ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit) - Rat Genome Database

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Gene: ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit) Homo sapiens
Analyze
Symbol: ERCC8
Name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
RGD ID: 1601889
HGNC Page HGNC:3439
Description: Enables ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including DNA repair; protein ubiquitination; and regulation of DNA repair. Acts upstream of or within transcription-coupled nucleotide-excision repair. Located in nuclear matrix. Part of Cul4A-RING E3 ubiquitin ligase complex and nucleotide-excision repair complex. Is active in nucleus and site of DNA damage. Implicated in Cockayne syndrome; Cockayne syndrome A; and UV-sensitive syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CKN1; cockayne syndrome WD repeat protein CSA; Cockayne syndrome WD-repeat protein CSA; CSA; DNA excision repair protein ERCC-8; excision repair cross-complementation group 8; excision repair cross-complementing rodent repair deficiency complementation group 8; excision repair cross-complementing rodent repair deficiency, complementation group 8; UVSS2
RGD Orthologs
Mouse
Rat
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
GRCh38560,866,454 - 60,945,070 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl560,866,454 - 60,945,073 (-)Ensemblhg38GRCh38
GRCh37560,162,281 - 60,240,897 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36560,205,415 - 60,276,648 (-)NCBIBuild 36Build 36hg18NCBI36
Celera557,110,728 - 57,181,969 (-)NCBICelera
Cytogenetic Map5q12.1NCBI
HuRef557,127,788 - 57,199,016 (-)NCBIHuRef
CHM1_1560,169,330 - 60,240,587 (-)NCBICHM1_1
T2T-CHM13v2.0561,682,823 - 61,761,461 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal auditory evoked potentials  (IAGP)
Abnormal circulating porphyrin concentration  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal myelination  (IAGP)
Abnormal peripheral myelination  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of peripheral nerve conduction  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of temperature regulation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Absent brainstem auditory responses  (IAGP)
Adult onset sensorineural hearing impairment  (IAGP)
Anemia  (IAGP)
Anhidrosis  (IAGP)
Anodontia  (IAGP)
Anophthalmia  (IAGP)
Aortic root aneurysm  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Astrocytosis  (IAGP)
Ataxia  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Basal ganglia calcification  (IAGP)
Brain atrophy  (IAGP)
Cardiomyopathy  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar dentate nucleus calcification  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral white matter atrophy  (IAGP)
Cognitive impairment  (IAGP)
Conductive hearing impairment  (IAGP)
Conjunctivitis  (IAGP)
Corneal ulceration  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Decreased lacrimation  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Dental malocclusion  (IAGP)
Developmental cataract  (IAGP)
Diarrhea  (IAGP)
Dry hair  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Enamel hypoplasia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal onset  (IAGP)
Flexion contracture  (IAGP)
Foot joint contracture  (IAGP)
Freckling  (IAGP)
Functional motor deficit  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hip contracture  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypermelanotic macule  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypoplasia of teeth  (IAGP)
Hypoplasia of the primary teeth  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic pelvis  (IAGP)
Hypotonia  (IAGP)
Increased blood pressure  (IAGP)
Increased blood urea nitrogen  (IAGP)
Increased cellular sensitivity to UV light  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intention tremor  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular menstruation  (IAGP)
Ivory epiphyses of the phalanges of the hand  (IAGP)
Joint contracture  (IAGP)
Keratoconjunctivitis sicca  (IAGP)
Kyphosis  (IAGP)
Lentiglobus  (IAGP)
Limb hypertonia  (IAGP)
Limitation of joint mobility  (IAGP)
Long face  (IAGP)
Loss of facial adipose tissue  (IAGP)
Lower limb spasticity  (IAGP)
Macrotia  (IAGP)
Male hypogonadism  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Mild postnatal growth retardation  (IAGP)
Muscle weakness  (IAGP)
Narrow nose  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Normal pressure hydrocephalus  (IAGP)
Nystagmus  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Patchy demyelination of subcortical white matter  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral dysmyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Persistent left superior vena cava  (IAGP)
Photophobia  (IAGP)
Pigmentary retinopathy  (IAGP)
Polyneuropathy  (IAGP)
Postnatal growth retardation  (IAGP)
Postural instability  (IAGP)
Premature coronary artery atherosclerosis  (IAGP)
Premature graying of hair  (IAGP)
Prematurely aged appearance  (IAGP)
Progeroid facial appearance  (IAGP)
Progressive microcephaly  (IAGP)
Progressive neurologic deterioration  (IAGP)
Prominent nose  (IAGP)
Proteinuria  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Retinal atrophy  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Scarring  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe postnatal growth retardation  (IAGP)
Severe short stature  (IAGP)
Short chin  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep abnormality  (IAGP)
Slender nose  (IAGP)
Sparse hair  (IAGP)
Splenomegaly  (IAGP)
Square pelvis bone  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Subcortical white matter calcifications  (IAGP)
Subdural hemorrhage  (IAGP)
Thickened calvaria  (IAGP)
Thymic hormone decreased  (IAGP)
Tremor  (IAGP)
Unilateral renal agenesis  (IAGP)
Unsteady gait  (IAGP)
Urinary retention  (IAGP)
Uveitis  (IAGP)
Vascular calcification  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Widely spaced primary teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Cockayne syndrome type A: novel mutations in eight typical patients. Bertola DR, etal., J Hum Genet. 2006;51(8):701-5. Epub 2006 Jul 25.
2. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Fousteri M and Mullenders LH, Cell Res. 2008 Jan;18(1):73-84. doi: 10.1038/cr.2008.6.
3. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Gorgels TG, etal., Mol Cell Biol. 2007 Feb;27(4):1433-41. Epub 2006 Dec 4.
4. Nucleotide excision repair: new tricks with old bricks. Kamileri I, etal., Trends Genet. 2012 Nov;28(11):566-73. doi: 10.1016/j.tig.2012.06.004. Epub 2012 Jul 22.
5. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. Khayat M, etal., Am J Med Genet A. 2010 Dec;152A(12):3091-4. doi: 10.1002/ajmg.a.33746.
6. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Laugel V, etal., Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.
7. Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. Nagtegaal AP, etal., J Neurosci. 2015 Mar 11;35(10):4280-6. doi: 10.1523/JNEUROSCI.5063-14.2015.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7664335   PMID:8596535   PMID:8876179   PMID:8999876   PMID:9250659   PMID:10944529   PMID:11313499   PMID:11782547   PMID:12477932   PMID:12549820   PMID:12732143   PMID:14661080  
PMID:14702039   PMID:15489334   PMID:15744458   PMID:16169070   PMID:16246722   PMID:16344560   PMID:16751180   PMID:16949367   PMID:17242193   PMID:17297471   PMID:17392787   PMID:17996703  
PMID:18270339   PMID:18708399   PMID:19237606   PMID:19295130   PMID:19615732   PMID:20100872   PMID:20301516   PMID:20360068   PMID:20496165   PMID:20522537   PMID:20541997   PMID:20575039  
PMID:21145461   PMID:21550341   PMID:21873635   PMID:21900206   PMID:22032989   PMID:22232169   PMID:22466612   PMID:22902626   PMID:23562423   PMID:23562424   PMID:23571135   PMID:23583689  
PMID:24781187   PMID:26130415   PMID:26496610   PMID:26616585   PMID:26620705   PMID:26687479   PMID:26826127   PMID:26871637   PMID:27791127   PMID:28302478   PMID:28333167   PMID:28416769  
PMID:28514442   PMID:28562347   PMID:28581483   PMID:29057985   PMID:29117863   PMID:29225035   PMID:29262528   PMID:29323787   PMID:29422660   PMID:29531219   PMID:29545921   PMID:29572252  
PMID:30009828   PMID:30039856   PMID:30182135   PMID:30200888   PMID:30249552   PMID:30871974   PMID:31546172   PMID:31722399   PMID:31970402   PMID:31973889   PMID:32048102   PMID:32142649  
PMID:32160415   PMID:32355176   PMID:32814053   PMID:33166073   PMID:33277540   PMID:33904453   PMID:33961781   PMID:34108663   PMID:34203326   PMID:34461059   PMID:34526721   PMID:34581821  
PMID:35271311   PMID:36231052   PMID:36454558   PMID:36688959   PMID:37689310   PMID:38237647   PMID:38316879   PMID:38411728   PMID:38600235   PMID:38600236   PMID:39209536  


Genomics

Comparative Map Data
ERCC8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38560,866,454 - 60,945,070 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl560,866,454 - 60,945,073 (-)Ensemblhg38GRCh38
GRCh37560,162,281 - 60,240,897 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36560,205,415 - 60,276,648 (-)NCBIBuild 36Build 36hg18NCBI36
Celera557,110,728 - 57,181,969 (-)NCBICelera
Cytogenetic Map5q12.1NCBI
HuRef557,127,788 - 57,199,016 (-)NCBIHuRef
CHM1_1560,169,330 - 60,240,587 (-)NCBICHM1_1
T2T-CHM13v2.0561,682,823 - 61,761,461 (-)NCBIT2T-CHM13v2.0
Ercc8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913108,295,246 - 108,337,738 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13108,295,265 - 108,331,898 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm3813108,158,711 - 108,201,204 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13108,158,731 - 108,195,364 (+)Ensemblmm10GRCm38
MGSCv3713108,948,932 - 108,985,175 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv3613109,279,483 - 109,315,258 (+)NCBIMGSCv36mm8
Celera13112,496,203 - 112,532,195 (+)NCBICelera
Cytogenetic Map13D2.1NCBI
cM Map1359.69NCBI
Ercc8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8241,380,901 - 41,418,294 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl241,380,901 - 41,418,294 (+)EnsemblGRCr8
mRatBN7.2239,647,393 - 39,686,229 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl239,647,452 - 39,684,859 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx246,752,569 - 46,789,810 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0244,811,247 - 44,848,491 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0239,661,198 - 39,698,289 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0239,434,617 - 39,473,392 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl239,434,634 - 39,472,017 (+)Ensemblrn6Rnor6.0
Rnor_5.0258,518,950 - 58,557,726 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4239,382,976 - 39,420,764 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera235,489,177 - 35,526,315 (+)NCBICelera
RGSC_v3.1239,303,350 - 39,340,773 (+)NCBI
Cytogenetic Map2q14NCBI
ERCC8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2452,964,264 - 53,035,919 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1551,117,908 - 51,195,762 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0553,053,712 - 53,131,563 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1554,693,987 - 54,765,496 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl554,693,987 - 54,765,496 (+)EnsemblpanPan2panpan1.1
ERCC8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1247,502,777 - 47,559,012 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl247,503,762 - 47,558,889 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha244,578,590 - 44,634,857 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0247,979,925 - 48,036,204 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl247,978,983 - 48,036,070 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1245,050,076 - 45,106,344 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0245,836,609 - 45,892,876 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0246,688,601 - 46,744,871 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Ercc8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213198,623,580 - 198,673,180 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364807,560,023 - 7,609,648 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364807,560,055 - 7,609,650 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERCC8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1639,701,702 - 39,770,315 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11639,704,602 - 39,770,330 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21642,614,301 - 42,680,374 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERCC8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1457,048,262 - 57,128,338 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl457,045,018 - 57,128,307 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_0236660495,536,897 - 5,617,597 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ercc8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248159,054,651 - 9,134,286 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248159,054,576 - 9,135,136 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in ERCC8
535 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000082.3:c.844_1122del deletion Cockayne syndrome type 1 [RCV000001784] Chr5:5q12 pathogenic
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) single nucleotide variant Cockayne syndrome type 1 [RCV000373734]|UV-sensitive syndrome 2 [RCV001657939]|not provided [RCV001521223]|not specified [RCV000170396] Chr5:60904838 [GRCh38]
Chr5:60200665 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) single nucleotide variant Cockayne syndrome type 1 [RCV000377340]|not provided [RCV001516013]|not specified [RCV000170395] Chr5:60918301 [GRCh38]
Chr5:60214128 [GRCh37]
Chr5:5q12.1		 benign|uncertain significance
NM_000082.4(ERCC8):c.580T>C (p.Trp194Arg) single nucleotide variant not provided [RCV000522087] Chr5:60902479 [GRCh38]
Chr5:60198306 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.1083G>T (p.Trp361Cys) single nucleotide variant UV-sensitive syndrome 2 [RCV000024268]|not provided [RCV000059645] Chr5:60887479 [GRCh38]
Chr5:60183306 [GRCh37]
Chr5:5q12.1		 pathogenic|not provided
NM_000082.4(ERCC8):c.966C>A (p.Tyr322Ter) single nucleotide variant Cockayne syndrome [RCV003330380]|Cockayne syndrome type 1 [RCV000001785]|not provided [RCV001388976] Chr5:60890964 [GRCh38]
Chr5:60186791 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter) single nucleotide variant Cockayne syndrome [RCV001280547]|Cockayne syndrome type 1 [RCV000001786]|Cockayne syndrome type 1 [RCV002490294]|not provided [RCV001064361] Chr5:60944972 [GRCh38]
Chr5:60240799 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.479C>T (p.Ala160Val) single nucleotide variant Cockayne syndrome [RCV005406718]|Cockayne syndrome type 1 [RCV000001787]|not provided [RCV000059647] Chr5:60904794 [GRCh38]
Chr5:60200621 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000082.4(ERCC8):c.613G>C (p.Ala205Pro) single nucleotide variant Cockayne syndrome type 1 [RCV000001788]|Cockayne syndrome type 1 [RCV005031380]|not provided [RCV000059650] Chr5:60902446 [GRCh38]
Chr5:60198273 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1		 pathogenic
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 1A [RCV004542735]|Cockayne syndrome [RCV004525867]|Cockayne syndrome type 1 [RCV000664947]|Cockayne syndrome type 1 [RCV005031550]|not provided [RCV000059646] Chr5:60904795 [GRCh38]
Chr5:60200622 [GRCh37]
Chr5:5q12.1		 likely pathogenic|uncertain significance|not provided
NM_000082.4(ERCC8):c.582G>C (p.Trp194Cys) single nucleotide variant not provided [RCV000059648] Chr5:60902477 [GRCh38]
Chr5:60198304 [GRCh37]
Chr5:5q12.1		 not provided
NM_000082.4(ERCC8):c.605T>C (p.Leu202Ser) single nucleotide variant not provided [RCV000059649] Chr5:60902454 [GRCh38]
Chr5:60198281 [GRCh37]
Chr5:5q12.1		 not provided
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly) single nucleotide variant Cockayne syndrome type 1 [RCV005042185]|Inborn genetic diseases [RCV001266293]|not provided [RCV000059651] Chr5:60898322 [GRCh38]
Chr5:60194149 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic|not provided
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) single nucleotide variant Cockayne syndrome type 1 [RCV000367047]|not provided [RCV000871309]|not specified [RCV000173979] Chr5:60887482 [GRCh38]
Chr5:60183309 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_000082.4(ERCC8):c.141del (p.Asn47fs) deletion Cockayne syndrome type 1 [RCV000170394] Chr5:60928896 [GRCh38]
Chr5:60224723 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1016G>A (p.Cys339Tyr) single nucleotide variant not provided [RCV000171383] Chr5:60890914 [GRCh38]
Chr5:60186741 [GRCh37]
Chr5:5q12.1		 likely pathogenic
GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1 copy number loss See cases [RCV000133749] Chr5:60499077..63927783 [GRCh38]
Chr5:59794904..63223610 [GRCh37]
Chr5:59830661..63259366 [NCBI36]
Chr5:5q12.1-12.3		 pathogenic
GRCh38/hg38 5q12.1(chr5:60609368-60885007)x1 copy number loss See cases [RCV000134161] Chr5:60609368..60885007 [GRCh38]
Chr5:59905195..60180834 [GRCh37]
Chr5:59940952..60216591 [NCBI36]
Chr5:5q12.1		 uncertain significance
GRCh38/hg38 5q11.2-12.1(chr5:56947850-61725401)x3 copy number gain See cases [RCV000134066] Chr5:56947850..61725401 [GRCh38]
Chr5:56243677..61021228 [GRCh37]
