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 D-mannose binding activity; bis(monoacylglycero)phosphate synthase activity; and long-chain fatty acyl-CoA hydrolase 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: bis(monoacylglycero)phosphate synthase CLN5; BMP synthase CLN5; ceroid-lipofuscinosis neuronal protein 5; ceroid-lipofuscinosis, neuronal 5; FLJ90628; NCL; palmitoyl protein thioesterase CLN5; S-depalmitoylase CLN5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
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.p14 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

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
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:28442266   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   PMID:36368077   PMID:37708259  


Genomics

Comparative Map Data
CLN5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381376,992,081 - 77,005,117 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 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
GRCm3914103,307,679 - 103,315,064 (+)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
GRCr81586,308,286 - 86,321,679 (+)NCBIGRCr8
mRatBN7.21579,893,573 - 79,903,438 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1579,893,548 - 79,903,438 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl265,893,758 - 65,896,044 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1583,872,121 - 83,881,834 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01584,995,156 - 85,004,873 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01581,922,785 - 81,932,498 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 Map15q21NCBI
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
NHGRI_mPanPan1-v21478,557,935 - 78,572,799 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11377,154,083 - 77,166,649 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01358,207,542 - 58,220,697 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11377,253,203 - 77,263,759 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1377,253,203 - 77,263,759 (+)Ensemblpanpan1.1panPan2
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 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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
507 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]|not specified [RCV004689404] Chr13:77000580 [GRCh38]
Chr13:77574715 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006493.4(CLN5):c.188G>A (p.Arg63His) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000002676]|Neuronal ceroid lipofuscinosis [RCV000698933]|not provided [RCV003128567] 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		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV000049946]|Neuronal ceroid lipofuscinosis [RCV000989149]|not specified [RCV004689440] Chr13:76995077 [GRCh38]
Chr13:77569212 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
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]|not provided [RCV004589544] Chr13:76995990 [GRCh38]
Chr13:77570125 [GRCh37]
Chr13:13q22.3		 pathogenic|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|conflicting interpretations of pathogenicity|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]|Neuronal ceroid lipofuscinosis [RCV003531948] 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 CLN5-related disorder [RCV003975257]|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 CLN5-related disorder [RCV003398802]|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|drug response|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]|not specified [RCV004689657] 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 [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 Inborn genetic diseases [RCV004020265]|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
NC_000013.11:g.76991973G>C 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
NC_000013.11:g.76992067C>G 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 CLN5-related disorder [RCV003977493]|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
NC_000013.11:g.76991953T>A 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
NC_000013.11:g.76992003C>A 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
NC_000013.11:g.76992067C>A 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 Inborn genetic diseases [RCV003298245]|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		 likely benign|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 CLN5-related disorder [RCV003927734]|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 Inborn genetic diseases [RCV003243011]|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 Inborn genetic diseases [RCV004609320]|Neuronal ceroid lipofuscinosis 5 [RCV001275304]|Neuronal ceroid lipofuscinosis [RCV000473641]|not provided [RCV000187073] Chr13:77000461 [GRCh38]
Chr13:77574596 [GRCh37]
Chr13:13q22.3		 likely benign|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]|not specified [RCV004782321] 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]|not provided [RCV004705284] 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 provided [RCV004704107]|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]|Neuronal ceroid lipofuscinosis [RCV003532090] 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]|Neuronal ceroid lipofuscinosis [RCV003766127] Chr13:77000850 [GRCh38]
Chr13:77574985 [GRCh37]
Chr13:13q22.3		 pathogenic|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 Neuronal ceroid lipofuscinosis [RCV003647770]|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
NC_000013.11:g.76992005A>G 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
NC_000013.11:g.76992008C>A 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 provided [RCV004703925]|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_006493.4(CLN5):c.-96C>T 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 CLN5-related disorder [RCV003419811]|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|likely 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
