr13:77574980..77574983 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049943]|Neuronal ceroid lipofuscinosis [RCV000823474]|not provided [RCV001092076] Chr13:77000882 [GRCh38]
Chr13:77575017 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_006493.4(CLN5):c.144dup (p.Ser49fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV000049945]|Neuronal ceroid lipofuscinosis [RCV001527017] Chr13:76992238..76992239 [GRCh38]
Chr13:77566373..77566374 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049946]|Neuronal ceroid lipofuscinosis [RCV000989149] Chr13:76995077 [GRCh38]
Chr13:77569212 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049947]|Neuronal ceroid lipofuscinosis [RCV001058589] Chr13:76995175 [GRCh38]
Chr13:77569310 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.339+5G>C single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049948]|Neuronal ceroid lipofuscinosis [RCV001257241] Chr13:76995233 [GRCh38]
Chr13:77569368 [GRCh37]
Chr13:13q22.3		 likely pathogenic|uncertain significance
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049949]|Neuronal ceroid lipofuscinosis [RCV002265586] Chr13:76995939 [GRCh38]
Chr13:77570074 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) insertion Neuronal ceroid lipofuscinosis 5 [RCV000049950] Chr13:76995942..76995943 [GRCh38]
Chr13:77570077..77570078 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049951] Chr13:76995980 [GRCh38]
Chr13:77570115 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049952]|Neuronal ceroid lipofuscinosis [RCV000989151] Chr13:76995990 [GRCh38]
Chr13:77570125 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049953]|Neuronal ceroid lipofuscinosis [RCV001044966] Chr13:76996008 [GRCh38]
Chr13:77570143 [GRCh37]
Chr13:13q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049954]|Neuronal ceroid lipofuscinosis [RCV001853061] Chr13:76996028 [GRCh38]
Chr13:77570163 [GRCh37]
Chr13:13q22.3		 likely pathogenic|uncertain significance
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049955] Chr13:76996035 [GRCh38]
Chr13:77570170 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.522dup (p.Trp175fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV000049956]|Neuronal ceroid lipofuscinosis [RCV000690321] Chr13:76996083..76996084 [GRCh38]
Chr13:77570218..77570219 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049957]|Neuronal ceroid lipofuscinosis [RCV000818212]|not provided [RCV000187071] Chr13:76996086 [GRCh38]
Chr13:77570221 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049958] Chr13:77000517 [GRCh38]
Chr13:77574652 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.772del (p.Arg258fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000049959]|Neuronal ceroid lipofuscinosis [RCV001853062] Chr13:77000663 [GRCh38]
Chr13:77574798 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000049960]|Neuronal ceroid lipofuscinosis [RCV001390094]|not provided [RCV000675522] Chr13:77000695..77000710 [GRCh38]
Chr13:77574830..77574845 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|See cases [RCV000053768] Chr13:71509212..82146085 [GRCh38]
Chr13:72083344..82720220 [GRCh37]
Chr13:70981345..81618221 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) deletion Inborn genetic diseases [RCV002316300]|Neuronal ceroid lipofuscinosis 5 [RCV000116757]|Neuronal ceroid lipofuscinosis [RCV001036078]|not provided [RCV001008713] Chr13:76996086 [GRCh38]
Chr13:77570221 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006493.4(CLN5):c.87C>G (p.Ala29=) single nucleotide variant Inborn genetic diseases [RCV002311632]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000365818]|Neuronal ceroid lipofuscinosis 5 [RCV001113459]|Neuronal ceroid lipofuscinosis [RCV000234275]|not provided [RCV000675516]|not specified [RCV000081416] Chr13:76992185 [GRCh38]
Chr13:77566320 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006493.4(CLN5):c.173+18C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001509975]|not provided [RCV000675518]|not specified [RCV000081417] Chr13:76992289 [GRCh38]
Chr13:77566424 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.-76A>G single nucleotide variant Inborn genetic diseases [RCV002311633]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000305280]|Neuronal ceroid lipofuscinosis 5 [RCV001111454]|Neuronal ceroid lipofuscinosis [RCV001272138]|not provided [RCV000675515]|not specified [RCV000081418] Chr13:76992023 [GRCh38]
Chr13:77566158 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006493.4(CLN5):c.761C>T (p.Thr254Ile) single nucleotide variant not provided [RCV000081419] Chr13:77000653 [GRCh38]
Chr13:77574788 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) single nucleotide variant Inborn genetic diseases [RCV002312074]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000372934]|Neuronal ceroid lipofuscinosis 5 [RCV000610127]|Neuronal ceroid lipofuscinosis [RCV001273177]|not provided [RCV000675523]|not specified [RCV000116751] Chr13:77000848 [GRCh38]
Chr13:77574983 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) single nucleotide variant Inborn genetic diseases [RCV002312075]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000259654]|Neuronal ceroid lipofuscinosis 5 [RCV001109214]|Neuronal ceroid lipofuscinosis [RCV001079952]|not provided [RCV000675524]|not specified [RCV000116752] Chr13:77000933 [GRCh38]
Chr13:77575068 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.1045C>T (p.Pro349Ser) single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000319549]|Neuronal ceroid lipofuscinosis 5 [RCV000678298]|Neuronal ceroid lipofuscinosis [RCV000543328]|not provided [RCV000116753] Chr13:77000937 [GRCh38]
Chr13:77575072 [GRCh37]
Chr13:13q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.173+8C>T single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000271170]|Neuronal ceroid lipofuscinosis 5 [RCV001113461]|Neuronal ceroid lipofuscinosis [RCV001272141]|not provided [RCV000675517]|not specified [RCV000116754] Chr13:76992279 [GRCh38]
Chr13:77566414 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.-144C>T single nucleotide variant Inborn genetic diseases [RCV002312076]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000337559]|Neuronal ceroid lipofuscinosis 5 [RCV001109122]|Neuronal ceroid lipofuscinosis [RCV001272136]|not provided [RCV000675514]|not specified [RCV000116755] Chr13:76991955 [GRCh38]
Chr13:77566090 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.381T>G (p.Thr127=) single nucleotide variant Inborn genetic diseases [RCV002312077]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000312256]|Neuronal ceroid lipofuscinosis 5 [RCV001113462]|Neuronal ceroid lipofuscinosis [RCV000476942]|not provided [RCV000675520]|not specified [RCV000116756] Chr13:76995943 [GRCh38]
Chr13:77570078 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.705G>A (p.Val235=) single nucleotide variant Inborn genetic diseases [RCV002312550]|Neuronal ceroid lipofuscinosis [RCV001082700]|not provided [RCV000461034]|not specified [RCV000178272] Chr13:77000597 [GRCh38]
Chr13:77574732 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.-4C>T single nucleotide variant Inborn genetic diseases [RCV002316354]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000360042]|Neuronal ceroid lipofuscinosis 5 [RCV001111457]|Neuronal ceroid lipofuscinosis [RCV001081887]|not provided [RCV000711258]|not specified [RCV000124330] Chr13:76992095 [GRCh38]
Chr13:77566230 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) single nucleotide variant Inborn genetic diseases [RCV002312551]|Neuronal ceroid lipofuscinosis 5 [RCV000603044]|Neuronal ceroid lipofuscinosis [RCV001082459]|not provided [RCV000675521]|not specified [RCV000178274] Chr13:77000471 [GRCh38]
Chr13:77574606 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.1000A>G (p.Met334Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001367919] Chr13:77000892 [GRCh38]
Chr13:77575027 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) single nucleotide variant Inborn genetic diseases [RCV002321680]|Neuronal ceroid lipofuscinosis 5 [RCV000170441]|Neuronal ceroid lipofuscinosis [RCV001054069] Chr13:76995076 [GRCh38]
Chr13:77569211 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002516584]|not provided [RCV000173406] Chr13:76991973 [GRCh38]
Chr13:77566108 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-87C>T single nucleotide variant Inborn genetic diseases [RCV002313021]|Neuronal ceroid lipofuscinosis 5 [RCV000671703]|Neuronal ceroid lipofuscinosis [RCV000989147]|not provided [RCV000429471]|not specified [RCV000187062] Chr13:76992012 [GRCh38]
Chr13:77566147 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.2(CLN5):c.77C>A (p.Ala26Glu) single nucleotide variant Inborn genetic diseases [RCV002408752]|not provided [RCV000173408] Chr13:76992028 [GRCh38]
Chr13:77566163 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1 copy number loss See cases [RCV000134874] Chr13:66320998..87855429 [GRCh38]
Chr13:66895130..88507684 [GRCh37]
Chr13:65793131..87305685 [NCBI36]
Chr13:13q21.32-31.2		 pathogenic
GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1 copy number loss See cases [RCV000134951] Chr13:60536344..84553188 [GRCh38]
Chr13:61110478..85127323 [GRCh37]
Chr13:60008479..84025324 [NCBI36]
Chr13:13q21.2-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1 copy number loss See cases [RCV000138575] Chr13:72681540..79638468 [GRCh38]
Chr13:73255678..80212603 [GRCh37]
Chr13:72153679..79110604 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1 copy number loss See cases [RCV000141902] Chr13:76530209..78531570 [GRCh38]
Chr13:77104344..79105705 [GRCh37]
Chr13:76002345..78003706 [NCBI36]
Chr13:13q22.2-31.1		 pathogenic|uncertain significance
GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1 copy number loss See cases [RCV000141460] Chr13:63713365..79638415 [GRCh38]
Chr13:64287498..80212550 [GRCh37]
Chr13:63185499..79110551 [NCBI36]
Chr13:13q21.31-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
NM_006493.4(CLN5):c.-146T>C single nucleotide variant Inborn genetic diseases [RCV002316962]|Neuronal ceroid lipofuscinosis 5 [RCV000778400]|Neuronal ceroid lipofuscinosis [RCV000989146]|not provided [RCV000711260] Chr13:76991953 [GRCh38]
Chr13:77566088 [GRCh37]
Chr13:13q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000161918]|Neuronal ceroid lipofuscinosis [RCV002515118] Chr13:77000680 [GRCh38]
Chr13:77574815 [GRCh37]
Chr13:13q22.3		 pathogenic|uncertain significance|not provided
NM_006493.4(CLN5):c.777_778del (p.Phe260fs) microsatellite Inborn genetic diseases [RCV002372061]|Neuronal ceroid lipofuscinosis 5 [RCV000169429]|Neuronal ceroid lipofuscinosis [RCV000468638]|not provided [RCV000413943] Chr13:77000667..77000668 [GRCh38]
Chr13:77574802..77574803 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.775A>T (p.Ile259Leu) single nucleotide variant not provided [RCV000178273] Chr13:77000667 [GRCh38]
Chr13:77574802 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001028014]|not provided [RCV000724376] Chr13:76995977 [GRCh38]
Chr13:77570112 [GRCh37]
Chr13:13q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.371del (p.Ser124fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000184038]|Neuronal ceroid lipofuscinosis [RCV000989150] Chr13:76995933 [GRCh38]
Chr13:77570068 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.2(CLN5):c.5G>C (p.Arg2Pro) single nucleotide variant not specified [RCV000187044] Chr13:76991956 [GRCh38]
Chr13:77566091 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.47GCGCGG[3] (p.16GA[3]) microsatellite Neuronal ceroid lipofuscinosis 5 [RCV000671176]|Neuronal ceroid lipofuscinosis [RCV000795708]|not specified [RCV000187049] Chr13:76992142..76992143 [GRCh38]
Chr13:77566277..77566278 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.80G>A (p.Cys27Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001785508]|Neuronal ceroid lipofuscinosis [RCV001248410]|not provided [RCV000187051] Chr13:76992178 [GRCh38]
Chr13:77566313 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.1067_1068del (p.Ser356fs) microsatellite Neuronal ceroid lipofuscinosis 5 [RCV001729447]|Neuronal ceroid lipofuscinosis [RCV001852447]|not provided [RCV000187074] Chr13:77000955..77000956 [GRCh38]
Chr13:77575090..77575091 [GRCh37]
Chr13:13q22.3		 pathogenic|uncertain significance
NM_006493.2(CLN5):c.71G>T (p.Gly24Val) single nucleotide variant not specified [RCV000187076] Chr13:76992022 [GRCh38]
Chr13:77566157 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.752A>G (p.Asn251Ser) single nucleotide variant not specified [RCV000187039] Chr13:77000644 [GRCh38]
Chr13:77574779 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.4C>A (p.Arg2Ser) single nucleotide variant not specified [RCV000187043] Chr13:76991955 [GRCh38]
Chr13:77566090 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.22G>C (p.Gly8Arg) single nucleotide variant Inborn genetic diseases [RCV002513988]|Neuronal ceroid lipofuscinosis 5 [RCV001109123]|Neuronal ceroid lipofuscinosis [RCV000814647]|not provided [RCV000187045] Chr13:76991973 [GRCh38]
Chr13:77566108 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.-99G>C single nucleotide variant Inborn genetic diseases [RCV002314700]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000405110]|Neuronal ceroid lipofuscinosis 5 [RCV001111453]|Neuronal ceroid lipofuscinosis [RCV001083336]|not provided [RCV000514392]|not specified [RCV000187046] Chr13:76992000 [GRCh38]
Chr13:77566135 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.2(CLN5):c.116C>G (p.Ser39Trp) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001729445]|Neuronal ceroid lipofuscinosis [RCV001058811]|not specified [RCV000187047] Chr13:76992067 [GRCh38]
Chr13:77566202 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV002317080]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000395302]|Neuronal ceroid lipofuscinosis 5 [RCV001111458]|Neuronal ceroid lipofuscinosis [RCV001082301]|not provided [RCV000726511]|not specified [RCV001727624] Chr13:76992103 [GRCh38]
Chr13:77566238 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) single nucleotide variant Inborn genetic diseases [RCV002314701]|Neuronal ceroid lipofuscinosis 5 [RCV000755716]|Neuronal ceroid lipofuscinosis [RCV000989148]|not provided [RCV000711259]|not specified [RCV000187050] Chr13:76992174 [GRCh38]
Chr13:77566309 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn) single nucleotide variant Inborn genetic diseases [RCV002314702]|Neuronal ceroid lipofuscinosis 5 [RCV001272143]|Neuronal ceroid lipofuscinosis [RCV000698534]|not provided [RCV000726905] Chr13:76995154 [GRCh38]
