ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit) - Rat Genome Database

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Gene: ERCC4 (ERCC excision repair 4, endonuclease catalytic subunit) Homo sapiens
Analyze
Symbol: ERCC4
Name: ERCC excision repair 4, endonuclease catalytic subunit
RGD ID: 1312517
HGNC Page HGNC:3436
Description: Enables damaged DNA binding activity; identical protein binding activity; and single-stranded DNA binding activity. Contributes to 3' overhang single-stranded DNA endodeoxyribonuclease activity and DNA binding activity. Involved in DNA metabolic process; cellular response to UV; and negative regulation of telomere maintenance. Acts upstream of or within nucleotide-excision repair. Located in chromosome, telomeric region and nucleus. Part of ERCC4-ERCC1 complex and nucleotide-excision repair factor 1 complex. Implicated in Fanconi anemia complementation group Q; XFE progeroid syndrome; pancreatic cancer; polyneuropathy due to drug; and xeroderma pigmentosum (multiple). Biomarker of colorectal cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DNA excision repair protein ERCC-4; DNA repair endonuclease XPF; DNA repair protein complementing XP-F cells; ERCC11; excision repair cross-complementation group 4; excision repair cross-complementing rodent repair deficiency, complementation group 4; excision-repair, complementing defective, in Chinese hamster; FANCQ; RAD1; xeroderma pigmentosum group F-complementing protein; xeroderma pigmentosum, complementation group F; XFEPS; XPF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381613,920,154 - 13,952,348 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1613,920,138 - 13,952,348 (+)EnsemblGRCh38hg38GRCh38
GRCh371614,014,011 - 14,046,205 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361613,921,524 - 13,949,705 (+)NCBINCBI36Build 36hg18NCBI36
Build 341613,921,523 - 13,949,705NCBI
Celera1614,189,206 - 14,221,394 (+)NCBICelera
Cytogenetic Map16p13.12NCBI
HuRef1613,931,501 - 13,963,699 (+)NCBIHuRef
CHM1_11614,013,994 - 14,046,211 (+)NCBICHM1_1
T2T-CHM13v2.01613,957,393 - 13,989,586 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal aortic morphology  (IAGP)
Abnormal aortic valve morphology  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal femur morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal localization of kidney  (IAGP)
Abnormal morphology of ulna  (IAGP)
Abnormal nervous system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal preputium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of amino acid metabolism  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of chromosome stability  (IAGP)
Abnormality of extrapyramidal motor function  (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 eye  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the upper limb  (IAGP)
Abnormality of the urinary system  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absence of subcutaneous fat  (IAGP)
Absent brainstem auditory responses  (IAGP)
Absent testis  (IAGP)
Absent thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Alopecia  (IAGP)
Aminoaciduria  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Ankyloblepharon  (IAGP)
Anodontia  (IAGP)
Anophthalmia  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia/Hypoplasia involving the central nervous system  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the radius  (IAGP)
Aplasia/Hypoplasia of the uvula  (IAGP)
Arteriosclerosis  (IAGP)
Arteriovenous malformation  (IAGP)
Arthralgia  (IAGP)
Ascites  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azoospermia  (IAGP)
B Acute Lymphoblastic Leukemia  (IAGP)
Basal cell carcinoma  (IAGP)
Basal ganglia calcification  (IAGP)
Bicornuate uterus  (IAGP)
Biliary atresia  (IAGP)
Blepharitis  (IAGP)
Blindness  (IAGP)
Bone marrow hypocellularity  (IAGP)
Brain atrophy  (IAGP)
Breast carcinoma  (IAGP)
Cachexia  (IAGP)
Cataract  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Choanal atresia  (IAGP)
Chromosome breakage  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing of toes  (IAGP)
Cognitive impairment  (IAGP)
Confusion  (IAGP)
Congenital onset  (IAGP)
Conjunctival telangiectasia  (IAGP)
Conjunctivitis  (IAGP)
Convex nasal ridge  (IAGP)
Corneal scarring  (IAGP)
Cranial nerve paralysis  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Death in adolescence  (IAGP)
Decreased body weight  (IAGP)
Decreased fertility in males  (IAGP)
Decreased lacrimation  (IAGP)
Decreased testicular size  (IAGP)
Deeply set eye  (IAGP)
Defective DNA repair after ultraviolet radiation damage  (IAGP)
Deficient excision of UV-induced pyrimidine dimers in DNA  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Dermal atrophy  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Difficulty walking  (IAGP)
Diplopia  (IAGP)
Dolichocephaly  (IAGP)
Dry skin  (IAGP)
Duodenal stenosis  (IAGP)
Dysarthria  (IAGP)
Ectropion  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Enamel hypoplasia  (IAGP)
Entropion  (IAGP)
Epicanthus  (IAGP)
Erythema  (IAGP)
Esophageal atresia  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Finger syndactyly  (IAGP)
Flat nasal alae  (IAGP)
Flexion contracture  (IAGP)
Foot joint contracture  (IAGP)
Freckling  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing abnormality  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
High palate  (IAGP)
High pitched voice  (IAGP)
Hip dislocation  (IAGP)
Hydrocephalus  (IAGP)
Hydroureter  (IAGP)
Hyperkeratosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoalbuminemia  (IAGP)
Hypogonadism  (IAGP)
Hypohidrosis  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypoplasia of the primary teeth  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased blood urea nitrogen  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, progressive  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular hyperpigmentation  (IAGP)
Juvenile onset  (IAGP)
Keratitis  (IAGP)
Keratoacanthoma  (IAGP)
Leukopenia  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Lower limb spasticity  (IAGP)
Macrotia  (IAGP)
Macule  (IAGP)
Male hypogonadism  (IAGP)
Mandibular prognathia  (IAGP)
Meckel diverticulum  (IAGP)
Melanocytic nevus  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Morphological central nervous system abnormality  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Myelodysplasia  (IAGP)
Narrow face  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the eye  (IAGP)
Neoplasm of the skin  (IAGP)
Numerous pigmented freckles  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Opacification of the corneal stroma  (IAGP)
Optic atrophy  (IAGP)
Ovarian neoplasm  (IAGP)
Papilloma  (IAGP)
Papule  (IAGP)
Patent ductus arteriosus  (IAGP)
Peripheral neuropathy  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Photophobia  (IAGP)
Pigmentary retinopathy  (IAGP)
Poikiloderma  (IAGP)
Poor coordination  (IAGP)
Postnatal growth retardation  (IAGP)
Postural instability  (IAGP)
Premature loss of teeth  (IAGP)
Premature ovarian insufficiency  (IAGP)
Prematurely aged appearance  (IAGP)
Primum atrial septal defect  (IAGP)
Progeroid facial appearance  (IAGP)
Prominent supraorbital ridges  (IAGP)
Proptosis  (IAGP)
Proteinuria  (IAGP)
Pterygium  (IAGP)
Ptosis  (IAGP)
Pyridoxine-responsive sideroblastic anemia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Retinopathy  (IAGP)
Scarring  (IAGP)
Scoliosis  (IAGP)
Seborrheic keratosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe short stature  (IAGP)
Short chin  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Skin rash  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Spastic ataxia  (IAGP)
Spasticity  (IAGP)
Spina bifida  (IAGP)
Squamous cell carcinoma  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Strabismus  (IAGP)
Telangiectasia  (IAGP)
Telangiectasia of the skin  (IAGP)
Tetralogy of Fallot  (IAGP)
Thickened skin  (IAGP)
Thin skin  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Tremor  (IAGP)
Triphalangeal thumb  (IAGP)
Umbilical hernia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urticaria  (IAGP)
Uveitis  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
Widely spaced primary teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Inter-individual variation in nucleotide excision repair pathway is modulated by non-synonymous polymorphisms in ERCC4 and MBD4 genes. Allione A, etal., Mutat Res. 2013 Nov-Dec;751-752:49-54. doi: 10.1016/j.mrfmmm.2013.08.005. Epub 2013 Sep 1.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. 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.
4. Prognostic Value of Excision Repair Cross-Complementing mRNA Expression in Gastric Cancer. Luo SS, etal., Biomed Res Int. 2018 Oct 17;2018:6204684. doi: 10.1155/2018/6204684. eCollection 2018.
5. Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. McWilliams RR, etal., Cancer Res. 2008 Jun 15;68(12):4928-35. Epub 2008 Jun 10.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. The multi-replication protein A (RPA) system--a new perspective. Sakaguchi K, etal., FEBS J. 2009 Feb;276(4):943-63. doi: 10.1111/j.1742-4658.2008.06841.x. Epub 2009 Jan 12.
13. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Sijbers AM, etal., Cell. 1996 Sep 6;86(5):811-22.
14. Genotoxic stress and activation of novel DNA repair enzymes in human endothelial cells and in the retinas and kidneys of streptozotocin diabetic rats. Wang C, etal., Diabetes Metab Res Rev. 2012 May;28(4):329-37. doi: 10.1002/dmrr.2279.
15. Role for Nucleotide Excision Repair Gene Variants in Oxaliplatin-Induced Peripheral Neuropathy. West H, etal., JCO Precis Oncol. 2018 Nov;2:1-18. doi: 10.1200/PO.18.00090.
16. DNA repair pathway profiling and microsatellite instability in colorectal cancer. Yu J, etal., Clin Cancer Res. 2006 Sep 1;12(17):5104-11. doi: 10.1158/1078-0432.CCR-06-0547.
Additional References at PubMed
PMID:7559382   PMID:8197175   PMID:8332082   PMID:8887684   PMID:9013642   PMID:9485007   PMID:9579555   PMID:9580660   PMID:9722633   PMID:10074455   PMID:10214908   PMID:10413517  
PMID:10447254   PMID:10479728   PMID:10583946   PMID:10644440   PMID:11160918   PMID:11259578   PMID:11313499   PMID:11401546   PMID:11790111   PMID:11895912   PMID:12477932   PMID:12571280  
PMID:14625810   PMID:14652281   PMID:14690602   PMID:14706347   PMID:14728600   PMID:14734547   PMID:15095299   PMID:15184880   PMID:15849729   PMID:15886521   PMID:15932882   PMID:15936543  
PMID:16034668   PMID:16076955   PMID:16195237   PMID:16258177   PMID:16284373   PMID:16284380   PMID:16338413   PMID:16393248   PMID:16399771   PMID:16492920   PMID:16537713   PMID:16609022  
PMID:16638864   PMID:16678501   PMID:16806697   PMID:16823510   PMID:16889989   PMID:17018596   PMID:17055345   PMID:17078101   PMID:17081983   PMID:17210993   PMID:17289582   PMID:17299578  
PMID:17313739   PMID:17438655   PMID:17575242   PMID:17682675   PMID:17685459   PMID:17912758   PMID:17945097   PMID:18006494   PMID:18020456   PMID:18026184   PMID:18068852   PMID:18270339  
PMID:18396111   PMID:18551366   PMID:18676680   PMID:18701435   PMID:18709642   PMID:18767034   PMID:18812185   PMID:18830263   PMID:18838045   PMID:18990748   PMID:19029193   PMID:19064572  
PMID:19074885   PMID:19116388   PMID:19124519   PMID:19170196   PMID:19237606   PMID:19258314   PMID:19297315   PMID:19339270   PMID:19394292   PMID:19423537   PMID:19434073   PMID:19536092  
PMID:19595721   PMID:19595722   PMID:19596235   PMID:19596236   PMID:19625176   PMID:19692168   PMID:19902366   PMID:19920816   PMID:19940136   PMID:19956886   PMID:20061190   PMID:20062074  
PMID:20150366   PMID:20183911   PMID:20199546   PMID:20201926   PMID:20221251   PMID:20301571   PMID:20301575   PMID:20372803   PMID:20429839   PMID:20453000   PMID:20496165   PMID:20508642  
PMID:20518486   PMID:20522537   PMID:20541997   PMID:20585324   PMID:20601096   PMID:20634891   PMID:20644561   PMID:20694148   PMID:20731661   PMID:20846399   PMID:20864414   PMID:20957144  
PMID:21240275   PMID:21277872   PMID:21423097   PMID:21424776   PMID:21466675   PMID:21672525   PMID:21737503   PMID:21839691   PMID:21873635   PMID:21875596   PMID:21896658   PMID:22085899  
PMID:22212909   PMID:22353549   PMID:22457069   PMID:22483113   PMID:22547097   PMID:22609620   PMID:22768293   PMID:22771116   PMID:22848636   PMID:22902628   PMID:22939629   PMID:23033263  
PMID:23093618   PMID:23385459   PMID:23415627   PMID:23435956   PMID:23537993   PMID:23580445   PMID:23623386   PMID:23623389   PMID:23679285   PMID:23909490   PMID:23982883   PMID:23991957  
PMID:23994477   PMID:24012755   PMID:24027083   PMID:24036546   PMID:24318989   PMID:24412486   PMID:24412650   PMID:24465539   PMID:24528857   PMID:24709955   PMID:24780295   PMID:24794430  
PMID:24795708   PMID:24861646   PMID:24938470   PMID:24981860   PMID:25019640   PMID:25056061   PMID:25292041   PMID:25342505   PMID:25533185   PMID:25535740   PMID:25538220   PMID:25659891  
PMID:25722289   PMID:25730007   PMID:25812040   PMID:25818288   PMID:25879486   PMID:25921289   PMID:25956741   PMID:26025908   PMID:26045829   PMID:26074087   PMID:26085086   PMID:26146099  
PMID:26186194   PMID:26344197   PMID:26411687   PMID:26427666   PMID:26453996   PMID:26496610   PMID:26888738   PMID:26972000   PMID:27460091   PMID:27542841   PMID:28028171   PMID:28130555  
PMID:28292785   PMID:28514442   PMID:28607004   PMID:29180619   PMID:29403087   PMID:29507755   PMID:29544698   PMID:29656893   PMID:29739952   PMID:29741112   PMID:29795289   PMID:30021884  
PMID:30059501   PMID:30154076   PMID:30165384   PMID:30527102   PMID:30658521   PMID:30804394   PMID:31040199   PMID:31180492   PMID:31226203   PMID:31392348   PMID:31493872   PMID:31495888  
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PMID:33347546   PMID:33827099   PMID:33931939   PMID:33961781   PMID:34079125   PMID:34244565   PMID:34416547   PMID:34633654   PMID:34837148   PMID:35140242   PMID:35256949   PMID:35271311  
PMID:35780063   PMID:36070459   PMID:36215168   PMID:36880596   PMID:37071664   PMID:37689310  


Genomics

Comparative Map Data
ERCC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381613,920,154 - 13,952,348 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1613,920,138 - 13,952,348 (+)EnsemblGRCh38hg38GRCh38
GRCh371614,014,011 - 14,046,205 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361613,921,524 - 13,949,705 (+)NCBINCBI36Build 36hg18NCBI36
Build 341613,921,523 - 13,949,705NCBI
Celera1614,189,206 - 14,221,394 (+)NCBICelera
Cytogenetic Map16p13.12NCBI
HuRef1613,931,501 - 13,963,699 (+)NCBIHuRef
CHM1_11614,013,994 - 14,046,211 (+)NCBICHM1_1
T2T-CHM13v2.01613,957,393 - 13,989,586 (+)NCBIT2T-CHM13v2.0
Ercc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391612,927,600 - 12,969,873 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1612,927,548 - 12,968,481 (+)EnsemblGRCm39 Ensembl
GRCm381613,109,366 - 13,152,009 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1613,109,684 - 13,150,617 (+)EnsemblGRCm38mm10GRCm38
MGSCv371613,109,829 - 13,152,102 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361613,023,314 - 13,062,312 (+)NCBIMGSCv36mm8
Celera1613,713,278 - 13,755,555 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map168.93NCBI
Ercc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8102,926,085 - 2,958,176 (-)NCBIGRCr8
mRatBN7.2102,416,259 - 2,448,364 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl102,419,038 - 2,448,369 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0102,010,140 - 2,037,953 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl102,010,648 - 2,037,891 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010897,883 - 925,957 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4102,144,262 - 2,177,554NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Cytogenetic Map10q11NCBI
Ercc4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554424,831,721 - 4,861,122 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554424,833,453 - 4,861,201 (-)NCBIChiLan1.0ChiLan1.0
ERCC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21814,450,518 - 14,488,695 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11618,233,313 - 18,271,502 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01612,848,334 - 12,880,480 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11614,272,417 - 14,304,496 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1614,272,417 - 14,304,496 (+)Ensemblpanpan1.1panPan2
ERCC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1629,193,192 - 29,226,935 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl629,196,421 - 29,226,887 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha630,549,605 - 30,589,551 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0629,350,548 - 29,390,623 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl629,356,743 - 29,390,593 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1629,153,426 - 29,193,360 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0629,040,862 - 29,080,753 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0629,458,540 - 29,498,483 (-)NCBIUU_Cfam_GSD_1.0
Ercc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344114,203,183 - 114,231,487 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365012,300,835 - 2,329,351 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365012,301,072 - 2,329,346 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERCC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl329,269,989 - 29,306,151 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1329,266,234 - 29,306,109 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2330,352,659 - 30,377,491 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERCC4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1513,378,282 - 13,410,307 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl513,378,401 - 13,406,541 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606816,647,372 - 16,679,353 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ercc4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247824,512,650 - 4,537,701 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247824,508,758 - 4,537,751 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERCC4
769 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=) single nucleotide variant ERCC4-related condition [RCV003952851]|Xeroderma pigmentosum, group F [RCV001455477] Chr16:13934212 [GRCh38]
Chr16:14028069 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2304_2307del (p.Thr770fs) microsatellite Xeroderma pigmentosum, group F [RCV000018047] Chr16:13947896..13947899 [GRCh38]
Chr16:14041753..14041756 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) single nucleotide variant Xeroderma pigmentosum [RCV002257839]|Xeroderma pigmentosum, group F [RCV000547965]|Xeroderma pigmentosum, group F [RCV001117537]|not provided [RCV001569666]|not specified [RCV001821617] Chr16:13922148 [GRCh38]
Chr16:14016005 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) single nucleotide variant Breast carcinoma [RCV001262417]|Carcinoma of pancreas [RCV001391196]|ERCC4-related condition [RCV003924841]|Fanconi anemia complementation group Q [RCV001787804]|Hutchinson-Gilford syndrome [RCV001034542]|XFE progeroid syndrome [RCV000766208]|Xeroderma pigmentosum [RCV002257360]|Xeroderma pigmentosum, group F [RCV000018048]|Xeroderma pigmentosum, group F [RCV000467658]|Xeroderma pigmentosum, group F [RCV000768209]|not provided [RCV000415873]|not specified [RCV000120808] Chr16:13947991 [GRCh38]
Chr16:14041848 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005236.3(ERCC4):c.458G>C (p.Arg153Pro) single nucleotide variant XFE progeroid syndrome [RCV000018049] Chr16:13926630 [GRCh38]
Chr16:14020487 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1484_1488del (p.Thr495fs) deletion Fanconi anemia complementation group Q [RCV000049244]|Precursor B-cell acute lymphoblastic leukemia [RCV000722038] Chr16:13935414..13935418 [GRCh38]
Chr16:14029271..14029275 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) single nucleotide variant Fanconi anemia complementation group Q [RCV000049245]|Xeroderma pigmentosum, group F [RCV001067959]|not provided [RCV003144119] Chr16:13947661 [GRCh38]
Chr16:14041518 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic
NM_005236.3(ERCC4):c.2371_2398dup (p.Ile800fs) duplication Fanconi anemia complementation group Q [RCV000049246]|Xeroderma pigmentosum, group F [RCV001310216] Chr16:13947966..13947967 [GRCh38]
Chr16:14041823..14041824 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic
NM_005236.3(ERCC4):c.689T>C (p.Leu230Pro) single nucleotide variant Fanconi anemia complementation group Q [RCV000049247] Chr16:13928132 [GRCh38]
Chr16:14021989 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg) single nucleotide variant Xeroderma pigmentosum, type F/Cockayne syndrome [RCV000049248]|not provided [RCV001568088] Chr16:13928149 [GRCh38]
Chr16:14022006 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic
NM_005236.3(ERCC4):c.1730dup (p.Tyr577Ter) duplication Spastic ataxia [RCV001646986]|Xeroderma pigmentosum, group F [RCV001853034]|Xeroderma pigmentosum, type F/Cockayne syndrome [RCV000049249] Chr16:13935661..13935662 [GRCh38]
