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
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 4A; and neuronal ceroid lipofuscinosis 6.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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; 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
GRCh38.p13 Ensembl1568,206,992 - 68,257,211 (-)EnsemblGRCh38hg38GRCh38
GRCh381568,206,992 - 68,229,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371568,499,330 - 68,522,066 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361566,286,384 - 66,309,079 (-)NCBINCBI36hg18NCBI36
Build 341566,286,385 - 66,309,079NCBI
Celera1545,384,244 - 45,406,985 (-)NCBI
Cytogenetic Map15q23NCBI
HuRef1545,330,044 - 45,352,792 (-)NCBIHuRef
CHM1_11568,617,284 - 68,640,038 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

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:31901039   PMID:31980649   PMID:32171521   PMID:32203420   PMID:32296183  
PMID:32513696   PMID:32597833   PMID:32614325   PMID:32814053   PMID:32877691   PMID:34079125  


Genomics

Comparative Map Data
CLN6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1568,206,992 - 68,257,211 (-)EnsemblGRCh38hg38GRCh38
GRCh381568,206,992 - 68,229,728 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371568,499,330 - 68,522,066 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361566,286,384 - 66,309,079 (-)NCBINCBI36hg18NCBI36
Build 341566,286,385 - 66,309,079NCBI
Celera1545,384,244 - 45,406,985 (-)NCBI
Cytogenetic Map15q23NCBI
HuRef1545,330,044 - 45,352,792 (-)NCBIHuRef
CHM1_11568,617,284 - 68,640,038 (-)NCBICHM1_1
Cln6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39962,746,067 - 62,759,288 (+)NCBIGRCm39mm39
GRCm39 Ensembl962,746,067 - 62,759,288 (+)Ensembl
GRCm38962,838,785 - 62,852,006 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl962,838,785 - 62,852,006 (+)EnsemblGRCm38mm10GRCm38
MGSCv37962,686,594 - 62,699,809 (+)NCBIGRCm37mm9NCBIm37
MGSCv36962,636,793 - 62,650,008 (+)NCBImm8
Celera960,064,132 - 60,077,378 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map933.89NCBI
Cln6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2863,303,356 - 63,318,360 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl867,733,215 - 67,748,172 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0867,733,215 - 67,748,170 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0867,461,962 - 67,476,917 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4866,987,057 - 67,002,013 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11565,425,472 - 65,436,699 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1565,425,472 - 65,985,242 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01547,156,583 - 47,215,805 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.03032,442,020 - 32,459,741 (-)NCBI
UMICH_Zoey_3.13032,370,298 - 32,388,114 (-)NCBI
UNSW_CanFamBas_1.03032,432,245 - 32,450,063 (-)NCBI
UU_Cfam_GSD_1.03032,678,083 - 32,695,922 (-)NCBI
Cln6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640110,222,378 - 110,236,565 (-)NCBI
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 - 166,126,584 (-)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 (+)NCBI
Vero_WHO_p1.0NW_023666048126,190,316 - 126,209,504 (-)NCBI
Cln6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247814,866,896 - 4,879,321 (+)NCBI

Position Markers
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

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.