Chr13:77569289 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.662G>A (p.Gly221Glu) single nucleotide variant Inborn genetic diseases [RCV002415803]|Neuronal ceroid lipofuscinosis 5 [RCV001785509]|Neuronal ceroid lipofuscinosis [RCV001242834]|not provided [RCV000187053] Chr13:77000554 [GRCh38]
Chr13:77574689 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.775A>G (p.Ile259Val) single nucleotide variant not provided [RCV000187054] Chr13:77000667 [GRCh38]
Chr13:77574802 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.885C>G (p.Phe295Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001827995]|not provided [RCV000187055] Chr13:77000777 [GRCh38]
Chr13:77574912 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1019A>C (p.Lys340Thr) single nucleotide variant Inborn genetic diseases [RCV002314703]|Neuronal ceroid lipofuscinosis 5 [RCV001114862]|Neuronal ceroid lipofuscinosis [RCV000532983]|not provided [RCV000187057] Chr13:77000911 [GRCh38]
Chr13:77575046 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000672217]|Neuronal ceroid lipofuscinosis [RCV002054194]|not provided [RCV000187058] Chr13:76991953 [GRCh38]
Chr13:77566088 [GRCh37]
Chr13:13q22.3		 pathogenic|likely benign|uncertain significance
NM_006493.4(CLN5):c.-141C>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001785510]|Neuronal ceroid lipofuscinosis [RCV000696323]|not provided [RCV000187059] Chr13:76991958 [GRCh38]
Chr13:77566093 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.52C>A (p.Gln18Lys) single nucleotide variant Inborn genetic diseases [RCV002516985]|Neuronal ceroid lipofuscinosis 5 [RCV001785511]|Neuronal ceroid lipofuscinosis [RCV000686964]|not provided [RCV000187060] Chr13:76992003 [GRCh38]
Chr13:77566138 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.487G>A (p.Ala163Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272146]|Neuronal ceroid lipofuscinosis [RCV001239747]|not provided [RCV000187061] Chr13:76996049 [GRCh38]
Chr13:77570184 [GRCh37]
Chr13:13q22.3		 pathogenic|uncertain significance
NM_006493.2(CLN5):c.116C>A (p.Ser39Ter) single nucleotide variant Inborn genetic diseases [RCV002327011]|Neuronal ceroid lipofuscinosis 5 [RCV001729446]|Neuronal ceroid lipofuscinosis [RCV001852446]|not provided [RCV000187063] Chr13:76992067 [GRCh38]
Chr13:77566202 [GRCh37]
Chr13:13q22.3		 pathogenic|uncertain significance
NM_006493.4(CLN5):c.-21G>A single nucleotide variant Inborn genetic diseases [RCV002314704]|Neuronal ceroid lipofuscinosis 5 [RCV001111455]|Neuronal ceroid lipofuscinosis [RCV000819089]|not provided [RCV000187064] Chr13:76992078 [GRCh38]
Chr13:77566213 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-14C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000465449] Chr13:76992085 [GRCh38]
Chr13:77566220 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.61C>T (p.Arg21Trp) single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000306509]|Neuronal ceroid lipofuscinosis 5 [RCV001111459]|Neuronal ceroid lipofuscinosis [RCV000553078]|not provided [RCV000187066] Chr13:76992159 [GRCh38]
Chr13:77566294 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.106G>C (p.Ala36Pro) single nucleotide variant Inborn genetic diseases [RCV002311261]|Neuronal ceroid lipofuscinosis 5 [RCV001336971]|Neuronal ceroid lipofuscinosis [RCV000473058]|not provided [RCV000726582] Chr13:76992204 [GRCh38]
Chr13:77566339 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.371G>A (p.Ser124Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272144]|Neuronal ceroid lipofuscinosis [RCV000693093]|not provided [RCV000766777]|not specified [RCV000187068] Chr13:76995933 [GRCh38]
Chr13:77570068 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000613275]|Neuronal ceroid lipofuscinosis [RCV000556663]|not provided [RCV000187069] Chr13:76996010 [GRCh38]
Chr13:77570145 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) single nucleotide variant Inborn genetic diseases [RCV002314705]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000367115]|Neuronal ceroid lipofuscinosis 5 [RCV001113463]|Neuronal ceroid lipofuscinosis [RCV000536823]|not provided [RCV000724910] Chr13:76996021 [GRCh38]
Chr13:77570156 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001785512]|Neuronal ceroid lipofuscinosis [RCV000702222]|not provided [RCV000711261] Chr13:76996088 [GRCh38]
Chr13:77570223 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.569A>G (p.Asn190Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001275304]|Neuronal ceroid lipofuscinosis [RCV000473641]|not provided [RCV000187073] Chr13:77000461 [GRCh38]
Chr13:77574596 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.64C>T (p.Arg22Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002599439] Chr13:76992015 [GRCh38]
Chr13:77566150 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1 copy number loss See cases [RCV000240205] Chr13:72013791..88021559 [GRCh37]
Chr13:13q21.33-31.2		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000210062]|Neuronal ceroid lipofuscinosis [RCV002282043] Chr13:76996109 [GRCh38]
Chr13:77570244 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.812A>G (p.Asn271Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001114860]|Neuronal ceroid lipofuscinosis [RCV000230950]|not provided [RCV000481695] Chr13:77000704 [GRCh38]
Chr13:77574839 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q22.3(chr13:77574552-77575350)x1 copy number loss See cases [RCV000239964] Chr13:77574552..77575350 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.*180C>T single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000286703]|Neuronal ceroid lipofuscinosis 5 [RCV001109220]|not provided [RCV001576894] Chr13:77001149 [GRCh38]
Chr13:77575284 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.*33A>G single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000374238]|Neuronal ceroid lipofuscinosis 5 [RCV001109215]|not provided [RCV001636886] Chr13:77001002 [GRCh38]
Chr13:77575137 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_006493.4(CLN5):c.*177A>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000378855]|Neuronal ceroid lipofuscinosis 5 [RCV001109219] Chr13:77001146 [GRCh38]
Chr13:77575281 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*1279G>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000276913]|Neuronal ceroid lipofuscinosis 5 [RCV001114957] Chr13:77002248 [GRCh38]
Chr13:77576383 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_006493.4(CLN5):c.566-7A>G single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000277190]|Neuronal ceroid lipofuscinosis 5 [RCV001113464]|Neuronal ceroid lipofuscinosis [RCV000981024]|not specified [RCV000431986] Chr13:77000451 [GRCh38]
Chr13:77574586 [GRCh37]
Chr13:13q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.*155C>T single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000283336]|Neuronal ceroid lipofuscinosis 5 [RCV001109216]|not provided [RCV001660629] Chr13:77001124 [GRCh38]
Chr13:77575259 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_006493.4(CLN5):c.*292G>A single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000344084]|Neuronal ceroid lipofuscinosis 5 [RCV001111550]|not provided [RCV001690034] Chr13:77001261 [GRCh38]
Chr13:77575396 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_006493.4(CLN5):c.*1169T>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000369306]|Neuronal ceroid lipofuscinosis 5 [RCV001113554] Chr13:77002138 [GRCh38]
Chr13:77576273 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.152G>A (p.Arg51His) single nucleotide variant Inborn genetic diseases [RCV002314014]|Neuronal ceroid lipofuscinosis 5 [RCV001275302]|Neuronal ceroid lipofuscinosis [RCV001047274]|not provided [RCV000725568] Chr13:76992250 [GRCh38]
Chr13:77566385 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*721G>A single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000308848]|Neuronal ceroid lipofuscinosis 5 [RCV001113547] Chr13:77001690 [GRCh38]
Chr13:77575825 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*310T>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000403374]|Neuronal ceroid lipofuscinosis 5 [RCV001111551] Chr13:77001279 [GRCh38]
Chr13:77575414 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.342A>G (p.Lys114=) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001729510]|Neuronal ceroid lipofuscinosis [RCV001464349]|not provided [RCV000354768] Chr13:76995904 [GRCh38]
Chr13:77570039 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.642A>T (p.Val214=) single nucleotide variant Inborn genetic diseases [RCV002418163]|Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000332312]|Neuronal ceroid lipofuscinosis 5 [RCV001114857]|Neuronal ceroid lipofuscinosis [RCV000632739]|not specified [RCV000440562] Chr13:77000534 [GRCh38]
Chr13:77574669 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.*1132A>G single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000312250]|Neuronal ceroid lipofuscinosis 5 [RCV001113552] Chr13:77002101 [GRCh38]
Chr13:77576236 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_006493.4(CLN5):c.*158C>G single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000340633]|Neuronal ceroid lipofuscinosis 5 [RCV001109217]|not provided [RCV001690033] Chr13:77001127 [GRCh38]
Chr13:77575262 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_006493.4(CLN5):c.74C>T (p.Ser25Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001829404]|not provided [RCV000489434] Chr13:76992172 [GRCh38]
Chr13:77566307 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.89T>C (p.Leu30Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001280031] Chr13:76992187 [GRCh38]
Chr13:77566322 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.787A>G (p.Ser263Gly) single nucleotide variant not provided [RCV001269549] Chr13:77000679 [GRCh38]
Chr13:77574814 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.*907_*910del deletion Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000347500] Chr13:77001874..77001877 [GRCh38]
Chr13:77576009..77576012 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.21G>T (p.Thr7=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000950354]|not specified [RCV000605312] Chr13:76992119 [GRCh38]
Chr13:77566254 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.*954T>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive [RCV000396698]|Neuronal ceroid lipofuscinosis 5 [RCV001113549] Chr13:77001923 [GRCh38]
Chr13:77576058 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 copy number loss See cases [RCV000598789] Chr13:74459395..93481294 [GRCh37]
Chr13:13q22.1-31.3		 pathogenic
NM_006493.4(CLN5):c.133_134del (p.Ser45fs) microsatellite Neuronal ceroid lipofuscinosis 5 [RCV000409209] Chr13:76992229..76992230 [GRCh38]
Chr13:77566364..77566365 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.424G>C (p.Gly142Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001275303]|Neuronal ceroid lipofuscinosis [RCV000686723]|not specified [RCV000414655] Chr13:76995986 [GRCh38]
Chr13:77570121 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.340-1del deletion Neuronal ceroid lipofuscinosis 5 [RCV000409719] Chr13:76995901 [GRCh38]
Chr13:77570036 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.155_167del (p.His52fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000410399]|Neuronal ceroid lipofuscinosis [RCV003114526] Chr13:76992250..76992262 [GRCh38]
Chr13:77566385..77566397 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs) indel Neuronal ceroid lipofuscinosis 5 [RCV000410812] Chr13:76992171..76992172 [GRCh38]
Chr13:77566306..77566307 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.505G>A (p.Gly169Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000557447] Chr13:76996067 [GRCh38]
Chr13:77570202 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000411598] Chr13:77000850 [GRCh38]
Chr13:77574985 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000412162]|Neuronal ceroid lipofuscinosis [RCV001850973] Chr13:77000685 [GRCh38]
Chr13:77574820 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.731A>G (p.Glu244Gly) single nucleotide variant not specified [RCV000412774] Chr13:77000623 [GRCh38]
Chr13:77574758 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q22.3-31.1(chr13:77455170-81099829)x1 copy number loss See cases [RCV000447604] Chr13:77455170..81099829 [GRCh37]
Chr13:13q22.3-31.1		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
NM_006493.4(CLN5):c.565+20C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002525358]|not specified [RCV000427249] Chr13:76996147 [GRCh38]
Chr13:77570282 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+16C>A single nucleotide variant not specified [RCV000434330] Chr13:76992287 [GRCh38]
Chr13:77566422 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.-11G>C single nucleotide variant not specified [RCV000431742] Chr13:76991941 [GRCh38]
Chr13:77566076 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.21G>C (p.Thr7=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001865339]|not specified [RCV000435035] Chr13:76992119 [GRCh38]
Chr13:77566254 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+14C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002061358]|not specified [RCV000418325] Chr13:76992285 [GRCh38]
Chr13:77566420 [GRCh37]
Chr13:13q22.3		 benign|likely benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_006493.2(CLN5):c.54A>G (p.Gln18=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000937033]|not specified [RCV000435989] Chr13:76992005 [GRCh38]
Chr13:77566140 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
NM_006493.2(CLN5):c.57C>A (p.Gly19=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001464558]|not provided [RCV001704375] Chr13:76992008 [GRCh38]
Chr13:77566143 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.565+20C>G single nucleotide variant not specified [RCV000420109] Chr13:76996147 [GRCh38]
Chr13:77570282 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.687C>T (p.Tyr229=) single nucleotide variant Inborn genetic diseases [RCV002314136]|Neuronal ceroid lipofuscinosis [RCV001450178]|not specified [RCV000423019] Chr13:77000579 [GRCh38]
Chr13:77574714 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.417C>T (p.Phe139=) single nucleotide variant Inborn genetic diseases [RCV002348146]|Neuronal ceroid lipofuscinosis [RCV001460338]|not specified [RCV000430298] Chr13:76995979 [GRCh38]
Chr13:77570114 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+9G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002524818]|not specified [RCV000420495] Chr13:76992280 [GRCh38]
