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Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
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Gene Annotator (Annotation Comparison) |
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MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Annotations - OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| neuronal ceroid lipofuscinosis 4B | IAGP | 7240710 | OMIM | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene-Chemical Interaction AnnotationsGene Ontology AnnotationsMolecular Pathway AnnotationsPhenotype AnnotationsDisease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway AnnotationsPhenotype Annotations
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References - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | OMIM Disease Annotation Pipeline |
| 3. | Pipeline to import KEGG annotations from KEGG into RGD |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
| 6. | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
References - uncurated| PubMed | 2663281 3284607 8764987 10099709 10194413 11214971 11604405 11780052 12039948 12477932 14570907 14702039 14997482 15217342 15489334 15610015 15972823 16469739 16751776 16857740 17897319 18029348 18314541 18596047 19098309 19946888 20301334 20301601 20453918 20833797 21037258 21674799 21820099 22073189 22235333 22902780 22939629 22978711 23376485 23535732 24047968 24126164 25631211 26186194 26610600 26659577 27261198 27452402 28127059 28424476 28514442 28740222 28846114 29117863 29167402 29506599 29997244 30561534 |
Comparative Map Data| DNAJC5 (Homo sapiens - human) |
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| Dnajc5 (Mus musculus - house mouse) |
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| Dnajc5 (Rattus norvegicus - Norway rat) |
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| Dnajc5 (Chinchilla lanigera - long-tailed chinchilla) |
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| DNAJC5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| Dnajc5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| DNAJC5 (Sus scrofa - pig) |
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Position Markers| RH39006 |
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| RH47533 |
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| RH64138 |
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miRNA Target Status
| 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. |
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Nucleotide Sequences| RefSeq Transcripts | NG_029805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_025219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011529048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_011529049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_936629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_936630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AK023132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| AK024508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK074041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK128776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AK289585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL118506 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| AL137301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC009922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC028570 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC053642 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH471077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CR627461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DB452738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ596824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| DQ600661 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| KF456985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_025219 ⟹ NP_079495 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GGGAGCGCGCGCGCCGGTGCGGGTGCGTGCGTGAGCGTGCTCGTCTCCGCTGCCGCTGCCGCTGhide sequence |
| RefSeq Acc Id: | XM_011529048 ⟹ XP_011527350 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
CCTATTCAGATTTTCTATTTCATGTCAGTCTTGGTAAATTGTAATTTTCAAGATATTTGTCCAThide sequence |
| RefSeq Acc Id: | XM_011529049 ⟹ XP_011527351 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
ATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCChide sequence |
| RefSeq Acc Id: | XR_936629 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
CAGGCCTATTCAGATTTTCTATTTCATGTCAGTCTTGGTAAATTGTAATTTTCAAGATATTTGThide sequence |
| RefSeq Acc Id: | XR_936630 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
ATGTGCCCAGGGCCCGGGACAGCGCCACGGAAGAGGACGCACCCGGCTGTGTGCACATGTGCCChide sequence |
Protein Sequences| Protein RefSeqs | NP_079495 | (Get FASTA) | NCBI Sequence Viewer |
| XP_011527350 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011527351 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH53642 | (Get FASTA) | NCBI Sequence Viewer |
| BAB15798 | (Get FASTA) | NCBI Sequence Viewer | |
| BAB84867 | (Get FASTA) | NCBI Sequence Viewer | |
| BAF82274 | (Get FASTA) | NCBI Sequence Viewer | |
| BAG54730 | (Get FASTA) | NCBI Sequence Viewer | |
| CAH10594 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW75191 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW75192 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW75193 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9H3Z4 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_079495 ⟸ NM_025219 |
| - UniProtKB: | Q9H3Z4 (UniProtKB/Swiss-Prot), Q6AHX3 (UniProtKB/TrEMBL) |
| - Sequence: |
MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHhide sequence |
| RefSeq Acc Id: | XP_011527351 ⟸ XM_011529049 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9H3Z4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHhide sequence |
| RefSeq Acc Id: | XP_011527350 ⟸ XM_011529048 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q9H3Z4 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHhide sequence |
Promoters| RGD ID: | 6798674 | |||||||||
| Promoter ID: | HG_KWN:40221 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | |||||||||
