ClinVar Miner

Variants with conflicting interpretations studied for Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

Coded as:
Minimum review status of the submission for Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive: Y axis collection method of the submission for Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
137 37 0 23 19 1 3 38

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 1 2 1 1 1
likely pathogenic 1 0 1 0 0 0
uncertain significance 1 0 0 4 1 0
likely benign 0 0 4 0 0 0
benign 0 0 12 21 0 0

Condition to condition summary #

Total conditions: 120
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Hyper-IgE syndrome 0 15 0 13 10 0 0 23
not specified 0 30 0 8 7 0 2 16
not provided 0 13 0 3 4 0 1 7
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 206 4 0 0 1 0 1 2
Inborn genetic diseases 0 0 0 0 2 0 0 2
1p13.3 deletion syndrome 0 0 0 1 0 0 0 1
Abnormality of the eye 0 0 0 1 0 0 0 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 0 0 1 1
Adams-Oliver syndrome 5 0 0 0 1 0 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 0 0 1 1
Ataxia-telangiectasia-like disorder 1 0 0 0 1 0 0 0 1
Autism spectrum disorder 0 0 0 1 0 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 1 0 0 1 1
Autistic behavior; Moderate global developmental delay 0 0 0 1 0 0 0 1
Autistic behavior; Severe global developmental delay 0 0 0 1 0 0 0 1
Autistic disorder of childhood onset 0 0 0 1 0 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 1 0 0 0 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 0 0 1 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 0 0 1 1
Bethlem myopathy 1 0 0 0 0 0 0 1 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 0 0 1 1
Biotinidase deficiency 0 0 0 0 0 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
CHARGE association 0 0 0 0 0 0 1 1
Cerebral cavernous malformation 0 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 0 0 1 0 0 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 1 0 0 0 1
Collagen VI-related myopathy 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 31 0 0 0 1 0 0 0 1
Cone/cone-rod dystrophy 0 0 0 1 0 0 0 1
Congenital contractural arachnodactyly 0 0 0 0 0 0 1 1
Cornelia de Lange syndrome 1 0 0 0 1 0 0 0 1
Currarino triad 0 0 0 1 0 0 0 1
Cystinuria 0 0 0 1 0 0 0 1
Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1G 0 0 0 1 0 0 0 1
Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 0 0 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 1 0 0 0 1
Epilepsy, progressive myoclonic 3 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 1 0 0 0 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 1 0 0 0 1
Familial cancer of breast 0 0 0 1 0 0 1 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Familial hypercholesterolemia 0 0 0 1 0 0 1 1
Familial hypokalemia-hypomagnesemia 0 0 0 1 0 0 0 1
Fanconi anemia 0 0 0 0 0 0 1 1
Fanconi anemia, complementation group A 0 0 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Glioma 0 0 0 1 0 0 0 1
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 0 0 1 0 0 0 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 1 0 0 0 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 0 1
Hereditary cancer-predisposing syndrome 0 0 0 1 0 0 0 1
Hereditary nonpolyposis colon cancer 0 0 0 1 0 0 1 1
Hereditary pancreatitis 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 0 0 1 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 0 0 1 1
Hypertrophic cardiomyopathy 0 0 0 0 0 0 1 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Infantile nephronophthisis 0 0 0 1 0 0 0 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Intestinal malrotation 0 0 0 1 0 0 1 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 0 0 1 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 0 1