Chr5:56279434..61056985 [NCBI36]
Chr5:5q11.2-12.1		 pathogenic
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5q12.1(chr5:60884948-61132933)x0 copy number loss See cases [RCV000137880] Chr5:60884948..61132933 [GRCh38]
Chr5:60180775..60428760 [GRCh37]
Chr5:60216532..60464517 [NCBI36]
Chr5:5q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
NM_000082.4(ERCC8):c.127G>A (p.Gly43Ser) single nucleotide variant not provided [RCV000175519] Chr5:60928910 [GRCh38]
Chr5:60224737 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) single nucleotide variant Cockayne syndrome type 1 [RCV000332330]|ERCC8-related disorder [RCV003917681]|Hereditary breast ovarian cancer syndrome [RCV001374546]|not provided [RCV000584926]|not specified [RCV000180462] Chr5:60898280 [GRCh38]
Chr5:60194107 [GRCh37]
Chr5:5q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000005.9:g.60164820_60244992del deletion Cockayne syndrome type 1 [RCV000754839] Chr5:60164820..60244992 [GRCh37]
Chr5:5q12.1		 pathogenic
GRCh37/hg19 5q12.1(chr5:60240797-61658323)x3 copy number gain Breast ductal adenocarcinoma [RCV000207098] Chr5:60240797..61658323 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1125del (p.Thr376fs) deletion Cockayne syndrome type 1 [RCV000669551] Chr5:60874681 [GRCh38]
Chr5:60170508 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1129A>G (p.Thr377Ala) single nucleotide variant not specified [RCV000238658] Chr5:60874677 [GRCh38]
Chr5:60170504 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.276-2A>G single nucleotide variant Cockayne syndrome type 1 [RCV000669777]|not provided [RCV001868235] Chr5:60918390 [GRCh38]
Chr5:60214217 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.*725T>G single nucleotide variant Cockayne syndrome type 1 [RCV000281997] Chr5:60873890 [GRCh38]
Chr5:60169717 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1070A>G (p.Asn357Ser) single nucleotide variant Cockayne syndrome type 1 [RCV000274841]|Inborn genetic diseases [RCV004619275]|not provided [RCV002523529] Chr5:60887492 [GRCh38]
Chr5:60183319 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.77+16C>T single nucleotide variant not provided [RCV001520822]|not specified [RCV000244935] Chr5:60944916 [GRCh38]
Chr5:60240743 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.482-17C>T single nucleotide variant not provided [RCV002057296]|not specified [RCV000253138] Chr5:60903733 [GRCh38]
Chr5:60199560 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_000082.4(ERCC8):c.173+9A>G single nucleotide variant Cockayne syndrome type 1 [RCV000344512]|not provided [RCV000913473] Chr5:60928855 [GRCh38]
Chr5:60224682 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.*519C>A single nucleotide variant Cockayne syndrome type 1 [RCV000396154]|not provided [RCV004717557] Chr5:60874096 [GRCh38]
Chr5:60169923 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_000082.4(ERCC8):c.*36C>T single nucleotide variant Cockayne syndrome type 1 [RCV000400751]|not provided [RCV001692019] Chr5:60874579 [GRCh38]
Chr5:60170406 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_000082.4(ERCC8):c.409G>A (p.Val137Ile) single nucleotide variant Cockayne syndrome type 1 [RCV000320504]|not provided [RCV002520378] Chr5:60904864 [GRCh38]
Chr5:60200691 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) single nucleotide variant Cockayne syndrome type 1 [RCV000290754]|not provided [RCV000728851] Chr5:60944943 [GRCh38]
Chr5:60240770 [GRCh37]
Chr5:5q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000082.4(ERCC8):c.*439G>T single nucleotide variant Cockayne syndrome type 1 [RCV000341857]|not provided [RCV004716390] Chr5:60874176 [GRCh38]
Chr5:60170003 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.*237T>C single nucleotide variant Cockayne syndrome type 1 [RCV000306810]|not provided [RCV001563031] Chr5:60874378 [GRCh38]
Chr5:60170205 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_000082.4(ERCC8):c.*105T>C single nucleotide variant Cockayne syndrome type 1 [RCV000363687]|not provided [RCV001613172] Chr5:60874510 [GRCh38]
Chr5:60170337 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.551-10G>T single nucleotide variant Cockayne syndrome type 1 [RCV000259268]|not provided [RCV001452977] Chr5:60902518 [GRCh38]
Chr5:60198345 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu) single nucleotide variant Cockayne syndrome type 1 [RCV000310103]|Cockayne syndrome type 1 [RCV005398481]|not provided [RCV000951221] Chr5:60887457 [GRCh38]
Chr5:60183284 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.-23T>G single nucleotide variant Cockayne syndrome [RCV000348090]|Cockayne syndrome type 1 [RCV001157840]|not provided [RCV001560616] Chr5:60945031 [GRCh38]
Chr5:60240858 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_000082.4(ERCC8):c.472T>C (p.Leu158=) single nucleotide variant Cockayne syndrome type 1 [RCV000316833]|not provided [RCV000946093] Chr5:60904801 [GRCh38]
Chr5:60200628 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.-25G>C single nucleotide variant Cockayne syndrome type 1 [RCV000394408] Chr5:60945033 [GRCh38]
Chr5:60240860 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.149A>G (p.Asp50Gly) single nucleotide variant Cockayne syndrome type 1 [RCV000394430]|not provided [RCV000967836] Chr5:60928888 [GRCh38]
Chr5:60224715 [GRCh37]
Chr5:5q12.1		 benign|uncertain significance
NM_000082.4(ERCC8):c.430G>A (p.Val144Ile) single nucleotide variant Cockayne syndrome type 1 [RCV000281791]|not provided [RCV002523530] Chr5:60904843 [GRCh38]
Chr5:60200670 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.510T>C (p.Leu170=) single nucleotide variant not provided [RCV000316993] Chr5:60903688 [GRCh38]
Chr5:60199515 [GRCh37]
Chr5:5q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000082.4(ERCC8):c.42C>T (p.Asp14=) single nucleotide variant not provided [RCV000316217] Chr5:60944967 [GRCh38]
Chr5:60240794 [GRCh37]
Chr5:5q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000082.4(ERCC8):c.-3G>A single nucleotide variant ERCC8-related disorder [RCV003897637]|not provided [RCV000317873] Chr5:60945011 [GRCh38]
Chr5:60240838 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.250T>C (p.Cys84Arg) single nucleotide variant Cockayne syndrome type 1 [RCV001157839]|Inborn genetic diseases [RCV002521989]|not provided [RCV000322191] Chr5:60922079 [GRCh38]
Chr5:60217906 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.152T>C (p.Ile51Thr) single nucleotide variant Inborn genetic diseases [RCV002518898]|not provided [RCV000359467] Chr5:60928885 [GRCh38]
Chr5:60224712 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.202A>T (p.Ile68Phe) single nucleotide variant Cockayne syndrome type 1 [RCV001271099] Chr5:60922127 [GRCh38]
Chr5:60217954 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.299dup (p.Tyr100Ter) duplication not provided [RCV000595002] Chr5:60918364..60918365 [GRCh38]
Chr5:60214191..60214192 [GRCh37]
Chr5:5q12.1		 pathogenic
GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1 copy number loss See cases [RCV002285073] Chr5:59783655..63257950 [GRCh37]
Chr5:5q12.1-12.3		 pathogenic
NM_000082.4(ERCC8):c.*462T>A single nucleotide variant Cockayne syndrome type 1 [RCV000284546] Chr5:60874153 [GRCh38]
Chr5:60169980 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.311C>G (p.Thr104Ser) single nucleotide variant Cockayne syndrome type 1 [RCV000285326] Chr5:60918353 [GRCh38]
Chr5:60214180 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*724C>G single nucleotide variant Cockayne syndrome type 1 [RCV000337071] Chr5:60873891 [GRCh38]
Chr5:60169718 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.812T>C (p.Leu271Pro) single nucleotide variant Cockayne syndrome type 1 [RCV000370384] Chr5:60898307 [GRCh38]
Chr5:60194134 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_174889.4(NDUFAF2):c.-91C>T single nucleotide variant Cockayne syndrome [RCV000373301]|Leigh syndrome [RCV000355199]|Mitochondrial complex I deficiency [RCV000262719]|not provided [RCV001653699] Chr5:60945165 [GRCh38]
Chr5:60240992 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_000082.4(ERCC8):c.*763A>C single nucleotide variant Cockayne syndrome type 1 [RCV000371814] Chr5:60873852 [GRCh38]
Chr5:60169679 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.10:g.60945141G>C single nucleotide variant Cockayne syndrome [RCV000282407]|not provided [RCV001551874] Chr5:60945141 [GRCh38]
Chr5:60240968 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.*373_*375dup duplication Cockayne syndrome [RCV000396150] Chr5:60874239..60874240 [GRCh38]
Chr5:60170066..60170067 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) single nucleotide variant Cockayne syndrome [RCV000278856]|Leigh syndrome [RCV000348449]|Mitochondrial complex 1 deficiency, nuclear type 10 [RCV001778734]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000290995]|not provided [RCV000676954]|not specified [RCV000117705] Chr5:60945315 [GRCh38]
Chr5:60241142 [GRCh37]
Chr5:5q12.1		 benign|likely benign
NM_174889.4(NDUFAF2):c.-97A>G single nucleotide variant Cockayne syndrome [RCV000337453]|Leigh syndrome [RCV000297972]|Mitochondrial complex I deficiency [RCV000401969]|not provided [RCV000830751] Chr5:60945159 [GRCh38]
Chr5:60240986 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.872G>A (p.Ser291Asn) single nucleotide variant Cockayne syndrome type 1 [RCV001152257]|Inborn genetic diseases [RCV002557285] Chr5:60891058 [GRCh38]
Chr5:60186885 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.637T>C (p.Leu213=) single nucleotide variant not provided [RCV000591485] Chr5:60899708 [GRCh38]
Chr5:60195535 [GRCh37]
Chr5:5q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000082.4(ERCC8):c.300C>G (p.Tyr100Ter) single nucleotide variant Cockayne syndrome [RCV002509376]|Cockayne syndrome type 1 [RCV000412151]|Cockayne syndrome type 1 [RCV002502427]|not provided [RCV000726626] Chr5:60918364 [GRCh38]
Chr5:60214191 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000082.4(ERCC8):c.78-2A>T single nucleotide variant Cockayne syndrome type 1 [RCV000758079] Chr5:60928961 [GRCh38]
Chr5:60224788 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.175A>T (p.Met59Leu) single nucleotide variant not provided [RCV000731563]|not specified [RCV003489847] Chr5:60922154 [GRCh38]
Chr5:60217981 [GRCh37]
Chr5:5q12.1		 pathogenic|uncertain significance
NM_000082.4(ERCC8):c.317_320dup (p.Trp107Ter) duplication Cockayne syndrome type 1 [RCV000790399]|not provided [RCV001385942] Chr5:60918343..60918344 [GRCh38]
Chr5:60214170..60214171 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.1017C>A (p.Cys339Ter) single nucleotide variant not provided [RCV000731911] Chr5:60890913 [GRCh38]
Chr5:60186740 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.761C>A (p.Thr254Lys) single nucleotide variant not provided [RCV000729365] Chr5:60898358 [GRCh38]
Chr5:60194185 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.173+1119G>C single nucleotide variant Cockayne syndrome type 1 [RCV000449643]|not provided [RCV001861650] Chr5:60927745 [GRCh38]
Chr5:60223572 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000082.4(ERCC8):c.400-1G>A single nucleotide variant not provided [RCV000424558] Chr5:60904874 [GRCh38]
Chr5:60200701 [GRCh37]
Chr5:5q12.1		 likely pathogenic
GRCh37/hg19 5q12.1(chr5:59929560-61133024)x1 copy number loss See cases [RCV000448828] Chr5:59929560..61133024 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.647_651dup (p.Arg218Ter) duplication Cockayne syndrome type 1 [RCV000667949]|not provided [RCV000480542] Chr5:60899693..60899694 [GRCh38]
Chr5:60195520..60195521 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.295_297delinsTG (p.Arg99fs) indel Cockayne syndrome type 1 [RCV000984170]|not provided [RCV000493563] Chr5:60918367..60918369 [GRCh38]
Chr5:60214194..60214196 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q12.1-12.3(chr5:59753805-63274635)x1 copy number loss See cases [RCV000511984] Chr5:59753805..63274635 [GRCh37]
Chr5:5q12.1-12.3		 uncertain significance
NM_000082.4(ERCC8):c.173+1158A>G single nucleotide variant Cockayne syndrome type 1 [RCV000494733] Chr5:60927706 [GRCh38]
Chr5:60223533 [GRCh37]
Chr5:5q12.1		 likely pathogenic|benign
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4 copy number gain See cases [RCV000510792] Chr5:58966132..68847066 [GRCh37]
Chr5:5q12.1-13.2		 likely pathogenic
NM_000082.4(ERCC8):c.1057A>G (p.Ser353Gly) single nucleotide variant Inborn genetic diseases [RCV003260666] Chr5:60887505 [GRCh38]
Chr5:60183332 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.688A>G (p.Asn230Asp) single nucleotide variant Inborn genetic diseases [RCV003261062] Chr5:60899657 [GRCh38]
Chr5:60195484 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.600T>A (p.Tyr200Ter) single nucleotide variant not provided [RCV000585203] Chr5:60902459 [GRCh38]
Chr5:60198286 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.1006del (p.Thr336fs) deletion Cockayne syndrome type 1 [RCV000673034] Chr5:60890924 [GRCh38]
Chr5:60186751 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1186_*1del (p.Gly396fs) deletion Cockayne syndrome type 1 [RCV000673244] Chr5:60874614..60874620 [GRCh38]
Chr5:60170441..60170447 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1095dup (p.Tyr366fs) duplication Cockayne syndrome type 1 [RCV000664618] Chr5:60887466..60887467 [GRCh38]
Chr5:60183293..60183294 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.562_564del (p.Glu188del) deletion Cockayne syndrome type 1 [RCV000672650]|not provided [RCV002532132] Chr5:60902495..60902497 [GRCh38]
Chr5:60198322..60198324 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1012G>A (p.Asp338Asn) single nucleotide variant Cockayne syndrome type 1 [RCV000764612]|Cockayne syndrome type 1 [RCV001152254]|not provided [RCV000658089] Chr5:60890918 [GRCh38]
Chr5:60186745 [GRCh37]
Chr5:5q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000082.4(ERCC8):c.173+1G>A single nucleotide variant Cockayne syndrome type 1 [RCV000670075]|not provided [RCV001376989] Chr5:60928863 [GRCh38]
Chr5:60224690 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.679del (p.Asp227fs) deletion Cockayne syndrome type 1 [RCV000670140]|not provided [RCV002532095] Chr5:60899666 [GRCh38]
Chr5:60195493 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.1137del (p.Gln380fs) deletion Cockayne syndrome type 1 [RCV000671714] Chr5:60874669 [GRCh38]
Chr5:60170496 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_174889.5(NDUFAF2):c.114C>G (p.Tyr38Ter) single nucleotide variant Cockayne syndrome type 1 [RCV000674200]|Mitochondrial complex 1 deficiency, nuclear type 10 [RCV000590864]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001335554]|NDUFAF2-related disorder [RCV004735557]|not provided [RCV000485122]|not specified [RCV000780529] Chr5:60945369 [GRCh38]
Chr5:60241196 [GRCh37]
Chr5:5q12.1		 pathogenic|uncertain significance|no classifications from unflagged records
NM_000082.4(ERCC8):c.1042-2A>G single nucleotide variant Cockayne syndrome type 1 [RCV000666696]|Cockayne syndrome type 1 [RCV000763546]|not provided [RCV001379970] Chr5:60887522 [GRCh38]
Chr5:60183349 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
GRCh37/hg19 5q12.1(chr5:60018949-60230718)x1 copy number loss not provided [RCV000682560] Chr5:60018949..60230718 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1042-1G>A single nucleotide variant Cockayne syndrome type 1 [RCV000674160] Chr5:60887521 [GRCh38]
Chr5:60183348 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.77+2T>G single nucleotide variant Cockayne syndrome type 1 [RCV000668687]|not provided [RCV002532079] Chr5:60944930 [GRCh38]
Chr5:60240757 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.600dup (p.Ile201fs) duplication Cockayne syndrome type 1 [RCV000668715]|Cockayne syndrome type 1 [RCV005034249]|not provided [RCV001385994] Chr5:60902458..60902459 [GRCh38]
Chr5:60198285..60198286 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg) single nucleotide variant Cockayne syndrome [RCV001797788]|Cockayne syndrome type 1 [RCV000721935]|Cockayne syndrome type 1 [RCV002477669]|not provided [RCV002535019] Chr5:60898350 [GRCh38]
Chr5:60194177 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_174889.5(NDUFAF2):c.13C>T (p.Gln5Ter) single nucleotide variant Cockayne syndrome type 1 [RCV000674445]|Mitochondrial complex 1 deficiency, nuclear type 10 [RCV004788106] Chr5:60945268 [GRCh38]
Chr5:60241095 [GRCh37]
Chr5:5q12.1		 likely pathogenic|uncertain significance
NM_000082.4(ERCC8):c.843+1G>T single nucleotide variant Cockayne syndrome type 1 [RCV000674447]|not provided [RCV001868280] Chr5:60898275 [GRCh38]
Chr5:60194102 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.439CAT[1] (p.His148del) microsatellite Cockayne syndrome type 1 [RCV000667129] Chr5:60904829..60904831 [GRCh38]
Chr5:60200656..60200658 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.394_398del (p.Leu132fs) deletion Cockayne syndrome type 1 [RCV000670506]|not provided [RCV000809115] Chr5:60918266..60918270 [GRCh38]
Chr5:60214093..60214097 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.719-2A>T single nucleotide variant Cockayne syndrome type 1 [RCV000665092] Chr5:60898402 [GRCh38]
Chr5:60194229 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.618-1G>A single nucleotide variant Cockayne syndrome type 1 [RCV000666033]|Cockayne syndrome type 1 [RCV005034240]|not provided [RCV001281593] Chr5:60899728 [GRCh38]