| Transcripts: | ENST00000369911, OTTHUMT00000080244, OTTHUMT00000080245, UC002YHG.1 | |||||||||
| Position: |
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| RGD ID: | 6798519 | |||||||||
| Promoter ID: | HG_KWN:40224 | |||||||||
| Type: | CpG-Island | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | MPROMDB | |||||||||
| Tissues & Cell Lines: | CD4+TCell, Lymphoblastoid | |||||||||
| Transcripts: | UC002YHI.1 | |||||||||
| Position: |
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| RGD ID: | 13602452 | |||||||||
| Promoter ID: | EPDNEW_H27410 | |||||||||
| Type: | initiation region | |||||||||
| Name: | DNAJC5_5 | |||||||||
| Description: | DnaJ heat shock protein family member C5 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 13602454 | |||||||||
| Promoter ID: | EPDNEW_H27411 | |||||||||
| Type: | initiation region | |||||||||
| Name: | DNAJC5_1 | |||||||||
| Description: | DnaJ heat shock protein family member C5 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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| RGD ID: | 13602456 | |||||||||
| Promoter ID: | EPDNEW_H27412 | |||||||||
| Type: | multiple initiation site | |||||||||
| Name: | DNAJC5_2 | |||||||||
| Description: | DnaJ heat shock protein family member C5 | |||||||||
| SO ACC ID: | SO:0000170 | |||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
| Experiment Methods: | Single-end sequencing. | |||||||||
| Position: |
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Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| NM_025219.3(DNAJC5):c.343_345CTC[1] (p.Leu116del) | microsatellite | Ceroid lipofuscinosis neuronal 4B autosomal dominant [RCV000023878]|Neuronal ceroid lipofuscinosis [RCV000632720] | Chr20:63930875..63930877 [GRCh38] Chr20:62562228..62562230 [GRCh37] Chr20:20q13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.-12+1_-12+28del | deletion | not specified [RCV000520082] | Chr20:63895324..63895351 [GRCh38] Chr20:62526677..62526704 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.344T>G (p.Leu115Arg) | single nucleotide variant | Ceroid lipofuscinosis neuronal 4B autosomal dominant [RCV000023879] | Chr20:63930873 [GRCh38] Chr20:62562226 [GRCh37] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 | copy number gain | Global developmental delay [RCV000051131]|See cases [RCV000051131] | Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050998]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050998]|See cases [RCV000050998] | Chr20:63827808..64100279 [GRCh38] Chr20:62459161..62731632 [GRCh37] Chr20:61929605..62202076 [NCBI36] Chr20:20q13.33 |
uncertain significance |
| GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052769]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052769]|See cases [RCV000052769] | Chr20:62545370..64241486 [GRCh38] Chr20:61142577..62872839 [GRCh37] Chr20:60553022..62343283 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|See cases [RCV000052772] | Chr20:63441478..64277321 [GRCh38] Chr20:62072831..62908674 [GRCh37] Chr20:61543275..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053035]|Abnormality of the heart [RCV000053036]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053035]|See cases [RCV000053035] | Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.321+20C>T | single nucleotide variant | not provided [RCV000675870]|not specified [RCV000124752] | Chr20:63929545 [GRCh38] Chr20:62560898 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.322-10C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000325825]|not provided [RCV000675871]|not specified [RCV000124753] | Chr20:63930841 [GRCh38] Chr20:62562194 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.501A>G (p.Thr167=) | single nucleotide variant | not specified [RCV000124754] | Chr20:63931472 [GRCh38] Chr20:62562825 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000270799]|Neuronal ceroid lipofuscinosis [RCV000464005]|Seizures [RCV000715935]|not provided [RCV000675868]|not specified [RCV000177347] | Chr20:63929348 [GRCh38] Chr20:62560701 [GRCh37] Chr20:20q13.33 |
benign |
| GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 | copy number gain | See cases [RCV000051131] | Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 | copy number loss | See cases [RCV000133842] | Chr20:62561794..64277321 [GRCh38] Chr20:61211869..62908674 [GRCh37] Chr20:60569446..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 | copy number gain | See cases [RCV000135859] | Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
| GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 | copy number gain | See cases [RCV000135805] | Chr20:59041966..64277321 [GRCh38] Chr20:57617021..62908674 [GRCh37] Chr20:57050416..62379118 [NCBI36] Chr20:20q13.32-13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1 | copy number loss | See cases [RCV000135514] | Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33 |
likely pathogenic |
| GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1 | copy number loss | See cases [RCV000137385] | Chr20:63153963..64277321 [GRCh38] Chr20:61785315..62908674 [GRCh37] Chr20:61255760..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 | copy number gain | See cases [RCV000138035] | Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 | copy number gain | See cases [RCV000139100] | Chr20:61326549..64277326 [GRCh38] Chr20:59901605..62908679 [GRCh37] Chr20:59335000..62379123 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 | copy number gain | See cases [RCV000141347] | Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 | copy number loss | See cases [RCV000141744] | Chr20:62582073..64284202 [GRCh38] Chr20:61179280..62915555 [GRCh37] Chr20:60589725..62385999 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3 | copy number gain | See cases [RCV000141762] | Chr20:63385523..64270639 [GRCh38] Chr20:62016875..62901992 [GRCh37] Chr20:61487319..62372436 [NCBI36] Chr20:20q13.33 |
uncertain significance |
| GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 | copy number loss | See cases [RCV000141676] | Chr20:62663307..64284202 [GRCh38] Chr20:61294659..62915555 [GRCh37] Chr20:60765104..62385999 [NCBI36] Chr20:20q13.33 |
