PRDM8 (PR/SET domain 8) - Rat Genome Database

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Gene: PRDM8 (PR/SET domain 8) Homo sapiens
Analyze
Symbol: PRDM8
Name: PR/SET domain 8
RGD ID: 1323184
HGNC Page HGNC:13993
Description: Predicted to enable several functions, including chromatin binding activity; histone H3K9 methyltransferase activity; and transcription corepressor activity. Predicted to be involved in oligodendrocyte development and regulation of DNA-templated transcription. Predicted to act upstream of or within corpus callosum morphogenesis; corticospinal tract morphogenesis; and negative regulation of DNA-templated transcription. Located in nuclear body. Implicated in progressive myoclonus epilepsy 10.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EPM10; KMT8D; PFM5; PR domain 8; PR domain containing 8; PR domain zinc finger protein 8; PR domain-containing protein 8; PR-domain containing protein 8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38480,185,270 - 80,204,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl480,183,879 - 80,204,329 (+)EnsemblGRCh38hg38GRCh38
GRCh37481,106,424 - 81,125,483 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36481,325,448 - 81,344,507 (+)NCBINCBI36Build 36hg18NCBI36
Build 34481,462,617 - 81,482,659NCBI
Celera478,399,921 - 78,418,995 (+)NCBICelera
Cytogenetic Map4q21.21NCBI
HuRef476,850,375 - 76,869,478 (+)NCBIHuRef
CHM1_1481,082,918 - 81,101,978 (+)NCBICHM1_1
T2T-CHM13v2.0483,515,641 - 83,534,739 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nuclear body  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Histone lysine methylation dynamics: establishment, regulation, and biological impact. Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10668202   PMID:12477932   PMID:14675547   PMID:15342556   PMID:15489334   PMID:19430483   PMID:19646955   PMID:21873635   PMID:22284184   PMID:22961547   PMID:24954895   PMID:25963833  
PMID:26023183   PMID:26909595   PMID:27278638   PMID:29572888   PMID:32393512   PMID:32819411  


Genomics

Comparative Map Data
PRDM8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38480,185,270 - 80,204,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl480,183,879 - 80,204,329 (+)EnsemblGRCh38hg38GRCh38
GRCh37481,106,424 - 81,125,483 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36481,325,448 - 81,344,507 (+)NCBINCBI36Build 36hg18NCBI36
Build 34481,462,617 - 81,482,659NCBI
Celera478,399,921 - 78,418,995 (+)NCBICelera
Cytogenetic Map4q21.21NCBI
HuRef476,850,375 - 76,869,478 (+)NCBIHuRef
CHM1_1481,082,918 - 81,101,978 (+)NCBICHM1_1
T2T-CHM13v2.0483,515,641 - 83,534,739 (+)NCBIT2T-CHM13v2.0
Prdm8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39598,315,241 - 98,335,313 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl598,315,057 - 98,336,850 (+)EnsemblGRCm39 Ensembl
GRCm38598,167,203 - 98,187,454 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl598,167,198 - 98,188,991 (+)EnsemblGRCm38mm10GRCm38
MGSCv37598,609,888 - 98,616,467 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36598,421,280 - 98,427,639 (+)NCBIMGSCv36mm8
Celera595,512,228 - 95,518,646 (+)NCBICelera
Cytogenetic Map5E3NCBI
cM Map547.77NCBI
Prdm8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81411,708,477 - 11,728,111 (-)NCBIGRCr8
mRatBN7.21411,403,202 - 11,424,059 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1411,404,407 - 11,410,993 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1411,368,547 - 11,375,146 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01412,668,380 - 12,674,979 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01411,365,871 - 11,372,466 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01413,052,776 - 13,073,583 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1413,054,771 - 13,058,172 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01412,997,401 - 13,016,208 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41412,792,168 - 12,800,272 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11412,794,475 - 12,847,649 (-)NCBI
Celera1411,478,154 - 11,498,957 (-)NCBICelera
Cytogenetic Map14p22NCBI
Prdm8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554334,459,669 - 4,462,928 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554334,443,339 - 4,463,687 (+)NCBIChiLan1.0ChiLan1.0
PRDM8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2349,862,396 - 49,883,002 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1450,050,770 - 50,071,517 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0443,993,635 - 44,014,430 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1449,838,610 - 49,861,862 (-)NCBIpanpan1.1PanPan1.1panPan2
PRDM8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1324,435,693 - 4,451,500 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl324,443,289 - 4,451,036 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3237,429,971 - 37,450,384 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0324,455,166 - 4,475,675 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl324,467,514 - 4,475,233 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1324,507,428 - 4,514,597 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0324,391,796 - 4,412,184 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03235,552,459 - 35,572,911 (-)NCBIUU_Cfam_GSD_1.0
Prdm8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244052857,896,244 - 7,902,942 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367491,820,235 - 1,823,714 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367491,819,491 - 1,827,440 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRDM8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8137,605,600 - 137,612,651 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18137,604,805 - 137,611,389 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28146,777,885 - 146,840,639 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRDM8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1728,610,166 - 28,631,712 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl728,626,265 - 28,629,707 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660377,060,539 - 7,080,848 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prdm8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475710,802,406 - 10,805,704 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475710,801,701 - 10,809,887 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRDM8
400 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001099403.2(PRDM8):c.1050C>T (p.Cys350=) single nucleotide variant Early-onset Lafora body disease [RCV000530522]|PRDM8-related condition [RCV003935539] Chr4:80202512 [GRCh38]
Chr4:81123666 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp) single nucleotide variant Early-onset Lafora body disease [RCV000554454] Chr4:80200106 [GRCh38]
Chr4:81121260 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1726C>T (p.Leu576=) single nucleotide variant Early-onset Lafora body disease [RCV000551781] Chr4:80203188 [GRCh38]
Chr4:81124342 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.1314C>T (p.Ala438=) single nucleotide variant Early-onset Lafora body disease [RCV000529581] Chr4:80202776 [GRCh38]
Chr4:81123930 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1929T>C (p.His643=) single nucleotide variant Early-onset Lafora body disease [RCV001412266] Chr4:80203391 [GRCh38]
Chr4:81124545 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1466G>A (p.Gly489Asp) single nucleotide variant Early-onset Lafora body disease [RCV000542978]|not specified [RCV004024342] Chr4:80202928 [GRCh38]
Chr4:81124082 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del) deletion Early-onset Lafora body disease [RCV000552057] Chr4:80202311..80202322 [GRCh38]
Chr4:81123465..81123476 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1778_1795del (p.Ala593_Ala598del) deletion Early-onset Lafora body disease [RCV000525655]|PRDM8-related condition [RCV003952876] Chr4:80203233..80203250 [GRCh38]
Chr4:81124387..81124404 [GRCh37]
Chr4:4q21.21		 benign|likely benign
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 copy number loss See cases [RCV000050786] Chr4:75453111..84094295 [GRCh38]
Chr4:76378321..85015448 [GRCh37]
Chr4:76597345..85234472 [NCBI36]
Chr4:4q21.1-21.23		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22		 pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1		 pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 copy number loss See cases [RCV000053297] Chr4:79575748..92412449 [GRCh38]
Chr4:80496902..93333600 [GRCh37]
Chr4:80715926..93552623 [NCBI36]
Chr4:4q21.21-22.1		 pathogenic
NM_001099403.1(PRDM8):c.245C>T (p.Ser82Phe) single nucleotide variant Malignant melanoma [RCV000061055] Chr4:80201315 [GRCh38]
Chr4:81122469 [GRCh37]
Chr4:81341493 [NCBI36]
Chr4:4q21.21		 not provided
GRCh38/hg38 4q21.21-21.22(chr4:79742612-83153725)x1 copy number loss See cases [RCV000135797] Chr4:79742612..83153725 [GRCh38]
Chr4:80663766..84074878 [GRCh37]
Chr4:80882790..84293902 [NCBI36]
Chr4:4q21.21-21.22		 uncertain significance
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1 copy number loss See cases [RCV000136865] Chr4:79786514..85832807 [GRCh38]
Chr4:80707668..86753960 [GRCh37]
Chr4:80926692..86972984 [NCBI36]
Chr4:4q21.21-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1 copy number loss See cases [RCV000140416] Chr4:80043949..86948317 [GRCh38]
Chr4:80965103..87869469 [GRCh37]
Chr4:81184127..88088493 [NCBI36]
Chr4:4q21.21-21.3		 pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu) single nucleotide variant Early-onset Lafora body disease [RCV000201931] Chr4:80202243 [GRCh38]
Chr4:81123397 [GRCh37]
Chr4:4q21.21		 pathogenic
NM_001099403.2(PRDM8):c.1137C>A (p.Gly379=) single nucleotide variant Early-onset Lafora body disease [RCV000545415]|PRDM8-related condition [RCV003962603] Chr4:80202599 [GRCh38]
Chr4:81123753 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys) single nucleotide variant Early-onset Lafora body disease [RCV000543916] Chr4:80202829 [GRCh38]
Chr4:81123983 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.722C>A (p.Pro241Gln) single nucleotide variant Early-onset Lafora body disease [RCV000546297] Chr4:80202184 [GRCh38]
Chr4:81123338 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.412C>T (p.Leu138Phe) single nucleotide variant Early-onset Lafora body disease [RCV000528331] Chr4:80201482 [GRCh38]
Chr4:81122636 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1857G>T (p.Leu619=) single nucleotide variant Early-onset Lafora body disease [RCV000550287] Chr4:80203319 [GRCh38]
Chr4:81124473 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.987G>T (p.Leu329=) single nucleotide variant Early-onset Lafora body disease [RCV000530484] Chr4:80202449 [GRCh38]
Chr4:81123603 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.634CAG[7] (p.Gln217dup) microsatellite Early-onset Lafora body disease [RCV000553544] Chr4:80202095..80202096 [GRCh38]
Chr4:81123249..81123250 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys) single nucleotide variant Early-onset Lafora body disease [RCV000528707] Chr4:80203417 [GRCh38]
Chr4:81124571 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1447G>T (p.Ala483Ser) single nucleotide variant Early-onset Lafora body disease [RCV000537191] Chr4:80202909 [GRCh38]
Chr4:81124063 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.1530G>T (p.Gln510His) single nucleotide variant Early-onset Lafora body disease [RCV000558424] Chr4:80202992 [GRCh38]
Chr4:81124146 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1390C>T (p.Pro464Ser) single nucleotide variant Early-onset Lafora body disease [RCV000558723] Chr4:80202852 [GRCh38]
Chr4:81124006 [GRCh37]
Chr4:4q21.21		 benign|uncertain significance
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser) single nucleotide variant Early-onset Lafora body disease [RCV000538637] Chr4:80202084 [GRCh38]
Chr4:81123238 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn) single nucleotide variant Early-onset Lafora body disease [RCV000531399] Chr4:80202149 [GRCh38]
Chr4:81123303 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001099403.2(PRDM8):c.1331C>T (p.Pro444Leu) single nucleotide variant not specified [RCV004293935] Chr4:80202793 [GRCh38]