Chr5:60195555 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.10:g.60945364C>T single nucleotide variant Cockayne syndrome type 1 [RCV000674171] Chr5:60945364 [GRCh38]
Chr5:60241191 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1122+1G>A single nucleotide variant Cockayne syndrome type 1 [RCV000674649] Chr5:60887439 [GRCh38]
Chr5:60183266 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.928del (p.Val310fs) deletion Cockayne syndrome type 1 [RCV000674893] Chr5:60891002 [GRCh38]
Chr5:60186829 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.482-2A>G single nucleotide variant Cockayne syndrome type 1 [RCV000668671]|not provided [RCV002531205] Chr5:60903718 [GRCh38]
Chr5:60199545 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) single nucleotide variant Cockayne syndrome type 1 [RCV000668467]|Leigh syndrome [RCV000383048]|Mitochondrial complex I deficiency [RCV000326140] Chr5:60945273 [GRCh38]
Chr5:60241100 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.551-1G>A single nucleotide variant Cockayne syndrome type 1 [RCV000674856]|not provided [RCV004702307] Chr5:60902509 [GRCh38]
Chr5:60198336 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1181AAG[1] (p.Glu395del) microsatellite Cockayne syndrome type 1 [RCV000672803] Chr5:60874620..60874622 [GRCh38]
Chr5:60170447..60170449 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.313_314del (p.Val105fs) deletion Cockayne syndrome type 1 [RCV000674994]|not provided [RCV002531367] Chr5:60918350..60918351 [GRCh38]
Chr5:60214177..60214178 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.399+1G>A single nucleotide variant Cockayne syndrome [RCV004800514]|Cockayne syndrome type 1 [RCV000664613]|not provided [RCV001378262] Chr5:60918264 [GRCh38]
Chr5:60214091 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.1042-1G>C single nucleotide variant Cockayne syndrome type 1 [RCV000666637] Chr5:60887521 [GRCh38]
Chr5:60183348 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.719-2A>G single nucleotide variant Cockayne syndrome type 1 [RCV000667609] Chr5:60898402 [GRCh38]
Chr5:60194229 [GRCh37]
Chr5:5q12.1		 likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000082.4(ERCC8):c.1122+193G>A single nucleotide variant not provided [RCV001530893] Chr5:60887247 [GRCh38]
Chr5:60183074 [GRCh37]
Chr5:5q12.1		 benign
GRCh37/hg19 5q12.1(chr5:60170003-60732552)x3 copy number gain not provided [RCV000744749] Chr5:60170003..60732552 [GRCh37]
Chr5:5q12.1		 benign
GRCh37/hg19 5q12.1(chr5:60183309-60200993)x1 copy number loss not provided [RCV000744750] Chr5:60183309..60200993 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.400-293C>T single nucleotide variant not provided [RCV001665644] Chr5:60905166 [GRCh38]
Chr5:60200993 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.618-223G>A single nucleotide variant not provided [RCV001611889] Chr5:60899950 [GRCh38]
Chr5:60195777 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.849C>T (p.Asn283=) single nucleotide variant not provided [RCV000941398] Chr5:60891081 [GRCh38]
Chr5:60186908 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+148_481+163del deletion not provided [RCV001691856] Chr5:60904629..60904644 [GRCh38]
Chr5:60200456..60200471 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.718+219A>C single nucleotide variant not provided [RCV001574326] Chr5:60899408 [GRCh38]
Chr5:60195235 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del) deletion Cockayne syndrome [RCV003492265]|ERCC8-related disorder [RCV003399385]|not provided [RCV001576345] Chr5:60902443..60902448 [GRCh38]
Chr5:60198270..60198275 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.348A>G (p.Thr116=) single nucleotide variant not provided [RCV000944839] Chr5:60918316 [GRCh38]
Chr5:60214143 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.9G>A (p.Gly3=) single nucleotide variant not provided [RCV000945137] Chr5:60945000 [GRCh38]
Chr5:60240827 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.627T>C (p.Ser209=) single nucleotide variant not provided [RCV000944994] Chr5:60899718 [GRCh38]
Chr5:60195545 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1042-8T>C single nucleotide variant not provided [RCV000941865] Chr5:60887528 [GRCh38]
Chr5:60183355 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.237A>G (p.Gln79=) single nucleotide variant not provided [RCV000864681] Chr5:60922092 [GRCh38]
Chr5:60217919 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.126C>T (p.His42=) single nucleotide variant not provided [RCV000975959] Chr5:60928911 [GRCh38]
Chr5:60224738 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.399+8C>T single nucleotide variant not provided [RCV000942598] Chr5:60918257 [GRCh38]
Chr5:60214084 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.192A>G (p.Ser64=) single nucleotide variant not provided [RCV000944669] Chr5:60922137 [GRCh38]
Chr5:60217964 [GRCh37]
Chr5:5q12.1		 likely benign
NC_000005.10:g.(?_60874605)_(60945392_?)del deletion not provided [RCV001031089] Chr5:60170432..60241219 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.493G>T (p.Gly165Ter) single nucleotide variant not provided [RCV001068160] Chr5:60903705 [GRCh38]
Chr5:60199532 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.10:g.(?_60887430)_(60904883_?)del deletion not provided [RCV001031868] Chr5:60183257..60200710 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NC_000005.10:g.(?_60874605)_(61099042_?)del deletion not provided [RCV001032891] Chr5:60170432..60394869 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1053del (p.Ser351fs) deletion not provided [RCV001049476] Chr5:60887509 [GRCh38]
Chr5:60183336 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.1123-3dup duplication not provided [RCV000871325] Chr5:60874685..60874686 [GRCh38]
Chr5:60170512..60170513 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.552T>A (p.Gly184=) single nucleotide variant not provided [RCV000941003] Chr5:60902507 [GRCh38]
Chr5:60198334 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.843+7G>A single nucleotide variant ERCC8-related disorder [RCV003955723]|not provided [RCV000874750] Chr5:60898269 [GRCh38]
Chr5:60194096 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1042-9A>C single nucleotide variant not provided [RCV000870954] Chr5:60887529 [GRCh38]
Chr5:60183356 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.528A>C (p.Gly176=) single nucleotide variant not provided [RCV000943856] Chr5:60903670 [GRCh38]
Chr5:60199497 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1089A>C (p.Pro363=) single nucleotide variant not provided [RCV000924165] Chr5:60887473 [GRCh38]
Chr5:60183300 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.844-7C>T single nucleotide variant not provided [RCV000966346] Chr5:60891093 [GRCh38]
Chr5:60186920 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-6T>C single nucleotide variant not provided [RCV000983225] Chr5:60918394 [GRCh38]
Chr5:60214221 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.523T>C (p.Ser175Pro) single nucleotide variant Cockayne syndrome type 1 [RCV002284299] Chr5:60903675 [GRCh38]
Chr5:60199502 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro) single nucleotide variant Cockayne syndrome type 1 [RCV001153536]|Cockayne syndrome type 1 [RCV005392487]|not provided [RCV000871448] Chr5:60899690 [GRCh38]
Chr5:60195517 [GRCh37]
Chr5:5q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000082.4(ERCC8):c.650del (p.Arg217fs) deletion Cockayne syndrome type 1 [RCV001809807]|not provided [RCV000793007] Chr5:60899695 [GRCh38]
Chr5:60195522 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 copy number loss Intellectual disability [RCV000984869] Chr5:58785203..73519962 [GRCh38]
Chr5:5q11.2-13.2		 likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60239442-60277057)x1 copy number loss not provided [RCV000850036] Chr5:60239442..60277057 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60101557-60809784)x3 copy number gain not provided [RCV000847945] Chr5:60101557..60809784 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60133899-60284640)x1 copy number loss not provided [RCV000848250] Chr5:60133899..60284640 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.10:g.(?_60874605)_(61073224_?)del deletion not provided [RCV000802579] Chr5:60874605..61073224 [GRCh38]
Chr5:60170432..60369051 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.593_594dup (p.Asp199fs) duplication not provided [RCV001091911] Chr5:60902464..60902465 [GRCh38]
Chr5:60198291..60198292 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.10:g.(?_60918255)_(60918398_?)del deletion not provided [RCV000818562] Chr5:60918255..60918398 [GRCh38]
Chr5:60214082..60214225 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.10:g.(?_60903570)_(60945392_?)del deletion not provided [RCV000820574] Chr5:60903570..60945392 [GRCh38]
Chr5:60199397..60241219 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) single nucleotide variant Cockayne syndrome [RCV003235400]|Cockayne syndrome type 1 [RCV001542580]|Cockayne syndrome type 1 [RCV005036161]|not provided [RCV000799937] Chr5:60904792 [GRCh38]
Chr5:60200619 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 5q12.1(chr5:60222511-60334925)x1 copy number loss not provided [RCV000846554] Chr5:60222511..60334925 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60116532-60809784)x3 copy number gain not provided [RCV000846596] Chr5:60116532..60809784 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.504A>G (p.Val168=) single nucleotide variant Cockayne syndrome type 1 [RCV001153538]|not provided [RCV000870655] Chr5:60903694 [GRCh38]
Chr5:60199521 [GRCh37]
Chr5:5q12.1		 benign|likely benign
GRCh37/hg19 5q12.1(chr5:60100026-60227670)x1 copy number loss not provided [RCV001005678] Chr5:60100026..60227670 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3 copy number gain not provided [RCV000848282] Chr5:60101557..60658345 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.546A>G (p.Leu182=) single nucleotide variant not provided [RCV000958540] Chr5:60903652 [GRCh38]
Chr5:60199479 [GRCh37]
Chr5:5q12.1		 likely benign
GRCh37/hg19 5q12.1(chr5:60166094-60217776)x1 copy number loss not provided [RCV000846450] Chr5:60166094..60217776 [GRCh37]
Chr5:5q12.1		 pathogenic
GRCh37/hg19 5q12.1(chr5:59842939-60331361)x1 copy number loss not provided [RCV000848414] Chr5:59842939..60331361 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60101557-60658345)x3 copy number gain not provided [RCV000848054] Chr5:60101557..60658345 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.481+1G>C single nucleotide variant Cockayne syndrome type 1 [RCV000995540] Chr5:60904791 [GRCh38]
Chr5:60200618 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala) single nucleotide variant Cockayne syndrome type 1 [RCV001250422] Chr5:60898322 [GRCh38]
Chr5:60194149 [GRCh37]
Chr5:5q12.1		 likely pathogenic
GRCh37/hg19 5q12.1(chr5:60133899-60284640)x1 copy number loss not provided [RCV000846725] Chr5:60133899..60284640 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*644G>A single nucleotide variant Cockayne syndrome type 1 [RCV001156024] Chr5:60873971 [GRCh38]
Chr5:60169798 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*583T>C single nucleotide variant Cockayne syndrome type 1 [RCV001156026] Chr5:60874032 [GRCh38]
Chr5:60169859 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.590G>A (p.Arg197His) single nucleotide variant Cockayne syndrome type 1 [RCV001153537] Chr5:60902469 [GRCh38]
Chr5:60198296 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*116T>C single nucleotide variant Cockayne syndrome type 1 [RCV001157742] Chr5:60874499 [GRCh38]
Chr5:60170326 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*7T>A single nucleotide variant Cockayne syndrome type 1 [RCV001157744] Chr5:60874608 [GRCh38]
Chr5:60170435 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.551-178C>T single nucleotide variant not provided [RCV001577601] Chr5:60902686 [GRCh38]
Chr5:60198513 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.174-243T>G single nucleotide variant not provided [RCV001549756] Chr5:60922398 [GRCh38]
Chr5:60218225 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.618-65G>A single nucleotide variant not provided [RCV001638662] Chr5:60899792 [GRCh38]
Chr5:60195619 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.481+158C>T single nucleotide variant not provided [RCV001561138] Chr5:60904634 [GRCh38]
Chr5:60200461 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-48A>G single nucleotide variant not provided [RCV001708945] Chr5:60874731 [GRCh38]
Chr5:60170558 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.618-91A>G single nucleotide variant not provided [RCV001551268] Chr5:60899818 [GRCh38]
Chr5:60195645 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+160C>T single nucleotide variant not provided [RCV001557167] Chr5:60904632 [GRCh38]
Chr5:60200459 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.844-62G>T single nucleotide variant not provided [RCV001641103] Chr5:60891148 [GRCh38]
Chr5:60186975 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.481+150_481+163del deletion not provided [RCV001581378] Chr5:60904629..60904642 [GRCh38]
Chr5:60200456..60200469 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+108TA[22] microsatellite not provided [RCV001577943] Chr5:60904635..60904640 [GRCh38]
Chr5:60200462..60200467 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+108TA[17] microsatellite not provided [RCV001650458] Chr5:60904635..60904650 [GRCh38]
Chr5:60200462..60200477 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.957T>C (p.Tyr319=) single nucleotide variant not provided [RCV000931566] Chr5:60890973 [GRCh38]
Chr5:60186800 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1068C>T (p.Cys356=) single nucleotide variant not provided [RCV000930887] Chr5:60887494 [GRCh38]
Chr5:60183321 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1023A>T (p.Val341=) single nucleotide variant not provided [RCV000930913] Chr5:60890907 [GRCh38]
Chr5:60186734 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.618-8C>A single nucleotide variant not provided [RCV000978734] Chr5:60899735 [GRCh38]
Chr5:60195562 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1023A>G (p.Val341=) single nucleotide variant Cockayne syndrome type 1 [RCV001152253]|not provided [RCV000944271] Chr5:60890907 [GRCh38]
Chr5:60186734 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.485G>A (p.Gly162Asp) single nucleotide variant Cockayne syndrome type 1 [RCV001153539] Chr5:60903713 [GRCh38]
Chr5:60199540 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.440_449dup (p.Pro151fs) duplication not provided [RCV001245154] Chr5:60904823..60904824 [GRCh38]
Chr5:60200650..60200651 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.911G>A (p.Ser304Asn) single nucleotide variant Cockayne syndrome type 1 [RCV001152256]|not provided [RCV002559470] Chr5:60891019 [GRCh38]
Chr5:60186846 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*458T>C single nucleotide variant Cockayne syndrome type 1 [RCV001156027]|not provided [RCV004716702] Chr5:60874157 [GRCh38]
Chr5:60169984 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.738G>A (p.Gly246=) single nucleotide variant not provided [RCV000935118] Chr5:60898381 [GRCh38]
Chr5:60194208 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1140A>G (p.Gln380=) single nucleotide variant not provided [RCV000911864] Chr5:60874666 [GRCh38]
Chr5:60170493 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.645T>C (p.Asp215=) single nucleotide variant not provided [RCV002771053] Chr5:60899700 [GRCh38]
Chr5:60195527 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.176T>C (p.Met59Thr) single nucleotide variant Cockayne syndrome [RCV004701204]|Cockayne syndrome type 1 [RCV005038792] Chr5:60922153 [GRCh38]
Chr5:60217980 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.481+108TA[21] microsatellite not provided [RCV001570956] Chr5:60904635..60904642 [GRCh38]
Chr5:60200462..60200469 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.173+950T>C single nucleotide variant not provided [RCV001669362] Chr5:60927914 [GRCh38]
Chr5:60223741 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.173+835G>C single nucleotide variant not provided [RCV001678056] Chr5:60928029 [GRCh38]
Chr5:60223856 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.481+152_481+163del deletion not provided [RCV001571750] Chr5:60904629..60904640 [GRCh38]
Chr5:60200456..60200467 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.350C>A (p.Ser117Ter) single nucleotide variant not provided [RCV001008025] Chr5:60918314 [GRCh38]
Chr5:60214141 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.481+140_481+163del deletion not provided [RCV001655941] Chr5:60904629..60904652 [GRCh38]
Chr5:60200456..60200479 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.276-138A>C single nucleotide variant not provided [RCV001549540] Chr5:60918526 [GRCh38]
Chr5:60214353 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.550+112G>A single nucleotide variant not provided [RCV001616286] Chr5:60903536 [GRCh38]
Chr5:60199363 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.78-128G>A single nucleotide variant not provided [RCV001658562] Chr5:60929087 [GRCh38]
Chr5:60224914 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.1041+98G>A single nucleotide variant not provided [RCV001598957] Chr5:60890791 [GRCh38]