pathogenic |
| GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 | copy number gain | See cases [RCV000143584] | Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33 |
likely pathogenic |
| NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala) | single nucleotide variant | not specified [RCV000187326] | Chr20:63928376 [GRCh38] Chr20:62559729 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe) | single nucleotide variant | not specified [RCV000187327] | Chr20:63928403 [GRCh38] Chr20:62559756 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.108-6T>G | single nucleotide variant | not specified [RCV000187329] | Chr20:63929306 [GRCh38] Chr20:62560659 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.187G>A (p.Ala63Thr) | single nucleotide variant | not specified [RCV000187330] | Chr20:63929391 [GRCh38] Chr20:62560744 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.45A>G (p.Ser15=) | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000399187]|Neuronal ceroid lipofuscinosis [RCV000464307]|Seizures [RCV000716567]|not specified [RCV000187321] | Chr20:63928390 [GRCh38] Chr20:62559743 [GRCh37] Chr20:20q13.33 |
benign|likely benign |
| NM_025219.3(DNAJC5):c.107+10C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000300399]|Neuronal ceroid lipofuscinosis [RCV000553668]|not specified [RCV000187322] | Chr20:63928462 [GRCh38] Chr20:62559815 [GRCh37] Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_025219.3(DNAJC5):c.132C>T (p.Pro44=) | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000360851]|Neuronal ceroid lipofuscinosis [RCV000470640]|Seizures [RCV000720529]|not specified [RCV000187323] | Chr20:63929336 [GRCh38] Chr20:62560689 [GRCh37] Chr20:20q13.33 |
benign|likely benign |
| NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000532483]|not provided [RCV000725992]|not specified [RCV000187324] | Chr20:63929357 [GRCh38] Chr20:62560710 [GRCh37] Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_025219.3(DNAJC5):c.456C>T (p.Pro152=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000457386]|Seizures [RCV000720314]|not specified [RCV000187325] | Chr20:63930985 [GRCh38] Chr20:62562338 [GRCh37] Chr20:20q13.33 |
benign|likely benign |
| NM_025219.3(DNAJC5):c.107+12A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000355205]|not specified [RCV000187328] | Chr20:63928464 [GRCh38] Chr20:62559817 [GRCh37] Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000552852]|not specified [RCV000187331] | Chr20:63930948 [GRCh38] Chr20:62562301 [GRCh37] Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_025219.3(DNAJC5):c.448G>C (p.Val150Leu) | single nucleotide variant | not specified [RCV000187332] | Chr20:63930977 [GRCh38] Chr20:62562330 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.491G>A (p.Arg164Lys) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000702501]|not specified [RCV000187333] | Chr20:63931020 [GRCh38] Chr20:62562373 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.108-3C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000265199]|not specified [RCV000187334] | Chr20:63929309 [GRCh38] Chr20:62560662 [GRCh37] Chr20:20q13.33 |
likely benign|uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1 | copy number loss | See cases [RCV000240214] | Chr20:61827144..62907526 [GRCh37] Chr20:20q13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.228C>T (p.Tyr76=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000232360]|not specified [RCV000436594] | Chr20:63929432 [GRCh38] Chr20:62560785 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.342C>T (p.Gly114=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000226129] | Chr20:63930871 [GRCh38] Chr20:62562224 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*728G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000268909] | Chr20:63932296 [GRCh38] Chr20:62563649 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4006C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000271523] | Chr20:63935574 [GRCh38] Chr20:62566927 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000290863]|not provided [RCV000726834]|not specified [RCV000438917] | Chr20:63930973 [GRCh38] Chr20:62562326 [GRCh37] Chr20:20q13.33 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_025219.3(DNAJC5):c.*2208C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000291836] | Chr20:63933776 [GRCh38] Chr20:62565129 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4065G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000274854] | Chr20:63935633 [GRCh38] Chr20:62566986 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*3204C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000293581] | Chr20:63934772 [GRCh38] Chr20:62566125 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3257C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000294684] | Chr20:63934825 [GRCh38] Chr20:62566178 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1235C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000342936] | Chr20:63932803 [GRCh38] Chr20:62564156 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1304G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000306881] | Chr20:63932872 [GRCh38] Chr20:62564225 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1556A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000354272] | Chr20:63933124 [GRCh38] Chr20:62564477 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4253C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000281799] | Chr20:63935821 [GRCh38] Chr20:62567174 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1137A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000281901] | Chr20:63932705 [GRCh38] Chr20:62564058 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*853C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000274550] | Chr20:63932421 [GRCh38] Chr20:62563774 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2601C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000311940] | Chr20:63934169 [GRCh38] Chr20:62565522 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1442A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000313583] | Chr20:63933010 [GRCh38] Chr20:62564363 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3629A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000361399] | Chr20:63935197 [GRCh38] Chr20:62566550 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3995A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000362685] | Chr20:63935563 [GRCh38] Chr20:62566916 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1433G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000277180] | Chr20:63933001 [GRCh38] Chr20:62564354 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*817C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000364462] | Chr20:63932385 [GRCh38] Chr20:62563738 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.