NC_000013.11:g.76991976C>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.1044A>C (p.Leu348Phe) single nucleotide variant Inborn genetic diseases [RCV003300612] Chr13:77000936 [GRCh38]
Chr13:77575071 [GRCh37]
Chr13:13q22.3		 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
NC_000013.11:g.76992068G>C 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|likely 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] 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
NC_000013.11:g.76991975G>A 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 CLN5-related disorder [RCV003411640]|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
NC_000013.11:g.76991952A>C 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] 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] 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] 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] Chr13:76995096 [GRCh38]
Chr13:77569231 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992002G>C 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]|not provided [RCV004590070] 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] 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] 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
NC_000013.11:g.76991968G>T 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 Inborn genetic diseases [RCV004027585]|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]|Pontocerebellar hypoplasia type 2D [RCV003230275] Chr13:76995097 [GRCh38]
Chr13:77569232 [GRCh37]
Chr13:13q22.3		 likely pathogenic|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_006493.2(CLN5):c.-115A>G 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] 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 Inborn genetic diseases [RCV004033888]|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		 likely benign|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|likely 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 Inborn genetic diseases [RCV004609629]|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
NC_000013.11:g.76991976C>A 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 Inborn genetic diseases [RCV004614397]|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 Inborn genetic diseases [RCV004611852]|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]|not specified [RCV004594375] 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] Chr13:77000957 [GRCh38]
Chr13:77575092 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992062G>A 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] 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] 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.172A>T (p.Lys58Ter) single nucleotide variant not provided [RCV003236022] Chr13:76992270 [GRCh38]
Chr13:77566405 [GRCh37]
Chr13:13q22.3		 likely pathogenic
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
NC_000013.11:g.76992004A>G 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|conflicting interpretations of pathogenicity|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
NC_000013.11:g.76992001G>A 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
NC_000013.11:g.76992076C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001341580] Chr13:76992076 [GRCh38]
Chr13:77566211 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.76991982T>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_000013.11:g.76992031C>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
NC_000013.11:g.76992013C>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|no classifications from unflagged records
NC_000013.11:g.76992047C>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 5 [RCV003469757]|Neuronal ceroid lipofuscinosis [RCV001389542] Chr13:76995095..76995101 [GRCh38]
Chr13:77569230..77569236 [GRCh37]
Chr13:13q22.3		 pathogenic|likely 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_000013.11:g.76991993C>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_000013.11:g.76992068G>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_000013.11:g.76992056G>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_000013.11:g.76992020C>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_000013.11:g.76992077C>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]|not specified [RCV003235593] Chr13:76996034 [GRCh38]
Chr13:77570169 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.594G>A (p.Trp198Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647863]|not provided [RCV002255219] Chr13:77000486 [GRCh38]
Chr13:77574621 [GRCh37]
Chr13:13q22.3		 pathogenic|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_000013.11:g.76992067C>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_000013.11:g.76992066T>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 5 [RCV004571628]|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
NC_000013.11:g.76991993C>G 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_000013.11:g.76992041_76992352del 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_000013.11:g.76992036C>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 5 [RCV003146322]|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_000013.11:g.76992066T>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_000013.11:g.76991960G>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_000013.11:g.76992025T>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_000013.11:g.76991974G>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_000013.11:g.76992041G>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_000013.11:g.76992063G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002036114] Chr13:76992063 [GRCh38]
Chr13:77566198 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.76991986G>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_000013.11:g.76992027G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002050450] Chr13:76992027 [GRCh38]