Chr5:60186618 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.399+3A>G single nucleotide variant Cockayne syndrome type 1 [RCV001156155] Chr5:60918262 [GRCh38]
Chr5:60214089 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*602C>G single nucleotide variant Cockayne syndrome type 1 [RCV001156025] Chr5:60874013 [GRCh38]
Chr5:60169840 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.*113A>G single nucleotide variant Cockayne syndrome type 1 [RCV001157743] Chr5:60874502 [GRCh38]
Chr5:60170329 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.945C>T (p.Thr315=) single nucleotide variant Cockayne syndrome type 1 [RCV001152255]|not provided [RCV002559469] Chr5:60890985 [GRCh38]
Chr5:60186812 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.419T>G (p.Phe140Cys) single nucleotide variant Cockayne syndrome type 1 [RCV001156154] Chr5:60904854 [GRCh38]
Chr5:60200681 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.382G>A (p.Asp128Asn) single nucleotide variant Cockayne syndrome type 1 [RCV001156156] Chr5:60918282 [GRCh38]
Chr5:60214109 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.481+134_481+163del deletion not provided [RCV001588484] Chr5:60904629..60904658 [GRCh38]
Chr5:60200456..60200485 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+152_481+161del deletion not provided [RCV001541556] Chr5:60904631..60904640 [GRCh38]
Chr5:60200458..60200467 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+154_481+163del deletion not provided [RCV001685042] Chr5:60904629..60904638 [GRCh38]
Chr5:60200456..60200465 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.*377C>G single nucleotide variant Cockayne syndrome type 1 [RCV001156028] Chr5:60874238 [GRCh38]
Chr5:60170065 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.10:g.(?_60904782)_(60945392_?)del deletion not provided [RCV001032235] Chr5:60200609..60241219 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.-33C>T single nucleotide variant Cockayne syndrome type 1 [RCV001157841] Chr5:60945041 [GRCh38]
Chr5:60240868 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60223740-60355471)x1 copy number loss not provided [RCV001005679] Chr5:60223740..60355471 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.302G>C (p.Ser101Thr) single nucleotide variant Cockayne syndrome type 1 [RCV001156157]|Inborn genetic diseases [RCV004978066] Chr5:60918362 [GRCh38]
Chr5:60214189 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter) single nucleotide variant Cockayne syndrome [RCV003226423]|Cockayne syndrome type 1 [RCV001542579]|Cockayne syndrome type 1 [RCV002505567]|not provided [RCV001040625] Chr5:60898317 [GRCh38]
Chr5:60194144 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.1068C>A (p.Cys356Ter) single nucleotide variant not provided [RCV001203230] Chr5:60887494 [GRCh38]
Chr5:60183321 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.185G>A (p.Gly62Asp) single nucleotide variant Cockayne syndrome type 1 [RCV001090118] Chr5:60922144 [GRCh38]
Chr5:60217971 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1159G>C (p.Asp387His) single nucleotide variant Cockayne syndrome type 1 [RCV001157745] Chr5:60874647 [GRCh38]
Chr5:60170474 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.572_574del (p.Ala191del) deletion Cockayne syndrome type 1 [RCV002284301] Chr5:60902485..60902487 [GRCh38]
Chr5:60198312..60198314 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.976C>T (p.Gln326Ter) single nucleotide variant Cockayne syndrome type 1 [RCV001264150] Chr5:60890954 [GRCh38]
Chr5:60186781 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.642G>A (p.Trp214Ter) single nucleotide variant Cockayne syndrome type 1 [RCV001264271] Chr5:60899703 [GRCh38]
Chr5:60195530 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter) single nucleotide variant Cockayne syndrome type 1 [RCV001264272] Chr5:60918267 [GRCh38]
Chr5:60214094 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.300C>A (p.Tyr100Ter) single nucleotide variant Cockayne syndrome type 1 [RCV001264273] Chr5:60918364 [GRCh38]
Chr5:60214191 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.182C>G (p.Ser61Ter) single nucleotide variant Cockayne syndrome type 1 [RCV001264274]|Cockayne syndrome type 1 [RCV005038020]|not provided [RCV001880077] Chr5:60922147 [GRCh38]
Chr5:60217974 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.95T>A (p.Leu32Ter) single nucleotide variant Cockayne syndrome type 1 [RCV001264275] Chr5:60928942 [GRCh38]
Chr5:60224769 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.903T>A (p.Cys301Ter) single nucleotide variant Cockayne syndrome type 1 [RCV001264151] Chr5:60891027 [GRCh38]
Chr5:60186854 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.481+108TA[20] microsatellite not provided [RCV001568130] Chr5:60904635..60904644 [GRCh38]
Chr5:60200462..60200471 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.173+3_173+6del deletion not provided [RCV001281592] Chr5:60928858..60928861 [GRCh38]
Chr5:60224685..60224688 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.666T>C (p.Cys222=) single nucleotide variant not provided [RCV001397679] Chr5:60899679 [GRCh38]
Chr5:60195506 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.405A>G (p.Ala135=) single nucleotide variant not provided [RCV001391934] Chr5:60904868 [GRCh38]
Chr5:60200695 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.285T>C (p.Pro95=) single nucleotide variant not provided [RCV001422155] Chr5:60918379 [GRCh38]
Chr5:60214206 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.550+42C>T single nucleotide variant not provided [RCV001358498] Chr5:60903606 [GRCh38]
Chr5:60199433 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.445_446del (p.Met149fs) microsatellite not provided [RCV001383247] Chr5:60904827..60904828 [GRCh38]
Chr5:60200654..60200655 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.63A>G (p.Ala21=) single nucleotide variant not provided [RCV001392794] Chr5:60944946 [GRCh38]
Chr5:60240773 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.550+15T>C single nucleotide variant not provided [RCV001355581] Chr5:60903633 [GRCh38]
Chr5:60199460 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.77+8A>T single nucleotide variant not provided [RCV001421376] Chr5:60944924 [GRCh38]
Chr5:60240751 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.77G>A (p.Arg26Lys) single nucleotide variant not provided [RCV001507643] Chr5:60944932 [GRCh38]
Chr5:60240759 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1170C>T (p.Ser390=) single nucleotide variant not provided [RCV001396390] Chr5:60874636 [GRCh38]
Chr5:60170463 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.267C>G (p.Ser89=) single nucleotide variant not provided [RCV001486540] Chr5:60922062 [GRCh38]
Chr5:60217889 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.816G>A (p.Trp272Ter) single nucleotide variant not provided [RCV001389336] Chr5:60898303 [GRCh38]
Chr5:60194130 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.174-14dup duplication not provided [RCV001513590] Chr5:60922163..60922164 [GRCh38]
Chr5:60217990..60217991 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.551-4G>A single nucleotide variant not provided [RCV001487379] Chr5:60902512 [GRCh38]
Chr5:60198339 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1042-6dup duplication not provided [RCV001454348] Chr5:60887524..60887525 [GRCh38]
Chr5:60183351..60183352 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1092C>T (p.Ser364=) single nucleotide variant not provided [RCV001476719] Chr5:60887470 [GRCh38]
Chr5:60183297 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.129C>T (p.Gly43=) single nucleotide variant not provided [RCV001491484] Chr5:60928908 [GRCh38]
Chr5:60224735 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.121_130del (p.Ile41fs) deletion not provided [RCV001383528] Chr5:60928907..60928916 [GRCh38]
Chr5:60224734..60224743 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.3(ERCC8):c.78_79del microsatellite not provided [RCV001388472] Chr5:60928958..60928959 [GRCh38]
Chr5:60224785..60224786 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.482-2A>T single nucleotide variant not provided [RCV001379506] Chr5:60903718 [GRCh38]
Chr5:60199545 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.183A>T (p.Ser61=) single nucleotide variant not provided [RCV001406187] Chr5:60922146 [GRCh38]
Chr5:60217973 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.393A>G (p.Thr131=) single nucleotide variant not provided [RCV001491959] Chr5:60918271 [GRCh38]
Chr5:60214098 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.348A>T (p.Thr116=) single nucleotide variant not provided [RCV001416342] Chr5:60918316 [GRCh38]
Chr5:60214143 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.57G>C (p.Arg19=) single nucleotide variant not provided [RCV001461103] Chr5:60944952 [GRCh38]
Chr5:60240779 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) single nucleotide variant Cockayne syndrome type 1 [RCV002501537]|not provided [RCV001435244] Chr5:60918274 [GRCh38]
Chr5:60214101 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-4G>A single nucleotide variant not provided [RCV001445841] Chr5:60918392 [GRCh38]
Chr5:60214219 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.162T>G (p.Val54=) single nucleotide variant not provided [RCV001411741] Chr5:60928875 [GRCh38]
Chr5:60224702 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.505C>T (p.Gln169Ter) single nucleotide variant not provided [RCV001382286] Chr5:60903693 [GRCh38]
Chr5:60199520 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.581G>A (p.Trp194Ter) single nucleotide variant not provided [RCV001389429] Chr5:60902478 [GRCh38]
Chr5:60198305 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.57G>A (p.Arg19=) single nucleotide variant not provided [RCV001409755] Chr5:60944952 [GRCh38]
Chr5:60240779 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.174-1G>A single nucleotide variant not provided [RCV001379347] Chr5:60922156 [GRCh38]
Chr5:60217983 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.844-299C>T single nucleotide variant not provided [RCV001541872] Chr5:60891385 [GRCh38]
Chr5:60187212 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.356C>A (p.Ser119Ter) single nucleotide variant not provided [RCV001381142] Chr5:60918308 [GRCh38]
Chr5:60214135 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.522G>A (p.Lys174=) single nucleotide variant not provided [RCV001399879] Chr5:60903676 [GRCh38]
Chr5:60199503 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.759T>C (p.Phe253=) single nucleotide variant not provided [RCV001429338] Chr5:60898360 [GRCh38]
Chr5:60194187 [GRCh37]
Chr5:5q12.1		 likely benign
NC_000005.9:g.(?_60240749)_(60241219_?)del deletion not provided [RCV001390371] Chr5:60240749..60241219 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60186706)_(60241219_?)del deletion not provided [RCV001390372] Chr5:60186706..60241219 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.617+7T>G single nucleotide variant not provided [RCV001408415] Chr5:60902435 [GRCh38]
Chr5:60198262 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.441T>C (p.His147=) single nucleotide variant not provided [RCV001445444] Chr5:60904832 [GRCh38]
Chr5:60200659 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-1G>A single nucleotide variant not provided [RCV001379883] Chr5:60918389 [GRCh38]
Chr5:60214216 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.1041+1G>T single nucleotide variant Cockayne syndrome type 1 [RCV005038206]|not provided [RCV001388975] Chr5:60890888 [GRCh38]
Chr5:60186715 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.1123-95A>G single nucleotide variant not provided [RCV001535251] Chr5:60874778 [GRCh38]
Chr5:60170605 [GRCh37]
Chr5:5q12.1		 benign
NC_000005.9:g.(?_60217871)_(60394869_?)del deletion not provided [RCV001387876] Chr5:60217871..60394869 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170432)_(60224796_?)del deletion not provided [RCV001387877] Chr5:60170432..60224796 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170432)_(60217992_?)del deletion not provided [RCV001387878] Chr5:60170432..60217992 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170432)_(60195564_?)del deletion not provided [RCV001387879] Chr5:60170432..60195564 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.990T>G (p.Leu330=) single nucleotide variant not provided [RCV001442927] Chr5:60890940 [GRCh38]
Chr5:60186767 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.550+9A>G single nucleotide variant not provided [RCV001438352] Chr5:60903639 [GRCh38]
Chr5:60199466 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.550+274G>A single nucleotide variant not provided [RCV001643316] Chr5:60903374 [GRCh38]
Chr5:60199201 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.77+10del deletion not provided [RCV001494953] Chr5:60944922 [GRCh38]
Chr5:60240749 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1149G>A (p.Pro383=) single nucleotide variant not provided [RCV001458337] Chr5:60874657 [GRCh38]
Chr5:60170484 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.294C>T (p.His98=) single nucleotide variant not provided [RCV001462757] Chr5:60918370 [GRCh38]
Chr5:60214197 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+157AC[4] microsatellite not provided [RCV001617656] Chr5:60904622..60904627 [GRCh38]
Chr5:60200449..60200454 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.1123-4T>C single nucleotide variant not provided [RCV001470338] Chr5:60874687 [GRCh38]
Chr5:60170514 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.275+230T>G single nucleotide variant not provided [RCV001641037] Chr5:60921824 [GRCh38]
Chr5:60217651 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.225C>T (p.Asn75=) single nucleotide variant not provided [RCV001504249] Chr5:60922104 [GRCh38]
Chr5:60217931 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.378A>G (p.Val126=) single nucleotide variant not provided [RCV001488389] Chr5:60918286 [GRCh38]
Chr5:60214113 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.18C>G (p.Ser6=) single nucleotide variant not provided [RCV001453469] Chr5:60944991 [GRCh38]
Chr5:60240818 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-288A>T single nucleotide variant not provided [RCV001685774] Chr5:60918676 [GRCh38]
Chr5:60214503 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.481+132_481+159del deletion not provided [RCV001540684] Chr5:60904633..60904660 [GRCh38]
Chr5:60200460..60200487 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.99T>C (p.Asn33=) single nucleotide variant not provided [RCV001417121] Chr5:60928938 [GRCh38]
Chr5:60224765 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.411A>G (p.Val137=) single nucleotide variant not provided [RCV001491290] Chr5:60904862 [GRCh38]
Chr5:60200689 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.275+9T>A single nucleotide variant not provided [RCV001451752] Chr5:60922045 [GRCh38]
Chr5:60217872 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1190G>A (p.Ter397=) single nucleotide variant not provided [RCV001496448] Chr5:60874616 [GRCh38]
Chr5:60170443 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.603C>T (p.Ile201=) single nucleotide variant not provided [RCV001458968] Chr5:60902456 [GRCh38]
Chr5:60198283 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.234A>G (p.Arg78=) single nucleotide variant not provided [RCV001451847] Chr5:60922095 [GRCh38]
Chr5:60217922 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.711T>C (p.Val237=) single nucleotide variant not provided [RCV001402232] Chr5:60899634 [GRCh38]
Chr5:60195461 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1164C>G (p.Ala388=) single nucleotide variant not provided [RCV001424128] Chr5:60874642 [GRCh38]
Chr5:60170469 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.275+1G>T single nucleotide variant Abnormality of the nervous system [RCV001814312]|Cockayne syndrome type 1 [RCV004546644]|not provided [RCV001377498] Chr5:60922053 [GRCh38]
Chr5:60217880 [GRCh37]
Chr5:5q12.1		 likely pathogenic|uncertain significance
NM_000082.4(ERCC8):c.618-5C>T single nucleotide variant not provided [RCV001430744] Chr5:60899732 [GRCh38]
Chr5:60195559 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+124_481+161del deletion not provided [RCV001732452] Chr5:60904631..60904668 [GRCh38]
Chr5:60200458..60200495 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.481+157AC[5] microsatellite not provided [RCV001754523] Chr5:60904622..60904625 [GRCh38]
Chr5:60200449..60200452 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.1183G>A (p.Glu395Lys) single nucleotide variant not provided [RCV001896705] Chr5:60874623 [GRCh38]
Chr5:60170450 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.611C>A (p.Thr204Lys) single nucleotide variant not provided [RCV001929418]|not specified [RCV004770288] Chr5:60902448 [GRCh38]
Chr5:60198275 [GRCh37]
Chr5:5q12.1		 likely pathogenic|uncertain significance
NM_000082.4(ERCC8):c.1103C>G (p.Pro368Arg) single nucleotide variant not provided [RCV001873841] Chr5:60887459 [GRCh38]
Chr5:60183286 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(?_60186706)_(60200710_?)del deletion not provided [RCV001949691] Chr5:60186706..60200710 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1148C>T (p.Pro383Leu) single nucleotide variant not provided [RCV001915294] Chr5:60874658 [GRCh38]
