ClinVar Miner

Variants with conflicting interpretations studied for Cohen syndrome

Coded as:
Minimum review status of the submission for Cohen syndrome: Y axis collection method of the submission for Cohen syndrome:
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
487 71 19 87 59 1 12 155

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
Cohen syndrome pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 0 33 6 2 2 1 1
likely pathogenic 57 19 6 1 1 0 0
uncertain significance 4 6 0 47 22 0 0
likely benign 1 0 9 0 26 0 0
benign 0 1 3 14 0 0 0

Condition to condition summary #

Total conditions: 177
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 39 1 55 55 0 5 110
Cohen syndrome 597 48 19 43 4 0 10 68
History of neurodevelopmental disorder 0 21 0 17 21 0 3 39
not specified 0 34 0 18 20 0 3 38
Abnormality of the eye 0 0 0 1 0 0 1 2
Inborn genetic diseases 0 3 0 2 0 0 0 2
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
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
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
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 0 0 1 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
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
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
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
Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint laxity; Attention deficit hyperactivity disorder; Muscular hypotonia 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
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
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
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
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
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
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
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand 0 0 0 1 0 0 0 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
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
Thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 0 1 1
Thrombocytopenia 0 0 0 1 0 0 0 1
Treacher Collins syndrome 1 0 0 0 1 0 0 0 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: 155
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HGVS dbSNP
NM_015243.2(VPS13B):c.1041A>G (p.Ser347=) rs149176010
NM_015243.2(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_015243.2(VPS13B):c.1225G>T (p.Glu409Ter) rs386834071
NM_015243.2(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_015243.2(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_015243.2(VPS13B):c.1529G>A (p.Arg510His) rs771667880
NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_015243.2(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_015243.2(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_015243.2(VPS13B):c.1843+10T>C rs371154826
NM_015243.2(VPS13B):c.1915C>T (p.Arg639Ter) rs764776104
NM_015243.2(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356
NM_015243.2(VPS13B):c.2124T>C (p.Ala708=) rs201650333
NM_015243.2(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_015243.2(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_015243.2(VPS13B):c.2451T>C (p.His817=) rs114120664
NM_015243.2(VPS13B):c.292-2A>G rs386834079
NM_015243.2(VPS13B):c.358A>G (p.Ile120Val) rs201147123
NM_015243.2(VPS13B):c.365C>T (p.Pro122Leu) rs201723380
NM_015243.2(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_015243.2(VPS13B):c.916_917del (p.Asp306fs) rs386834117
NM_017890.4(VPS13B):c.10018G>A (p.Val3340Ile) rs116746734
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10156dup (p.Thr3386fs) rs386834055
NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) rs115369860
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) rs1057520769
NM_017890.4(VPS13B):c.10830C>T (p.Asp3610=) rs145950999
NM_017890.4(VPS13B):c.10888C>T (p.Gln3630Ter) rs120074154
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11007C>T (p.Asn3669=) rs745337140
NM_017890.4(VPS13B):c.11125del (p.Leu3709fs) rs386834058
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11169_11172dup (p.Arg3725fs) rs386834059
NM_017890.4(VPS13B):c.11256A>G (p.Arg3752=) rs138667007
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11571-2A>G rs1554588353
NM_017890.4(VPS13B):c.11640A>G (p.Ser3880=) rs7844645
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.11695_11698del (p.Ser3901fs) rs386834066
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.11862C>T (p.Asn3954=) rs147710096
NM_017890.4(VPS13B):c.11906_11915del (p.Pro3969fs) rs386834069
NM_017890.4(VPS13B):c.11907dup (p.Ser3970fs) rs180177374
NM_017890.4(VPS13B):c.11959C>G (p.Pro3987Ala) rs201483764
NM_017890.4(VPS13B):c.11972A>T (p.Lys3991Ile) rs117934093
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544
NM_017890.4(VPS13B):c.2651-10T>G rs398124330
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.2727_2730dup (p.Asn911fs) rs180177357
