CLN6 (CLN6 transmembrane ER protein) - Rat Genome Database

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Gene: CLN6 (CLN6 transmembrane ER protein) Homo sapiens
Analyze
Symbol: CLN6
Name: CLN6 transmembrane ER protein
RGD ID: 1320201
HGNC Page HGNC:2077
Description: Enables lysophosphatidic acid binding activity; protein homodimerization activity; and sulfatide binding activity. Involved in several processes, including cholesterol metabolic process; ganglioside metabolic process; and lysosomal lumen acidification. Located in several cellular components, including early endosome; endoplasmic reticulum lumen; and membrane raft. Implicated in neuronal ceroid lipofuscinosis; neuronal ceroid lipofuscinosis 6A; and neuronal ceroid lipofuscinosis 6B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ceroid-lipofuscinosis neuronal 6 late infantile; ceroid-lipofuscinosis neuronal protein 6; ceroid-lipofuscinosis, neuronal 6, late infantile; ceroid-lipofuscinosis, neuronal 6, late infantile, variant; CLN4A; CLN6A; FLJ20561; HsT18960; nclf
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381568,206,992 - 68,257,211 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1568,206,992 - 68,257,211 (-)EnsemblGRCh38hg38GRCh38
GRCh371568,499,330 - 68,522,066 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361566,286,384 - 66,309,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 341566,286,385 - 66,309,079NCBI
Celera1545,384,244 - 45,406,985 (-)NCBICelera
Cytogenetic Map15q23NCBI
HuRef1545,330,044 - 45,352,792 (-)NCBIHuRef
CHM1_11568,617,284 - 68,640,038 (-)NCBICHM1_1
T2T-CHM13v2.01566,025,741 - 66,075,904 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal amplitude of flash visual evoked potentials  (IAGP)
Abnormal brain morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal nervous system electrophysiology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal repetitive mannerisms  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Adult onset  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Apnea  (IAGP)
Aspiration pneumonia  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Atypical behavior  (IAGP)
Auditory hallucination  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Brisk reflexes  (IAGP)
Central sleep apnea  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Clumsiness  (IAGP)
Cognitive impairment  (IAGP)
Corpus callosum atrophy  (IAGP)
Cortical myoclonus  (IAGP)
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Difficulty standing  (IAGP)
Disturbance of facial expression  (IAGP)
Dysphagia  (IAGP)
EEG with generalized slow activity  (IAGP)
EEG with generalized slow activity grade 4  (IAGP)
EEG with photoparoxysmal response  (IAGP)
EEG with series of focal spikes  (IAGP)
EEG with spike-wave complexes  (IAGP)
Emotional lability  (IAGP)
Episodic tachypnea  (IAGP)
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal T2 hyperintense thalamic lesion  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Hallucinations  (IAGP)
Hyperactivity  (IAGP)
Hyperhidrosis  (IAGP)
Inability to walk  (IAGP)
Increased neuronal autofluorescent lipopigment  (IAGP)
Interictal EEG abnormality  (IAGP)
Intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Language impairment  (IAGP)
Large central visual field defect  (IAGP)
Late onset  (IAGP)
Leukoencephalopathy  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Low frustration tolerance  (IAGP)
Mental deterioration  (IAGP)
Middle age onset  (IAGP)
Motor deterioration  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonic spasms  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Non-periodic recurrent fever  (IAGP)
Obsessive-compulsive trait  (IAGP)
Optic disc pallor  (IAGP)
Parkinsonism  (IAGP)
Periventricular white matter hyperintensities  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor fine motor coordination  (IAGP)
Poor motor coordination  (IAGP)
Progressive language deterioration  (IAGP)
Progressive visual loss  (IAGP)
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Seizure  (IAGP)
Sleep abnormality  (IAGP)
Spastic ataxia  (IAGP)
Spasticity  (IAGP)
Status epilepticus without prominent motor symptoms  (IAGP)
Tachycardia  (IAGP)
Tremor  (IAGP)
Tube feeding  (IAGP)
Typical absence seizure  (IAGP)
Vascular granular osmiophilic material deposition  (IAGP)
Visual hallucination  (IAGP)
Visual loss  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Arsov T, etal., Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.
2. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Gao H, etal., Am J Hum Genet 2002 Feb;70(2):324-35. Epub 2001 Dec 21.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9097964   PMID:10740217   PMID:11722572   PMID:11727201   PMID:12477932   PMID:12673792   PMID:12815591   PMID:14702039   PMID:15010453   PMID:15146197   PMID:15265688   PMID:15489334  
PMID:15996215   PMID:16303743   PMID:16857350   PMID:17081983   PMID:17237713   PMID:17453415   PMID:18317235   PMID:18811591   PMID:19135028   PMID:19201763   PMID:19235893   PMID:19520283  
PMID:19941651   PMID:19946888   PMID:20020536   PMID:20301334   PMID:20301601   PMID:21359198   PMID:21873635   PMID:22190034   PMID:22883287   PMID:23180398   PMID:23377640   PMID:23455922  
PMID:24457600   PMID:24581221   PMID:24623722   PMID:26115733   PMID:26760575   PMID:26871637   PMID:26972000   PMID:27432908   PMID:27609421   PMID:28380382   PMID:28476624   PMID:29117863  
PMID:29656893   PMID:30177828   PMID:30463901   PMID:30528883   PMID:30561534   PMID:30804502   PMID:31732153   PMID:31871319   PMID:31901039   PMID:31980649   PMID:32171521   PMID:32203420  
PMID:32296183   PMID:32513696   PMID:32597833   PMID:32614325   PMID:32687490   PMID:32707033   PMID:32814053   PMID:32877691   PMID:33961781   PMID:34079125   PMID:34369648   PMID:34380921  
PMID:34597687   PMID:34709727   PMID:35012600   PMID:35013556   PMID:35384245   PMID:35439318   PMID:35696571   PMID:35921411   PMID:36114006   PMID:36180527   PMID:37499664   PMID:37827155  
PMID:38113892  


Genomics

Comparative Map Data
CLN6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381568,206,992 - 68,257,211 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1568,206,992 - 68,257,211 (-)EnsemblGRCh38hg38GRCh38
GRCh371568,499,330 - 68,522,066 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361566,286,384 - 66,309,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 341566,286,385 - 66,309,079NCBI
Celera1545,384,244 - 45,406,985 (-)NCBICelera
Cytogenetic Map15q23NCBI
HuRef1545,330,044 - 45,352,792 (-)NCBIHuRef
CHM1_11568,617,284 - 68,640,038 (-)NCBICHM1_1
T2T-CHM13v2.01566,025,741 - 66,075,904 (-)NCBIT2T-CHM13v2.0
Cln6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39962,746,067 - 62,759,288 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl962,746,067 - 62,759,288 (+)EnsemblGRCm39 Ensembl
GRCm38962,838,785 - 62,852,006 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl962,838,785 - 62,852,006 (+)EnsemblGRCm38mm10GRCm38
MGSCv37962,686,594 - 62,699,809 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36962,636,793 - 62,650,008 (+)NCBIMGSCv36mm8
Celera960,064,132 - 60,077,378 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map933.89NCBI
Cln6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8872,198,773 - 72,213,777 (+)NCBIGRCr8
mRatBN7.2863,303,356 - 63,318,360 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl863,303,029 - 63,318,360 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx868,818,357 - 68,833,395 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0867,090,793 - 67,105,849 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0864,960,807 - 64,975,845 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0867,733,215 - 67,748,170 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl867,733,215 - 67,748,172 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0867,461,962 - 67,476,917 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4866,987,057 - 67,002,013 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1866,996,226 - 67,037,937 (+)NCBI
Celera862,718,317 - 62,733,273 (+)NCBICelera
Cytogenetic Map8q24NCBI
Cln6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554507,876,522 - 7,886,581 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554507,876,572 - 7,885,305 (+)NCBIChiLan1.0ChiLan1.0
CLN6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21657,460,661 - 57,520,215 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11561,634,504 - 61,694,000 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01547,156,583 - 47,215,805 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11565,425,472 - 65,436,699 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1565,425,472 - 65,985,242 (-)Ensemblpanpan1.1panPan2
CLN6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13032,246,394 - 32,264,251 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3032,246,411 - 32,264,240 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3032,180,849 - 32,198,636 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03032,442,020 - 32,459,741 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3032,442,021 - 32,459,751 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13032,370,298 - 32,388,114 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03032,432,245 - 32,450,063 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03032,678,083 - 32,695,922 (-)NCBIUU_Cfam_GSD_1.0
Cln6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640110,222,378 - 110,236,565 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647128,070,462 - 28,084,648 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647128,069,058 - 28,084,607 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLN6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1166,107,228 - 166,126,808 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11166,107,895 - 166,126,054 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21183,878,601 - 183,893,266 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CLN6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12615,259,186 - 15,278,249 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666048126,190,316 - 126,209,504 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cln6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247814,866,927 - 4,879,321 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247814,866,896 - 4,879,321 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLN6
576 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000551912] Chr15:68211716 [GRCh38]
Chr15:68504054 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.832G>A (p.Ala278Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000543712] Chr15:68208244 [GRCh38]
Chr15:68500582 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.325C>T (p.Pro109Ser) single nucleotide variant not provided [RCV000520006] Chr15:68211836 [GRCh38]
Chr15:68504174 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.7del (p.Ala3fs) deletion Ceroid lipofuscinosis, neuronal, 6A [RCV000004295] Chr15:68229578 [GRCh38]
Chr15:68521916 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) microsatellite Ceroid lipofuscinosis, neuronal, 6A [RCV000004297]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV003332996]|Neuronal ceroid lipofuscinosis [RCV000465745]|See cases [RCV003156056]|not provided [RCV000187113] Chr15:68211765..68211766 [GRCh38]
Chr15:68504103..68504104 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.542+5G>T single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000004300]|Neuronal ceroid lipofuscinosis [RCV002512748] Chr15:68211258 [GRCh38]
Chr15:68503596 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) duplication Ceroid lipofuscinosis, neuronal, 6A [RCV000004301]|Neuronal ceroid lipofuscinosis [RCV001201445] Chr15:68214315..68214316 [GRCh38]
Chr15:68506653..68506654 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.482C>T (p.Thr161Met) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000768186]|Ceroid lipofuscinosis, neuronal, 6A [RCV003224312]|Inborn genetic diseases [RCV002528265]|Neuronal ceroid lipofuscinosis [RCV000632709]|not provided [RCV000519270] Chr15:68211679 [GRCh38]
Chr15:68504017 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.213C>T (p.Leu71=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000548759]|not specified [RCV000616836] Chr15:68214374 [GRCh38]
Chr15:68506712 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.490G>A (p.Asp164Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000526214] Chr15:68211315 [GRCh38]
Chr15:68503653 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.316dup (p.Arg106fs) duplication Ceroid lipofuscinosis, neuronal, 6A [RCV000004296]|Neuronal ceroid lipofuscinosis [RCV002512747]|not provided [RCV001171902] Chr15:68211844..68211845 [GRCh38]
Chr15:68504182..68504183 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000004292]|Inborn genetic diseases [RCV002316185]|Neuronal ceroid lipofuscinosis [RCV001067723]|not provided [RCV000492979] Chr15:68214373 [GRCh38]
Chr15:68506711 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) microsatellite Ceroid lipofuscinosis, neuronal, 6A [RCV000004293] Chr15:68211289..68211291 [GRCh38]
Chr15:68503627..68503629 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000004294]|Neuronal ceroid lipofuscinosis [RCV001851638]|not provided [RCV002468959] Chr15:68211793 [GRCh38]
Chr15:68504131 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000015.9:g.68504037_68504039delGAT microsatellite Ceroid lipofuscinosis, neuronal, 6A [RCV000004298]|Ceroid lipofuscinosis, neuronal, 6A [RCV002490306]|Neuronal ceroid lipofuscinosis [RCV000989354]|See cases [RCV002251873]|not provided [RCV001091349] Chr15:68211698..68211700 [GRCh38]
Chr15:68504036..68504038 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000004299] Chr15:68209639 [GRCh38]
Chr15:68501977 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787030]|not provided [RCV000058909] Chr15:68214387 [GRCh38]
Chr15:68506725 [GRCh37]
Chr15:15q23
pathogenic|not provided
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000675061]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787031]|Neuronal ceroid lipofuscinosis [RCV001378313]|not provided [RCV000058911] Chr15:68211853 [GRCh38]
Chr15:68504191 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance|not provided
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000675107]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787032]|not provided [RCV000058907] Chr15:68218595 [GRCh38]
Chr15:68510933 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance|not provided
NM_017882.3(CLN6):c.17G>C (p.Arg6Thr) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787033]|not provided [RCV000058915] Chr15:68229568 [GRCh38]
Chr15:68521906 [GRCh37]
Chr15:15q23
pathogenic|not provided
GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1 copy number loss See cases [RCV000053218] Chr15:67194581..69086285 [GRCh38]
Chr15:67486919..69378625 [GRCh37]
Chr15:65273973..67165679 [NCBI36]
Chr15:15q22.33-23
pathogenic
NM_017882.2(CLN6):c.297+83C>T single nucleotide variant Malignant melanoma [RCV000062913] Chr15:68214207 [GRCh38]
Chr15:68506545 [GRCh37]
Chr15:66293599 [NCBI36]
Chr15:15q23
not provided
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000668229]|Neuronal ceroid lipofuscinosis [RCV000702360]|not provided [RCV000058908] Chr15:68218584 [GRCh38]
Chr15:68510922 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|not provided
NM_017882.3(CLN6):c.231C>G (p.Asn77Lys) single nucleotide variant not provided [RCV000058910] Chr15:68214356 [GRCh38]
Chr15:68506694 [GRCh37]
Chr15:15q23
not provided
NM_017882.3(CLN6):c.446G>A (p.Arg149His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000664854]|Ceroid lipofuscinosis, neuronal, 6A [RCV002477206]|Neuronal ceroid lipofuscinosis [RCV000687100]|not provided [RCV000058912] Chr15:68211715 [GRCh38]
Chr15:68504053 [GRCh37]
Chr15:15q23
uncertain significance|not provided
NM_017882.3(CLN6):c.712T>A (p.Phe238Ile) single nucleotide variant not provided [RCV000058913] Chr15:68208364 [GRCh38]
Chr15:68500702 [GRCh37]
Chr15:15q23
not provided
NM_017882.3(CLN6):c.890del (p.Pro297fs) deletion Ceroid lipofuscinosis, neuronal, 6A [RCV000669748]|Neuronal ceroid lipofuscinosis [RCV002514294]|not provided [RCV000058914] Chr15:68208186 [GRCh38]
Chr15:68500524 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|not provided
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000667213]|Neuronal ceroid lipofuscinosis [RCV003105790]|not provided [RCV000116760]|not specified [RCV000517586] Chr15:68209701 [GRCh38]
Chr15:68502039 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.298-6C>T single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002498504]|Neuronal ceroid lipofuscinosis [RCV001083946]|not provided [RCV000675964]|not specified [RCV000116758] Chr15:68211869 [GRCh38]
Chr15:68504207 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_017882.3(CLN6):c.486+8C>T single nucleotide variant Agenesis of the corpus callosum with peripheral neuropathy [RCV001258279]|Ceroid lipofuscinosis, neuronal, 6A [RCV000678439]|Inborn genetic diseases [RCV002336251]|Neuronal ceroid lipofuscinosis [RCV000228160]|not provided [RCV000675962]|not specified [RCV000116759] Chr15:68211667 [GRCh38]
Chr15:68504005 [GRCh37]
Chr15:15q23
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_017882.3(CLN6):c.84-18C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002055470]|not specified [RCV000124336] Chr15:68218668 [GRCh38]
Chr15:68511006 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.282C>A (p.Pro94=) single nucleotide variant Inborn genetic diseases [RCV002316355]|Neuronal ceroid lipofuscinosis [RCV000632748]|not specified [RCV000124337] Chr15:68214305 [GRCh38]
