ClinVar Miner

Variants from Mendelics

Location: Brazil — Primary collection method: clinical testing
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
489 153 1470 71 10 2193

Gene and significance breakdown #

Total genes and gene combinations: 154
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CFTR 149 23 41 0 0 213
BRCA2 58 13 122 8 1 202
BRCA1 52 6 50 6 1 115
APC 6 3 94 5 1 109
ATM 14 1 74 6 1 96
MSH6 1 4 70 4 0 79
PALB2 18 7 49 3 0 77
ATM, C11orf65 12 4 52 0 0 68
BRIP1 3 5 57 0 0 65
CHEK2 3 9 47 0 1 60
BLM 5 3 44 3 0 55
MET 1 0 48 4 1 54
MSH2 8 0 42 0 2 52
BARD1 3 1 44 2 0 50
RET 1 0 43 2 2 48
POLE 0 0 46 0 0 46
MUTYH 11 3 30 1 0 45
MLH1 5 4 31 3 0 43
CFTR, LOC111674472 27 2 13 0 0 42
RAD51D, RAD51L3-RFFL 3 2 34 1 0 40
PMS2 1 2 33 1 0 37
NF1 2 1 31 2 0 36
CDH1 2 1 25 4 0 32
NBN 2 0 26 2 0 30
TP53 9 4 16 0 0 29
RECQL 2 2 19 2 0 25
EGFR 0 0 24 0 0 24
STK11 1 1 22 0 0 24
RAD51C 2 4 15 0 0 21
NF2 0 0 19 1 0 20
NTRK1 1 0 18 0 0 19
POLD1 0 0 17 0 0 17
MEN1 2 2 12 0 0 16
XRCC2 0 0 15 1 0 16
PTEN 0 1 14 0 0 15
AOPEP, FANCC 2 1 10 1 0 14
BAP1 1 0 12 1 0 14
LOC107982234, WT1 1 0 13 0 0 14
SDHB 1 1 12 0 0 14
CDKN2A 0 0 11 2 0 13
RB1 0 0 12 1 0 13
CFTR, LOC111674475 11 1 0 0 0 12
FANCC 2 0 8 2 0 12
AKT1 0 0 8 0 0 8
PIK3CA 0 0 8 0 0 8
CDK4 0 0 6 0 0 6
CFTR, LOC111674477 2 2 2 0 0 6
WT1 1 0 4 1 0 6
PYROXD1, RECQL 0 0 5 0 0 5
CDK4, TSPAN31 0 0 4 0 0 4
INSRR, NTRK1 0 0 4 0 0 4
SCN8A 2 1 0 0 0 3
ATP1A2 0 2 0 0 0 2
BRCA2, LOC106721785 0 0 2 0 0 2
CACNA1A 2 0 0 0 0 2
CDKL5 2 0 0 0 0 2
CFTR, LOC113664106 2 0 0 0 0 2
CLN5, FBXL3 1 1 0 0 0 2
ELANE 1 1 0 0 0 2
GLB1 1 0 1 0 0 2
KMT2E 0 2 0 0 0 2
LAMA2 1 1 0 0 0 2
MYO5B 1 1 0 0 0 2
NOTCH3 2 0 0 0 0 2
SCN1A 2 0 0 0 0 2
TCF4 2 0 0 0 0 2
TERT 0 0 2 0 0 2
AAAS 1 0 0 0 0 1
ABCB4 0 1 0 0 0 1
ACTC1, LOC101928174 1 0 0 0 0 1
ADCY5 1 0 0 0 0 1
ADSL 0 1 0 0 0 1
AGL 1 0 0 0 0 1
AHI1 0 1 0 0 0 1
ALS2 1 0 0 0 0 1
ANKRD11 1 0 0 0 0 1
ATL1 1 0 0 0 0 1
ATP7A 1 0 0 0 0 1
BRAF 1 0 0 0 0 1
BRAT1 1 0 0 0 0 1
BRCA1, LOC111589215 0 0 1 0 0 1
C3 0 1 0 0 0 1
CASK 1 0 0 0 0 1
CASR 0 1 0 0 0 1
CC2D2A 0 1 0 0 0 1
CEP85L, PLN 0 0 1 0 0 1
CFTR, LOC111674463 1 0 0 0 0 1
CFTR, LOC111674467, LOC111674468, LOC111674477, LOC113633874, LOC113633875, LOC113633876, LOC113633877 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 1
CLCN1 0 0 1 0 0 1
CLN6 1 0 0 0 0 1
CLN8 0 1 0 0 0 1
COL4A1 0 1 0 0 0 1
COL5A2 0 0 1 0 0 1
COL6A1 0 0 1 0 0 1
COL6A3 0 0 1 0 0 1
COQ8A 1 0 0 0 0 1
CYBB 0 1 0 0 0 1
CYP2U1 1 0 0 0 0 1
DDC 1 0 0 0 0 1
DES 1 0 0 0 0 1
DGUOK 0 1 0 0 0 1