Chr4:81123947 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1683C>T (p.Ser561=) single nucleotide variant Early-onset Lafora body disease [RCV000536895]|PRDM8-related condition [RCV003980029] Chr4:80203145 [GRCh38]
Chr4:81124299 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.972C>T (p.Gly324=) single nucleotide variant Early-onset Lafora body disease [RCV000652747] Chr4:80202434 [GRCh38]
Chr4:81123588 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.451+13G>T single nucleotide variant Early-onset Lafora body disease [RCV002060218]|not provided [RCV000513839] Chr4:80201534 [GRCh38]
Chr4:81122688 [GRCh37]
Chr4:4q21.21		 benign|likely benign
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile) single nucleotide variant Early-onset Lafora body disease [RCV000560226] Chr4:80202687 [GRCh38]
Chr4:81123841 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1968C>G (p.Pro656=) single nucleotide variant Early-onset Lafora body disease [RCV000539014] Chr4:80203430 [GRCh38]
Chr4:81124584 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg) single nucleotide variant Early-onset Lafora body disease [RCV000535410] Chr4:80203300 [GRCh38]
Chr4:81124454 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile) single nucleotide variant Early-onset Lafora body disease [RCV000652738] Chr4:80202309 [GRCh38]
Chr4:81123463 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser) single nucleotide variant Early-onset Lafora body disease [RCV000652739]|not specified [RCV004025882] Chr4:80202183 [GRCh38]
Chr4:81123337 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.329G>C (p.Gly110Ala) single nucleotide variant Early-onset Lafora body disease [RCV000652740]|not specified [RCV004025883] Chr4:80201399 [GRCh38]
Chr4:81122553 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn) single nucleotide variant Early-onset Lafora body disease [RCV000652741] Chr4:80202874 [GRCh38]
Chr4:81124028 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala) single nucleotide variant Early-onset Lafora body disease [RCV000652743] Chr4:80203035 [GRCh38]
Chr4:81124189 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.985C>T (p.Leu329=) single nucleotide variant Early-onset Lafora body disease [RCV000652744]|PRDM8-related condition [RCV003905775] Chr4:80202447 [GRCh38]
Chr4:81123601 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser) single nucleotide variant Early-onset Lafora body disease [RCV000652742]|not specified [RCV004025884] Chr4:80202330 [GRCh38]
Chr4:81123484 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1812G>A (p.Gln604=) single nucleotide variant Early-onset Lafora body disease [RCV000652745] Chr4:80203274 [GRCh38]
Chr4:81124428 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.117T>C (p.Ala39=) single nucleotide variant Early-onset Lafora body disease [RCV000652746] Chr4:80200197 [GRCh38]
Chr4:81121351 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.1674T>C (p.Gly558=) single nucleotide variant Early-onset Lafora body disease [RCV000652748] Chr4:80203136 [GRCh38]
Chr4:81124290 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.654G>A (p.Glu218=) single nucleotide variant Early-onset Lafora body disease [RCV000652749] Chr4:80202116 [GRCh38]
Chr4:81123270 [GRCh37]
Chr4:4q21.21		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp) single nucleotide variant Early-onset Lafora body disease [RCV000699645] Chr4:80202898 [GRCh38]
Chr4:81124052 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg) single nucleotide variant Early-onset Lafora body disease [RCV000687244] Chr4:80203105 [GRCh38]
Chr4:81124259 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.998G>T (p.Arg333Leu) single nucleotide variant Early-onset Lafora body disease [RCV000698322] Chr4:80202460 [GRCh38]
Chr4:81123614 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr) single nucleotide variant Early-onset Lafora body disease [RCV000705211] Chr4:80202672 [GRCh38]
Chr4:81123826 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg) single nucleotide variant Early-onset Lafora body disease [RCV000705776]|not specified [RCV004026704] Chr4:80203113 [GRCh38]
Chr4:81124267 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser) single nucleotide variant Early-onset Lafora body disease [RCV000706130] Chr4:80202912 [GRCh38]
Chr4:81124066 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys) single nucleotide variant Early-onset Lafora body disease [RCV000685543] Chr4:80200244 [GRCh38]
Chr4:81121398 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys) single nucleotide variant Early-onset Lafora body disease [RCV000698637] Chr4:80202609 [GRCh38]
Chr4:81123763 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser) single nucleotide variant Early-onset Lafora body disease [RCV000701949] Chr4:80203519 [GRCh38]
Chr4:81124673 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1474G>A (p.Ala492Thr) single nucleotide variant Early-onset Lafora body disease [RCV000704849] Chr4:80202936 [GRCh38]
Chr4:81124090 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1468C>G (p.Gln490Glu) single nucleotide variant Early-onset Lafora body disease [RCV000691092] Chr4:80202930 [GRCh38]
Chr4:81124084 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.506C>T (p.Pro169Leu) single nucleotide variant Early-onset Lafora body disease [RCV000696207] Chr4:80201968 [GRCh38]
Chr4:81123122 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.543A>T (p.Arg181Ser) single nucleotide variant Early-onset Lafora body disease [RCV000685135] Chr4:80202005 [GRCh38]
Chr4:81123159 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His) single nucleotide variant Early-onset Lafora body disease [RCV000694317] Chr4:80203112 [GRCh38]
Chr4:81124266 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q21.21(chr4:81104548-81140615)x1 copy number loss not provided [RCV000743738] Chr4:81104548..81140615 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81118346-81124477)x0 copy number loss not provided [RCV000743739] Chr4:81118346..81124477 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81118346-81126083)x0 copy number loss not provided [RCV000743740] Chr4:81118346..81126083 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81124040-81124981)x1 copy number loss not provided [RCV000743741] Chr4:81124040..81124981 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81124040-81130714)x1 copy number loss not provided [RCV000743742] Chr4:81124040..81130714 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81124040-81140615)x1 copy number loss not provided [RCV000743743] Chr4:81124040..81140615 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81124077-81126083)x1 copy number loss not provided [RCV000743744] Chr4:81124077..81126083 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81124077-81130714)x1 copy number loss not provided [RCV000743745] Chr4:81124077..81130714 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4q21.21(chr4:81124119-81126083)x1 copy number loss not provided [RCV000743746] Chr4:81124119..81126083 [GRCh37]
Chr4:4q21.21		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_001099403.2(PRDM8):c.663A>G (p.Leu221=) single nucleotide variant Early-onset Lafora body disease [RCV001488459] Chr4:80202125 [GRCh38]
Chr4:81123279 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1693G>A (p.Gly565Ser) single nucleotide variant Early-onset Lafora body disease [RCV001066700] Chr4:80203155 [GRCh38]
Chr4:81124309 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1464G>A (p.Gly488=) single nucleotide variant Early-onset Lafora body disease [RCV001496646] Chr4:80202926 [GRCh38]
Chr4:81124080 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1506G>A (p.Ser502=) single nucleotide variant Early-onset Lafora body disease [RCV000951455] Chr4:80202968 [GRCh38]
Chr4:81124122 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.276C>G (p.Val92=) single nucleotide variant Early-onset Lafora body disease [RCV000951464] Chr4:80201346 [GRCh38]
Chr4:81122500 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1446C>T (p.Ala482=) single nucleotide variant Early-onset Lafora body disease [RCV001484716] Chr4:80202908 [GRCh38]
Chr4:81124062 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1809G>A (p.Leu603=) single nucleotide variant Early-onset Lafora body disease [RCV001424235] Chr4:80203271 [GRCh38]
Chr4:81124425 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.231A>G (p.Ser77=) single nucleotide variant Early-onset Lafora body disease [RCV001488017] Chr4:80201301 [GRCh38]
Chr4:81122455 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1647C>T (p.Leu549=) single nucleotide variant Early-onset Lafora body disease [RCV000900108]|not provided [RCV002292593] Chr4:80203109 [GRCh38]
Chr4:81124263 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.459C>A (p.Ser153=) single nucleotide variant Early-onset Lafora body disease [RCV000972146] Chr4:80201921 [GRCh38]
Chr4:81123075 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.858T>C (p.Gly286=) single nucleotide variant Early-onset Lafora body disease [RCV000884764] Chr4:80202320 [GRCh38]
Chr4:81123474 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn) single nucleotide variant Early-onset Lafora body disease [RCV001040508] Chr4:80200120 [GRCh38]
Chr4:81121274 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.940A>T (p.Arg314Trp) single nucleotide variant Early-onset Lafora body disease [RCV001058815] Chr4:80202402 [GRCh38]
Chr4:81123556 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.868GGC[7] (p.Gly293_Gly294dup) microsatellite Early-onset Lafora body disease [RCV001058913] Chr4:80202327..80202328 [GRCh38]
Chr4:81123481..81123482 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser) single nucleotide variant Early-onset Lafora body disease [RCV001059286] Chr4:80203047 [GRCh38]
Chr4:81124201 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.868GGC[8] (p.Gly292_Gly294dup) microsatellite Early-onset Lafora body disease [RCV001038445] Chr4:80202327..80202328 [GRCh38]
Chr4:81123481..81123482 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro) single nucleotide variant Early-onset Lafora body disease [RCV001042920] Chr4:80203482 [GRCh38]
Chr4:81124636 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu) single nucleotide variant Early-onset Lafora body disease [RCV001050401] Chr4:80202487 [GRCh38]
Chr4:81123641 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile) single nucleotide variant Early-onset Lafora body disease [RCV001070669]|not specified [RCV004030758] Chr4:80202141 [GRCh38]
Chr4:81123295 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser) single nucleotide variant Early-onset Lafora body disease [RCV001060997] Chr4:80203086 [GRCh38]
Chr4:81124240 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.804G>A (p.Leu268=) single nucleotide variant Early-onset Lafora body disease [RCV001505991] Chr4:80202266 [GRCh38]
Chr4:81123420 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1659G>C (p.Ala553=) single nucleotide variant Early-onset Lafora body disease [RCV000952896] Chr4:80203121 [GRCh38]
Chr4:81124275 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1239C>T (p.Asp413=) single nucleotide variant Early-onset Lafora body disease [RCV000941761] Chr4:80202701 [GRCh38]
Chr4:81123855 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1011A>C (p.Val337=) single nucleotide variant Early-onset Lafora body disease [RCV000959201] Chr4:80202473 [GRCh38]
Chr4:81123627 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met) indel Early-onset Lafora body disease [RCV000820643] Chr4:80203413..80203414 [GRCh38]
Chr4:81124567..81124568 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1407G>A (p.Ala469=) single nucleotide variant Early-onset Lafora body disease [RCV000893285] Chr4:80202869 [GRCh38]
Chr4:81124023 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1805AGCTGC[1] (p.602QL[1]) microsatellite Early-onset Lafora body disease [RCV000821542] Chr4:80203264..80203269 [GRCh38]
Chr4:81124418..81124423 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser) single nucleotide variant Early-onset Lafora body disease [RCV000797631] Chr4:80202537 [GRCh38]