Chr15:68506643 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.339G>A (p.Thr113=) single nucleotide variant Inborn genetic diseases [RCV002453447]|Neuronal ceroid lipofuscinosis [RCV000465480]|not specified [RCV000124339] Chr15:68211822 [GRCh38]
Chr15:68504160 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.487-15C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001116617]|not specified [RCV000124341] Chr15:68211333 [GRCh38]
Chr15:68503671 [GRCh37]
Chr15:15q23
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.585C>T (p.Gly195=) single nucleotide variant Inborn genetic diseases [RCV002354313]|Neuronal ceroid lipofuscinosis [RCV000529403]|not specified [RCV000124342] Chr15:68209717 [GRCh38]
Chr15:68502055 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) single nucleotide variant Inborn genetic diseases [RCV002312826]|Neuronal ceroid lipofuscinosis [RCV001079623]|not provided [RCV000675961]|not specified [RCV000124343] Chr15:68208307 [GRCh38]
Chr15:68500645 [GRCh37]
Chr15:15q23
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_017882.3(CLN6):c.822G>A (p.Ala274=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000533512]|not provided [RCV003390812]|not specified [RCV000124344] Chr15:68208254 [GRCh38]
Chr15:68500592 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000677327]|Ceroid lipofuscinosis, neuronal, 6A [RCV003224161]|Inborn genetic diseases [RCV002312552]|Neuronal ceroid lipofuscinosis [RCV000989355]|not provided [RCV000675965]|not specified [RCV000173024] Chr15:68229551 [GRCh38]
Chr15:68521889 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_017882.3(CLN6):c.180T>C (p.Phe60=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001453890]|not specified [RCV000603040] Chr15:68218554 [GRCh38]
Chr15:68510892 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.514T>C (p.Tyr172His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001374417] Chr15:68211291 [GRCh38]
Chr15:68503629 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000515438]|Inborn genetic diseases [RCV002313023]|Neuronal ceroid lipofuscinosis [RCV001085594]|not provided [RCV000766779]|not specified [RCV000187111] Chr15:68229532 [GRCh38]
Chr15:68521870 [GRCh37]
Chr15:15q23
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) single nucleotide variant Inborn genetic diseases [RCV002316994]|Neuronal ceroid lipofuscinosis [RCV000464831]|not specified [RCV000187087] Chr15:68229521 [GRCh38]
Chr15:68521859 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q23(chr15:67933759-68766493)x3 copy number gain See cases [RCV000139136] Chr15:67933759..68766493 [GRCh38]
Chr15:68226097..69058832 [GRCh37]
Chr15:66013151..66845886 [NCBI36]
Chr15:15q23
likely benign
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000458041]|not provided [RCV000724319] Chr15:68211845 [GRCh38]
Chr15:68504183 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) single nucleotide variant CLN6-related condition [RCV003398902]|Ceroid lipofuscinosis, neuronal, 6A [RCV000515242]|Ceroid lipofuscinosis, neuronal, 6A [RCV002054140]|Inborn genetic diseases [RCV002314666]|Neuronal ceroid lipofuscinosis [RCV001080133]|not provided [RCV000724552]|not specified [RCV000187108] Chr15:68208153 [GRCh38]
Chr15:68500491 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001258293]|Inborn genetic diseases [RCV002314630]|Neuronal ceroid lipofuscinosis [RCV000468908]|not provided [RCV001573238]|not specified [RCV000177296] Chr15:68214373 [GRCh38]
Chr15:68506711 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.2(CLN6):c.297+15delC deletion not specified [RCV000187082] Chr15:68214275 [GRCh38]
Chr15:68506613 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.297+19del deletion Neuronal ceroid lipofuscinosis [RCV001522609]|not specified [RCV000187083] Chr15:68214271 [GRCh38]
Chr15:68506609 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) microsatellite Ceroid lipofuscinosis, neuronal, 6A [RCV000195031]|Ceroid lipofuscinosis, neuronal, 6A [RCV001810435]|Neuronal ceroid lipofuscinosis [RCV000989353]|not provided [RCV000727479]|not specified [RCV000187114] Chr15:68208280..68208282 [GRCh38]
Chr15:68500618..68500620 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.-5C>T single nucleotide variant not specified [RCV000187085] Chr15:68229589 [GRCh38]
Chr15:68521927 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.63C>T (p.Gly21=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001413097]|not specified [RCV000187086] Chr15:68229522 [GRCh38]
Chr15:68521860 [GRCh37]
Chr15:15q23
benign|likely benign
NM_017882.3(CLN6):c.66C>T (p.Ala22=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001119610]|not specified [RCV000187088] Chr15:68229519 [GRCh38]
Chr15:68521857 [GRCh37]
Chr15:15q23
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.285T>A (p.Phe95Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000691595]|not provided [RCV000187091] Chr15:68214302 [GRCh38]
Chr15:68506640 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.297+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002513990]|not provided [RCV000187092] Chr15:68214289 [GRCh38]
Chr15:68506627 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000666497]|Inborn genetic diseases [RCV002517850]|Neuronal ceroid lipofuscinosis [RCV001228807]|not provided [RCV000187093] Chr15:68211857 [GRCh38]
Chr15:68504195 [GRCh37]
Chr15:15q23
likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.322C>G (p.Leu108Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002517851]|not provided [RCV000187095] Chr15:68211839 [GRCh38]
Chr15:68504177 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.2(CLN6):c.434A>G (p.His145Arg) single nucleotide variant not provided [RCV000187098] Chr15:68211727 [GRCh38]
Chr15:68504065 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.486+2T>C single nucleotide variant not provided [RCV000187099] Chr15:68211673 [GRCh38]
Chr15:68504011 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.665+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001379342]|not provided [RCV000187100] Chr15:68209636 [GRCh38]
Chr15:68501974 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.599C>G (p.Ser200Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001921225] Chr15:68209703 [GRCh38]
Chr15:68502041 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.706T>G (p.Phe236Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000702414]|not provided [RCV000187102] Chr15:68208370 [GRCh38]
Chr15:68500708 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.809T>C (p.Leu270Pro) single nucleotide variant not provided [RCV000187107] Chr15:68208267 [GRCh38]
Chr15:68500605 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.4G>A (p.Glu2Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002513991]|not provided [RCV000187117] Chr15:68229581 [GRCh38]
Chr15:68521919 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.99C>T (p.Ser33=) single nucleotide variant Inborn genetic diseases [RCV002381625]|Neuronal ceroid lipofuscinosis [RCV000863261] Chr15:68218635 [GRCh38]
Chr15:68510973 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.100G>A (p.Ala34Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632687]|not provided [RCV000727122] Chr15:68218634 [GRCh38]
Chr15:68510972 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.116G>A (p.Arg39His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000456247]|not specified [RCV000187080] Chr15:68218618 [GRCh38]
Chr15:68510956 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.270C>T (p.Asn90=) single nucleotide variant Inborn genetic diseases [RCV002311262]|Neuronal ceroid lipofuscinosis [RCV001085180]|not provided [RCV000725138]|not specified [RCV000187081] Chr15:68214317 [GRCh38]
Chr15:68506655 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.799G>A (p.Ala267Thr) single nucleotide variant Inborn genetic diseases [RCV002415804]|Neuronal ceroid lipofuscinosis [RCV002513989]|not provided [RCV001704977] Chr15:68208277 [GRCh38]
Chr15:68500615 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002517849]|not provided [RCV000187089] Chr15:68218598 [GRCh38]
Chr15:68510936 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.255C>G (p.Phe85Leu) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002478654]|Neuronal ceroid lipofuscinosis [RCV001118064]|not provided [RCV000187090] Chr15:68214332 [GRCh38]
Chr15:68506670 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.357C>G (p.Ile119Met) single nucleotide variant not provided [RCV000187096] Chr15:68211804 [GRCh38]
Chr15:68504142 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.363C>G (p.Ile121Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002517852]|not provided [RCV000187097] Chr15:68211798 [GRCh38]
Chr15:68504136 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000665630]|Ceroid lipofuscinosis, neuronal, 6A [RCV002478655]|Neuronal ceroid lipofuscinosis [RCV000803026]|not provided [RCV000187103]|not specified [RCV002282022] Chr15:68208348 [GRCh38]
Chr15:68500686 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.749G>A (p.Arg250His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000544507]|not provided [RCV000187104] Chr15:68208327 [GRCh38]
Chr15:68500665 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.755G>A (p.Arg252His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000671648]|Inborn genetic diseases [RCV002390489]|Neuronal ceroid lipofuscinosis [RCV001083020]|not provided [RCV000187105] Chr15:68208321 [GRCh38]
Chr15:68500659 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001037728]|not provided [RCV000187106] Chr15:68208309 [GRCh38]
Chr15:68500647 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000664477]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001731421]|Inborn genetic diseases [RCV002311263]|Neuronal ceroid lipofuscinosis [RCV001082320]|not provided [RCV000187109] Chr15:68229580 [GRCh38]
Chr15:68521918 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000664742]|Inborn genetic diseases [RCV002317081]|Neuronal ceroid lipofuscinosis [RCV001085897]|not provided [RCV000187110]|not specified [RCV002228805] Chr15:68229536 [GRCh38]
Chr15:68521874 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.64G>A (p.Ala22Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000813039]|not provided [RCV000187112] Chr15:68229521 [GRCh38]
Chr15:68521859 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000803649]|not provided [RCV000187115]|not specified [RCV001804924] Chr15:68214309 [GRCh38]
Chr15:68506647 [GRCh37]
Chr15:15q23
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.886G>A (p.Val296Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001939244] Chr15:68208190 [GRCh38]
Chr15:68500528 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.198+1G>A single nucleotide variant not provided [RCV000255264] Chr15:68218535 [GRCh38]
Chr15:68510873 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.775G>C (p.Gly259Arg) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000203548] Chr15:68208301 [GRCh38]
Chr15:68500639 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.61_62insCGG (p.Leu20_Gly21insAla) insertion Neuronal ceroid lipofuscinosis [RCV000232065] Chr15:68229523..68229524 [GRCh38]
Chr15:68521861..68521862 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000625778]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002248826]|Neuronal ceroid lipofuscinosis [RCV001868157]|not provided [RCV001091348] Chr15:68211685 [GRCh38]
Chr15:68504023 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000670264]|Neuronal ceroid lipofuscinosis [RCV000689116] Chr15:68218550 [GRCh38]
Chr15:68510888 [GRCh37]
Chr15:15q23
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_017882.3(CLN6):c.*1103G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000284985] Chr15:68207037 [GRCh38]
Chr15:68499375 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.487-12T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000304343]|not specified [RCV000440941] Chr15:68211330 [GRCh38]
Chr15:68503668 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.*470C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000269401] Chr15:68207670 [GRCh38]
Chr15:68500008 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*646C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000275390] Chr15:68207494 [GRCh38]
Chr15:68499832 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.259A>G (p.Met87Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000526973]|not provided [RCV001729529] Chr15:68214328 [GRCh38]
Chr15:68506666 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*690A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000315476] Chr15:68207450 [GRCh38]
Chr15:68499788 [GRCh37]
Chr15:15q23
benign|likely benign
NM_017882.3(CLN6):c.-108G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000387273] Chr15:68229692 [GRCh38]
Chr15:68522030 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.42C>A (p.Gly14=) single nucleotide variant Inborn genetic diseases [RCV002328829]|Neuronal ceroid lipofuscinosis [RCV000863139]|not provided [RCV001653555] Chr15:68229543 [GRCh38]
Chr15:68521881 [GRCh37]
Chr15:15q23
benign|likely benign|uncertain significance
NM_017882.3(CLN6):c.*1015T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000340027] Chr15:68207125 [GRCh38]
Chr15:68499463 [GRCh37]
Chr15:15q23
benign|likely benign
NM_017882.3(CLN6):c.*175C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000281114] Chr15:68207965 [GRCh38]
Chr15:68500303 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.298-15C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000321713]|not specified [RCV000428295] Chr15:68211878 [GRCh38]
Chr15:68504216 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.*667G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000367710] Chr15:68207473 [GRCh38]
Chr15:68499811 [GRCh37]
Chr15:15q23
benign|uncertain significance
NM_017882.3(CLN6):c.*934G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000392171] Chr15:68207206 [GRCh38]
Chr15:68499544 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.*725C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000392200] Chr15:68207415 [GRCh38]
Chr15:68499753 [GRCh37]
Chr15:15q23
benign|uncertain significance
NM_017882.3(CLN6):c.*131G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000392696] Chr15:68208009 [GRCh38]
Chr15:68500347 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*141GT[13] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000279536]|not provided [RCV001709592] Chr15:68207979..68207980 [GRCh38]
Chr15:68500317..68500318 [GRCh37]
Chr15:15q23
benign|likely benign
NM_017882.3(CLN6):c.*141GT[8] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000350982]|not provided [RCV001597079] Chr15:68207980..68207983 [GRCh38]
Chr15:68500318..68500321 [GRCh37]
Chr15:15q23
benign|uncertain significance
NM_017882.3(CLN6):c.*141GT[11] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000338546]|not provided [RCV001653554] Chr15:68207979..68207980 [GRCh38]
Chr15:68500317..68500318 [GRCh37]
Chr15:15q23
benign|conflicting interpretations of pathogenicity
NM_017882.3(CLN6):c.62G>T (p.Gly21Val) single nucleotide variant not provided [RCV000354306] Chr15:68229523 [GRCh38]
Chr15:68521861 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*140_*143del deletion Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000311359] Chr15:68207997..68208000 [GRCh38]
Chr15:68500335..68500338 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*817C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000355138] Chr15:68207323 [GRCh38]
Chr15:68499661 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.*141GT[12] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000390333]|not provided [RCV001582955] Chr15:68207979..68207980 [GRCh38]
Chr15:68500317..68500318 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.213C>G (p.Leu71=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000867995]|not specified [RCV000424102] Chr15:68214374 [GRCh38]
Chr15:68506712 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.*69G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000362653] Chr15:68208071 [GRCh38]
Chr15:68500409 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.58C>T (p.Leu20=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001452369]|not provided [RCV000370051] Chr15:68229527 [GRCh38]
Chr15:68521865 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.896C>A (p.Pro299His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001572615] Chr15:68208180 [GRCh38]
Chr15:68500518 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.*141GT[9] microsatellite not provided [RCV001565605] Chr15:68207980..68207981 [GRCh38]
Chr15:68500318..68500319 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del) microsatellite Ceroid lipofuscinosis, neuronal, 6A [RCV000674466]|Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000361420] Chr15:68211804..68211806 [GRCh38]
Chr15:68504142..68504144 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.2(CLN6):c.*1157A>G single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000328369] Chr15:68206983 [GRCh38]
Chr15:68499321 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.*526A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000366535] Chr15:68207614 [GRCh38]
Chr15:68499952 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.-22C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000348828] Chr15:68229606 [GRCh38]
Chr15:68521944 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*132C>T single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000368410] Chr15:68208008 [GRCh38]
Chr15:68500346 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*224T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000321098] Chr15:68207916 [GRCh38]