Chr5:60170485 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.994G>T (p.Gly332Ter) single nucleotide variant not provided [RCV001945649] Chr5:60890936 [GRCh38]
Chr5:60186763 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.509T>C (p.Leu170Pro) single nucleotide variant not provided [RCV002021135] Chr5:60903689 [GRCh38]
Chr5:60199516 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.966C>G (p.Tyr322Ter) single nucleotide variant See cases [RCV003156146]|not provided [RCV002007483] Chr5:60890964 [GRCh38]
Chr5:60186791 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.174-1G>T single nucleotide variant not provided [RCV001986941] Chr5:60922156 [GRCh38]
Chr5:60217983 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.1156G>A (p.Glu386Lys) single nucleotide variant not provided [RCV001895034] Chr5:60874650 [GRCh38]
Chr5:60170477 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.507A>C (p.Gln169His) single nucleotide variant Inborn genetic diseases [RCV002548107]|not provided [RCV002004385] Chr5:60903691 [GRCh38]
Chr5:60199518 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:59929560-61133024) copy number loss not specified [RCV002053497] Chr5:59929560..61133024 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:60238428-60339364) copy number loss not specified [RCV002053498] Chr5:60238428..60339364 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.856A>T (p.Lys286Ter) single nucleotide variant not provided [RCV001965325] Chr5:60891074 [GRCh38]
Chr5:60186901 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.445dup (p.Met149fs) duplication not provided [RCV001871349] Chr5:60904827..60904828 [GRCh38]
Chr5:60200654..60200655 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.50G>C (p.Arg17Pro) single nucleotide variant not provided [RCV001912600] Chr5:60944959 [GRCh38]
Chr5:60240786 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(?_60223572)_(60224806_?)del deletion not provided [RCV001910227] Chr5:60223572..60224806 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.914C>G (p.Ser305Ter) single nucleotide variant not provided [RCV001913148] Chr5:60891016 [GRCh38]
Chr5:60186843 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.162del (p.Glu55fs) deletion Cockayne syndrome type 1 [RCV005038441]|not provided [RCV001886675] Chr5:60928875 [GRCh38]
Chr5:60224702 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.973G>A (p.Glu325Lys) single nucleotide variant not provided [RCV002037125] Chr5:60890957 [GRCh38]
Chr5:60186784 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.101_104del (p.Lys34fs) deletion not provided [RCV001963031] Chr5:60928933..60928936 [GRCh38]
Chr5:60224760..60224763 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.925T>G (p.Phe309Val) single nucleotide variant not provided [RCV001941143] Chr5:60891005 [GRCh38]
Chr5:60186832 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1123-2A>G single nucleotide variant not provided [RCV001952399] Chr5:60874685 [GRCh38]
Chr5:60170512 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.381G>A (p.Trp127Ter) single nucleotide variant not provided [RCV002037873] Chr5:60918283 [GRCh38]
Chr5:60214110 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.843+1G>C single nucleotide variant not provided [RCV001942200] Chr5:60898275 [GRCh38]
Chr5:60194102 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1015T>G (p.Cys339Gly) single nucleotide variant not provided [RCV001916457] Chr5:60890915 [GRCh38]
Chr5:60186742 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(?_60183257)_(60394869_?)del deletion not provided [RCV001959032] Chr5:60183257..60394869 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.223_227del (p.Asn75fs) deletion Cockayne syndrome type 1 [RCV005032005]|not provided [RCV001939676] Chr5:60922102..60922106 [GRCh38]
Chr5:60217929..60217933 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170442)_(60790257_?)dup duplication not provided [RCV001980034] Chr5:60170442..60790257 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.174C>A (p.Tyr58Ter) single nucleotide variant Cockayne syndrome type 1 [RCV005038394]|ERCC8-related disorder [RCV003394304]|not provided [RCV001905194] Chr5:60922155 [GRCh38]
Chr5:60217982 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.985A>G (p.Met329Val) single nucleotide variant not provided [RCV002026567] Chr5:60890945 [GRCh38]
Chr5:60186772 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.353G>A (p.Ser118Asn) single nucleotide variant not provided [RCV002033746] Chr5:60918311 [GRCh38]
Chr5:60214138 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.565A>G (p.Ile189Val) single nucleotide variant not provided [RCV001906761] Chr5:60902494 [GRCh38]
Chr5:60198321 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(?_60170442)_(60200720_?)del deletion not provided [RCV004580541] Chr5:60170442..60200720 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.825del (p.Asn276fs) deletion not provided [RCV001880578] Chr5:60898294 [GRCh38]
Chr5:60194121 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1041+19T>A single nucleotide variant not provided [RCV002192521] Chr5:60890870 [GRCh38]
Chr5:60186697 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.516C>T (p.Asp172=) single nucleotide variant not provided [RCV002192725] Chr5:60903682 [GRCh38]
Chr5:60199509 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.432T>G (p.Val144=) single nucleotide variant not provided [RCV002189760] Chr5:60904841 [GRCh38]
Chr5:60200668 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.984T>C (p.Thr328=) single nucleotide variant not provided [RCV002093154] Chr5:60890946 [GRCh38]
Chr5:60186773 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.474G>A (p.Leu158=) single nucleotide variant not provided [RCV002172344] Chr5:60904799 [GRCh38]
Chr5:60200626 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.318G>A (p.Gln106=) single nucleotide variant not provided [RCV002147294] Chr5:60918346 [GRCh38]
Chr5:60214173 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.771A>C (p.Gly257=) single nucleotide variant not provided [RCV002209571] Chr5:60898348 [GRCh38]
Chr5:60194175 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1095A>G (p.Leu365=) single nucleotide variant not provided [RCV002144692] Chr5:60887467 [GRCh38]
Chr5:60183294 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.726T>G (p.Thr242=) single nucleotide variant not provided [RCV002206663] Chr5:60898393 [GRCh38]
Chr5:60194220 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1041+8T>A single nucleotide variant not provided [RCV002130911] Chr5:60890881 [GRCh38]
Chr5:60186708 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.617+6dup duplication not provided [RCV002193876] Chr5:60902435..60902436 [GRCh38]
Chr5:60198262..60198263 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.1164C>T (p.Ala388=) single nucleotide variant not provided [RCV002121925] Chr5:60874642 [GRCh38]
Chr5:60170469 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.173+11T>C single nucleotide variant not provided [RCV002101154] Chr5:60928853 [GRCh38]
Chr5:60224680 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1047T>C (p.Leu349=) single nucleotide variant not provided [RCV002120786] Chr5:60887515 [GRCh38]
Chr5:60183342 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.210T>A (p.Leu70=) single nucleotide variant not provided [RCV002163509] Chr5:60922119 [GRCh38]
Chr5:60217946 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1044A>G (p.Glu348=) single nucleotide variant not provided [RCV002178102] Chr5:60887518 [GRCh38]
Chr5:60183345 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.719-9T>A single nucleotide variant not provided [RCV002084244] Chr5:60898409 [GRCh38]
Chr5:60194236 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.933A>T (p.Pro311=) single nucleotide variant not provided [RCV002178212] Chr5:60890997 [GRCh38]
Chr5:60186824 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.942C>T (p.Ser314=) single nucleotide variant not provided [RCV002120832] Chr5:60890988 [GRCh38]
Chr5:60186815 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+9G>T single nucleotide variant not provided [RCV002099279] Chr5:60904783 [GRCh38]
Chr5:60200610 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.951T>C (p.Ala317=) single nucleotide variant not provided [RCV002182185] Chr5:60890979 [GRCh38]
Chr5:60186806 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+8A>G single nucleotide variant not provided [RCV002218427] Chr5:60904784 [GRCh38]
Chr5:60200611 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.718+8A>G single nucleotide variant not provided [RCV002216589] Chr5:60899619 [GRCh38]
Chr5:60195446 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.719-8C>T single nucleotide variant not provided [RCV002220649] Chr5:60898408 [GRCh38]
Chr5:60194235 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1017C>T (p.Cys339=) single nucleotide variant not provided [RCV002183219] Chr5:60890913 [GRCh38]
Chr5:60186740 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.551-8A>G single nucleotide variant not provided [RCV002162051] Chr5:60902516 [GRCh38]
Chr5:60198343 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-8T>G single nucleotide variant not provided [RCV002175247] Chr5:60874691 [GRCh38]
Chr5:60170518 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.702A>G (p.Ser234=) single nucleotide variant not provided [RCV002154250] Chr5:60899643 [GRCh38]
Chr5:60195470 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.528A>G (p.Gly176=) single nucleotide variant not provided [RCV002180845] Chr5:60903670 [GRCh38]
Chr5:60199497 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.400-5A>G single nucleotide variant not provided [RCV002163108] Chr5:60904878 [GRCh38]
Chr5:60200705 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.313G>A (p.Val105Ile) single nucleotide variant not provided [RCV003112734] Chr5:60918351 [GRCh38]
Chr5:60214178 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(?_60170442)_(60170530_?)del deletion not provided [RCV003119266] Chr5:60170442..60170530 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(?_60214082)_(60241219_?)del deletion not provided [RCV003119267] Chr5:60214082..60241219 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60198259)_(60241219_?)del deletion not provided [RCV003119268] Chr5:60198259..60241219 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60194093)_(60369051_?)del deletion not provided [RCV003119269] Chr5:60194093..60369051 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60198259)_(60200710_?)del deletion not provided [RCV003119270] Chr5:60198259..60200710 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60186706)_(60199553_?)del deletion not provided [RCV003119271] Chr5:60186706..60199553 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170432)_(60199553_?)del deletion not provided [RCV003119272] Chr5:60170432..60199553 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170442)_(60218002_?)del deletion not provided [RCV003119273] Chr5:60170442..60218002 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60183247)_(60199563_?)del deletion not provided [RCV003119274] Chr5:60183247..60199563 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.427del (p.Thr143fs) deletion Cockayne syndrome type 1 [RCV003989821]|not provided [RCV003144994] Chr5:60904846 [GRCh38]
Chr5:60200673 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.435_440delinsCAG (p.His148del) indel not specified [RCV003230829] Chr5:60904833..60904838 [GRCh38]
Chr5:60200660..60200665 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(60200701_60214091)_(60240906_?)del deletion Cockayne syndrome [RCV002266220] Chr5:60214091..60240906 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.952G>A (p.Val318Ile) single nucleotide variant not provided [RCV002261764] Chr5:60890978 [GRCh38]
Chr5:60186805 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.409G>T (p.Val137Leu) single nucleotide variant not provided [RCV002293940] Chr5:60904864 [GRCh38]
Chr5:60200691 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.577T>C (p.Ser193Pro) single nucleotide variant not provided [RCV002267345] Chr5:60902482 [GRCh38]
Chr5:60198309 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.940A>C (p.Ser314Arg) single nucleotide variant not provided [RCV002261765] Chr5:60890990 [GRCh38]
Chr5:60186817 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.234A>T (p.Arg78Ser) single nucleotide variant not provided [RCV002469824] Chr5:60922095 [GRCh38]
Chr5:60217922 [GRCh37]
Chr5:5q12.1		 uncertain significance
NC_000005.9:g.(?_60169658)_(60183348_60186715)del deletion Cockayne syndrome [RCV003230834] Chr5:60169658..60183348 [GRCh37]
Chr5:5q12.1		 likely pathogenic
GRCh37/hg19 5q12.1(chr5:60040060-60643659)x3 copy number gain not provided [RCV002472459] Chr5:60040060..60643659 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.454_460dup (p.Thr154fs) microsatellite Cockayne syndrome type 1 [RCV002309417] Chr5:60904812..60904813 [GRCh38]
Chr5:60200639..60200640 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NC_000005.9:g.(60170511_60183266)_(60186914_60194102)dup duplication not specified [RCV002302611] Chr5:60183266..60186914 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.274dup (p.Arg92fs) duplication Cockayne syndrome type 1 [RCV002307005] Chr5:60922054..60922055 [GRCh38]
Chr5:60217881..60217882 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.559C>T (p.Gln187Ter) single nucleotide variant Cockayne syndrome type 1 [RCV002309610] Chr5:60902500 [GRCh38]
Chr5:60198327 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.592del (p.Tyr198fs) deletion Cockayne syndrome type 1 [RCV002310570] Chr5:60902467 [GRCh38]
Chr5:60198294 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.813C>G (p.Leu271=) single nucleotide variant not provided [RCV003014853] Chr5:60898306 [GRCh38]
Chr5:60194133 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.706G>A (p.Ala236Thr) single nucleotide variant not provided [RCV002815416] Chr5:60899639 [GRCh38]
Chr5:60195466 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.550+1_550+2del deletion not provided [RCV002838549] Chr5:60903646..60903647 [GRCh38]
Chr5:60199473..60199474 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.271G>C (p.Gly91Arg) single nucleotide variant Inborn genetic diseases [RCV003061676]|not provided [RCV003075038] Chr5:60922058 [GRCh38]
Chr5:60217885 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1024T>C (p.Phe342Leu) single nucleotide variant not provided [RCV003032947] Chr5:60890906 [GRCh38]
Chr5:60186733 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.379T>C (p.Trp127Arg) single nucleotide variant Inborn genetic diseases [RCV002883954] Chr5:60918285 [GRCh38]
Chr5:60214112 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1009G>T (p.Val337Phe) single nucleotide variant not provided [RCV002686158] Chr5:60890921 [GRCh38]
Chr5:60186748 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1041G>C (p.Gln347His) single nucleotide variant not provided [RCV002975644] Chr5:60890889 [GRCh38]
Chr5:60186716 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.34T>C (p.Leu12=) single nucleotide variant not provided [RCV003017322] Chr5:60944975 [GRCh38]
Chr5:60240802 [GRCh37]
Chr5:5q12.1		 likely benign
GRCh37/hg19 5q12.1(chr5:60019297-60230718)x1 copy number loss not provided [RCV002475652] Chr5:60019297..60230718 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.275G>A (p.Arg92Lys) single nucleotide variant not provided [RCV002775294] Chr5:60922054 [GRCh38]
Chr5:60217881 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.618-4T>C single nucleotide variant not provided [RCV003015897] Chr5:60899731 [GRCh38]
Chr5:60195558 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.151A>G (p.Ile51Val) single nucleotide variant Inborn genetic diseases [RCV004973599]|not provided [RCV002756025] Chr5:60928886 [GRCh38]
Chr5:60224713 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.103G>A (p.Asp35Asn) single nucleotide variant not provided [RCV002756377] Chr5:60928934 [GRCh38]
Chr5:60224761 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.27A>G (p.Gln9=) single nucleotide variant not provided [RCV003013229] Chr5:60944982 [GRCh38]
Chr5:60240809 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.891C>T (p.Phe297=) single nucleotide variant not provided [RCV002862985] Chr5:60891039 [GRCh38]
Chr5:60186866 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.309G>A (p.Glu103=) single nucleotide variant not provided [RCV003034748] Chr5:60918355 [GRCh38]
Chr5:60214182 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.810G>T (p.Arg270Ser) single nucleotide variant Inborn genetic diseases [RCV003069221]|not provided [RCV003081726] Chr5:60898309 [GRCh38]
Chr5:60194136 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.551-16A>G single nucleotide variant not provided [RCV002706015] Chr5:60902524 [GRCh38]
Chr5:60198351 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.750C>T (p.Gly250=) single nucleotide variant not provided [RCV003003228] Chr5:60898369 [GRCh38]
Chr5:60194196 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.328C>G (p.His110Asp) single nucleotide variant Inborn genetic diseases [RCV002870661] Chr5:60918336 [GRCh38]
Chr5:60214163 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.844-18A>G single nucleotide variant not provided [RCV002695923] Chr5:60891104 [GRCh38]