Chr4:81123691 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg) single nucleotide variant Early-onset Lafora body disease [RCV000803614]|not specified [RCV004028148] Chr4:80203183 [GRCh38]
Chr4:81124337 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly) single nucleotide variant Early-onset Lafora body disease [RCV000813952] Chr4:80202327 [GRCh38]
Chr4:81123481 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 copy number loss See cases [RCV000790579] Chr4:80482400..92572499 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro) single nucleotide variant Early-onset Lafora body disease [RCV000796337] Chr4:80202346 [GRCh38]
Chr4:81123500 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q21.21-21.22(chr4:80199183-84074906)x1 copy number loss not provided [RCV000848187] Chr4:80199183..84074906 [GRCh37]
Chr4:4q21.21-21.22		 pathogenic
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser) single nucleotide variant Early-onset Lafora body disease [RCV000815601]|not specified [RCV004028859] Chr4:80203428 [GRCh38]
Chr4:81124582 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser) single nucleotide variant Early-onset Lafora body disease [RCV000816182] Chr4:80202888 [GRCh38]
Chr4:81124042 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg) single nucleotide variant Early-onset Lafora body disease [RCV001043501] Chr4:80202549 [GRCh38]
Chr4:81123703 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu) single nucleotide variant Early-onset Lafora body disease [RCV000806680]|not provided [RCV001255092] Chr4:80202051 [GRCh38]
Chr4:81123205 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu) single nucleotide variant Early-onset Lafora body disease [RCV000808533] Chr4:80202109 [GRCh38]
Chr4:81123263 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup) duplication Early-onset Lafora body disease [RCV000792325] Chr4:80203223..80203224 [GRCh38]
Chr4:81124377..81124378 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val) single nucleotide variant Early-onset Lafora body disease [RCV000793208] Chr4:80203275 [GRCh38]
Chr4:81124429 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22		 pathogenic
GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1 copy number loss not provided [RCV000846933] Chr4:78769297..84968832 [GRCh37]
Chr4:4q21.1-21.23		 pathogenic
NM_001099403.2(PRDM8):c.1779_1796del (p.Ala594_Gly599del) deletion Early-onset Lafora body disease [RCV000893007] Chr4:80203241..80203258 [GRCh38]
Chr4:81124395..81124412 [GRCh37]
Chr4:4q21.21		 likely benign
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del) deletion Early-onset Lafora body disease [RCV001229049] Chr4:80203227..80203247 [GRCh38]
Chr4:81124381..81124401 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu) single nucleotide variant Early-onset Lafora body disease [RCV001226310] Chr4:80202172 [GRCh38]
Chr4:81123326 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser) single nucleotide variant Early-onset Lafora body disease [RCV001241979]|not specified [RCV004034700] Chr4:80202339 [GRCh38]
Chr4:81123493 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.757A>G (p.Ser253Gly) single nucleotide variant Early-onset Lafora body disease [RCV001227234] Chr4:80202219 [GRCh38]
Chr4:81123373 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1035G>A (p.Lys345=) single nucleotide variant Early-onset Lafora body disease [RCV001222426] Chr4:80202497 [GRCh38]
Chr4:81123651 [GRCh37]
Chr4:4q21.21		 likely benign|uncertain significance
NM_001099403.2(PRDM8):c.1552C>T (p.Gln518Ter) single nucleotide variant Early-onset Lafora body disease [RCV001222585] Chr4:80203014 [GRCh38]
Chr4:81124168 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del) deletion Early-onset Lafora body disease [RCV001209220] Chr4:80202736..80202741 [GRCh38]
Chr4:81123890..81123895 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile) single nucleotide variant Early-onset Lafora body disease [RCV001221108] Chr4:80200282 [GRCh38]
Chr4:81121436 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1553A>G (p.Gln518Arg) single nucleotide variant Early-onset Lafora body disease [RCV001209672] Chr4:80203015 [GRCh38]
Chr4:81124169 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile) single nucleotide variant Early-onset Lafora body disease [RCV001214707] Chr4:80202190 [GRCh38]
Chr4:81123344 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1562G>A (p.Gly521Asp) single nucleotide variant Early-onset Lafora body disease [RCV001211468] Chr4:80203024 [GRCh38]
Chr4:81124178 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.747C>G (p.Ala249=) single nucleotide variant Early-onset Lafora body disease [RCV001499349] Chr4:80202209 [GRCh38]
Chr4:81123363 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1956T>C (p.Tyr652=) single nucleotide variant Early-onset Lafora body disease [RCV000979986] Chr4:80203418 [GRCh38]
Chr4:81124572 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1333C>T (p.Leu445=) single nucleotide variant Early-onset Lafora body disease [RCV000951870] Chr4:80202795 [GRCh38]
Chr4:81123949 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1251C>A (p.Gly417=) single nucleotide variant Early-onset Lafora body disease [RCV002539294] Chr4:80202713 [GRCh38]
Chr4:81123867 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.404C>T (p.Thr135Ile) single nucleotide variant Early-onset Lafora body disease [RCV001212431] Chr4:80201474 [GRCh38]
Chr4:81122628 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val) single nucleotide variant Early-onset Lafora body disease [RCV001235760]|not specified [RCV004033290] Chr4:80203048 [GRCh38]
Chr4:81124202 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr) single nucleotide variant Early-onset Lafora body disease [RCV001242295] Chr4:80202867 [GRCh38]
Chr4:81124021 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg) single nucleotide variant Early-onset Lafora body disease [RCV001247732] Chr4:80203206 [GRCh38]
Chr4:81124360 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr) single nucleotide variant Early-onset Lafora body disease [RCV001219238] Chr4:80202708 [GRCh38]
Chr4:81123862 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala) single nucleotide variant Early-onset Lafora body disease [RCV001244861] Chr4:80200090 [GRCh38]
Chr4:81121244 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly) single nucleotide variant Early-onset Lafora body disease [RCV001243417] Chr4:80202819 [GRCh38]
Chr4:81123973 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn) single nucleotide variant Early-onset Lafora body disease [RCV001208892] Chr4:80202635 [GRCh38]
Chr4:81123789 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.868GGC[2] (p.Gly292_Gly294del) microsatellite Early-onset Lafora body disease [RCV001037240] Chr4:80202328..80202336 [GRCh38]
Chr4:81123482..81123490 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys) single nucleotide variant Early-onset Lafora body disease [RCV001066035] Chr4:80200148 [GRCh38]
Chr4:81121302 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys) single nucleotide variant Early-onset Lafora body disease [RCV001217380] Chr4:80200289 [GRCh38]
Chr4:81121443 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys) single nucleotide variant Early-onset Lafora body disease [RCV001227897] Chr4:80202202 [GRCh38]
Chr4:81123356 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser) single nucleotide variant Early-onset Lafora body disease [RCV001209960]|not specified [RCV004033785] Chr4:80203083 [GRCh38]
Chr4:81124237 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1350G>A (p.Glu450=) single nucleotide variant Early-onset Lafora body disease [RCV000935677] Chr4:80202812 [GRCh38]
Chr4:81123966 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln) single nucleotide variant Early-onset Lafora body disease [RCV001068566] Chr4:80202805 [GRCh38]
Chr4:81123959 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr) single nucleotide variant Early-onset Lafora body disease [RCV001035537] Chr4:80203153 [GRCh38]
Chr4:81124307 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1166T>C (p.Val389Ala) single nucleotide variant Early-onset Lafora body disease [RCV001036224] Chr4:80202628 [GRCh38]
Chr4:81123782 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.282G>A (p.Ser94=) single nucleotide variant Early-onset Lafora body disease [RCV001048886] Chr4:80201352 [GRCh38]
Chr4:81122506 [GRCh37]
Chr4:4q21.21		 likely benign|uncertain significance
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser) single nucleotide variant Early-onset Lafora body disease [RCV001208436] Chr4:80202798 [GRCh38]
Chr4:81123952 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr) single nucleotide variant Early-onset Lafora body disease [RCV001068667] Chr4:80202576 [GRCh38]
Chr4:81123730 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.689C>G (p.Ala230Gly) single nucleotide variant Early-onset Lafora body disease [RCV001201889] Chr4:80202151 [GRCh38]
Chr4:81123305 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser) single nucleotide variant Early-onset Lafora body disease [RCV001213032] Chr4:80203336 [GRCh38]
Chr4:81124490 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln) single nucleotide variant Early-onset Lafora body disease [RCV001069326] Chr4:80203189 [GRCh38]
Chr4:81124343 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser) single nucleotide variant Early-onset Lafora body disease [RCV001040111]|not specified [RCV004031128] Chr4:80202750 [GRCh38]
Chr4:81123904 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1465G>A (p.Gly489Ser) single nucleotide variant Early-onset Lafora body disease [RCV001204838] Chr4:80202927 [GRCh38]
Chr4:81124081 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr) single nucleotide variant Early-onset Lafora body disease [RCV001214805] Chr4:80202307 [GRCh38]
Chr4:81123461 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.373G>A (p.Glu125Lys) single nucleotide variant Early-onset Lafora body disease [RCV001207074] Chr4:80201443 [GRCh38]
Chr4:81122597 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1236G>A (p.Glu412=) single nucleotide variant Early-onset Lafora body disease [RCV001235289] Chr4:80202698 [GRCh38]
Chr4:81123852 [GRCh37]
Chr4:4q21.21		 likely benign|uncertain significance
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn) single nucleotide variant Early-onset Lafora body disease [RCV001054583] Chr4:80200097 [GRCh38]
Chr4:81121251 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup) duplication Early-onset Lafora body disease [RCV001202408] Chr4:80203235..80203236 [GRCh38]
Chr4:81124389..81124390 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp) single nucleotide variant Early-onset Lafora body disease [RCV001213248] Chr4:80200094 [GRCh38]
Chr4:81121248 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.378A>T (p.Leu126Phe) single nucleotide variant Early-onset Lafora body disease [RCV001041819] Chr4:80201448 [GRCh38]
Chr4:81122602 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn) single nucleotide variant Early-onset Lafora body disease [RCV001052170]|not specified [RCV004031629] Chr4:80200226 [GRCh38]
Chr4:81121380 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup) microsatellite Early-onset Lafora body disease [RCV001204149] Chr4:80203152..80203153 [GRCh38]
Chr4:81124306..81124307 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.560T>C (p.Ile187Thr) single nucleotide variant Early-onset Lafora body disease [RCV001257221] Chr4:80202022 [GRCh38]
Chr4:81123176 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3		 pathogenic
NM_001099403.2(PRDM8):c.127C>T (p.Pro43Ser) single nucleotide variant Early-onset Lafora body disease [RCV001304829] Chr4:80200207 [GRCh38]
Chr4:81121361 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.814C>T (p.Arg272Trp) single nucleotide variant Early-onset Lafora body disease [RCV001324833] Chr4:80202276 [GRCh38]
Chr4:81123430 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1077C>T (p.Gly359=) single nucleotide variant Early-onset Lafora body disease [RCV001351016] Chr4:80202539 [GRCh38]
Chr4:81123693 [GRCh37]
Chr4:4q21.21		 likely benign|uncertain significance
NM_001099403.2(PRDM8):c.1892A>G (p.Asn631Ser) single nucleotide variant Early-onset Lafora body disease [RCV001317679] Chr4:80203354 [GRCh38]