Chr13:77566162 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.76991961A>T single nucleotide variant Inborn genetic diseases [RCV003269072]|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 5 [RCV003471150]|Neuronal ceroid lipofuscinosis [RCV001960560] Chr13:77000879 [GRCh38]
Chr13:77575014 [GRCh37]
Chr13:13q22.3		 pathogenic|likely 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_000013.11:g.76991966G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002167755] Chr13:76991966 [GRCh38]
Chr13:77566101 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992029G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002076271] Chr13:76992029 [GRCh38]
Chr13:77566164 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992059G>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]|Neuronal ceroid lipofuscinosis [RCV003647861] Chr13:76996037 [GRCh38]
Chr13:77570172 [GRCh37]
Chr13:13q22.3		 likely pathogenic|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_000013.11:g.76992020C>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_000013.11:g.76992050A>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_000013.11:g.76992044C>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]|not provided [RCV004809795] 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_000013.11:g.76991969C>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_000013.11:g.76992023A>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_000013.11:g.76992026G>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_000013.11:g.76992065C>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_000013.11:g.76992014G>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_000013.11:g.76991969C>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=) 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=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003117287] Chr13:76992131 [GRCh38]
Chr13:77566266 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.826T>C (p.Phe276Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV004785907] Chr13:77000718 [GRCh38]
Chr13:77574853 [GRCh37]
Chr13:13q22.3		 uncertain significance
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
NC_000013.11:g.76991999G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647298] Chr13:76991999 [GRCh38]
Chr13:77566134 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992080A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648433] Chr13:76992080 [GRCh38]
Chr13:77566215 [GRCh37]
Chr13:13q22.3		 likely benign
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
NC_000013.11:g.76991967C>A 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
NC_000013.11:g.76992052C>A 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=) 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=) 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
NC_000013.11:g.76991971T>C 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=) 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=) 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=) 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=) 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=) 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=) 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
NC_000013.11:g.76992058C>A 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 5 [RCV004571810]|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=) 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.Pro347_Leu348=) indel Neuronal ceroid lipofuscinosis [RCV003095385] Chr13:77000933..77000934 [GRCh38]
Chr13:77575068..77575069 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.76991957C>G 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=) 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=) 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]|not provided [RCV004790258] 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=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002695894] Chr13:76995973 [GRCh38]
Chr13:77570108 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992053G>A 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=) 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=) 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=) 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=) 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=) 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=) 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
NC_000013.11:g.76992058C>T 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=) 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=) 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=) 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=) 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=) 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=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002852130] Chr13:77000654 [GRCh38]
Chr13:77574789 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992015C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002663531] Chr13:76992015 [GRCh38]
Chr13:77566150 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.76991996G>A 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=) 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
NC_000013.11:g.76991982T>A 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=) 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=) 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=) 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]|not specified [RCV004700952] 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
NC_000013.11:g.76992033C>T 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=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002937304] Chr13:76992230 [GRCh38]
Chr13:77566365 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992002G>A 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
NC_000013.11:g.76991966G>C 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