Chr16:14029518..14029519 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1765C>T (p.Arg589Trp) single nucleotide variant ERCC4-related condition [RCV003415812]|Xeroderma pigmentosum [RCV002222373]|Xeroderma pigmentosum, group F [RCV000700109]|Xeroderma pigmentosum, group F [RCV000762956]|Xeroderma pigmentosum, type F/Cockayne syndrome [RCV000049250] Chr16:13935697 [GRCh38]
Chr16:14029554 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1 copy number loss See cases [RCV000052484] Chr16:11967831..15162888 [GRCh38]
Chr16:12061688..15256745 [GRCh37]
Chr16:11969189..15164246 [NCBI36]
Chr16:16p13.13-13.11		 pathogenic
NM_005236.2(ERCC4):c.1025G>A (p.Arg342Lys) single nucleotide variant Malignant melanoma [RCV000070992] Chr16:13932208 [GRCh38]
Chr16:14026065 [GRCh37]
Chr16:13933566 [NCBI36]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.420C>T (p.Ile140=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002132596] Chr16:13926592 [GRCh38]
Chr16:14020449 [GRCh37]
Chr16:13927950 [NCBI36]
Chr16:16p13.12		 likely benign|not provided
NM_005236.2(ERCC4):c.2358C>T (p.Ser786=) single nucleotide variant Malignant melanoma [RCV000062965] Chr16:13947954 [GRCh38]
Chr16:14041811 [GRCh37]
Chr16:13949312 [NCBI36]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) single nucleotide variant Fanconi anemia complementation group Q [RCV001657727]|XFE progeroid syndrome [RCV001657726]|Xeroderma pigmentosum, group F [RCV000265728]|Xeroderma pigmentosum, group F [RCV001514330]|not provided [RCV001650957]|not specified [RCV000116988] Chr16:13948101 [GRCh38]
Chr16:14041958 [GRCh37]
Chr16:16p13.12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000210773]|Xeroderma pigmentosum, group F [RCV000228558]|Xeroderma pigmentosum, group F [RCV001117767]|not provided [RCV000224428]|not specified [RCV000116989] Chr16:13948220 [GRCh38]
Chr16:14042077 [GRCh37]
Chr16:16p13.12		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) single nucleotide variant Fanconi anemia complementation group Q [RCV001292633]|Xeroderma pigmentosum [RCV002257426]|Xeroderma pigmentosum, group F [RCV000475143]|Xeroderma pigmentosum, group F [RCV000989531]|Xeroderma pigmentosum, group F [RCV002477311]|not provided [RCV000734582]|not specified [RCV000120803] Chr16:13920181 [GRCh38]
Chr16:14014038 [GRCh37]
Chr16:16p13.12		 uncertain significance|not provided
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) single nucleotide variant Xeroderma pigmentosum [RCV002257427]|Xeroderma pigmentosum, group F [RCV000372597]|Xeroderma pigmentosum, group F [RCV001340956]|Xeroderma pigmentosum, group F [RCV002477312]|not specified [RCV000120804] Chr16:13920244 [GRCh38]
Chr16:14014101 [GRCh37]
Chr16:16p13.12		 uncertain significance|not provided
NM_005236.3(ERCC4):c.176T>A (p.Val59Glu) single nucleotide variant not specified [RCV000120805] Chr16:13920341 [GRCh38]
Chr16:14014198 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV000355415]|Xeroderma pigmentosum, group F [RCV000466960]|not provided [RCV001668272]|not specified [RCV000120806] Chr16:13944802 [GRCh38]
Chr16:14038659 [GRCh37]
Chr16:16p13.12		 benign|likely benign|not provided
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) single nucleotide variant Xeroderma pigmentosum [RCV002258799]|Xeroderma pigmentosum, group F [RCV001086582]|Xeroderma pigmentosum, group F [RCV001117766]|not provided [RCV000514744]|not specified [RCV000120807] Chr16:13948213 [GRCh38]
Chr16:14042070 [GRCh37]
Chr16:16p13.12		 benign|likely benign|not provided
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001296332]|not specified [RCV000120809] Chr16:13948073 [GRCh38]
Chr16:14041930 [GRCh37]
Chr16:16p13.12		 uncertain significance|not provided
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) single nucleotide variant Fanconi anemia complementation group Q [RCV002470769]|Inborn genetic diseases [RCV002515858]|Ovarian cancer [RCV003153389]|Xeroderma pigmentosum [RCV002257428]|Xeroderma pigmentosum, group F [RCV000535348]|Xeroderma pigmentosum, group F [RCV003315749]|not specified [RCV000120810] Chr16:13948141 [GRCh38]
Chr16:14041998 [GRCh37]
Chr16:16p13.12		 benign|likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) single nucleotide variant Hutchinson-Gilford syndrome [RCV001034545]|Inborn genetic diseases [RCV002515859]|Xeroderma pigmentosum [RCV002257429]|Xeroderma pigmentosum, group F [RCV000476568]|Xeroderma pigmentosum, group F [RCV000989535]|not specified [RCV000120811] Chr16:13948175 [GRCh38]
Chr16:14042032 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001854622]|not specified [RCV000120812] Chr16:13948186 [GRCh38]
Chr16:14042043 [GRCh37]
Chr16:16p13.12		 uncertain significance|not provided
NM_005236.3(ERCC4):c.2608G>A (p.Val870Ile) single nucleotide variant not specified [RCV000120813] Chr16:13948204 [GRCh38]
Chr16:14042061 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV000474309]|Xeroderma pigmentosum, group F [RCV003315750]|not provided [RCV001356061]|not specified [RCV000120814] Chr16:13948330 [GRCh38]
Chr16:14042187 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) single nucleotide variant ERCC4-related condition [RCV003915202]|Fanconi anemia complementation group Q [RCV001788036]|Inborn genetic diseases [RCV002515860]|XFE progeroid syndrome [RCV001332584]|Xeroderma pigmentosum [RCV002257430]|Xeroderma pigmentosum, group F [RCV000463526]|Xeroderma pigmentosum, group F [RCV001121237]|not provided [RCV001354835]|not specified [RCV000120815] Chr16:13947713 [GRCh38]
Chr16:14041570 [GRCh37]
Chr16:16p13.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) single nucleotide variant Fanconi anemia complementation group Q [RCV002291562]|Inborn genetic diseases [RCV002515861]|Xeroderma pigmentosum, group F [RCV000475162]|Xeroderma pigmentosum, group F [RCV001116101]|Xeroderma pigmentosum, group F [RCV002492422]|not provided [RCV001358031]|not specified [RCV000120816] Chr16:13922040 [GRCh38]
Chr16:14015897 [GRCh37]
Chr16:16p13.12		 uncertain significance|not provided
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) single nucleotide variant Xeroderma pigmentosum [RCV002257431]|Xeroderma pigmentosum, group F [RCV000234335]|Xeroderma pigmentosum, group F [RCV003315751]|not provided [RCV003415912]|not specified [RCV000120817] Chr16:13922064 [GRCh38]
Chr16:14015921 [GRCh37]
Chr16:16p13.12		 benign|likely benign|not provided
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) single nucleotide variant Xeroderma pigmentosum, group F [RCV001209805]|Xeroderma pigmentosum, group F [RCV001543122]|not provided [RCV000728799]|not specified [RCV000120818] Chr16:13922034 [GRCh38]
Chr16:14015891 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro) single nucleotide variant not provided [RCV003237721]|not specified [RCV000120819] Chr16:13930855 [GRCh38]
Chr16:14024712 [GRCh37]
Chr16:16p13.12		 uncertain significance|not provided
NM_005236.3(ERCC4):c.988G>C (p.Asp330His) single nucleotide variant not specified [RCV000120820] Chr16:13932171 [GRCh38]
Chr16:14026028 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) single nucleotide variant ERCC4-related condition [RCV003925183]|Xeroderma pigmentosum [RCV002257432]|Xeroderma pigmentosum, group F [RCV001083882]|Xeroderma pigmentosum, group F [RCV001116216]|Xeroderma pigmentosum, group F [RCV003224157]|not provided [RCV000224511]|not specified [RCV000120821] Chr16:13934224 [GRCh38]
Chr16:14028081 [GRCh37]
Chr16:16p13.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005236.3(ERCC4):c.1447A>G (p.Arg483Gly) single nucleotide variant not specified [RCV000120822] Chr16:13935379 [GRCh38]
Chr16:14029236 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) single nucleotide variant Hutchinson-Gilford syndrome [RCV001034544]|Inborn genetic diseases [RCV002515862]|Xeroderma pigmentosum [RCV002258800]|Xeroderma pigmentosum, group F [RCV000459235]|Xeroderma pigmentosum, group F [RCV001117661]|not specified [RCV000120823] Chr16:13935420 [GRCh38]
Chr16:14029277 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) single nucleotide variant Fanconi anemia complementation group Q [RCV003474727]|Xeroderma pigmentosum, group F [RCV001854623]|not specified [RCV000120824] Chr16:13935589 [GRCh38]
Chr16:14029446 [GRCh37]
Chr16:16p13.12		 uncertain significance|not provided
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) single nucleotide variant Fanconi anemia complementation group Q [RCV001294104]|Xeroderma pigmentosum, group F [RCV000651482]|not specified [RCV000120825] Chr16:13935347 [GRCh38]
Chr16:14029204 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) single nucleotide variant ERCC4-related condition [RCV003975071]|Fanconi anemia complementation group Q [RCV001292825]|Xeroderma pigmentosum [RCV002258801]|Xeroderma pigmentosum, group F [RCV000343662]|Xeroderma pigmentosum, group F [RCV000546465]|Xeroderma pigmentosum, group F [RCV000764023]|not provided [RCV001355143]|not specified [RCV000120826] Chr16:13935495 [GRCh38]
Chr16:14029352 [GRCh37]
Chr16:16p13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005236.3(ERCC4):c.1711C>T (p.His571Tyr) single nucleotide variant not specified [RCV000120827] Chr16:13935643 [GRCh38]
Chr16:14029500 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV000283278]|Xeroderma pigmentosum, group F [RCV001521901]|not provided [RCV001668273]|not specified [RCV000120828] Chr16:13935176 [GRCh38]
Chr16:14029033 [GRCh37]
Chr16:16p13.12		 benign|likely benign|not provided
NM_005236.3(ERCC4):c.1523G>A (p.Gly508Glu) single nucleotide variant not specified [RCV000120829] Chr16:13935455 [GRCh38]
Chr16:14029312 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV000989533]|Xeroderma pigmentosum, group F [RCV001854624]|not specified [RCV000120830] Chr16:13935538 [GRCh38]
Chr16:14029395 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) single nucleotide variant Fanconi anemia complementation group Q [RCV001294105]|Inborn genetic diseases [RCV002515863]|Xeroderma pigmentosum [RCV002257433]|Xeroderma pigmentosum, group F [RCV000651477]|Xeroderma pigmentosum, group F [RCV001119237]|Xeroderma pigmentosum, group F [RCV002055332]|not provided [RCV001357601]|not specified [RCV000120831] Chr16:13935659 [GRCh38]
Chr16:14029516 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance|not provided
NM_005236.3(ERCC4):c.2017+1G>A single nucleotide variant not specified [RCV000122394] Chr16:13944836 [GRCh38]
Chr16:14038693 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp) single nucleotide variant Xeroderma pigmentosum, group F [RCV001302545] Chr16:13937824 [GRCh38]
Chr16:14031681 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) single nucleotide variant Xeroderma pigmentosum [RCV002258184]|Xeroderma pigmentosum, group F [RCV001294508] Chr16:13930864 [GRCh38]
Chr16:14024721 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly) single nucleotide variant Fanconi anemia complementation group Q [RCV001294106] Chr16:13935697 [GRCh38]
Chr16:14029554 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.17C>T (p.Pro6Leu) single nucleotide variant Fanconi anemia complementation group Q [RCV001294107] Chr16:13920182 [GRCh38]
Chr16:14014039 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.12(chr16:13922139-13957164)x3 copy number gain See cases [RCV000135920] Chr16:13922139..13957164 [GRCh38]
Chr16:14015996..14051021 [GRCh37]
Chr16:13923497..13958522 [NCBI36]
Chr16:16p13.12		 benign
GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1 copy number loss See cases [RCV000137596] Chr16:11952467..15186199 [GRCh38]
Chr16:12046324..15280056 [GRCh37]
Chr16:11953825..15187557 [NCBI36]
Chr16:16p13.13-13.11		 likely pathogenic
NM_005236.3(ERCC4):c.974-6T>C single nucleotide variant Xeroderma pigmentosum [RCV002257501]|Xeroderma pigmentosum, group F [RCV000353369]|Xeroderma pigmentosum, group F [RCV000964431]|not provided [RCV003417735]|not specified [RCV000202807] Chr16:13932151 [GRCh38]
Chr16:14026008 [GRCh37]
Chr16:16p13.12		 benign|likely benign|uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_005236.3(ERCC4):c.*2577del deletion Xeroderma pigmentosum [RCV000314550]|not specified [RCV000192706] Chr16:13950919 [GRCh38]
Chr16:14044776 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.*2577C>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000369259]|not specified [RCV000194891] Chr16:13950924 [GRCh38]
Chr16:14044781 [GRCh37]
Chr16:16p13.12		 benign|likely benign
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) single nucleotide variant Xeroderma pigmentosum [RCV002257837]|Xeroderma pigmentosum, group F [RCV000543207]|not specified [RCV001821616] Chr16:13947721 [GRCh38]
Chr16:14041578 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_005236.3(ERCC4):c.89A>C (p.Asp30Ala) single nucleotide variant not provided [RCV000224195] Chr16:13920254 [GRCh38]
Chr16:14014111 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) single nucleotide variant ERCC4-related condition [RCV003919964]|Xeroderma pigmentosum, group F [RCV000229024]|Xeroderma pigmentosum, group F [RCV000324572] Chr16:13948059 [GRCh38]
Chr16:14041916 [GRCh37]
Chr16:16p13.12		 benign|uncertain significance
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000231873]|Xeroderma pigmentosum, group F [RCV000401388]|not provided [RCV001618353]|not specified [RCV000247899] Chr16:13922075 [GRCh38]
Chr16:14015932 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000232260]|Xeroderma pigmentosum, group F [RCV001121019]|not provided [RCV001565313]|not specified [RCV000251617] Chr16:13920198 [GRCh38]
Chr16:14014055 [GRCh37]
Chr16:16p13.12		 benign|likely benign
GRCh37/hg19 16p13.12(chr16:13889247-14163635)x3 copy number gain Premature ovarian failure [RCV000225108] Chr16:13889247..14163635 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) single nucleotide variant ERCC4-related condition [RCV003929973]|Fanconi anemia complementation group Q [RCV001294109]|Xeroderma pigmentosum, group F [RCV000226103] Chr16:13926675 [GRCh38]
Chr16:14020532 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.915del (p.Asn308fs) deletion Xeroderma pigmentosum, group F [RCV001855213]|not provided [RCV000350484] Chr16:13930832 [GRCh38]
Chr16:14024689 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic
NM_005236.3(ERCC4):c.974-7G>A single nucleotide variant Fanconi anemia complementation group Q [RCV001660282]|XFE progeroid syndrome [RCV001660281]|Xeroderma pigmentosum, group F [RCV000318579]|Xeroderma pigmentosum, group F [RCV001520608]|not provided [RCV001689852]|not specified [RCV000246561] Chr16:13932150 [GRCh38]
Chr16:14026007 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) single nucleotide variant Xeroderma pigmentosum [RCV002258866]|Xeroderma pigmentosum, group F [RCV000288466]|Xeroderma pigmentosum, group F [RCV000462759]|not provided [RCV001531228]|not specified [RCV000246670] Chr16:13948320 [GRCh38]
Chr16:14042177 [GRCh37]
Chr16:16p13.12		 benign|likely benign|uncertain significance
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000384807]|Xeroderma pigmentosum, group F [RCV000464766]|Xeroderma pigmentosum, group F [RCV002500902]|not provided [RCV001689851]|not specified [RCV000242822] Chr16:13948251 [GRCh38]
Chr16:14042108 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.*11C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000327126]|not provided [RCV001660278]|not specified [RCV000250244] Chr16:13948358 [GRCh38]
Chr16:14042215 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.207+11G>A single nucleotide variant Fanconi anemia complementation group Q [RCV001660280]|XFE progeroid syndrome [RCV001660279]|Xeroderma pigmentosum, group F [RCV000342604]|Xeroderma pigmentosum, group F [RCV002058182]|not provided [RCV001711702]|not specified [RCV000250561] Chr16:13920383 [GRCh38]
Chr16:14014240 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*1774C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000282313] Chr16:13950121 [GRCh38]
Chr16:14043978 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3801C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000300294] Chr16:13952148 [GRCh38]
Chr16:14046005 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV000284135] Chr16:13922098 [GRCh38]
Chr16:14015955 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1880C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000283078] Chr16:13950227 [GRCh38]
Chr16:14044084 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.105C>T (p.Cys35=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000285190]|Xeroderma pigmentosum, group F [RCV002061190] Chr16:13920270 [GRCh38]
Chr16:14014127 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*2139A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000397371] Chr16:13950486 [GRCh38]
Chr16:14044343 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*726G>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000302862] Chr16:13949073 [GRCh38]
Chr16:14042930 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*558A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000303898] Chr16:13948905 [GRCh38]
Chr16:14042762 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*539G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000398977] Chr16:13948886 [GRCh38]
Chr16:14042743 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*810G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000269593] Chr16:13949157 [GRCh38]
Chr16:14043014 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*971C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000330321] Chr16:13949318 [GRCh38]
Chr16:14043175 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*3439G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000352623] Chr16:13951786 [GRCh38]
Chr16:14045643 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*3032G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000380253] Chr16:13951379 [GRCh38]
Chr16:14045236 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*2513C>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000273445] Chr16:13950860 [GRCh38]
Chr16:14044717 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*3130T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000291659] Chr16:13951477 [GRCh38]
Chr16:14045334 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*947T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000275355] Chr16:13949294 [GRCh38]
Chr16:14043151 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV000312288]|Xeroderma pigmentosum, group F [RCV002522812]|not provided [RCV002269267] Chr16:13944760 [GRCh38]
Chr16:14038617 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3327A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000293117] Chr16:13951674 [GRCh38]
Chr16:14045531 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.*1421G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000276328] Chr16:13949768 [GRCh38]
Chr16:14043625 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV000294613]|Xeroderma pigmentosum, group F [RCV001069081]|Xeroderma pigmentosum, group F [RCV002487399] Chr16:13935608 [GRCh38]
Chr16:14029465 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3913G>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000263984] Chr16:13952260 [GRCh38]
Chr16:14046117 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.*192T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000296569] Chr16:13948539 [GRCh38]
Chr16:14042396 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1102+13G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000260868]|Xeroderma pigmentosum, group F [RCV002061191] Chr16:13932298 [GRCh38]
Chr16:14026155 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*2588A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000260743] Chr16:13950935 [GRCh38]
Chr16:14044792 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV000297698]|Xeroderma pigmentosum, group F [RCV001859895] Chr16:13947862 [GRCh38]
Chr16:14041719 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3537C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000299131] Chr16:13951884 [GRCh38]
Chr16:14045741 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.41C>G (p.Pro14Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV000281667] Chr16:13920206 [GRCh38]
Chr16:14014063 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*674G>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000342516] Chr16:13949021 [GRCh38]
Chr16:14042878 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.*384A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000281423] Chr16:13948731 [GRCh38]
Chr16:14042588 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2879A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000321089] Chr16:13951226 [GRCh38]
Chr16:14045083 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000321953]|Xeroderma pigmentosum, group F [RCV000529282]|not provided [RCV003422265]|not specified [RCV001820939] Chr16:13935216 [GRCh38]
Chr16:14029073 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*3921A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000323834] Chr16:13952268 [GRCh38]
Chr16:14046125 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3200A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000394915] Chr16:13951547 [GRCh38]