Chr15:68500254 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.2(CLN6):c.-178_-169delTCCGCTCCGC microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000366728]|not provided [RCV001662361] Chr15:68229753..68229762 [GRCh38]
Chr15:68522091..68522100 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.*246G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000286892] Chr15:68207894 [GRCh38]
Chr15:68500232 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*887G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000297997] Chr15:68207253 [GRCh38]
Chr15:68499591 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*88G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000309753] Chr15:68208052 [GRCh38]
Chr15:68500390 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.487-20C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003105982]|not specified [RCV000604861] Chr15:68211338 [GRCh38]
Chr15:68503676 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.*300C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000326841] Chr15:68207840 [GRCh38]
Chr15:68500178 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*179G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000378029] Chr15:68207961 [GRCh38]
Chr15:68500299 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*532T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000328252] Chr15:68207608 [GRCh38]
Chr15:68499946 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*264T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000379154] Chr15:68207876 [GRCh38]
Chr15:68500214 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.486+8C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001433372]|not specified [RCV000607118] Chr15:68211667 [GRCh38]
Chr15:68504005 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.36G>A (p.Ala12=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001478203]|not provided [RCV000592887] Chr15:68229549 [GRCh38]
Chr15:68521887 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.119C>T (p.Thr40Met) single nucleotide variant Inborn genetic diseases [RCV002523939]|Neuronal ceroid lipofuscinosis [RCV000801841]|not provided [RCV003144248]|not specified [RCV000414428] Chr15:68218615 [GRCh38]
Chr15:68510953 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000665418]|Neuronal ceroid lipofuscinosis [RCV000534403]|not provided [RCV000675966]|not specified [RCV003330752] Chr15:68229572 [GRCh38]
Chr15:68521910 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_017882.3(CLN6):c.721A>G (p.Met241Val) single nucleotide variant not provided [RCV000731367] Chr15:68208355 [GRCh38]
Chr15:68500693 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000675067]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002248651]|Neuronal ceroid lipofuscinosis [RCV001865306]|not provided [RCV000416280] Chr15:68208178 [GRCh38]
Chr15:68500516 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.571A>G (p.Met191Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000555659] Chr15:68209731 [GRCh38]
Chr15:68502069 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.798C>T (p.Phe266=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001082640]|not provided [RCV000730801] Chr15:68208278 [GRCh38]
Chr15:68500616 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.407G>A (p.Arg136His) single nucleotide variant Abnormal brain morphology [RCV000454168]|Ceroid lipofuscinosis, neuronal, 6A [RCV003224283]|Neuronal ceroid lipofuscinosis [RCV001379796]|not specified [RCV000499595] Chr15:68211754 [GRCh38]
Chr15:68504092 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
NM_017882.3(CLN6):c.135C>T (p.Leu45=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000528647]|not specified [RCV000441844] Chr15:68218599 [GRCh38]
Chr15:68510937 [GRCh37]
Chr15:15q23
benign|likely benign
NM_017882.3(CLN6):c.-29G>T single nucleotide variant not specified [RCV000424668] Chr15:68229613 [GRCh38]
Chr15:68521951 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.167G>A (p.Trp56Ter) single nucleotide variant not provided [RCV000420815] Chr15:68218567 [GRCh38]
Chr15:68510905 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.810C>G (p.Leu270=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001448825]|not specified [RCV000421676] Chr15:68208266 [GRCh38]
Chr15:68500604 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.487-13G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002062324]|not specified [RCV000435892] Chr15:68211331 [GRCh38]
Chr15:68503669 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.682G>A (p.Gly228Ser) single nucleotide variant not provided [RCV000427343] Chr15:68208394 [GRCh38]
Chr15:68500732 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.873G>A (p.Pro291=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001477671]|not specified [RCV000443359] Chr15:68208203 [GRCh38]
Chr15:68500541 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.477G>A (p.Pro159=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000863316]|not provided [RCV003326425]|not specified [RCV000443471] Chr15:68211684 [GRCh38]
Chr15:68504022 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.-37C>T single nucleotide variant not specified [RCV000429797] Chr15:68229621 [GRCh38]
Chr15:68521959 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.43G>T (p.Gly15Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001052469]|not provided [RCV000433075] Chr15:68229542 [GRCh38]
Chr15:68521880 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.-27C>A single nucleotide variant not specified [RCV000426381] Chr15:68229611 [GRCh38]
Chr15:68521949 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.89G>C (p.Gly30Ala) single nucleotide variant not specified [RCV000429959] Chr15:68218645 [GRCh38]
Chr15:68510983 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.741C>T (p.His247=) single nucleotide variant Inborn genetic diseases [RCV002379318]|Neuronal ceroid lipofuscinosis [RCV000867761]|not provided [RCV001703643] Chr15:68208335 [GRCh38]
Chr15:68500673 [GRCh37]
Chr15:15q23
likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_017882.3(CLN6):c.840G>A (p.Leu280=) single nucleotide variant Inborn genetic diseases [RCV002313223]|Neuronal ceroid lipofuscinosis [RCV001085758]|not provided [RCV000675960] Chr15:68208236 [GRCh38]
Chr15:68500574 [GRCh37]
Chr15:15q23
benign|likely benign
NM_017882.3(CLN6):c.329G>A (p.Arg110His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000470949] Chr15:68211832 [GRCh38]
Chr15:68504170 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.912C>T (p.Thr304=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000474767] Chr15:68208164 [GRCh38]
Chr15:68500502 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.396T>C (p.Ser132=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000474492] Chr15:68211765 [GRCh38]
Chr15:68504103 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+14dup duplication Neuronal ceroid lipofuscinosis [RCV002056734]|not specified [RCV000480074] Chr15:68229484..68229485 [GRCh38]
Chr15:68521822..68521823 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.821C>T (p.Ala274Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000809032]|not provided [RCV000480075] Chr15:68208255 [GRCh38]
Chr15:68500593 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.718G>A (p.Ala240Thr) single nucleotide variant Inborn genetic diseases [RCV002376874]|Neuronal ceroid lipofuscinosis [RCV000529770]|not provided [RCV000480128] Chr15:68208358 [GRCh38]
Chr15:68500696 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.902C>G (p.Ala301Gly) single nucleotide variant not provided [RCV000484478] Chr15:68208174 [GRCh38]
Chr15:68500512 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.797T>C (p.Phe266Ser) single nucleotide variant not provided [RCV000485015] Chr15:68208279 [GRCh38]
Chr15:68500617 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.640G>T (p.Val214Leu) single nucleotide variant not provided [RCV000485231] Chr15:68209662 [GRCh38]
Chr15:68502000 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.84-1G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002525960]|not provided [RCV000484435] Chr15:68218651 [GRCh38]
Chr15:68510989 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.748C>G (p.Arg250Gly) single nucleotide variant not provided [RCV000477996] Chr15:68208328 [GRCh38]
Chr15:68500666 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.581G>T (p.Ser194Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001851229]|not provided [RCV000482656] Chr15:68209721 [GRCh38]
Chr15:68502059 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.11C>T (p.Thr4Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001304989]|not provided [RCV000482919] Chr15:68229574 [GRCh38]
Chr15:68521912 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.625C>T (p.Pro209Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002526577]|not provided [RCV000478612] Chr15:68209677 [GRCh38]
Chr15:68502015 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.563T>C (p.Ile188Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002525914]|not provided [RCV000478824] Chr15:68209739 [GRCh38]
Chr15:68502077 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.564C>A (p.Ile188=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000458522] Chr15:68209738 [GRCh38]
Chr15:68502076 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.722T>C (p.Met241Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001203261]|not provided [RCV000498748] Chr15:68208354 [GRCh38]
Chr15:68500692 [GRCh37]
Chr15:15q23
likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_017882.3(CLN6):c.301A>G (p.Ile101Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002527085]|not provided [RCV000494015] Chr15:68211860 [GRCh38]
Chr15:68504198 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.41G>A (p.Gly14Asp) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000763980]|Neuronal ceroid lipofuscinosis [RCV000703145]|not provided [RCV001566395] Chr15:68229544 [GRCh38]
Chr15:68521882 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.195C>T (p.Ala65=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632758]|not provided [RCV001712727] Chr15:68218539 [GRCh38]
Chr15:68510877 [GRCh37]
Chr15:15q23
benign|likely benign
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) single nucleotide variant Inborn genetic diseases [RCV002431546]|Neuronal ceroid lipofuscinosis [RCV000541719]|not provided [RCV000711262] Chr15:68214316 [GRCh38]
Chr15:68506654 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.543-9C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632731] Chr15:68209768 [GRCh38]
Chr15:68502106 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.522G>A (p.Glu174=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001472824] Chr15:68211283 [GRCh38]
Chr15:68503621 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.733G>A (p.Val245Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632688] Chr15:68208343 [GRCh38]
Chr15:68500681 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.303C>T (p.Ile101=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632761] Chr15:68211858 [GRCh38]
Chr15:68504196 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.774C>T (p.Asn258=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001411832]|not specified [RCV000602188] Chr15:68208302 [GRCh38]
Chr15:68500640 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000678437]|Neuronal ceroid lipofuscinosis [RCV001051368]|not provided [RCV000595470] Chr15:68211854 [GRCh38]
Chr15:68504192 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.666-5T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000555997] Chr15:68208415 [GRCh38]
Chr15:68500753 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000672314]|Neuronal ceroid lipofuscinosis [RCV002532122] Chr15:68208239 [GRCh38]
Chr15:68500577 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.876T>C (p.Gly292=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001418405]|not provided [RCV001718967] Chr15:68208200 [GRCh38]
Chr15:68500538 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002497074]|Neuronal ceroid lipofuscinosis [RCV000559749] Chr15:68208322 [GRCh38]
Chr15:68500660 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.-34G>A single nucleotide variant not specified [RCV000610085] Chr15:68229618 [GRCh38]
Chr15:68521956 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.299T>G (p.Leu100Arg) single nucleotide variant Inborn genetic diseases [RCV000622342]|Neuronal ceroid lipofuscinosis [RCV000696148] Chr15:68211862 [GRCh38]
Chr15:68504200 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.240T>C (p.Ser80=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000863988]|not specified [RCV000610335] Chr15:68214347 [GRCh38]
Chr15:68506685 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.666-20C>T single nucleotide variant not specified [RCV000613547] Chr15:68208430 [GRCh38]
Chr15:68500768 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.918C>T (p.His306=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001412277]|not specified [RCV000613562] Chr15:68208158 [GRCh38]
Chr15:68500496 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.213C>A (p.Leu71=) single nucleotide variant not specified [RCV000610917] Chr15:68214374 [GRCh38]
Chr15:68506712 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.354C>T (p.Ile118=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001402552]|not specified [RCV000610967] Chr15:68211807 [GRCh38]
Chr15:68504145 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.542+8A>G single nucleotide variant not specified [RCV000608533] Chr15:68211255 [GRCh38]
Chr15:68503593 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.90C>T (p.Gly30=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002062831]|not specified [RCV000614069] Chr15:68218644 [GRCh38]
Chr15:68510982 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.-23G>A single nucleotide variant not specified [RCV000611575] Chr15:68229607 [GRCh38]
Chr15:68521945 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.870C>T (p.Tyr290=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002531617]|not specified [RCV000609186] Chr15:68208206 [GRCh38]
Chr15:68500544 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000625854]|Neuronal ceroid lipofuscinosis [RCV000799881] Chr15:68208397 [GRCh38]
Chr15:68500735 [GRCh37]
Chr15:15q23
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.297+113G>C single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000625881] Chr15:68214177 [GRCh38]
Chr15:68506515 [GRCh37]
Chr15:15q23
likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.185G>A (p.Arg62His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000626225]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV003228965]|Neuronal ceroid lipofuscinosis [RCV002529782] Chr15:68218549 [GRCh38]
Chr15:68510887 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.1A>G (p.Met1Val) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000672905] Chr15:68229584 [GRCh38]
Chr15:68521922 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000664548] Chr15:68211718 [GRCh38]
Chr15:68504056 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) microsatellite Ceroid lipofuscinosis, neuronal, 6A [RCV000672641] Chr15:68208288..68208289 [GRCh38]
Chr15:68500626..68500627 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.311C>A (p.Ser104Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001247994]|not provided [RCV000675963] Chr15:68211850 [GRCh38]
Chr15:68504188 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.542+1G>T single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000669509] Chr15:68211262 [GRCh38]
Chr15:68503600 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000671838] Chr15:68208301 [GRCh38]
Chr15:68500639 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000668296]|Neuronal ceroid lipofuscinosis [RCV001349639]|not specified [RCV002509498] Chr15:68211788 [GRCh38]
Chr15:68504126 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.371C>T (p.Ala124Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000691919] Chr15:68211790 [GRCh38]
Chr15:68504128 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000665609] Chr15:68209637 [GRCh38]
Chr15:68501975 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000665887]|Ceroid lipofuscinosis, neuronal, 6A [RCV002485526]|Neuronal ceroid lipofuscinosis [RCV001855448] Chr15:68208180 [GRCh38]
Chr15:68500518 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000672883] Chr15:68208167 [GRCh38]
Chr15:68500505 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000667257] Chr15:68211299 [GRCh38]
Chr15:68503637 [GRCh37]
Chr15:15q23
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_017882.3(CLN6):c.766_770del (p.Asp256fs) deletion Ceroid lipofuscinosis, neuronal, 6A [RCV000673735] Chr15:68208306..68208310 [GRCh38]
Chr15:68500644..68500648 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.486+1G>A single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000671252]|Ceroid lipofuscinosis, neuronal, 6A [RCV002499177]|Inborn genetic diseases [RCV002317912]|Neuronal ceroid lipofuscinosis [RCV001868252] Chr15:68211674 [GRCh38]
Chr15:68504012 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000671374] Chr15:68208374 [GRCh38]
Chr15:68500712 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000671514]|Neuronal ceroid lipofuscinosis [RCV001042017] Chr15:68211296 [GRCh38]
Chr15:68503634 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.83+2T>G single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000666571] Chr15:68229500 [GRCh38]