NC_000013.11:g.76991987A>C 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=) 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=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003030193] Chr13:76995210 [GRCh38]
Chr13:77569345 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992055C>T 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
NC_000013.11:g.76991982T>G 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
NC_000013.11:g.76991984T>C 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=) 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=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002921922] Chr13:76995120 [GRCh38]
Chr13:77569255 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.339+1G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003044214] Chr13:76995229 [GRCh38]
Chr13:77569364 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.687C>G (p.Tyr229Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002877424] Chr13:77000579 [GRCh38]
Chr13:77574714 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.818C>T (p.Thr273Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003009059] Chr13:77000710 [GRCh38]
Chr13:77574845 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.422T>C (p.Leu141Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002832801] Chr13:76995984 [GRCh38]
Chr13:77570119 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.339+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002635835] Chr13:76995229 [GRCh38]
Chr13:77569364 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.515A>G (p.Asp172Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003051758] Chr13:76996077 [GRCh38]
Chr13:77570212 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.76991983C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003068825] Chr13:76991983 [GRCh38]
Chr13:77566118 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.248T>C (p.Ile83Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002583370] Chr13:76995137 [GRCh38]
Chr13:77569272 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.170A>G (p.Tyr57Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002612462] Chr13:76992268 [GRCh38]
Chr13:77566403 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.215C>G (p.Ala72Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003066201] Chr13:76995104 [GRCh38]
Chr13:77569239 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.224C>G (p.Thr75Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003145044] Chr13:76995113 [GRCh38]
Chr13:77569248 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.288del (p.Leu97fs) deletion Retinal dystrophy [RCV004795287] Chr13:76995177 [GRCh38]
Chr13:77569312 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.854G>A (p.Gly285Asp) single nucleotide variant Inborn genetic diseases [RCV003199950] Chr13:77000746 [GRCh38]
Chr13:77574881 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.389A>G (p.Asn130Ser) single nucleotide variant Inborn genetic diseases [RCV003201428] Chr13:76995951 [GRCh38]
Chr13:77570086 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.2(CLN5):c.70G>C (p.Gly24Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003145043] Chr13:76992021 [GRCh38]
Chr13:77566156 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.639_640insTT (p.Val214fs) insertion Neuronal ceroid lipofuscinosis 5 [RCV003136483] Chr13:77000530..77000531 [GRCh38]
Chr13:77574665..77574666 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.778T>C (p.Phe260Leu) single nucleotide variant Inborn genetic diseases [RCV003285264] Chr13:77000670 [GRCh38]
Chr13:77574805 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.75_81del (p.Trp26fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV003338187] Chr13:76992172..76992178 [GRCh38]
Chr13:77566307..77566313 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.474del (p.Trp158fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV003468471] Chr13:76996035 [GRCh38]
Chr13:77570170 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.400G>T (p.Glu134Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003468473] Chr13:76995962 [GRCh38]
Chr13:77570097 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.34G>T (p.Glu12Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003468474] Chr13:76992132 [GRCh38]
Chr13:77566267 [GRCh37]
Chr13:13q22.3		 likely pathogenic|uncertain significance
NM_006493.4(CLN5):c.114_124dup (p.Ser42fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV003468475] Chr13:76992207..76992208 [GRCh38]
Chr13:77566342..77566343 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.431_432del (p.Cys144fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV003468476]|Neuronal ceroid lipofuscinosis [RCV003533863] Chr13:76995992..76995993 [GRCh38]
Chr13:77570127..77570128 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_006493.4(CLN5):c.173+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003468478]|Neuronal ceroid lipofuscinosis [RCV003779162] Chr13:76992272 [GRCh38]
Chr13:77566407 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.173+16C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003874999] Chr13:76992287 [GRCh38]
Chr13:77566422 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.342_346dup (p.Met116fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV003468470] Chr13:76995902..76995903 [GRCh38]
Chr13:77570037..77570038 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.969_972del (p.Leu323fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV003468477] Chr13:77000858..77000861 [GRCh38]
Chr13:77574993..77574996 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.717dup (p.Asn240Ter) duplication Neuronal ceroid lipofuscinosis 5 [RCV003468468] Chr13:77000606..77000607 [GRCh38]
Chr13:77574741..77574742 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NC_000013.11:g.76991996G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648457] Chr13:76991996 [GRCh38]