Chr16:14045404 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*3195G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000346605] Chr16:13951542 [GRCh38]
Chr16:14045399 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*1708G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000372133] Chr16:13950055 [GRCh38]
Chr16:14043912 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*248G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000349389] Chr16:13948595 [GRCh38]
Chr16:14042452 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*675G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000399809] Chr16:13949022 [GRCh38]
Chr16:14042879 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.*2174A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000307948] Chr16:13950521 [GRCh38]
Chr16:14044378 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.2519A>C (p.Glu840Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV000327964] Chr16:13948115 [GRCh38]
Chr16:14041972 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) single nucleotide variant Fanconi anemia complementation group Q [RCV001292598]|Xeroderma pigmentosum, group F [RCV000351813]|Xeroderma pigmentosum, group F [RCV001049483]|Xeroderma pigmentosum, group F [RCV002504085] Chr16:13935660 [GRCh38]
Chr16:14029517 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2759C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000375160] Chr16:13951106 [GRCh38]
Chr16:14044963 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1858C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000377700] Chr16:13950205 [GRCh38]
Chr16:14044062 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) single nucleotide variant ERCC4-related condition [RCV003922334]|Xeroderma pigmentosum, group F [RCV000402299]|Xeroderma pigmentosum, group F [RCV000464997] Chr16:13937838 [GRCh38]
Chr16:14031695 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.*3493T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000402317] Chr16:13951840 [GRCh38]
Chr16:14045697 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.935C>G (p.Ser312Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV000275221] Chr16:13930852 [GRCh38]
Chr16:14024709 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000354867]|Xeroderma pigmentosum, group F [RCV000863529]|not specified [RCV001820940] Chr16:13947888 [GRCh38]
Chr16:14041745 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) single nucleotide variant Xeroderma pigmentosum [RCV002257638]|Xeroderma pigmentosum, group F [RCV000380080]|Xeroderma pigmentosum, group F [RCV001850680]|Xeroderma pigmentosum, group F [RCV002502235] Chr16:13935149 [GRCh38]
Chr16:14029006 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3125A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000381289] Chr16:13951472 [GRCh38]
Chr16:14045329 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.*2872A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000265952] Chr16:13951219 [GRCh38]
Chr16:14045076 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV000334401]|Xeroderma pigmentosum, group F [RCV001362330] Chr16:13920226 [GRCh38]
Chr16:14014083 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV000358179]|Xeroderma pigmentosum, group F [RCV002522814] Chr16:13948096 [GRCh38]
Chr16:14041953 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000407678]|Xeroderma pigmentosum, group F [RCV002522813] Chr16:13947795 [GRCh38]
Chr16:14041652 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.8C>T (p.Ser3Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003765689]|not provided [RCV000362531] Chr16:13920173 [GRCh38]
Chr16:14014030 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1796T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000337072] Chr16:13950143 [GRCh38]
Chr16:14044000 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3953del deletion Xeroderma pigmentosum [RCV000359931] Chr16:13952293 [GRCh38]
Chr16:14046150 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV000267041] Chr16:13947930 [GRCh38]
Chr16:14041787 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*484G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000338839] Chr16:13948831 [GRCh38]
Chr16:14042688 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*248G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000387565] Chr16:13948595 [GRCh38]
Chr16:14042452 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*745A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000364610] Chr16:13949092 [GRCh38]
Chr16:14042949 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1251T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000389588] Chr16:13949598 [GRCh38]
Chr16:14043455 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) single nucleotide variant Inborn genetic diseases [RCV002550735]|Xeroderma pigmentosum, group F [RCV001065281]|not provided [RCV000999523]|not specified [RCV001819713] Chr16:13932184 [GRCh38]
Chr16:14026041 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001205641]|Xeroderma pigmentosum, group F [RCV002506183]|not provided [RCV000488081] Chr16:13947814 [GRCh38]
Chr16:14041671 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV000291469]|Xeroderma pigmentosum, group F [RCV003765845] Chr16:13935395 [GRCh38]
Chr16:14029252 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2240A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000399293] Chr16:13950587 [GRCh38]
Chr16:14044444 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000315093]|Xeroderma pigmentosum, group F [RCV002522811] Chr16:13930757 [GRCh38]
Chr16:14024614 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*3753C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000401093] Chr16:13952100 [GRCh38]
Chr16:14045957 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2659T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000315948] Chr16:13951006 [GRCh38]
Chr16:14044863 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1463C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000317354] Chr16:13949810 [GRCh38]
Chr16:14043667 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*875A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000365263] Chr16:13949222 [GRCh38]
Chr16:14043079 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1432G>A (p.Ala478Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV000383486] Chr16:13935364 [GRCh38]
Chr16:14029221 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.891T>C (p.Tyr297=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000367452] Chr16:13930808 [GRCh38]
Chr16:14024665 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2423A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV000367920] Chr16:13950770 [GRCh38]
Chr16:14044627 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*150T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000388735] Chr16:13948497 [GRCh38]
Chr16:14042354 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3044A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000285923] Chr16:13951391 [GRCh38]
Chr16:14045248 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2255G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000308598] Chr16:13950602 [GRCh38]
Chr16:14044459 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1112A>G (p.Lys371Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV000323079] Chr16:13934201 [GRCh38]
Chr16:14028058 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3542T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000354023] Chr16:13951889 [GRCh38]
Chr16:14045746 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*859A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000310630] Chr16:13949206 [GRCh38]
Chr16:14043063 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3071T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000326683] Chr16:13951418 [GRCh38]
Chr16:14045275 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3818G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000358724] Chr16:13952165 [GRCh38]
Chr16:14046022 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1647A>C (p.Glu549Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV000396319] Chr16:13935579 [GRCh38]
Chr16:14029436 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1897A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV000342726] Chr16:13950244 [GRCh38]
Chr16:14044101 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2180G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV000344030] Chr16:13950527 [GRCh38]
Chr16:14044384 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2550CTT[1] (p.Phe851del) microsatellite not provided [RCV000723229] Chr16:13948146..13948148 [GRCh38]
Chr16:14042003..14042005 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1553_1554del (p.Ile518fs) deletion not provided [RCV000722580] Chr16:13935484..13935485 [GRCh38]
Chr16:14029341..14029342 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1489A>G (p.Met497Val) single nucleotide variant not provided [RCV000416265] Chr16:13935421 [GRCh38]
Chr16:14029278 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) single nucleotide variant ERCC4-related condition [RCV003900232]|Xeroderma pigmentosum [RCV002257838]|Xeroderma pigmentosum, group F [RCV000560297]|Xeroderma pigmentosum, group F [RCV001116102] Chr16:13922051 [GRCh38]
Chr16:14015908 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.372T>C (p.Pro124=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002530237] Chr16:13922195 [GRCh38]
Chr16:14016052 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) single nucleotide variant Fanconi anemia complementation group Q [RCV001292941]|Xeroderma pigmentosum, group F [RCV000540520] Chr16:13932214 [GRCh38]
Chr16:14026071 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1523_1525del (p.Gly508del) deletion not provided [RCV000723096] Chr16:13935453..13935455 [GRCh38]
Chr16:14029310..14029312 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV000536696]|Xeroderma pigmentosum, group F [RCV001121126]|not provided [RCV001764609]|not specified [RCV001821618] Chr16:13926704 [GRCh38]
Chr16:14020561 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV000697984] Chr16:13930807 [GRCh38]
Chr16:14024664 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.755del (p.Leu252fs) deletion not provided [RCV000420009] Chr16:13928196 [GRCh38]
Chr16:14022053 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001490032] Chr16:13937853 [GRCh38]
Chr16:14031710 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.389-5C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV000474414]|Xeroderma pigmentosum, group F [RCV003316607]|not specified [RCV001821351] Chr16:13926556 [GRCh38]
Chr16:14020413 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV000459953] Chr16:13930806 [GRCh38]
Chr16:14024663 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000460320]|Xeroderma pigmentosum, group F [RCV001117659]|not provided [RCV003457691]|not specified [RCV001821352] Chr16:13935378 [GRCh38]
Chr16:14029235 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.974-7_974-6inv inversion Xeroderma pigmentosum, group F [RCV001517902] Chr16:13932150..13932151 [GRCh38]
Chr16:14026007..14026008 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000469080] Chr16:13934301 [GRCh38]
Chr16:14028158 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000472869] Chr16:13935609 [GRCh38]
Chr16:14029466 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.718C>T (p.Leu240=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000469387]|not specified [RCV001821353] Chr16:13928161 [GRCh38]
Chr16:14022018 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.41C>T (p.Pro14Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV000462139] Chr16:13920206 [GRCh38]
Chr16:14014063 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) single nucleotide variant Xeroderma pigmentosum, group F [RCV000473210]|Xeroderma pigmentosum, group F [RCV002496767] Chr16:13922064 [GRCh38]
Chr16:14015921 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000651480]|not specified [RCV000503360] Chr16:13948023 [GRCh38]
Chr16:14041880 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) single nucleotide variant Xeroderma pigmentosum [RCV002258936]|Xeroderma pigmentosum, group F [RCV002060113]|not specified [RCV000503387] Chr16:13948290 [GRCh38]
Chr16:14042147 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) single nucleotide variant Xeroderma pigmentosum [RCV002258935]|Xeroderma pigmentosum, group F [RCV000530646]|not specified [RCV000499736] Chr16:13947642 [GRCh38]
Chr16:14041499 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.471A>G (p.Lys157=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002060112]|not specified [RCV000499897] Chr16:13926643 [GRCh38]
Chr16:14020500 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV001857095]|not specified [RCV000502790] Chr16:13934199 [GRCh38]
Chr16:14028056 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.906T>C (p.Asp302=) single nucleotide variant Xeroderma pigmentosum [RCV002257771]|Xeroderma pigmentosum, group F [RCV001449127]|not specified [RCV000500726] Chr16:13930823 [GRCh38]
Chr16:14024680 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.396G>T (p.Leu132Phe) single nucleotide variant not provided [RCV002266974]|not specified [RCV000503087] Chr16:13926568 [GRCh38]
Chr16:14020425 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005236.3(ERCC4):c.523T>G (p.Phe175Val) single nucleotide variant Inborn genetic diseases [RCV003256970] Chr16:13926695 [GRCh38]
Chr16:14020552 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1812-5T>C single nucleotide variant ERCC4-related condition [RCV003965394]|Fanconi anemia complementation group Q [RCV001788310]|Inborn genetic diseases [RCV002531975]|Xeroderma pigmentosum [RCV002257913]|Xeroderma pigmentosum, group F [RCV000651479]|Xeroderma pigmentosum, group F [RCV000989534] Chr16:13937761 [GRCh38]
Chr16:14031618 [GRCh37]
Chr16:16p13.12		 benign|likely benign|uncertain significance
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) single nucleotide variant Xeroderma pigmentosum [RCV002257914]|Xeroderma pigmentosum, group F [RCV000651481]|not provided [RCV002469237] Chr16:13944801 [GRCh38]
Chr16:14038658 [GRCh37]
Chr16:16p13.12		 likely benign
NC_000016.10:g.(?_13928022)_(13928241_?)del deletion Xeroderma pigmentosum, group F [RCV000651483] Chr16:13928022..13928241 [GRCh38]
Chr16:14021879..14022098 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1731del (p.Arg576_Tyr577insTer) deletion Xeroderma pigmentosum, group F [RCV000651478] Chr16:13935663 [GRCh38]
Chr16:14029520 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV000651476] Chr16:13935197 [GRCh38]
Chr16:14029054 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) single nucleotide variant Xeroderma pigmentosum [RCV002257912]|Xeroderma pigmentosum, group F [RCV000651475] Chr16:13935565 [GRCh38]
Chr16:14029422 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV000651474] Chr16:13930792 [GRCh38]
Chr16:14024649 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.714G>A (p.Lys238=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000651473] Chr16:13928157 [GRCh38]
Chr16:14022014 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.260G>A (p.Arg87His) single nucleotide variant Inborn genetic diseases [RCV002531974]|Xeroderma pigmentosum, group F [RCV000651472] Chr16:13922083 [GRCh38]
Chr16:14015940 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) single nucleotide variant Xeroderma pigmentosum, group F [RCV000651471] Chr16:13948187 [GRCh38]
Chr16:14042044 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000558977] Chr16:13937853 [GRCh38]
Chr16:14031710 [GRCh37]
Chr16:16p13.12		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_005236.3(ERCC4):c.129G>A (p.Arg43=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003790997] Chr16:13920294 [GRCh38]
Chr16:14014151 [GRCh37]
Chr16:16p13.12		 likely benign
GRCh37/hg19 16p13.13-13.12(chr16:12007434-14781381)x1 copy number loss not provided [RCV000683763] Chr16:12007434..14781381 [GRCh37]
Chr16:16p13.13-13.12		 uncertain significance
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) single nucleotide variant Inborn genetic diseases [RCV002536360]|Xeroderma pigmentosum [RCV002259009]|Xeroderma pigmentosum, group F [RCV000702604]|Xeroderma pigmentosum, group F [RCV000989537]|not provided [RCV001785705]|not specified [RCV001816729] Chr16:13948273 [GRCh38]
Chr16:14042130 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV000686055] Chr16:13926585 [GRCh38]
Chr16:14020442 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV000695372] Chr16:13932228 [GRCh38]
Chr16:14026085 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) single nucleotide variant Inborn genetic diseases [RCV002547152]|Xeroderma pigmentosum, group F [RCV000690508] Chr16:13947884 [GRCh38]
Chr16:14041741 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.19G>A (p.Ala7Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV000688763] Chr16:13920184 [GRCh38]
Chr16:14014041 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) single nucleotide variant Xeroderma pigmentosum [RCV002259070]|Xeroderma pigmentosum, group F [RCV001043126]|not provided [RCV003238281] Chr16:13935551 [GRCh38]
Chr16:14029408 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.12(chr16:13915807-14072099)x1 copy number loss not provided [RCV000739059] Chr16:13915807..14072099 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1103-90T>C single nucleotide variant not provided [RCV001612323] Chr16:13934102 [GRCh38]
Chr16:14027959 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.207+49G>A single nucleotide variant not provided [RCV001533916] Chr16:13920421 [GRCh38]
Chr16:14014278 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1213+220G>A single nucleotide variant not provided [RCV001535270] Chr16:13934522 [GRCh38]
Chr16:14028379 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.946A>G (p.Thr316Ala) single nucleotide variant Inborn genetic diseases [RCV003243948] Chr16:13930863 [GRCh38]
Chr16:14024720 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV001068176] Chr16:13932202 [GRCh38]
Chr16:14026059 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.208-3T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV001044533] Chr16:13922028 [GRCh38]
Chr16:14015885 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.109C>T (p.Arg37Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001066566]|not provided [RCV003238298] Chr16:13920274 [GRCh38]
Chr16:14014131 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) single nucleotide variant Xeroderma pigmentosum [RCV002258014]|Xeroderma pigmentosum, group F [RCV002064590]|not provided [RCV003424400] Chr16:13948113 [GRCh38]
Chr16:14041970 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) single nucleotide variant ERCC4-related condition [RCV003938256]|Ovarian cancer [RCV003153877]|Xeroderma pigmentosum [RCV002259039]|Xeroderma pigmentosum, group F [RCV000864380]|Xeroderma pigmentosum, group F [RCV000989536]|not provided [RCV001358163] Chr16:13948243 [GRCh38]
Chr16:14042100 [GRCh37]
Chr16:16p13.12		 benign|likely benign
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV001058309] Chr16:13935616 [GRCh38]
Chr16:14029473 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001062344] Chr16:13948184 [GRCh38]
Chr16:14042041 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.26G>C (p.Arg9Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV001059205] Chr16:13920191 [GRCh38]
Chr16:14014048 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.580_584+1del deletion Xeroderma pigmentosum, group F [RCV001042569]|not provided [RCV001531225]|not specified [RCV001819754] Chr16:13926750..13926755 [GRCh38]
Chr16:14020607..14020612 [GRCh37]
Chr16:16p13.12		 likely pathogenic|uncertain significance
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001036389] Chr16:13947710 [GRCh38]
Chr16:14041567 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.388+1164_792+795del deletion Hutchinson-Gilford syndrome [RCV001034543]|XFE progeroid syndrome [RCV000766209]|not provided [RCV001194774] Chr16:13923372..13929027 [GRCh38]
Chr16:14017229..14022884 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002538964] Chr16:13935201 [GRCh38]
Chr16:14029058 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.534G>T (p.Val178=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003768673] Chr16:13926706 [GRCh38]
Chr16:14020563 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000862335] Chr16:13948296 [GRCh38]
Chr16:14042153 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001858551] Chr16:13935229 [GRCh38]
Chr16:14029086 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1811+10A>G single nucleotide variant not provided [RCV000903378] Chr16:13935753 [GRCh38]
Chr16:14029610 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.290G>A (p.Arg97His) single nucleotide variant Inborn genetic diseases [RCV003270292] Chr16:13922113 [GRCh38]