Chr15:68521838 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000666578]|Neuronal ceroid lipofuscinosis [RCV002530689] Chr15:68209759 [GRCh38]
Chr15:68502097 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) duplication Ceroid lipofuscinosis, neuronal, 6A [RCV000673900]|Neuronal ceroid lipofuscinosis [RCV001861826] Chr15:68211306..68211307 [GRCh38]
Chr15:68503644..68503645 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000692075]|not provided [RCV001756185] Chr15:68218619 [GRCh38]
Chr15:68510957 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.198+104T>C single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000678438]|not provided [RCV001530857] Chr15:68218432 [GRCh38]
Chr15:68510770 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.552dup (p.Phe185fs) duplication Ceroid lipofuscinosis, neuronal, 6A [RCV000678440] Chr15:68209749..68209750 [GRCh38]
Chr15:68502087..68502088 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000678441]|Neuronal ceroid lipofuscinosis [RCV001861858] Chr15:68209640 [GRCh38]
Chr15:68501978 [GRCh37]
Chr15:15q23
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000678442] Chr15:68214337 [GRCh38]
Chr15:68506675 [GRCh37]
Chr15:15q23
pathogenic
GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1 copy number loss not provided [RCV000683701] Chr15:66861081..69213575 [GRCh37]
Chr15:15q22.31-23
pathogenic
NM_017882.3(CLN6):c.929G>A (p.Arg310Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000706190] Chr15:68208147 [GRCh38]
Chr15:68500485 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.61G>A (p.Gly21Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000707397] Chr15:68229524 [GRCh38]
Chr15:68521862 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.634C>T (p.Leu212Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000697232] Chr15:68209668 [GRCh38]
Chr15:68502006 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.649A>G (p.Ser217Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000697270] Chr15:68209653 [GRCh38]
Chr15:68501991 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.297+4C>T single nucleotide variant Inborn genetic diseases [RCV002317971]|Neuronal ceroid lipofuscinosis [RCV001066965] Chr15:68214286 [GRCh38]
Chr15:68506624 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV003388596]|Inborn genetic diseases [RCV002317588] Chr15:68211736 [GRCh38]
Chr15:68504074 [GRCh37]
Chr15:15q23
likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001004876]|Neuronal ceroid lipofuscinosis [RCV002549262] Chr15:68209640 [GRCh38]
Chr15:68501978 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.297+158C>T single nucleotide variant not provided [RCV001567427] Chr15:68214132 [GRCh38]
Chr15:68506470 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.*38A>G single nucleotide variant not provided [RCV001539436] Chr15:68208102 [GRCh38]
Chr15:68500440 [GRCh37]
Chr15:15q23
benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_017882.3(CLN6):c.83+225del deletion not provided [RCV001584753] Chr15:68229277 [GRCh38]
Chr15:68521615 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.885C>T (p.Tyr295=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000872271] Chr15:68208191 [GRCh38]
Chr15:68500529 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.296A>G (p.Lys99Arg) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001543159]|Inborn genetic diseases [RCV002568264]|Neuronal ceroid lipofuscinosis [RCV002032545] Chr15:68214291 [GRCh38]
Chr15:68506629 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_017882.3(CLN6):c.83G>A (p.Arg28Lys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV000761549]|Neuronal ceroid lipofuscinosis [RCV003479215] Chr15:68229502 [GRCh38]
Chr15:68521840 [GRCh37]
Chr15:15q23
pathogenic
NC_000015.10:g.68229762A>G single nucleotide variant not provided [RCV001583446] Chr15:68229762 [GRCh38]
Chr15:68522100 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.665+1G>T single nucleotide variant Spastic ataxia [RCV001647223] Chr15:68209636 [GRCh38]
Chr15:68501974 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.487-140G>A single nucleotide variant not provided [RCV001577604] Chr15:68211458 [GRCh38]
Chr15:68503796 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.138C>T (p.Asp46=) single nucleotide variant not provided [RCV000944986] Chr15:68218596 [GRCh38]
Chr15:68510934 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.279G>A (p.Thr93=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000868291] Chr15:68214308 [GRCh38]
Chr15:68506646 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.199-5C>T single nucleotide variant Inborn genetic diseases [RCV002415998]|Neuronal ceroid lipofuscinosis [RCV001084695]|not provided [RCV000864156] Chr15:68214393 [GRCh38]
Chr15:68506731 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.564C>T (p.Ile188=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001463484] Chr15:68209738 [GRCh38]
Chr15:68502076 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.204A>G (p.Val68=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000981987] Chr15:68214383 [GRCh38]
Chr15:68506721 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.84-9C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002539020] Chr15:68218659 [GRCh38]
Chr15:68510997 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.858C>T (p.Leu286=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000981073] Chr15:68208218 [GRCh38]
Chr15:68500556 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.831C>T (p.Val277=) single nucleotide variant Inborn genetic diseases [RCV002427156]|Neuronal ceroid lipofuscinosis [RCV000868299]|not provided [RCV001655622] Chr15:68208245 [GRCh38]
Chr15:68500583 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity
NM_017882.3(CLN6):c.593C>G (p.Thr198Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001036617] Chr15:68209709 [GRCh38]
Chr15:68502047 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.542G>A (p.Trp181Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001042074] Chr15:68211263 [GRCh38]
Chr15:68503601 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.365T>C (p.Met122Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001064623] Chr15:68211796 [GRCh38]
Chr15:68504134 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.553T>G (p.Phe185Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001065760] Chr15:68209749 [GRCh38]
Chr15:68502087 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.653G>T (p.Gly218Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001072046] Chr15:68209649 [GRCh38]
Chr15:68501987 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.759C>G (p.Leu253=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001452538] Chr15:68208317 [GRCh38]
Chr15:68500655 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.93T>C (p.Ser31=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000867409] Chr15:68218641 [GRCh38]
Chr15:68510979 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.487-8T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000863138]|not provided [RCV001692301] Chr15:68211326 [GRCh38]
Chr15:68503664 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.717C>T (p.Phe239=) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002501263]|Neuronal ceroid lipofuscinosis [RCV000866913] Chr15:68208359 [GRCh38]
Chr15:68500697 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.801A>G (p.Ala267=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000936274] Chr15:68208275 [GRCh38]
Chr15:68500613 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.559C>T (p.Leu187Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000815648] Chr15:68209743 [GRCh38]
Chr15:68502081 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002249523]|Neuronal ceroid lipofuscinosis [RCV000813418]|not provided [RCV003145176] Chr15:68211755 [GRCh38]
Chr15:68504093 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NC_000015.10:g.(?_68229492)_(68229594_?)del deletion Neuronal ceroid lipofuscinosis [RCV000823950] Chr15:68229492..68229594 [GRCh38]
Chr15:68521830..68521932 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.83+35C>G single nucleotide variant not provided [RCV000832482] Chr15:68229467 [GRCh38]
Chr15:68521805 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.486+51C>T single nucleotide variant not provided [RCV000832483] Chr15:68211624 [GRCh38]
Chr15:68503962 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.850C>T (p.Pro284Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000821882]|not provided [RCV001580550] Chr15:68208226 [GRCh38]
Chr15:68500564 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.198+181A>G single nucleotide variant not provided [RCV000836983] Chr15:68218355 [GRCh38]
Chr15:68510693 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.665+265G>A single nucleotide variant not provided [RCV000826873] Chr15:68209372 [GRCh38]
Chr15:68501710 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.583G>A (p.Gly195Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000822586]|not provided [RCV001759618] Chr15:68209719 [GRCh38]
Chr15:68502057 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.224C>T (p.Pro75Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000815028] Chr15:68214363 [GRCh38]
Chr15:68506701 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.684C>A (p.Gly228=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001455752]|not provided [RCV000827421] Chr15:68208392 [GRCh38]
Chr15:68500730 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.*345C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001117961] Chr15:68207795 [GRCh38]
Chr15:68500133 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.199-252A>C single nucleotide variant not provided [RCV000826872] Chr15:68214640 [GRCh38]
Chr15:68506978 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.*75G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001119502] Chr15:68208065 [GRCh38]
Chr15:68500403 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.331T>C (p.Ser111Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000793859] Chr15:68211830 [GRCh38]
Chr15:68504168 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.542+212C>T single nucleotide variant not provided [RCV000836879] Chr15:68211051 [GRCh38]
Chr15:68503389 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.298-168C>T single nucleotide variant not provided [RCV000837203] Chr15:68212031 [GRCh38]
Chr15:68504369 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.763C>T (p.Leu255=) single nucleotide variant Inborn genetic diseases [RCV002390878]|Neuronal ceroid lipofuscinosis [RCV001501377]|not provided [RCV000895302] Chr15:68208313 [GRCh38]
Chr15:68500651 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.494C>T (p.Ser165Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000819094] Chr15:68211311 [GRCh38]
Chr15:68503649 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.507C>T (p.Leu169=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001481924] Chr15:68211298 [GRCh38]
Chr15:68503636 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.924C>T (p.Ser308=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000920297] Chr15:68208152 [GRCh38]
Chr15:68500490 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.678C>T (p.Thr226=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001083700]|not provided [RCV000842201] Chr15:68208398 [GRCh38]
Chr15:68500736 [GRCh37]
Chr15:15q23
likely benign
NC_000015.10:g.(?_68229482)_(68229604_?)del deletion Neuronal ceroid lipofuscinosis [RCV000807236] Chr15:68229482..68229604 [GRCh38]
Chr15:68521820..68521942 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.199-70G>A single nucleotide variant not provided [RCV000832775] Chr15:68214458 [GRCh38]
Chr15:68506796 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.84-81C>T single nucleotide variant not provided [RCV000832783] Chr15:68218731 [GRCh38]
Chr15:68511069 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.487-39C>T single nucleotide variant not provided [RCV000832784] Chr15:68211357 [GRCh38]
Chr15:68503695 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.298-248G>A single nucleotide variant not provided [RCV000839630] Chr15:68212111 [GRCh38]
Chr15:68504449 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.298-196A>G single nucleotide variant not provided [RCV000839631] Chr15:68212059 [GRCh38]
Chr15:68504397 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.*655C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001116510] Chr15:68207485 [GRCh38]
Chr15:68499823 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+7G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001473774] Chr15:68229495 [GRCh38]
Chr15:68521833 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.730C>G (p.Leu244Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001209232] Chr15:68208346 [GRCh38]
Chr15:68500684 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.328C>T (p.Arg110Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001243639]|not provided [RCV001507885] Chr15:68211833 [GRCh38]
Chr15:68504171 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.14G>A (p.Arg5Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001212497] Chr15:68229571 [GRCh38]
Chr15:68521909 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.837del (p.Trp279fs) deletion Neuronal ceroid lipofuscinosis [RCV000989351] Chr15:68208239 [GRCh38]
Chr15:68500577 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.32G>C (p.Gly11Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001226452] Chr15:68229553 [GRCh38]
Chr15:68521891 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.704T>A (p.Ile235Asn) single nucleotide variant Inborn genetic diseases [RCV002366022]|Neuronal ceroid lipofuscinosis [RCV001227754] Chr15:68208372 [GRCh38]
Chr15:68500710 [GRCh37]
Chr15:15q23
uncertain significance
GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1 copy number loss not provided [RCV000846047] Chr15:67369118..70481307 [GRCh37]
Chr15:15q22.33-23
pathogenic
NM_017882.3(CLN6):c.487-3C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121505] Chr15:68211321 [GRCh38]
Chr15:68503659 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*284C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001117963] Chr15:68207856 [GRCh38]
Chr15:68500194 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.124C>T (p.Pro42Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001118065] Chr15:68218610 [GRCh38]
Chr15:68510948 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*446C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001116512] Chr15:68207694 [GRCh38]
Chr15:68500032 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*1109G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001119416] Chr15:68207031 [GRCh38]
Chr15:68499369 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.205T>C (p.Phe69Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001241808] Chr15:68214382 [GRCh38]
Chr15:68506720 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.298-346G>T single nucleotide variant not provided [RCV003126359] Chr15:68212209 [GRCh38]
Chr15:68504547 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.542+165C>T single nucleotide variant not provided [RCV001546742] Chr15:68211098 [GRCh38]
Chr15:68503436 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.*141GT[14] microsatellite not provided [RCV001555321] Chr15:68207979..68207980 [GRCh38]
Chr15:68500317..68500318 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.*30T>G single nucleotide variant not provided [RCV001583942] Chr15:68208110 [GRCh38]
Chr15:68500448 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+188_83+191del microsatellite not provided [RCV001594195] Chr15:68229311..68229314 [GRCh38]
Chr15:68521649..68521652 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.103G>A (p.Asp35Asn) single nucleotide variant Inborn genetic diseases [RCV002388586]|Neuronal ceroid lipofuscinosis [RCV002032586]|not provided [RCV001551476] Chr15:68218631 [GRCh38]
Chr15:68510969 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.567C>T (p.Leu189=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000930242] Chr15:68209735 [GRCh38]
Chr15:68502073 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.636C>T (p.Leu212=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001440313] Chr15:68209666 [GRCh38]
Chr15:68502004 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.489C>T (p.Ile163=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000873003] Chr15:68211316 [GRCh38]
Chr15:68503654 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.555C>T (p.Phe185=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001437303] Chr15:68209747 [GRCh38]
Chr15:68502085 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.441T>G (p.Ser147=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001430079] Chr15:68211720 [GRCh38]
Chr15:68504058 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.552C>T (p.Pro184=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001482836] Chr15:68209750 [GRCh38]
Chr15:68502088 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.84-8C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000937320] Chr15:68218658 [GRCh38]
Chr15:68510996 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.666-3C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121503] Chr15:68208413 [GRCh38]
Chr15:68500751 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.10:g.(?_68208120)_(68229604_?)del deletion Neuronal ceroid lipofuscinosis [RCV001033599] Chr15:68500458..68521942 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.-101A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121604] Chr15:68229685 [GRCh38]
