ClinVar Miner

Variants with conflicting interpretations studied for Osteogenesis imperfecta type I

Coded as:
Minimum review status of the submission for Osteogenesis imperfecta type I: Y axis collection method of the submission for Osteogenesis imperfecta type I:
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
264 70 2 12 11 1 7 28

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
Osteogenesis imperfecta type I pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective
pathogenic 1 7 1 1 1 1 1 1
likely pathogenic 1 0 1 0 0 0 0 0
uncertain significance 1 4 1 8 0 0 0 0
likely benign 0 0 3 0 1 0 0 0
benign 0 0 0 3 0 0 0 0

Condition to condition summary #

Total conditions: 193
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
not provided 0 51 0 3 4 0 2 8
not specified 0 9 0 1 4 0 2 7
Infantile cortical hyperostosis 0 4 1 3 1 0 0 5
Osteogenesis imperfecta 0 8 0 4 0 0 1 5
Connective tissue disorder 0 0 0 0 4 0 0 4
Ehlers-Danlos syndrome, type 7A 0 4 0 3 1 0 0 4
Osteogenesis Imperfecta, Dominant 0 4 0 3 1 0 0 4
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 3 3
11q partial monosomy syndrome 0 0 0 1 0 0 0 1
1p13.3 deletion syndrome 0 0 0 1 0 0 0 1
Abnormal bleeding 0 0 0 1 0 0 1 1
Abnormal thrombosis; Reduced protein S activity 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
Anomalous pulmonary venous return 0 0 0 0 0 0 1 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
Arthrogryphosis 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; Absent speech 0 0 0 0 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
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 1 0 0 0 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 1 0 0 0 1 0 0 1 1
Breast-ovarian cancer, familial 3 0 0 0 1 0 0 0 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 1
Bruising susceptibility; Fragile skin; Joint hypermobility 0 0 0 1 0 0 0 1
CHARGE association 0 0 0 0 0 0 1 1
Cerebellar ataxia, nonprogressive, with mental retardation 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
Chromosome Xq26.3 duplication syndrome 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 3 0 0 0 1 0 0 0 1
Ciliary dyskinesia, primary, 7 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
Deafness, autosomal dominant 56 0 0 0 0 0 0 1 1
Deep venous thrombosis 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
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 0 0 0 0 0 0 1 1
Duchenne muscular dystrophy 0 0 0 1 0 0 1 1
Ductal breast carcinoma 0 0 0 0 0 0 1 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 0 0 0 1 0 0 0 1
Early infantile epileptic encephalopathy 0 0 0 1 0 0 1 1
Ebstein anomaly of the tricuspid valve; Growth hormone deficiency; Intellectual disability, mild 0 0 0 0 0 0 1 1
Ehlers-Danlos syndrome, classic type 0 2 0 0 0 0 1 1
Encephalopathy 0 0 0 0 0 0 1 1
Epilepsy 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, focal, with speech disorder and with or without mental retardation 0 0 0 0 0 0 1 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
Factor X deficiency 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 1 0 0 0 1 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 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
Focal seizures 0 0 0 1 0 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 0 0 1 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 1 0 0 0 1
Glioma 0 0 0 1 0 0 0 1
Global developmental delay 0 0 0 0 0 0 1 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; Microcephaly; Abnormality of the cerebellum 0 0 0 1 0 0 0 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 1 0 0 0 1
Growth abnormality 0 0 0 0 0 0 1 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 1 1
Hereditary factor IX deficiency disease 0 0 0 1 0 0 0 1
Hereditary factor XI deficiency disease 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 basal ganglia calcification 1 0 0 0 1 0 0 0 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 0 0 1 1
Imatinib response 0 0 0 0 0 1 0 1
Infantile nephronophthisis 0 0 0 1 0 0 0 1
Inherited Immunodeficiency Diseases 0 0 0 1 0 0 0 1
Intellectual disability 0 0 0 1 0 0 0 1
Intellectual disability, mild 0 0 0 0 0 0 1 1
Internal malformations 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 myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 0 0 0 1 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
Kallmann syndrome 1 0 0 0 0 0 0 1 1
Keratoconus 0 0 0 0 0 0 1 1
Kidney Disease; Tooth agenesis 0 0 0 0 0 0 1 1
Kleefstra syndrome 2 0 0 0 1 0 0 0 1
Leber congenital amaurosis 0 0 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 0 0 0 0 1 1
Leri Weill dyschondrosteosis 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 1 0 0 0 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 0 0 1 1
Macrothrombocytopenia 0 0 0 1 0 0 0 1
Majeed syndrome 0 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
Marfanoid habitus and intellectual disability 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
Mental retardation, autosomal dominant 26 0 0 0 0 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 1 0 0 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 0 0 1 1
Mirror movements 1 0 0 0 0 0 0 1 1
Mitochondrial complex I deficiency 0 0 0 0 0 0 1 1
Multiple epiphyseal dysplasia 5 0 0 0 1 0 0 0 1
Muscle dystrophy 0 0 0 1 0 0 0 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 1 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
Osteogenesis imperfecta with normal sclerae, dominant form 0 6 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
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 0 0 1 1
Plasminogen activator inhibitor type 1 deficiency 0 0 0 0 0 0 1 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 0 0 0 0 1 1
Premature ovarian failure 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 0 0 1 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
Pulmonary arterial hypertension 0 0 0 1 0 0 0 1
Reduced antithrombin III activity 0 0 0 1 0 0 0 1
Reduced protein S activity 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
Rod-cone dystrophy; Hypomagnesemia 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 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
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 1 0 0 0 1
Skeletal dysplasia 0 0 0 1 0 0 1 1
Spastic paraplegia 0 0 0 1 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
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Squamous cell carcinoma of the head and neck 0 0 0 1 0 0 0 1
Stargardt disease 1 0 0 0 1 0 0 0 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 0 0 1
Thrombocytopenia 0 0 0 1 0 0 0 1
Treacher Collins syndrome 1 0 0 0 1 0 0 0 1
Trichorhinophalangeal dysplasia type I 0 0 0 0 0 0 1 1
Usher syndrome 0 0 0 1 0 0 0 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 0 0 1 1
Visceral myopathy 0 0 0 1 0 0 0 1
Witteveen-kolk syndrome 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1862_1865del (p.Pro621fs) rs72651620
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2181G>A (p.Gln727=) rs777571745
NM_000088.3(COL1A1):c.2450del (p.Pro817fs) rs193922149
NM_000088.3(COL1A1):c.2685del (p.Gly896fs) rs193922151
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.3045+3G>A rs41316695
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3196C>T (p.Arg1066Cys) rs72654799
NM_000088.3(COL1A1):c.3277C>T (p.Arg1093Cys) rs72656307
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681
NM_000088.3(COL1A1):c.3945C>T (p.Ser1315=) rs766059440
NM_000088.3(COL1A1):c.4239T>A (p.Asp1413Glu) rs754555549
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.3(COL1A1):c.658C>T (p.Arg220Ter) rs72667036
NM_000088.3(COL1A1):c.671G>T (p.Gly224Val) rs1555574641
NM_000088.3(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
Single allele

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