Chr5:60186931 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.628A>G (p.Arg210Gly) single nucleotide variant Inborn genetic diseases [RCV002949810] Chr5:60899717 [GRCh38]
Chr5:60195544 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.91G>A (p.Glu31Lys) single nucleotide variant Inborn genetic diseases [RCV002844248] Chr5:60928946 [GRCh38]
Chr5:60224773 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.786_789del (p.Gly264fs) deletion not provided [RCV002796576] Chr5:60898330..60898333 [GRCh38]
Chr5:60194157..60194160 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.350C>G (p.Ser117Ter) single nucleotide variant not provided [RCV002638874] Chr5:60918314 [GRCh38]
Chr5:60214141 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.979A>G (p.Ile327Val) single nucleotide variant not provided [RCV002638660] Chr5:60890951 [GRCh38]
Chr5:60186778 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1117G>T (p.Asp373Tyr) single nucleotide variant Inborn genetic diseases [RCV004973757]|not provided [RCV002948494] Chr5:60887445 [GRCh38]
Chr5:60183272 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.337G>A (p.Gly113Ser) single nucleotide variant Inborn genetic diseases [RCV002799051] Chr5:60918327 [GRCh38]
Chr5:60214154 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.174-7T>C single nucleotide variant not provided [RCV002952925] Chr5:60922162 [GRCh38]
Chr5:60217989 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.867dup (p.Asn290Ter) duplication not provided [RCV003037753] Chr5:60891062..60891063 [GRCh38]
Chr5:60186889..60186890 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.173+1119G>T single nucleotide variant not provided [RCV002620825] Chr5:60927745 [GRCh38]
Chr5:60223572 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.243T>C (p.Tyr81=) single nucleotide variant not provided [RCV002622098] Chr5:60922086 [GRCh38]
Chr5:60217913 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.21A>C (p.Ala7=) single nucleotide variant not provided [RCV002824658] Chr5:60944988 [GRCh38]
Chr5:60240815 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.949G>A (p.Ala317Thr) single nucleotide variant not provided [RCV003053555] Chr5:60890981 [GRCh38]
Chr5:60186808 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.586C>T (p.Pro196Ser) single nucleotide variant not provided [RCV002569700] Chr5:60902473 [GRCh38]
Chr5:60198300 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.577del (p.Ser193fs) deletion Inborn genetic diseases [RCV002757211] Chr5:60902482 [GRCh38]
Chr5:60198309 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.579C>T (p.Ser193=) single nucleotide variant not provided [RCV003037702] Chr5:60902480 [GRCh38]
Chr5:60198307 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.450T>A (p.Ser150=) single nucleotide variant not provided [RCV003021539] Chr5:60904823 [GRCh38]
Chr5:60200650 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.775C>T (p.His259Tyr) single nucleotide variant not provided [RCV002706690] Chr5:60898344 [GRCh38]
Chr5:60194171 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1033A>G (p.Asn345Asp) single nucleotide variant not provided [RCV002636866] Chr5:60890897 [GRCh38]
Chr5:60186724 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.354C>T (p.Ser118=) single nucleotide variant not provided [RCV003018614] Chr5:60918310 [GRCh38]
Chr5:60214137 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.558A>G (p.Arg186=) single nucleotide variant not provided [RCV002894340] Chr5:60902501 [GRCh38]
Chr5:60198328 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.540C>T (p.His180=) single nucleotide variant not provided [RCV002894943] Chr5:60903658 [GRCh38]
Chr5:60199485 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.290T>A (p.Val97Asp) single nucleotide variant not provided [RCV002701033] Chr5:60918374 [GRCh38]
Chr5:60214201 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.764G>A (p.Ser255Asn) single nucleotide variant Inborn genetic diseases [RCV003274081]|not provided [RCV002933331] Chr5:60898355 [GRCh38]
Chr5:60194182 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.933A>G (p.Pro311=) single nucleotide variant not provided [RCV002982537] Chr5:60890997 [GRCh38]
Chr5:60186824 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.384T>C (p.Asp128=) single nucleotide variant not provided [RCV002594268] Chr5:60918280 [GRCh38]
Chr5:60214107 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.594T>C (p.Tyr198=) single nucleotide variant not provided [RCV003082636] Chr5:60902465 [GRCh38]
Chr5:60198292 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.273C>A (p.Gly91=) single nucleotide variant not provided [RCV002872280] Chr5:60922056 [GRCh38]
Chr5:60217883 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1122G>C (p.Glu374Asp) single nucleotide variant not provided [RCV002640727] Chr5:60887440 [GRCh38]
Chr5:60183267 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1089A>G (p.Pro363=) single nucleotide variant not provided [RCV002790678] Chr5:60887473 [GRCh38]
Chr5:60183300 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.741A>G (p.Lys247=) single nucleotide variant not provided [RCV002919081] Chr5:60898378 [GRCh38]
Chr5:60194205 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.400-10dup duplication not provided [RCV002829467] Chr5:60904882..60904883 [GRCh38]
Chr5:60200709..60200710 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.174-12T>G single nucleotide variant not provided [RCV002721065] Chr5:60922167 [GRCh38]
Chr5:60217994 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.75G>A (p.Arg25=) single nucleotide variant not provided [RCV002580872] Chr5:60944934 [GRCh38]
Chr5:60240761 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1029G>A (p.Gln343=) single nucleotide variant not provided [RCV002577268] Chr5:60890901 [GRCh38]
Chr5:60186728 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-20_1123-18del deletion not provided [RCV003091549] Chr5:60874701..60874703 [GRCh38]
Chr5:60170528..60170530 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1055del (p.Gly352fs) deletion not provided [RCV002721066] Chr5:60887507 [GRCh38]
Chr5:60183334 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.803G>T (p.Arg268Leu) single nucleotide variant not provided [RCV003089639] Chr5:60898316 [GRCh38]
Chr5:60194143 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.448T>A (p.Ser150Thr) single nucleotide variant not provided [RCV003064149] Chr5:60904825 [GRCh38]
Chr5:60200652 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.10T>C (p.Phe4Leu) single nucleotide variant not provided [RCV002961946] Chr5:60944999 [GRCh38]
Chr5:60240826 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.49C>A (p.Arg17Ser) single nucleotide variant Inborn genetic diseases [RCV002673154] Chr5:60944960 [GRCh38]
Chr5:60240787 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.659C>G (p.Ser220Ter) single nucleotide variant not provided [RCV003061553] Chr5:60899686 [GRCh38]
Chr5:60195513 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.657A>G (p.Ala219=) single nucleotide variant not provided [RCV003086047] Chr5:60899688 [GRCh38]
Chr5:60195515 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.599A>G (p.Tyr200Cys) single nucleotide variant not provided [RCV002598595] Chr5:60902460 [GRCh38]
Chr5:60198287 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.550G>A (p.Gly184Ser) single nucleotide variant not provided [RCV002629395] Chr5:60903648 [GRCh38]
Chr5:60199475 [GRCh37]
Chr5:5q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000082.4(ERCC8):c.1071C>T (p.Asn357=) single nucleotide variant not provided [RCV002899194] Chr5:60887491 [GRCh38]
Chr5:60183318 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.165A>G (p.Glu55=) single nucleotide variant not provided [RCV002806936] Chr5:60928872 [GRCh38]
Chr5:60224699 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.407A>G (p.Asp136Gly) single nucleotide variant Inborn genetic diseases [RCV003087950]|not provided [RCV003087951] Chr5:60904866 [GRCh38]
Chr5:60200693 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.550+8T>A single nucleotide variant not provided [RCV003030654] Chr5:60903640 [GRCh38]
Chr5:60199467 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.587C>T (p.Pro196Leu) single nucleotide variant not provided [RCV003090892] Chr5:60902472 [GRCh38]
Chr5:60198299 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.211T>C (p.Tyr71His) single nucleotide variant not provided [RCV002631573] Chr5:60922118 [GRCh38]
Chr5:60217945 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.551-9T>G single nucleotide variant not provided [RCV002581532] Chr5:60902517 [GRCh38]
Chr5:60198344 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.40G>A (p.Asp14Asn) single nucleotide variant not provided [RCV003065788] Chr5:60944969 [GRCh38]
Chr5:60240796 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.753A>G (p.Leu251=) single nucleotide variant not provided [RCV003066326] Chr5:60898366 [GRCh38]
Chr5:60194193 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1053T>C (p.Ser351=) single nucleotide variant not provided [RCV002605641] Chr5:60887509 [GRCh38]
Chr5:60183336 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.789T>A (p.Val263=) single nucleotide variant not provided [RCV002585012] Chr5:60898330 [GRCh38]
Chr5:60194157 [GRCh37]
Chr5:5q12.1		 likely benign|uncertain significance
NM_000082.4(ERCC8):c.304G>T (p.Val102Leu) single nucleotide variant not provided [RCV002943938] Chr5:60918360 [GRCh38]
Chr5:60214187 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.399+19T>C single nucleotide variant not provided [RCV002633948] Chr5:60918246 [GRCh38]
Chr5:60214073 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.541A>G (p.Ile181Val) single nucleotide variant not provided [RCV003069771] Chr5:60903657 [GRCh38]
Chr5:60199484 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.991A>G (p.Lys331Glu) single nucleotide variant Inborn genetic diseases [RCV003215891] Chr5:60890939 [GRCh38]
Chr5:60186766 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.656C>T (p.Ala219Val) single nucleotide variant Inborn genetic diseases [RCV003354629] Chr5:60899689 [GRCh38]
Chr5:60195516 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.482-20A>C single nucleotide variant not provided [RCV003543378] Chr5:60903736 [GRCh38]
Chr5:60199563 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.45T>C (p.Pro15=) single nucleotide variant not provided [RCV003543696] Chr5:60944964 [GRCh38]
Chr5:60240791 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.482-18C>A single nucleotide variant not provided [RCV003872916] Chr5:60903734 [GRCh38]
Chr5:60199561 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4:c.[275+768_399+346del;399+347_399+2002inv;399+2003_399+2557delinsTACTTAAT] indel Cockayne syndrome type 1 [RCV003600464]   pathogenic
NM_000082.4(ERCC8):c.15G>A (p.Leu5=) single nucleotide variant not provided [RCV003577263] Chr5:60944994 [GRCh38]
Chr5:60240821 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-23_1123-18del deletion not provided [RCV003739432] Chr5:60874701..60874706 [GRCh38]
Chr5:60170528..60170533 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.77+15A>G single nucleotide variant not provided [RCV003692775] Chr5:60944917 [GRCh38]
Chr5:60240744 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1050T>C (p.Tyr350=) single nucleotide variant not provided [RCV003829842] Chr5:60887512 [GRCh38]
Chr5:60183339 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.960A>T (p.Thr320=) single nucleotide variant not provided [RCV003544923] Chr5:60890970 [GRCh38]
Chr5:60186797 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.544C>T (p.Leu182=) single nucleotide variant not provided [RCV003688168] Chr5:60903654 [GRCh38]
Chr5:60199481 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.798T>C (p.Asp266=) single nucleotide variant not provided [RCV003573721] Chr5:60898321 [GRCh38]
Chr5:60194148 [GRCh37]
Chr5:5q12.1		 likely benign
Single allele deletion Cockayne syndrome type 1 [RCV003600463] Chr5:59945691..60204587 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.618-16A>G single nucleotide variant not provided [RCV003572465] Chr5:60899743 [GRCh38]
Chr5:60195570 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.618-13T>G single nucleotide variant not provided [RCV003659998] Chr5:60899740 [GRCh38]
Chr5:60195567 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.399+7A>G single nucleotide variant not provided [RCV003713969] Chr5:60918258 [GRCh38]
Chr5:60214085 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.6G>A (p.Leu2=) single nucleotide variant not provided [RCV003659917] Chr5:60945003 [GRCh38]
Chr5:60240830 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.482-12_482-11del deletion not provided [RCV003547396] Chr5:60903727..60903728 [GRCh38]
Chr5:60199554..60199555 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.852T>C (p.Tyr284=) single nucleotide variant not provided [RCV003578650] Chr5:60891078 [GRCh38]
Chr5:60186905 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.336T>A (p.Thr112=) single nucleotide variant not provided [RCV003712863] Chr5:60918328 [GRCh38]
Chr5:60214155 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.24C>A (p.Arg8=) single nucleotide variant not provided [RCV003688061] Chr5:60944985 [GRCh38]
Chr5:60240812 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.275+1G>A single nucleotide variant Cockayne syndrome [RCV003493354] Chr5:60922053 [GRCh38]
Chr5:60217880 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1003A>T (p.Lys335Ter) single nucleotide variant not provided [RCV003573007] Chr5:60890927 [GRCh38]
Chr5:60186754 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1042-14C>T single nucleotide variant not provided [RCV003739315] Chr5:60887534 [GRCh38]
Chr5:60183361 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.275+10T>C single nucleotide variant not provided [RCV003573019] Chr5:60922044 [GRCh38]
Chr5:60217871 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-9T>A single nucleotide variant not provided [RCV003573766] Chr5:60874692 [GRCh38]
Chr5:60170519 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.174-5A>G single nucleotide variant not provided [RCV003714612] Chr5:60922160 [GRCh38]
Chr5:60217987 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1042-15C>A single nucleotide variant not provided [RCV003716472] Chr5:60887535 [GRCh38]
Chr5:60183362 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.569dup (p.Leu190fs) duplication not provided [RCV003881167] Chr5:60902489..60902490 [GRCh38]
Chr5:60198316..60198317 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.719-16A>G single nucleotide variant not provided [RCV003660709] Chr5:60898416 [GRCh38]
Chr5:60194243 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.551-20del deletion not provided [RCV003876977] Chr5:60902528 [GRCh38]
Chr5:60198355 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.894T>C (p.Thr298=) single nucleotide variant not provided [RCV003688524] Chr5:60891036 [GRCh38]
Chr5:60186863 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.77+14T>A single nucleotide variant not provided [RCV003716223] Chr5:60944918 [GRCh38]
Chr5:60240745 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-6T>C single nucleotide variant not provided [RCV003663206] Chr5:60874689 [GRCh38]
Chr5:60170516 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.129C>G (p.Gly43=) single nucleotide variant not provided [RCV003693374] Chr5:60928908 [GRCh38]
Chr5:60224735 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.532T>A (p.Cys178Ser) single nucleotide variant not provided [RCV003878969] Chr5:60903666 [GRCh38]
Chr5:60199493 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.777C>T (p.His259=) single nucleotide variant not provided [RCV003693366] Chr5:60898342 [GRCh38]
Chr5:60194169 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-12G>T single nucleotide variant not provided [RCV003665779] Chr5:60918400 [GRCh38]
Chr5:60214227 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-19T>C single nucleotide variant not provided [RCV003699662] Chr5:60918407 [GRCh38]
Chr5:60214234 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.718+12C>A single nucleotide variant not provided [RCV003850490] Chr5:60899615 [GRCh38]
Chr5:60195442 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.573A>G (p.Ala191=) single nucleotide variant not provided [RCV003580995] Chr5:60902486 [GRCh38]
Chr5:60198313 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-17A>G single nucleotide variant not provided [RCV003561851] Chr5:60874700 [GRCh38]
Chr5:60170527 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1041+15G>A single nucleotide variant not provided [RCV003816946] Chr5:60890874 [GRCh38]
Chr5:60186701 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.618-20T>C single nucleotide variant not provided [RCV003726703] Chr5:60899747 [GRCh38]
Chr5:60195574 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.663A>T (p.Gly221=) single nucleotide variant not provided [RCV003717410] Chr5:60899682 [GRCh38]
Chr5:60195509 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.243T>G (p.Tyr81Ter) single nucleotide variant not provided [RCV003723497] Chr5:60922086 [GRCh38]
Chr5:60217913 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.617+16T>C single nucleotide variant not provided [RCV003561937] Chr5:60902426 [GRCh38]