Chr15:68522023 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.214G>A (p.Glu72Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001238918]|not provided [RCV001788430] Chr15:68214373 [GRCh38]
Chr15:68506711 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.340T>C (p.Tyr114His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001041194] Chr15:68211821 [GRCh38]
Chr15:68504159 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.199-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001043252] Chr15:68214390 [GRCh38]
Chr15:68506728 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.66del (p.Ser23fs) deletion Neuronal ceroid lipofuscinosis [RCV001241844] Chr15:68229519 [GRCh38]
Chr15:68521857 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.161A>G (p.Gln54Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001201747] Chr15:68218573 [GRCh38]
Chr15:68510911 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.919G>T (p.Val307Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001052906] Chr15:68208157 [GRCh38]
Chr15:68500495 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.547A>G (p.Ile183Val) single nucleotide variant Inborn genetic diseases [RCV002348678]|Neuronal ceroid lipofuscinosis [RCV001207661] Chr15:68209755 [GRCh38]
Chr15:68502093 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.13C>A (p.Arg5=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000913085] Chr15:68229572 [GRCh38]
Chr15:68521910 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.829_832del (p.Val277fs) deletion Neuronal ceroid lipofuscinosis [RCV000989352] Chr15:68208244..68208247 [GRCh38]
Chr15:68500582..68500585 [GRCh37]
Chr15:15q23
likely pathogenic|conflicting interpretations of pathogenicity
NM_017882.3(CLN6):c.446G>C (p.Arg149Pro) single nucleotide variant See cases [RCV002253169] Chr15:68211715 [GRCh38]
Chr15:68504053 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.218_220dup (p.Trp73dup) duplication Ceroid lipofuscinosis, neuronal, 6A [RCV001543158] Chr15:68214366..68214367 [GRCh38]
Chr15:68506704..68506705 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.542+33G>A single nucleotide variant not provided [RCV001596661] Chr15:68211230 [GRCh38]
Chr15:68503568 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+188T>C single nucleotide variant not provided [RCV001643375] Chr15:68229314 [GRCh38]
Chr15:68521652 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.666-45C>T single nucleotide variant not provided [RCV001658803] Chr15:68208455 [GRCh38]
Chr15:68500793 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001090115] Chr15:68209643 [GRCh38]
Chr15:68501981 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.119C>A (p.Thr40Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001037601] Chr15:68218615 [GRCh38]
Chr15:68510953 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.115C>G (p.Arg39Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001049806] Chr15:68218619 [GRCh38]
Chr15:68510957 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.-38C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121602]|not provided [RCV001638041] Chr15:68229622 [GRCh38]
Chr15:68521960 [GRCh37]
Chr15:15q23
benign|uncertain significance
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001175262] Chr15:68209715 [GRCh38]
Chr15:68502053 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.83+218G>T single nucleotide variant not provided [RCV001588344] Chr15:68229284 [GRCh38]
Chr15:68521622 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.516T>C (p.Tyr172=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001481030]|not provided [RCV001171901] Chr15:68211289 [GRCh38]
Chr15:68503627 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.346A>G (p.Ser116Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001044353] Chr15:68211815 [GRCh38]
Chr15:68504153 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.469C>A (p.Leu157Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001116618] Chr15:68211692 [GRCh38]
Chr15:68504030 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*393G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001117960]|not provided [RCV001786436] Chr15:68207747 [GRCh38]
Chr15:68500085 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001375037]|Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002246224]|Inborn genetic diseases [RCV002563820]|Neuronal ceroid lipofuscinosis [RCV001235065]|not provided [RCV001561994] Chr15:68208301 [GRCh38]
Chr15:68500639 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.*991C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121406] Chr15:68207149 [GRCh38]
Chr15:68499487 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.597C>G (p.Ala199=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121504] Chr15:68209705 [GRCh38]
Chr15:68502043 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.314C>T (p.Pro105Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001071170] Chr15:68211847 [GRCh38]
Chr15:68504185 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.40G>A (p.Gly14Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001221944] Chr15:68229545 [GRCh38]
Chr15:68521883 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.431A>G (p.His144Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001042065] Chr15:68211730 [GRCh38]
Chr15:68504068 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*749T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121408] Chr15:68207391 [GRCh38]
Chr15:68499729 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.-92C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121603] Chr15:68229676 [GRCh38]
Chr15:68522014 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.355A>G (p.Ile119Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001047547] Chr15:68211806 [GRCh38]
Chr15:68504144 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*312C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001117962] Chr15:68207828 [GRCh38]
Chr15:68500166 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.83+11G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001118066] Chr15:68229491 [GRCh38]
Chr15:68521829 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_017882.3(CLN6):c.*1023G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001119417] Chr15:68207117 [GRCh38]
Chr15:68499455 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*42T>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001119503]|not provided [RCV001619887] Chr15:68208098 [GRCh38]
Chr15:68500436 [GRCh37]
Chr15:15q23
benign|uncertain significance
NM_017882.3(CLN6):c.*882C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121407] Chr15:68207258 [GRCh38]
Chr15:68499596 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*481T>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001116511] Chr15:68207659 [GRCh38]
Chr15:68499997 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.719C>T (p.Ala240Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001121502] Chr15:68208357 [GRCh38]
Chr15:68500695 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.925A>G (p.Ser309Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001221853] Chr15:68208151 [GRCh38]
Chr15:68500489 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.497T>C (p.Phe166Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001222803] Chr15:68211308 [GRCh38]
Chr15:68503646 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.669C>G (p.Tyr223Ter) single nucleotide variant not provided [RCV001254802] Chr15:68208407 [GRCh38]
Chr15:68500745 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001264033] Chr15:68211306 [GRCh38]
Chr15:68503644 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001264034] Chr15:68211734 [GRCh38]
Chr15:68504072 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001264035] Chr15:68214369 [GRCh38]
Chr15:68506707 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) single nucleotide variant Inborn genetic diseases [RCV002377479]|Neuronal ceroid lipofuscinosis [RCV001348542] Chr15:68218640 [GRCh38]
Chr15:68510978 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.317G>A (p.Arg106His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002499607]|Neuronal ceroid lipofuscinosis [RCV001314636] Chr15:68211844 [GRCh38]
Chr15:68504182 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.82A>T (p.Arg28Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001340124] Chr15:68229503 [GRCh38]
Chr15:68521841 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser) single nucleotide variant Neurodevelopmental disorder [RCV001374904] Chr15:68208294 [GRCh38]
Chr15:68500632 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.3G>A (p.Met1Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001316419] Chr15:68229582 [GRCh38]
Chr15:68521920 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.818T>C (p.Val273Ala) single nucleotide variant Neurodevelopmental disorder [RCV001374905] Chr15:68208258 [GRCh38]
Chr15:68500596 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.199C>G (p.Leu67Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001359936] Chr15:68214388 [GRCh38]
Chr15:68506726 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.681G>A (p.Glu227=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001433933] Chr15:68208395 [GRCh38]
Chr15:68500733 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.358T>A (p.Phe120Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001296615] Chr15:68211803 [GRCh38]
Chr15:68504141 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.221T>G (p.Phe74Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001362820] Chr15:68214366 [GRCh38]
Chr15:68506704 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV003388608]|Neuronal ceroid lipofuscinosis [RCV001368706]|not specified [RCV003230664] Chr15:68211850 [GRCh38]
Chr15:68504188 [GRCh37]
Chr15:15q23
likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.828G>T (p.Trp276Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001351050] Chr15:68208248 [GRCh38]
Chr15:68500586 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.360C>A (p.Phe120Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001300500] Chr15:68211801 [GRCh38]
Chr15:68504139 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001330790] Chr15:68211724 [GRCh38]
Chr15:68504062 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001330791] Chr15:68208353 [GRCh38]
Chr15:68500691 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.124C>G (p.Pro42Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001297744] Chr15:68218610 [GRCh38]
Chr15:68510948 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_017882.3(CLN6):c.455C>G (p.Pro152Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001363987] Chr15:68211706 [GRCh38]
Chr15:68504044 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.9:g.(?_68500478)_(68521922_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001352278] Chr15:68500478..68521922 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.506T>A (p.Leu169His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002246295]|Neuronal ceroid lipofuscinosis [RCV001314504] Chr15:68211299 [GRCh38]
Chr15:68503637 [GRCh37]
Chr15:15q23
likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.133C>T (p.Leu45Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001351485] Chr15:68218601 [GRCh38]
Chr15:68510939 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.653G>A (p.Gly218Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001327274] Chr15:68209649 [GRCh38]
Chr15:68501987 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.212T>G (p.Leu71Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001371839] Chr15:68214375 [GRCh38]
Chr15:68506713 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.10:g.68229774_68229793dup duplication not provided [RCV001356179] Chr15:68229767..68229768 [GRCh38]
Chr15:68522105..68522106 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.338C>T (p.Thr113Met) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV002246341]|Neuronal ceroid lipofuscinosis [RCV001365750] Chr15:68211823 [GRCh38]
Chr15:68504161 [GRCh37]
Chr15:15q23
likely pathogenic|uncertain significance
NM_017882.3(CLN6):c.583_596del (p.Gly195fs) deletion Neuronal ceroid lipofuscinosis [RCV001380128] Chr15:68209706..68209719 [GRCh38]
Chr15:68502044..68502057 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.528G>A (p.Leu176=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001495585] Chr15:68211277 [GRCh38]
Chr15:68503615 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.114C>G (p.Ala38=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001499456] Chr15:68218620 [GRCh38]
Chr15:68510958 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.294C>G (p.Leu98=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001405009] Chr15:68214293 [GRCh38]
Chr15:68506631 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.288C>G (p.Leu96=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001430679] Chr15:68214299 [GRCh38]
Chr15:68506637 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.712_713delinsAC (p.Phe238Thr) indel Neuronal ceroid lipofuscinosis [RCV001385145] Chr15:68208363..68208364 [GRCh38]
Chr15:68500701..68500702 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.28C>T (p.Leu10=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001504825] Chr15:68229557 [GRCh38]
Chr15:68521895 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.483G>T (p.Thr161=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001484927] Chr15:68211678 [GRCh38]
Chr15:68504016 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.225A>G (p.Pro75=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001488481] Chr15:68214362 [GRCh38]
Chr15:68506700 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.426C>T (p.Tyr142=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001454767] Chr15:68211735 [GRCh38]
Chr15:68504073 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.665+10C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001496848] Chr15:68209627 [GRCh38]
Chr15:68501965 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.72C>T (p.Phe24=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001459449]|not provided [RCV003394064] Chr15:68229513 [GRCh38]
Chr15:68521851 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.157C>T (p.Leu53=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001503143] Chr15:68218577 [GRCh38]
Chr15:68510915 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.199-4G>A single nucleotide variant Inborn genetic diseases [RCV002567961]|Neuronal ceroid lipofuscinosis [RCV001503429] Chr15:68214392 [GRCh38]
Chr15:68506730 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.252C>T (p.Tyr84=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001466837] Chr15:68214335 [GRCh38]
Chr15:68506673 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.121del (p.Ala41fs) deletion Neuronal ceroid lipofuscinosis [RCV001383632] Chr15:68218613 [GRCh38]
Chr15:68510951 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.21G>A (p.Arg7=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001486047] Chr15:68229564 [GRCh38]
Chr15:68521902 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.15G>A (p.Arg5=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001489997] Chr15:68229570 [GRCh38]
Chr15:68521908 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.519T>C (p.Asp173=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001492098] Chr15:68211286 [GRCh38]
Chr15:68503624 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.27C>T (p.His9=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001435266] Chr15:68229558 [GRCh38]
Chr15:68521896 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.342C>T (p.Tyr114=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001411775] Chr15:68211819 [GRCh38]
Chr15:68504157 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.114C>T (p.Ala38=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001417243] Chr15:68218620 [GRCh38]
Chr15:68510958 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.54G>A (p.Ala18=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001402126] Chr15:68229531 [GRCh38]
Chr15:68521869 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.487-7C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001446515] Chr15:68211325 [GRCh38]
Chr15:68503663 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.894G>A (p.Glu298=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001409835] Chr15:68208182 [GRCh38]
Chr15:68500520 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.724C>T (p.Leu242=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001407702] Chr15:68208352 [GRCh38]
Chr15:68500690 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.768C>G (p.Asp256Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001385144]|not provided [RCV001560278] Chr15:68208308 [GRCh38]
Chr15:68500646 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.345G>A (p.Val115=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001437678] Chr15:68211816 [GRCh38]
Chr15:68504154 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.348C>T (p.Ser116=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001440078] Chr15:68211813 [GRCh38]
Chr15:68504151 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.747G>A (p.Lys249=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001444626] Chr15:68208329 [GRCh38]
Chr15:68500667 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.324G>T (p.Leu108=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001410601] Chr15:68211837 [GRCh38]
Chr15:68504175 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.637C>T (p.Leu213=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001429307] Chr15:68209665 [GRCh38]