DNAJB2 1 0 0 0 0 1
DOCK6, LOC105372273 0 1 0 0 0 1
DYNC1H1 1 0 0 0 0 1
ELN 0 1 0 0 0 1
EP300 1 0 0 0 0 1
FA2H 0 1 0 0 0 1
GABRA1 1 0 0 0 0 1
GALNS, TRAPPC2L 0 1 0 0 0 1
GRIN2A 0 0 0 1 0 1
HSD17B4 0 1 0 0 0 1
IFT80, TRIM59-IFT80 0 1 0 0 0 1
IRF6 1 0 0 0 0 1
KCNQ2 1 0 0 0 0 1
KLHL3 0 1 0 0 0 1
KMT2D 1 0 0 0 0 1
LMNA 1 0 0 0 0 1
LOC102724058, SCN1A 0 1 0 0 0 1
MECP2 1 0 0 0 0 1
MFN2 1 0 0 0 0 1
MLC1 1 0 0 0 0 1
MOCS1 0 0 0 1 0 1
NEXMIF 0 1 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
NR4A2 0 1 0 0 0 1
NSD1 1 0 0 0 0 1
OPA1 0 1 0 0 0 1
PAFAH1B1 0 1 0 0 0 1
PAH 1 0 0 0 0 1
PDHA1 1 0 0 0 0 1
PDYN 0 0 1 0 0 1
PHKA2 1 0 0 0 0 1
PLA2G6 0 1 0 0 0 1
PNKP 1 0 0 0 0 1
PRICKLE1 0 1 0 0 0 1
RNF170 0 0 1 0 0 1
SACS 0 1 0 0 0 1
SCN1A, SCN9A 1 0 0 0 0 1
SCN2A 0 0 1 0 0 1
SDHA 0 1 0 0 0 1
SLC19A3 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 1
SSR4 0 1 0 0 0 1
SUOX 0 1 0 0 0 1
SYNGAP1 1 0 0 0 0 1
TMPRSS15 1 0 0 0 0 1
TUBA1A 1 0 0 0 0 1
UBE4A 0 1 0 0 0 1
USH2A 0 1 0 0 0 1
VCP 0 1 0 0 0 1
WNT1 1 0 0 0 0 1
ZEB2 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 131
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary breast and ovarian cancer syndrome 115 25 224 15 2 381
Cystic fibrosis 195 28 56 0 0 279
Lynch syndrome 15 10 175 8 2 210
Ataxia-telangiectasia syndrome 26 5 126 6 1 164
Hereditary cancer-predisposing syndrome 20 9 81 5 0 115
Familial cancer of breast 6 10 92 2 1 111
Familial adenomatous polyposis 1 6 3 93 5 1 108
Fanconi anemia, complementation group J 3 5 57 0 0 65
Familial colorectal cancer 0 0 63 0 0 63
Bloom syndrome 5 3 44 3 0 55
Renal cell carcinoma, papillary, 1 1 0 48 4 1 54
Multiple endocrine neoplasia, type 2a 1 0 43 2 2 48
MYH-associated polyposis 11 3 30 1 0 45
Neurofibromatosis, type 1 2 1 31 2 0 36
Hereditary diffuse gastric cancer 2 1 25 4 0 32
Microcephaly, normal intelligence and immunodeficiency 2 0 26 2 0 30
Li-Fraumeni syndrome 9 4 16 0 0 29
Fanconi anemia, complementation group C 4 1 18 3 0 26
Hereditary cancer 0 0 24 0 0 24
Peutz-Jeghers syndrome 1 1 22 0 0 24
Familial medullary thyroid carcinoma 1 0 22 0 0 23
Neurofibromatosis, type 2 0 0 19 1 0 20
Wilms tumor 1 2 0 17 1 0 20
Hereditary Cancer Syndrome 0 0 17 1 0 18
Multiple endocrine neoplasia, type 1 2 2 12 0 0 16
PTEN hamartoma tumor syndrome 0 1 14 0 0 15
Cowden syndrome 1 1 12 0 0 14
Tumor susceptibility linked to germline BAP1 mutations 1 0 12 1 0 14
Cutaneous malignant melanoma 2 0 0 11 2 0 13
Retinoblastoma 0 0 12 1 0 13
Cutaneous malignant melanoma 3 0 0 10 0 0 10