Chr5:60198253 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.918A>G (p.Glu306=) single nucleotide variant not provided [RCV003670455] Chr5:60891012 [GRCh38]
Chr5:60186839 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.719-17T>C single nucleotide variant not provided [RCV003550202] Chr5:60898417 [GRCh38]
Chr5:60194244 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1041+11T>C single nucleotide variant not provided [RCV003665782] Chr5:60890878 [GRCh38]
Chr5:60186705 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+14T>C single nucleotide variant not provided [RCV003850814] Chr5:60904778 [GRCh38]
Chr5:60200605 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.719-4G>A single nucleotide variant not provided [RCV003558322] Chr5:60898404 [GRCh38]
Chr5:60194231 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.378del (p.Trp127fs) deletion Cockayne syndrome type 1 [RCV005036918]|not provided [RCV003667732] Chr5:60918286 [GRCh38]
Chr5:60214113 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.768T>C (p.Asp256=) single nucleotide variant not provided [RCV003560499] Chr5:60898351 [GRCh38]
Chr5:60194178 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.843+7G>T single nucleotide variant not provided [RCV003817545] Chr5:60898269 [GRCh38]
Chr5:60194096 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.77+18T>G single nucleotide variant not provided [RCV003672690] Chr5:60944914 [GRCh38]
Chr5:60240741 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-15_1123-14del deletion not provided [RCV003672105] Chr5:60874697..60874698 [GRCh38]
Chr5:60170524..60170525 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.173+2T>A single nucleotide variant not provided [RCV003560185] Chr5:60928862 [GRCh38]
Chr5:60224689 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.240T>C (p.Ser80=) single nucleotide variant not provided [RCV003672073] Chr5:60922089 [GRCh38]
Chr5:60217916 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.173+12A>C single nucleotide variant not provided [RCV003699221] Chr5:60928852 [GRCh38]
Chr5:60224679 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.173+20A>G single nucleotide variant not provided [RCV003549420] Chr5:60928844 [GRCh38]
Chr5:60224671 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.78-16C>T single nucleotide variant not provided [RCV003724126] Chr5:60928975 [GRCh38]
Chr5:60224802 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.111T>C (p.Asp37=) single nucleotide variant not provided [RCV003560459] Chr5:60928926 [GRCh38]
Chr5:60224753 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.551-5dup duplication not provided [RCV003580687] Chr5:60902512..60902513 [GRCh38]
Chr5:60198339..60198340 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1116T>C (p.Asp372=) single nucleotide variant not provided [RCV003731287] Chr5:60887446 [GRCh38]
Chr5:60183273 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.482-4A>G single nucleotide variant not provided [RCV003565035] Chr5:60903720 [GRCh38]
Chr5:60199547 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.77+10A>G single nucleotide variant not provided [RCV003679241] Chr5:60944922 [GRCh38]
Chr5:60240749 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.303T>C (p.Ser101=) single nucleotide variant not provided [RCV003681019] Chr5:60918361 [GRCh38]
Chr5:60214188 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-15del deletion not provided [RCV003863991] Chr5:60874698 [GRCh38]
Chr5:60170525 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1086T>G (p.Val362=) single nucleotide variant not provided [RCV003730834] Chr5:60887476 [GRCh38]
Chr5:60183303 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1041+12dup duplication not provided [RCV003732352] Chr5:60890876..60890877 [GRCh38]
Chr5:60186703..60186704 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1122+10_1122+12del microsatellite not provided [RCV003677832] Chr5:60887428..60887430 [GRCh38]
Chr5:60183255..60183257 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.831A>G (p.Gly277=) single nucleotide variant not provided [RCV003564167] Chr5:60898288 [GRCh38]
Chr5:60194115 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.718+18A>C single nucleotide variant not provided [RCV003709949] Chr5:60899609 [GRCh38]
Chr5:60195436 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-14T>C single nucleotide variant not provided [RCV003865545] Chr5:60918402 [GRCh38]
Chr5:60214229 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.397del (p.Gln133fs) deletion not provided [RCV003552518] Chr5:60918267 [GRCh38]
Chr5:60214094 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.399+16C>T single nucleotide variant not provided [RCV003824288] Chr5:60918249 [GRCh38]
Chr5:60214076 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.927T>C (p.Phe309=) single nucleotide variant not provided [RCV003711647] Chr5:60891003 [GRCh38]
Chr5:60186830 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+18T>G single nucleotide variant not provided [RCV003678620] Chr5:60904774 [GRCh38]
Chr5:60200601 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.585T>G (p.Ser195=) single nucleotide variant not provided [RCV003737874] Chr5:60902474 [GRCh38]
Chr5:60198301 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.467_468dup (p.Cys157fs) duplication Cockayne syndrome type 1 [RCV005038562]|not provided [RCV003842818] Chr5:60904804..60904805 [GRCh38]
Chr5:60200631..60200632 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.300C>T (p.Tyr100=) single nucleotide variant not provided [RCV003718674] Chr5:60918364 [GRCh38]
Chr5:60214191 [GRCh37]
Chr5:5q12.1		 likely benign
GRCh37/hg19 5q12.1(chr5:60111731-60809784)x3 copy number gain not specified [RCV003986563] Chr5:60111731..60809784 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.173+1119G>A single nucleotide variant not provided [RCV003729320] Chr5:60927745 [GRCh38]
Chr5:60223572 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.249A>C (p.Thr83=) single nucleotide variant not provided [RCV003677162] Chr5:60922080 [GRCh38]
Chr5:60217907 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+20del deletion not provided [RCV003555763] Chr5:60904772 [GRCh38]
Chr5:60200599 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.547C>T (p.Gln183Ter) single nucleotide variant Cockayne syndrome type 1 [RCV005040578]|not provided [RCV003859854] Chr5:60903651 [GRCh38]
Chr5:60199478 [GRCh37]
Chr5:5q12.1		 pathogenic|likely pathogenic
NM_000082.4(ERCC8):c.48T>A (p.Leu16=) single nucleotide variant not provided [RCV003680830] Chr5:60944961 [GRCh38]
Chr5:60240788 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.78-8T>A single nucleotide variant not provided [RCV003870488] Chr5:60928967 [GRCh38]
Chr5:60224794 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1041+13C>T single nucleotide variant not provided [RCV003867694] Chr5:60890876 [GRCh38]
Chr5:60186703 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.78-14dup duplication not provided [RCV003722126] Chr5:60928972..60928973 [GRCh38]
Chr5:60224799..60224800 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.1042-16G>T single nucleotide variant not provided [RCV003870825] Chr5:60887536 [GRCh38]
Chr5:60183363 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.603C>A (p.Ile201=) single nucleotide variant not provided [RCV003541900] Chr5:60902456 [GRCh38]
Chr5:60198283 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.482-16G>A single nucleotide variant not provided [RCV003562809] Chr5:60903732 [GRCh38]
Chr5:60199559 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.703C>T (p.Gln235Ter) single nucleotide variant not provided [RCV003564174] Chr5:60899642 [GRCh38]
Chr5:60195469 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.18C>A (p.Ser6=) single nucleotide variant not provided [RCV003820256] Chr5:60944991 [GRCh38]
Chr5:60240818 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-21_1123-18del deletion not provided [RCV003860456] Chr5:60874701..60874704 [GRCh38]
Chr5:60170528..60170531 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.844-15A>G single nucleotide variant not provided [RCV003682498] Chr5:60891101 [GRCh38]
Chr5:60186928 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.153T>A (p.Ile51=) single nucleotide variant not provided [RCV003681147] Chr5:60928884 [GRCh38]
Chr5:60224711 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.507A>G (p.Gln169=) single nucleotide variant not provided [RCV003848589] Chr5:60903691 [GRCh38]
Chr5:60199518 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.718+13G>A single nucleotide variant not provided [RCV003734693] Chr5:60899614 [GRCh38]
Chr5:60195441 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-17A>T single nucleotide variant not provided [RCV003863992] Chr5:60874700 [GRCh38]
Chr5:60170527 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.173+18G>C single nucleotide variant not provided [RCV003706206] Chr5:60928846 [GRCh38]
Chr5:60224673 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.720A>C (p.Ala240=) single nucleotide variant not provided [RCV003670701] Chr5:60898399 [GRCh38]
Chr5:60194226 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.77+17T>C single nucleotide variant not provided [RCV003562453] Chr5:60944915 [GRCh38]
Chr5:60240742 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.123C>A (p.Ile41=) single nucleotide variant not provided [RCV003564833] Chr5:60928914 [GRCh38]
Chr5:60224741 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-17T>G single nucleotide variant not provided [RCV003566527] Chr5:60918405 [GRCh38]
Chr5:60214232 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.684A>G (p.Gln228=) single nucleotide variant not provided [RCV003734180] Chr5:60899661 [GRCh38]
Chr5:60195488 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1041+13C>G single nucleotide variant not provided [RCV003707824] Chr5:60890876 [GRCh38]
Chr5:60186703 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.481+16C>A single nucleotide variant not provided [RCV003853995] Chr5:60904776 [GRCh38]
Chr5:60200603 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.718+12C>T single nucleotide variant not provided [RCV003733358] Chr5:60899615 [GRCh38]
Chr5:60195442 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.276-15A>G single nucleotide variant not provided [RCV003565376] Chr5:60918403 [GRCh38]
Chr5:60214230 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.315A>G (p.Val105=) single nucleotide variant not provided [RCV003562919] Chr5:60918349 [GRCh38]
Chr5:60214176 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.78-14del deletion not provided [RCV003709786] Chr5:60928973 [GRCh38]
Chr5:60224800 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.550+26A>C single nucleotide variant ERCC8-related disorder [RCV003904439] Chr5:60903622 [GRCh38]
Chr5:60199449 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.683A>C (p.Gln228Pro) single nucleotide variant Inborn genetic diseases [RCV004380557] Chr5:60899662 [GRCh38]
Chr5:60195489 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.550+2T>C single nucleotide variant Cockayne syndrome type 1 [RCV004566559] Chr5:60903646 [GRCh38]
Chr5:60199473 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NC_000005.9:g.(?_60170442)_(60394879_?)del deletion not provided [RCV004580533] Chr5:60170442..60394879 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60223572)_(60241229_?)del deletion not provided [RCV004580536] Chr5:60223572..60241229 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60217861)_(60394879_?)del deletion not provided [RCV004580537] Chr5:60217861..60394879 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170442)_(60186933_?)del deletion not provided [RCV004580538] Chr5:60170442..60186933 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170432)_(60183357_?)del deletion not provided [RCV004580539] Chr5:60170432..60183357 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60183247)_(60224806_?)del deletion not provided [RCV004580540] Chr5:60183247..60224806 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60214072)_(60214235_?)dup duplication not provided [RCV004580542] Chr5:60214072..60214235 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NC_000005.9:g.(?_60186696)_(60241229_?)del deletion not provided [RCV004580535] Chr5:60186696..60241229 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.424G>C (p.Glu142Gln) single nucleotide variant Inborn genetic diseases [RCV004617944] Chr5:60904849 [GRCh38]
Chr5:60200676 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.807G>T (p.Met269Ile) single nucleotide variant Inborn genetic diseases [RCV004617945] Chr5:60898312 [GRCh38]
Chr5:60194139 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.881G>A (p.Gly294Glu) single nucleotide variant Inborn genetic diseases [RCV004617943] Chr5:60891049 [GRCh38]
Chr5:60186876 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.64G>A (p.Glu22Lys) single nucleotide variant Inborn genetic diseases [RCV004617946] Chr5:60944945 [GRCh38]
Chr5:60240772 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.565A>T (p.Ile189Leu) single nucleotide variant not provided [RCV004792892] Chr5:60902494 [GRCh38]
Chr5:60198321 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.857A>C (p.Lys286Thr) single nucleotide variant Inborn genetic diseases [RCV004982227] Chr5:60891073 [GRCh38]
Chr5:60186900 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1021G>A (p.Val341Ile) single nucleotide variant Inborn genetic diseases [RCV004982230] Chr5:60890909 [GRCh38]
Chr5:60186736 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.533G>C (p.Cys178Ser) single nucleotide variant Inborn genetic diseases [RCV004982226] Chr5:60903665 [GRCh38]
Chr5:60199492 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.898T>C (p.Ser300Pro) single nucleotide variant Inborn genetic diseases [RCV004982232] Chr5:60891032 [GRCh38]
Chr5:60186859 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.197G>A (p.Gly66Asp) single nucleotide variant Inborn genetic diseases [RCV004982228] Chr5:60922132 [GRCh38]
Chr5:60217959 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.373A>C (p.Lys125Gln) single nucleotide variant Inborn genetic diseases [RCV004982229] Chr5:60918291 [GRCh38]
Chr5:60214118 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.109G>A (p.Asp37Asn) single nucleotide variant Inborn genetic diseases [RCV004982231] Chr5:60928928 [GRCh38]
Chr5:60224755 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.718+15A>C single nucleotide variant not provided [RCV005196245] Chr5:60899612 [GRCh38]
Chr5:60195439 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.2T>G (p.Met1Arg) single nucleotide variant Cockayne syndrome type 1 [RCV005037646] Chr5:60945007 [GRCh38]
Chr5:60240834 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.481+16_481+18del deletion not provided [RCV005147621] Chr5:60904774..60904776 [GRCh38]
Chr5:60200601..60200603 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.482-1G>T single nucleotide variant Cockayne syndrome type 1 [RCV005037642] Chr5:60903717 [GRCh38]
Chr5:60199544 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.370_371del (p.Leu124fs) microsatellite Cockayne syndrome type 1 [RCV005037643] Chr5:60918293..60918294 [GRCh38]
Chr5:60214120..60214121 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.68C>G (p.Ser23Ter) single nucleotide variant Cockayne syndrome type 1 [RCV005037644] Chr5:60944941 [GRCh38]
Chr5:60240768 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.9del (p.Leu5fs) deletion Cockayne syndrome type 1 [RCV005037645] Chr5:60945000 [GRCh38]
Chr5:60240827 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.1041G>A (p.Gln347=) single nucleotide variant Cockayne syndrome type 1 [RCV005055408] Chr5:60890889 [GRCh38]
Chr5:60186716 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.1101del (p.Glu367fs) deletion Cockayne syndrome type 1 [RCV005037638] Chr5:60887461 [GRCh38]
Chr5:60183288 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.968C>G (p.Ser323Ter) single nucleotide variant Cockayne syndrome type 1 [RCV005037639] Chr5:60890962 [GRCh38]
Chr5:60186789 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.718+2T>C single nucleotide variant Cockayne syndrome type 1 [RCV005037640] Chr5:60899625 [GRCh38]
Chr5:60195452 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.668del (p.Cys222_Leu223insTer) deletion Cockayne syndrome type 1 [RCV005037641] Chr5:60899677 [GRCh38]
Chr5:60195504 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.514G>A (p.Asp172Asn) single nucleotide variant not provided [RCV005065556] Chr5:60903684 [GRCh38]
Chr5:60199511 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.173+15C>G single nucleotide variant not provided [RCV005086647] Chr5:60928849 [GRCh38]
Chr5:60224676 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.608C>T (p.Ala203Val) single nucleotide variant not provided [RCV005193463] Chr5:60902451 [GRCh38]
Chr5:60198278 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.464del (p.Lys155fs) deletion not provided [RCV005187260] Chr5:60904809 [GRCh38]
Chr5:60200636 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.803G>A (p.Arg268Gln) single nucleotide variant not provided [RCV005187369] Chr5:60898316 [GRCh38]
Chr5:60194143 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.840_841del (p.Leu281fs) microsatellite not provided [RCV005193268] Chr5:60898278..60898279 [GRCh38]
Chr5:60194105..60194106 [GRCh37]