Chr15:68502003 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.75G>T (p.Leu25=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001442273] Chr15:68229510 [GRCh38]
Chr15:68521848 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.543-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001377170] Chr15:68209761 [GRCh38]
Chr15:68502099 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.732C>T (p.Leu244=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001436688] Chr15:68208344 [GRCh38]
Chr15:68500682 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.423C>T (p.Gly141=) single nucleotide variant Inborn genetic diseases [RCV002329432]|Neuronal ceroid lipofuscinosis [RCV001404067] Chr15:68211738 [GRCh38]
Chr15:68504076 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.666-14C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001448417] Chr15:68208424 [GRCh38]
Chr15:68500762 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.543-303G>A single nucleotide variant not provided [RCV001590337] Chr15:68210062 [GRCh38]
Chr15:68502400 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.33A>G (p.Gly11=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001478925] Chr15:68229552 [GRCh38]
Chr15:68521890 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.414C>T (p.Leu138=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001457224] Chr15:68211747 [GRCh38]
Chr15:68504085 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.549C>T (p.Ile183=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001499239] Chr15:68209753 [GRCh38]
Chr15:68502091 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.609G>A (p.Glu203=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001458215] Chr15:68209693 [GRCh38]
Chr15:68502031 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.199-84C>T single nucleotide variant not provided [RCV001584688] Chr15:68214472 [GRCh38]
Chr15:68506810 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.159G>A (p.Leu53=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001503874] Chr15:68218575 [GRCh38]
Chr15:68510913 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.462C>T (p.Ile154=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001496998] Chr15:68211699 [GRCh38]
Chr15:68504037 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.343G>A (p.Val115Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001866195]|not provided [RCV001587766] Chr15:68211818 [GRCh38]
Chr15:68504156 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.543-10C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001497721] Chr15:68209769 [GRCh38]
Chr15:68502107 [GRCh37]
Chr15:15q23
likely benign
NC_000015.10:g.68229772A>G single nucleotide variant not provided [RCV001609493] Chr15:68229772 [GRCh38]
Chr15:68522110 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.711C>T (p.Thr237=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001463412] Chr15:68208365 [GRCh38]
Chr15:68500703 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.657G>A (p.Leu219=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001484446] Chr15:68209645 [GRCh38]
Chr15:68501983 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.486+7C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001472173] Chr15:68211668 [GRCh38]
Chr15:68504006 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.228C>T (p.Leu76=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001501890] Chr15:68214359 [GRCh38]
Chr15:68506697 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.60G>A (p.Leu20=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001405531] Chr15:68229525 [GRCh38]
Chr15:68521863 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.534C>T (p.His178=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001479730] Chr15:68211271 [GRCh38]
Chr15:68503609 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.298-8A>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001506812] Chr15:68211871 [GRCh38]
Chr15:68504209 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.487-10C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001458805] Chr15:68211328 [GRCh38]
Chr15:68503666 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.558C>T (p.Phe186=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001478943] Chr15:68209744 [GRCh38]
Chr15:68502082 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.321C>T (p.Thr107=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001463189] Chr15:68211840 [GRCh38]
Chr15:68504178 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.526C>T (p.Leu176=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001467736] Chr15:68211279 [GRCh38]
Chr15:68503617 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.297+9C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001499341] Chr15:68214281 [GRCh38]
Chr15:68506619 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.663C>T (p.Tyr221=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001483513] Chr15:68209639 [GRCh38]
Chr15:68501977 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.16A>C (p.Arg6=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001503832] Chr15:68229569 [GRCh38]
Chr15:68521907 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.486+1G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001377046] Chr15:68211674 [GRCh38]
Chr15:68504012 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.196dup (p.Met66fs) duplication Neuronal ceroid lipofuscinosis [RCV001389553] Chr15:68218537..68218538 [GRCh38]
Chr15:68510875..68510876 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.123T>A (p.Ala41=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001402177] Chr15:68218611 [GRCh38]
Chr15:68510949 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.502C>T (p.Leu168=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001402226] Chr15:68211303 [GRCh38]
Chr15:68503641 [GRCh37]
Chr15:15q23
likely benign
NC_000015.9:g.(?_68500458)_(68504221_?)del deletion Neuronal ceroid lipofuscinosis [RCV001379210] Chr15:68500458..68504221 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.375C>T (p.Ser125=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001393847] Chr15:68211786 [GRCh38]
Chr15:68504124 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.582C>T (p.Ser194=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001398749]|not provided [RCV001550332] Chr15:68209720 [GRCh38]
Chr15:68502058 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.144G>A (p.Trp48Ter) single nucleotide variant not provided [RCV001780516] Chr15:68218590 [GRCh38]
Chr15:68510928 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.875G>A (p.Gly292Asp) single nucleotide variant not provided [RCV001763083] Chr15:68208201 [GRCh38]
Chr15:68500539 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.350T>G (p.Ile117Ser) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6B (Kufs type) [RCV001787284] Chr15:68211811 [GRCh38]
Chr15:68504149 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.622G>C (p.Gly208Arg) single nucleotide variant not provided [RCV001767881] Chr15:68209680 [GRCh38]
Chr15:68502018 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.329G>T (p.Arg110Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001868517]|not provided [RCV001752537] Chr15:68211832 [GRCh38]
Chr15:68504170 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.396dup (p.Val133fs) duplication Abnormality of the nervous system [RCV001814358] Chr15:68211764..68211765 [GRCh38]
Chr15:68504102..68504103 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV001814583] Chr15:68208192 [GRCh38]
Chr15:68500530 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.83+1G>C single nucleotide variant Abnormality of the nervous system [RCV001814357] Chr15:68229501 [GRCh38]
Chr15:68521839 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.224del (p.Pro75fs) deletion Abnormality of the nervous system [RCV001814411] Chr15:68214363 [GRCh38]
Chr15:68506701 [GRCh37]
Chr15:15q23
likely pathogenic
NC_000015.9:g.(?_66161924)_(69018313_?)dup duplication Neuronal ceroid lipofuscinosis [RCV003120802]|not provided [RCV002045713] Chr15:66161924..69018313 [GRCh37]
Chr15:15q22.31-23
uncertain significance|no classifications from unflagged records
NM_017882.3(CLN6):c.623G>A (p.Gly208Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001895857] Chr15:68209679 [GRCh38]
Chr15:68502017 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.269A>T (p.Asn90Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002025511] Chr15:68214318 [GRCh38]
Chr15:68506656 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.210del (p.Leu71fs) deletion Neuronal ceroid lipofuscinosis [RCV001928713] Chr15:68214377 [GRCh38]
Chr15:68506715 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.28C>G (p.Leu10Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001914190] Chr15:68229557 [GRCh38]
Chr15:68521895 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.120G>A (p.Thr40=) single nucleotide variant Inborn genetic diseases [RCV002359384]|Neuronal ceroid lipofuscinosis [RCV001911402] Chr15:68218614 [GRCh38]
Chr15:68510952 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.701T>C (p.Phe234Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001927239]|not provided [RCV003146314] Chr15:68208375 [GRCh38]
Chr15:68500713 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.794C>T (p.Ser265Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001912483] Chr15:68208282 [GRCh38]
Chr15:68500620 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.849C>A (p.Asp283Glu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001965428] Chr15:68208227 [GRCh38]
Chr15:68500565 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.92C>G (p.Ser31Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002023386] Chr15:68218642 [GRCh38]
Chr15:68510980 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.925A>C (p.Ser309Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001926576] Chr15:68208151 [GRCh38]
Chr15:68500489 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.553TTC[1] (p.Phe186del) microsatellite Neuronal ceroid lipofuscinosis [RCV001947267] Chr15:68209744..68209746 [GRCh38]
Chr15:68502082..68502084 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.268A>G (p.Asn90Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002003612] Chr15:68214319 [GRCh38]
Chr15:68506657 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.516TGA[1] (p.Asp173del) microsatellite Neuronal ceroid lipofuscinosis [RCV001910041] Chr15:68211284..68211286 [GRCh38]
Chr15:68503622..68503624 [GRCh37]
Chr15:15q23
uncertain significance
GRCh37/hg19 15q23(chr15:68243109-68780504)x1 copy number loss not provided [RCV001833040] Chr15:68243109..68780504 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.289_290dup (p.Leu97fs) duplication Neuronal ceroid lipofuscinosis [RCV001946772] Chr15:68214296..68214297 [GRCh38]
Chr15:68506634..68506635 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.230A>C (p.Asn77Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001912130] Chr15:68214357 [GRCh38]
Chr15:68506695 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.358_366del (p.Phe120_Met122del) deletion Neuronal ceroid lipofuscinosis [RCV002004639] Chr15:68211795..68211803 [GRCh38]
Chr15:68504133..68504141 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.196A>G (p.Met66Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001963407] Chr15:68218538 [GRCh38]
Chr15:68510876 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.748C>T (p.Arg250Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001934400] Chr15:68208328 [GRCh38]
Chr15:68500666 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.298-1G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001976008] Chr15:68211864 [GRCh38]
Chr15:68504202 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.543-10C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002035185] Chr15:68209769 [GRCh38]
Chr15:68502107 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.57G>C (p.Gln19His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001888826] Chr15:68229528 [GRCh38]
Chr15:68521866 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.667T>C (p.Tyr223His) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001989946] Chr15:68208409 [GRCh38]
Chr15:68500747 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.921_922delinsTC (p.Ser308Arg) indel Neuronal ceroid lipofuscinosis [RCV001991507] Chr15:68208154..68208155 [GRCh38]
Chr15:68500492..68500493 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.397_398del (p.Val133fs) deletion Neuronal ceroid lipofuscinosis [RCV001937197] Chr15:68211763..68211764 [GRCh38]
Chr15:68504101..68504102 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.602A>C (p.Lys201Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002012292] Chr15:68209700 [GRCh38]
Chr15:68502038 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.872C>T (p.Pro291Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001952696] Chr15:68208204 [GRCh38]
Chr15:68500542 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.750C>T (p.Arg250=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001937470] Chr15:68208326 [GRCh38]
Chr15:68500664 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.696C>G (p.Ile232Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001931200] Chr15:68208380 [GRCh38]
Chr15:68500718 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.108G>T (p.Glu36Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001997148] Chr15:68218626 [GRCh38]
Chr15:68510964 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.377T>C (p.Ile126Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002011142] Chr15:68211784 [GRCh38]
Chr15:68504122 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.655del (p.Leu219fs) deletion Neuronal ceroid lipofuscinosis [RCV002035287] Chr15:68209647 [GRCh38]
Chr15:68501985 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.757C>G (p.Leu253Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001955205] Chr15:68208319 [GRCh38]
Chr15:68500657 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.919G>A (p.Val307Ile) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002479509]|Neuronal ceroid lipofuscinosis [RCV001955364] Chr15:68208157 [GRCh38]
Chr15:68500495 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.859A>T (p.Arg287Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001981566] Chr15:68208217 [GRCh38]
Chr15:68500555 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.757C>T (p.Leu253Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002034994] Chr15:68208319 [GRCh38]
Chr15:68500657 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.333C>T (p.Ser111=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002035370] Chr15:68211828 [GRCh38]
Chr15:68504166 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.617T>C (p.Ile206Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001982083] Chr15:68209685 [GRCh38]
Chr15:68502023 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.487-7C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002028160] Chr15:68211325 [GRCh38]
Chr15:68503663 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.149_150insATCCT (p.Tyr50Ter) insertion Neuronal ceroid lipofuscinosis [RCV001932695] Chr15:68218584..68218585 [GRCh38]
Chr15:68510922..68510923 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.666-4C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002125578] Chr15:68208414 [GRCh38]
Chr15:68500752 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.318C>T (p.Arg106=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002126202] Chr15:68211843 [GRCh38]
Chr15:68504181 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.546C>T (p.Tyr182=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002168923] Chr15:68209756 [GRCh38]
Chr15:68502094 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.588C>T (p.Cys196=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002205397] Chr15:68209714 [GRCh38]
Chr15:68502052 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.409C>T (p.Leu137=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002186193] Chr15:68211752 [GRCh38]
Chr15:68504090 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.309G>T (p.Arg103=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002092220] Chr15:68211852 [GRCh38]
Chr15:68504190 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.456C>A (p.Pro152=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002186384] Chr15:68211705 [GRCh38]
Chr15:68504043 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.483G>A (p.Thr161=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002087062] Chr15:68211678 [GRCh38]
Chr15:68504016 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.396T>G (p.Ser132=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002107109] Chr15:68211765 [GRCh38]
Chr15:68504103 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.759C>T (p.Leu253=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002089918] Chr15:68208317 [GRCh38]
Chr15:68500655 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.298-3del deletion Neuronal ceroid lipofuscinosis [RCV002115970] Chr15:68211866 [GRCh38]
Chr15:68504204 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.666-16C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002152975] Chr15:68208426 [GRCh38]
Chr15:68500764 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.804G>T (p.Leu268=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002131221] Chr15:68208272 [GRCh38]
Chr15:68500610 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.678C>G (p.Thr226=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002193729] Chr15:68208398 [GRCh38]