Chr13:77566415 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.21G>A (p.Thr7=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002521748]|not specified [RCV000427108] Chr13:76992119 [GRCh38]
Chr13:77566254 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1 copy number loss See cases [RCV000448053] Chr13:72174742..82221361 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1 copy number loss See cases [RCV000448229] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
NM_006493.4(CLN5):c.-83G>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001275301]|Neuronal ceroid lipofuscinosis [RCV000472414] Chr13:76992016 [GRCh38]
Chr13:77566151 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.339+6G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000475498] Chr13:76995234 [GRCh38]
Chr13:77569369 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.52C>T (p.Gln18Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001785627]|Neuronal ceroid lipofuscinosis [RCV000798755]|not provided [RCV000483404] Chr13:76992003 [GRCh38]
Chr13:77566138 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-47C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000461147] Chr13:76992052 [GRCh38]
Chr13:77566187 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.869G>T (p.Arg290Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001785630]|Neuronal ceroid lipofuscinosis [RCV000814083]|not provided [RCV000483654] Chr13:77000761 [GRCh38]
Chr13:77574896 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu) single nucleotide variant Inborn genetic diseases [RCV002523317]|Neuronal ceroid lipofuscinosis 5 [RCV001785619]|Neuronal ceroid lipofuscinosis [RCV000469030]|not provided [RCV000479788] Chr13:77000796 [GRCh38]
Chr13:77574931 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.773G>A (p.Arg258Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001834569]|not provided [RCV000485873] Chr13:77000665 [GRCh38]
Chr13:77574800 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.661G>C (p.Gly221Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001785626]|Neuronal ceroid lipofuscinosis [RCV000808669]|not provided [RCV000481649] Chr13:77000553 [GRCh38]
Chr13:77574688 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.50G>C (p.Gly17Ala) single nucleotide variant Inborn genetic diseases [RCV002341140]|not provided [RCV000485941] Chr13:76992001 [GRCh38]
Chr13:77566136 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.31G>T (p.Ala11Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272139]|Neuronal ceroid lipofuscinosis [RCV000688642]|not provided [RCV000482274] Chr13:76992129 [GRCh38]
Chr13:77566264 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.544G>A (p.Val182Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001834565]|not provided [RCV000478503] Chr13:76996106 [GRCh38]
Chr13:77570241 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.13G>A (p.Val5Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001828507]|not provided [RCV000487383] Chr13:76992111 [GRCh38]
Chr13:77566246 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.656A>C (p.Glu219Ala) single nucleotide variant Inborn genetic diseases [RCV002318527]|Neuronal ceroid lipofuscinosis 5 [RCV001280032]|Neuronal ceroid lipofuscinosis [RCV000459548]|not provided [RCV000498752] Chr13:77000548 [GRCh38]
Chr13:77574683 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.19A>G (p.Thr7Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000461315] Chr13:76992117 [GRCh38]
Chr13:77566252 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.566-8dup duplication Neuronal ceroid lipofuscinosis [RCV002063762]|not specified [RCV000478858] Chr13:77000443..77000444 [GRCh38]
Chr13:77574578..77574579 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV000501228] Chr13:76996071..76996072 [GRCh38]
Chr13:77570206..77570207 [GRCh37]
Chr13:13q22.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
NM_006493.4(CLN5):c.142C>A (p.Pro48Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001829409]|not provided [RCV000494519] Chr13:76992240 [GRCh38]
Chr13:77566375 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_006493.4(CLN5):c.-123C>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001275299]|Neuronal ceroid lipofuscinosis [RCV000694760] Chr13:76991976 [GRCh38]
Chr13:77566111 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.77G>A (p.Trp26Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000668838] Chr13:76992175 [GRCh38]
Chr13:77566310 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) deletion Neuronal ceroid lipofuscinosis 5 [RCV000669036] Chr13:76996113..76996121 [GRCh38]
Chr13:77570248..77570256 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.565+3_565+4dup duplication Inborn genetic diseases [RCV002528311]|Neuronal ceroid lipofuscinosis [RCV000535334]|not provided [RCV001618723] Chr13:76996129..76996130 [GRCh38]
Chr13:77570264..77570265 [GRCh37]
Chr13:13q22.3		 benign|uncertain significance
NM_006493.4(CLN5):c.112_113insATCCGGGCTGG (p.Val38fs) insertion Neuronal ceroid lipofuscinosis [RCV000632674] Chr13:76992207..76992208 [GRCh38]
Chr13:77566342..77566343 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.574T>G (p.Phe192Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632697] Chr13:77000466 [GRCh38]
Chr13:77574601 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.224C>T (p.Thr75Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632717] Chr13:76995113 [GRCh38]
Chr13:77569248 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.114T>C (p.Val38=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632723] Chr13:76992212 [GRCh38]
Chr13:77566347 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.-74T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632682]|not provided [RCV002473078] Chr13:76992025 [GRCh38]
Chr13:77566160 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1062A>T (p.Thr354=) single nucleotide variant not specified [RCV000609571] Chr13:77000954 [GRCh38]
Chr13:77575089 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.339+11A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002062881]|not specified [RCV000612441] Chr13:76995239 [GRCh38]
Chr13:77569374 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.-8G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001109121]|not specified [RCV000612639] Chr13:76991944 [GRCh38]
Chr13:77566079 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.120C>T (p.Gly40=) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001729651]|Neuronal ceroid lipofuscinosis [RCV001348650]|not specified [RCV000613569] Chr13:76992218 [GRCh38]
Chr13:77566353 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.129G>A (p.Arg43=) single nucleotide variant Inborn genetic diseases [RCV002438567]|Neuronal ceroid lipofuscinosis [RCV002063131]|not specified [RCV000613747] Chr13:76992227 [GRCh38]
Chr13:77566362 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000625737]|Neuronal ceroid lipofuscinosis [RCV001868156]|not provided [RCV000627363] Chr13:77000567 [GRCh38]
Chr13:77574702 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.173+12G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002063301]|not specified [RCV000614594] Chr13:76992283 [GRCh38]
Chr13:77566418 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) duplication Neuronal ceroid lipofuscinosis 5 [RCV000672283] Chr13:76992124..76992125 [GRCh38]
Chr13:77566259..77566260 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.117G>C (p.Ser39=) single nucleotide variant Inborn genetic diseases [RCV002341558]|Neuronal ceroid lipofuscinosis [RCV001418297]|not provided [RCV000869791] Chr13:76992068 [GRCh38]
Chr13:77566203 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1074A>T (p.Leu358Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632683] Chr13:77000966 [GRCh38]
Chr13:77575101 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.187del (p.Arg63fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV001729667]|Neuronal ceroid lipofuscinosis [RCV000632695] Chr13:76995075 [GRCh38]
Chr13:77569210 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.116C>T (p.Pro39Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632707] Chr13:76992214 [GRCh38]
Chr13:77566349 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.500T>C (p.Phe167Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632713] Chr13:76996062 [GRCh38]
Chr13:77570197 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.654A>C (p.Pro218=) single nucleotide variant Inborn genetic diseases [RCV002317382]|Neuronal ceroid lipofuscinosis [RCV001397885]|not provided [RCV000632736] Chr13:77000546 [GRCh38]
Chr13:77574681 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1		 pathogenic
NM_006493.2(CLN5):c.24G>A (p.Gly8=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002064278]|not specified [RCV000607015] Chr13:76991975 [GRCh38]
Chr13:77566110 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.920G>A (p.Ser307Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001280034]|not provided [RCV000658319] Chr13:77000812 [GRCh38]
Chr13:77574947 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.566_*1548del (p.Gly189fs) deletion Neuronal ceroid lipofuscinosis [RCV000700461] Chr13:77000458..77002517 [GRCh38]
Chr13:77574593..77576652 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.486C>T (p.Gly162=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000704205] Chr13:76996048 [GRCh38]
Chr13:77570183 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.119del (p.Gly40fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000672485] Chr13:76992215 [GRCh38]
Chr13:77566350 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV000673636] Chr13:77000939..77000940 [GRCh38]
Chr13:77575074..77575075 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.565+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000670302] Chr13:76996128 [GRCh38]
Chr13:77570263 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000671450]|Neuronal ceroid lipofuscinosis [RCV001861806] Chr13:77000729..77000732 [GRCh38]
Chr13:77574864..77574867 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV000667852] Chr13:77000925..77000926 [GRCh38]
Chr13:77575060..77575061 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000667867]|Neuronal ceroid lipofuscinosis [RCV001855490] Chr13:77000605..77000612 [GRCh38]
Chr13:77574740..77574747 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.639T>A (p.Asn213Lys) single nucleotide variant Inborn genetic diseases [RCV002406554]|Neuronal ceroid lipofuscinosis [RCV000690486] Chr13:77000531 [GRCh38]
Chr13:77574666 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.1A>G (p.Met1Val) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000668577] Chr13:76991952 [GRCh38]
Chr13:77566087 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.906del (p.Glu303fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000672807] Chr13:77000796 [GRCh38]
Chr13:77574931 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) deletion Neuronal ceroid lipofuscinosis 5 [RCV000674729]|Neuronal ceroid lipofuscinosis [RCV002544673] Chr13:77000808 [GRCh38]
Chr13:77574943 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.-7C>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000667197] Chr13:76992092 [GRCh38]
Chr13:77566227 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.18del (p.Asp6fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000664744] Chr13:76992116 [GRCh38]
Chr13:77566251 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) single nucleotide variant Inborn genetic diseases [RCV002422455]|Neuronal ceroid lipofuscinosis 5 [RCV000670614]|Neuronal ceroid lipofuscinosis [RCV001438116] Chr13:76991952 [GRCh38]
Chr13:77566087 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.565+2dup duplication Neuronal ceroid lipofuscinosis 5 [RCV000671245] Chr13:76996128..76996129 [GRCh38]
Chr13:77570263..77570264 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.304T>G (p.Trp102Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000699621] Chr13:76995193 [GRCh38]
Chr13:77569328 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-113G>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001249271]|Neuronal ceroid lipofuscinosis [RCV000699946] Chr13:76991986 [GRCh38]
Chr13:77566121 [GRCh37]
Chr13:13q22.3		 uncertain significance|not provided
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) single nucleotide variant Inborn genetic diseases [RCV002424701]|Neuronal ceroid lipofuscinosis 5 [RCV001275305]|Neuronal ceroid lipofuscinosis [RCV000704165]|not provided [RCV001585653] Chr13:77000827 [GRCh38]
Chr13:77574962 [GRCh37]
Chr13:13q22.3		 benign|uncertain significance
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV000675014] Chr13:77000556..77000557 [GRCh38]
Chr13:77574691..77574692 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.438del (p.His148fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000674313]|Neuronal ceroid lipofuscinosis [RCV001049322] Chr13:76995998 [GRCh38]
Chr13:77570133 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.705_706del (p.Leu236fs) microsatellite Neuronal ceroid lipofuscinosis 5 [RCV000674631]|Neuronal ceroid lipofuscinosis [RCV001861846] Chr13:77000594..77000595 [GRCh38]
Chr13:77574729..77574730 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.191del (p.Pro64fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000674770] Chr13:76995079 [GRCh38]
Chr13:77569214 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.995del (p.Leu332fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV000668417] Chr13:77000883 [GRCh38]
Chr13:77575018 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.173+30G>A single nucleotide variant not provided [RCV000675519] Chr13:76992301 [GRCh38]
Chr13:77566436 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1 copy number loss not provided [RCV000683568] Chr13:76942604..90660121 [GRCh37]
Chr13:13q22.2-31.3		 pathogenic
NM_006493.4(CLN5):c.550G>A (p.Val184Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000686101] Chr13:76996112 [GRCh38]
Chr13:77570247 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.490G>T (p.Ala164Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272147]|Neuronal ceroid lipofuscinosis [RCV000685999] Chr13:76996052 [GRCh38]
Chr13:77570187 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
NM_006493.4(CLN5):c.93G>A (p.Ala31=) single nucleotide variant Inborn genetic diseases [RCV002314393]|Neuronal ceroid lipofuscinosis [RCV000927062] Chr13:76992191 [GRCh38]
Chr13:77566326 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.596T>C (p.Val199Ala) single nucleotide variant Inborn genetic diseases [RCV002318292] Chr13:77000488 [GRCh38]