-184_-179CTGCCG[5] | microsatellite | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000283351] | Chr20:63895169..63895174 [GRCh38] Chr20:62526522..62526527 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1106T>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000371743] | Chr20:63932674 [GRCh38] Chr20:62564027 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.*3670A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000397074] | Chr20:63935238 [GRCh38] Chr20:62566591 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4117C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000278391] | Chr20:63935685 [GRCh38] Chr20:62567038 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4129G>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000316977] | Chr20:63935697 [GRCh38] Chr20:62567050 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1604C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000319348] | Chr20:63933172 [GRCh38] Chr20:62564525 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000473881]|Seizures [RCV000718661]|not provided [RCV000726583]|not specified [RCV000277916] | Chr20:63928420 [GRCh38] Chr20:62559773 [GRCh37] Chr20:20q13.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_025219.3(DNAJC5):c.*4131C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000373885] | Chr20:63935699 [GRCh38] Chr20:62567052 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1630C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000373959] | Chr20:63933198 [GRCh38] Chr20:62564551 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3413A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000281977] | Chr20:63934981 [GRCh38] Chr20:62566334 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1648C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000320296] | Chr20:63933216 [GRCh38] Chr20:62564569 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg) | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000320350] | Chr20:63929326 [GRCh38] Chr20:62560679 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1220G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000283275] | Chr20:63932788 [GRCh38] Chr20:62564141 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2913G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000324654] | Chr20:63934481 [GRCh38] Chr20:62565834 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*4387C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000285316] | Chr20:63935955 [GRCh38] Chr20:62567308 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*750G>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000328642] | Chr20:63932318 [GRCh38] Chr20:62563671 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4007G>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000328859] | Chr20:63935575 [GRCh38] Chr20:62566928 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.*1820C>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000379614] | Chr20:63933388 [GRCh38] Chr20:62564741 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2191G>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000381617] | Chr20:63933759 [GRCh38] Chr20:62565112 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2725G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000353528] | Chr20:63934293 [GRCh38] Chr20:62565646 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*853C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000329678] | Chr20:63932421 [GRCh38] Chr20:62563774 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*4070C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000332327] | Chr20:63935638 [GRCh38] Chr20:62566991 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.*4385A>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000404381] | Chr20:63935953 [GRCh38] Chr20:62567306 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*895C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000388911] | Chr20:63932463 [GRCh38] Chr20:62563816 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4070C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000389099] | Chr20:63935638 [GRCh38] Chr20:62566991 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.339C>T (p.Cys113=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000542644]|not specified [RCV000322144] | Chr20:63930868 [GRCh38] Chr20:62562221 [GRCh37] Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_025219.3(DNAJC5):c.*2545C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000406202] | Chr20:63934113 [GRCh38] Chr20:62565466 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3269C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000335576] | Chr20:63934837 [GRCh38] Chr20:62566190 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3432G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000336919] | Chr20:63935000 [GRCh38] Chr20:62566353 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1182C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000337137] | Chr20:63932750 [GRCh38] Chr20:62564103 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*276C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000338485] | Chr20:63931844 [GRCh38] Chr20:62563197 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1557T>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000259357] | Chr20:63933125 [GRCh38] Chr20:62564478 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*909G>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000294892] | Chr20:63932477 [GRCh38] Chr20:62563830 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*4300C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000339194] | Chr20:63935868 [GRCh38] Chr20:62567221 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.2(DNAJC5):c.