Chr15:68500736 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+10C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002195918] Chr15:68229492 [GRCh38]
Chr15:68521830 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+13C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002112264] Chr15:68229489 [GRCh38]
Chr15:68521827 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.84-3del deletion Neuronal ceroid lipofuscinosis [RCV002087889] Chr15:68218653 [GRCh38]
Chr15:68510991 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.804G>A (p.Leu268=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002205274] Chr15:68208272 [GRCh38]
Chr15:68500610 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.411G>A (p.Leu137=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002129209] Chr15:68211750 [GRCh38]
Chr15:68504088 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.852T>C (p.Pro284=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002075910] Chr15:68208224 [GRCh38]
Chr15:68500562 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.444C>G (p.Val148=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002082512] Chr15:68211717 [GRCh38]
Chr15:68504055 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.487-14C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002100289] Chr15:68211332 [GRCh38]
Chr15:68503670 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.199-19dup duplication Neuronal ceroid lipofuscinosis [RCV002137870] Chr15:68214406..68214407 [GRCh38]
Chr15:68506744..68506745 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.714C>T (p.Phe238=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002164348] Chr15:68208362 [GRCh38]
Chr15:68500700 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.207C>T (p.Phe69=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002162920] Chr15:68214380 [GRCh38]
Chr15:68506718 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.51C>G (p.Gly17=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002101028] Chr15:68229534 [GRCh38]
Chr15:68521872 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+9G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002155697] Chr15:68229493 [GRCh38]
Chr15:68521831 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.528G>C (p.Leu176=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002139445] Chr15:68211277 [GRCh38]
Chr15:68503615 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.199-18C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002119958] Chr15:68214406 [GRCh38]
Chr15:68506744 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.487-19C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002220023] Chr15:68211337 [GRCh38]
Chr15:68503675 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.723G>C (p.Met241Ile) single nucleotide variant Inborn genetic diseases [RCV003162121]|Neuronal ceroid lipofuscinosis [RCV003110441] Chr15:68208353 [GRCh38]
Chr15:68500691 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NC_000015.9:g.(?_68499209)_(68500605_?)del deletion Neuronal ceroid lipofuscinosis [RCV003119807] Chr15:68499209..68500605 [GRCh37]
Chr15:15q23
pathogenic
NC_000015.9:g.(?_68500468)_(68504211_?)del deletion Neuronal ceroid lipofuscinosis [RCV003119808] Chr15:68500468..68504211 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.542+13C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003120070] Chr15:68211250 [GRCh38]
Chr15:68503588 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.486+17C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003121772] Chr15:68211658 [GRCh38]
Chr15:68503996 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.666-5T>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002876779] Chr15:68208415 [GRCh38]
Chr15:68500753 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_017882.3(CLN6):c.83G>C (p.Arg28Thr) single nucleotide variant Inborn genetic diseases [RCV002434906] Chr15:68229502 [GRCh38]
Chr15:68521840 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.158T>G (p.Leu53Arg) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002291316] Chr15:68218576 [GRCh38]
Chr15:68510914 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.866A>G (p.Lys289Arg) single nucleotide variant not provided [RCV002287016] Chr15:68208210 [GRCh38]
Chr15:68500548 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV002465019] Chr15:68214290 [GRCh38]
Chr15:68506628 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.410T>A (p.Leu137Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002303438] Chr15:68211751 [GRCh38]
Chr15:68504089 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs) indel Ceroid lipofuscinosis, neuronal, 6A [RCV002309713] Chr15:68211783..68211784 [GRCh38]
Chr15:68504121..68504122 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.385dup (p.Val129fs) duplication Ceroid lipofuscinosis, neuronal, 6A [RCV002307894] Chr15:68211775..68211776 [GRCh38]
Chr15:68504113..68504114 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.1_11del (p.Met1fs) deletion not provided [RCV002305953] Chr15:68229574..68229584 [GRCh38]
Chr15:68521912..68521922 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.322del (p.Leu108fs) deletion Ceroid lipofuscinosis, neuronal, 6A [RCV002307038] Chr15:68211839 [GRCh38]
Chr15:68504177 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.190A>G (p.Ile64Val) single nucleotide variant Inborn genetic diseases [RCV002408423]|Neuronal ceroid lipofuscinosis [RCV003097343] Chr15:68218544 [GRCh38]
Chr15:68510882 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.707T>C (p.Phe236Ser) single nucleotide variant Inborn genetic diseases [RCV002365131] Chr15:68208369 [GRCh38]
Chr15:68500707 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.486+11C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002615309] Chr15:68211664 [GRCh38]
Chr15:68504002 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.403C>G (p.His135Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002903807] Chr15:68211758 [GRCh38]
Chr15:68504096 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.199-16T>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002904035] Chr15:68214404 [GRCh38]
Chr15:68506742 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.291G>A (p.Leu97=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002819749] Chr15:68214296 [GRCh38]
Chr15:68506634 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.783C>T (p.Phe261=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002991553] Chr15:68208293 [GRCh38]
Chr15:68500631 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.117C>A (p.Arg39=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003017588] Chr15:68218617 [GRCh38]
Chr15:68510955 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.912C>G (p.Thr304=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002755861] Chr15:68208164 [GRCh38]
Chr15:68500502 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.838C>A (p.Leu280Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002991813] Chr15:68208238 [GRCh38]
Chr15:68500576 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.84-4C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003074807] Chr15:68218654 [GRCh38]
Chr15:68510992 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.266_267insAATCCTA (p.Tyr89Ter) insertion Neuronal ceroid lipofuscinosis [RCV002863628] Chr15:68214320..68214321 [GRCh38]
Chr15:68506658..68506659 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.542+16A>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002839332] Chr15:68211247 [GRCh38]
Chr15:68503585 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+14G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003074355] Chr15:68229488 [GRCh38]
Chr15:68521826 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.624G>A (p.Gly208=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002862708] Chr15:68209678 [GRCh38]
Chr15:68502016 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.366G>C (p.Met122Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003017288] Chr15:68211795 [GRCh38]
Chr15:68504133 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.655C>T (p.Leu219=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002735238] Chr15:68209647 [GRCh38]
Chr15:68501985 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.363C>T (p.Ile121=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003079808] Chr15:68211798 [GRCh38]
Chr15:68504136 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.68C>A (p.Ser23Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003039429] Chr15:68229517 [GRCh38]
Chr15:68521855 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.112G>T (p.Ala38Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003002748] Chr15:68218622 [GRCh38]
Chr15:68510960 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.270C>A (p.Asn90Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002820710] Chr15:68214317 [GRCh38]
Chr15:68506655 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.276C>G (p.Ile92Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003003107] Chr15:68214311 [GRCh38]
Chr15:68506649 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.510C>A (p.Tyr170Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003022019] Chr15:68211295 [GRCh38]
Chr15:68503633 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.720C>T (p.Ala240=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003022018] Chr15:68208356 [GRCh38]
Chr15:68500694 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.83+6C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002979369] Chr15:68229496 [GRCh38]
Chr15:68521834 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.565C>T (p.Leu189Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002927685] Chr15:68209737 [GRCh38]
Chr15:68502075 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.928C>T (p.Arg310Trp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002912497] Chr15:68208148 [GRCh38]
Chr15:68500486 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.198+20C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003052864] Chr15:68218516 [GRCh38]
Chr15:68510854 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.219G>A (p.Trp73Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002999989] Chr15:68214368 [GRCh38]
Chr15:68506706 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.400A>C (p.Asn134His) single nucleotide variant Inborn genetic diseases [RCV002822834] Chr15:68211761 [GRCh38]
Chr15:68504099 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.789C>T (p.Phe263=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003077232] Chr15:68208287 [GRCh38]
Chr15:68500625 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.204A>T (p.Val68=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003039083] Chr15:68214383 [GRCh38]
Chr15:68506721 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.146T>A (p.Phe49Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003020373] Chr15:68218588 [GRCh38]
Chr15:68510926 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.501G>A (p.Glu167=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003021398] Chr15:68211304 [GRCh38]
Chr15:68503642 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.486+13C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002622214] Chr15:68211662 [GRCh38]
Chr15:68504000 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.783C>G (p.Phe261Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002885573] Chr15:68208293 [GRCh38]
Chr15:68500631 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.69C>T (p.Ser23=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002590664] Chr15:68229516 [GRCh38]
Chr15:68521854 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.198+5G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002592953] Chr15:68218531 [GRCh38]
Chr15:68510869 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.180_181del (p.Phe60fs) deletion Neuronal ceroid lipofuscinosis [RCV003026180] Chr15:68218553..68218554 [GRCh38]
Chr15:68510891..68510892 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.202G>C (p.Val68Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003043494] Chr15:68214385 [GRCh38]
Chr15:68506723 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.198+3G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003043647] Chr15:68218533 [GRCh38]
Chr15:68510871 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.631C>T (p.Leu211=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002596171] Chr15:68209671 [GRCh38]
Chr15:68502009 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.551C>T (p.Pro184Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003043646] Chr15:68209751 [GRCh38]
Chr15:68502089 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.298-16C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002624153] Chr15:68211879 [GRCh38]
Chr15:68504217 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.822G>T (p.Ala274=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002853100] Chr15:68208254 [GRCh38]
Chr15:68500592 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.199-12T>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002801031] Chr15:68214400 [GRCh38]
Chr15:68506738 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.407del (p.Arg136fs) deletion Neuronal ceroid lipofuscinosis [RCV002958265] Chr15:68211754 [GRCh38]
Chr15:68504092 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.746A>C (p.Lys249Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003005596] Chr15:68208330 [GRCh38]
Chr15:68500668 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.543-8T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002801707] Chr15:68209767 [GRCh38]
Chr15:68502105 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.739del (p.His247fs) deletion Neuronal ceroid lipofuscinosis [RCV003057940] Chr15:68208337 [GRCh38]
Chr15:68500675 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.141C>T (p.Leu47=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003043404] Chr15:68218593 [GRCh38]
Chr15:68510931 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.542+2T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002643509] Chr15:68211261 [GRCh38]
Chr15:68503599 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.81C>T (p.Ala27=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002851007] Chr15:68229504 [GRCh38]
Chr15:68521842 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.525C>T (p.Tyr175=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002643089] Chr15:68211280 [GRCh38]
Chr15:68503618 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.570_572del (p.Phe190_Met191delinsLeu) deletion Neuronal ceroid lipofuscinosis [RCV002828667] Chr15:68209730..68209732 [GRCh38]
Chr15:68502068..68502070 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.827G>A (p.Trp276Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002800775] Chr15:68208249 [GRCh38]
Chr15:68500587 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.195C>A (p.Ala65=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002872087] Chr15:68218539 [GRCh38]
Chr15:68510877 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.316C>G (p.Arg106Gly) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003040162] Chr15:68211845 [GRCh38]
Chr15:68504183 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.60G>C (p.Leu20=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002640683] Chr15:68229525 [GRCh38]
Chr15:68521863 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.9G>A (p.Ala3=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003043129] Chr15:68229576 [GRCh38]
Chr15:68521914 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.665+7G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002642749] Chr15:68209630 [GRCh38]
Chr15:68501968 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.606T>C (p.Ala202=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002958361] Chr15:68209696 [GRCh38]
Chr15:68502034 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.199-6C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003006249] Chr15:68214394 [GRCh38]
Chr15:68506732 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.284T>C (p.Phe95Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003084790] Chr15:68214303 [GRCh38]
Chr15:68506641 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.546del (p.Trp181_Tyr182insTer) deletion Neuronal ceroid lipofuscinosis [RCV002872720] Chr15:68209756 [GRCh38]
Chr15:68502094 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.640G>A (p.Val214Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002720779] Chr15:68209662 [GRCh38]
Chr15:68502000 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.199-12T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002857820] Chr15:68214400 [GRCh38]
Chr15:68506738 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.683G>A (p.Gly228Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002676670] Chr15:68208393 [GRCh38]
Chr15:68500731 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.773A>G (p.Asn258Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002942027] Chr15:68208303 [GRCh38]
Chr15:68500641 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.401A>G (p.Asn134Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002967329] Chr15:68211760 [GRCh38]
Chr15:68504098 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.83+15G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003046750] Chr15:68229487 [GRCh38]
Chr15:68521825 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.412C>T (p.Leu138Phe) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002938229] Chr15:68211749 [GRCh38]
Chr15:68504087 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.9G>C (p.Ala3=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002670936] Chr15:68229576 [GRCh38]