Chr4:81124508 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1245C>A (p.Asp415Glu) single nucleotide variant Early-onset Lafora body disease [RCV001305179]|not specified [RCV004036342] Chr4:80202707 [GRCh38]
Chr4:81123861 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1409G>A (p.Gly470Asp) single nucleotide variant Early-onset Lafora body disease [RCV001339522]|not specified [RCV004035903] Chr4:80202871 [GRCh38]
Chr4:81124025 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1374C>A (p.Ser458Arg) single nucleotide variant Early-onset Lafora body disease [RCV001319977] Chr4:80202836 [GRCh38]
Chr4:81123990 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.761G>C (p.Ser254Thr) single nucleotide variant Early-onset Lafora body disease [RCV001299425] Chr4:80202223 [GRCh38]
Chr4:81123377 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1666A>C (p.Asn556His) single nucleotide variant Early-onset Lafora body disease [RCV001314141] Chr4:80203128 [GRCh38]
Chr4:81124282 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.973G>A (p.Gly325Ser) single nucleotide variant Early-onset Lafora body disease [RCV001305125]|not specified [RCV004036338] Chr4:80202435 [GRCh38]
Chr4:81123589 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1461C>G (p.Gly487=) single nucleotide variant Early-onset Lafora body disease [RCV001396659] Chr4:80202923 [GRCh38]
Chr4:81124077 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.269G>A (p.Arg90Gln) single nucleotide variant Early-onset Lafora body disease [RCV001369760] Chr4:80201339 [GRCh38]
Chr4:81122493 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.742G>A (p.Ala248Thr) single nucleotide variant Early-onset Lafora body disease [RCV001351035] Chr4:80202204 [GRCh38]
Chr4:81123358 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1098G>A (p.Glu366=) single nucleotide variant Early-onset Lafora body disease [RCV001421207] Chr4:80202560 [GRCh38]
Chr4:81123714 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1168AAG[1] (p.Lys391del) microsatellite Early-onset Lafora body disease [RCV001360182] Chr4:80202629..80202631 [GRCh38]
Chr4:81123783..81123785 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1579C>T (p.His527Tyr) single nucleotide variant Early-onset Lafora body disease [RCV001362771] Chr4:80203041 [GRCh38]
Chr4:81124195 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1884C>G (p.Ala628=) single nucleotide variant Early-onset Lafora body disease [RCV001397312] Chr4:80203346 [GRCh38]
Chr4:81124500 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1967C>T (p.Pro656Leu) single nucleotide variant Early-onset Lafora body disease [RCV001323772] Chr4:80203429 [GRCh38]
Chr4:81124583 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1024C>A (p.Pro342Thr) single nucleotide variant Early-onset Lafora body disease [RCV001306510] Chr4:80202486 [GRCh38]
Chr4:81123640 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1481C>G (p.Ser494Trp) single nucleotide variant Early-onset Lafora body disease [RCV001326472] Chr4:80202943 [GRCh38]
Chr4:81124097 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1646T>G (p.Leu549Arg) single nucleotide variant Early-onset Lafora body disease [RCV001305579] Chr4:80203108 [GRCh38]
Chr4:81124262 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.2000A>G (p.Lys667Arg) single nucleotide variant Early-onset Lafora body disease [RCV001306769] Chr4:80203462 [GRCh38]
Chr4:81124616 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1807C>A (p.Leu603Met) single nucleotide variant Early-onset Lafora body disease [RCV001300310] Chr4:80203269 [GRCh38]
Chr4:81124423 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.992G>A (p.Gly331Glu) single nucleotide variant Early-onset Lafora body disease [RCV001372083] Chr4:80202454 [GRCh38]
Chr4:81123608 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1249GGC[6] (p.Gly421dup) microsatellite Early-onset Lafora body disease [RCV001318878] Chr4:80202710..80202711 [GRCh38]
Chr4:81123864..81123865 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.983G>C (p.Gly328Ala) single nucleotide variant Early-onset Lafora body disease [RCV001318904] Chr4:80202445 [GRCh38]
Chr4:81123599 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.611G>A (p.Gly204Asp) single nucleotide variant Early-onset Lafora body disease [RCV001368521] Chr4:80202073 [GRCh38]
Chr4:81123227 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.838G>A (p.Ala280Thr) single nucleotide variant Early-onset Lafora body disease [RCV001300617] Chr4:80202300 [GRCh38]
Chr4:81123454 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.736C>T (p.Pro246Ser) single nucleotide variant Early-onset Lafora body disease [RCV001372862] Chr4:80202198 [GRCh38]
Chr4:81123352 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.34G>A (p.Asp12Asn) single nucleotide variant Early-onset Lafora body disease [RCV001372917] Chr4:80200114 [GRCh38]
Chr4:81121268 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.428C>T (p.Ser143Phe) single nucleotide variant Early-onset Lafora body disease [RCV001363689] Chr4:80201498 [GRCh38]
Chr4:81122652 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1637C>T (p.Ala546Val) single nucleotide variant Early-onset Lafora body disease [RCV001295746] Chr4:80203099 [GRCh38]
Chr4:81124253 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1688C>G (p.Pro563Arg) single nucleotide variant Early-onset Lafora body disease [RCV001316352]|not specified [RCV004034392] Chr4:80203150 [GRCh38]
Chr4:81124304 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.918C>T (p.Ala306=) single nucleotide variant Early-onset Lafora body disease [RCV001421581] Chr4:80202380 [GRCh38]
Chr4:81123534 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1249GGC[7] (p.Gly420_Gly421dup) microsatellite Early-onset Lafora body disease [RCV001352416] Chr4:80202710..80202711 [GRCh38]
Chr4:81123864..81123865 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.552C>A (p.Ser184Arg) single nucleotide variant Early-onset Lafora body disease [RCV001341100] Chr4:80202014 [GRCh38]
Chr4:81123168 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1138G>A (p.Glu380Lys) single nucleotide variant Early-onset Lafora body disease [RCV001365731] Chr4:80202600 [GRCh38]
Chr4:81123754 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.639G>A (p.Gln213=) single nucleotide variant Early-onset Lafora body disease [RCV001486523] Chr4:80202101 [GRCh38]
Chr4:81123255 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.762C>T (p.Ser254=) single nucleotide variant Early-onset Lafora body disease [RCV001522542] Chr4:80202224 [GRCh38]
Chr4:81123378 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.1134G>A (p.Thr378=) single nucleotide variant Early-onset Lafora body disease [RCV001484662] Chr4:80202596 [GRCh38]
Chr4:81123750 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1788G>C (p.Ala596=) single nucleotide variant Early-onset Lafora body disease [RCV001417951] Chr4:80203250 [GRCh38]
Chr4:81124404 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1671A>G (p.Gly557=) single nucleotide variant Early-onset Lafora body disease [RCV001428469] Chr4:80203133 [GRCh38]
Chr4:81124287 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1821G>A (p.Ser607=) single nucleotide variant Early-onset Lafora body disease [RCV001475505] Chr4:80203283 [GRCh38]
Chr4:81124437 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1200G>A (p.Glu400=) single nucleotide variant Early-onset Lafora body disease [RCV001400334] Chr4:80202662 [GRCh38]
Chr4:81123816 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.921G>C (p.Thr307=) single nucleotide variant Early-onset Lafora body disease [RCV001402943] Chr4:80202383 [GRCh38]
Chr4:81123537 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1197G>A (p.Gln399=) single nucleotide variant Early-onset Lafora body disease [RCV001485219] Chr4:80202659 [GRCh38]
Chr4:81123813 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.271T>C (p.Leu91=) single nucleotide variant Early-onset Lafora body disease [RCV001484228] Chr4:80201341 [GRCh38]
Chr4:81122495 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.2040C>T (p.His680=) single nucleotide variant Early-onset Lafora body disease [RCV001506648] Chr4:80203502 [GRCh38]
Chr4:81124656 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.372G>A (p.Glu124=) single nucleotide variant Early-onset Lafora body disease [RCV001490098]|PRDM8-related condition [RCV003948433] Chr4:80201442 [GRCh38]
Chr4:81122596 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.415T>C (p.Leu139=) single nucleotide variant Early-onset Lafora body disease [RCV001493672] Chr4:80201485 [GRCh38]
Chr4:81122639 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1668C>T (p.Asn556=) single nucleotide variant Early-onset Lafora body disease [RCV001429885] Chr4:80203130 [GRCh38]
Chr4:81124284 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1396C>T (p.Leu466=) single nucleotide variant Early-onset Lafora body disease [RCV001429913] Chr4:80202858 [GRCh38]
Chr4:81124012 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1764C>G (p.Ala588=) single nucleotide variant Early-onset Lafora body disease [RCV001420104] Chr4:80203226 [GRCh38]
Chr4:81124380 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1485C>T (p.Asp495=) single nucleotide variant Early-onset Lafora body disease [RCV001440869]|PRDM8-related condition [RCV003946151] Chr4:80202947 [GRCh38]
Chr4:81124101 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.618C>G (p.Gly206=) single nucleotide variant Early-onset Lafora body disease [RCV001430719] Chr4:80202080 [GRCh38]
Chr4:81123234 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1767T>C (p.Ala589=) single nucleotide variant Early-onset Lafora body disease [RCV001411122]|not provided [RCV003438776] Chr4:80203229 [GRCh38]
Chr4:81124383 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1233C>G (p.Ser411=) single nucleotide variant Early-onset Lafora body disease [RCV001411008] Chr4:80202695 [GRCh38]
Chr4:81123849 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1494A>G (p.Lys498=) single nucleotide variant Early-onset Lafora body disease [RCV001393605] Chr4:80202956 [GRCh38]
Chr4:81124110 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1476C>T (p.Ala492=) single nucleotide variant Early-onset Lafora body disease [RCV001408765] Chr4:80202938 [GRCh38]
Chr4:81124092 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1434G>C (p.Thr478=) single nucleotide variant Early-onset Lafora body disease [RCV001406046] Chr4:80202896 [GRCh38]
Chr4:81124050 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.159C>T (p.Asp53=) single nucleotide variant Early-onset Lafora body disease [RCV001490689] Chr4:80200239 [GRCh38]
Chr4:81121393 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1272G>A (p.Thr424=) single nucleotide variant Early-onset Lafora body disease [RCV001486702] Chr4:80202734 [GRCh38]
Chr4:81123888 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.90C>T (p.Tyr30=) single nucleotide variant Early-onset Lafora body disease [RCV001460471] Chr4:80200170 [GRCh38]
Chr4:81121324 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.555T>G (p.Ala185=) single nucleotide variant Early-onset Lafora body disease [RCV001405551]|PRDM8-related condition [RCV003946064] Chr4:80202017 [GRCh38]
Chr4:81123171 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1038G>A (p.Glu346=) single nucleotide variant Early-onset Lafora body disease [RCV001504659] Chr4:80202500 [GRCh38]
Chr4:81123654 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.660T>C (p.Pro220=) single nucleotide variant Early-onset Lafora body disease [RCV001456997] Chr4:80202122 [GRCh38]
Chr4:81123276 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.885C>T (p.His295=) single nucleotide variant Early-onset Lafora body disease [RCV001476157] Chr4:80202347 [GRCh38]
Chr4:81123501 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.2043C>T (p.Leu681=) single nucleotide variant Early-onset Lafora body disease [RCV001467849] Chr4:80203505 [GRCh38]
Chr4:81124659 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1419C>T (p.Ser473=) single nucleotide variant Early-onset Lafora body disease [RCV001420082] Chr4:80202881 [GRCh38]