*4455C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000394588] | Chr20:63936023 [GRCh38] Chr20:62567376 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1364C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000394715] | Chr20:63932932 [GRCh38] Chr20:62564285 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1303C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000394429] | Chr20:63932871 [GRCh38] Chr20:62564224 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2711G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000396683] | Chr20:63934279 [GRCh38] Chr20:62565632 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3480G>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000397071] | Chr20:63935048 [GRCh38] Chr20:62566401 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*2878T>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000359613] | Chr20:63934446 [GRCh38] Chr20:62565799 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.438G>A (p.Thr146=) | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000385002] | Chr20:63930967 [GRCh38] Chr20:62562320 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*2723A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000298628] | Chr20:63934291 [GRCh38] Chr20:62565644 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*273C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000278712] | Chr20:63931841 [GRCh38] Chr20:62563194 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*2765_*2770del | deletion | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000263796] | Chr20:63934333..63934338 [GRCh38] Chr20:62565686..62565691 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2790C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000300201] | Chr20:63934358 [GRCh38] Chr20:62565711 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*2039C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000345732] | Chr20:63933607 [GRCh38] Chr20:62564960 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2218A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000346809] | Chr20:63933786 [GRCh38] Chr20:62565139 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1342G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000347754] | Chr20:63932910 [GRCh38] Chr20:62564263 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1079T>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000317161] | Chr20:63932647 [GRCh38] Chr20:62564000 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*727C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000363495] | Chr20:63932295 [GRCh38] Chr20:62563648 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*1643T>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000265117] | Chr20:63933211 [GRCh38] Chr20:62564564 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*2912C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000264941] | Chr20:63934480 [GRCh38] Chr20:62565833 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.*322G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000303681] | Chr20:63931890 [GRCh38] Chr20:62563243 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*727C>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000304148] | Chr20:63932295 [GRCh38] Chr20:62563648 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.-109A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000348548] | Chr20:63895226 [GRCh38] Chr20:62526579 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1183G>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000405373] | Chr20:63932751 [GRCh38] Chr20:62564104 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*3252G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000388822] | Chr20:63934820 [GRCh38] Chr20:62566173 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.*195G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000351175] | Chr20:63931763 [GRCh38] Chr20:62563116 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*2701C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000352876] | Chr20:63934269 [GRCh38] Chr20:62565622 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.*2993C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000268840] | Chr20:63934561 [GRCh38] Chr20:62565914 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 | copy number loss | not provided [RCV000488148] | Chr20:61337529..62904501 [GRCh37] Chr20:20q13.33 |
likely pathogenic |
| NM_025219.3(DNAJC5):c.-194C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000379997] | Chr20:63895141 [GRCh38] Chr20:62526494 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-160_-155dup | duplication | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000291694] | Chr20:63895175..63895180 [GRCh38] Chr20:62526528..62526533 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.504C>T (p.Asp168=) | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000331893]|Neuronal ceroid lipofuscinosis [RCV000632768] | Chr20:63931475 [GRCh38] Chr20:62562828 [GRCh37] Chr20:20q13.33 |
likely benign|uncertain significance |