Chr13:77574623 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 copy number loss not provided [RCV000750731] Chr13:57058434..94684615 [GRCh37]
Chr13:13q21.1-31.3		 pathogenic
NM_006493.4(CLN5):c.431G>A (p.Cys144Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000761545] Chr13:76995993 [GRCh38]
Chr13:77570128 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.637A>C (p.Asn213His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002573240]|not provided [RCV001577682] Chr13:77000529 [GRCh38]
Chr13:77574664 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.566-55dup duplication not provided [RCV001724894] Chr13:77000383..77000384 [GRCh38]
Chr13:77574518..77574519 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.489T>C (p.Ala163=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001489294]|not provided [RCV000945192] Chr13:76996051 [GRCh38]
Chr13:77570186 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) single nucleotide variant Inborn genetic diseases [RCV002332798]|Neuronal ceroid lipofuscinosis 5 [RCV001114863]|Neuronal ceroid lipofuscinosis [RCV000867013] Chr13:77000918 [GRCh38]
Chr13:77575053 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.-109T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001463519]|not provided [RCV000904506] Chr13:76991990 [GRCh38]
Chr13:77566125 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.615A>G (p.Thr205=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000868018] Chr13:77000507 [GRCh38]
Chr13:77574642 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.984A>G (p.Glu328=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001496759]|not provided [RCV000976731] Chr13:77000876 [GRCh38]
Chr13:77575011 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.207T>C (p.Tyr69=) single nucleotide variant Inborn genetic diseases [RCV002453961]|Neuronal ceroid lipofuscinosis [RCV001434426]|not provided [RCV000866113] Chr13:76995096 [GRCh38]
Chr13:77569231 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.51G>C (p.Gly17=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000867406] Chr13:76992002 [GRCh38]
Chr13:77566137 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.296C>T (p.Ala99Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001060053] Chr13:76995185 [GRCh38]
Chr13:77569320 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.902C>A (p.Thr301Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001060411] Chr13:77000794 [GRCh38]
Chr13:77574929 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.965_968del (p.Tyr322fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV001336970]|Neuronal ceroid lipofuscinosis [RCV001064628] Chr13:77000856..77000859 [GRCh38]
Chr13:77574991..77574994 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer) deletion Neuronal ceroid lipofuscinosis 5 [RCV000790375] Chr13:77000483..77000486 [GRCh38]
Chr13:77574618..77574621 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.339+309T>C single nucleotide variant not provided [RCV000827777] Chr13:76995537 [GRCh38]
Chr13:77569672 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.27G>A (p.Gln9=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000861478] Chr13:76992125 [GRCh38]
Chr13:77566260 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.447C>T (p.Leu149=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001437580]|not provided [RCV000866757] Chr13:76996009 [GRCh38]
Chr13:77570144 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.-103G>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001275300]|Neuronal ceroid lipofuscinosis [RCV001443017]|not provided [RCV000873474] Chr13:76991996 [GRCh38]
Chr13:77566131 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_006493.2(CLN5):c.17G>T (p.Arg6Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000819120] Chr13:76991968 [GRCh38]
Chr13:77566103 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.173+166G>A single nucleotide variant not provided [RCV000839629] Chr13:76992437 [GRCh38]
Chr13:77566572 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.-84C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000797117] Chr13:76992015 [GRCh38]
Chr13:77566150 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-78G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000797118] Chr13:76992021 [GRCh38]
Chr13:77566156 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4:c.679C>T single nucleotide variant Neurodevelopmental disorder [RCV000787431] Chr13:13q22.3 pathogenic
NM_006493.4(CLN5):c.176G>A (p.Arg59His) single nucleotide variant Inborn genetic diseases [RCV002537054]|Neuronal ceroid lipofuscinosis 5 [RCV001272142]|Neuronal ceroid lipofuscinosis [RCV000797759] Chr13:76995065 [GRCh38]
Chr13:77569200 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000791202] Chr13:76995097 [GRCh38]
Chr13:77569232 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.702T>G (p.Phe234Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000805601] Chr13:77000594 [GRCh38]
Chr13:77574729 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.1(CLN5):c.-115G= single nucleotide variant not provided [RCV000829888] Chr13:76991837 [GRCh38]
Chr13:77565972 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.1048A>G (p.Ile350Val) single nucleotide variant Inborn genetic diseases [RCV002537470]|Neuronal ceroid lipofuscinosis 5 [RCV001275306]|Neuronal ceroid lipofuscinosis [RCV000820427]|not provided [RCV001546138] Chr13:77000940 [GRCh38]
Chr13:77575075 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.565+15T>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002067441]|not provided [RCV000827250] Chr13:76996142 [GRCh38]
Chr13:77570277 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.960G>C (p.Gln320His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000799157] Chr13:77000852 [GRCh38]
Chr13:77574987 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000784980]|Neuronal ceroid lipofuscinosis [RCV000801114] Chr13:76995960 [GRCh38]
Chr13:77570095 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_006493.4(CLN5):c.565+90T>A single nucleotide variant not provided [RCV000829789] Chr13:76996217 [GRCh38]
Chr13:77570352 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.864A>G (p.Ile288Met) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001114861] Chr13:77000756 [GRCh38]
Chr13:77574891 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.565+262C>A single nucleotide variant not provided [RCV000828925] Chr13:76996389 [GRCh38]
Chr13:77570524 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.675G>C (p.Trp225Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000812653] Chr13:77000567 [GRCh38]
Chr13:77574702 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.566-147G>A single nucleotide variant not provided [RCV000837172] Chr13:77000311 [GRCh38]
Chr13:77574446 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.430T>C (p.Cys144Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272145]|Neuronal ceroid lipofuscinosis [RCV000819484] Chr13:76995992 [GRCh38]
Chr13:77570127 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.(?_76991932)_(77000989_?)del deletion Neuronal ceroid lipofuscinosis [RCV000804610] Chr13:76991932..77000989 [GRCh38]
Chr13:77566067..77575124 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.773G>T (p.Arg258Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001114858]|Neuronal ceroid lipofuscinosis [RCV002556251] Chr13:77000665 [GRCh38]
Chr13:77574800 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-3C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001457335]|not provided [RCV000915084] Chr13:76992096 [GRCh38]
Chr13:77566231 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3		 pathogenic
NM_006493.4(CLN5):c.449G>A (p.Arg150Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001963869] Chr13:76996011 [GRCh38]
Chr13:77570146 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.755T>C (p.Ile252Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001206726] Chr13:77000647 [GRCh38]
Chr13:77574782 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-11G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001212023] Chr13:76992088 [GRCh38]
Chr13:77566223 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.92C>A (p.Ala31Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001213414] Chr13:76992190 [GRCh38]
Chr13:77566325 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*833C>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001113548] Chr13:77001802 [GRCh38]
Chr13:77575937 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*1159G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001113553] Chr13:77002128 [GRCh38]
Chr13:77576263 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.420A>G (p.Gln140=) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV002491605]|Neuronal ceroid lipofuscinosis [RCV001202432] Chr13:76995982 [GRCh38]
Chr13:77570117 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.174-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001194250] Chr13:76995061 [GRCh38]
Chr13:77569196 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.844_845dup (p.Thr283fs) duplication Neuronal ceroid lipofuscinosis [RCV001222281] Chr13:77000735..77000736 [GRCh38]
Chr13:77574870..77574871 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.162G>A (p.Pro54=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001241333] Chr13:76992260 [GRCh38]
Chr13:77566395 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.947T>C (p.Ile316Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001239670] Chr13:77000839 [GRCh38]
Chr13:77574974 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.838G>T (p.Gly280Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001729819]|Neuronal ceroid lipofuscinosis [RCV001243960] Chr13:77000730 [GRCh38]
Chr13:77574865 [GRCh37]
Chr13:13q22.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NM_006493.4(CLN5):c.806T>G (p.Leu269Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001114859] Chr13:77000698 [GRCh38]
Chr13:77574833 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.336C>G (p.His112Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001237972] Chr13:76995225 [GRCh38]
Chr13:77569360 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-8G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001111456] Chr13:76992091 [GRCh38]
Chr13:77566226 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*468G>C single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001111552] Chr13:77001437 [GRCh38]
Chr13:77575572 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*636A>G single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001111555] Chr13:77001605 [GRCh38]
Chr13:77575740 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-96C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001236360]|not provided [RCV001773535] Chr13:76992003 [GRCh38]
Chr13:77566138 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.78G>T (p.Trp26Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001241884] Chr13:76992176 [GRCh38]
Chr13:77566311 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.25C>A (p.Pro9Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003104898] Chr13:76991976 [GRCh38]
Chr13:77566111 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.460G>C (p.Asp154His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003106874] Chr13:76996022 [GRCh38]
Chr13:77570157 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1A>T (p.Met1Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001827509]|not provided [RCV001576912] Chr13:76992099 [GRCh38]
Chr13:77566234 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.340-248T>C single nucleotide variant not provided [RCV001552094] Chr13:76995654 [GRCh38]
Chr13:77569789 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.566-56_566-55dup duplication not provided [RCV001561032] Chr13:77000383..77000384 [GRCh38]
Chr13:77574518..77574519 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.340-136G>A single nucleotide variant not provided [RCV001598893] Chr13:76995766 [GRCh38]
Chr13:77569901 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.173+213G>A single nucleotide variant not provided [RCV001717494] Chr13:76992484 [GRCh38]
Chr13:77566619 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.287G>A (p.Arg96Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV002488427]|Neuronal ceroid lipofuscinosis [RCV001832817]|not provided [RCV001593828] Chr13:76995176 [GRCh38]
Chr13:77569311 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.566-55del deletion not provided [RCV001691548] Chr13:77000384 [GRCh38]
Chr13:77574519 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.174-284C>A single nucleotide variant not provided [RCV001575630] Chr13:76994779 [GRCh38]
Chr13:77568914 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.465C>T (p.Ala155=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000979823] Chr13:76996027 [GRCh38]
Chr13:77570162 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1065C>A (p.Leu355=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001414501]|not provided [RCV000932759] Chr13:77000957 [GRCh38]
Chr13:77575092 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.111G>A (p.Gln37=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000978799] Chr13:76992062 [GRCh38]
Chr13:77566197 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.534T>C (p.Asn178=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000981277] Chr13:76996096 [GRCh38]
Chr13:77570231 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.435A>G (p.Thr145=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000921702] Chr13:76995997 [GRCh38]
Chr13:77570132 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.627T>C (p.Tyr209=) single nucleotide variant Inborn genetic diseases [RCV002409096]|Neuronal ceroid lipofuscinosis [RCV002064731]|not provided [RCV000873463] Chr13:77000519 [GRCh38]
Chr13:77574654 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.-94A>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001272137]|Neuronal ceroid lipofuscinosis [RCV001036174] Chr13:76992005 [GRCh38]
Chr13:77566140 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*1490A>G single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001114958] Chr13:77002459 [GRCh38]
Chr13:77576594 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.903T>C (p.Thr301=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001454667]|not provided [RCV000912714] Chr13:77000795 [GRCh38]
Chr13:77574930 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+198G>T single nucleotide variant not provided [RCV001562256] Chr13:76992469 [GRCh38]