Chr16:14015970 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) single nucleotide variant Xeroderma pigmentosum [RCV002257965]|Xeroderma pigmentosum, group F [RCV000802491]|Xeroderma pigmentosum, group F [RCV002477838]|not specified [RCV001816865] Chr16:13947782 [GRCh38]
Chr16:14041639 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV000800877] Chr16:13948199 [GRCh38]
Chr16:14042056 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.208-6A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001503287] Chr16:13922025 [GRCh38]
Chr16:14015882 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV000822020]|not provided [RCV001194781] Chr16:13947765 [GRCh38]
Chr16:14041622 [GRCh37]
Chr16:16p13.12		 pathogenic|uncertain significance
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) single nucleotide variant Fanconi anemia complementation group Q [RCV001788354]|Inborn genetic diseases [RCV002537142]|Xeroderma pigmentosum, group F [RCV000802175] Chr16:13922080 [GRCh38]
Chr16:14015937 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu) single nucleotide variant Ovarian cancer [RCV003153866]|Xeroderma pigmentosum, group F [RCV000820566] Chr16:13935719 [GRCh38]
Chr16:14029576 [GRCh37]
Chr16:16p13.12		 likely pathogenic|uncertain significance
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) single nucleotide variant Xeroderma pigmentosum, group F [RCV000815544] Chr16:13947773 [GRCh38]
Chr16:14041630 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) single nucleotide variant Inborn genetic diseases [RCV003353046]|Ovarian cancer [RCV003153852]|Xeroderma pigmentosum, group F [RCV000812059] Chr16:13948019 [GRCh38]
Chr16:14041876 [GRCh37]
Chr16:16p13.12		 benign|uncertain significance
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV000809426] Chr16:13935613 [GRCh38]
Chr16:14029470 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2712C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001117980] Chr16:13951059 [GRCh38]
Chr16:14044916 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2539A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001116528] Chr16:13950886 [GRCh38]
Chr16:14044743 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV000812329] Chr16:13928233 [GRCh38]
Chr16:14022090 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3911C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001116635] Chr16:13952258 [GRCh38]
Chr16:14046115 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.*2710C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001117979] Chr16:13951057 [GRCh38]
Chr16:14044914 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2849G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001117984] Chr16:13951196 [GRCh38]
Chr16:14045053 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1056A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001116423] Chr16:13949403 [GRCh38]
Chr16:14043260 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.*1981C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001119431] Chr16:13950328 [GRCh38]
Chr16:14044185 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.367A>G (p.Ile123Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001117538] Chr16:13922190 [GRCh38]
Chr16:14016047 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.10:g.(?_13920156)_(13948357_?)del deletion Xeroderma pigmentosum, group F [RCV000819225] Chr16:13920156..13948357 [GRCh38]
Chr16:14014013..14042214 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) single nucleotide variant Inborn genetic diseases [RCV002537015]|Xeroderma pigmentosum, group F [RCV000795980]|Xeroderma pigmentosum, group F [RCV001270126]|not provided [RCV000999524] Chr16:13948321 [GRCh38]
Chr16:14042178 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) single nucleotide variant Fanconi anemia complementation group Q [RCV001294110]|Xeroderma pigmentosum, group F [RCV000807809] Chr16:13930715 [GRCh38]
Chr16:14024572 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1347C>A (p.Val449=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001425092] Chr16:13935279 [GRCh38]
Chr16:14029136 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV000800130]|Xeroderma pigmentosum, group F [RCV002487687]|not provided [RCV003144614] Chr16:13948199 [GRCh38]
Chr16:14042056 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) single nucleotide variant Inborn genetic diseases [RCV002534657]|Xeroderma pigmentosum, group F [RCV000800805]|Xeroderma pigmentosum, group F [RCV002495066]|not provided [RCV003238225]|not specified [RCV001816859] Chr16:13928146 [GRCh38]
Chr16:14022003 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV000809506] Chr16:13947891 [GRCh38]
Chr16:14041748 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.10:g.(?_13821951)_(13937868_?)dup duplication Xeroderma pigmentosum, group F [RCV001031143] Chr16:13915808..14031725 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2572C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001116529] Chr16:13950919 [GRCh38]
Chr16:14044776 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2744T>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001117981] Chr16:13951091 [GRCh38]
Chr16:14044948 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.540_541del (p.Arg180fs) microsatellite not provided [RCV001194777] Chr16:13926710..13926711 [GRCh38]
Chr16:14020567..14020568 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.584+1G>A single nucleotide variant not provided [RCV001194778] Chr16:13926757 [GRCh38]
Chr16:14020614 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV001117658]|Xeroderma pigmentosum, group F [RCV002069900]|Xeroderma pigmentosum, group F [RCV002491367] Chr16:13935274 [GRCh38]
Chr16:14029131 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001119238]|Xeroderma pigmentosum, group F [RCV002556538] Chr16:13935672 [GRCh38]
Chr16:14029529 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*411C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001119325] Chr16:13948758 [GRCh38]
Chr16:14042615 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.12(chr16:13108953-14168353)x3 copy number gain not provided [RCV000849183] Chr16:13108953..14168353 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1102+36dup duplication Xeroderma pigmentosum, group F [RCV000989532] Chr16:13932315..13932316 [GRCh38]
Chr16:14026172..14026173 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) single nucleotide variant Fanconi anemia complementation group Q [RCV001294210]|Xeroderma pigmentosum, group F [RCV001237489] Chr16:13932174 [GRCh38]
Chr16:14026031 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr) single nucleotide variant Inborn genetic diseases [RCV002562566]|Xeroderma pigmentosum, group F [RCV001222762] Chr16:13948216 [GRCh38]
Chr16:14042073 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV001216191] Chr16:13948171 [GRCh38]
Chr16:14042028 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001217410] Chr16:13935580 [GRCh38]
Chr16:14029437 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001214784] Chr16:13934203 [GRCh38]
Chr16:14028060 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001221247] Chr16:13926656 [GRCh38]
Chr16:14020513 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys) single nucleotide variant Spastic ataxia [RCV001644951]|Xeroderma pigmentosum, group F [RCV001211525] Chr16:13947844 [GRCh38]
Chr16:14041701 [GRCh37]
Chr16:16p13.12		 pathogenic|uncertain significance
NM_005236.3(ERCC4):c.4G>C (p.Glu2Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV001219171] Chr16:13920169 [GRCh38]
Chr16:14014026 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001213577] Chr16:13948142 [GRCh38]
Chr16:14041999 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.553C>A (p.Leu185Ile) single nucleotide variant Inborn genetic diseases [RCV003249746] Chr16:13926725 [GRCh38]
Chr16:14020582 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) single nucleotide variant Xeroderma pigmentosum, group F [RCV001119141]|Xeroderma pigmentosum, group F [RCV002481776]|not provided [RCV000996214] Chr16:13926645 [GRCh38]
Chr16:14020502 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2017+3G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001245969] Chr16:13944838 [GRCh38]
Chr16:14038695 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3230C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001121518] Chr16:13951577 [GRCh38]
Chr16:14045434 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) single nucleotide variant ERCC4-related condition [RCV003898110]|Xeroderma pigmentosum, group F [RCV001116323]|Xeroderma pigmentosum, group F [RCV002558148] Chr16:13948110 [GRCh38]
Chr16:14041967 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.*1256G>C single nucleotide variant Xeroderma pigmentosum, group F [RCV001116424] Chr16:13949603 [GRCh38]
Chr16:14043460 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*218A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001119324] Chr16:13948565 [GRCh38]
Chr16:14042422 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.793-69G>T single nucleotide variant not provided [RCV001596543] Chr16:13930641 [GRCh38]
Chr16:14024498 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1812-103G>A single nucleotide variant not provided [RCV001659289] Chr16:13937663 [GRCh38]
Chr16:14031520 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1102+307G>A single nucleotide variant not provided [RCV001692837] Chr16:13932592 [GRCh38]
Chr16:14026449 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1905-35T>C single nucleotide variant Fanconi anemia complementation group Q [RCV001661295]|XFE progeroid syndrome [RCV001661293]|Xeroderma pigmentosum, group F [RCV001661294]|not provided [RCV001676070] Chr16:13944688 [GRCh38]
Chr16:14038545 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1905-28G>A single nucleotide variant Fanconi anemia complementation group Q [RCV001658329]|XFE progeroid syndrome [RCV001658327]|Xeroderma pigmentosum, group F [RCV001658328]|not provided [RCV001611881] Chr16:13944695 [GRCh38]
Chr16:14038552 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.208-311C>G single nucleotide variant not provided [RCV001639899] Chr16:13921720 [GRCh38]
Chr16:14015577 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.974-72A>G single nucleotide variant not provided [RCV001557891] Chr16:13932085 [GRCh38]
Chr16:14025942 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1905-215_1905-213del microsatellite not provided [RCV001687592] Chr16:13944504..13944506 [GRCh38]
Chr16:14038361..14038363 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.974-122C>A single nucleotide variant not provided [RCV001609330] Chr16:13932035 [GRCh38]
Chr16:14025892 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) single nucleotide variant Xeroderma pigmentosum [RCV002258003]|Xeroderma pigmentosum, group F [RCV000861402]|not provided [RCV003413672] Chr16:13928181 [GRCh38]
Chr16:14022038 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2118T>C (p.Ile706=) single nucleotide variant not provided [RCV000900708] Chr16:13947714 [GRCh38]
Chr16:14041571 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003768664] Chr16:13935363 [GRCh38]
Chr16:14029220 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002064432] Chr16:13948071 [GRCh38]
Chr16:14041928 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000908879] Chr16:13935486 [GRCh38]
Chr16:14029343 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2424A>G (p.Ala808=) single nucleotide variant not provided [RCV000933447] Chr16:13948020 [GRCh38]
Chr16:14041877 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) single nucleotide variant Fanconi anemia complementation group Q [RCV001292967]|Inborn genetic diseases [RCV002536230]|Xeroderma pigmentosum, group F [RCV000862022] Chr16:13926675 [GRCh38]
Chr16:14020532 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1201C>T (p.Leu401Phe) single nucleotide variant Xeroderma pigmentosum, group F [RCV001242009]|not provided [RCV003238330] Chr16:13934290 [GRCh38]
Chr16:14028147 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001207464] Chr16:13948217 [GRCh38]
Chr16:14042074 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001226220] Chr16:13947697 [GRCh38]
Chr16:14041554 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs) deletion Xeroderma pigmentosum, group F [RCV001239295] Chr16:13937833..13937836 [GRCh38]
Chr16:14031690..14031693 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001044150] Chr16:13935623 [GRCh38]
Chr16:14029480 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV001240695] Chr16:13930726 [GRCh38]
Chr16:14024583 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV001227574] Chr16:13935296 [GRCh38]
Chr16:14029153 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001045812] Chr16:13947772 [GRCh38]
Chr16:14041629 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1917C>A (p.Ser639Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV001121235] Chr16:13944735 [GRCh38]
Chr16:14038592 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2065C>T (p.Arg689Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001121236] Chr16:13947661 [GRCh38]
Chr16:14041518 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001121238]|Xeroderma pigmentosum, group F [RCV001312489] Chr16:13947774 [GRCh38]
Chr16:14041631 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.924T>C (p.Asn308=) single nucleotide variant Xeroderma pigmentosum, group F [RCV000913639] Chr16:13930841 [GRCh38]
Chr16:14024698 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1213+214G>A single nucleotide variant not provided [RCV001556957] Chr16:13934516 [GRCh38]
Chr16:14028373 [GRCh37]
Chr16:16p13.12		 likely benign
NC_000016.10:g.13919990C>G single nucleotide variant not provided [RCV001565424] Chr16:13919990 [GRCh38]
Chr16:14013847 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) single nucleotide variant Xeroderma pigmentosum [RCV002258699]|Xeroderma pigmentosum, group F [RCV003095851] Chr16:13947796 [GRCh38]
Chr16:14041653 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1905-140A>T single nucleotide variant not provided [RCV001566544] Chr16:13944583 [GRCh38]
Chr16:14038440 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2017+223G>A single nucleotide variant not provided [RCV001715982] Chr16:13945058 [GRCh38]
Chr16:14038915 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.389-200G>A single nucleotide variant not provided [RCV001608683] Chr16:13926361 [GRCh38]
Chr16:14020218 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1102+219G>A single nucleotide variant not provided [RCV001675264] Chr16:13932504 [GRCh38]
Chr16:14026361 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.974-303T>G single nucleotide variant not provided [RCV001686476] Chr16:13931854 [GRCh38]
Chr16:14025711 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1103-311C>G single nucleotide variant not provided [RCV001635906] Chr16:13933881 [GRCh38]
Chr16:14027738 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1905-241T>C single nucleotide variant not provided [RCV001608182] Chr16:13944482 [GRCh38]
Chr16:14038339 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*1288G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001117872] Chr16:13949635 [GRCh38]
Chr16:14043492 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1635G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001117876] Chr16:13949982 [GRCh38]
Chr16:14043839 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV001071245]|Xeroderma pigmentosum, group F [RCV002497483] Chr16:13930851 [GRCh38]
Chr16:14024708 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3965G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001118077] Chr16:13952312 [GRCh38]
Chr16:14046169 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) single nucleotide variant Xeroderma pigmentosum, group F [RCV001863072]|not provided [RCV001194779] Chr16:13930717 [GRCh38]
Chr16:14024574 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3282C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001121519] Chr16:13951629 [GRCh38]
Chr16:14045486 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3443G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001121521] Chr16:13951790 [GRCh38]
Chr16:14045647 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*630C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001121343] Chr16:13948977 [GRCh38]
Chr16:14042834 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3319G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001121520] Chr16:13951666 [GRCh38]
Chr16:14045523 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*712A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001121345] Chr16:13949059 [GRCh38]
Chr16:14042916 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2072T>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001121420] Chr16:13950419 [GRCh38]
Chr16:14044276 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV001068120] Chr16:13947808 [GRCh38]
Chr16:14041665 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2291del (p.Ser764fs) deletion not provided [RCV001194782] Chr16:13947887 [GRCh38]
Chr16:14041744 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.389-36C>G single nucleotide variant not provided [RCV001681899] Chr16:13926525 [GRCh38]
Chr16:14020382 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1904+190G>A single nucleotide variant not provided [RCV001588726] Chr16:13938048 [GRCh38]
Chr16:14031905 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV001071450]|not specified [RCV001819796] Chr16:13947886 [GRCh38]
Chr16:14041743 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.793-160C>T single nucleotide variant not provided [RCV001707436] Chr16:13930550 [GRCh38]
Chr16:14024407 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1103-317C>T single nucleotide variant not provided [RCV001692889] Chr16:13933875 [GRCh38]
Chr16:14027732 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1081dup (p.Met361fs) duplication not provided [RCV001531226] Chr16:13932258..13932259 [GRCh38]
Chr16:14026115..14026116 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.1102+237C>G single nucleotide variant not provided [RCV001609405] Chr16:13932522 [GRCh38]
Chr16:14026379 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.389-206C>T single nucleotide variant not provided [RCV001587051] Chr16:13926355 [GRCh38]
Chr16:14020212 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.*2463C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001116527] Chr16:13950810 [GRCh38]
Chr16:14044667 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV001231920] Chr16:13948334 [GRCh38]
Chr16:14042191 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.32C>T (p.Ala11Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001220164] Chr16:13920197 [GRCh38]
Chr16:14014054 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) single nucleotide variant Xeroderma pigmentosum, group F [RCV001117660]|Xeroderma pigmentosum, group F [RCV002497527] Chr16:13935420 [GRCh38]
Chr16:14029277 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1353G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001117873] Chr16:13949700 [GRCh38]
Chr16:14043557 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.*2816A>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001117982] Chr16:13951163 [GRCh38]
Chr16:14045020 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.37G>T (p.Ala13Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001056526] Chr16:13920202 [GRCh38]
Chr16:14014059 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser) single nucleotide variant Inborn genetic diseases [RCV002554430]|Xeroderma pigmentosum, group F [RCV001060645] Chr16:13948130 [GRCh38]
Chr16:14041987 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1478T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV001117875] Chr16:13949825 [GRCh38]
Chr16:14043682 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2825A>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001117983] Chr16:13951172 [GRCh38]
Chr16:14045029 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.122C>G (p.Ala41Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV001201434] Chr16:13920287 [GRCh38]
Chr16:14014144 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) single nucleotide variant Fanconi anemia complementation group Q [RCV001292797]|Xeroderma pigmentosum [RCV002259076]|Xeroderma pigmentosum, group F [RCV001061136]|Xeroderma pigmentosum, group F [RCV001119236] Chr16:13935513 [GRCh38]
Chr16:14029370 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV002561023]|not provided [RCV001194775] Chr16:13926620 [GRCh38]
Chr16:14020477 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe) single nucleotide variant not provided [RCV001194783] Chr16:13947953 [GRCh38]
Chr16:14041810 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.793-2A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001212995] Chr16:13930708 [GRCh38]
Chr16:14024565 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.516_517del (p.Thr173fs) deletion not provided [RCV001194776] Chr16:13926687..13926688 [GRCh38]