| NM_025219.3(DNAJC5):c.*3116T>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000383243] | Chr20:63934684 [GRCh38] Chr20:62566037 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-185G>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000383671] | Chr20:63895150 [GRCh38] Chr20:62526503 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*3375C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000402625] | Chr20:63934943 [GRCh38] Chr20:62566296 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*3239C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000348243] | Chr20:63934807 [GRCh38] Chr20:62566160 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1391G>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000367114] | Chr20:63932959 [GRCh38] Chr20:62564312 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*4057C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000367188] | Chr20:63935625 [GRCh38] Chr20:62566978 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*80A>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000386302] | Chr20:63931648 [GRCh38] Chr20:62563001 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1895C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000285257] | Chr20:63933463 [GRCh38] Chr20:62564816 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*3870G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000307947] | Chr20:63935438 [GRCh38] Chr20:62566791 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*135C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000296741] | Chr20:63931703 [GRCh38] Chr20:62563056 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-33G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000354231] | Chr20:63895302 [GRCh38] Chr20:62526655 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*243G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000390559] | Chr20:63931811 [GRCh38] Chr20:62563164 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-186C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000340664] | Chr20:63895149 [GRCh38] Chr20:62526502 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-140_-138GCC[9] | microsatellite | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000312433] | Chr20:63895210..63895215 [GRCh38] Chr20:62526563..62526568 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.2(DNAJC5):c.*4454G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000342614] | Chr20:63936022 [GRCh38] Chr20:62567375 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*412C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000358442] | Chr20:63931980 [GRCh38] Chr20:62563333 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*686C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000395843] | Chr20:63932254 [GRCh38] Chr20:62563607 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*286G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000395846] | Chr20:63931854 [GRCh38] Chr20:62563207 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*1391G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000312507] | Chr20:63932959 [GRCh38] Chr20:62564312 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-140_-138GCC[8] | microsatellite | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000396702] | Chr20:63895213..63895215 [GRCh38] Chr20:62526566..62526568 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.-95G>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000396704] | Chr20:63895240 [GRCh38] Chr20:62526593 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*3502_*3505del | deletion | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000302031] | Chr20:63935070..63935073 [GRCh38] Chr20:62566423..62566426 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-89C>G | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000313503] | Chr20:63895246 [GRCh38] Chr20:62526599 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*3009G>A | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000328556] | Chr20:63934577 [GRCh38] Chr20:62565930 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-160G>C | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000344316] | Chr20:63895175 [GRCh38] Chr20:62526528 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.*2933C>T | single nucleotide variant | Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000379265] | Chr20:63934501 [GRCh38] Chr20:62565854 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-35_-32GCGG[5] | microsatellite | not specified [RCV000601142] | Chr20:63895312..63895315 [GRCh38] Chr20:62526665..62526668 [GRCh37] Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1 | copy number loss | See cases [RCV000446096] | Chr20:61827144..62907467 [GRCh37] Chr20:20q13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.*18G>A | single nucleotide variant | not specified [RCV000420723] | Chr20:63931586 [GRCh38] Chr20:62562939 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.237C>T (p.Tyr79=) | single nucleotide variant | not specified [RCV000434471] | Chr20:63929441 [GRCh38] Chr20:62560794 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.255C>T (p.Tyr85=) | single nucleotide variant | not specified [RCV000441545] | Chr20:63929459 [GRCh38] Chr20:62560812 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.321+14G>A | single nucleotide variant | not specified [RCV000417918] | Chr20:63929539 [GRCh38] Chr20:62560892 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.494-16T>C | single nucleotide variant | not specified [RCV000438723] | Chr20:63931449 [GRCh38] Chr20:62562802 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.-12+12G>T | single nucleotide variant | not specified [RCV000418553] | Chr20:63895335 [GRCh38] Chr20:62526688 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.494-18T>C | single nucleotide variant | not specified [RCV000418592] | Chr20:63931447 [GRCh38] Chr20:62562800 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.-45C>G | single nucleotide variant | not specified [RCV000424831] | Chr20:63895290 [GRCh38] Chr20:62526643 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.282C>T (p.Asn94=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000457811]|Seizures [RCV000720157]|not specified [RCV000435344] | Chr20:63929486 [GRCh38] Chr20:62560839 [GRCh37] Chr20:20q13.33 |
benign|likely benign |