Chr13:77566604 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+238C>T single nucleotide variant not provided [RCV001615582] Chr13:76992509 [GRCh38]
Chr13:77566644 [GRCh37]
Chr13:13q22.3		 benign
GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1 copy number loss not provided [RCV001006577] Chr13:71502357..86571730 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
NM_006493.4(CLN5):c.566-321A>C single nucleotide variant not provided [RCV001619144] Chr13:77000137 [GRCh38]
Chr13:77574272 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.*263A>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001111548] Chr13:77001232 [GRCh38]
Chr13:77575367 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*269G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001111549]|not provided [RCV001545978] Chr13:77001238 [GRCh38]
Chr13:77575373 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.*609A>G single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001111553] Chr13:77001578 [GRCh38]
Chr13:77575713 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*614C>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001111554] Chr13:77001583 [GRCh38]
Chr13:77575718 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.173+1G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001036090] Chr13:76992272 [GRCh38]
Chr13:77566407 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.2(CLN5):c.53A>G (p.Gln18Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001048474] Chr13:76992004 [GRCh38]
Chr13:77566139 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.133T>C (p.Ser45Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001113460] Chr13:76992231 [GRCh38]
Chr13:77566366 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-97del deletion Inborn genetic diseases [RCV002337060]|Neuronal ceroid lipofuscinosis 5 [RCV001004594]|Neuronal ceroid lipofuscinosis [RCV001240296]|not provided [RCV001200389] Chr13:76991999 [GRCh38]
Chr13:77566134 [GRCh37]
Chr13:13q22.3		 pathogenic|uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
NM_006493.4(CLN5):c.692G>A (p.Cys231Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001046654] Chr13:77000584 [GRCh38]
Chr13:77574719 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.566-97G>A single nucleotide variant not provided [RCV001641007] Chr13:77000361 [GRCh38]
Chr13:77574496 [GRCh37]
Chr13:13q22.3		 benign
NM_006493.4(CLN5):c.*975G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001113551] Chr13:77001944 [GRCh38]
Chr13:77576079 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.340-185C>G single nucleotide variant not provided [RCV001650775] Chr13:76995717 [GRCh38]
Chr13:77569852 [GRCh37]
Chr13:13q22.3		 benign
NC_000013.11:g.(?_76991932)_(77000989_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032972] Chr13:77566067..77575124 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*963T>G single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001113550] Chr13:77001932 [GRCh38]
Chr13:77576067 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.467C>T (p.Pro156Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001207364] Chr13:76996029 [GRCh38]
Chr13:77570164 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.112del (p.Val38fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV001729815]|Neuronal ceroid lipofuscinosis [RCV001217019] Chr13:76992209 [GRCh38]
Chr13:77566344 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.572T>C (p.Met191Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001113465]|Neuronal ceroid lipofuscinosis [RCV001368365] Chr13:77000464 [GRCh38]
Chr13:77574599 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.173+5G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001726454]|Neuronal ceroid lipofuscinosis [RCV001224988] Chr13:76992276 [GRCh38]
Chr13:77566411 [GRCh37]
Chr13:13q22.3		 likely pathogenic|uncertain significance
NM_006493.4(CLN5):c.-99G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001238736] Chr13:76992000 [GRCh38]
Chr13:77566135 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.323A>C (p.Asp108Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001244760] Chr13:76995212 [GRCh38]
Chr13:77569347 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.358A>G (p.Ile120Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001241255] Chr13:76995920 [GRCh38]
Chr13:77570055 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.442C>T (p.His148Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001245677] Chr13:76996004 [GRCh38]
Chr13:77570139 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.50G>A (p.Gly17Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001059306] Chr13:76992001 [GRCh38]
Chr13:77566136 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.148C>T (p.Arg50Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001246493] Chr13:76992246 [GRCh38]
Chr13:77566381 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.*163G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001109218] Chr13:77001132 [GRCh38]
Chr13:77575267 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.83G>A (p.Trp28Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001729791]|Neuronal ceroid lipofuscinosis [RCV001070707] Chr13:76992181 [GRCh38]
Chr13:77566316 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.11:g.(?_76995053)_(76995238_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001033119] Chr13:77569188..77569373 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NC_000013.11:g.(?_76995053)_(76996137_?)del deletion Neuronal ceroid lipofuscinosis [RCV001033776] Chr13:77569188..77570272 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.-75C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001221133] Chr13:76992024 [GRCh38]
Chr13:77566159 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.587C>T (p.Ala196Val) single nucleotide variant Intellectual disability [RCV001251943]|Neuronal ceroid lipofuscinosis [RCV001879837] Chr13:77000479 [GRCh38]
Chr13:77574614 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.757G>C (p.Glu253Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001303897] Chr13:77000649 [GRCh38]
Chr13:77574784 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-23C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001341580] Chr13:76992076 [GRCh38]
Chr13:77566211 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566117T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001308032] Chr13:76991982 [GRCh38]
Chr13:77566117 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.247A>G (p.Ile83Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001326340] Chr13:76995136 [GRCh38]
Chr13:77569271 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.366C>T (p.Phe122=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001397346] Chr13:76995928 [GRCh38]
Chr13:77570063 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.270T>A (p.Asp90Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001350472] Chr13:76995159 [GRCh38]
Chr13:77569294 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.867A>G (p.Lys289=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001423023] Chr13:77000759 [GRCh38]
Chr13:77574894 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566166C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001374288] Chr13:76992031 [GRCh38]
Chr13:77566166 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-10G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001433029] Chr13:76992089 [GRCh38]
Chr13:77566224 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.(?_77574632)_77577161del deletion Neuronal ceroid lipofuscinosis [RCV001382635]   pathogenic
NM_006493.4(CLN5):c.-86C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001368650] Chr13:76992013 [GRCh38]
Chr13:77566148 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.26A>G (p.Gln9Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001373546] Chr13:76992124 [GRCh38]
Chr13:77566259 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.151C>A (p.Arg51Ser) single nucleotide variant Inborn genetic diseases [RCV002543240]|Neuronal ceroid lipofuscinosis [RCV001308570] Chr13:76992249 [GRCh38]
Chr13:77566384 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.175C>A (p.Arg59Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001362705] Chr13:76995064 [GRCh38]
Chr13:77569199 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.38T>C (p.Met13Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001369247] Chr13:76992136 [GRCh38]
Chr13:77566271 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.229T>A (p.Cys77Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001307415] Chr13:76995118 [GRCh38]
Chr13:77569253 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.339G>C (p.Leu113Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001327392] Chr13:76995228 [GRCh38]
Chr13:77569363 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.784T>C (p.Tyr262His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001298054] Chr13:77000676 [GRCh38]
Chr13:77574811 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-98G>T single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001280029] Chr13:76992001 [GRCh38]
Chr13:77566136 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.535G>T (p.Gly179Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001337190] Chr13:76996097 [GRCh38]
Chr13:77570232 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.955_956delinsCG (p.Lys319Arg) indel Neuronal ceroid lipofuscinosis [RCV001413204]|not provided [RCV001638088] Chr13:77000847..77000848 [GRCh38]
Chr13:77574982..77574983 [GRCh37]
Chr13:13q22.3		 benign|likely benign
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_006493.4(CLN5):c.963C>T (p.Phe321=) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001277533]|Neuronal ceroid lipofuscinosis [RCV001479893] Chr13:77000855 [GRCh38]
Chr13:77574990 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.77G>C (p.Trp26Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001280030]|Neuronal ceroid lipofuscinosis [RCV001871589]|not provided [RCV001556431] Chr13:76992175 [GRCh38]
Chr13:77566310 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_006493.4(CLN5):c.764A>C (p.Asn255Thr) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001280033]|Neuronal ceroid lipofuscinosis [RCV002541727]|not provided [RCV002269357] Chr13:77000656 [GRCh38]
Chr13:77574791 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.189T>C (p.Arg63=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001413674] Chr13:76995078 [GRCh38]
Chr13:77569213 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.925T>C (p.Leu309=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001454567] Chr13:77000817 [GRCh38]
Chr13:77574952 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.724T>C (p.Leu242=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001484313] Chr13:77000616 [GRCh38]
Chr13:77574751 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.24A>G (p.Ala8=) single nucleotide variant Inborn genetic diseases [RCV002405141]|Neuronal ceroid lipofuscinosis [RCV001484323] Chr13:76992122 [GRCh38]
Chr13:77566257 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+9G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001484373] Chr13:76992280 [GRCh38]
Chr13:77566415 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.762C>G (p.Thr254=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001399810] Chr13:77000654 [GRCh38]
Chr13:77574789 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.63G>A (p.Arg21=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001492562] Chr13:76992161 [GRCh38]
Chr13:77566296 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.(?_77566087)_(78492734_?)del deletion Neuronal ceroid lipofuscinosis [RCV001387711]|not provided [RCV003120596] Chr13:77566087..78492734 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.77566182C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001483234] Chr13:76992047 [GRCh38]
Chr13:77566182 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.462T>C (p.Asp154=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001468282] Chr13:76996024 [GRCh38]
Chr13:77570159 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.141C>A (p.Ile47=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001470309] Chr13:76992239 [GRCh38]
Chr13:77566374 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.827_828del (p.Phe276fs) deletion Neuronal ceroid lipofuscinosis [RCV001383792] Chr13:77000716..77000717 [GRCh38]
Chr13:77574851..77574852 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.270T>C (p.Asp90=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001488161] Chr13:76995159 [GRCh38]
Chr13:77569294 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.177C>T (p.Arg59=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001488559] Chr13:76995066 [GRCh38]
Chr13:77569201 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.978T>C (p.Asn326=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001497697] Chr13:77000870 [GRCh38]
Chr13:77575005 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.63G>C (p.Arg21=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001471499] Chr13:76992161 [GRCh38]
Chr13:77566296 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.580C>T (p.Gln194Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001729913]|Neuronal ceroid lipofuscinosis [RCV001389234] Chr13:77000472 [GRCh38]
Chr13:77574607 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.204T>G (p.Pro68=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001419944] Chr13:76995093 [GRCh38]
Chr13:77569228 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.207_213del (p.Pro68_Tyr69insTer) deletion Neuronal ceroid lipofuscinosis [RCV001389542] Chr13:76995095..76995101 [GRCh38]
Chr13:77569230..77569236 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.951G>A (p.Val317=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001410121] Chr13:77000843 [GRCh38]
Chr13:77574978 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.333A>T (p.Gly111=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001397768] Chr13:76995222 [GRCh38]
Chr13:77569357 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.336C>T (p.His112=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001405283] Chr13:76995225 [GRCh38]
Chr13:77569360 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.93G>T (p.Ala31=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001431193] Chr13:76992191 [GRCh38]