Chr16:14020544..14020545 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.*1915A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001119430] Chr16:13950262 [GRCh38]
Chr16:14044119 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2892C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001119517] Chr16:13951239 [GRCh38]
Chr16:14045096 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.12G>A (p.Gly4=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001121018] Chr16:13920177 [GRCh38]
Chr16:14014034 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.728A>G (p.His243Arg) single nucleotide variant Inborn genetic diseases [RCV002556605]|Xeroderma pigmentosum, group F [RCV001121127] Chr16:13928171 [GRCh38]
Chr16:14022028 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*2415A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001121421] Chr16:13950762 [GRCh38]
Chr16:14044619 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.389-9C>A single nucleotide variant ERCC4-related condition [RCV003983826]|Xeroderma pigmentosum, group F [RCV001039603] Chr16:13926552 [GRCh38]
Chr16:14020409 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1861A>G (p.Thr621Ala) single nucleotide variant not provided [RCV001194780] Chr16:13937815 [GRCh38]
Chr16:14031672 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) single nucleotide variant Xeroderma pigmentosum, group F [RCV001063937]|not provided [RCV003145324] Chr16:13947698 [GRCh38]
Chr16:14041555 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV001063955] Chr16:13928194 [GRCh38]
Chr16:14022051 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001071419] Chr16:13948331 [GRCh38]
Chr16:14042188 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*701A>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001121344] Chr16:13949048 [GRCh38]
Chr16:14042905 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.*106A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001117768] Chr16:13948453 [GRCh38]
Chr16:14042310 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*1472C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001117874] Chr16:13949819 [GRCh38]
Chr16:14043676 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.*1676G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001117877] Chr16:13950023 [GRCh38]
Chr16:14043880 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002071856]|not provided [RCV001200402] Chr16:13937814 [GRCh38]
Chr16:14031671 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr) single nucleotide variant Inborn genetic diseases [RCV002570368]|Xeroderma pigmentosum, group F [RCV001248130] Chr16:13935266 [GRCh38]
Chr16:14029123 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV001055993] Chr16:13935236 [GRCh38]
Chr16:14029093 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001056707] Chr16:13948070 [GRCh38]
Chr16:14041927 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.145C>T (p.Leu49Phe) single nucleotide variant Xeroderma pigmentosum [RCV002258137]|Xeroderma pigmentosum, group F [RCV001116100]|Xeroderma pigmentosum, group F [RCV001359252]|not provided [RCV001759882] Chr16:13920310 [GRCh38]
Chr16:14014167 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.973+11A>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001121129]|Xeroderma pigmentosum, group F [RCV002069968]|not provided [RCV003238307]|not specified [RCV001819831] Chr16:13930901 [GRCh38]
Chr16:14024758 [GRCh37]
Chr16:16p13.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005236.3(ERCC4):c.*2455G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001116526] Chr16:13950802 [GRCh38]
Chr16:14044659 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.*3727G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001116634] Chr16:13952074 [GRCh38]
Chr16:14045931 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV001038391] Chr16:13926671 [GRCh38]
Chr16:14020528 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) single nucleotide variant Fanconi anemia complementation group Q [RCV001197035]|Xeroderma pigmentosum [RCV002258151]|Xeroderma pigmentosum, group F [RCV002559253] Chr16:13944797 [GRCh38]
Chr16:14038654 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His) single nucleotide variant Microcephaly [RCV001252767]|Xeroderma pigmentosum, group F [RCV002549246] Chr16:13947815 [GRCh38]
Chr16:14041672 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.10:g.13920136T>A single nucleotide variant not provided [RCV001663035] Chr16:13920136 [GRCh38]
Chr16:14013993 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1069dup (p.Ile357fs) duplication not provided [RCV001268774] Chr16:13932246..13932247 [GRCh38]
Chr16:14026103..14026104 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter) single nucleotide variant Fanconi anemia complementation group Q [RCV001554280] Chr16:13928059 [GRCh38]
Chr16:14021916 [GRCh37]
Chr16:16p13.12		 likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) single nucleotide variant Xeroderma pigmentosum [RCV002258186]|Xeroderma pigmentosum, group F [RCV001300231] Chr16:13935671 [GRCh38]
Chr16:14029528 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) single nucleotide variant Ovarian cancer [RCV003153976]|Xeroderma pigmentosum, group F [RCV001300359] Chr16:13935323 [GRCh38]
Chr16:14029180 [GRCh37]
Chr16:16p13.12		 benign|uncertain significance
NM_005236.3(ERCC4):c.130C>T (p.Leu44Phe) single nucleotide variant Xeroderma pigmentosum, group F [RCV001298474] Chr16:13920295 [GRCh38]
Chr16:14014152 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) single nucleotide variant Fanconi anemia complementation group Q [RCV003154003]|Xeroderma pigmentosum, group F [RCV001341080] Chr16:13935268 [GRCh38]
Chr16:14029125 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.514G>C (p.Asp172His) single nucleotide variant Xeroderma pigmentosum, group F [RCV001342660] Chr16:13926686 [GRCh38]
Chr16:14020543 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.207+5G>C single nucleotide variant Fanconi anemia complementation group Q [RCV001292864] Chr16:13920377 [GRCh38]
Chr16:14014234 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=) single nucleotide variant ERCC4-related condition [RCV003898294]|Xeroderma pigmentosum, group F [RCV001306009] Chr16:13948026 [GRCh38]
Chr16:14041883 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His) single nucleotide variant Fanconi anemia complementation group Q [RCV001294108] Chr16:13947845 [GRCh38]
Chr16:14041702 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.124G>A (p.Asp42Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV001349621] Chr16:13920289 [GRCh38]
Chr16:14014146 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001306348] Chr16:13930830 [GRCh38]
Chr16:14024687 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001337796] Chr16:13944793 [GRCh38]
Chr16:14038650 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) single nucleotide variant Inborn genetic diseases [RCV002545088]|Xeroderma pigmentosum [RCV002258194]|Xeroderma pigmentosum, group F [RCV001316070]|not provided [RCV003145559] Chr16:13932285 [GRCh38]
Chr16:14026142 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.42G>A (p.Pro14=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001412669] Chr16:13920207 [GRCh38]
Chr16:14014064 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) single nucleotide variant Xeroderma pigmentosum, group F [RCV001374207] Chr16:13935416 [GRCh38]
Chr16:14029273 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.132C>T (p.Leu44=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001433010] Chr16:13920297 [GRCh38]
Chr16:14014154 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001307500] Chr16:13922149 [GRCh38]
Chr16:14016006 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV003771041]|not provided [RCV001355944] Chr16:13922079 [GRCh38]
Chr16:14015936 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV001348401] Chr16:13926597 [GRCh38]
Chr16:14020454 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1845G>C (p.Glu615Asp) single nucleotide variant not provided [RCV001356629] Chr16:13937799 [GRCh38]
Chr16:14031656 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001370379] Chr16:13922082 [GRCh38]
Chr16:14015939 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV001360826] Chr16:13937825 [GRCh38]
Chr16:14031682 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys) single nucleotide variant XFE progeroid syndrome [RCV001391663]|Xeroderma pigmentosum, group F [RCV001849515] Chr16:13926644 [GRCh38]
Chr16:14020501 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile) single nucleotide variant Xeroderma pigmentosum, group F [RCV001361039] Chr16:13932210 [GRCh38]
Chr16:14026067 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001313756] Chr16:13937824 [GRCh38]
Chr16:14031681 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV001303533] Chr16:13935175 [GRCh38]
Chr16:14029032 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001340828]|not provided [RCV003145585] Chr16:13935481 [GRCh38]
Chr16:14029338 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) single nucleotide variant Xeroderma pigmentosum [RCV002258183]|Xeroderma pigmentosum, group F [RCV001294384]|not specified [RCV001819982] Chr16:13935734 [GRCh38]
Chr16:14029591 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001325597] Chr16:13947904 [GRCh38]
Chr16:14041761 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001307701] Chr16:13932273 [GRCh38]
Chr16:14026130 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.9:g.(?_13915808)_(14031725_?)dup duplication Xeroderma pigmentosum, group F [RCV001304852] Chr16:13915808..14031725 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001345494] Chr16:13928155 [GRCh38]
Chr16:14022012 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) single nucleotide variant Inborn genetic diseases [RCV002547729]|Xeroderma pigmentosum, group F [RCV001359826] Chr16:13935731 [GRCh38]
Chr16:14029588 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001304992] Chr16:13930717 [GRCh38]
Chr16:14024574 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) insertion Xeroderma pigmentosum, group F [RCV003772149]|not provided [RCV001781048] Chr16:13934285..13934286 [GRCh38]
Chr16:14028142..14028143 [GRCh37]
Chr16:16p13.12		 pathogenic|likely pathogenic
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001367325] Chr16:13932214 [GRCh38]
Chr16:14026071 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) single nucleotide variant Fanconi anemia complementation group Q [RCV001788469]|XFE progeroid syndrome [RCV001391664]|Xeroderma pigmentosum, group F [RCV001849516]|Xeroderma pigmentosum, group F [RCV003771270] Chr16:13947683 [GRCh38]
Chr16:14041540 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) single nucleotide variant Inborn genetic diseases [RCV002548497]|Xeroderma pigmentosum, group F [RCV001871916]|not provided [RCV001354216] Chr16:13935476 [GRCh38]
Chr16:14029333 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001371930] Chr16:13928225 [GRCh38]
Chr16:14022082 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001369955] Chr16:13930716 [GRCh38]
Chr16:14024573 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV002547591]|not provided [RCV001354691] Chr16:13922109 [GRCh38]
Chr16:14015966 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001348135] Chr16:13926576 [GRCh38]
Chr16:14020433 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001395285] Chr16:13947771 [GRCh38]
Chr16:14041628 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2421T>C (p.His807=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001467063] Chr16:13948017 [GRCh38]
Chr16:14041874 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001474103] Chr16:13948044 [GRCh38]
Chr16:14041901 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001405491] Chr16:13948032 [GRCh38]
Chr16:14041889 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1102+7T>A single nucleotide variant Xeroderma pigmentosum, group F [RCV001424190] Chr16:13932292 [GRCh38]
Chr16:14026149 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2604C>T (p.His868=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002568893]|not provided [RCV001531227] Chr16:13948200 [GRCh38]
Chr16:14042057 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV001389442] Chr16:13920187 [GRCh38]
Chr16:14014044 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001449432] Chr16:13947990 [GRCh38]
Chr16:14041847 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001444776] Chr16:13948074 [GRCh38]
Chr16:14041931 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001444794] Chr16:13947861 [GRCh38]
Chr16:14041718 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) single nucleotide variant Xeroderma pigmentosum [RCV002258256]|Xeroderma pigmentosum, group F [RCV001437611]|not specified [RCV001820131] Chr16:13926709 [GRCh38]
Chr16:14020566 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001408598]|Xeroderma pigmentosum, group F [RCV002499877] Chr16:13937784 [GRCh38]
Chr16:14031641 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001432241] Chr16:13947720 [GRCh38]
Chr16:14041577 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001445818] Chr16:13944816 [GRCh38]
Chr16:14038673 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001485623] Chr16:13947819 [GRCh38]
Chr16:14041676 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1904+156A>C single nucleotide variant not provided [RCV001686013] Chr16:13938014 [GRCh38]
Chr16:14031871 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001490164] Chr16:13935630 [GRCh38]
Chr16:14029487 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1811+234G>A single nucleotide variant not provided [RCV001687011] Chr16:13935977 [GRCh38]
Chr16:14029834 [GRCh37]
Chr16:16p13.12		 benign
NC_000016.10:g.13919809A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV001510401] Chr16:13919809 [GRCh38]
Chr16:14013666 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001465921] Chr16:13935252 [GRCh38]
Chr16:14029109 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2607C>T (p.His869=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001453717]|not specified [RCV001820144] Chr16:13948203 [GRCh38]
Chr16:14042060 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001402857] Chr16:13935190 [GRCh38]
Chr16:14029047 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1971A>G (p.Val657=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001482729] Chr16:13944789 [GRCh38]
Chr16:14038646 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2619C>T (p.Ile873=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001503215] Chr16:13948215 [GRCh38]
Chr16:14042072 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.816T>A (p.Pro272=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001432018] Chr16:13930733 [GRCh38]
Chr16:14024590 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1214-4T>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001466674] Chr16:13935142 [GRCh38]
Chr16:14028999 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.15G>A (p.Gln5=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001485566] Chr16:13920180 [GRCh38]
Chr16:14014037 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1102+1G>T single nucleotide variant Xeroderma pigmentosum [RCV003226467]|Xeroderma pigmentosum, group F [RCV001377820] Chr16:13932286 [GRCh38]
Chr16:14026143 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.1102+20C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV003108563] Chr16:13932305 [GRCh38]
Chr16:14026162 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV001789790]|not provided [RCV001755281] Chr16:13935425 [GRCh38]
Chr16:14029282 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1285G>A (p.Glu429Lys) single nucleotide variant Xeroderma pigmentosum [RCV002258695] Chr16:13935217 [GRCh38]
Chr16:14029074 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2078G>T (p.Ser693Ile) single nucleotide variant Xeroderma pigmentosum [RCV002259277] Chr16:13947674 [GRCh38]
Chr16:14041531 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del deletion Xeroderma pigmentosum [RCV002240101] Chr16:14038579..14038693 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) single nucleotide variant Xeroderma pigmentosum [RCV002258697]|Xeroderma pigmentosum, group F [RCV003774793]|not specified [RCV003235693] Chr16:13937785 [GRCh38]
Chr16:14031642 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1788G>T (p.Ala596=) single nucleotide variant Xeroderma pigmentosum [RCV002258696] Chr16:13935720 [GRCh38]
Chr16:14029577 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.98T>C (p.Val33Ala) single nucleotide variant Xeroderma pigmentosum [RCV002258703] Chr16:13920263 [GRCh38]
Chr16:14014120 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2017+1G>C single nucleotide variant Xeroderma pigmentosum [RCV002259275] Chr16:13944836 [GRCh38]
Chr16:14038693 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.2238C>G (p.Ile746Met) single nucleotide variant not provided [RCV003238128] Chr16:13947834 [GRCh38]
Chr16:14041691 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.207+13T>A single nucleotide variant Xeroderma pigmentosum, group F [RCV003812667] Chr16:13920385 [GRCh38]
Chr16:14014242 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV003772105]|not provided [RCV003238130] Chr16:13944794 [GRCh38]
Chr16:14038651 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) single nucleotide variant Xeroderma pigmentosum, group F [RCV001885122]|not provided [RCV003238131] Chr16:13935587 [GRCh38]
Chr16:14029444 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1597G>A (p.Glu533Lys) single nucleotide variant not provided [RCV003238133] Chr16:13935529 [GRCh38]
Chr16:14029386 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001774849] Chr16:13920167 [GRCh38]
Chr16:14014024 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.127C>T (p.Arg43Trp) single nucleotide variant Fanconi anemia complementation group Q [RCV001788945] Chr16:13920292 [GRCh38]
Chr16:14014149 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) single nucleotide variant Xeroderma pigmentosum, group F [RCV002034512]|not provided [RCV001776457] Chr16:13935507 [GRCh38]
Chr16:14029364 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1162T>G (p.Leu388Val) single nucleotide variant not provided [RCV003238134] Chr16:13934251 [GRCh38]
Chr16:14028108 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val) single nucleotide variant not provided [RCV003238135] Chr16:13932192 [GRCh38]
Chr16:14026049 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) single nucleotide variant Xeroderma pigmentosum, group F [RCV002541035]|not provided [RCV003238122] Chr16:13928143 [GRCh38]
Chr16:14022000 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.37G>A (p.Ala13Thr) single nucleotide variant Behavioral variant of frontotemporal dementia [RCV002508160]|Xeroderma pigmentosum, group F [RCV002541036]|not provided [RCV003238123] Chr16:13920202 [GRCh38]
Chr16:14014059 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2726T>C (p.Val909Ala) single nucleotide variant not provided [RCV003238124] Chr16:13948322 [GRCh38]
Chr16:14042179 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2339C>G (p.Ser780Cys) single nucleotide variant not provided [RCV003238125] Chr16:13947935 [GRCh38]
Chr16:14041792 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2303C>G (p.Ser768Cys) single nucleotide variant not provided [RCV003238127] Chr16:13947899 [GRCh38]
Chr16:14041756 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2323T>G (p.Leu775Val) single nucleotide variant not provided [RCV001753268] Chr16:13947919 [GRCh38]
Chr16:14041776 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.207+79G>C single nucleotide variant not provided [RCV001776930] Chr16:13920451 [GRCh38]
Chr16:14014308 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV001869789]|not provided [RCV001817844] Chr16:13926751 [GRCh38]
Chr16:14020608 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1990G>A (p.Asp664Asn) single nucleotide variant not specified [RCV001820407] Chr16:13944808 [GRCh38]
Chr16:14038665 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2744A>G (p.Lys915Arg) single nucleotide variant not specified [RCV001820567] Chr16:13948340 [GRCh38]
Chr16:14042197 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2286C>G (p.Asp762Glu) single nucleotide variant not specified [RCV001817115] Chr16:13947882 [GRCh38]
Chr16:14041739 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.715G>A (p.Glu239Lys) single nucleotide variant Abnormality of blood and blood-forming tissues [RCV001814342] Chr16:13928158 [GRCh38]
Chr16:14022015 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.450_451delinsTT (p.Leu151Phe) indel not specified [RCV001817996] Chr16:13926622..13926623 [GRCh38]
Chr16:14020479..14020480 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) single nucleotide variant Fanconi anemia complementation group Q [RCV002471168]|Inborn genetic diseases [RCV002542582]|Xeroderma pigmentosum, group F [RCV001869700]|not provided [RCV002074315]|not specified [RCV001819576] Chr16:13937807 [GRCh38]