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_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
  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

Reference Sequences
RefSeq Acc Id: ENST00000249806   ⟹   ENSP00000249806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,206,992 - 68,229,728 (-)Ensembl
RefSeq Acc Id: ENST00000538696   ⟹   ENSP00000445770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,067 - 68,257,106 (-)Ensembl
RefSeq Acc Id: ENST00000563917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,361 - 68,248,393 (-)Ensembl
RefSeq Acc Id: ENST00000564752   ⟹   ENSP00000457822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,327 - 68,229,709 (-)Ensembl
RefSeq Acc Id: ENST00000564846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,213,257 - 68,257,211 (-)Ensembl
RefSeq Acc Id: ENST00000565471   ⟹   ENSP00000457384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,207,630 - 68,229,672 (-)Ensembl
RefSeq Acc Id: ENST00000566347   ⟹   ENSP00000457783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,040 - 68,229,718 (-)Ensembl
RefSeq Acc Id: ENST00000567060   ⟹   ENSP00000454818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,207,933 - 68,229,670 (-)Ensembl
RefSeq Acc Id: ENST00000569336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,218,086 - 68,218,642 (-)Ensembl
RefSeq Acc Id: ENST00000635747   ⟹   ENSP00000490627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,113 - 68,256,997 (-)Ensembl
RefSeq Acc Id: ENST00000635754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,214,168 - 68,215,608 (-)Ensembl
RefSeq Acc Id: ENST00000636020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,213,825 - 68,229,716 (-)Ensembl
RefSeq Acc Id: ENST00000636212   ⟹   ENSP00000489851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,149 - 68,229,713 (-)Ensembl
RefSeq Acc Id: ENST00000636314   ⟹   ENSP00000490295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,209,672 - 68,229,700 (-)Ensembl
RefSeq Acc Id: ENST00000636674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,173 - 68,213,143 (-)Ensembl
RefSeq Acc Id: ENST00000636876   ⟹   ENSP00000489950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,218,566 - 68,257,131 (-)Ensembl
RefSeq Acc Id: ENST00000636964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,207,269 - 68,213,332 (-)Ensembl
RefSeq Acc Id: ENST00000637223   ⟹   ENSP00000490010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,209,703 - 68,257,021 (-)Ensembl
RefSeq Acc Id: ENST00000637329   ⟹   ENSP00000489649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,207,841 - 68,218,644 (-)Ensembl
RefSeq Acc Id: ENST00000637450   ⟹   ENSP00000490204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,186 - 68,229,677 (-)Ensembl
RefSeq Acc Id: ENST00000637494   ⟹   ENSP00000490057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,116 - 68,229,677 (-)Ensembl
RefSeq Acc Id: ENST00000637667   ⟹   ENSP00000489843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,222 - 68,229,703 (-)Ensembl
RefSeq Acc Id: ENST00000637823   ⟹   ENSP00000490011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,184 - 68,229,510 (-)Ensembl
RefSeq Acc Id: ENST00000638076   ⟹   ENSP00000490373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,207,030 - 68,229,742 (-)Ensembl
RefSeq Acc Id: ENST00000638144
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1568,208,143 - 68,248,383 (-)Ensembl
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
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060352   ⟸   NM_017882
- UniProtKB: Q9NWW5 (UniProtKB/Swiss-Prot),   A0A024R601 (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

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

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
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 Neuronal ceroid lipofuscinosis 6 [RCV000004295] Chr15:68229578 [GRCh38]
Chr15:68521916 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.395_396del (p.Ser132fs) microsatellite Neuronal ceroid lipofuscinosis 6 [RCV000004297]|Neuronal ceroid lipofuscinosis [RCV000465745]|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 Neuronal ceroid lipofuscinosis 6 [RCV000004300] Chr15:68211258 [GRCh38]
Chr15:68503596 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.268_271dup (p.Val91fs) duplication Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis 6 [RCV000768186]|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_017882.2(CLN6):c.316dupC (p.Arg106Profs) duplication Neuronal ceroid lipofuscinosis 6 [RCV000004296]|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 Neuronal ceroid lipofuscinosis 6 [RCV000004292]|Neuronal ceroid lipofuscinosis [RCV001067723]|Seizures [RCV000719063]|not provided [RCV000492979] Chr15:68214373 [GRCh38]
Chr15:68506711 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del) microsatellite Neuronal ceroid lipofuscinosis 6 [RCV000004293] Chr15:68211289..68211291 [GRCh38]
Chr15:68503627..68503629 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000004294] Chr15:68211793 [GRCh38]