Chr4:81124035 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.867C>T (p.Ser289=) single nucleotide variant Early-onset Lafora body disease [RCV001407134] Chr4:80202329 [GRCh38]
Chr4:81123483 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1980G>C (p.Arg660=) single nucleotide variant Early-onset Lafora body disease [RCV001522076]|not provided [RCV001692426] Chr4:80203442 [GRCh38]
Chr4:81124596 [GRCh37]
Chr4:4q21.21		 benign
NM_001099403.2(PRDM8):c.951G>C (p.Pro317=) single nucleotide variant Early-onset Lafora body disease [RCV001425928] Chr4:80202413 [GRCh38]
Chr4:81123567 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.222A>G (p.Val74=) single nucleotide variant Early-onset Lafora body disease [RCV001495100] Chr4:80201292 [GRCh38]
Chr4:81122446 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1380C>T (p.Phe460=) single nucleotide variant Early-onset Lafora body disease [RCV001456555] Chr4:80202842 [GRCh38]
Chr4:81123996 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1146G>A (p.Lys382=) single nucleotide variant Early-onset Lafora body disease [RCV001504305] Chr4:80202608 [GRCh38]
Chr4:81123762 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.910G>C (p.Gly304Arg) single nucleotide variant Early-onset Lafora body disease [RCV001495314] Chr4:80202372 [GRCh38]
Chr4:81123526 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.121T>G (p.Phe41Val) single nucleotide variant Early-onset Lafora body disease [RCV001889353] Chr4:80200201 [GRCh38]
Chr4:81121355 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.296A>G (p.Glu99Gly) single nucleotide variant Early-onset Lafora body disease [RCV002001958] Chr4:80201366 [GRCh38]
Chr4:81122520 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1135G>A (p.Gly379Ser) single nucleotide variant Early-onset Lafora body disease [RCV001874930] Chr4:80202597 [GRCh38]
Chr4:81123751 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1615C>T (p.Pro539Ser) single nucleotide variant Early-onset Lafora body disease [RCV001971265] Chr4:80203077 [GRCh38]
Chr4:81124231 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1175C>G (p.Ala392Gly) single nucleotide variant Early-onset Lafora body disease [RCV001864663] Chr4:80202637 [GRCh38]
Chr4:81123791 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.895G>C (p.Glu299Gln) single nucleotide variant Early-onset Lafora body disease [RCV001896772] Chr4:80202357 [GRCh38]
Chr4:81123511 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.919A>G (p.Thr307Ala) single nucleotide variant Early-onset Lafora body disease [RCV002008612] Chr4:80202381 [GRCh38]
Chr4:81123535 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1 copy number loss not provided [RCV001829208] Chr4:80467886..93362064 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
NM_001099403.2(PRDM8):c.192C>A (p.Asp64Glu) single nucleotide variant Early-onset Lafora body disease [RCV002021126] Chr4:80200272 [GRCh38]
Chr4:81121426 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1400G>A (p.Gly467Asp) single nucleotide variant Early-onset Lafora body disease [RCV001949888] Chr4:80202862 [GRCh38]
Chr4:81124016 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1084T>A (p.Phe362Ile) single nucleotide variant Early-onset Lafora body disease [RCV001889026] Chr4:80202546 [GRCh38]
Chr4:81123700 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1300G>A (p.Glu434Lys) single nucleotide variant Early-onset Lafora body disease [RCV001863480] Chr4:80202762 [GRCh38]
Chr4:81123916 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1657G>A (p.Ala553Thr) single nucleotide variant Early-onset Lafora body disease [RCV001909817] Chr4:80203119 [GRCh38]
Chr4:81124273 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.880G>T (p.Gly294Cys) single nucleotide variant Early-onset Lafora body disease [RCV001891360] Chr4:80202342 [GRCh38]
Chr4:81123496 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225) copy number loss not specified [RCV002053432] Chr4:79780152..94873225 [GRCh37]
Chr4:4q21.21-22.2		 pathogenic
NM_001099403.2(PRDM8):c.658C>T (p.Pro220Ser) single nucleotide variant Early-onset Lafora body disease [RCV002040703] Chr4:80202120 [GRCh38]
Chr4:81123274 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1736C>T (p.Thr579Ile) single nucleotide variant Early-onset Lafora body disease [RCV001987179] Chr4:80203198 [GRCh38]
Chr4:81124352 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.620G>A (p.Gly207Asp) single nucleotide variant Early-onset Lafora body disease [RCV001984626] Chr4:80202082 [GRCh38]
Chr4:81123236 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.441_444del (p.Asn147fs) deletion Early-onset Lafora body disease [RCV002040113] Chr4:80201509..80201512 [GRCh38]
Chr4:81122663..81122666 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.956A>C (p.Glu319Ala) single nucleotide variant Early-onset Lafora body disease [RCV001946289] Chr4:80202418 [GRCh38]
Chr4:81123572 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) copy number gain not specified [RCV002053429] Chr4:75737340..91131156 [GRCh37]
Chr4:4q13.3-22.1		 pathogenic
NM_001099403.2(PRDM8):c.1324G>A (p.Gly442Arg) single nucleotide variant Early-onset Lafora body disease [RCV001964263] Chr4:80202786 [GRCh38]
Chr4:81123940 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.636G>C (p.Gln212His) single nucleotide variant Early-onset Lafora body disease [RCV001966920] Chr4:80202098 [GRCh38]
Chr4:81123252 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.532T>C (p.Cys178Arg) single nucleotide variant Early-onset Lafora body disease [RCV002022535] Chr4:80201994 [GRCh38]
Chr4:81123148 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1283C>T (p.Ala428Val) single nucleotide variant Early-onset Lafora body disease [RCV001872345] Chr4:80202745 [GRCh38]
Chr4:81123899 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.2060C>G (p.Ser687Trp) single nucleotide variant Early-onset Lafora body disease [RCV001945402] Chr4:80203522 [GRCh38]
Chr4:81124676 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4q21.21-21.22(chr4:80865788-82927188) copy number loss not specified [RCV002053434] Chr4:80865788..82927188 [GRCh37]
Chr4:4q21.21-21.22		 uncertain significance
GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421) copy number loss not specified [RCV002053435] Chr4:81054789..90667421 [GRCh37]
Chr4:4q21.21-22.1		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
NM_001099403.2(PRDM8):c.1832T>C (p.Leu611Pro) single nucleotide variant Early-onset Lafora body disease [RCV002012857] Chr4:80203294 [GRCh38]
Chr4:81124448 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1770_1781dup (p.Ala595_Ala598dup) duplication Early-onset Lafora body disease [RCV002015710] Chr4:80203226..80203227 [GRCh38]
Chr4:81124380..81124381 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.901A>G (p.Ser301Gly) single nucleotide variant Early-onset Lafora body disease [RCV001978183] Chr4:80202363 [GRCh38]
Chr4:81123517 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.163A>G (p.Ile55Val) single nucleotide variant Early-onset Lafora body disease [RCV001957389] Chr4:80200243 [GRCh38]
Chr4:81121397 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.232G>A (p.Ala78Thr) single nucleotide variant Early-onset Lafora body disease [RCV001936811] Chr4:80201302 [GRCh38]
Chr4:81122456 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.904C>A (p.Pro302Thr) single nucleotide variant Early-onset Lafora body disease [RCV001886489] Chr4:80202366 [GRCh38]
Chr4:81123520 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.58C>A (p.Gln20Lys) single nucleotide variant Early-onset Lafora body disease [RCV002020247] Chr4:80200138 [GRCh38]
Chr4:81121292 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1408G>A (p.Gly470Ser) single nucleotide variant Early-onset Lafora body disease [RCV001971934] Chr4:80202870 [GRCh38]
Chr4:81124024 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.488G>A (p.Arg163His) single nucleotide variant Early-onset Lafora body disease [RCV002037244] Chr4:80201950 [GRCh38]
Chr4:81123104 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.935G>A (p.Gly312Glu) single nucleotide variant Early-onset Lafora body disease [RCV002001027] Chr4:80202397 [GRCh38]
Chr4:81123551 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.865_876dup (p.Ser289_Gly292dup) duplication Early-onset Lafora body disease [RCV001999549] Chr4:80202321..80202322 [GRCh38]
Chr4:81123475..81123476 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1055C>A (p.Pro352Gln) single nucleotide variant Early-onset Lafora body disease [RCV002046435] Chr4:80202517 [GRCh38]
Chr4:81123671 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.250G>A (p.Glu84Lys) single nucleotide variant Early-onset Lafora body disease [RCV001903627] Chr4:80201320 [GRCh38]
Chr4:81122474 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.861C>G (p.Ser287Arg) single nucleotide variant Early-onset Lafora body disease [RCV001937536] Chr4:80202323 [GRCh38]
Chr4:81123477 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1590C>G (p.Asp530Glu) single nucleotide variant Early-onset Lafora body disease [RCV001917768]|not specified [RCV004041708] Chr4:80203052 [GRCh38]
Chr4:81124206 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1897T>G (p.Ser633Ala) single nucleotide variant Early-onset Lafora body disease [RCV001922402] Chr4:80203359 [GRCh38]
Chr4:81124513 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1164G>C (p.Glu388Asp) single nucleotide variant Early-onset Lafora body disease [RCV001954318] Chr4:80202626 [GRCh38]
Chr4:81123780 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.675C>G (p.Pro225=) single nucleotide variant Early-onset Lafora body disease [RCV001903780] Chr4:80202137 [GRCh38]
Chr4:81123291 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1618G>T (p.Ala540Ser) single nucleotide variant Early-onset Lafora body disease [RCV001878770] Chr4:80203080 [GRCh38]
Chr4:81124234 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1739C>T (p.Ala580Val) single nucleotide variant Early-onset Lafora body disease [RCV002048616] Chr4:80203201 [GRCh38]
Chr4:81124355 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1782GGC[4] (p.Ala598dup) microsatellite Early-onset Lafora body disease [RCV001957244] Chr4:80203241..80203242 [GRCh38]
Chr4:81124395..81124396 [GRCh37]
Chr4:4q21.21		 uncertain significance
NC_000004.11:g.(?_80828583)_(81124686_?)del deletion Early-onset Lafora body disease [RCV002033040] Chr4:80828583..81124686 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.260T>C (p.Met87Thr) single nucleotide variant Early-onset Lafora body disease [RCV001903383] Chr4:80201330 [GRCh38]
Chr4:81122484 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1454G>A (p.Gly485Asp) single nucleotide variant Early-onset Lafora body disease [RCV001899801] Chr4:80202916 [GRCh38]
Chr4:81124070 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.859AGCGGC[1] (p.285SG[2]) microsatellite Early-onset Lafora body disease [RCV001930580] Chr4:80202321..80202326 [GRCh38]
Chr4:81123475..81123480 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1142_1204del (p.Ala381_Glu401del) deletion Early-onset Lafora body disease [RCV002046342] Chr4:80202600..80202662 [GRCh38]
Chr4:81123754..81123816 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1235A>T (p.Glu412Val) single nucleotide variant Early-onset Lafora body disease [RCV001916087]|not specified [RCV004042857] Chr4:80202697 [GRCh38]
Chr4:81123851 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.224A>T (p.Asp75Val) single nucleotide variant Early-onset Lafora body disease [RCV002026532] Chr4:80201294 [GRCh38]
Chr4:81122448 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.118A>G (p.Ile40Val) single nucleotide variant Early-onset Lafora body disease [RCV001976328] Chr4:80200198 [GRCh38]
Chr4:81121352 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.593G>A (p.Gly198Asp) single nucleotide variant Early-onset Lafora body disease [RCV001992043] Chr4:80202055 [GRCh38]
Chr4:81123209 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1673G>T (p.Gly558Val) single nucleotide variant Early-onset Lafora body disease [RCV001882149] Chr4:80203135 [GRCh38]