| NM_025219.3(DNAJC5):c.*13C>G | single nucleotide variant | not specified [RCV000425335] | Chr20:63931581 [GRCh38] Chr20:62562934 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.322-5C>A | single nucleotide variant | not specified [RCV000419415] | Chr20:63930846 [GRCh38] Chr20:62562199 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.207C>T (p.Asp69=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000632763]|not specified [RCV000433052] | Chr20:63929411 [GRCh38] Chr20:62560764 [GRCh37] Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 | copy number gain | See cases [RCV000446009] | Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-12+20G>A | single nucleotide variant | not specified [RCV000422843] | Chr20:63895343 [GRCh38] Chr20:62526696 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.189G>A (p.Ala63=) | single nucleotide variant | not specified [RCV000423265] | Chr20:63929393 [GRCh38] Chr20:62560746 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.324C>G (p.Ala108=) | single nucleotide variant | not specified [RCV000440871] | Chr20:63930853 [GRCh38] Chr20:62562206 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.66G>A (p.Leu22=) | single nucleotide variant | not specified [RCV000437600] | Chr20:63928411 [GRCh38] Chr20:62559764 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.321+9G>A | single nucleotide variant | not specified [RCV000441222] | Chr20:63929534 [GRCh38] Chr20:62560887 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.321+8C>T | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000463826] | Chr20:63929533 [GRCh38] Chr20:62560886 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NC_000020.10:g.(?_62559688)_(62567384_?)dup | duplication | Neuronal ceroid lipofuscinosis [RCV000464327] | Chr20:63928335..63936031 [GRCh38] Chr20:62559688..62567384 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.-21_-14del | deletion | not specified [RCV000482386] | Chr20:63895314..63895321 [GRCh38] Chr20:62526667..62526674 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.-59_-52CGGAGCCG[3] | microsatellite | not specified [RCV000487294] | Chr20:63895284..63895291 [GRCh38] Chr20:62526637..62526644 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.561C>T (p.Asp187=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000456761]|Seizures [RCV000716584]|not provided [RCV000840140] | Chr20:63931532 [GRCh38] Chr20:62562885 [GRCh37] Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1 | copy number loss | See cases [RCV000510189] | Chr20:61884113..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.448G>A (p.Val150Met) | single nucleotide variant | not specified [RCV000499004] | Chr20:63930977 [GRCh38] Chr20:62562330 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.524C>T (p.Pro175Leu) | single nucleotide variant | not specified [RCV000498553] | Chr20:63931495 [GRCh38] Chr20:62562848 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.229G>T (p.Asp77Tyr) | single nucleotide variant | not specified [RCV000493589] | Chr20:63929433 [GRCh38] Chr20:62560786 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 | copy number gain | See cases [RCV000511980] | Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33 |
likely pathogenic |
| NM_025219.3(DNAJC5):c.509C>T (p.Pro170Leu) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000706226] | Chr20:63931480 [GRCh38] Chr20:62562833 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 | copy number gain | See cases [RCV000510832] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.322G>T (p.Ala108Ser) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000686157] | Chr20:63930851 [GRCh38] Chr20:62562204 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.242C>T (p.Ser81Leu) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000695841] | Chr20:63929446 [GRCh38] Chr20:62560799 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.351G>A (p.Thr117=) | single nucleotide variant | not specified [RCV000604156] | Chr20:63930880 [GRCh38] Chr20:62562233 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.525G>A (p.Pro175=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000531122] | Chr20:63931496 [GRCh38] Chr20:62562849 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.-11-9T>C | single nucleotide variant | not specified [RCV000599657] | Chr20:63928326 [GRCh38] Chr20:62559679 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.204G>A (p.Thr68=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000632699] | Chr20:63929408 [GRCh38] Chr20:62560761 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.322-5C>G | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000632769] | Chr20:63930846 [GRCh38] Chr20:62562199 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.87T>C (p.Asp29=) | single nucleotide variant | not specified [RCV000602120] | Chr20:63928432 [GRCh38] Chr20:62559785 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.450G>T (p.Val150=) | single nucleotide variant | not specified [RCV000610879] | Chr20:63930979 [GRCh38] Chr20:62562332 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.531C>T (p.Ser177=) | single nucleotide variant | not specified [RCV000613995] | Chr20:63931502 [GRCh38] Chr20:62562855 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.12G>A (p.Gln4=) | single nucleotide variant | not specified [RCV000607264] | Chr20:63928357 [GRCh38] Chr20:62559710 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.238G>A (p.Gly80Ser) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000632690] | Chr20:63929442 [GRCh38] Chr20:62560795 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.244C>T (p.Leu82=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000632737] | Chr20:63929448 [GRCh38] Chr20:62560801 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.327G>C (p.Leu109=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000632741] | Chr20:63930856 [GRCh38] Chr20:62562209 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.420G>A (p.Ala140=) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000632743] | Chr20:63930949 [GRCh38] Chr20:62562302 [GRCh37] Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) | copy number gain | See cases [RCV000512450] | Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
| NC_000020.10:g.(?_62559679)_(62562941_?)dup | duplication | Neuronal ceroid lipofuscinosis [RCV000708367] | Chr20:63928326..63931588 [GRCh38] Chr20:62559679..62562941 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.532G>A (p.Ala178Thr) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000706096] | Chr20:63931503 [GRCh38] Chr20:62562856 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.188C>T (p.Ala63Val) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000812273]|not provided [RCV000675869] | Chr20:63929392 [GRCh38] Chr20:62560745 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.493+22C>T | single nucleotide variant | not provided [RCV000675872] | Chr20:63931044 [GRCh38] Chr20:62562397 [GRCh37] Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1 | copy number loss | not provided [RCV000684123] | Chr20:62090403..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
| GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1 | copy number loss | not provided [RCV000684126] | Chr20:62002369..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.161C>T (p.Ala54Val) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000697142] | Chr20:63929365 [GRCh38] Chr20:62560718 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.513C>T (p.Ile171=) | single nucleotide variant | Seizures [RCV000718539] | Chr20:63931484 [GRCh38] Chr20:62562837 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.447C>T (p.Tyr149=) | single nucleotide variant | Seizures [RCV000720616] | Chr20:63930976 [GRCh38] Chr20:62562329 [GRCh37] Chr20:20q13.33 |
likely benign |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 | copy number gain | not provided [RCV000741059] | Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
| GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 | copy number gain | not provided [RCV000741328] | Chr20:60053234..62961294 [GRCh37] Chr20:20q13.33 |
pathogenic |
| GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 | copy number gain | not provided [RCV000741329] | Chr20:60063645..62961294 [GRCh37] Chr20:20q13.33 |
pathogenic |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 | copy number gain | not provided [RCV000741057] | Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
| GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 | copy number gain | not provided [RCV000741058] | Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
| NM_025219.3(DNAJC5):c.321+159A>G | single nucleotide variant | not provided [RCV000829514] | Chr20:63929684 [GRCh38] Chr20:62561037 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.108-266C>T | single nucleotide variant | not provided [RCV000828907] | Chr20:63929046 [GRCh38] Chr20:62560399 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000820105] | Chr20:63928359 [GRCh38] Chr20:62559712 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.321+73G>A | single nucleotide variant | not provided [RCV000829890] | Chr20:63929598 [GRCh38] Chr20:62560951 [GRCh37] Chr20:20q13.33 |
benign |
| NM_025219.3(DNAJC5):c.108-64C>T | single nucleotide variant | not provided [RCV000833794] | Chr20:63929248 [GRCh38] Chr20:62560601 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr) | single nucleotide variant | Neuronal ceroid lipofuscinosis [RCV000815673] | Chr20:63928421 [GRCh38] Chr20:62559774 [GRCh37] Chr20:20q13.33 |
uncertain significance |
| NM_025219.3(DNAJC5):c.107+159G>A | single nucleotide variant | not provided [RCV000838940] | Chr20:63928611 [GRCh38] Chr20:62559964 [GRCh37] Chr20:20q13.33 |
benign |
| NC_000020.11:g.63931044C>T | single nucleotide variant | not provided [RCV000830048] | Chr20:62562397 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.322-35G>A | single nucleotide variant | not provided [RCV000830055] | Chr20:63930816 [GRCh38] Chr20:62562169 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.107+115G>A | single nucleotide variant | not provided [RCV000834506] | Chr20:63928567 [GRCh38] Chr20:62559920 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.108-61G>A | single nucleotide variant | not provided [RCV000834507] | Chr20:63929251 [GRCh38] Chr20:62560604 [GRCh37] Chr20:20q13.33 |
likely benign |
| NM_025219.3(DNAJC5):c.370_399dup (p.Cys124_Cys133dup) | duplication | Ceroid lipofuscinosis neuronal 4B autosomal dominant [RCV000850191] | Chr20:63930887..63930888 [GRCh38] Chr20:62562240..62562241 [GRCh37] Chr20:20q13.33 |
pathogenic |
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:16235 | AgrOrtholog |
| COSMIC | DNAJC5 | COSMIC |
| Ensembl Genes | ENSG00000101152 | ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000354111 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000434744 | UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000360864 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000470551 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 1.10.287.110 | UniProtKB/Swiss-Prot |
| GTEx | ENSG00000101152 | GTEx |
| HGNC ID | HGNC:16235 | ENTREZGENE |
| Human Proteome Map | DNAJC5 | Human Proteome Map |
| InterPro | DnaJ_domain | UniProtKB/Swiss-Prot |
| DnaJ_domain_CS | UniProtKB/Swiss-Prot | |
| J_dom_sf | UniProtKB/Swiss-Prot | |
| KEGG Report | hsa:80331 | UniProtKB/Swiss-Prot |
| NCBI Gene | 80331 | ENTREZGENE |
| OMIM | 162350 | OMIM |
| 611203 | OMIM | |
| Pfam | DnaJ | UniProtKB/Swiss-Prot |
| PharmGKB | PA27422 | PharmGKB |
| PRINTS | JDOMAIN | UniProtKB/Swiss-Prot |
| PROSITE | DNAJ_1 | UniProtKB/Swiss-Prot |
| DNAJ_2 | UniProtKB/Swiss-Prot | |
| SMART | DnaJ | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | SSF46565 | UniProtKB/Swiss-Prot |
| UniGene | Hs.164419 | ENTREZGENE |
| UniProt | DNJC5_HUMAN | UniProtKB/Swiss-Prot |
| Q6AHX3 | ENTREZGENE, UniProtKB/TrEMBL | |
| Q9H3Z4 | ENTREZGENE | |
| UniProt Secondary | A8K0M0 | UniProtKB/Swiss-Prot |
| B3KY68 | UniProtKB/Swiss-Prot | |
| E1P5G8 | UniProtKB/Swiss-Prot | |
| Q9H3Z5 | UniProtKB/Swiss-Prot | |
| Q9H7H2 | UniProtKB/Swiss-Prot |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-04-01 | DNAJC5 | DnaJ heat shock protein family (Hsp40) member C5 | CLN4 | ceroid-lipofuscinosis, neuronal 4 (Kufs disease) | Data Merged | 737654 | PROVISIONAL |
| 2015-11-24 | DNAJC5 | DnaJ heat shock protein family (Hsp40) member C5 | DnaJ (Hsp40) homolog, subfamily C, member 5 | Symbol and/or name change | 5135510 | APPROVED |
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| More on DNAJC5 | |
|
Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
| CRRD Object Information | |
| CRRD ID: | 1344057 |
| Created: | 2005-03-08 |
| Species: | Homo sapiens |
| Last Modified: | 2019-11-26 |
| Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.
