ClinVar Miner

Variants with conflicting interpretations studied for Marfan syndrome

Coded as:
Minimum review status of the submission for Marfan syndrome: Y axis collection method of the submission for Marfan 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
827 365 4 195 68 1 68 303

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
Marfan syndrome pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 0 67 12 1 1 1 1
likely pathogenic 115 0 32 0 0 0 0
uncertain significance 17 26 4 51 17 0 0
likely benign 2 1 30 0 58 0 0
benign 1 1 8 17 0 0 0

Condition to condition summary #

Total conditions: 200
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 0 111 2 100 38 0 26 156
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 105 1 63 8 0 30 100
not specified 0 71 0 54 37 0 9 93
Marfan syndrome 1331 73 1 62 18 0 13 91
Cardiovascular phenotype 0 68 1 55 18 0 11 79
Thoracic aortic aneurysm and aortic dissection 0 243 0 46 29 0 9 77
Acromicric dysplasia 0 144 0 11 12 0 0 20
Ectopia lentis 0 142 0 11 12 0 0 20
Geleophysic dysplasia 0 143 0 11 12 0 0 20
Stiff skin syndrome 0 144 0 11 11 0 0 20
MASS syndrome 0 144 0 10 11 0 1 19
Weill-Marchesani syndrome 0 143 0 10 11 0 0 19
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 17 0 13 0 0 5 18
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 8 1 12 2 0 2 16
Connective tissue disorder 0 5 0 6 4 0 0 8
Loeys-Dietz syndrome 0 88 0 5 3 0 0 6
Familial thoracic aortic aneurysm; Acute aortic dissection 0 1 0 2 1 0 2 5
Inborn genetic diseases 0 1 0 1 1 0 1 3
Congenital aneurysm of ascending aorta 0 0 0 1 1 0 0 2
Ectopia lentis, isolated, autosomal dominant 0 2 0 2 0 0 0 2
Familial colorectal cancer 0 0 0 0 0 0 2 2
Marfan syndrome, autosomal recessive 0 0 0 2 0 0 1 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
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 1 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
Dilatation of ascending aorta; Scoliosis; Tall stature; Joint hypermobility; Severe Myopia; Aortic aneurysm 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 3 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 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 nonpolyposis colorectal cancer type 6 0 0 0 0 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
High palate; Arachnodactyly; Lens subluxation; Aortic dissection 0 0 0 1 0 0 0 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
Ischemic stroke; Arachnodactyly; Aortic root dilatation; Dissecting aortic dilatation; Melanoma; Severe Myopia; Ectopia lentis 0 0 0 1 0 0 0 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
Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 0 0 0 0 1 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
Marfan lipodystrophy syndrome 0 1 0 1 0 0 0 1
Marfan syndrome, atypical 0 0 0 1 0 0 0 1
Marfan syndrome, mild 0 0 0 0 0 0 1 1
Marfan syndrome, neonatal 0 1 0 1 0 0 0 1
Marfanoid habitus 0 0 0 0 1 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
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
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: 303
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.-176A>T rs560004254
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.4(FBN1):c.1148-2A>G rs397515756
NM_000138.4(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.4(FBN1):c.1211del (p.Pro404fs) rs112289537
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.4(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1481G>C (p.Cys494Ser) rs1057518881
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.4(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.4(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.4(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1634G>A (p.Arg545His) rs193922179
NM_000138.4(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.4(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.4(FBN1):c.1726T>G (p.Cys576Gly) rs794728174
NM_000138.4(FBN1):c.1727G>A (p.Cys576Tyr) rs1555399974
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.1837+5G>A rs1445085747
NM_000138.4(FBN1):c.1837+9T>C rs56102085
NM_000138.4(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.4(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.4(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.4(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.4(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.4(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.4(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.4(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.4(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.4(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.4(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.4(FBN1):c.2420-58del rs149403312
NM_000138.4(FBN1):c.2420-8T>C rs140582
NM_000138.4(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.4(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.4(FBN1):c.2547C>G (p.Ile849Met) rs778258207
NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.2669G>A (p.Cys890Tyr) rs1555399144
NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.4(FBN1):c.2678-12T>C rs200368037
NM_000138.4(FBN1):c.2678-3C>T rs747274959
NM_000138.4(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.4(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.4(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_000138.4(FBN1):c.2927G>A (p.Arg976His) rs140954477
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3077T>C (p.Phe1026Ser) rs200381100
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3184G>A (p.Asp1062Asn) rs758366498