Chr13:77566131 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992068G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648201] Chr13:76992068 [GRCh38]
Chr13:77566203 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992053G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647289] Chr13:76992053 [GRCh38]
Chr13:77566188 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992005A>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648480] Chr13:76992005 [GRCh38]
Chr13:77566140 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.11:g.76991975G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648586] Chr13:76991975 [GRCh38]
Chr13:77566110 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1		 pathogenic
GRCh37/hg19 13q22.2-22.3(chr13:76441389-78303365)x3 copy number gain See cases [RCV003445447] Chr13:76441389..78303365 [GRCh37]
Chr13:13q22.2-22.3		 uncertain significance
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NM_006493.4(CLN5):c.306G>A (p.Trp102Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003468479] Chr13:76995195 [GRCh38]
Chr13:77569330 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.525G>A (p.Trp175Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003388911] Chr13:76996087 [GRCh38]
Chr13:77570222 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.350A>C (p.His117Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003388909] Chr13:76995912 [GRCh38]
Chr13:77570047 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.627T>A (p.Tyr209Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003468469] Chr13:77000519 [GRCh38]
Chr13:77574654 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.626A>G (p.Tyr209Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003388910] Chr13:77000518 [GRCh38]
Chr13:77574653 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.361G>A (p.Gly121Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003388912] Chr13:76995923 [GRCh38]
Chr13:77570058 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.529G>T (p.Glu177Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648418] Chr13:76996091 [GRCh38]
Chr13:77570226 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.669G>A (p.Glu223=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648585] Chr13:77000561 [GRCh38]
Chr13:77574696 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.441_442dup (p.His148fs) duplication Neuronal ceroid lipofuscinosis 5 [RCV004573228]|Neuronal ceroid lipofuscinosis [RCV003648628] Chr13:76996000..76996001 [GRCh38]
Chr13:77570135..77570136 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NC_000013.11:g.76991990T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531841] Chr13:76991990 [GRCh38]
Chr13:77566125 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.975T>C (p.Tyr325=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647628] Chr13:77000867 [GRCh38]
Chr13:77575002 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.393C>T (p.Tyr131=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647302] Chr13:76995955 [GRCh38]
Chr13:77570090 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.192A>G (p.Pro64=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647319] Chr13:76995081 [GRCh38]
Chr13:77569216 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.375A>G (p.Thr125=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648568] Chr13:76995937 [GRCh38]
Chr13:77570072 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+13G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648073] Chr13:76992284 [GRCh38]
Chr13:77566419 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.606_618del (p.Asp202fs) deletion Neuronal ceroid lipofuscinosis [RCV003648098] Chr13:77000488..77000500 [GRCh38]
Chr13:77574623..77574635 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.636G>A (p.Trp212Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648196] Chr13:77000528 [GRCh38]
Chr13:77574663 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.173+11C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648183] Chr13:76992282 [GRCh38]
Chr13:77566417 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.739G>A (p.Ala247Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003649048] Chr13:77000631 [GRCh38]
Chr13:77574766 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.147C>T (p.Ser49=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648262] Chr13:76992245 [GRCh38]
Chr13:77566380 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.566-14T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648877] Chr13:77000444 [GRCh38]
Chr13:77574579 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.915G>T (p.Leu305=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648837] Chr13:77000807 [GRCh38]
Chr13:77574942 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.240C>T (p.Gly80=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648902] Chr13:76995129 [GRCh38]
Chr13:77569264 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992002G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003532454] Chr13:76992002 [GRCh38]
Chr13:77566137 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.339+15T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648969] Chr13:76995243 [GRCh38]
Chr13:77569378 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992071A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003533880] Chr13:76992071 [GRCh38]
Chr13:77566206 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.174-5A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647574] Chr13:76995058 [GRCh38]
Chr13:77569193 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.174-8_174-6del deletion Neuronal ceroid lipofuscinosis [RCV003649058] Chr13:76995055..76995057 [GRCh38]
Chr13:77569190..77569192 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.173+15G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648368] Chr13:76992286 [GRCh38]
Chr13:77566421 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.289T>C (p.Leu97=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648396] Chr13:76995178 [GRCh38]