Chr15:68504131 [GRCh37]
Chr15:15q23
pathogenic
NC_000015.9:g.68504037_68504039delGAT microsatellite Neuronal ceroid lipofuscinosis 6 [RCV000004298]|Neuronal ceroid lipofuscinosis [RCV000989354]|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 Neuronal ceroid lipofuscinosis 6 [RCV000004299] Chr15:68209639 [GRCh38]
Chr15:68501977 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.200T>C (p.Leu67Pro) single nucleotide variant Adult neuronal ceroid lipofuscinosis [RCV000023572]|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 Adult neuronal ceroid lipofuscinosis [RCV000023573]|Neuronal ceroid lipofuscinosis 6 [RCV000675061]|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 Adult neuronal ceroid lipofuscinosis [RCV000023574]|Neuronal ceroid lipofuscinosis 6 [RCV000675107]|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 Adult neuronal ceroid lipofuscinosis [RCV000023575]|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 Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis 6 [RCV000664854]|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 Neuronal ceroid lipofuscinosis 6 [RCV000669748]|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 Neuronal ceroid lipofuscinosis 6 [RCV000667213]|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 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]|Neuronal ceroid lipofuscinosis 6 [RCV000678439]|Neuronal ceroid lipofuscinosis [RCV000228160]|none provided [RCV001281895]|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 not specified [RCV000124336] Chr15:68218668 [GRCh38]
Chr15:68511006 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.282C>A (p.Pro94=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632748]|Seizures [RCV000718844]|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 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|uncertain significance
NM_017882.3(CLN6):c.585C>T (p.Gly195=) single nucleotide variant 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 Neuronal ceroid lipofuscinosis [RCV001079623]|Seizures [RCV000717103]|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 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 Neuronal ceroid lipofuscinosis 6 [RCV000677327]|Neuronal ceroid lipofuscinosis [RCV000989355]|Seizures [RCV000715864]|none provided [RCV001282280]|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 Neuronal ceroid lipofuscinosis 6 [RCV001374417] Chr15:68211291 [GRCh38]
Chr15:68503629 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000515438]|Neuronal ceroid lipofuscinosis [RCV001085594]|Seizures [RCV000718308]|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 Neuronal ceroid lipofuscinosis [RCV000464831]|Seizures [RCV000718973]|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 Neuronal ceroid lipofuscinosis 6 [RCV000515242]|Neuronal ceroid lipofuscinosis [RCV001080133]|Seizures [RCV000716876]|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 Adult neuronal ceroid lipofuscinosis [RCV001258293]|Neuronal ceroid lipofuscinosis [RCV000468908]|Seizures [RCV000717893]|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 Neuronal ceroid lipofuscinosis 6 [RCV000195031]|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 not provided [RCV000187092] Chr15:68214289 [GRCh38]
Chr15:68506627 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000666497]|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 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_017882.2(CLN6):c.599C>G (p.Ser200Cys) single nucleotide variant not specified [RCV000187101] 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 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 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]|not specified [RCV000187079] 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 Neuronal ceroid lipofuscinosis [RCV001085180]|Seizures [RCV000715787]|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 not specified [RCV000187084] Chr15:68208277 [GRCh38]
Chr15:68500615 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.136G>A (p.Asp46Asn) single nucleotide variant 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 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 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 Neuronal ceroid lipofuscinosis 6 [RCV000665630]|Neuronal ceroid lipofuscinosis 6 [RCV000763979]|Neuronal ceroid lipofuscinosis [RCV000803026]|not provided [RCV000187103] 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 Neuronal ceroid lipofuscinosis 6 [RCV000671648]|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|uncertain significance
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000664477]|Neuronal ceroid lipofuscinosis [RCV001082320]|Seizures [RCV000715755]|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 Neuronal ceroid lipofuscinosis 6 [RCV000664742]|Neuronal ceroid lipofuscinosis [RCV001085897]|Seizures [RCV000720755]|not provided [RCV000187110] Chr15:68229536 [GRCh38]
Chr15:68521874 [GRCh37]
Chr15:15q23
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] Chr15:68214309 [GRCh38]