Chr15:68521914 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.84-17G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002899795] Chr15:68218667 [GRCh38]
Chr15:68511005 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.493T>C (p.Ser165Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002933601] Chr15:68211312 [GRCh38]
Chr15:68503650 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.198+17G>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003063508] Chr15:68218519 [GRCh38]
Chr15:68510857 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.132C>T (p.His44=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002899242] Chr15:68218602 [GRCh38]
Chr15:68510940 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.388G>A (p.Gly130Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002672189] Chr15:68211773 [GRCh38]
Chr15:68504111 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.669C>T (p.Tyr223=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003089272] Chr15:68208407 [GRCh38]
Chr15:68500745 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.840G>C (p.Leu280=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003027024] Chr15:68208236 [GRCh38]
Chr15:68500574 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.351C>T (p.Ile117=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003086572] Chr15:68211810 [GRCh38]
Chr15:68504148 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.665+14A>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003030905] Chr15:68209623 [GRCh38]
Chr15:68501961 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.84-18C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003089860] Chr15:68218668 [GRCh38]
Chr15:68511006 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.915del (p.His306fs) deletion Neuronal ceroid lipofuscinosis [RCV003047171] Chr15:68208161 [GRCh38]
Chr15:68500499 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.814C>G (p.Leu272Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003087401] Chr15:68208262 [GRCh38]
Chr15:68500600 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.309G>A (p.Arg103=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003086297] Chr15:68211852 [GRCh38]
Chr15:68504190 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.875G>C (p.Gly292Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003009655] Chr15:68208201 [GRCh38]
Chr15:68500539 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.364A>G (p.Met122Val) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002579230] Chr15:68211797 [GRCh38]
Chr15:68504135 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.486+11C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002835194] Chr15:68211664 [GRCh38]
Chr15:68504002 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.24G>A (p.Gln8=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003044973] Chr15:68229561 [GRCh38]
Chr15:68521899 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.163A>T (p.Asn55Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002833325] Chr15:68218571 [GRCh38]
Chr15:68510909 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.199-6C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002603732] Chr15:68214394 [GRCh38]
Chr15:68506732 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.666-5T>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003049553] Chr15:68208415 [GRCh38]
Chr15:68500753 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.864G>T (p.Lys288Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003071670] Chr15:68208212 [GRCh38]
Chr15:68500550 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.670C>T (p.Leu224=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003051895] Chr15:68208406 [GRCh38]
Chr15:68500744 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.84-17G>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002655059] Chr15:68218667 [GRCh38]
Chr15:68511005 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.471C>G (p.Leu157=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003071794] Chr15:68211690 [GRCh38]
Chr15:68504028 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.135C>A (p.Leu45=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003072618] Chr15:68218599 [GRCh38]
Chr15:68510937 [GRCh37]
Chr15:15q23
likely benign
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1
pathogenic
NM_017882.3(CLN6):c.700T>C (p.Phe234Leu) single nucleotide variant not provided [RCV003145045] Chr15:68208376 [GRCh38]
Chr15:68500714 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.142T>A (p.Trp48Arg) single nucleotide variant not provided [RCV003145046] Chr15:68218592 [GRCh38]
Chr15:68510930 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.843G>C (p.Trp281Cys) single nucleotide variant not provided [RCV003329897] Chr15:68208233 [GRCh38]
Chr15:68500571 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.195dup (p.Met66fs) duplication Ceroid lipofuscinosis, neuronal, 6A [RCV003334470] Chr15:68218538..68218539 [GRCh38]
Chr15:68510876..68510877 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.883T>C (p.Tyr295His) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV003448766] Chr15:68208193 [GRCh38]
Chr15:68500531 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.278C>A (p.Thr93Lys) single nucleotide variant Ceroid lipofuscinosis, neuronal, 6A [RCV003388913] Chr15:68214309 [GRCh38]
Chr15:68506647 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.507CTA[1] (p.Tyr172del) microsatellite not specified [RCV003388365] Chr15:68211293..68211295 [GRCh38]
Chr15:68503631..68503633 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.542+15del deletion Neuronal ceroid lipofuscinosis [RCV003877070] Chr15:68211248 [GRCh38]
Chr15:68503586 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.255C>T (p.Phe85=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003647374] Chr15:68214332 [GRCh38]
Chr15:68506670 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.486+19C>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003879093] Chr15:68211656 [GRCh38]
Chr15:68503994 [GRCh37]
Chr15:15q23
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3551
Count of miRNA genes:951
Interacting mature miRNAs:1200
Transcripts:ENST00000249806, ENST00000418702, ENST00000538696, ENST00000563917, ENST00000564752, ENST00000564846, ENST00000565471, ENST00000566347, ENST00000567060, ENST00000569336
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
CLN6_9860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,499,158 - 68,500,023UniSTSGRCh37
Build 361566,286,212 - 66,287,077RGDNCBI36
Celera1545,384,072 - 45,384,937RGD
HuRef1545,329,872 - 45,330,737UniSTS
WI-11786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,520,384 - 68,520,483UniSTSGRCh37
Build 361566,307,438 - 66,307,537RGDNCBI36
Celera1545,405,289 - 45,405,388RGD
Cytogenetic Map15q23UniSTS
HuRef1545,351,096 - 45,351,195UniSTS
GeneMap99-GB4 RH Map15230.25UniSTS
Whitehead-RH Map15231.4UniSTS
STS-W81097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,499,332 - 68,499,535UniSTSGRCh37
Build 361566,286,386 - 66,286,589RGDNCBI36
Celera1545,384,246 - 45,384,449RGD
Cytogenetic Map15q23UniSTS
HuRef1545,330,046 - 45,330,249UniSTS
GeneMap99-GB4 RH Map15236.33UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2192 1081 1555 459 1511 307 3410 1224 2498 385 1430 1542 169 1 1124 1875 5 2
Low 247 1909 171 165 439 158 947 973 1236 34 30 71 6 80 913 1
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC107871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM149330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA446197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN427564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000249806   ⟹   ENSP00000249806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,206,992 - 68,229,728 (-)Ensembl
RefSeq Acc Id: ENST00000538696   ⟹   ENSP00000445770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,067 - 68,257,106 (-)Ensembl
RefSeq Acc Id: ENST00000563917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,361 - 68,248,393 (-)Ensembl
RefSeq Acc Id: ENST00000564752   ⟹   ENSP00000457822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,327 - 68,229,709 (-)Ensembl
RefSeq Acc Id: ENST00000564846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,213,257 - 68,257,211 (-)Ensembl
RefSeq Acc Id: ENST00000565471   ⟹   ENSP00000457384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,207,630 - 68,229,672 (-)Ensembl
RefSeq Acc Id: ENST00000566347   ⟹   ENSP00000457783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,040 - 68,229,718 (-)Ensembl
RefSeq Acc Id: ENST00000567060   ⟹   ENSP00000454818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,207,933 - 68,229,670 (-)Ensembl
RefSeq Acc Id: ENST00000569336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,218,086 - 68,218,642 (-)Ensembl
RefSeq Acc Id: ENST00000635747   ⟹   ENSP00000490627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,113 - 68,256,997 (-)Ensembl
RefSeq Acc Id: ENST00000635754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,214,168 - 68,215,608 (-)Ensembl
RefSeq Acc Id: ENST00000636020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,213,825 - 68,229,716 (-)Ensembl
RefSeq Acc Id: ENST00000636212   ⟹   ENSP00000489851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,149 - 68,229,713 (-)Ensembl
RefSeq Acc Id: ENST00000636314   ⟹   ENSP00000490295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,209,672 - 68,229,700 (-)Ensembl
RefSeq Acc Id: ENST00000636674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,173 - 68,213,143 (-)Ensembl
RefSeq Acc Id: ENST00000636876   ⟹   ENSP00000489950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,218,566 - 68,257,131 (-)Ensembl
RefSeq Acc Id: ENST00000636964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,207,269 - 68,213,332 (-)Ensembl
RefSeq Acc Id: ENST00000637223   ⟹   ENSP00000490010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,209,703 - 68,257,021 (-)Ensembl
RefSeq Acc Id: ENST00000637329   ⟹   ENSP00000489649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,207,841 - 68,218,644 (-)Ensembl
RefSeq Acc Id: ENST00000637450   ⟹   ENSP00000490204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,186 - 68,229,677 (-)Ensembl
RefSeq Acc Id: ENST00000637494   ⟹   ENSP00000490057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,116 - 68,229,677 (-)Ensembl
RefSeq Acc Id: ENST00000637667   ⟹   ENSP00000489843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,222 - 68,229,703 (-)Ensembl
RefSeq Acc Id: ENST00000637823   ⟹   ENSP00000490011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,184 - 68,229,510 (-)Ensembl
RefSeq Acc Id: ENST00000638076   ⟹   ENSP00000490373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,207,030 - 68,229,742 (-)Ensembl
RefSeq Acc Id: ENST00000638144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1568,208,143 - 68,248,383 (-)Ensembl
RefSeq Acc Id: NM_001411068   ⟹   NP_001397997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,206,992 - 68,257,211 (-)NCBI
T2T-CHM13v2.01566,025,741 - 66,075,904 (-)NCBI
RefSeq Acc Id: NM_017882   ⟹   NP_060352
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,206,992 - 68,229,728 (-)NCBI
GRCh371568,499,330 - 68,522,081 (-)NCBI
Build 361566,286,384 - 66,309,079 (-)NCBI Archive
HuRef1545,330,044 - 45,352,792 (-)ENTREZGENE
CHM1_11568,617,284 - 68,640,038 (-)NCBI
T2T-CHM13v2.01566,025,741 - 66,048,464 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001397997 (Get FASTA)   NCBI Sequence Viewer  
  NP_060352 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10849 (Get FASTA)   NCBI Sequence Viewer  
  AAH13130 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34129 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34130 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34131 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34132 (Get FASTA)   NCBI Sequence Viewer  
  BAA91260 (Get FASTA)   NCBI Sequence Viewer  
  BAB55226 (Get FASTA)   NCBI Sequence Viewer  
  BAC11181 (Get FASTA)   NCBI Sequence Viewer  
  BAF83864 (Get FASTA)   NCBI Sequence Viewer  
  BAG56700 (Get FASTA)   NCBI Sequence Viewer  
  BAG56737 (Get FASTA)   NCBI Sequence Viewer  
  CAG33525 (Get FASTA)   NCBI Sequence Viewer  
  EAW77811 (Get FASTA)   NCBI Sequence Viewer  
  EAW77812 (Get FASTA)   NCBI Sequence Viewer  
  EAW77813 (Get FASTA)   NCBI Sequence Viewer  
  EAW77814 (Get FASTA)   NCBI Sequence Viewer  
  EAW77815 (Get FASTA)   NCBI Sequence Viewer  
  EAW77816 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000249806
  ENSP00000249806.5
  ENSP00000445770
  ENSP00000445770.1
  ENSP00000454818.1
  ENSP00000457384.1
  ENSP00000457783.1
  ENSP00000457822.1
  ENSP00000489649.1
  ENSP00000489843.1
  ENSP00000489851.1
  ENSP00000489950.1
  ENSP00000490010.1
  ENSP00000490011.1
  ENSP00000490057.1
  ENSP00000490204.1
  ENSP00000490295.1
  ENSP00000490373.1
  ENSP00000490627.1
GenBank Protein Q9NWW5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_060352   ⟸   NM_017882
- Peptide Label: isoform 1
- UniProtKB: Q6IAB1 (UniProtKB/Swiss-Prot),   B4DDH6 (UniProtKB/Swiss-Prot),   A8K560 (UniProtKB/Swiss-Prot),   Q96SR0 (UniProtKB/Swiss-Prot),   Q9NWW5 (UniProtKB/Swiss-Prot),   A0A024R601 (UniProtKB/TrEMBL),   A0A0S2Z5G3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000490627   ⟸   ENST00000635747
RefSeq Acc Id: ENSP00000489851   ⟸   ENST00000636212
RefSeq Acc Id: ENSP00000490295   ⟸   ENST00000636314
RefSeq Acc Id: ENSP00000489950   ⟸   ENST00000636876
RefSeq Acc Id: ENSP00000490057   ⟸   ENST00000637494
RefSeq Acc Id: ENSP00000490204   ⟸   ENST00000637450
RefSeq Acc Id: ENSP00000489649   ⟸   ENST00000637329
RefSeq Acc Id: ENSP00000490010   ⟸   ENST00000637223
RefSeq Acc Id: ENSP00000490011   ⟸   ENST00000637823
RefSeq Acc Id: ENSP00000489843   ⟸   ENST00000637667
RefSeq Acc Id: ENSP00000490373   ⟸   ENST00000638076
RefSeq Acc Id: ENSP00000445770   ⟸   ENST00000538696
RefSeq Acc Id: ENSP00000249806   ⟸   ENST00000249806
RefSeq Acc Id: ENSP00000457822   ⟸   ENST00000564752
RefSeq Acc Id: ENSP00000457384   ⟸   ENST00000565471
RefSeq Acc Id: ENSP00000457783   ⟸   ENST00000566347
RefSeq Acc Id: ENSP00000454818   ⟸   ENST00000567060
RefSeq Acc Id: NP_001397997   ⟸   NM_001411068
- Peptide Label: isoform 2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NWW5-F1-model_v2 AlphaFold Q9NWW5 1-311 view protein structure

Promoters
RGD ID:6792184
Promoter ID:HG_KWN:21745
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000257066
Position:
Human AssemblyChrPosition (strand)Source
Build 361566,308,746 - 66,309,547 (-)MPROMDB
RGD ID:7229931
Promoter ID:EPDNEW_H20711
Type:initiation region
Name:CLN6_2
Description:ceroid-lipofuscinosis, neuronal 6, late infantile, variant
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20713  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,208,094 - 68,208,154EPDNEW
RGD ID:7229935
Promoter ID:EPDNEW_H20713
Type:initiation region
Name:CLN6_1
Description:ceroid-lipofuscinosis, neuronal 6, late infantile, variant
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20711  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381568,229,687 - 68,229,747EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2077 AgrOrtholog
COSMIC CLN6 COSMIC
Ensembl Genes ENSG00000128973 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000249806 ENTREZGENE
  ENST00000249806.11 UniProtKB/Swiss-Prot
  ENST00000538696 ENTREZGENE
  ENST00000538696.5 UniProtKB/Swiss-Prot
  ENST00000564752.1 UniProtKB/TrEMBL
  ENST00000565471.6 UniProtKB/TrEMBL
  ENST00000566347.5 UniProtKB/TrEMBL
  ENST00000567060.5 UniProtKB/TrEMBL
  ENST00000635747.1 UniProtKB/TrEMBL
  ENST00000636212.1 UniProtKB/TrEMBL
  ENST00000636314.1 UniProtKB/TrEMBL
  ENST00000636876.1 UniProtKB/TrEMBL
  ENST00000637223.1 UniProtKB/TrEMBL
  ENST00000637329.1 UniProtKB/TrEMBL
  ENST00000637450.1 UniProtKB/TrEMBL
  ENST00000637494.1 UniProtKB/TrEMBL
  ENST00000637667.1 UniProtKB/TrEMBL
  ENST00000637823.1 UniProtKB/TrEMBL
  ENST00000638076.1 UniProtKB/TrEMBL
GTEx ENSG00000128973 GTEx
HGNC ID HGNC:2077 ENTREZGENE
Human Proteome Map CLN6 Human Proteome Map
InterPro CLN6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54982 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54982 ENTREZGENE
OMIM 606725 OMIM
PANTHER CEROID-LIPOFUSCINOSIS NEURONAL PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16244 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CLN6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26604 PharmGKB
UniProt A0A024R601 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5D0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z5G3 ENTREZGENE, UniProtKB/TrEMBL
  A0A1B0GTD3_HUMAN UniProtKB/TrEMBL
  A0A1B0GTU6_HUMAN UniProtKB/TrEMBL
  A0A1B0GTV3_HUMAN UniProtKB/TrEMBL
  A0A1B0GU39_HUMAN UniProtKB/TrEMBL
  A0A1B0GU90_HUMAN UniProtKB/TrEMBL
  A0A1B0GUD2_HUMAN UniProtKB/TrEMBL
  A0A1B0GUQ7_HUMAN UniProtKB/TrEMBL
  A0A1B0GUY3_HUMAN UniProtKB/TrEMBL
  A0A1B0GVR8_HUMAN UniProtKB/TrEMBL
  A8K560 ENTREZGENE
  B4DDH6 ENTREZGENE
  CLN6_HUMAN UniProtKB/Swiss-Prot
  H3BNF1_HUMAN UniProtKB/TrEMBL
  H3BTY4_HUMAN UniProtKB/TrEMBL
  H3BUT1_HUMAN UniProtKB/TrEMBL
  H3BUV4_HUMAN UniProtKB/TrEMBL
  Q6IAB1 ENTREZGENE
  Q96SR0 ENTREZGENE
  Q9NWW5 ENTREZGENE
UniProt Secondary A8K560 UniProtKB/Swiss-Prot
  B4DDH6 UniProtKB/Swiss-Prot
  Q6IAB1 UniProtKB/Swiss-Prot
  Q96SR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 CLN6  CLN6 transmembrane ER protein  CLN6  CLN6, transmembrane ER protein  Symbol and/or name change 5135510 APPROVED
2017-06-06 CLN6  CLN6, transmembrane ER protein  CLN6  ceroid-lipofuscinosis, neuronal 6, late infantile, variant  Symbol and/or name change 5135510 APPROVED