Chr13:77569313 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.135G>A (p.Ser45=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648983] Chr13:76992233 [GRCh38]
Chr13:77566368 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.51G>A (p.Ala17=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648478] Chr13:76992149 [GRCh38]
Chr13:77566284 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.174-19G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003649143] Chr13:76995044 [GRCh38]
Chr13:77569179 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.576C>T (p.Phe192=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648592] Chr13:77000468 [GRCh38]
Chr13:77574603 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.639T>C (p.Asn213=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648791] Chr13:77000531 [GRCh38]
Chr13:77574666 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.849T>C (p.Thr283=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648804] Chr13:77000741 [GRCh38]
Chr13:77574876 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.359T>C (p.Ile120Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648823] Chr13:76995921 [GRCh38]
Chr13:77570056 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.173+12G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648390] Chr13:76992283 [GRCh38]
Chr13:77566418 [GRCh37]
Chr13:13q22.3		 likely benign
NC_000013.11:g.76992029G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003532455] Chr13:76992029 [GRCh38]
Chr13:77566164 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.105C>G (p.Leu35=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647257] Chr13:76992203 [GRCh38]
Chr13:77566338 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.882dup (p.Phe295fs) duplication Neuronal ceroid lipofuscinosis [RCV003648274] Chr13:77000770..77000771 [GRCh38]
Chr13:77574905..77574906 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.94C>T (p.Leu32=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647670] Chr13:76992192 [GRCh38]
Chr13:77566327 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.743_744dup (p.Phe249fs) microsatellite Neuronal ceroid lipofuscinosis [RCV003648291] Chr13:77000632..77000633 [GRCh38]
Chr13:77574767..77574768 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.450A>G (p.Arg150=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003648320] Chr13:76996012 [GRCh38]
Chr13:77570147 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.588A>G (p.Ala196=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003835415] Chr13:77000480 [GRCh38]
Chr13:77574615 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.340-1G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003833240] Chr13:76995901 [GRCh38]
Chr13:77570036 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.768T>G (p.Tyr256Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531673] Chr13:77000660 [GRCh38]
Chr13:77574795 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.989G>A (p.Trp330Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003533899] Chr13:77000881 [GRCh38]
Chr13:77575016 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.109del (p.Val37fs) deletion Neuronal ceroid lipofuscinosis [RCV003531679] Chr13:76992206 [GRCh38]
Chr13:77566341 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.441C>G (p.Pro147=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531551] Chr13:76996003 [GRCh38]
Chr13:77570138 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.69C>A (p.Arg23=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531865] Chr13:76992167 [GRCh38]
Chr13:77566302 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.339+19C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003532412] Chr13:76995247 [GRCh38]
Chr13:77569382 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.216del (p.Lys73fs) deletion Neuronal ceroid lipofuscinosis [RCV003534098] Chr13:76995105 [GRCh38]
Chr13:77569240 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.312T>C (p.Phe104=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003856414] Chr13:76995201 [GRCh38]
Chr13:77569336 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.54C>T (p.Gly18=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531652] Chr13:76992152 [GRCh38]
Chr13:77566287 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.339+17G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003852217] Chr13:76995245 [GRCh38]
Chr13:77569380 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.213A>G (p.Gln71=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003850347] Chr13:76995102 [GRCh38]
Chr13:77569237 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.492C>T (p.Ala164=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003834955] Chr13:76996054 [GRCh38]
Chr13:77570189 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.954C>T (p.His318=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531691] Chr13:77000846 [GRCh38]
Chr13:77574981 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.30C>G (p.Gly10=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003533938] Chr13:76992128 [GRCh38]
Chr13:77566263 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.69C>T (p.Arg23=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531819] Chr13:76992167 [GRCh38]
Chr13:77566302 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.134C>T (p.Ser45Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003531859] Chr13:76992232 [GRCh38]
Chr13:77566367 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.87C>T (p.Ala29=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003859563] Chr13:76992185 [GRCh38]
Chr13:77566320 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.174-9_174-6del deletion Neuronal ceroid lipofuscinosis [RCV003871616] Chr13:76995051..76995054 [GRCh38]
Chr13:77569186..77569189 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1 copy number loss not specified [RCV003987013] Chr13:56450978..93582180 [GRCh37]