NM_000138.4(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.4(FBN1):c.3337+11G>A rs368726848
NM_000138.4(FBN1):c.3337+1G>A rs397515789
NM_000138.4(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.3379G>A (p.Gly1127Ser) rs137854468
NM_000138.4(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.4(FBN1):c.3412T>C (p.Cys1138Arg) rs1131691806
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.4(FBN1):c.347-2A>G rs1555405056
NM_000138.4(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.4(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.4(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.4(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450
NM_000138.4(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.4(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.396T>C (p.Asp132=) rs147481356
NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.4(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.4(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.4(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.4(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.4(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.4(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4151T>C (p.Met1384Thr) rs1555397658
NM_000138.4(FBN1):c.4210+1G>A rs730880106
NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368
NM_000138.4(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.4(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.4(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.4(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.4(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.4337-1G>T rs1555397424
NM_000138.4(FBN1):c.4337-2A>G rs794728216
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.4(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.4(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.4(FBN1):c.4747+5G>C rs193922209
NM_000138.4(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.4(FBN1):c.4816+1G>T rs1555397014
NM_000138.4(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.4937G>A (p.Cys1646Tyr) rs397515814
NM_000138.4(FBN1):c.4943-1G>A rs1555396863
NM_000138.4(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.4(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.4(FBN1):c.5065+1G>C rs1296209846
NM_000138.4(FBN1):c.5073_5075AAG[1] (p.Arg1692del) rs1555396789
NM_000138.4(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5142G>A (p.Met1714Ile) rs368287795
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.5297-19A>G rs375665466
NM_000138.4(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.538+4A>G rs375721252
NM_000138.4(FBN1):c.539-15del rs193922211
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.4(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.4(FBN1):c.5587G>A (p.Gly1863Arg) rs1555395987
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.5672-15C>G rs776163620
NM_000138.4(FBN1):c.5672-3T>C rs193922217
NM_000138.4(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.4(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.4(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.4(FBN1):c.5788+10C>A rs371560107
NM_000138.4(FBN1):c.5788+5G>A rs193922219
NM_000138.4(FBN1):c.5788+5G>T rs193922219
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6038-15_6038-14delAT rs752198920
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
NM_000138.4(FBN1):c.6164-2A>G rs794728244
NM_000138.4(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) rs200816828
NM_000138.4(FBN1):c.6313+2T>C rs1555395257
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.4(FBN1):c.6379+1G>A rs397515833
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.4(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.4(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.4(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.4(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.4(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.4(FBN1):c.6953G>A (p.Cys2318Tyr) rs1555394626
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.6998-40del rs193922229
NM_000138.4(FBN1):c.7016G>A (p.Cys2339Tyr) rs1555394580
NM_000138.4(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.4(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.4(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.4(FBN1):c.7149_7150TG[1] (p.Val2384fs) rs869025423
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.4(FBN1):c.7205-1G>A rs794728266
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014
NM_000138.4(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.4(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.4(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.4(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.4(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.4(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.4(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.4(FBN1):c.7819+1G>A rs112907302
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7879G>C (p.Gly2627Arg) rs193922239
NM_000138.4(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.7921C>T (p.Gln2641Ter) rs1555393866
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.4(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8311G>A (p.Val2771Ile) rs193922244
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.4(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.4(FBN1):c.8447A>C (p.His2816Pro) rs1555393532
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.4(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.4(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.