Chr16:14031664 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.86C>T (p.Thr29Ile) single nucleotide variant not specified [RCV001820238] Chr16:13920251 [GRCh38]
Chr16:14014108 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002074332]|not specified [RCV001820410] Chr16:13926748 [GRCh38]
Chr16:14020605 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1192A>G (p.Ser398Gly) single nucleotide variant not specified [RCV001820416] Chr16:13934281 [GRCh38]
Chr16:14028138 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV001964260] Chr16:13947752 [GRCh38]
Chr16:14041609 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV001929215] Chr16:13935454 [GRCh38]
Chr16:14029311 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV002006264] Chr16:13948048 [GRCh38]
Chr16:14041905 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001909533] Chr16:13934205 [GRCh38]
Chr16:14028062 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001967608]|Xeroderma pigmentosum, group F [RCV003230289] Chr16:13935200 [GRCh38]
Chr16:14029057 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001945177] Chr16:13922200 [GRCh38]
Chr16:14016057 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV002003930] Chr16:13948215 [GRCh38]
Chr16:14042072 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV001912761] Chr16:13932172 [GRCh38]
Chr16:14026029 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001967301] Chr16:13947983 [GRCh38]
Chr16:14041840 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV002020673] Chr16:13932187 [GRCh38]
Chr16:14026044 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV001911173] Chr16:13948270 [GRCh38]
Chr16:14042127 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1905-7C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV001890453] Chr16:13944716 [GRCh38]
Chr16:14038573 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) single nucleotide variant Xeroderma pigmentosum, group F [RCV001912538] Chr16:13922199 [GRCh38]
Chr16:14016056 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.143T>A (p.Phe48Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV001895360] Chr16:13920308 [GRCh38]
Chr16:14014165 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001908288] Chr16:13935678 [GRCh38]
Chr16:14029535 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV001871279] Chr16:13947739 [GRCh38]
Chr16:14041596 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.540A>G (p.Arg180=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001890148] Chr16:13926712 [GRCh38]
Chr16:14020569 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV002008043] Chr16:13934282 [GRCh38]
Chr16:14028139 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV002005843] Chr16:13947622 [GRCh38]
Chr16:14041479 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile) single nucleotide variant Xeroderma pigmentosum, group F [RCV001968502] Chr16:13930711 [GRCh38]
Chr16:14024568 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2283T>G (p.Phe761Leu) single nucleotide variant not specified [RCV001844617] Chr16:13947879 [GRCh38]
Chr16:14041736 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001965276] Chr16:13944739 [GRCh38]
Chr16:14038596 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001962849] Chr16:13948289 [GRCh38]
Chr16:14042146 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del) deletion Xeroderma pigmentosum, group F [RCV001963720] Chr16:13935487..13935492 [GRCh38]
Chr16:14029344..14029349 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.58C>T (p.Arg20Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV002037756] Chr16:13920223 [GRCh38]
Chr16:14014080 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.207+6G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV001999589] Chr16:13920378 [GRCh38]
Chr16:14014235 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001906489] Chr16:13947856 [GRCh38]
Chr16:14041713 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001961549] Chr16:13947704 [GRCh38]
Chr16:14041561 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.541G>A (p.Val181Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV001906094] Chr16:13926713 [GRCh38]
Chr16:14020570 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV001943465] Chr16:13930740 [GRCh38]
Chr16:14024597 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV001943600] Chr16:13928114 [GRCh38]
Chr16:14021971 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.125A>G (p.Asp42Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV001930722] Chr16:13920290 [GRCh38]
Chr16:14014147 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV001937087] Chr16:13930867 [GRCh38]
Chr16:14024724 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2105G>A (p.Arg702Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV001901997] Chr16:13947701 [GRCh38]
Chr16:14041558 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1251T>A (p.Cys417Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV001919468] Chr16:13935183 [GRCh38]
Chr16:14029040 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002015265] Chr16:13944834 [GRCh38]
Chr16:14038691 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) single nucleotide variant Inborn genetic diseases [RCV002563537]|Xeroderma pigmentosum, group F [RCV002012275]|Xeroderma pigmentosum, group F [RCV002492093] Chr16:13944827 [GRCh38]
Chr16:14038684 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV001916265] Chr16:13930747 [GRCh38]
Chr16:14024604 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2723T>A (p.Val908Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV001918916] Chr16:13948319 [GRCh38]
Chr16:14042176 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV001930937] Chr16:13947725 [GRCh38]
Chr16:14041582 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe) single nucleotide variant Xeroderma pigmentosum, group F [RCV001917719] Chr16:13922073 [GRCh38]
Chr16:14015930 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001922442] Chr16:13926647 [GRCh38]
Chr16:14020504 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV002034990] Chr16:13947832 [GRCh38]
Chr16:14041689 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV002016424] Chr16:13922037 [GRCh38]
Chr16:14015894 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.137A>G (p.Tyr46Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001936424] Chr16:13920302 [GRCh38]
Chr16:14014159 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001885951] Chr16:13934299 [GRCh38]
Chr16:14028156 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV001934428] Chr16:13930787 [GRCh38]
Chr16:14024644 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=) single nucleotide variant Xeroderma pigmentosum, group F [RCV001898957] Chr16:13935552 [GRCh38]
Chr16:14029409 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001989752] Chr16:13935233 [GRCh38]
Chr16:14029090 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV001997218] Chr16:13935586 [GRCh38]
Chr16:14029443 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001924013] Chr16:13922055 [GRCh38]
Chr16:14015912 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV001982211] Chr16:13928212 [GRCh38]
Chr16:14022069 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.9:g.(?_13915808)_(14724045_?)dup duplication Xeroderma pigmentosum, group F [RCV001997616] Chr16:13915808..14724045 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001978750] Chr16:13928180 [GRCh38]
Chr16:14022037 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV002048841] Chr16:13935311 [GRCh38]
Chr16:14029168 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV001918774] Chr16:13926629 [GRCh38]
Chr16:14020486 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile) single nucleotide variant Xeroderma pigmentosum [RCV002258317]|Xeroderma pigmentosum, group F [RCV001866388] Chr16:13922169 [GRCh38]
Chr16:14016026 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV001869964]|Xeroderma pigmentosum, group F [RCV002503390] Chr16:13935509 [GRCh38]
Chr16:14029366 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.557_558del (p.Phe186fs) deletion Xeroderma pigmentosum, group F [RCV001917980] Chr16:13926726..13926727 [GRCh38]
Chr16:14020583..14020584 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1214-19T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV002210454] Chr16:13935127 [GRCh38]
Chr16:14028984 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002085698]|Xeroderma pigmentosum, group F [RCV002494172] Chr16:13947720 [GRCh38]
Chr16:14041577 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1347C>G (p.Val449=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002146989] Chr16:13935279 [GRCh38]
Chr16:14029136 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.555T>C (p.Leu185=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002084896] Chr16:13926727 [GRCh38]
Chr16:14020584 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.948G>A (p.Thr316=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002148199] Chr16:13930865 [GRCh38]
Chr16:14024722 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2169C>T (p.Cys723=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002189440] Chr16:13947765 [GRCh38]
Chr16:14041622 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.389-8C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002106599] Chr16:13926553 [GRCh38]
Chr16:14020410 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.974-8C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV002091490] Chr16:13932149 [GRCh38]
Chr16:14026006 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val) single nucleotide variant Fanconi anemia complementation group Q [RCV002244149] Chr16:13947760 [GRCh38]
Chr16:14041617 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1812-17T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV002109787] Chr16:13937749 [GRCh38]
Chr16:14031606 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2018-18C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002113402] Chr16:13947596 [GRCh38]
Chr16:14041453 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.974-17T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV002080983] Chr16:13932140 [GRCh38]
Chr16:14025997 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=) single nucleotide variant ERCC4-related condition [RCV003971066]|Xeroderma pigmentosum, group F [RCV002135195]|not provided [RCV003408145] Chr16:13935564 [GRCh38]
Chr16:14029421 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.388+13A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002116735] Chr16:13922224 [GRCh38]
Chr16:14016081 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.973+7G>A single nucleotide variant Xeroderma pigmentosum, group F [RCV002131583] Chr16:13930897 [GRCh38]
Chr16:14024754 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.974-20_974-16del deletion Xeroderma pigmentosum, group F [RCV002210313] Chr16:13932133..13932137 [GRCh38]
Chr16:14025990..14025994 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002195363] Chr16:13935690 [GRCh38]
Chr16:14029547 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002133182] Chr16:13948242 [GRCh38]
Chr16:14042099 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.705A>G (p.Ala235=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002112262] Chr16:13928148 [GRCh38]
Chr16:14022005 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.793-17T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV002093525] Chr16:13930693 [GRCh38]
Chr16:14024550 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.22C>A (p.Arg8=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002095302] Chr16:13920187 [GRCh38]
Chr16:14014044 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002078917] Chr16:13947903 [GRCh38]
Chr16:14041760 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1449A>G (p.Arg483=) single nucleotide variant not provided [RCV002211345] Chr16:13935381 [GRCh38]
Chr16:14029238 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1811+9T>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002133782] Chr16:13935752 [GRCh38]
Chr16:14029609 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2574G>A (p.Val858=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002209893] Chr16:13948170 [GRCh38]
Chr16:14042027 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002076886]|not provided [RCV003426295] Chr16:13948030 [GRCh38]
Chr16:14041887 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.69G>A (p.Val23=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002156447] Chr16:13920234 [GRCh38]
Chr16:14014091 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.178C>T (p.Leu60=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002102669] Chr16:13920343 [GRCh38]
Chr16:14014200 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1905-6C>G single nucleotide variant Xeroderma pigmentosum [RCV002258698] Chr16:13944717 [GRCh38]
Chr16:14038574 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2392C>G (p.Leu798Val) single nucleotide variant Xeroderma pigmentosum [RCV002258700] Chr16:13947988 [GRCh38]
Chr16:14041845 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002160178] Chr16:13932185 [GRCh38]
Chr16:14026042 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.207+13T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV002182530] Chr16:13920385 [GRCh38]
Chr16:14014242 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.837C>G (p.Ala279=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002176967] Chr16:13930754 [GRCh38]
Chr16:14024611 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.793-13A>T single nucleotide variant Xeroderma pigmentosum, group F [RCV002180590] Chr16:13930697 [GRCh38]
Chr16:14024554 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.1452C>A (p.Thr484=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002123317] Chr16:13935384 [GRCh38]
Chr16:14029241 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002143346] Chr16:13935720 [GRCh38]
Chr16:14029577 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.183G>A (p.Val61=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002140107] Chr16:13920348 [GRCh38]
Chr16:14014205 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002183351] Chr16:13948062 [GRCh38]
Chr16:14041919 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002123876] Chr16:13947822 [GRCh38]
Chr16:14041679 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV003110622] Chr16:13948135 [GRCh38]
Chr16:14041992 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.9:g.(?_14038570)_(14038702_?)del deletion Xeroderma pigmentosum, group F [RCV003116340] Chr16:14038570..14038702 [GRCh37]
Chr16:16p13.12		 pathogenic
NC_000016.9:g.(?_14031613)_(14031725_?)del deletion Xeroderma pigmentosum, group F [RCV003116341] Chr16:14031613..14031725 [GRCh37]
Chr16:16p13.12		 uncertain significance
NC_000016.9:g.(?_14020398)_(14022112_?)del deletion Xeroderma pigmentosum, group F [RCV003116342] Chr16:14020398..14022112 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe) indel Xeroderma pigmentosum, group F [RCV003117931] Chr16:13944741..13944742 [GRCh38]
Chr16:14038598..14038599 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.458G>A (p.Arg153His) single nucleotide variant Xeroderma pigmentosum, group F [RCV003105227] Chr16:13926630 [GRCh38]
Chr16:14020487 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.975T>G (p.Gly325=) single nucleotide variant Xeroderma pigmentosum [RCV002258701] Chr16:13932158 [GRCh38]
Chr16:14026015 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.979C>T (p.Leu327=) single nucleotide variant Xeroderma pigmentosum [RCV002258702] Chr16:13932162 [GRCh38]
Chr16:14026019 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) single nucleotide variant Xeroderma pigmentosum [RCV002258694]|Xeroderma pigmentosum, group F [RCV003774792] Chr16:13934296 [GRCh38]
Chr16:14028153 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1771C>G (p.Leu591Val) single nucleotide variant Ovarian cancer [RCV003154805] Chr16:13935703 [GRCh38]
Chr16:14029560 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV003230329] Chr16:13935594 [GRCh38]
Chr16:14029451 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe) single nucleotide variant Xeroderma pigmentosum, group F [RCV002292223] Chr16:13948190 [GRCh38]
Chr16:14042047 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV002292231] Chr16:13920359 [GRCh38]
Chr16:14014216 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys) single nucleotide variant Fanconi anemia complementation group Q [RCV002292233]|Xeroderma pigmentosum, group F [RCV003101682] Chr16:13948076 [GRCh38]
Chr16:14041933 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys) single nucleotide variant Fanconi anemia complementation group Q [RCV002292236] Chr16:13935473 [GRCh38]
Chr16:14029330 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys) single nucleotide variant Inborn genetic diseases [RCV003289502]|Xeroderma pigmentosum, group F [RCV002292249] Chr16:13935725 [GRCh38]
Chr16:14029582 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.581del (p.Pro194fs) deletion Xeroderma pigmentosum, group F [RCV002288435] Chr16:13926752 [GRCh38]
Chr16:14020609 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.187A>C (p.Asn63His) single nucleotide variant Xeroderma pigmentosum, group F [RCV003101505]|not specified [RCV002266411] Chr16:13920352 [GRCh38]
Chr16:14014209 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1554A>G (p.Ile518Met) single nucleotide variant not provided [RCV002474012] Chr16:13935486 [GRCh38]
Chr16:14029343 [GRCh37]
Chr16:16p13.12		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV002468705] Chr16:13947622 [GRCh38]
Chr16:14041479 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV003154587] Chr16:13926648 [GRCh38]
Chr16:14020505 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1469G>A (p.Arg490Gln) single nucleotide variant not specified [RCV002308525] Chr16:13935401 [GRCh38]
Chr16:14029258 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1838C>G (p.Ser613Ter) single nucleotide variant not provided [RCV002306165] Chr16:13937792 [GRCh38]
Chr16:14031649 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV002303086] Chr16:13930854 [GRCh38]
Chr16:14024711 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1214-10C>A single nucleotide variant Xeroderma pigmentosum, group F [RCV002972177] Chr16:13935136 [GRCh38]
Chr16:14028993 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV002614174] Chr16:13926603 [GRCh38]
Chr16:14020460 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV002880902] Chr16:13928128 [GRCh38]
Chr16:14021985 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV002731471] Chr16:13944817 [GRCh38]
Chr16:14038674 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.208-3T>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002967414] Chr16:13922028 [GRCh38]
Chr16:14015885 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe) single nucleotide variant Xeroderma pigmentosum, group F [RCV002618914] Chr16:13944815 [GRCh38]
Chr16:14038672 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.20C>T (p.Ala7Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003016417] Chr16:13920185 [GRCh38]
Chr16:14014042 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV002616703] Chr16:13930841 [GRCh38]
Chr16:14024698 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV002730395] Chr16:13935626 [GRCh38]
Chr16:14029483 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.96A>G (p.Leu32=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002972285] Chr16:13920261 [GRCh38]
Chr16:14014118 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV002994277] Chr16:13935278 [GRCh38]
Chr16:14029135 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV003097446] Chr16:13947848 [GRCh38]
Chr16:14041705 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003095494] Chr16:13937807 [GRCh38]
Chr16:14031664 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002750364] Chr16:13935675 [GRCh38]
Chr16:14029532 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.532G>A (p.Val178Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV003073569] Chr16:13926704 [GRCh38]
Chr16:14020561 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV003098998] Chr16:13922031 [GRCh38]
Chr16:14015888 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003076568] Chr16:13932186 [GRCh38]
Chr16:14026043 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.973+17C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV002842935] Chr16:13930907 [GRCh38]
Chr16:14024764 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys) inversion Xeroderma pigmentosum, group F [RCV002800355] Chr16:13948101..13948102 [GRCh38]
Chr16:14041958..14041959 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV002820939] Chr16:13926701 [GRCh38]
Chr16:14020558 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV002914159] Chr16:13928219 [GRCh38]
Chr16:14022076 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV002662379] Chr16:13922144 [GRCh38]
Chr16:14016001 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala) single nucleotide variant Fanconi anemia complementation group Q [RCV003325243]|Inborn genetic diseases [RCV002976549]|Xeroderma pigmentosum, group F [RCV002976548] Chr16:13935695 [GRCh38]