Chr13:77566326 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.812del (p.Asn271fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV001729912]|Neuronal ceroid lipofuscinosis [RCV001386240] Chr13:77000702 [GRCh38]
Chr13:77574837 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.804T>C (p.Tyr268=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001436409] Chr13:77000696 [GRCh38]
Chr13:77574831 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566128C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001440230] Chr13:76991993 [GRCh38]
Chr13:77566128 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+7G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001444888] Chr13:76992278 [GRCh38]
Chr13:77566413 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.555A>G (p.Ala185=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001434687] Chr13:76996117 [GRCh38]
Chr13:77570252 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566203G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001434764] Chr13:76992068 [GRCh38]
Chr13:77566203 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.84_96dup (p.Leu33fs) duplication Neuronal ceroid lipofuscinosis [RCV001381766] Chr13:76992177..76992178 [GRCh38]
Chr13:77566312..77566313 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.77566191G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001406153] Chr13:76992056 [GRCh38]
Chr13:77566191 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.861C>T (p.Ala287=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001404268] Chr13:77000753 [GRCh38]
Chr13:77574888 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.714C>G (p.Thr238=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001450539] Chr13:77000606 [GRCh38]
Chr13:77574741 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.606C>T (p.Asp202=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001486509] Chr13:77000498 [GRCh38]
Chr13:77574633 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.15A>G (p.Val5=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001455136] Chr13:76992113 [GRCh38]
Chr13:77566248 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.981del (p.Phe327fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV001580667] Chr13:77000870 [GRCh38]
Chr13:77575005 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.566-8T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001453550] Chr13:77000450 [GRCh38]
Chr13:77574585 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.174-3del deletion Neuronal ceroid lipofuscinosis [RCV001504459] Chr13:76995059 [GRCh38]
Chr13:77569194 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.69C>G (p.Arg23=) single nucleotide variant Inborn genetic diseases [RCV002432314]|Neuronal ceroid lipofuscinosis [RCV001468964] Chr13:76992167 [GRCh38]
Chr13:77566302 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.118G>C (p.Gly40Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002564215]|not provided [RCV001507829] Chr13:76992216 [GRCh38]
Chr13:77566351 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.990G>A (p.Trp330Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV001729909]|Neuronal ceroid lipofuscinosis [RCV001385483] Chr13:77000882 [GRCh38]
Chr13:77575017 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.77566155C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001476774] Chr13:76992020 [GRCh38]
Chr13:77566155 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1047T>A (p.Pro349=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001437022] Chr13:77000939 [GRCh38]
Chr13:77575074 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.96G>A (p.Leu32=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001441455] Chr13:76992194 [GRCh38]
Chr13:77566329 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566212C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001479479] Chr13:76992077 [GRCh38]
Chr13:77566212 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.528G>A (p.Lys176=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001430767] Chr13:76996090 [GRCh38]
Chr13:77570225 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.591G>A (p.Lys197=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001462316] Chr13:77000483 [GRCh38]
Chr13:77574618 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.33C>G (p.Ala11=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001502792] Chr13:76992131 [GRCh38]
Chr13:77566266 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1057A>G (p.Lys353Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003107279] Chr13:77000949 [GRCh38]
Chr13:77575084 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.472T>C (p.Trp158Arg) single nucleotide variant not provided [RCV001756344] Chr13:76996034 [GRCh38]
Chr13:77570169 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.594G>A (p.Trp198Ter) single nucleotide variant not provided [RCV002255219] Chr13:77000486 [GRCh38]
Chr13:77574621 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.559A>G (p.Ile187Val) single nucleotide variant not provided [RCV002280433] Chr13:76996121 [GRCh38]
Chr13:77570256 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.683C>T (p.Ser228Phe) single nucleotide variant not provided [RCV001774570] Chr13:77000575 [GRCh38]
Chr13:77574710 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.43C>T (p.Arg15Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001868627]|not provided [RCV001772920] Chr13:76992141 [GRCh38]
Chr13:77566276 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.14T>C (p.Leu5Pro) single nucleotide variant not provided [RCV001765158] Chr13:76991965 [GRCh38]
Chr13:77566100 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.409G>A (p.Glu137Lys) single nucleotide variant not specified [RCV001815118] Chr13:76995971 [GRCh38]
Chr13:77570106 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.416T>C (p.Phe139Ser) single nucleotide variant not provided [RCV001763136] Chr13:76995978 [GRCh38]
Chr13:77570113 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_006493.4(CLN5):c.298C>A (p.Pro100Thr) single nucleotide variant not specified [RCV001815117] Chr13:76995187 [GRCh38]
Chr13:77569322 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.174-1G>A single nucleotide variant Abnormality of metabolism/homeostasis [RCV001814483] Chr13:76995062 [GRCh38]
Chr13:77569197 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.248T>G (p.Ile83Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001863937] Chr13:76995137 [GRCh38]
Chr13:77569272 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.451C>T (p.Pro151Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002045803] Chr13:76996013 [GRCh38]
Chr13:77570148 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.215C>T (p.Ala72Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001864579] Chr13:76995104 [GRCh38]
Chr13:77569239 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.168del (p.Tyr57fs) deletion Neuronal ceroid lipofuscinosis [RCV001949633] Chr13:76992264 [GRCh38]
Chr13:77566399 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.77566202C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002025118] Chr13:76992067 [GRCh38]
Chr13:77566202 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
NM_006493.4(CLN5):c.279A>T (p.Glu93Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001929196] Chr13:76995168 [GRCh38]
Chr13:77569303 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566201T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001915127] Chr13:76992066 [GRCh38]
Chr13:77566201 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831) copy number loss not specified [RCV002053070] Chr13:75574661..87784831 [GRCh37]
Chr13:13q22.2-31.2		 pathogenic
NM_006493.4(CLN5):c.956_957del (p.Lys319fs) deletion Neuronal ceroid lipofuscinosis [RCV002007442] Chr13:77000847..77000848 [GRCh38]
Chr13:77574982..77574983 [GRCh37]
Chr13:13q22.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NM_006493.4(CLN5):c.107C>T (p.Ala36Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002006761] Chr13:76992205 [GRCh38]
Chr13:77566340 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.573G>A (p.Met191Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002022153] Chr13:77000465 [GRCh38]
Chr13:77574600 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.404G>A (p.Trp135Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001926582] Chr13:76995966 [GRCh38]
Chr13:77570101 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.48C>T (p.Gly16=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002039739] Chr13:76992146 [GRCh38]
Chr13:77566281 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.42C>G (p.Asp14Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001893232]|not provided [RCV002284498] Chr13:76991993 [GRCh38]
Chr13:77566128 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1051A>G (p.Arg351Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001891077] Chr13:77000943 [GRCh38]
Chr13:77575078 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566176_77566487del deletion Neuronal ceroid lipofuscinosis [RCV001968769] Chr13:76992041..76992352 [GRCh38]
Chr13:77566176..77566487 [GRCh37]
Chr13:13q22.3		 likely pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092) copy number loss not specified [RCV002053064] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
NM_006493.4(CLN5):c.913_914del (p.Leu305fs) deletion Neuronal ceroid lipofuscinosis [RCV001970142] Chr13:77000804..77000805 [GRCh38]
Chr13:77574939..77574940 [GRCh37]
Chr13:13q22.3		 pathogenic
GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1 copy number loss not provided [RCV001834426] Chr13:59574760..89410027 [GRCh37]
Chr13:13q21.1-31.2		 pathogenic
NC_000013.10:g.77566171C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001987051] Chr13:76992036 [GRCh38]
Chr13:77566171 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
NM_006493.4(CLN5):c.627T>G (p.Tyr209Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001914211] Chr13:77000519 [GRCh38]
Chr13:77574654 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.128G>A (p.Arg43Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002039502] Chr13:76992226 [GRCh38]
Chr13:77566361 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.3G>A (p.Met1Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001893616] Chr13:76992101 [GRCh38]
Chr13:77566236 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.395C>T (p.Thr132Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001969412] Chr13:76995957 [GRCh38]
Chr13:77570092 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
NM_006493.4(CLN5):c.464C>T (p.Ala155Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001947502] Chr13:76996026 [GRCh38]
Chr13:77570161 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_006493.4(CLN5):c.65G>A (p.Gly22Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001940437] Chr13:76992163 [GRCh38]
Chr13:77566298 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.150G>C (p.Arg50=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001938791] Chr13:76992248 [GRCh38]
Chr13:77566383 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566201T>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001944163] Chr13:76992066 [GRCh38]
Chr13:77566201 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.565+6T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001978999] Chr13:76996133 [GRCh38]
Chr13:77570268 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.982G>T (p.Glu328Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001963063] Chr13:77000874 [GRCh38]
Chr13:77575009 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.(?_77566087)_(77575104_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001981718] Chr13:77566087..77575104 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566095G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001958579] Chr13:76991960 [GRCh38]
Chr13:77566095 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.17A>G (p.Asp6Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001870199] Chr13:76992115 [GRCh38]
Chr13:77566250 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.251_252del (p.Pro84fs) deletion Neuronal ceroid lipofuscinosis [RCV002051530] Chr13:76995140..76995141 [GRCh38]
Chr13:77569275..77569276 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.679del (p.Asp227fs) deletion Neuronal ceroid lipofuscinosis [RCV001994504] Chr13:77000571 [GRCh38]
Chr13:77574706 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.77566160T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001934334] Chr13:76992025 [GRCh38]
Chr13:77566160 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.(?_77566087)_(78492734_?)dup duplication not provided [RCV001930270] Chr13:77566087..78492734 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566109G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001952452] Chr13:76991974 [GRCh38]
Chr13:77566109 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.936T>G (p.Phe312Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002048762] Chr13:77000828 [GRCh38]
Chr13:77574963 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.955A>G (p.Lys319Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001883714] Chr13:77000847 [GRCh38]
Chr13:77574982 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566176G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001905075] Chr13:76992041 [GRCh38]
Chr13:77566176 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.291A>C (p.Leu97Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001961507] Chr13:76995180 [GRCh38]
Chr13:77569315 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566198G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002036114] Chr13:76992063 [GRCh38]
Chr13:77566198 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566121G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001978715] Chr13:76991986 [GRCh38]
Chr13:77566121 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.176G>T (p.Arg59Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002016371] Chr13:76995065 [GRCh38]
Chr13:77569200 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.127C>T (p.Arg43Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001998464] Chr13:76992225 [GRCh38]
Chr13:77566360 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.62G>A (p.Arg21Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001915874] Chr13:76992160 [GRCh38]
Chr13:77566295 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.599_600insCA (p.Lys200fs) insertion Neuronal ceroid lipofuscinosis [RCV001939433] Chr13:77000490..77000491 [GRCh38]