Chr15:68506647 [GRCh37]
Chr15:15q23
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017882.2(CLN6):c.886G>A (p.Val296Ile) single nucleotide variant not specified [RCV000187116] 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 Neuronal ceroid lipofuscinosis 6 [RCV000203548] Chr15:68208301 [GRCh38]
Chr15:68500639 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.61_62insCGG (p.Gly21_Ala22insAla) 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 Neuronal ceroid lipofuscinosis 6 [RCV000625778]|not provided [RCV001091348] Chr15:68211685 [GRCh38]
Chr15:68504023 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000670264]|Neuronal ceroid lipofuscinosis [RCV000689116] Chr15:68218550 [GRCh38]
Chr15:68510888 [GRCh37]
Chr15:15q23
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|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] 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 Neuronal ceroid lipofuscinosis [RCV000863139] Chr15:68229543 [GRCh38]
Chr15:68521881 [GRCh37]
Chr15:15q23
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|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.*141_*142GT[13] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000279536] Chr15:68207979..68207980 [GRCh38]
Chr15:68500317..68500318 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.*141_*142GT[8] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000350982] Chr15:68207980..68207983 [GRCh38]
Chr15:68500318..68500321 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.*141_*142GT[11] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000338546] Chr15:68207979..68207980 [GRCh38]
Chr15:68500317..68500318 [GRCh37]
Chr15:15q23
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.*141_*142GT[12] microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000390333] Chr15:68207979..68207980 [GRCh38]
Chr15:68500317..68500318 [GRCh37]
Chr15:15q23
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.349ATC[2] (p.Ile119del) microsatellite Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000361420]|Neuronal ceroid lipofuscinosis 6 [RCV000674466] 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] 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 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 Neuronal ceroid lipofuscinosis [RCV000801841]|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 Neuronal ceroid lipofuscinosis 6 [RCV000665418]|Neuronal ceroid lipofuscinosis [RCV000534403]|not provided [RCV000675966] Chr15:68229572 [GRCh38]
Chr15:68521910 [GRCh37]
Chr15:15q23
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 Neuronal ceroid lipofuscinosis 6 [RCV000675067]|not provided [RCV000416280] Chr15:68208178 [GRCh38]
Chr15:68500516 [GRCh37]
Chr15:15q23
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 Abnormality of brain morphology [RCV000454168]|Neuronal ceroid lipofuscinosis [RCV001379796]|not specified [RCV000499595] Chr15:68211754 [GRCh38]
Chr15:68504092 [GRCh37]
Chr15:15q23
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 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 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 Neuronal ceroid lipofuscinosis [RCV000867761]|not specified [RCV000441120] 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 Neuronal ceroid lipofuscinosis [RCV001085758]|Seizures [RCV000716877]|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 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 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 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 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 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 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 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 Neuronal ceroid lipofuscinosis 6 [RCV000763980]|Neuronal ceroid lipofuscinosis [RCV000703145] 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] Chr15:68218539 [GRCh38]
Chr15:68510877 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.271G>A (p.Val91Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000541719]|not provided [RCV000711262] Chr15:68214316 [GRCh38]
Chr15:68506654 [GRCh37]
Chr15:15q23
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]|not provided [RCV000632750] 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
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 provided [RCV000979777]|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 Neuronal ceroid lipofuscinosis 6 [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
uncertain significance
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000672314] Chr15:68208239 [GRCh38]
Chr15:68500577 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.876T>C (p.Gly292=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001418405]|not specified [RCV000609463] Chr15:68208200 [GRCh38]
Chr15:68500538 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.754C>T (p.Arg252Cys) single nucleotide variant 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 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 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 Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis 6 [RCV000626225] Chr15:68218549 [GRCh38]