Majeed syndrome 0 0 0 1 0 0 0 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 18 0 0 0 1 0 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 0 0 1 1
Myopathy, distal, 1 0 0 0 0 0 0 1 1
Myosclerosis 0 0 0 0 0 0 1 1
Myosin storage myopathy 0 0 0 0 0 0 1 1
Nemaline myopathy 6 0 0 0 1 0 0 0 1
Nephronophthisis 0 0 0 0 0 0 1 1
Neuroblastoma 3 0 0 0 0 0 0 1 1
Neurodevelopmental disorder 0 0 0 0 0 0 1 1
Neurofibromatosis, type 2 0 0 0 0 0 0 1 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 0 0 1 1
Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 0 0 0 0 0 0 1 1
Parkinson disease 2 0 0 0 1 0 0 0 1
Pediatric metastatic thyroid tumour 0 0 0 1 0 0 0 1
Peripheral neuropathy 0 0 0 0 0 0 1 1
Pitt-Hopkins syndrome 0 0 0 1 0 0 0 1
Primary ciliary dyskinesia 0 0 0 1 0 0 1 1
Primary hyperoxaluria, type I 0 0 0 0 0 0 1 1
Progressive familial heart block type 1B 0 0 0 0 0 0 1 1
Progressive myoclonus epilepsy with ataxia 0 0 0 1 0 0 0 1
Renal transitional cell carcinoma 0 0 0 1 0 0 0 1
Retinal dystrophy 0 0 0 1 0 0 0 1
Retinitis pigmentosa 0 0 0 1 0 0 0 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 1 0 0 0 1
Scapuloperoneal myopathy 0 0 0 0 0 0 1 1
Schizophrenia 0 0 0 1 0 0 0 1
Seizures; Intellectual disability 0 0 0 1 0 0 0 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 0 0 1 1
Spastic paraplegia 0 0 0 0 0 0 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 0 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 1 0 0 0 1
Stargardt disease 1 0 0 0 1 0 0 0 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Treacher Collins syndrome 1 0 0 0 1 0 0 0 1
Usher syndrome 0 0 0 1 0 0 0 1
Visceral myopathy 0 0 0 1 0 0 0 1
not provided; not provided 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 38
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HGVS dbSNP
NM_203447.3(DOCK8):c.1017G>A (p.Pro339=) rs35746964
NM_203447.3(DOCK8):c.1582C>A (p.Leu528Met) rs146250176
NM_203447.3(DOCK8):c.1587C>G (p.Pro529=) rs146289269
NM_203447.3(DOCK8):c.1881T>C (p.Phe627=) rs140134223
NM_203447.3(DOCK8):c.2295C>T (p.Ser765=) rs12348944
NM_203447.3(DOCK8):c.2739C>T (p.Ser913=) rs116523732
NM_203447.3(DOCK8):c.2862A>T (p.Pro954=) rs117610764
NM_203447.3(DOCK8):c.3021T>C (p.Phe1007=) rs7034926
NM_203447.3(DOCK8):c.3022C>T (p.Arg1008Trp) rs16937932
NM_203447.3(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543
NM_203447.3(DOCK8):c.3208A>G (p.Asn1070Asp) rs73382631
NM_203447.3(DOCK8):c.3230G>A (p.Ser1077Asn) rs34627722
NM_203447.3(DOCK8):c.3441C>T (p.Phe1147=) rs34621129
NM_203447.3(DOCK8):c.3460C>T (p.Arg1154Cys) rs34390308
NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114
NM_203447.3(DOCK8):c.3606T>C (p.Cys1202=) rs143919622
NM_203447.3(DOCK8):c.380G>A (p.Arg127His) rs150742426
NM_203447.3(DOCK8):c.3813A>G (p.Lys1271=) rs75411647
NM_203447.3(DOCK8):c.3840+3A>G rs16938572
NM_203447.3(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018
NM_203447.3(DOCK8):c.404+16del rs727505303
NM_203447.3(DOCK8):c.405-8C>G rs748853895
NM_203447.3(DOCK8):c.4346C>T (p.Ser1449Leu) rs370123223
NM_203447.3(DOCK8):c.452G>A (p.Arg151Gln) rs149918318
NM_203447.3(DOCK8):c.5001C>T (p.His1667=) rs35662752
NM_203447.3(DOCK8):c.5187A>G (p.Val1729=) rs111535933
NM_203447.3(DOCK8):c.5211G>A (p.Glu1737=) rs34098809
NM_203447.3(DOCK8):c.52A>G (p.Arg18Gly) rs200689054
NM_203447.3(DOCK8):c.5386C>T (p.Arg1796Ter)
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_203447.3(DOCK8):c.5481T>C (p.His1827=) rs1554708887
NM_203447.3(DOCK8):c.6201A>G (p.Glu2067=) rs145573166
NM_203447.3(DOCK8):c.663C>A (p.Asp221Glu) rs139391329
NM_203447.3(DOCK8):c.709G>A (p.Glu237Lys) rs11789099
NM_203447.3(DOCK8):c.870C>G (p.Leu290=) rs201244929
NM_203447.3(DOCK8):c.952G>A (p.Ala318Thr) rs35482838
NM_203447.3(DOCK8):c.986C>T (p.Ala329Val) rs75352090
Single allele

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