Cowden syndrome 6 0 0 8 0 0 8
Early infantile epileptic encephalopathy 13 2 1 0 0 0 3
Generalized epilepsy with febrile seizures plus, type 2 2 1 0 0 0 3
Bethlem myopathy 1 0 0 2 0 0 2
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2 0 0 0 0 2
Ceroid lipofuscinosis neuronal 5 1 1 0 0 0 2
Congenital microvillous atrophy 1 1 0 0 0 2
Early infantile epileptic encephalopathy 2 2 0 0 0 0 2
Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis 0 2 0 0 0 2
Merosin deficient congenital muscular dystrophy 1 1 0 0 0 2
Pitt-Hopkins syndrome 2 0 0 0 0 2
Adams-Oliver syndrome 2 0 1 0 0 0 1
Adenylosuccinate lyase deficiency 0 1 0 0 0 1
Asphyxiating thoracic dystrophy 2 0 1 0 0 0 1
Ataxia, sensory, autosomal dominant 0 0 1 0 0 1
Ataxia-oculomotor apraxia 4 1 0 0 0 0 1
Atypical hemolytic-uremic syndrome 5 0 1 0 0 0 1
Autosomal dominant optic atrophy plus syndrome 0 1 0 0 0 1
Benign scapuloperoneal muscular dystrophy with cardiomyopathy 1 0 0 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 1 0 0 0 1
Biotin-thiamine-responsive basal ganglia disease 1 0 0 0 0 1
Brain small vessel disease with hemorrhage 0 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 0 1
Ceroid lipofuscinosis neuronal 6 1 0 0 0 0 1
Ceroid lipofuscinosis neuronal 8 0 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2A2A 1 0 0 0 0 1
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 1 0 0 0 0 1
Chronic and progressive ataxia 1 0 0 0 0 1
Chronic granulomatous disease, X-linked 0 1 0 0 0 1
Coenzyme Q10 deficiency, primary, 4 1 0 0 0 0 1
Congenital disorder of glycosylation type 1y 0 1 0 0 0 1
Congenital myotonia, autosomal dominant form 0 0 1 0 0 1
Cutis laxa, autosomal dominant 1 0 1 0 0 0 1
Cyclical neutropenia 0 1 0 0 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 1 0 0 0 0 1
Dilated cardiomyopathy 1R 1 0 0 0 0 1
Dyskinesia, familial, with facial myokymia 1 0 0 0 0 1
Early infantile epileptic encephalopathy 11 0 0 1 0 0 1
Early infantile epileptic encephalopathy 7 1 0 0 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 1 0 0 1
Enterokinase deficiency 1 0 0 0 0 1
Epilepsy 0 1 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 1 0 1
Epilepsy; Moderate global developmental delay; Rare pervasive developmental disorder 0 1 0 0 0 1
Epilepsy; intellectual deficiency 0 1 0 0 0 1
Epileptic encephalopathy, early infantile, 19 1 0 0 0 0 1
Episodic ataxia type 2 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 18 0 0 1 0 0 1
GLUT1 deficiency syndrome 1 1 0 0 0 0 1