Chr15:68510887 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.1A>G (p.Met1Val) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000672905] Chr15:68229584 [GRCh38]
Chr15:68521922 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000664548] Chr15:68211718 [GRCh38]
Chr15:68504056 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs) microsatellite Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis 6 [RCV000669509] Chr15:68211262 [GRCh38]
Chr15:68503600 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000671838] Chr15:68208301 [GRCh38]
Chr15:68500639 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000668296]|Neuronal ceroid lipofuscinosis [RCV001349639] 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 Neuronal ceroid lipofuscinosis 6 [RCV000665609] Chr15:68209637 [GRCh38]
Chr15:68501975 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000665887] Chr15:68208180 [GRCh38]
Chr15:68500518 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000672883] Chr15:68208167 [GRCh38]
Chr15:68500505 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis 6 [RCV000673735] Chr15:68208306..68208310 [GRCh38]
Chr15:68500644..68500648 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.486+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000671252]|Seizures [RCV000719064] Chr15:68211674 [GRCh38]
Chr15:68504012 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000671374] Chr15:68208374 [GRCh38]
Chr15:68500712 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis 6 [RCV000666571] Chr15:68229500 [GRCh38]
Chr15:68521838 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000666578] Chr15:68209759 [GRCh38]
Chr15:68502097 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.498dup (p.Glu167Ter) duplication Neuronal ceroid lipofuscinosis 6 [RCV000673900] Chr15:68211306..68211307 [GRCh38]
Chr15:68503644..68503645 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.115C>T (p.Arg39Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000692075] Chr15:68218619 [GRCh38]
Chr15:68510957 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.198+104T>C single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000678438] Chr15:68218432 [GRCh38]
Chr15:68510770 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.552dup (p.Phe185fs) duplication Neuronal ceroid lipofuscinosis 6 [RCV000678440] Chr15:68209749..68209750 [GRCh38]
Chr15:68502087..68502088 [GRCh37]
Chr15:15q23
pathogenic
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000678441] 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 Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis [RCV001066965]|Seizures [RCV000718650] Chr15:68214286 [GRCh38]
Chr15:68506624 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys) single nucleotide variant Seizures [RCV000720262] Chr15:68211736 [GRCh38]
Chr15:68504074 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV001004876] Chr15:68209640 [GRCh38]
Chr15:68501978 [GRCh37]
Chr15:15q23
uncertain significance
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.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.83G>A (p.Arg28Lys) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV000761549] Chr15:68229502 [GRCh38]
Chr15:68521840 [GRCh37]
Chr15:15q23
pathogenic
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 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]|not provided [RCV000877293] 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 not provided [RCV000868896] 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 Neuronal ceroid lipofuscinosis [RCV000868299] Chr15:68208245 [GRCh38]
Chr15:68500583 [GRCh37]
Chr15:15q23
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]|not provided [RCV000944470] 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] Chr15:68211326 [GRCh38]
Chr15:68503664 [GRCh37]
Chr15:15q23
benign
NM_017882.3(CLN6):c.717C>T (p.Phe239=) single nucleotide variant 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 Neuronal ceroid lipofuscinosis [RCV000813418] Chr15:68211755 [GRCh38]
Chr15:68504093 [GRCh37]
Chr15:15q23
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] 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] 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 Neuronal ceroid lipofuscinosis [RCV001501377]|not provided [RCV000895302] Chr15:68208313 [GRCh38]
Chr15:68500651 [GRCh37]
Chr15:15q23
likely benign
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]|not provided [RCV000941327] 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]|not provided [RCV000936148] 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 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.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]|not provided [RCV000872998] 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]|not provided [RCV000932550] 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]|not provided [RCV000918720] 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]|not provided [RCV000936913] 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] 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 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.659A>C (p.Tyr220Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [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] Chr15:68229622 [GRCh38]