Chr5:5q12.1		 pathogenic
NM_000082.4(ERCC8):c.399+10T>C single nucleotide variant not provided [RCV005121644] Chr5:60918255 [GRCh38]
Chr5:60214082 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.617+14dup duplication not provided [RCV005120724] Chr5:60902427..60902428 [GRCh38]
Chr5:60198254..60198255 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.621T>C (p.Ala207=) single nucleotide variant not provided [RCV005120953] Chr5:60899724 [GRCh38]
Chr5:60195551 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.1123-3del deletion not provided [RCV005187491] Chr5:60874686 [GRCh38]
Chr5:60170513 [GRCh37]
Chr5:5q12.1		 benign
NM_000082.4(ERCC8):c.30G>C (p.Thr10=) single nucleotide variant not provided [RCV005116322] Chr5:60944979 [GRCh38]
Chr5:60240806 [GRCh37]
Chr5:5q12.1		 likely benign
NM_000082.4(ERCC8):c.719-1G>A single nucleotide variant not provided [RCV005179220] Chr5:60898401 [GRCh38]
Chr5:60194228 [GRCh37]
Chr5:5q12.1		 likely pathogenic
NM_000082.4(ERCC8):c.214G>C (p.Asp72His) single nucleotide variant not provided [RCV005073536] Chr5:60922115 [GRCh38]
Chr5:60217942 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.682C>G (p.Gln228Glu) single nucleotide variant Inborn genetic diseases [RCV005332853] Chr5:60899663 [GRCh38]
Chr5:60195490 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.997C>G (p.His333Asp) single nucleotide variant Inborn genetic diseases [RCV005332856] Chr5:60890933 [GRCh38]
Chr5:60186760 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.160G>A (p.Val54Ile) single nucleotide variant not provided [RCV005256392] Chr5:60928877 [GRCh38]
Chr5:60224704 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.1163C>G (p.Ala388Gly) single nucleotide variant Inborn genetic diseases [RCV005332854] Chr5:60874643 [GRCh38]
Chr5:60170470 [GRCh37]
Chr5:5q12.1		 uncertain significance
NM_000082.4(ERCC8):c.550+22C>T single nucleotide variant Cockayne syndrome type 1 [RCV005398108] Chr5:60903626 [GRCh38]
Chr5:60199453 [GRCh37]
Chr5:5q12.1		 uncertain significance
GRCh37/hg19 5q12.1(chr5:59993268-60171937)x1 copy number loss not provided [RCV005430877] Chr5:59993268..60171937 [GRCh37]
Chr5:5q12.1		 pathogenic
GRCh37/hg19 5q12.1(chr5:59989844-60171391)x1 copy number loss not provided [RCV005430872] Chr5:59989844..60171391 [GRCh37]
Chr5:5q12.1		 pathogenic
GRCh37/hg19 5q12.1(chr5:59989844-60171937)x1 copy number loss not provided [RCV005430874] Chr5:59989844..60171937 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60170442)_(60369061_?)del deletion not provided [RCV004580674] Chr5:60170442..60369061 [GRCh37]
Chr5:5q12.1		 pathogenic
NC_000005.9:g.(?_60240739)_(60241229_?)del deletion not provided [RCV004580673] Chr5:60240739..60241229 [GRCh37]
Chr5:5q12.1		 pathogenic
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR521-1hsa-miR-521Mirtarbaseexternal_infoWestern blotFunctional MTI18668526

Predicted Target Of
Summary Value
Count of predictions:1609
Count of miRNA genes:628
Interacting mature miRNAs:696
Transcripts:ENST00000265038, ENST00000381118, ENST00000426742, ENST00000439176, ENST00000462279, ENST00000477893, ENST00000484330, ENST00000495985, ENST00000497892, ENST00000543101
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597095302GWAS1191376_Hschizophrenia QTL GWAS1191376 (human)0.000001schizophrenia56087768860877689Human
597044946GWAS1141020_Hlifestyle measurement QTL GWAS1141020 (human)3e-15lifestyle measurement56090858160908583Human
597042401GWAS1138475_Hlifestyle measurement QTL GWAS1138475 (human)0.000005lifestyle measurement56090858160908583Human
597152160GWAS1248234_HAlzheimer disease, educational attainment QTL GWAS1248234 (human)7e-12Alzheimer disease, educational attainment56093841560938416Human
597108811GWAS1204885_Hsmoking initiation QTL GWAS1204885 (human)2e-08behavior trait (VT:0010442)56087206160872062Human
597225477GWAS1321551_Hsmoking status measurement QTL GWAS1321551 (human)4e-17smoking status measurement56088300660883007Human

Markers in Region
RH92349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,215,843 - 60,215,988UniSTSGRCh37
Build 36560,251,600 - 60,251,745RGDNCBI36
Celera557,156,907 - 57,157,052RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,173,954 - 57,174,099UniSTS
GeneMap99-GB4 RH Map5299.05UniSTS
G42997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,170,165 - 60,170,366UniSTSGRCh37
Build 36560,205,922 - 60,206,123RGDNCBI36
Celera557,111,234 - 57,111,435RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,128,294 - 57,128,495UniSTS
TNG Radiation Hybrid Map527010.0UniSTS
PMC166200P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,241,082 - 60,241,283UniSTSGRCh37
Build 36560,276,839 - 60,277,040RGDNCBI36
Celera557,182,146 - 57,182,347RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,199,193 - 57,199,394UniSTS
CKN1__4579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,169,579 - 60,170,370UniSTSGRCh37
Build 36560,205,336 - 60,206,127RGDNCBI36
Celera557,110,648 - 57,111,439RGD
HuRef557,127,708 - 57,128,499UniSTS
STS-N49276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,227,431 - 60,227,709UniSTSGRCh37
Build 36560,263,188 - 60,263,466RGDNCBI36
Celera557,168,502 - 57,168,780RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,185,549 - 57,185,827UniSTS
GeneMap99-GB4 RH Map5299.91UniSTS
G16887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,191,634 - 60,191,789UniSTSGRCh37
Build 36560,227,391 - 60,227,546RGDNCBI36
Celera557,132,709 - 57,132,864RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,149,762 - 57,149,917UniSTS
RH79137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,169,779 - 60,169,911UniSTSGRCh37
Build 36560,205,536 - 60,205,668RGDNCBI36
Celera557,110,848 - 57,110,980RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,127,908 - 57,128,040UniSTS
GeneMap99-GB4 RH Map5297.79UniSTS
RH66055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,187,663 - 60,187,812UniSTSGRCh37
Build 36560,223,420 - 60,223,569RGDNCBI36
Celera557,128,740 - 57,128,889RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,145,793 - 57,145,942UniSTS
GeneMap99-GB4 RH Map5297.56UniSTS
RH18023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,169,741 - 60,169,874UniSTSGRCh37
Build 36560,205,498 - 60,205,631RGDNCBI36
Celera557,110,810 - 57,110,943RGD
Cytogenetic Map5q12.1UniSTS
HuRef557,127,870 - 57,128,003UniSTS
GeneMap99-GB4 RH Map5296.64UniSTS
UniSTS:484387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,188,487 - 60,188,984UniSTSGRCh37
Build 36560,224,244 - 60,224,741RGDNCBI36
Celera557,129,564 - 57,130,061RGD
HuRef557,146,617 - 57,147,114UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
ERCC8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37560,199,517 - 60,200,666UniSTSGRCh37
Celera557,140,592 - 57,141,735UniSTS
HuRef557,157,645 - 57,158,782UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1949 465 2269 7304 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001007234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL691658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY213194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA169067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U28413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265038   ⟹   ENSP00000265038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,885 - 60,945,064 (-)Ensembl
Ensembl Acc Id: ENST00000381118   ⟹   ENSP00000370510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,831 - 60,945,051 (-)Ensembl
Ensembl Acc Id: ENST00000439176   ⟹   ENSP00000408344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,860 - 60,945,070 (-)Ensembl
Ensembl Acc Id: ENST00000462279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,834 - 60,907,523 (-)Ensembl
Ensembl Acc Id: ENST00000477893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,917,963 - 60,945,059 (-)Ensembl
Ensembl Acc Id: ENST00000484330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,898,324 - 60,918,613 (-)Ensembl
Ensembl Acc Id: ENST00000495985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,898,314 - 60,918,559 (-)Ensembl
Ensembl Acc Id: ENST00000497892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,903,360 - 60,945,062 (-)Ensembl
Ensembl Acc Id: ENST00000643034   ⟹   ENSP00000496080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,833 - 60,945,064 (-)Ensembl
Ensembl Acc Id: ENST00000643708   ⟹   ENSP00000494199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,879 - 60,945,051 (-)Ensembl
Ensembl Acc Id: ENST00000647431   ⟹   ENSP00000494726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,835 - 60,945,008 (-)Ensembl
Ensembl Acc Id: ENST00000647486   ⟹   ENSP00000494466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,890,911 - 60,945,008 (-)Ensembl
Ensembl Acc Id: ENST00000675042   ⟹   ENSP00000502082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,822 - 60,945,073 (-)Ensembl
Ensembl Acc Id: ENST00000675229   ⟹   ENSP00000502154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,903,360 - 60,945,051 (-)Ensembl
Ensembl Acc Id: ENST00000675378   ⟹   ENSP00000502535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,832 - 60,945,070 (-)Ensembl
Ensembl Acc Id: ENST00000675452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,874,037 - 60,945,049 (-)Ensembl
Ensembl Acc Id: ENST00000675920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,903,577 - 60,932,304 (-)Ensembl
Ensembl Acc Id: ENST00000676185   ⟹   ENSP00000501614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,866,454 - 60,945,070 (-)Ensembl
Ensembl Acc Id: ENST00000682041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,925,232 - 60,945,058 (-)Ensembl
Ensembl Acc Id: ENST00000682217   ⟹   ENSP00000507570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,871,998 - 60,945,070 (-)Ensembl
Ensembl Acc Id: ENST00000682246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,891,688 - 60,945,064 (-)Ensembl
Ensembl Acc Id: ENST00000682375   ⟹   ENSP00000507551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,846 - 60,945,064 (-)Ensembl
Ensembl Acc Id: ENST00000682380
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,916,869 - 60,945,064 (-)Ensembl
Ensembl Acc Id: ENST00000682418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,909,340 - 60,945,064 (-)Ensembl
Ensembl Acc Id: ENST00000682750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,916,759 - 60,922,272 (-)Ensembl
Ensembl Acc Id: ENST00000682874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,926,921 - 60,945,058 (-)Ensembl
Ensembl Acc Id: ENST00000683052   ⟹   ENSP00000507072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,870 - 60,945,008 (-)Ensembl
Ensembl Acc Id: ENST00000683199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,890,704 - 60,945,030 (-)Ensembl
Ensembl Acc Id: ENST00000683216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,873,851 - 60,905,537 (-)Ensembl
Ensembl Acc Id: ENST00000683460   ⟹   ENSP00000507820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,874,068 - 60,945,064 (-)Ensembl
Ensembl Acc Id: ENST00000683688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,885,872 - 60,890,307 (-)Ensembl
Ensembl Acc Id: ENST00000684394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,896,021 - 60,945,063 (-)Ensembl
Ensembl Acc Id: ENST00000684453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,890,624 - 60,945,058 (-)Ensembl
Ensembl Acc Id: ENST00000684621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl560,886,154 - 60,945,064 (-)Ensembl
RefSeq Acc Id: NM_000082   ⟹   NP_000073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,866,454 - 60,945,070 (-)NCBI
GRCh37560,169,659 - 60,240,905 (-)ENTREZGENE
GRCh37560,169,659 - 60,240,905 (-)NCBI
Build 36560,205,415 - 60,276,648 (-)NCBI Archive
HuRef557,127,788 - 57,199,016 (-)ENTREZGENE
CHM1_1560,169,330 - 60,240,587 (-)NCBI
T2T-CHM13v2.0561,682,823 - 61,761,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001007233   ⟹   NP_001007234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,866,454 - 60,945,070 (-)NCBI
Build 36560,205,415 - 60,276,648 (-)NCBI Archive
CHM1_1560,169,330 - 60,240,587 (-)NCBI
T2T-CHM13v2.0561,682,823 - 61,761,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001007234   ⟹   NP_001007235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,903,360 - 60,945,070 (-)NCBI
Build 36560,234,942 - 60,276,648 (-)NCBI Archive
CHM1_1560,198,864 - 60,240,587 (-)NCBI
T2T-CHM13v2.0561,719,743 - 61,761,461 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290285   ⟹   NP_001277214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,866,454 - 60,945,070 (-)NCBI
CHM1_1560,169,330 - 60,240,587 (-)NCBI
T2T-CHM13v2.0561,682,823 - 61,761,461 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000073   ⟸   NM_000082
- Peptide Label: isoform 1
- UniProtKB: Q96GB9 (UniProtKB/Swiss-Prot),   Q6FHX5 (UniProtKB/Swiss-Prot),   Q13216 (UniProtKB/Swiss-Prot),   B2RB64 (UniProtKB/Swiss-Prot),   A8K3W1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001007234   ⟸   NM_001007233
- Peptide Label: isoform 2
- UniProtKB: B3KPW7 (UniProtKB/TrEMBL),   B4E383 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001007235   ⟸   NM_001007234
- Peptide Label: isoform 3
- UniProtKB: A0A0S2Z3L1 (UniProtKB/TrEMBL),   A0A2R8Y5I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001277214   ⟸   NM_001290285
- Peptide Label: isoform 4
- UniProtKB: B4DGZ9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000408344   ⟸   ENST00000439176
Ensembl Acc Id: ENSP00000496080   ⟸   ENST00000643034
Ensembl Acc Id: ENSP00000494199   ⟸   ENST00000643708
Ensembl Acc Id: ENSP00000370510   ⟸   ENST00000381118
Ensembl Acc Id: ENSP00000265038   ⟸   ENST00000265038
Ensembl Acc Id: ENSP00000494726   ⟸   ENST00000647431
Ensembl Acc Id: ENSP00000494466   ⟸   ENST00000647486
Ensembl Acc Id: ENSP00000502535   ⟸   ENST00000675378
Ensembl Acc Id: ENSP00000502154   ⟸   ENST00000675229
Ensembl Acc Id: ENSP00000502082   ⟸   ENST00000675042
Ensembl Acc Id: ENSP00000501614   ⟸   ENST00000676185
Ensembl Acc Id: ENSP00000507570   ⟸   ENST00000682217
Ensembl Acc Id: ENSP00000507820   ⟸   ENST00000683460
Ensembl Acc Id: ENSP00000507551   ⟸   ENST00000682375
Ensembl Acc Id: ENSP00000507072   ⟸   ENST00000683052

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13216-F1-model_v2 AlphaFold Q13216 1-396 view protein structure

Promoters
RGD ID:6803195
Promoter ID:HG_KWN:50207
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000265038,   NM_174889,   OTTHUMT00000332608,   OTTHUMT00000332609,   UC003JSL.2,   UC003JSN.2,   UC003JSO.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36560,276,601 - 60,277,462 (-)MPROMDB
RGD ID:6852938
Promoter ID:EP74288
Type:multiple initiation site
Name:HS_CKN1
Description:Cockayne syndrome 1 (classical).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36560,276,635 - 60,276,695EPD
RGD ID:6869686
Promoter ID:EPDNEW_H8008
Type:initiation region
Name:ERCC8_1
Description:ERCC excision repair 8, CSA ubiquitin ligase complex subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38560,945,064 - 60,945,124EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3439 AgrOrtholog
COSMIC ERCC8 COSMIC
Ensembl Genes ENSG00000049167 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000647486.2 UniProtKB/Swiss-Prot
  ENST00000675042 ENTREZGENE
  ENST00000675229 ENTREZGENE
  ENST00000675229.1 UniProtKB/Swiss-Prot
  ENST00000676185 ENTREZGENE
  ENST00000676185.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000049167 GTEx
HGNC ID HGNC:3439 ENTREZGENE
Human Proteome Map ERCC8 Human Proteome Map
InterPro G-protein_beta_WD-40_rep UniProtKB/Swiss-Prot
  Rad28/ERCC8/Ckn1/ATCSA-1 UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_CS UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:1161 UniProtKB/Swiss-Prot
NCBI Gene ERCC8 ENTREZGENE
OMIM 609412 OMIM
PANTHER DNA EXCISION REPAIR PROTEIN ERCC-8 UniProtKB/Swiss-Prot
  PTHR46202 UniProtKB/Swiss-Prot
Pfam WD40 UniProtKB/Swiss-Prot
PharmGKB PA27853 PharmGKB
PRINTS GPROTEINBRPT UniProtKB/Swiss-Prot
PROSITE WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot
  WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50978 UniProtKB/Swiss-Prot
UniProt A0A0S2Z3L1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3P2_HUMAN UniProtKB/TrEMBL
  A0A2R8Y5I1 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YD24_HUMAN UniProtKB/TrEMBL
  A0A2R8YEZ3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFI5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH55_HUMAN UniProtKB/TrEMBL
  A0A7I2PE23_HUMAN UniProtKB/TrEMBL
  A0A804HIH7_HUMAN UniProtKB/TrEMBL
  A0A804HJL3_HUMAN UniProtKB/TrEMBL
  A0A804HJN0_HUMAN UniProtKB/TrEMBL
  A8K3W1 ENTREZGENE, UniProtKB/TrEMBL
  B2RB64 ENTREZGENE
  B3KPW7 ENTREZGENE, UniProtKB/TrEMBL
  B4DGZ9 ENTREZGENE, UniProtKB/TrEMBL
  B4E383 ENTREZGENE, UniProtKB/TrEMBL
  C9JNT2_HUMAN UniProtKB/TrEMBL
  ERCC8_HUMAN UniProtKB/Swiss-Prot
  G3XAG7_HUMAN UniProtKB/TrEMBL
  Q13216 ENTREZGENE
  Q6FHX5 ENTREZGENE
  Q96GB9 ENTREZGENE
UniProt Secondary B2RB64 UniProtKB/Swiss-Prot
  Q6FHX5 UniProtKB/Swiss-Prot
  Q96GB9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 ERCC8  ERCC excision repair 8, CSA ubiquitin ligase complex subunit  ERCC8  excision repair cross-complementation group 8  Symbol and/or name change 5135510 APPROVED
2014-03-12 ERCC8  excision repair cross-complementation group 8  ERCC8  excision repair cross-complementing rodent repair deficiency, complementation group 8  Symbol and/or name change 5135510 APPROVED