Glucocorticoid deficiency with achalasia 1 0 0 0 0 1
Glycogen storage disease type III 1 0 0 0 0 1
Glycogen storage disease type IXa1 1 0 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 5 0 0 1 0 0 1
Hypocalcemia, autosomal dominant 1 0 1 0 0 0 1
Inclusion body myopathy with early-onset paget disease and frontotemporal dementia 0 1 0 0 0 1
Indifference to pain, congenital, autosomal recessive 1 0 0 0 0 1
Infantile GM1 gangliosidosis 1 0 0 0 0 1
Infantile neuroaxonal dystrophy 0 1 0 0 0 1
Infantile-onset ascending hereditary spastic paralysis 1 0 0 0 0 1
Joubert syndrome 3 0 1 0 0 0 1
Joubert syndrome 9 0 1 0 0 0 1
KBG syndrome 1 0 0 0 0 1
Kabuki syndrome 1 1 0 0 0 0 1
Leukoencephalopathy; Macrocephalus; intellectual deficiency 0 1 0 0 0 1
Lissencephaly 1 0 1 0 0 0 1
Lissencephaly 3 1 0 0 0 0 1
Lynch syndrome I 0 0 1 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 0 0 0 0 1
Menkes kinky-hair syndrome 1 0 0 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 0 1
Mental retardation, X-linked 98 0 1 0 0 0 1
Mental retardation, autosomal dominant 5 1 0 0 0 0 1
Mitochondrial DNA-depletion syndrome 3, hepatocerebral 0 1 0 0 0 1
Mitochondrial complex II deficiency 0 1 0 0 0 1
Molybdenum cofactor deficiency, complementation group A 0 0 0 1 0 1
Mowat-Wilson syndrome 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-IV-A 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-B 0 0 1 0 0 1
Myofibrillar myopathy 1 1 0 0 0 0 1
Neutropenia, severe congenital 1, autosomal dominant 1 0 0 0 0 1
Osteogenesis imperfecta, type xv 1 0 0 0 0 1
Phenylketonuria 1 0 0 0 0 1
Progressive familial intrahepatic cholestasis 3 0 1 0 0 0 1
Progressive myoclonus epilepsy with ataxia 0 1 0 0 0 1
Pseudohypoaldosteronism type 2D 0 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 1
Rett syndrome 1 0 0 0 0 1
Rigidity and multifocal seizure syndrome, lethal neonatal 1 0 0 0 0 1
Rubinstein-Taybi syndrome 2 1 0 0 0 0 1
Sotos syndrome 1 1 0 0 0 0 1
Spastic ataxia Charlevoix-Saguenay type 0 1 0 0 0 1
Spastic paraplegia 3 1 0 0 0 0 1
Spastic paraplegia 35 0 1 0 0 0 1
Spastic paraplegia 56, autosomal recessive 1 0 0 0 0 1
Spinal muscular atrophy, distal, autosomal recessive, 5 1 0 0 0 0 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Mental retardation, autosomal dominant 13 1 0 0 0 0 1
Spinocerebellar ataxia 23 0 0 1 0 0 1
Sulfite oxidase deficiency 0 1 0 0 0 1
Usher syndrome, type 2A 0 1 0 0 0 1
Van der Woude syndrome 1 0 0 0 0 1

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