Chr13:13q21.1-31.3		 pathogenic
NC_000013.11:g.76991970T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003867552] Chr13:76991970 [GRCh38]
Chr13:77566105 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1		 pathogenic
NM_006493.4(CLN5):c.351T>C (p.His117=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003862107] Chr13:76995913 [GRCh38]
Chr13:77570048 [GRCh37]
Chr13:13q22.3		 likely benign
NM_006493.4(CLN5):c.997C>T (p.Pro333Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV003993536] Chr13:77000889 [GRCh38]
Chr13:77575024 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.968T>A (p.Leu323Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV004575663] Chr13:77000860 [GRCh38]
Chr13:77574995 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.609del (p.Asn203fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV004575664] Chr13:77000501 [GRCh38]
Chr13:77574636 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_006493.4(CLN5):c.655G>T (p.Glu219Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV004575665] Chr13:77000547 [GRCh38]
Chr13:77574682 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NC_000013.10:g.(?_77574632)_(77577161_?)del deletion Neuronal ceroid lipofuscinosis [RCV004578241] Chr13:77574632..77577161 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.(?_77574573)_(77575104_?)del deletion Neuronal ceroid lipofuscinosis [RCV004578239] Chr13:77574573..77575104 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.731A>C (p.Glu244Ala) single nucleotide variant Inborn genetic diseases [RCV004613108] Chr13:77000623 [GRCh38]
Chr13:77574758 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.339+2T>A single nucleotide variant Neuronal ceroid lipofuscinosis 5 [RCV004577969] Chr13:76995230 [GRCh38]
Chr13:77569365 [GRCh37]
Chr13:13q22.3		 pathogenic
NC_000013.10:g.(?_77574631)_(77577159_?)del deletion Neuronal ceroid lipofuscinosis [RCV004578240] Chr13:77574631..77577159 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_006493.4(CLN5):c.965A>G (p.Tyr322Cys) single nucleotide variant Inborn genetic diseases [RCV004613106] Chr13:77000857 [GRCh38]
Chr13:77574992 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.161C>T (p.Pro54Leu) single nucleotide variant not provided [RCV004793954] Chr13:76992259 [GRCh38]
Chr13:77566394 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_006493.4(CLN5):c.429del (p.Cys144fs) deletion Neuronal ceroid lipofuscinosis 5 [RCV004764331]   likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:552
Count of miRNA genes:450
Interacting mature miRNAs:480
Transcripts:ENST00000377453, ENST00000485938
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407221321GWAS870297_Hchronotype measurement QTL GWAS870297 (human)5e-11chronotype measurement137699654276996543Human

Markers in Region
STS-H96517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371377,576,414 - 77,576,586UniSTSGRCh37
Build 361376,474,415 - 76,474,587RGDNCBI36
Celera1358,474,402 - 58,474,574RGD
Cytogenetic Map13q21.1-q32UniSTS
HuRef1358,274,113 - 58,274,285UniSTS
GeneMap99-GB4 RH Map13220.75UniSTS
NCBI RH Map13640.6UniSTS
SHGC-56376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371377,573,436 - 77,573,584UniSTSGRCh37
Build 361376,471,437 - 76,471,585RGDNCBI36
Celera1358,471,424 - 58,471,572RGD
Cytogenetic Map13q21.1-q32UniSTS
HuRef1358,271,135 - 58,271,283UniSTS
TNG Radiation Hybrid Map1327417.0UniSTS
RH44829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371377,575,217 - 77,575,315UniSTSGRCh37
Build 361376,473,218 - 76,473,316RGDNCBI36
Celera1358,473,205 - 58,473,303RGD
Cytogenetic Map13q21.1-q32UniSTS
HuRef1358,272,916 - 58,273,014UniSTS
GeneMap99-GB4 RH Map13222.18UniSTS
RH46145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371377,573,465 - 77,573,597UniSTSGRCh37
Build 361376,471,466 - 76,471,598RGDNCBI36
Celera1358,471,453 - 58,471,585RGD
Cytogenetic Map13q21.1-q32UniSTS
HuRef1358,271,164 - 58,271,296UniSTS
GeneMap99-GB4 RH Map13215.23UniSTS
NCBI RH Map13624.2UniSTS
A009I22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371377,575,229 - 77,575,383UniSTSGRCh37
Build 361376,473,230 - 76,473,384RGDNCBI36
Celera1358,473,217 - 58,473,371RGD
Cytogenetic Map13q21.1-q32UniSTS
HuRef1358,272,928 - 58,273,082UniSTS
GeneMap99-GB4 RH Map13220.72UniSTS
NCBI RH Map13635.4UniSTS
G32564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371377,575,229 - 77,575,383UniSTSGRCh37
Celera1358,473,217 - 58,473,371UniSTS
Cytogenetic Map13q21.1-q32UniSTS
HuRef1358,272,928 - 58,273,082UniSTS
CLN5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371377,574,665 - 77,574,836UniSTSGRCh37
Celera1358,472,653 - 58,472,824UniSTS
HuRef1358,272,364 - 58,272,535UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence


Ensembl Acc Id: ENST00000377453   ⟹   ENSP00000366673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,081 - 77,005,117 (+)Ensembl
Ensembl Acc Id: ENST00000485938   ⟹   ENSP00000482959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,059 - 76,997,863 (+)Ensembl
Ensembl Acc Id: ENST00000616833   ⟹   ENSP00000479547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,091 - 77,002,345 (+)Ensembl
Ensembl Acc Id: ENST00000635761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,999,782 - 77,000,383 (+)Ensembl
Ensembl Acc Id: ENST00000635905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,098 - 77,010,968 (+)Ensembl
Ensembl Acc Id: ENST00000635915   ⟹   ENSP00000490560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,160 - 77,002,411 (+)Ensembl
Ensembl Acc Id: ENST00000635989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,089 - 76,996,099 (+)Ensembl
Ensembl Acc Id: ENST00000636183   ⟹   ENSP00000490181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,990,660 - 77,005,117 (+)Ensembl
Ensembl Acc Id: ENST00000636405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,357 - 76,994,867 (+)Ensembl