NM_017890.4(VPS13B):c.2760A>G (p.Leu920=) rs138661755
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.2934+14A>T rs187151724
NM_017890.4(VPS13B):c.2934+1_2934+2del rs180177358
NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) rs141637316
NM_017890.4(VPS13B):c.3083-8G>A rs201973611
NM_017890.4(VPS13B):c.3083-9C>T rs376659281
NM_017890.4(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.3204A>G (p.Thr1068=) rs140090983
NM_017890.4(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_017890.4(VPS13B):c.3243A>G (p.Pro1081=) rs34961653
NM_017890.4(VPS13B):c.3262C>G (p.Pro1088Ala) rs373965494
NM_017890.4(VPS13B):c.3297A>C (p.Thr1099=) rs200982547
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.3744A>G (p.Leu1248=) rs16897391
NM_017890.4(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) rs34941871
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.4197T>C (p.Gly1399=) rs149796549
NM_017890.4(VPS13B):c.4246C>T (p.Arg1416Ter) rs145741622
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.4300-6G>A rs199755508
NM_017890.4(VPS13B):c.4334del (p.Gln1445fs) rs386834084
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) rs120074151
NM_017890.4(VPS13B):c.4626C>G (p.Arg1542=) rs150376603
NM_017890.4(VPS13B):c.4820+2T>C rs386834091
NM_017890.4(VPS13B):c.4821-14C>T rs112780006
NM_017890.4(VPS13B):c.4821-7T>C rs201136777
NM_017890.4(VPS13B):c.4878_4880dup (p.Tyr1627Ter) rs180177359
NM_017890.4(VPS13B):c.4923G>A (p.Trp1641Ter) rs180177360
NM_017890.4(VPS13B):c.4936C>T (p.Pro1646Ser) rs563705133
NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) rs386834093
NM_017890.4(VPS13B):c.5215_5232del (p.Ser1739_Gln1744del) rs180177362
NM_017890.4(VPS13B):c.5461dup (p.Arg1821fs) rs180177364
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_017890.4(VPS13B):c.5590C>T (p.Gln1864Ter) rs1057516633
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.5753_5754del (p.Leu1918fs) rs886041586
NM_017890.4(VPS13B):c.5809_5810del (p.Ile1937fs) rs386834098
NM_017890.4(VPS13B):c.5816G>A (p.Arg1939Gln) rs150272676
NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) rs386834099
NM_017890.4(VPS13B):c.5920C>T (p.Arg1974Ter) rs180177365
NM_017890.4(VPS13B):c.5983+2dup rs587777381
NM_017890.4(VPS13B):c.6002del (p.Pro2001fs) rs755125969
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6530-4dup rs398124337
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6733-2A>G rs386834103
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.7038A>G (p.Val2346=) rs61753724
NM_017890.4(VPS13B):c.7126-1G>A rs930144563
NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) rs61753725
NM_017890.4(VPS13B):c.7292del (p.Asn2431fs) rs886041184
NM_017890.4(VPS13B):c.7322+2T>C rs1563908020
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.7504+1G>A rs386834106
NM_017890.4(VPS13B):c.7751T>C (p.Val2584Ala) rs7833870
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.7783G>A (p.Asp2595Asn) rs140179844
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.7855-19C>T rs199981958
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_017890.4(VPS13B):c.8025C>T (p.His2675=) rs61754503
NM_017890.4(VPS13B):c.8117_8118del (p.Gly2706fs) rs1554560735
NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) rs138453594
NM_017890.4(VPS13B):c.8436+12C>T rs886062546
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.8521-1G>T rs1554566596
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.8697-9A>G rs386834116
NM_017890.4(VPS13B):c.8945T>A (p.Leu2982Ter) rs727504219
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9070-2A>G rs1554569259
NM_017890.4(VPS13B):c.9260dupT (p.Leu3087Phefs) rs180177329
NM_017890.4(VPS13B):c.9405+10T>A rs75904081
NM_017890.4(VPS13B):c.9405+1G>C rs756013171
NM_017890.4(VPS13B):c.9405+9A>G rs184381851
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017890.4(VPS13B):c.9406-2A>T rs74485751
NM_017890.4(VPS13B):c.9424A>G (p.Ser3142Gly) rs113671330
NM_017890.4(VPS13B):c.9444C>T (p.Cys3148=) rs745668942
NM_017890.4(VPS13B):c.9547C>T (p.Gln3183Ter) rs753770252
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017890.4(VPS13B):c.9678A>G (p.Gly3226=) rs564362618
NM_017890.4(VPS13B):c.9760C>T (p.Arg3254Ter) rs941969577
NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) rs886041185
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs) rs774357106
NM_017890.4(VPS13B):c.9906G>A (p.Pro3302=) rs775601813
NM_152564.4(VPS13B):c.10379_10380AG[1] (p.Leu3462fs) rs180177371
NM_152564.4(VPS13B):c.11520del (p.Arg3840fs) rs747217399
NM_152564.4(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_152564.4(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer) rs1057516670
NM_152564.4(VPS13B):c.5349_5350AG[3] (p.Gln1785fs) rs180177363
NM_152564.4(VPS13B):c.5921_5922CT[1] (p.Leu1975fs) rs886041323
NM_152564.4(VPS13B):c.6009del (p.Phe2003fs) rs1357171752
Single allele

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