Chr16:14029552 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe) single nucleotide variant Xeroderma pigmentosum, group F [RCV002885502] Chr16:13932168 [GRCh38]
Chr16:14026025 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys) insertion Xeroderma pigmentosum, group F [RCV002909368] Chr16:13948043..13948044 [GRCh38]
Chr16:14041900..14041901 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.167C>T (p.Ala56Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003000123] Chr16:13920332 [GRCh38]
Chr16:14014189 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003037701] Chr16:13947719 [GRCh38]
Chr16:14041576 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu) single nucleotide variant Inborn genetic diseases [RCV002909963]|Xeroderma pigmentosum, group F [RCV002909962] Chr16:13935737 [GRCh38]
Chr16:14029594 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV002824655] Chr16:13948303 [GRCh38]
Chr16:14042160 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1062A>G (p.Lys354=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002913537] Chr16:13932245 [GRCh38]
Chr16:14026102 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1447_1450del (p.Arg483fs) microsatellite Xeroderma pigmentosum, group F [RCV002909338] Chr16:13935373..13935376 [GRCh38]
Chr16:14029230..14029233 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.2561A>G (p.Lys854Arg) single nucleotide variant Inborn genetic diseases [RCV002781820] Chr16:13948157 [GRCh38]
Chr16:14042014 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003000042] Chr16:13935249 [GRCh38]
Chr16:14029106 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2017+19del deletion Xeroderma pigmentosum, group F [RCV002846882] Chr16:13944854 [GRCh38]
Chr16:14038711 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe) single nucleotide variant Inborn genetic diseases [RCV002720479]|Xeroderma pigmentosum, group F [RCV002706243] Chr16:13937771 [GRCh38]
Chr16:14031628 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV002637333] Chr16:13947913 [GRCh38]
Chr16:14041770 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2504C>A (p.Ser835Tyr) single nucleotide variant Inborn genetic diseases [RCV002703940] Chr16:13948100 [GRCh38]
Chr16:14041957 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV002926938] Chr16:13937806 [GRCh38]
Chr16:14031663 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV002895012] Chr16:13947658 [GRCh38]
Chr16:14041515 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV003023850] Chr16:13926722 [GRCh38]
Chr16:14020579 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2018-19A>T single nucleotide variant Xeroderma pigmentosum, group F [RCV003058636] Chr16:13947595 [GRCh38]
Chr16:14041452 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV002701541] Chr16:13937837 [GRCh38]
Chr16:14031694 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2724C>G (p.Val908=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002875813] Chr16:13948320 [GRCh38]
Chr16:14042177 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV002932054] Chr16:13948045 [GRCh38]
Chr16:14041902 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1811G>C (p.Arg604Thr) single nucleotide variant Inborn genetic diseases [RCV002712493] Chr16:13935743 [GRCh38]
Chr16:14029600 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2708C>G (p.Thr903Ser) single nucleotide variant Inborn genetic diseases [RCV002916126] Chr16:13948304 [GRCh38]
Chr16:14042161 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1905-20G>C single nucleotide variant Xeroderma pigmentosum, group F [RCV002872519] Chr16:13944703 [GRCh38]
Chr16:14038560 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.409C>G (p.His137Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV002666561] Chr16:13926581 [GRCh38]
Chr16:14020438 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp) single nucleotide variant Xeroderma pigmentosum, group F [RCV002594431] Chr16:13947700 [GRCh38]
Chr16:14041557 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV002644480] Chr16:13947671 [GRCh38]
Chr16:14041528 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.872T>A (p.Leu291Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV002595685] Chr16:13930789 [GRCh38]
Chr16:14024646 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV002644333] Chr16:13937810 [GRCh38]
Chr16:14031667 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe) single nucleotide variant Xeroderma pigmentosum, group F [RCV002917415] Chr16:13948246 [GRCh38]
Chr16:14042103 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002872149] Chr16:13948236 [GRCh38]
Chr16:14042093 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV002574657] Chr16:13928179 [GRCh38]
Chr16:14022036 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.327G>A (p.Ala109=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002790499] Chr16:13922150 [GRCh38]
Chr16:14016007 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002894234] Chr16:13935552 [GRCh38]
Chr16:14029409 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.91G>C (p.Gly31Arg) single nucleotide variant Inborn genetic diseases [RCV002931210] Chr16:13920256 [GRCh38]
Chr16:14014113 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.981G>A (p.Leu327=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002710458] Chr16:13932164 [GRCh38]
Chr16:14026021 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2T>G (p.Met1Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV002957387] Chr16:13920167 [GRCh38]
Chr16:14014024 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV002596580] Chr16:13922140 [GRCh38]
Chr16:14015997 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003084315] Chr16:13935719 [GRCh38]
Chr16:14029576 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV003090254] Chr16:13935271 [GRCh38]
Chr16:14029128 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003031395] Chr16:13948087 [GRCh38]
Chr16:14041944 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV002966504] Chr16:13947973 [GRCh38]
Chr16:14041830 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003047911] Chr16:13922136 [GRCh38]
Chr16:14015993 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.889T>C (p.Tyr297His) single nucleotide variant Inborn genetic diseases [RCV002812514] Chr16:13930806 [GRCh38]
Chr16:14024663 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.25C>G (p.Arg9Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV002650366] Chr16:13920190 [GRCh38]
Chr16:14014047 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.68del (p.Val23fs) deletion Xeroderma pigmentosum, group F [RCV003061403] Chr16:13920233 [GRCh38]
Chr16:14014090 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.34A>G (p.Met12Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003062927] Chr16:13920199 [GRCh38]
Chr16:14014056 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003087907] Chr16:13935283 [GRCh38]
Chr16:14029140 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile) single nucleotide variant Fanconi anemia complementation group Q [RCV003325242]|Inborn genetic diseases [RCV003170767]|Xeroderma pigmentosum, group F [RCV002963014]|not provided [RCV003146704] Chr16:13935694 [GRCh38]
Chr16:14029551 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV002856481] Chr16:13948208 [GRCh38]
Chr16:14042065 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003063984] Chr16:13935429 [GRCh38]
Chr16:14029286 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.973+20A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002577736] Chr16:13930910 [GRCh38]
Chr16:14024767 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003088029] Chr16:13935621 [GRCh38]
Chr16:14029478 [GRCh37]
Chr16:16p13.12		 likely benign|uncertain significance
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002629101] Chr16:13932254 [GRCh38]
Chr16:14026111 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV003026439] Chr16:13922159 [GRCh38]
Chr16:14016016 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003011395] Chr16:13935565 [GRCh38]
Chr16:14029422 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn) single nucleotide variant Inborn genetic diseases [RCV002937927]|Xeroderma pigmentosum, group F [RCV002937928] Chr16:13944818 [GRCh38]
Chr16:14038675 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.114G>A (p.Gly38=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003086579] Chr16:13920279 [GRCh38]
Chr16:14014136 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002938876] Chr16:13935361 [GRCh38]
Chr16:14029218 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV002598926] Chr16:13920364 [GRCh38]
Chr16:14014221 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003065420] Chr16:13948229 [GRCh38]
Chr16:14042086 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV002806435] Chr16:13934237 [GRCh38]
Chr16:14028094 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002581287] Chr16:13947663 [GRCh38]
Chr16:14041520 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV003065166] Chr16:13935491 [GRCh38]
Chr16:14029348 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV002629294] Chr16:13948250 [GRCh38]
Chr16:14042107 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003051091] Chr16:13948345 [GRCh38]
Chr16:14042202 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.106G>C (p.Ala36Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV002608594] Chr16:13920271 [GRCh38]
Chr16:14014128 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.207+16C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002814598] Chr16:13920388 [GRCh38]
Chr16:14014245 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV002610352] Chr16:13948237 [GRCh38]
Chr16:14042094 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1013A>G (p.Asn338Ser) single nucleotide variant Inborn genetic diseases [RCV002813894] Chr16:13932196 [GRCh38]
Chr16:14026053 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV002585462] Chr16:13947965 [GRCh38]
Chr16:14041822 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV002944022]|Xeroderma pigmentosum, group F [RCV003154265] Chr16:13935298 [GRCh38]
Chr16:14029155 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1213+8A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV002588409] Chr16:13934310 [GRCh38]
Chr16:14028167 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002611575] Chr16:13944801 [GRCh38]
Chr16:14038658 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV003070012] Chr16:13935554 [GRCh38]
Chr16:14029411 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.871T>C (p.Leu291=) single nucleotide variant Xeroderma pigmentosum, group F [RCV002610305] Chr16:13930788 [GRCh38]
Chr16:14024645 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1214-1G>A single nucleotide variant Xeroderma pigmentosum [RCV003155758] Chr16:13935145 [GRCh38]
Chr16:14029002 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.100G>A (p.Val34Met) single nucleotide variant Ovarian cancer [RCV003154735]|Xeroderma pigmentosum, group F [RCV003778920] Chr16:13920265 [GRCh38]
Chr16:14014122 [GRCh37]
Chr16:16p13.12		 likely pathogenic|uncertain significance
NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003154582] Chr16:13930878 [GRCh38]
Chr16:14024735 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1A>G (p.Met1Val) single nucleotide variant Fanconi anemia complementation group Q [RCV003154575] Chr16:13920166 [GRCh38]
Chr16:14014023 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2017G>A (p.Gly673Ser) single nucleotide variant not provided [RCV003147116] Chr16:13944835 [GRCh38]
Chr16:14038692 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.520G>C (p.Gly174Arg) single nucleotide variant Inborn genetic diseases [RCV003198392] Chr16:13926692 [GRCh38]
Chr16:14020549 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter) single nucleotide variant Xeroderma pigmentosum [RCV003226760] Chr16:13922126 [GRCh38]
Chr16:14015983 [GRCh37]
Chr16:16p13.12		 likely pathogenic
NM_005236.3(ERCC4):c.1477A>C (p.Thr493Pro) single nucleotide variant not provided [RCV003147113] Chr16:13935409 [GRCh38]
Chr16:14029266 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1459A>G (p.Lys487Glu) single nucleotide variant not provided [RCV003147114] Chr16:13935391 [GRCh38]
Chr16:14029248 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1298T>G (p.Leu433Trp) single nucleotide variant not provided [RCV003147115] Chr16:13935230 [GRCh38]
Chr16:14029087 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.732C>G (p.Asn244Lys) single nucleotide variant Inborn genetic diseases [RCV003193650] Chr16:13928175 [GRCh38]
Chr16:14022032 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1811+2C>A single nucleotide variant not provided [RCV003322582] Chr16:13935745 [GRCh38]
Chr16:14029602 [GRCh37]
Chr16:16p13.12		 not provided
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val) single nucleotide variant Fanconi anemia complementation group Q [RCV003467943]|Xeroderma pigmentosum, group F [RCV003779014] Chr16:13935215 [GRCh38]
Chr16:14029072 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV003791791] Chr16:13947823 [GRCh38]
Chr16:14041680 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser) single nucleotide variant Fanconi anemia complementation group Q [RCV003444444] Chr16:13926692 [GRCh38]
Chr16:14020549 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.850T>C (p.Leu284=) single nucleotide variant not provided [RCV003417653] Chr16:13930767 [GRCh38]
Chr16:14024624 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile) single nucleotide variant Xeroderma pigmentosum, group F [RCV003797472] Chr16:13922085 [GRCh38]
Chr16:14015942 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV003788402] Chr16:13937856 [GRCh38]
Chr16:14031713 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV003780504] Chr16:13935167 [GRCh38]
Chr16:14029024 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003795341] Chr16:13935699 [GRCh38]
Chr16:14029556 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003784853] Chr16:13947706 [GRCh38]
Chr16:14041563 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.412A>C (p.Arg138=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003797517] Chr16:13926584 [GRCh38]
Chr16:14020441 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.938dup (p.Arg314fs) duplication Xeroderma pigmentosum, group F [RCV003782518] Chr16:13930854..13930855 [GRCh38]
Chr16:14024711..14024712 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.190A>T (p.Thr64Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV003805972] Chr16:13920355 [GRCh38]
Chr16:14014212 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.846A>G (p.Lys282=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003797363] Chr16:13930763 [GRCh38]
Chr16:14024620 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.793-18A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV003795560] Chr16:13930692 [GRCh38]
Chr16:14024549 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV003797656] Chr16:13948015 [GRCh38]
Chr16:14041872 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.856C>T (p.Gln286Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV003781269] Chr16:13930773 [GRCh38]
Chr16:14024630 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1811+16T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV003786498] Chr16:13935759 [GRCh38]
Chr16:14029616 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003806429] Chr16:13932249 [GRCh38]
Chr16:14026106 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.849_856del (p.Leu284fs) deletion Xeroderma pigmentosum, group F [RCV003792893] Chr16:13930764..13930771 [GRCh38]
Chr16:14024621..14024628 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.207+19G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV003783345] Chr16:13920391 [GRCh38]
Chr16:14014248 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003784657] Chr16:13947693 [GRCh38]
Chr16:14041550 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.730A>C (p.Asn244His) single nucleotide variant Xeroderma pigmentosum, group F [RCV003786419] Chr16:13928173 [GRCh38]
Chr16:14022030 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1213+11dup duplication Xeroderma pigmentosum, group F [RCV003788229] Chr16:13934307..13934308 [GRCh38]
Chr16:14028164..14028165 [GRCh37]
Chr16:16p13.12		 benign
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003791068] Chr16:13947999 [GRCh38]
Chr16:14041856 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.652A>G (p.Met218Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003784739] Chr16:13928095 [GRCh38]
Chr16:14021952 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003780408] Chr16:13932272 [GRCh38]
Chr16:14026129 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.43C>T (p.Leu15=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003780459] Chr16:13920208 [GRCh38]
Chr16:14014065 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.388+20_388+25del microsatellite Xeroderma pigmentosum, group F [RCV003791305] Chr16:13922228..13922233 [GRCh38]
Chr16:14016085..14016090 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.792+7T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV003784167] Chr16:13928242 [GRCh38]
Chr16:14022099 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003784831] Chr16:13948266 [GRCh38]
Chr16:14042123 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV003784857] Chr16:13935336 [GRCh38]
Chr16:14029193 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003784457] Chr16:13948293 [GRCh38]
Chr16:14042150 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003788410] Chr16:13935582 [GRCh38]
Chr16:14029439 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003785498] Chr16:13928188 [GRCh38]
Chr16:14022045 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003789177] Chr16:13935531 [GRCh38]
Chr16:14029388 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His) single nucleotide variant Xeroderma pigmentosum, group F [RCV003780634] Chr16:13937782 [GRCh38]
Chr16:14031639 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV003796550] Chr16:13922070 [GRCh38]
Chr16:14015927 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.886C>T (p.Gln296Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV003792676] Chr16:13930803 [GRCh38]
Chr16:14024660 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003806428] Chr16:13947810 [GRCh38]
Chr16:14041667 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003785694] Chr16:13926574 [GRCh38]
Chr16:14020431 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1376C>A (p.Ser459Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV003781677] Chr16:13935308 [GRCh38]
Chr16:14029165 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.90C>G (p.Asp30Glu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003806866] Chr16:13920255 [GRCh38]
Chr16:14014112 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.388+15T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV003780827] Chr16:13922226 [GRCh38]
Chr16:14016083 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.663dup (p.Met222fs) duplication Xeroderma pigmentosum, group F [RCV003780144] Chr16:13928104..13928105 [GRCh38]
Chr16:14021961..14021962 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.711A>G (p.Leu237=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003782676] Chr16:13928154 [GRCh38]
Chr16:14022011 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV003787174] Chr16:13935625 [GRCh38]
Chr16:14029482 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.208-19C>G single nucleotide variant Xeroderma pigmentosum, group F [RCV003806267] Chr16:13922012 [GRCh38]
Chr16:14015869 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs) deletion Xeroderma pigmentosum, group F [RCV003804988] Chr16:13948230..13948233 [GRCh38]
Chr16:14042087..14042090 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.591T>C (p.His197=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003780318] Chr16:13928034 [GRCh38]
Chr16:14021891 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.208-7G>T single nucleotide variant Xeroderma pigmentosum, group F [RCV003804470] Chr16:13922024 [GRCh38]
Chr16:14015881 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003789737] Chr16:13935303 [GRCh38]
Chr16:14029160 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys) single nucleotide variant Xeroderma pigmentosum, group F [RCV003789804] Chr16:13926593 [GRCh38]
Chr16:14020450 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1214-8A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV003806423] Chr16:13935138 [GRCh38]
Chr16:14028995 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.585-18A>C single nucleotide variant Xeroderma pigmentosum, group F [RCV003786627] Chr16:13928010 [GRCh38]
Chr16:14021867 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003781874] Chr16:13948067 [GRCh38]
Chr16:14041924 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.389-5C>A single nucleotide variant Xeroderma pigmentosum, group F [RCV003789798] Chr16:13926556 [GRCh38]