Chr4:81124289 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.328G>A (p.Gly110Arg) single nucleotide variant Early-onset Lafora body disease [RCV002019369] Chr4:80201398 [GRCh38]
Chr4:81122552 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.862G>A (p.Gly288Ser) single nucleotide variant Early-onset Lafora body disease [RCV001960323] Chr4:80202324 [GRCh38]
Chr4:81123478 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1761_1787del (p.Ala590_Ala598del) deletion Early-onset Lafora body disease [RCV001886415] Chr4:80203221..80203247 [GRCh38]
Chr4:81124375..81124401 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1466G>T (p.Gly489Val) single nucleotide variant Early-onset Lafora body disease [RCV001932631] Chr4:80202928 [GRCh38]
Chr4:81124082 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1249GGC[3] (p.Gly420_Gly421del) microsatellite Early-onset Lafora body disease [RCV001937361] Chr4:80202711..80202716 [GRCh38]
Chr4:81123865..81123870 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.736C>A (p.Pro246Thr) single nucleotide variant Early-onset Lafora body disease [RCV001973290] Chr4:80202198 [GRCh38]
Chr4:81123352 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1634T>C (p.Leu545Pro) single nucleotide variant Early-onset Lafora body disease [RCV001898542] Chr4:80203096 [GRCh38]
Chr4:81124250 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1503C>T (p.Phe501=) single nucleotide variant Early-onset Lafora body disease [RCV001956248] Chr4:80202965 [GRCh38]
Chr4:81124119 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.697C>G (p.Leu233Val) single nucleotide variant Early-onset Lafora body disease [RCV001875331] Chr4:80202159 [GRCh38]
Chr4:81123313 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1350G>T (p.Glu450Asp) single nucleotide variant Early-onset Lafora body disease [RCV001938148] Chr4:80202812 [GRCh38]
Chr4:81123966 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1447G>A (p.Ala483Thr) single nucleotide variant Early-onset Lafora body disease [RCV001923092] Chr4:80202909 [GRCh38]
Chr4:81124063 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1795G>A (p.Gly599Arg) single nucleotide variant Early-onset Lafora body disease [RCV001960178] Chr4:80203257 [GRCh38]
Chr4:81124411 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.715C>A (p.Pro239Thr) single nucleotide variant Early-onset Lafora body disease [RCV001954126] Chr4:80202177 [GRCh38]
Chr4:81123331 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1777G>C (p.Ala593Pro) single nucleotide variant Early-onset Lafora body disease [RCV002051320] Chr4:80203239 [GRCh38]
Chr4:81124393 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.612CGG[5] (p.Gly209dup) microsatellite Early-onset Lafora body disease [RCV001960083] Chr4:80202071..80202072 [GRCh38]
Chr4:81123225..81123226 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.514G>A (p.Ala172Thr) single nucleotide variant Early-onset Lafora body disease [RCV001916688] Chr4:80201976 [GRCh38]
Chr4:81123130 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.868GGC[6] (p.Gly294dup) microsatellite Early-onset Lafora body disease [RCV001903949] Chr4:80202327..80202328 [GRCh38]
Chr4:81123481..81123482 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1453G>T (p.Gly485Cys) single nucleotide variant Early-onset Lafora body disease [RCV001904016] Chr4:80202915 [GRCh38]
Chr4:81124069 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1109T>C (p.Leu370Pro) single nucleotide variant Early-onset Lafora body disease [RCV001996057] Chr4:80202571 [GRCh38]
Chr4:81123725 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1655C>T (p.Ala552Val) single nucleotide variant Early-onset Lafora body disease [RCV002050318] Chr4:80203117 [GRCh38]
Chr4:81124271 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1521T>C (p.Ser507=) single nucleotide variant Early-onset Lafora body disease [RCV002112106] Chr4:80202983 [GRCh38]
Chr4:81124137 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1446C>G (p.Ala482=) single nucleotide variant Early-onset Lafora body disease [RCV002187006] Chr4:80202908 [GRCh38]
Chr4:81124062 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.798G>A (p.Arg266=) single nucleotide variant Early-onset Lafora body disease [RCV002165973] Chr4:80202260 [GRCh38]
Chr4:81123414 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.220-20T>C single nucleotide variant Early-onset Lafora body disease [RCV002091847] Chr4:80201270 [GRCh38]
Chr4:81122424 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1275C>T (p.Pro425=) single nucleotide variant Early-onset Lafora body disease [RCV002126730] Chr4:80202737 [GRCh38]
Chr4:81123891 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1306C>T (p.Leu436=) single nucleotide variant Early-onset Lafora body disease [RCV002073774] Chr4:80202768 [GRCh38]
Chr4:81123922 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.750C>T (p.Ala250=) single nucleotide variant Early-onset Lafora body disease [RCV002084716] Chr4:80202212 [GRCh38]
Chr4:81123366 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1767T>A (p.Ala589=) single nucleotide variant Early-onset Lafora body disease [RCV002090872] Chr4:80203229 [GRCh38]
Chr4:81124383 [GRCh37]
Chr4:4q21.21		 likely benign
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
NM_001099403.2(PRDM8):c.1215C>T (p.Asp405=) single nucleotide variant Early-onset Lafora body disease [RCV002146617] Chr4:80202677 [GRCh38]
Chr4:81123831 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1698C>G (p.Gly566=) single nucleotide variant Early-onset Lafora body disease [RCV002174242] Chr4:80203160 [GRCh38]
Chr4:81124314 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.774C>T (p.Ser258=) single nucleotide variant Early-onset Lafora body disease [RCV002196929] Chr4:80202236 [GRCh38]
Chr4:81123390 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1437C>A (p.Gly479=) single nucleotide variant Early-onset Lafora body disease [RCV002133124] Chr4:80202899 [GRCh38]
Chr4:81124053 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.409T>C (p.Leu137=) single nucleotide variant Early-onset Lafora body disease [RCV002174409] Chr4:80201479 [GRCh38]
Chr4:81122633 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.750C>G (p.Ala250=) single nucleotide variant Early-onset Lafora body disease [RCV002132644] Chr4:80202212 [GRCh38]
Chr4:81123366 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.978C>A (p.Gly326=) single nucleotide variant Early-onset Lafora body disease [RCV002196574] Chr4:80202440 [GRCh38]
Chr4:81123594 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.363C>G (p.Ala121=) single nucleotide variant Early-onset Lafora body disease [RCV002168957] Chr4:80201433 [GRCh38]
Chr4:81122587 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1260C>T (p.Gly420=) single nucleotide variant Early-onset Lafora body disease [RCV002111420] Chr4:80202722 [GRCh38]
Chr4:81123876 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1218C>G (p.Gly406=) single nucleotide variant Early-onset Lafora body disease [RCV002110206] Chr4:80202680 [GRCh38]
Chr4:81123834 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1782G>A (p.Ala594=) single nucleotide variant Early-onset Lafora body disease [RCV002093810]|not provided [RCV003434428] Chr4:80203244 [GRCh38]
Chr4:81124398 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.369C>T (p.Asp123=) single nucleotide variant Early-onset Lafora body disease [RCV002169839] Chr4:80201439 [GRCh38]
Chr4:81122593 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.451+20G>A single nucleotide variant Early-onset Lafora body disease [RCV002210758] Chr4:80201541 [GRCh38]
Chr4:81122695 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.630A>G (p.Lys210=) single nucleotide variant Early-onset Lafora body disease [RCV002110501] Chr4:80202092 [GRCh38]
Chr4:81123246 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1422T>G (p.Gly474=) single nucleotide variant Early-onset Lafora body disease [RCV002082870] Chr4:80202884 [GRCh38]
Chr4:81124038 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.220-17T>A single nucleotide variant Early-onset Lafora body disease [RCV002218437] Chr4:80201273 [GRCh38]
Chr4:81122427 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1476C>G (p.Ala492=) single nucleotide variant Early-onset Lafora body disease [RCV002122133] Chr4:80202938 [GRCh38]
Chr4:81124092 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1104C>T (p.Gly368=) single nucleotide variant Early-onset Lafora body disease [RCV002179704] Chr4:80202566 [GRCh38]
Chr4:81123720 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1677C>T (p.Cys559=) single nucleotide variant Early-onset Lafora body disease [RCV002158781] Chr4:80203139 [GRCh38]
Chr4:81124293 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1659G>A (p.Ala553=) single nucleotide variant Early-onset Lafora body disease [RCV002123267] Chr4:80203121 [GRCh38]
Chr4:81124275 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.2022C>T (p.Ser674=) single nucleotide variant Early-onset Lafora body disease [RCV002082292] Chr4:80203484 [GRCh38]
Chr4:81124638 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1167G>C (p.Val389=) single nucleotide variant Early-onset Lafora body disease [RCV002202578] Chr4:80202629 [GRCh38]
Chr4:81123783 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.57A>G (p.Gln19=) single nucleotide variant Early-onset Lafora body disease [RCV002098095] Chr4:80200137 [GRCh38]
Chr4:81121291 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.219+17G>A single nucleotide variant Early-onset Lafora body disease [RCV002158091] Chr4:80200316 [GRCh38]
Chr4:81121470 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1155C>T (p.Ala385=) single nucleotide variant Early-onset Lafora body disease [RCV002182978] Chr4:80202617 [GRCh38]
Chr4:81123771 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.452-19G>T single nucleotide variant Early-onset Lafora body disease [RCV002203637] Chr4:80201895 [GRCh38]
Chr4:81123049 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.452-15T>C single nucleotide variant Early-onset Lafora body disease [RCV002102729] Chr4:80201899 [GRCh38]
Chr4:81123053 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1569C>G (p.Leu523=) single nucleotide variant Early-onset Lafora body disease [RCV002144674] Chr4:80203031 [GRCh38]
Chr4:81124185 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1192C>T (p.Leu398=) single nucleotide variant Early-onset Lafora body disease [RCV003112222] Chr4:80202654 [GRCh38]
Chr4:81123808 [GRCh37]
Chr4:4q21.21		 likely benign
NC_000004.11:g.(?_81121235)_(81124686_?)dup duplication Early-onset Lafora body disease [RCV003119974] Chr4:81121235..81124686 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1245C>G (p.Asp415Glu) single nucleotide variant not specified [RCV004322500] Chr4:80202707 [GRCh38]
Chr4:81123861 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.656C>A (p.Ala219Glu) single nucleotide variant not specified [RCV004322445] Chr4:80202118 [GRCh38]
Chr4:81123272 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1508A>G (p.Gln503Arg) single nucleotide variant Early-onset Lafora body disease [RCV002296379] Chr4:80202970 [GRCh38]
Chr4:81124124 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1853C>T (p.Ser618Leu) single nucleotide variant not specified [RCV004233654] Chr4:80203315 [GRCh38]
Chr4:81124469 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.259A>G (p.Met87Val) single nucleotide variant Early-onset Lafora body disease [RCV002839477] Chr4:80201329 [GRCh38]
Chr4:81122483 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1006T>G (p.Phe336Val) single nucleotide variant not specified [RCV004142058] Chr4:80202468 [GRCh38]
Chr4:81123622 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1790C>T (p.Ala597Val) single nucleotide variant Early-onset Lafora body disease [RCV003077037] Chr4:80203252 [GRCh38]
Chr4:81124406 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1229C>A (p.Ala410Asp) single nucleotide variant Early-onset Lafora body disease [RCV003075374] Chr4:80202691 [GRCh38]
Chr4:81123845 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1611C>G (p.Leu537=) single nucleotide variant Early-onset Lafora body disease [RCV002730270] Chr4:80203073 [GRCh38]