Ensembl Acc Id: ENST00000636520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,994,051 - 76,999,939 (+)Ensembl
Ensembl Acc Id: ENST00000636525   ⟹   ENSP00000490078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,096 - 77,019,143 (+)Ensembl
Ensembl Acc Id: ENST00000636602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,995,229 - 76,996,277 (+)Ensembl
Ensembl Acc Id: ENST00000636681   ⟹   ENSP00000489922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,385 - 77,001,331 (+)Ensembl
Ensembl Acc Id: ENST00000636705   ⟹   ENSP00000490937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,573 - 77,002,464 (+)Ensembl
Ensembl Acc Id: ENST00000636767   ⟹   ENSP00000489855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,098 - 77,018,366 (+)Ensembl
Ensembl Acc Id: ENST00000636780   ⟹   ENSP00000489809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,044 - 77,002,477 (+)Ensembl
Ensembl Acc Id: ENST00000637278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,995,237 - 77,002,429 (+)Ensembl
Ensembl Acc Id: ENST00000637397   ⟹   ENSP00000490422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,087 - 77,017,131 (+)Ensembl
Ensembl Acc Id: ENST00000637537   ⟹   ENSP00000489711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1376,992,078 - 76,999,976 (+)Ensembl
RefSeq Acc Id: NM_001366624   ⟹   NP_001353553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381376,992,081 - 77,005,117 (+)NCBI
T2T-CHM13v2.01376,215,721 - 76,228,757 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006493   ⟹   NP_006484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381376,992,081 - 77,005,117 (+)NCBI
GRCh371377,566,059 - 77,576,652 (+)ENTREZGENE
GRCh371377,566,059 - 77,576,652 (+)NCBI
Build 361376,462,796 - 76,474,653 (+)NCBI Archive
HuRef1358,263,758 - 58,274,351 (+)ENTREZGENE
CHM1_11377,533,965 - 77,544,558 (+)NCBI
T2T-CHM13v2.01376,215,721 - 76,228,757 (+)NCBI
Sequence:
RefSeq Acc Id: NP_006484   ⟸   NM_006493
- Peptide Label: isoform 1
- UniProtKB: O75503 (UniProtKB/Swiss-Prot),   B3KQK7 (UniProtKB/Swiss-Prot),   A0A1B0GWI2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353553   ⟸   NM_001366624
- Peptide Label: isoform 2
- UniProtKB: A0A1B0GTI0 (UniProtKB/TrEMBL),   A0A1B0GTR6 (UniProtKB/TrEMBL),   A0A087WZY0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000490560   ⟸   ENST00000635915
Ensembl Acc Id: ENSP00000490181   ⟸   ENST00000636183
Ensembl Acc Id: ENSP00000489922   ⟸   ENST00000636681
Ensembl Acc Id: ENSP00000490078   ⟸   ENST00000636525
Ensembl Acc Id: ENSP00000489809   ⟸   ENST00000636780
Ensembl Acc Id: ENSP00000489855   ⟸   ENST00000636767
Ensembl Acc Id: ENSP00000490937   ⟸   ENST00000636705
Ensembl Acc Id: ENSP00000489711   ⟸   ENST00000637537
Ensembl Acc Id: ENSP00000490422   ⟸   ENST00000637397
Ensembl Acc Id: ENSP00000366673   ⟸   ENST00000377453
Ensembl Acc Id: ENSP00000479547   ⟸   ENST00000616833
Ensembl Acc Id: ENSP00000482959   ⟸   ENST00000485938

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75503-F1-model_v2 AlphaFold O75503 1-358 view protein structure

Promoters
RGD ID:6790756
Promoter ID:HG_KWN:18141
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000405644,   OTTHUMT00000045318,   OTTHUMT00000045319
Position:
Human AssemblyChrPosition (strand)Source
Build 361376,463,696 - 76,464,317 (+)MPROMDB
RGD ID:6810515
Promoter ID:HG_ACW:21167
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CLN5.EAPR07-UNSPLICED,   LUCHA.AAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361376,471,431 - 76,471,931 (-)MPROMDB
RGD ID:7226611
Promoter ID:EPDNEW_H19050
Type:initiation region
Name:CLN5_1
Description:ceroid-lipofuscinosis, neuronal 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19051  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381376,992,084 - 76,992,144EPDNEW
RGD ID:7226609
Promoter ID:EPDNEW_H19051
Type:initiation region
Name:CLN5_2
Description:ceroid-lipofuscinosis, neuronal 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19050  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381376,995,152 - 76,995,212EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2076 AgrOrtholog
COSMIC CLN5 COSMIC
Ensembl Genes ENSG00000102805 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377453 ENTREZGENE
  ENST00000377453.9 UniProtKB/Swiss-Prot
  ENST00000485938.4 UniProtKB/TrEMBL
  ENST00000616833.6 UniProtKB/TrEMBL
  ENST00000635915.1 UniProtKB/TrEMBL
  ENST00000636183.2 UniProtKB/Swiss-Prot
  ENST00000636525.2 UniProtKB/TrEMBL
  ENST00000636681.1 UniProtKB/TrEMBL
  ENST00000636705.1 UniProtKB/TrEMBL
  ENST00000636767.2 UniProtKB/TrEMBL
  ENST00000636780 ENTREZGENE
  ENST00000636780.2 UniProtKB/TrEMBL
  ENST00000637397.2 UniProtKB/TrEMBL
  ENST00000637537.2 UniProtKB/TrEMBL
GTEx ENSG00000102805 GTEx
HGNC ID HGNC:2076 ENTREZGENE
Human Proteome Map CLN5 Human Proteome Map
InterPro CLN5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1203 UniProtKB/Swiss-Prot
NCBI Gene 1203 ENTREZGENE
OMIM 608102 OMIM
PANTHER CEROID-LIPOFUSCINOSIS NEURONAL PROTEIN 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CLN5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26603 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
UniProt A0A087WZY0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTI0 ENTREZGENE
  A0A1B0GTR6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTV7_HUMAN UniProtKB/TrEMBL
  A0A1B0GU14_HUMAN UniProtKB/TrEMBL
  A0A1B0GUE8_HUMAN UniProtKB/TrEMBL
  A0A1B0GV94_HUMAN UniProtKB/TrEMBL
  A0A1B0GVL0_HUMAN UniProtKB/TrEMBL
  A0A1B0GWI2 ENTREZGENE, UniProtKB/TrEMBL
  A0A1C7CYZ2_HUMAN UniProtKB/TrEMBL
  B3KQK7 ENTREZGENE
  CLN5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A1B0GTI0 UniProtKB/TrEMBL
  B3KQK7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 CLN5  CLN5 intracellular trafficking protein  CLN5  CLN5, intracellular trafficking protein  Symbol and/or name change 5135510 APPROVED
2017-07-04 CLN5  CLN5, intracellular trafficking protein  CLN5  ceroid-lipofuscinosis, neuronal 5  Symbol and/or name change 5135510 APPROVED