Chr13:77574625..77574626 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.77566162G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002050450] Chr13:76992027 [GRCh38]
Chr13:77566162 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.77566096A>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002017476] Chr13:76991961 [GRCh38]
Chr13:77566096 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-11G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001998788] Chr13:76992088 [GRCh38]
Chr13:77566223 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.987T>G (p.Tyr329Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001960560] Chr13:77000879 [GRCh38]
Chr13:77575014 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.892C>T (p.His298Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001924075] Chr13:77000784 [GRCh38]
Chr13:77574919 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.203C>T (p.Pro68Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002027990] Chr13:76995092 [GRCh38]
Chr13:77569227 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.19A>T (p.Thr7Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001919636] Chr13:76992117 [GRCh38]
Chr13:77566252 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.347T>C (p.Met116Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001901874] Chr13:76995909 [GRCh38]
Chr13:77570044 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1072T>C (p.Leu358=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002071539] Chr13:77000964 [GRCh38]
Chr13:77575099 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.24A>C (p.Ala8=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002089304] Chr13:76992122 [GRCh38]
Chr13:77566257 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.222T>C (p.Tyr74=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002168343] Chr13:76995111 [GRCh38]
Chr13:77569246 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.-13T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002207362] Chr13:76992086 [GRCh38]
Chr13:77566221 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+7GCG[2] microsatellite Neuronal ceroid lipofuscinosis [RCV002167613] Chr13:76992278..76992280 [GRCh38]
Chr13:77566413..77566415 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566101G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002167755] Chr13:76991966 [GRCh38]
Chr13:77566101 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566164G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002076271] Chr13:76992029 [GRCh38]
Chr13:77566164 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566194G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002109601] Chr13:76992059 [GRCh38]
Chr13:77566194 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.234A>C (p.Pro78=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002210754] Chr13:76995123 [GRCh38]
Chr13:77569258 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.75C>G (p.Ser25=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002205259] Chr13:76992173 [GRCh38]
Chr13:77566308 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV002227866] Chr13:76996037 [GRCh38]
Chr13:77570172 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.831G>T (p.Gly277=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002193185] Chr13:77000723 [GRCh38]
Chr13:77574858 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.339+13C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002130646] Chr13:76995241 [GRCh38]
Chr13:77569376 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.381T>A (p.Thr127=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002107977] Chr13:76995943 [GRCh38]
Chr13:77570078 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566155C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002216005] Chr13:76992020 [GRCh38]
Chr13:77566155 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.565+19G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002095241] Chr13:76996146 [GRCh38]
Chr13:77570281 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.-1G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002193151] Chr13:76992098 [GRCh38]
Chr13:77566233 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.426C>G (p.Gly142=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002077861] Chr13:76995988 [GRCh38]
Chr13:77570123 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566185A>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002193737] Chr13:76992050 [GRCh38]
Chr13:77566185 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.57G>T (p.Ala19=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002114473] Chr13:76992155 [GRCh38]
Chr13:77566290 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1038C>T (p.Ile346=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002096463] Chr13:77000930 [GRCh38]
Chr13:77575065 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566179C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002150948] Chr13:76992044 [GRCh38]
Chr13:77566179 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.957A>G (p.Lys319=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002114516] Chr13:77000849 [GRCh38]
Chr13:77574984 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.18C>T (p.Asp6=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002194148] Chr13:76992116 [GRCh38]
Chr13:77566251 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+12G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002147983] Chr13:76992283 [GRCh38]
Chr13:77566418 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566104C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002170927] Chr13:76991969 [GRCh38]
Chr13:77566104 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.495C>T (p.Cys165=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002076906] Chr13:76996057 [GRCh38]
Chr13:77570192 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.30C>A (p.Gly10=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002201293] Chr13:76992128 [GRCh38]
Chr13:77566263 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.105C>T (p.Leu35=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002159949] Chr13:76992203 [GRCh38]
Chr13:77566338 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.340-8T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002082083] Chr13:76995894 [GRCh38]
Chr13:77570029 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.303A>T (p.Val101=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002204311] Chr13:76995192 [GRCh38]
Chr13:77569327 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+13GC[6] microsatellite Neuronal ceroid lipofuscinosis [RCV002218478]|not provided [RCV002221698] Chr13:76992283..76992284 [GRCh38]
Chr13:77566418..77566419 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566158A>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002175395] Chr13:76992023 [GRCh38]
Chr13:77566158 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.566-15_566-11del microsatellite Neuronal ceroid lipofuscinosis [RCV002161575] Chr13:77000435..77000439 [GRCh38]
Chr13:77574570..77574574 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.666A>G (p.Ala222=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002216861] Chr13:77000558 [GRCh38]
Chr13:77574693 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.798T>C (p.Pro266=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002202027] Chr13:77000690 [GRCh38]
Chr13:77574825 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.340-12G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002143319] Chr13:76995890 [GRCh38]
Chr13:77570025 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566161G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002163728] Chr13:76992026 [GRCh38]
Chr13:77566161 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.771A>G (p.Thr257=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002142273] Chr13:77000663 [GRCh38]
Chr13:77574798 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.915G>A (p.Leu305=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002177536] Chr13:77000807 [GRCh38]
Chr13:77574942 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566200C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002144607] Chr13:76992065 [GRCh38]
Chr13:77566200 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.720C>T (p.Asn240=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002123321] Chr13:77000612 [GRCh38]
Chr13:77574747 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.333A>G (p.Gly111=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002181302] Chr13:76995222 [GRCh38]
Chr13:77569357 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566149G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002120919] Chr13:76992014 [GRCh38]
Chr13:77566149 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.618A>C (p.Gly206=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002219892] Chr13:77000510 [GRCh38]
Chr13:77574645 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.891A>G (p.Pro297=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002156093] Chr13:77000783 [GRCh38]
Chr13:77574918 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.96G>T (p.Leu32=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002119620] Chr13:76992194 [GRCh38]
Chr13:77566329 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.10:g.77566104C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002175677] Chr13:76991969 [GRCh38]
Chr13:77566104 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.565+7del deletion Neuronal ceroid lipofuscinosis [RCV002203390] Chr13:76996133 [GRCh38]
Chr13:77570268 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.174-6T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002156269] Chr13:76995057 [GRCh38]
Chr13:77569192 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.597G>A (p.Val199=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002160152] Chr13:77000489 [GRCh38]
Chr13:77574624 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.729T>C (p.Ala243=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002136597] Chr13:77000621 [GRCh38]
Chr13:77574756 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.153C>G (p.Arg51=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002155221] Chr13:76992251 [GRCh38]
Chr13:77566386 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.337T>C (p.Leu113_Lys114=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003112102] Chr13:76995226 [GRCh38]
Chr13:77569361 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.33C>T (p.Ala11_Glu12=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003117287] Chr13:76992131 [GRCh38]
Chr13:77566266 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.434C>A (p.Thr145Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV002284145] Chr13:76995996 [GRCh38]
Chr13:77570131 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_006493.4(CLN5):c.103C>T (p.Leu35Phe) single nucleotide variant not provided [RCV002281398] Chr13:76992201 [GRCh38]
Chr13:77566336 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.16C>A (p.Arg6Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002296845] Chr13:76991967 [GRCh38]
Chr13:77566102 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
NM_006493.2(CLN5):c.101C>A (p.Pro34Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002303461] Chr13:76992052 [GRCh38]
Chr13:77566187 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1050C>G (p.Ile350Met) single nucleotide variant Inborn genetic diseases [RCV002340874] Chr13:77000942 [GRCh38]
Chr13:77575077 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.338T>A (p.Leu113Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV002306665] Chr13:76995227 [GRCh38]
Chr13:77569362 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.244C>T (p.Pro82Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002301760] Chr13:76995133 [GRCh38]
Chr13:77569268 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.447C>G (p.Leu149_Arg150=) single nucleotide variant Inborn genetic diseases [RCV002355962] Chr13:76996009 [GRCh38]
Chr13:77570144 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1022T>C (p.Ile341Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002994891] Chr13:77000914 [GRCh38]
Chr13:77575049 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.486C>G (p.Gly162_Ala163=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002972126] Chr13:76996048 [GRCh38]
Chr13:77570183 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q22.1-22.3(chr13:73600015-77624907)x1 copy number loss not provided [RCV002475822] Chr13:73600015..77624907 [GRCh37]
Chr13:13q22.1-22.3		 uncertain significance
NM_006493.2(CLN5):c.20T>C (p.Leu7Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002971424] Chr13:76991971 [GRCh38]
Chr13:77566106 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.48C>G (p.Gly16_Ala17=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002881044] Chr13:76992146 [GRCh38]
Chr13:77566281 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.42del (p.Arg15fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV002510732] Chr13:76992139 [GRCh38]
Chr13:77566274 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.768T>C (p.Tyr256_Thr257=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002862725] Chr13:77000660 [GRCh38]
Chr13:77574795 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.149G>A (p.Arg50Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002908578] Chr13:76992247 [GRCh38]
Chr13:77566382 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.480T>C (p.Asn160_Gln161=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002756161] Chr13:76996042 [GRCh38]
Chr13:77570177 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.387G>A (p.Lys129_Asn130=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003076016] Chr13:76995949 [GRCh38]
Chr13:77570084 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.609T>C (p.Asn203_Glu204=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002775334] Chr13:77000501 [GRCh38]
Chr13:77574636 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.303A>G (p.Val101_Trp102=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002881450] Chr13:76995192 [GRCh38]
Chr13:77569327 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.565+17T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002726653] Chr13:76996144 [GRCh38]
Chr13:77570279 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.786C>G (p.Tyr262Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003012522] Chr13:77000678 [GRCh38]
Chr13:77574813 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.2(CLN5):c.107C>A (p.Ser36Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002616400] Chr13:76992058 [GRCh38]