Chr4:81124227 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1428C>A (p.Gly476=) single nucleotide variant Early-onset Lafora body disease [RCV002750918] Chr4:80202890 [GRCh38]
Chr4:81124044 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.581G>A (p.Gly194Asp) single nucleotide variant Early-onset Lafora body disease [RCV003074976]|not specified [RCV004071717] Chr4:80202043 [GRCh38]
Chr4:81123197 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1343G>C (p.Arg448Pro) single nucleotide variant Early-onset Lafora body disease [RCV003016370] Chr4:80202805 [GRCh38]
Chr4:81123959 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.767A>C (p.Lys256Thr) single nucleotide variant not specified [RCV004108289] Chr4:80202229 [GRCh38]
Chr4:81123383 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1177G>A (p.Ala393Thr) single nucleotide variant Early-onset Lafora body disease [RCV003013696] Chr4:80202639 [GRCh38]
Chr4:81123793 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1305G>C (p.Lys435Asn) single nucleotide variant Early-onset Lafora body disease [RCV002640007] Chr4:80202767 [GRCh38]
Chr4:81123921 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1535C>A (p.Ser512Tyr) single nucleotide variant Early-onset Lafora body disease [RCV002871533] Chr4:80202997 [GRCh38]
Chr4:81124151 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1845C>T (p.Ser615=) single nucleotide variant Early-onset Lafora body disease [RCV002914114] Chr4:80203307 [GRCh38]
Chr4:81124461 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.172A>G (p.Ile58Val) single nucleotide variant Early-onset Lafora body disease [RCV003077126] Chr4:80200252 [GRCh38]
Chr4:81121406 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1290G>A (p.Pro430=) single nucleotide variant Early-onset Lafora body disease [RCV002886167] Chr4:80202752 [GRCh38]
Chr4:81123906 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.502T>C (p.Phe168Leu) single nucleotide variant Early-onset Lafora body disease [RCV002820251] Chr4:80201964 [GRCh38]
Chr4:81123118 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.666C>T (p.Gly222=) single nucleotide variant Early-onset Lafora body disease [RCV003035737] Chr4:80202128 [GRCh38]
Chr4:81123282 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1385C>T (p.Ser462Leu) single nucleotide variant not specified [RCV004161213] Chr4:80202847 [GRCh38]
Chr4:81124001 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.36T>G (p.Asp12Glu) single nucleotide variant Early-onset Lafora body disease [RCV002736459]|not specified [RCV004067881] Chr4:80200116 [GRCh38]
Chr4:81121270 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1455_1463del (p.483AGG[1]) deletion Early-onset Lafora body disease [RCV002985646] Chr4:80202912..80202920 [GRCh38]
Chr4:81124066..81124074 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1517G>C (p.Arg506Pro) single nucleotide variant not specified [RCV004125460] Chr4:80202979 [GRCh38]
Chr4:81124133 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.996C>G (p.Gly332=) single nucleotide variant Early-onset Lafora body disease [RCV002791472] Chr4:80202458 [GRCh38]
Chr4:81123612 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1084T>C (p.Phe362Leu) single nucleotide variant Early-onset Lafora body disease [RCV002745310] Chr4:80202546 [GRCh38]
Chr4:81123700 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1184C>T (p.Ala395Val) single nucleotide variant Early-onset Lafora body disease [RCV002745858] Chr4:80202646 [GRCh38]
Chr4:81123800 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.886C>T (p.Gln296Ter) single nucleotide variant Early-onset Lafora body disease [RCV003043503] Chr4:80202348 [GRCh38]
Chr4:81123502 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.796A>T (p.Arg266Trp) single nucleotide variant Early-onset Lafora body disease [RCV002701039] Chr4:80202258 [GRCh38]
Chr4:81123412 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1465G>C (p.Gly489Arg) single nucleotide variant Early-onset Lafora body disease [RCV003023844] Chr4:80202927 [GRCh38]
Chr4:81124081 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1441G>C (p.Gly481Arg) single nucleotide variant Early-onset Lafora body disease [RCV003083590] Chr4:80202903 [GRCh38]
Chr4:81124057 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.649C>G (p.Gln217Glu) single nucleotide variant Early-onset Lafora body disease [RCV002595566] Chr4:80202111 [GRCh38]
Chr4:81123265 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1526C>T (p.Ser509Leu) single nucleotide variant Early-onset Lafora body disease [RCV002700155] Chr4:80202988 [GRCh38]
Chr4:81124142 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1017G>T (p.Arg339=) single nucleotide variant Early-onset Lafora body disease [RCV003082240] Chr4:80202479 [GRCh38]
Chr4:81123633 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1461C>T (p.Gly487=) single nucleotide variant Early-onset Lafora body disease [RCV003005774] Chr4:80202923 [GRCh38]
Chr4:81124077 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1950G>A (p.Lys650=) single nucleotide variant Early-onset Lafora body disease [RCV002595690] Chr4:80203412 [GRCh38]
Chr4:81124566 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.23G>A (p.Arg8Gln) single nucleotide variant not specified [RCV004125461] Chr4:80200103 [GRCh38]
Chr4:81121257 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1013A>C (p.Glu338Ala) single nucleotide variant not specified [RCV004126739] Chr4:80202475 [GRCh38]
Chr4:81123629 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1478C>G (p.Ala493Gly) single nucleotide variant Early-onset Lafora body disease [RCV003022310] Chr4:80202940 [GRCh38]
Chr4:81124094 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1338C>T (p.Pro446=) single nucleotide variant Early-onset Lafora body disease [RCV002829984] Chr4:80202800 [GRCh38]
Chr4:81123954 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1833G>C (p.Leu611=) single nucleotide variant Early-onset Lafora body disease [RCV002829496] Chr4:80203295 [GRCh38]
Chr4:81124449 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.995G>A (p.Gly332Asp) single nucleotide variant Early-onset Lafora body disease [RCV002602496] Chr4:80202457 [GRCh38]
Chr4:81123611 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.219+17G>T single nucleotide variant Early-onset Lafora body disease [RCV003029933] Chr4:80200316 [GRCh38]
Chr4:81121470 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1665G>A (p.Leu555=) single nucleotide variant Early-onset Lafora body disease [RCV003088888] Chr4:80203127 [GRCh38]
Chr4:81124281 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.601G>A (p.Asp201Asn) single nucleotide variant not specified [RCV004126947] Chr4:80202063 [GRCh38]
Chr4:81123217 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1766C>T (p.Ala589Val) single nucleotide variant Early-onset Lafora body disease [RCV003092082] Chr4:80203228 [GRCh38]
Chr4:81124382 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.951G>A (p.Pro317=) single nucleotide variant Early-onset Lafora body disease [RCV002599728] Chr4:80202413 [GRCh38]
Chr4:81123567 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1284G>A (p.Ala428=) single nucleotide variant Early-onset Lafora body disease [RCV002628725] Chr4:80202746 [GRCh38]
Chr4:81123900 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1260C>G (p.Gly420=) single nucleotide variant Early-onset Lafora body disease [RCV003029444] Chr4:80202722 [GRCh38]
Chr4:81123876 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.649C>A (p.Gln217Lys) single nucleotide variant Early-onset Lafora body disease [RCV002715612] Chr4:80202111 [GRCh38]
Chr4:81123265 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.85G>A (p.Val29Ile) single nucleotide variant Early-onset Lafora body disease [RCV002770472] Chr4:80200165 [GRCh38]
Chr4:81121319 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1546C>T (p.Leu516=) single nucleotide variant Early-onset Lafora body disease [RCV003090816] Chr4:80203008 [GRCh38]
Chr4:81124162 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.424C>T (p.Pro142Ser) single nucleotide variant Early-onset Lafora body disease [RCV003029328] Chr4:80201494 [GRCh38]
Chr4:81122648 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1002C>G (p.Gly334=) single nucleotide variant Early-onset Lafora body disease [RCV003028521] Chr4:80202464 [GRCh38]
Chr4:81123618 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1042C>A (p.Leu348Met) single nucleotide variant Early-onset Lafora body disease [RCV003031515] Chr4:80202504 [GRCh38]
Chr4:81123658 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.34G>T (p.Asp12Tyr) single nucleotide variant not specified [RCV004164639] Chr4:80200114 [GRCh38]
Chr4:81121268 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1871A>C (p.Gln624Pro) single nucleotide variant Early-onset Lafora body disease [RCV002581434] Chr4:80203333 [GRCh38]
Chr4:81124487 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.865_873dup (p.Gly291_Gly292insSerGlyGly) duplication Early-onset Lafora body disease [RCV003030027] Chr4:80202321..80202322 [GRCh38]
Chr4:81123475..81123476 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.509A>G (p.Tyr170Cys) single nucleotide variant not specified [RCV004108114] Chr4:80201971 [GRCh38]
Chr4:81123125 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1270A>C (p.Thr424Pro) single nucleotide variant Early-onset Lafora body disease [RCV002962831] Chr4:80202732 [GRCh38]
Chr4:81123886 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.929G>T (p.Gly310Val) single nucleotide variant Early-onset Lafora body disease [RCV003069925] Chr4:80202391 [GRCh38]
Chr4:81123545 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1649A>C (p.Gln550Pro) single nucleotide variant Early-onset Lafora body disease [RCV003071316] Chr4:80203111 [GRCh38]
Chr4:81124265 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.331C>G (p.Gln111Glu) single nucleotide variant Early-onset Lafora body disease [RCV002653629] Chr4:80201401 [GRCh38]
Chr4:81122555 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1959G>T (p.Ala653=) single nucleotide variant Early-onset Lafora body disease [RCV002608568] Chr4:80203421 [GRCh38]
Chr4:81124575 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1511_1531dup (p.Gln510_Leu511insProAlaArgSerPheSerGln) duplication Early-onset Lafora body disease [RCV002942431] Chr4:80202962..80202963 [GRCh38]
Chr4:81124116..81124117 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1764C>T (p.Ala588=) single nucleotide variant Early-onset Lafora body disease [RCV002606677] Chr4:80203226 [GRCh38]
Chr4:81124380 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1079G>T (p.Ser360Ile) single nucleotide variant Early-onset Lafora body disease [RCV002604250] Chr4:80202541 [GRCh38]
Chr4:81123695 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1644G>T (p.Lys548Asn) single nucleotide variant not specified [RCV004324512] Chr4:80203106 [GRCh38]
Chr4:81124260 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 copy number loss Chromosome 4q21 deletion syndrome [RCV003327709] Chr4:79123548..99457773 [GRCh38]
Chr4:4q21.21-23		 pathogenic
NM_001099403.2(PRDM8):c.1981C>T (p.Arg661Trp) single nucleotide variant not specified [RCV004346060] Chr4:80203443 [GRCh38]
Chr4:81124597 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.747C>T (p.Ala249=) single nucleotide variant not provided [RCV003435050] Chr4:80202209 [GRCh38]
Chr4:81123363 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1875C>T (p.Asn625=) single nucleotide variant Early-onset Lafora body disease [RCV003877101] Chr4:80203337 [GRCh38]
Chr4:81124491 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1638G>T (p.Ala546=) single nucleotide variant Early-onset Lafora body disease [RCV003882242] Chr4:80203100 [GRCh38]
Chr4:81124254 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1392G>T (p.Pro464=) single nucleotide variant Early-onset Lafora body disease [RCV003834534] Chr4:80202854 [GRCh38]
Chr4:81124008 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1167G>T (p.Val389=) single nucleotide variant Early-onset Lafora body disease [RCV003755675] Chr4:80202629 [GRCh38]