Chr15:68521960 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.587G>T (p.Cys196Phe) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV001175262] Chr15:68209715 [GRCh38]
Chr15:68502053 [GRCh37]
Chr15:15q23
uncertain significance
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] Chr15:68207747 [GRCh38]
Chr15:68500085 [GRCh37]
Chr15:15q23
likely benign
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV001375037]|Neuronal ceroid lipofuscinosis [RCV001235065] Chr15:68208301 [GRCh38]
Chr15:68500639 [GRCh37]
Chr15:15q23
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
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] Chr15:68208098 [GRCh38]
Chr15:68500436 [GRCh37]
Chr15:15q23
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 Neuronal ceroid lipofuscinosis 6 [RCV001264033] Chr15:68211306 [GRCh38]
Chr15:68503644 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV001264034] Chr15:68211734 [GRCh38]
Chr15:68504072 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [RCV001264035] Chr15:68214369 [GRCh38]
Chr15:68506707 [GRCh37]
Chr15:15q23
likely pathogenic
NM_017882.3(CLN6):c.94G>C (p.Val32Leu) single nucleotide variant 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 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
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 Neuronal ceroid lipofuscinosis [RCV001368706] Chr15:68211850 [GRCh38]
Chr15:68504188 [GRCh37]
Chr15:15q23
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 Neuronal ceroid lipofuscinosis 6 [RCV001330790] Chr15:68211724 [GRCh38]
Chr15:68504062 [GRCh37]
Chr15:15q23
uncertain significance
NM_017882.3(CLN6):c.723G>T (p.Met241Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 6 [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 Neuronal ceroid lipofuscinosis [RCV001314504] Chr15:68211299 [GRCh38]
Chr15:68503637 [GRCh37]
Chr15:15q23
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
Single allele 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 Neuronal ceroid lipofuscinosis [RCV001365750] Chr15:68211823 [GRCh38]
Chr15:68504161 [GRCh37]
Chr15:15q23
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] 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 Neuronal ceroid lipofuscinosis [RCV001503429] Chr15:68214392 [GRCh38]
Chr15:68506730 [GRCh37]
Chr15:15q23
likely benign
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] Chr15:68208308 [GRCh38]
Chr15:68500646 [GRCh37]
Chr15:15q23
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 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.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.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.543-10C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001497721] Chr15:68209769 [GRCh38]
Chr15:68502107 [GRCh37]
Chr15:15q23
likely 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] Chr15:68209720 [GRCh38]
Chr15:68502058 [GRCh37]
Chr15:15q23
likely benign

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 Protein ENSP00000249806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000445770 UniProtKB/Swiss-Prot
  ENSP00000454818 UniProtKB/TrEMBL
  ENSP00000457384 UniProtKB/TrEMBL
  ENSP00000457783 UniProtKB/TrEMBL
  ENSP00000457822 UniProtKB/TrEMBL
  ENSP00000489649 UniProtKB/TrEMBL
  ENSP00000489843 UniProtKB/TrEMBL
  ENSP00000489851 UniProtKB/TrEMBL
  ENSP00000489950 UniProtKB/TrEMBL
  ENSP00000490010 UniProtKB/TrEMBL
  ENSP00000490011 UniProtKB/TrEMBL
  ENSP00000490057 UniProtKB/TrEMBL
  ENSP00000490204 UniProtKB/TrEMBL
  ENSP00000490295 UniProtKB/TrEMBL
  ENSP00000490373 UniProtKB/TrEMBL
  ENSP00000490627 UniProtKB/TrEMBL
Ensembl Transcript ENST00000249806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000538696 UniProtKB/Swiss-Prot
  ENST00000564752 UniProtKB/TrEMBL
  ENST00000565471 UniProtKB/TrEMBL
  ENST00000566347 UniProtKB/TrEMBL
  ENST00000567060 UniProtKB/TrEMBL
  ENST00000635747 UniProtKB/TrEMBL
  ENST00000636212 UniProtKB/TrEMBL
  ENST00000636314 UniProtKB/TrEMBL
  ENST00000636876 UniProtKB/TrEMBL
  ENST00000637223 UniProtKB/TrEMBL
  ENST00000637329 UniProtKB/TrEMBL
  ENST00000637450 UniProtKB/TrEMBL
  ENST00000637494 UniProtKB/TrEMBL
  ENST00000637667 UniProtKB/TrEMBL
  ENST00000637823 UniProtKB/TrEMBL
  ENST00000638076 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 204300 OMIM
  601780 OMIM
  606725 OMIM
PANTHER 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_HUMAN 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
  CLN6_HUMAN UniProtKB/Swiss-Prot
  H3BNF1_HUMAN UniProtKB/TrEMBL
  H3BTY4_HUMAN UniProtKB/TrEMBL
  H3BUT1_HUMAN UniProtKB/TrEMBL
  H3BUV4_HUMAN UniProtKB/TrEMBL
  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