Chr13:77566193 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.745T>G (p.Phe249Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002995489] Chr13:77000637 [GRCh38]
Chr13:77574772 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG indel Neuronal ceroid lipofuscinosis [RCV002908504] Chr13:76995850..76995927 [GRCh38]
Chr13:77569985..77570062 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.48C>A (p.Gly16_Ala17=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002861521] Chr13:76992146 [GRCh38]
Chr13:77566281 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1041_1042delinsCC (p.Leu348_Pro349=) indel Neuronal ceroid lipofuscinosis [RCV003095385] Chr13:77000933..77000934 [GRCh38]
Chr13:77575068..77575069 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.6C>G (p.Arg2=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002908710] Chr13:76991957 [GRCh38]
Chr13:77566092 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.129G>C (p.Arg43_Val44=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002913621] Chr13:76992227 [GRCh38]
Chr13:77566362 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.1053A>G (p.Arg351_Asn352=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003039220] Chr13:77000945 [GRCh38]
Chr13:77575080 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs) deletion Neuronal ceroid lipofuscinosis [RCV003038347] Chr13:76991959..76991971 [GRCh38]
Chr13:77566094..77566106 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.928C>G (p.Gln310Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002866629] Chr13:77000820 [GRCh38]
Chr13:77574955 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.37A>G (p.Met13Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002622211] Chr13:76992135 [GRCh38]
Chr13:77566270 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.59C>T (p.Ala20Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002889423] Chr13:76992157 [GRCh38]
Chr13:77566292 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.411A>G (p.Glu137_Leu138=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002695894] Chr13:76995973 [GRCh38]
Chr13:77570108 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.102G>A (p.Pro34=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002593199] Chr13:76992053 [GRCh38]
Chr13:77566188 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.921T>C (p.Ser307_Leu308=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002867798] Chr13:77000813 [GRCh38]
Chr13:77574948 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.242C>A (p.Ser81Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003037953] Chr13:76995131 [GRCh38]
Chr13:77569266 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.141C>T (p.Ile47_Pro48=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002866388] Chr13:76992239 [GRCh38]
Chr13:77566374 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.513T>C (p.Asp171_Asp172=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002867697] Chr13:76996075 [GRCh38]
Chr13:77570210 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.114T>A (p.Val38_Pro39=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002797075] Chr13:76992212 [GRCh38]
Chr13:77566347 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.6G>T (p.Ala2_Gln3=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002796336] Chr13:76992104 [GRCh38]
Chr13:77566239 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.46G>A (p.Gly16Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003078062] Chr13:76992144 [GRCh38]
Chr13:77566279 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.165G>A (p.Val55_Pro56=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002638468] Chr13:76992263 [GRCh38]
Chr13:77566398 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.236C>T (p.Thr79Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003054806] Chr13:76995125 [GRCh38]
Chr13:77569260 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.107C>T (p.Ser36Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002640072] Chr13:76992058 [GRCh38]
Chr13:77566193 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.391T>C (p.Tyr131His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002913804] Chr13:76995953 [GRCh38]
Chr13:77570088 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1009C>G (p.Pro337Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003002640] Chr13:77000901 [GRCh38]
Chr13:77575036 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1038C>A (p.Ile346_Pro347=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003038636] Chr13:77000930 [GRCh38]
Chr13:77575065 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.565+10G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002979219] Chr13:76996137 [GRCh38]
Chr13:77570272 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.566-7A>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002848191] Chr13:77000451 [GRCh38]
Chr13:77574586 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.563C>T (p.Ser188Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002622194] Chr13:76996125 [GRCh38]
Chr13:77570260 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.228C>T (p.Phe76_Cys77=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003054536] Chr13:76995117 [GRCh38]
Chr13:77569252 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+9G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002885097] Chr13:76992280 [GRCh38]
Chr13:77566415 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.12G>C (p.Glu4Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002979366] Chr13:76992110 [GRCh38]
Chr13:77566245 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.623_627del (p.Ile207_Tyr208insTer) deletion Neuronal ceroid lipofuscinosis [RCV003020738] Chr13:77000514..77000518 [GRCh38]
Chr13:77574649..77574653 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.764dup (p.Asn255fs) duplication Neuronal ceroid lipofuscinosis [RCV002828257] Chr13:77000654..77000655 [GRCh38]
Chr13:77574789..77574790 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.497T>C (p.Phe166Ser) single nucleotide variant Inborn genetic diseases [RCV002742400] Chr13:76996059 [GRCh38]
Chr13:77570194 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.156C>T (p.His52_Trp53=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003043694] Chr13:76992254 [GRCh38]
Chr13:77566389 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.45G>C (p.Arg15_Gly16=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002574761] Chr13:76992143 [GRCh38]
Chr13:77566278 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.959A>G (p.Gln320Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003006410] Chr13:77000851 [GRCh38]
Chr13:77574986 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.969G>A (p.Leu323_Phe324=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003007962] Chr13:77000861 [GRCh38]
Chr13:77574996 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.762C>T (p.Thr254_Asn255=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002852130] Chr13:77000654 [GRCh38]
Chr13:77574789 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.64C>G (p.Arg22Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002663531] Chr13:76992015 [GRCh38]
Chr13:77566150 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.45G>A (p.Ala15=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003056869] Chr13:76991996 [GRCh38]
Chr13:77566131 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.486C>A (p.Gly162_Ala163=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003059256] Chr13:76996048 [GRCh38]
Chr13:77570183 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.866A>G (p.Lys289Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002624468] Chr13:77000758 [GRCh38]
Chr13:77574893 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.11A>C (p.Glu4Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002791228] Chr13:76992109 [GRCh38]
Chr13:77566244 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.875A>T (p.Tyr292Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002642550] Chr13:77000767 [GRCh38]
Chr13:77574902 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.172A>G (p.Lys58Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002666794] Chr13:76992270 [GRCh38]
Chr13:77566405 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.-7C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003043168] Chr13:76992092 [GRCh38]
Chr13:77566227 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.31T>A (p.Ser11Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002828584] Chr13:76991982 [GRCh38]
Chr13:77566117 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.327C>A (p.Leu109_Leu110=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002889967] Chr13:76995216 [GRCh38]
Chr13:77569351 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.958C>G (p.Gln320Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002828226] Chr13:77000850 [GRCh38]
Chr13:77574985 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.150G>T (p.Arg50_Arg51=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002877035] Chr13:76992248 [GRCh38]
Chr13:77566383 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.566-20_566-19insA insertion Neuronal ceroid lipofuscinosis [RCV003030486] Chr13:77000438..77000439 [GRCh38]
Chr13:77574573..77574574 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.335A>T (p.His112Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003048710] Chr13:76995224 [GRCh38]
Chr13:77569359 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1021A>G (p.Ile341Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002582181] Chr13:77000913 [GRCh38]
Chr13:77575048 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.756A>G (p.Ile252Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002650991] Chr13:77000648 [GRCh38]
Chr13:77574783 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.174-20G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002833815] Chr13:76995043 [GRCh38]
Chr13:77569178 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.498T>C (p.Phe166_Phe167=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003044586] Chr13:76996060 [GRCh38]
Chr13:77570195 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.889C>A (p.Pro297Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003090172] Chr13:77000781 [GRCh38]
Chr13:77574916 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.188G>T (p.Arg63Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002581590] Chr13:76995077 [GRCh38]
Chr13:77569212 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.947T>G (p.Ile316Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002581650] Chr13:77000839 [GRCh38]
Chr13:77574974 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.82C>T (p.Pro28Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002602556] Chr13:76992033 [GRCh38]
Chr13:77566168 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.173+20C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003008501] Chr13:76992291 [GRCh38]
Chr13:77566426 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.132C>T (p.Val44_Ser45=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002937304] Chr13:76992230 [GRCh38]
Chr13:77566365 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.51G>A (p.Gly17=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002715321] Chr13:76992002 [GRCh38]
Chr13:77566137 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.751A>G (p.Asn251Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002648165] Chr13:77000643 [GRCh38]
Chr13:77574778 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.1014del (p.Phe338fs) deletion Neuronal ceroid lipofuscinosis [RCV002899282] Chr13:77000903 [GRCh38]
Chr13:77575038 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.2(CLN5):c.15G>C (p.Leu5=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003029351] Chr13:76991966 [GRCh38]
Chr13:77566101 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.287G>T (p.Arg96Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003009027] Chr13:76995176 [GRCh38]
Chr13:77569311 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.98T>A (p.Leu33His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003061302] Chr13:76992196 [GRCh38]
Chr13:77566331 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.36A>C (p.Gly12=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003010223] Chr13:76991987 [GRCh38]
Chr13:77566122 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.566-15G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003061097] Chr13:77000443 [GRCh38]
Chr13:77574578 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.354T>C (p.Asp118_Ala119=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003063758] Chr13:76995916 [GRCh38]
Chr13:77570051 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.92C>T (p.Ala31Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003086170] Chr13:76992190 [GRCh38]
Chr13:77566325 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.321A>G (p.Gly107_Asp108=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003030193] Chr13:76995210 [GRCh38]
Chr13:77569345 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.104C>T (p.Ala35Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002647304] Chr13:76992055 [GRCh38]
Chr13:77566190 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.653dup (p.Glu219fs) duplication Neuronal ceroid lipofuscinosis [RCV003029629] Chr13:77000542..77000543 [GRCh38]
Chr13:77574677..77574678 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.2(CLN5):c.31T>G (p.Ser11Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002631160] Chr13:76991982 [GRCh38]
Chr13:77566117 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.339+7A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003048008] Chr13:76995235 [GRCh38]
Chr13:77569370 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.2(CLN5):c.33T>C (p.Ser11=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003062028] Chr13:76991984 [GRCh38]
Chr13:77566119 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.705G>T (p.Val235_Leu236=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002961886] Chr13:77000597 [GRCh38]
Chr13:77574732 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.566-15G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003087777] Chr13:77000443 [GRCh38]
Chr13:77574578 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.231T>C (p.Cys77_Pro78=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002921922] Chr13:76995120 [GRCh38]
Chr13:77569255 [GRCh37]
Chr13:13q22.3		 likely benign