Chr4:81123783 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.573C>T (p.Asp191=) single nucleotide variant Early-onset Lafora body disease [RCV003756305] Chr4:80202035 [GRCh38]
Chr4:81123189 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1362T>G (p.Pro454=) single nucleotide variant Early-onset Lafora body disease [RCV003755997] Chr4:80202824 [GRCh38]
Chr4:81123978 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.687A>G (p.Lys229=) single nucleotide variant Early-onset Lafora body disease [RCV003592810] Chr4:80202149 [GRCh38]
Chr4:81123303 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1434G>A (p.Thr478=) single nucleotide variant Early-onset Lafora body disease [RCV003756385] Chr4:80202896 [GRCh38]
Chr4:81124050 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.219+13T>C single nucleotide variant Early-onset Lafora body disease [RCV003755157] Chr4:80200312 [GRCh38]
Chr4:81121466 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1743C>T (p.Phe581=) single nucleotide variant Early-onset Lafora body disease [RCV003756317] Chr4:80203205 [GRCh38]
Chr4:81124359 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.504C>T (p.Phe168=) single nucleotide variant Early-onset Lafora body disease [RCV003755421] Chr4:80201966 [GRCh38]
Chr4:81123120 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.556G>C (p.Asp186His) single nucleotide variant Early-onset Lafora body disease [RCV003756180] Chr4:80202018 [GRCh38]
Chr4:81123172 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1881C>T (p.Cys627=) single nucleotide variant Early-onset Lafora body disease [RCV003756113] Chr4:80203343 [GRCh38]
Chr4:81124497 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.81C>T (p.Thr27=) single nucleotide variant Early-onset Lafora body disease [RCV003755516] Chr4:80200161 [GRCh38]
Chr4:81121315 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.591G>T (p.Val197=) single nucleotide variant Early-onset Lafora body disease [RCV003855916] Chr4:80202053 [GRCh38]
Chr4:81123207 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1245C>T (p.Asp415=) single nucleotide variant Early-onset Lafora body disease [RCV003834683] Chr4:80202707 [GRCh38]
Chr4:81123861 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.207G>A (p.Pro69=) single nucleotide variant Early-onset Lafora body disease [RCV003756157] Chr4:80200287 [GRCh38]
Chr4:81121441 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.564T>C (p.Ser188=) single nucleotide variant Early-onset Lafora body disease [RCV003755089] Chr4:80202026 [GRCh38]
Chr4:81123180 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1158C>T (p.Phe386=) single nucleotide variant Early-onset Lafora body disease [RCV003814656] Chr4:80202620 [GRCh38]
Chr4:81123774 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1692C>T (p.Ser564=) single nucleotide variant Early-onset Lafora body disease [RCV003755944] Chr4:80203154 [GRCh38]
Chr4:81124308 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1224A>G (p.Gly408=) single nucleotide variant Early-onset Lafora body disease [RCV003592602] Chr4:80202686 [GRCh38]
Chr4:81123840 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1725C>T (p.Phe575=) single nucleotide variant Early-onset Lafora body disease [RCV003849585] Chr4:80203187 [GRCh38]
Chr4:81124341 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1680G>A (p.Gly560=) single nucleotide variant Early-onset Lafora body disease [RCV003833112] Chr4:80203142 [GRCh38]
Chr4:81124296 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1839G>T (p.Pro613=) single nucleotide variant Early-onset Lafora body disease [RCV003864965] Chr4:80203301 [GRCh38]
Chr4:81124455 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1986A>G (p.Arg662=) single nucleotide variant Early-onset Lafora body disease [RCV003863976] Chr4:80203448 [GRCh38]
Chr4:81124602 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1497C>T (p.Ser499=) single nucleotide variant Early-onset Lafora body disease [RCV003591255] Chr4:80202959 [GRCh38]
Chr4:81124113 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.633C>T (p.Asp211=) single nucleotide variant Early-onset Lafora body disease [RCV003591285] Chr4:80202095 [GRCh38]
Chr4:81123249 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.945A>G (p.Lys315=) single nucleotide variant Early-onset Lafora body disease [RCV003866320] Chr4:80202407 [GRCh38]
Chr4:81123561 [GRCh37]
Chr4:4q21.21		 likely benign
NM_001099403.2(PRDM8):c.1430G>A (p.Gly477Glu) single nucleotide variant not specified [RCV004512867] Chr4:80202892 [GRCh38]
Chr4:81124046 [GRCh37]
Chr4:4q21.21		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_001099403.2(PRDM8):c.1255G>C (p.Gly419Arg) single nucleotide variant not specified [RCV004512865] Chr4:80202717 [GRCh38]
Chr4:81123871 [GRCh37]
Chr4:4q21.21		 uncertain significance
NM_001099403.2(PRDM8):c.1427G>A (p.Gly476Asp) single nucleotide variant not specified [RCV004512866] Chr4:80202889 [GRCh38]
Chr4:81124043 [GRCh37]
Chr4:4q21.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3026
Count of miRNA genes:947
Interacting mature miRNAs:1132
Transcripts:ENST00000339711, ENST00000415738, ENST00000504452, ENST00000506547, ENST00000507025, ENST00000508061, ENST00000508965, ENST00000509375, ENST00000511825, ENST00000515013
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
G42343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37481,123,551 - 81,123,716UniSTSGRCh37
Build 36481,342,575 - 81,342,740RGDNCBI36
Celera478,417,063 - 78,417,228RGD
Cytogenetic Map4q21UniSTS
HuRef476,867,546 - 76,867,711UniSTS
PRDM8_8072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37481,124,462 - 81,125,383UniSTSGRCh37
Build 36481,343,486 - 81,344,407RGDNCBI36
Celera478,417,974 - 78,418,895RGD
HuRef476,868,457 - 76,869,378UniSTS
SHGC-67366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37481,123,551 - 81,123,668UniSTSGRCh37
Build 36481,342,575 - 81,342,692RGDNCBI36
Celera478,417,063 - 78,417,180RGD
Cytogenetic Map4q21UniSTS
HuRef476,867,546 - 76,867,663UniSTS
GeneMap99-GB4 RH Map4446.49UniSTS


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
High
Medium 1406 92 73 3 183 4 325 810 886 23 528 82 1 131 184
Low 950 2666 1111 213 1407 55 3728 1192 2714 232 815 1435 168 1 1072 2543 3
Below cutoff 58 230 502 372 287 372 142 188 125 154 92 79 3 1 61

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001099403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF275815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI077328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP219935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339711   ⟹   ENSP00000339764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,185,270 - 80,204,326 (+)Ensembl
RefSeq Acc Id: ENST00000415738   ⟹   ENSP00000406998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,197,503 - 80,204,329 (+)Ensembl
RefSeq Acc Id: ENST00000504452   ⟹   ENSP00000423985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,184,285 - 80,204,329 (+)Ensembl
RefSeq Acc Id: ENST00000506547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,184,264 - 80,196,419 (+)Ensembl
RefSeq Acc Id: ENST00000507025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,185,368 - 80,196,497 (+)Ensembl
RefSeq Acc Id: ENST00000508061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,184,302 - 80,196,601 (+)Ensembl
RefSeq Acc Id: ENST00000508965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,183,879 - 80,196,598 (+)Ensembl
RefSeq Acc Id: ENST00000509375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,183,881 - 80,197,121 (+)Ensembl
RefSeq Acc Id: ENST00000511825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,184,285 - 80,197,195 (+)Ensembl
RefSeq Acc Id: ENST00000515013   ⟹   ENSP00000425149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl480,185,270 - 80,202,745 (+)Ensembl
RefSeq Acc Id: NM_001099403   ⟹   NP_001092873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38480,197,503 - 80,204,329 (+)NCBI
GRCh37481,105,033 - 81,125,483 (+)NCBI
Build 36481,337,681 - 81,344,507 (+)NCBI Archive
Celera478,399,921 - 78,418,995 (+)RGD
HuRef476,850,375 - 76,869,478 (+)RGD
CHM1_1481,095,152 - 81,101,978 (+)NCBI
T2T-CHM13v2.0483,527,913 - 83,534,739 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020226   ⟹   NP_064611
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38480,185,270 - 80,204,329 (+)NCBI
GRCh37481,105,033 - 81,125,483 (+)NCBI
Build 36481,325,448 - 81,344,507 (+)NCBI Archive
Celera478,399,921 - 78,418,995 (+)RGD
HuRef476,850,375 - 76,869,478 (+)RGD
CHM1_1481,082,918 - 81,101,978 (+)NCBI
T2T-CHM13v2.0483,515,641 - 83,534,739 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_064611   ⟸   NM_020226
- UniProtKB: A8K7X2 (UniProtKB/Swiss-Prot),   Q6IQ36 (UniProtKB/Swiss-Prot),   Q9NQV8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001092873   ⟸   NM_001099403
- UniProtKB: A8K7X2 (UniProtKB/Swiss-Prot),   Q6IQ36 (UniProtKB/Swiss-Prot),   Q9NQV8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000423985   ⟸   ENST00000504452
RefSeq Acc Id: ENSP00000406998   ⟸   ENST00000415738
RefSeq Acc Id: ENSP00000339764   ⟸   ENST00000339711
RefSeq Acc Id: ENSP00000425149   ⟸   ENST00000515013
Protein Domains
SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQV8-F1-model_v2 AlphaFold Q9NQV8 1-689 view protein structure

Promoters
RGD ID:6867836
Promoter ID:EPDNEW_H7082
Type:initiation region
Name:PRDM8_3
Description:PR/SET domain 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7083  EPDNEW_H7084  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38480,183,341 - 80,183,401EPDNEW
RGD ID:6867838
Promoter ID:EPDNEW_H7083
Type:initiation region
Name:PRDM8_2
Description:PR/SET domain 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7082  EPDNEW_H7084  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38480,183,879 - 80,183,939EPDNEW
RGD ID:6867840
Promoter ID:EPDNEW_H7084
Type:multiple initiation site
Name:PRDM8_1
Description:PR/SET domain 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7082  EPDNEW_H7083  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38480,197,503 - 80,197,563EPDNEW
RGD ID:6802543
Promoter ID:HG_KWN:48592
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:UC010IJO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36481,324,076 - 81,324,576 (+)MPROMDB
RGD ID:6802546
Promoter ID:HG_KWN:48593
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:ENST00000282699,   NM_020226
Position:
Human AssemblyChrPosition (strand)Source
Build 36481,324,626 - 81,325,332 (+)MPROMDB
RGD ID:6802542
Promoter ID:HG_KWN:48594
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_001099403
Position:
Human AssemblyChrPosition (strand)Source
Build 36481,337,319 - 81,337,819 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13993 AgrOrtholog
COSMIC PRDM8 COSMIC
Ensembl Genes ENSG00000152784 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339711 ENTREZGENE
  ENST00000339711.8 UniProtKB/Swiss-Prot
  ENST00000415738 ENTREZGENE
  ENST00000415738.3 UniProtKB/Swiss-Prot
  ENST00000504452.5 UniProtKB/Swiss-Prot
  ENST00000515013.5 UniProtKB/TrEMBL
Gene3D-CATH 2.170.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot
GTEx ENSG00000152784 GTEx
HGNC ID HGNC:13993 ENTREZGENE
Human Proteome Map PRDM8 Human Proteome Map
InterPro PRDM8_PR/SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:56978 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56978 ENTREZGENE
OMIM 616639 OMIM
PANTHER AGAP007109-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PR DOMAIN ZINC FINGER PROTEIN 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRDM2_PR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2_4 UniProtKB/Swiss-Prot
PharmGKB PA33720 PharmGKB
PROSITE SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
  SSF82199 UniProtKB/TrEMBL
UniProt A8K7X2 ENTREZGENE
  E9PEH0_HUMAN UniProtKB/TrEMBL
  PRDM8_HUMAN UniProtKB/Swiss-Prot
  Q05CA1_HUMAN UniProtKB/TrEMBL
  Q6IQ36 ENTREZGENE
  Q9NQV8 ENTREZGENE
UniProt Secondary A8K7X2 UniProtKB/Swiss-Prot
  Q6IQ36 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 PRDM8  PR/SET domain 8    PR domain 8  Symbol and/or name change 5135510 APPROVED
2016-02-02 PRDM8  PR domain 8    PR domain containing 8  Symbol and/or name change 5135510 APPROVED