Chr16:14020413 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.9A>C (p.Ser3=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003785957] Chr16:13920174 [GRCh38]
Chr16:14014031 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003807424] Chr16:13947924 [GRCh38]
Chr16:14041781 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003782040] Chr16:13934293 [GRCh38]
Chr16:14028150 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV003789159] Chr16:13930765 [GRCh38]
Chr16:14024622 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003789900] Chr16:13930737 [GRCh38]
Chr16:14024594 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.681T>G (p.Thr227=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003806123] Chr16:13928124 [GRCh38]
Chr16:14021981 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV003785983] Chr16:13948252 [GRCh38]
Chr16:14042109 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003795471] Chr16:13935332 [GRCh38]
Chr16:14029189 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.355T>C (p.Leu119=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003795920] Chr16:13922178 [GRCh38]
Chr16:14016035 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV003786710] Chr16:13935664 [GRCh38]
Chr16:14029521 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys) single nucleotide variant Xeroderma pigmentosum, group F [RCV003792663] Chr16:13922116 [GRCh38]
Chr16:14015973 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.306A>G (p.Thr102=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003781748] Chr16:13922129 [GRCh38]
Chr16:14015986 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003792695] Chr16:13937854 [GRCh38]
Chr16:14031711 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003794282] Chr16:13935312 [GRCh38]
Chr16:14029169 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1811+9T>A single nucleotide variant Xeroderma pigmentosum, group F [RCV003787237] Chr16:13935752 [GRCh38]
Chr16:14029609 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1812-6A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV003793217] Chr16:13937760 [GRCh38]
Chr16:14031617 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr) single nucleotide variant Xeroderma pigmentosum, group F [RCV003780479] Chr16:13947982 [GRCh38]
Chr16:14041839 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met) single nucleotide variant Xeroderma pigmentosum, group F [RCV003792776] Chr16:13947873 [GRCh38]
Chr16:14041730 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1102+14T>C single nucleotide variant Xeroderma pigmentosum, group F [RCV003793262] Chr16:13932299 [GRCh38]
Chr16:14026156 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003793763] Chr16:13922126 [GRCh38]
Chr16:14015983 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.363T>C (p.Asp121=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003788683] Chr16:13922186 [GRCh38]
Chr16:14016043 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.158G>A (p.Cys53Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV003790085] Chr16:13920323 [GRCh38]
Chr16:14014180 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003782677] Chr16:13934196 [GRCh38]
Chr16:14028053 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003783799] Chr16:13935720 [GRCh38]
Chr16:14029577 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.152T>G (p.Leu51Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003787934] Chr16:13920317 [GRCh38]
Chr16:14014174 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.83A>G (p.Asp28Gly) single nucleotide variant Xeroderma pigmentosum, group F [RCV003788050] Chr16:13920248 [GRCh38]
Chr16:14014105 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.81C>T (p.Leu27=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003781335] Chr16:13920246 [GRCh38]
Chr16:14014103 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV003790331] Chr16:13922137 [GRCh38]
Chr16:14015994 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1904+7C>T single nucleotide variant Xeroderma pigmentosum, group F [RCV003783216] Chr16:13937865 [GRCh38]
Chr16:14031722 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003790348] Chr16:13935562 [GRCh38]
Chr16:14029419 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr) single nucleotide variant Xeroderma pigmentosum, group F [RCV003789748] Chr16:13930728 [GRCh38]
Chr16:14024585 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV003788988] Chr16:13948120 [GRCh38]
Chr16:14041977 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2706C>T (p.His902=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003799905] Chr16:13948302 [GRCh38]
Chr16:14042159 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003810107] Chr16:13947783 [GRCh38]
Chr16:14041640 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.148C>T (p.Gln50Ter) single nucleotide variant Xeroderma pigmentosum, group F [RCV003797867] Chr16:13920313 [GRCh38]
Chr16:14014170 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro) single nucleotide variant Xeroderma pigmentosum, group F [RCV003808069] Chr16:13926621 [GRCh38]
Chr16:14020478 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.73G>C (p.Glu25Gln) single nucleotide variant Xeroderma pigmentosum, group F [RCV003800214] Chr16:13920238 [GRCh38]
Chr16:14014095 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1905-4A>G single nucleotide variant Xeroderma pigmentosum, group F [RCV003808261] Chr16:13944719 [GRCh38]
Chr16:14038576 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.381A>G (p.Leu127=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003810139] Chr16:13922204 [GRCh38]
Chr16:14016061 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg) single nucleotide variant Xeroderma pigmentosum, group F [RCV003809288] Chr16:13947965 [GRCh38]
Chr16:14041822 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile) single nucleotide variant Xeroderma pigmentosum, group F [RCV003808806] Chr16:13922101 [GRCh38]
Chr16:14015958 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1402del (p.Arg468fs) deletion Xeroderma pigmentosum, group F [RCV003817876] Chr16:13935331 [GRCh38]
Chr16:14029188 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu) single nucleotide variant Xeroderma pigmentosum, group F [RCV003801531] Chr16:13935308 [GRCh38]
Chr16:14029165 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.147C>T (p.Leu49=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003801952] Chr16:13920312 [GRCh38]
Chr16:14014169 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val) single nucleotide variant Xeroderma pigmentosum, group F [RCV003808446] Chr16:13947646 [GRCh38]
Chr16:14041503 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003798824] Chr16:13948231 [GRCh38]
Chr16:14042088 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003813148] Chr16:13934241 [GRCh38]
Chr16:14028098 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.561G>A (p.Val187=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003813628] Chr16:13926733 [GRCh38]
Chr16:14020590 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003799989] Chr16:13932185 [GRCh38]
Chr16:14026042 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn) single nucleotide variant Xeroderma pigmentosum, group F [RCV003808862] Chr16:13947787 [GRCh38]
Chr16:14041644 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser) single nucleotide variant Xeroderma pigmentosum, group F [RCV003797989] Chr16:13948181 [GRCh38]
Chr16:14042038 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003800232] Chr16:13937857 [GRCh38]
Chr16:14031714 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV003798155] Chr16:13937794 [GRCh38]
Chr16:14031651 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.165A>G (p.Pro55=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003802803] Chr16:13920330 [GRCh38]
Chr16:14014187 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.2535T>C (p.Asn845=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003802214] Chr16:13948131 [GRCh38]
Chr16:14041988 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp) single nucleotide variant Xeroderma pigmentosum, group F [RCV003803155] Chr16:13935221 [GRCh38]
Chr16:14029078 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.336G>A (p.Arg112=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003803197] Chr16:13922159 [GRCh38]
Chr16:14016016 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala) single nucleotide variant Xeroderma pigmentosum, group F [RCV003802686] Chr16:13928104 [GRCh38]
Chr16:14021961 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=) single nucleotide variant Xeroderma pigmentosum, group F [RCV003803514] Chr16:13948287 [GRCh38]
Chr16:14042144 [GRCh37]
Chr16:16p13.12		 likely benign
GRCh37/hg19 16p13.12(chr16:13950978-14176005)x3 copy number gain not specified [RCV003987181] Chr16:13950978..14176005 [GRCh37]
Chr16:16p13.12		 uncertain significance
NM_005236.3(ERCC4):c.384T>C (p.Ile128=) single nucleotide variant ERCC4-related condition [RCV003964535] Chr16:13922207 [GRCh38]
Chr16:14016064 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1890T>C (p.Phe630=) single nucleotide variant ERCC4-related condition [RCV003983464] Chr16:13937844 [GRCh38]
Chr16:14031701 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1638C>T (p.Ile546=) single nucleotide variant ERCC4-related condition [RCV003896888] Chr16:13935570 [GRCh38]
Chr16:14029427 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.426T>A (p.Ser142=) single nucleotide variant ERCC4-related condition [RCV003967329] Chr16:13926598 [GRCh38]
Chr16:14020455 [GRCh37]
Chr16:16p13.12		 likely benign
NM_005236.3(ERCC4):c.1315del (p.Thr439fs) deletion not provided [RCV003887551] Chr16:13935244 [GRCh38]
Chr16:14029101 [GRCh37]
Chr16:16p13.12		 pathogenic
NM_005236.3(ERCC4):c.1578G>A (p.Pro526=) single nucleotide variant ERCC4-related condition [RCV003899602] Chr16:13935510 [GRCh38]
Chr16:14029367 [GRCh37]
Chr16:16p13.12		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR192hsa-miR-192-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)19074876
MIR192hsa-miR-192-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21672525

Predicted Target Of
Summary Value
Count of predictions:2635
Count of miRNA genes:1155
Interacting mature miRNAs:1430
Transcripts:ENST00000311895, ENST00000389138, ENST00000462862, ENST00000573018, ENST00000574194, ENST00000574781, ENST00000575156, ENST00000576348
Prediction methods: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.

Markers in Region
RH76185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,042,230 - 14,042,413UniSTSGRCh37
Build 361613,949,731 - 13,949,914RGDNCBI36
Celera1614,217,421 - 14,217,604RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1613,959,726 - 13,959,909UniSTS
G67513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,013,957 - 14,014,268UniSTSGRCh37
Build 361613,921,458 - 13,921,769RGDNCBI36
Celera1614,189,149 - 14,189,460RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1613,931,444 - 13,931,755UniSTS
G67511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,038,544 - 14,038,748UniSTSGRCh37
Build 361613,946,045 - 13,946,249RGDNCBI36
Celera1614,213,735 - 14,213,939RGD
Cytogenetic Map16p13.12UniSTS
G67515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,041,427 - 14,042,272UniSTSGRCh37
Build 361613,948,928 - 13,949,773RGDNCBI36
Celera1614,216,618 - 14,217,463RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1613,958,923 - 13,959,768UniSTS
G67514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,020,368 - 14,020,673UniSTSGRCh37
Build 361613,927,869 - 13,928,174RGDNCBI36
Celera1614,195,559 - 14,195,864RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1613,937,856 - 13,938,161UniSTS
G67516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,028,919 - 14,029,636UniSTSGRCh37
Build 361613,936,420 - 13,937,137RGDNCBI36
Celera1614,204,109 - 14,204,826RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1613,946,406 - 13,947,123UniSTS
G67512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,031,523 - 14,031,758UniSTSGRCh37
Build 361613,939,024 - 13,939,259RGDNCBI36
Celera1614,206,714 - 14,206,949RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1613,949,018 - 13,949,253UniSTS
RH65247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,042,066 - 14,042,252UniSTSGRCh37
Build 361613,949,567 - 13,949,753RGDNCBI36
Celera1614,217,257 - 14,217,443RGD
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map16p13.12UniSTS
HuRef1613,959,562 - 13,959,748UniSTS
GeneMap99-GB4 RH Map16110.64UniSTS
NCBI RH Map16139.9UniSTS
ERCC4_4079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371614,041,489 - 14,042,370UniSTSGRCh37
Build 361613,948,990 - 13,949,871RGDNCBI36
Celera1614,216,680 - 14,217,561RGD
HuRef1613,958,985 - 13,959,866UniSTS
D10S16   No map positions available.
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 15 3 16 3 100 3 27 32 70 10 369 79 4 1 1 1
Low 2419 2422 1689 604 1361 445 4328 2099 3643 403 1090 1530 170 1204 2786 5 1
Below cutoff 5 565 21 17 489 17 2 66 21 6 1 4 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF491814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI470593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L77890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT827130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT827131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT827132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT827133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U64315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311895   ⟹   ENSP00000310520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,154 - 13,952,348 (+)Ensembl
RefSeq Acc Id: ENST00000389138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,932,026 - 13,948,425 (+)Ensembl
RefSeq Acc Id: ENST00000462862   ⟹   ENSP00000461322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,937,764 - 13,948,004 (+)Ensembl
RefSeq Acc Id: ENST00000573018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,934,022 - 13,935,387 (+)Ensembl
RefSeq Acc Id: ENST00000574194   ⟹   ENSP00000461883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,926,552 - 13,932,239 (+)Ensembl
RefSeq Acc Id: ENST00000574781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,927,450 - 13,930,878 (+)Ensembl
RefSeq Acc Id: ENST00000575156   ⟹   ENSP00000459933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,157 - 13,933,247 (+)Ensembl
RefSeq Acc Id: ENST00000576348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,191 - 13,926,801 (+)Ensembl
RefSeq Acc Id: ENST00000682552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,178 - 13,934,355 (+)Ensembl
RefSeq Acc Id: ENST00000682568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,428 - 13,936,015 (+)Ensembl
RefSeq Acc Id: ENST00000682617   ⟹   ENSP00000507912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,138 - 13,952,348 (+)Ensembl
RefSeq Acc Id: ENST00000682826   ⟹   ENSP00000507274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,157 - 13,940,148 (+)Ensembl
RefSeq Acc Id: ENST00000682909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,157 - 13,940,361 (+)Ensembl
RefSeq Acc Id: ENST00000683277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,179 - 13,940,239 (+)Ensembl
RefSeq Acc Id: ENST00000683407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,158 - 13,936,727 (+)Ensembl
RefSeq Acc Id: ENST00000683962   ⟹   ENSP00000506854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1613,920,154 - 13,949,401 (+)Ensembl
RefSeq Acc Id: NM_005236   ⟹   NP_005227
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381613,920,154 - 13,952,348 (+)NCBI
GRCh371614,014,014 - 14,046,205 (+)ENTREZGENE
Build 361613,921,524 - 13,949,705 (+)NCBI Archive
HuRef1613,931,501 - 13,963,699 (+)ENTREZGENE
CHM1_11614,013,994 - 14,046,211 (+)NCBI
T2T-CHM13v2.01613,957,393 - 13,989,586 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522424   ⟹   XP_011520726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381613,920,154 - 13,952,348 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522427   ⟹   XP_011520729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381613,932,316 - 13,952,348 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433774   ⟹   XP_047289730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381613,928,544 - 13,952,348 (+)NCBI
RefSeq Acc Id: XM_054379810   ⟹   XP_054235785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01613,957,393 - 13,989,586 (+)NCBI
RefSeq Acc Id: XM_054379811   ⟹   XP_054235786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01613,965,783 - 13,989,586 (+)NCBI
RefSeq Acc Id: XM_054379812   ⟹   XP_054235787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01613,969,555 - 13,989,586 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_005227   ⟸   NM_005236
- UniProtKB: O00140 (UniProtKB/Swiss-Prot),   A8K111 (UniProtKB/Swiss-Prot),   A5PKV6 (UniProtKB/Swiss-Prot),   Q8TD83 (UniProtKB/Swiss-Prot),   Q92889 (UniProtKB/Swiss-Prot),   A0A1W1GSK9 (UniProtKB/TrEMBL),   A0A1W1GST9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520726   ⟸   XM_011522424
- Peptide Label: isoform X1
- UniProtKB: A0A804HKF9 (UniProtKB/TrEMBL),   A0A1W1GST9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520729   ⟸   XM_011522427
- Peptide Label: isoform X3
- UniProtKB: B4DXD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000461322   ⟸   ENST00000462862
RefSeq Acc Id: ENSP00000461883   ⟸   ENST00000574194
RefSeq Acc Id: ENSP00000459933   ⟸   ENST00000575156
RefSeq Acc Id: ENSP00000310520   ⟸   ENST00000311895
RefSeq Acc Id: ENSP00000507912   ⟸   ENST00000682617
RefSeq Acc Id: ENSP00000507274   ⟸   ENST00000682826
RefSeq Acc Id: ENSP00000506854   ⟸   ENST00000683962
RefSeq Acc Id: XP_047289730   ⟸   XM_047433774
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235785   ⟸   XM_054379810
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235786   ⟸   XM_054379811
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235787   ⟸   XM_054379812
- Peptide Label: isoform X3
Protein Domains
ERCC4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92889-F1-model_v2 AlphaFold Q92889 1-916 view protein structure

Promoters
RGD ID:7231369
Promoter ID:EPDNEW_H21431
Type:initiation region
Name:ERCC4_1
Description:ERCC excision repair 4, endonuclease catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381613,920,157 - 13,920,217EPDNEW
RGD ID:6793097
Promoter ID:HG_KWN:23074
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000389138,   NM_005236,   UC010BVA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361613,921,294 - 13,921,794 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3436 AgrOrtholog
COSMIC ERCC4 COSMIC
Ensembl Genes ENSG00000175595 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311895 ENTREZGENE
  ENST00000311895.8 UniProtKB/Swiss-Prot
  ENST00000462862.1 UniProtKB/TrEMBL
  ENST00000574194.1 UniProtKB/TrEMBL
  ENST00000575156.5 UniProtKB/Swiss-Prot
  ENST00000682617 ENTREZGENE
  ENST00000682617.1 UniProtKB/TrEMBL
  ENST00000682826.1 UniProtKB/TrEMBL
  ENST00000683962.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10130 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5' to 3' exonuclease, C-terminal subdomain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175595 GTEx
HGNC ID HGNC:3436 ENTREZGENE
Human Proteome Map ERCC4 Human Proteome Map
InterPro ERCC4_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Restrct_endonuc-II-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RuvA_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XPF_nuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2072 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2072 ENTREZGENE
OMIM 133520 OMIM
PANTHER DNA REPAIR ENDONUCLEASE XPF UniProtKB/Swiss-Prot
  DNA REPAIR ENDONUCLEASE XPF UniProtKB/Swiss-Prot
  DNA REPAIR ENDONUCLEASE XPF UniProtKB/TrEMBL
  DNA REPAIR ENDONUCLEASE XPF UniProtKB/TrEMBL
Pfam ERCC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ERCC4 RGD, PharmGKB
SMART ERCC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W1GSK9 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W1GSL6_HUMAN UniProtKB/TrEMBL
  A0A1W1GSP5_HUMAN UniProtKB/TrEMBL
  A0A1W1GST9 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HI16_HUMAN UniProtKB/TrEMBL
  A0A804HIY2_HUMAN UniProtKB/TrEMBL
  A0A804HKF9 ENTREZGENE, UniProtKB/TrEMBL
  A0PJA9_HUMAN UniProtKB/TrEMBL
  A5PKV6 ENTREZGENE
  A8K111 ENTREZGENE
  B4DXD8 ENTREZGENE, UniProtKB/TrEMBL
  I3L4K0_HUMAN UniProtKB/TrEMBL
  I3NI48_HUMAN UniProtKB/TrEMBL
  O00140 ENTREZGENE
  Q8TD83 ENTREZGENE
  Q92889 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A5PKV6 UniProtKB/Swiss-Prot
  A8K111 UniProtKB/Swiss-Prot
  O00140 UniProtKB/Swiss-Prot
  Q8TD83 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 ERCC4  ERCC excision repair 4, endonuclease catalytic subunit  ERCC4  excision repair cross-complementation group 4  Symbol and/or name change 5135510 APPROVED
2014-03-12 ERCC4  excision repair cross-complementation group 4  ERCC4  excision repair cross-complementing rodent repair deficiency, complementation group 4  Symbol and/or name change 5135510 APPROVED