ClinVar Miner

Variants from Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Location: Colombia  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
31 30 2 0 0 63

Gene and significance breakdown #

Total genes and gene combinations: 56
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCB11 1 1 0 2
BRCA1 2 0 0 2
BRCA2 1 1 0 2
FBN1 0 2 0 2
GALNS 1 1 0 2
SLC10A1 2 0 0 2
TP53 2 0 0 2
ABCC8 0 1 0 1
ANK2 1 0 0 1
ANKRD11 1 0 0 1
APC 0 1 0 1
ATM 0 1 0 1
ATP6V1A 0 1 0 1
BAP1 1 0 0 1
BMPR2 1 0 0 1
BRIP1 1 0 0 1
CAST, LOC101929710, PCSK1 0 1 0 1
CFTR 1 0 0 1
CFTR, LOC111674475 1 0 0 1
CHD7 1 0 0 1
CSNK2A1 0 1 0 1
CYLD 1 0 0 1
EFTUD2 0 1 0 1
FANCA 1 0 0 1
FGA 0 1 0 1
FLNB 1 0 0 1
FOXL2 0 1 0 1
GLI3 0 1 0 1
GRIN2B 1 0 0 1
HBB, LOC107133510, LOC110006319 1 0 0 1
HPGD 0 1 0 1
JAK1 0 1 0 1
LIPC 0 1 0 1
LOC100287944, POLR3B 0 1 0 1
LOC100507346, PTCH1 1 0 0 1
LOC107982234, WT1 0 1 0 1
MCM8 0 1 0 1
MLH1 0 1 0 1
MSH6 0 1 0 1
MUTYH 0 1 0 1
NF1 0 1 0 1
NLRP3 0 1 0 1
PANK2 1 0 0 1
PCNT 1 0 0 1
POLG, POLGARF 1 0 0 1
PROS1 0 1 0 1
REEP6 0 1 0 1
RET 0 1 0 1
SGCG 1 0 0 1
SH3TC2 1 0 0 1
SPTA1 1 0 0 1
SPTAN1 0 0 1 1
TERT 0 1 0 1
TRAPPC9 1 0 0 1
VWF 0 0 1 1
WT1 1 0 0 1

Condition and significance breakdown #

Total conditions: 55
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Condition pathogenic likely pathogenic uncertain significance total
Familial cancer of breast 2 1 0 3
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2 0 0 2
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2 0 0 2
Hypercholanemia, familial, 2 2 0 0 2
Mucopolysaccharidosis, MPS-IV-A 1 1 0 2
Wilms tumor 1 1 1 0 2
Autoinflammation, immune dysregulation, and eosinophilia 0 1 0 1
Autosomal recessive cutis laxa type 2D; Epileptic encephalopathy, infantile or early childhood, 3 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 0 1
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 1 0 0 1
Body mass index quantitative trait locus 12; Obesity due to prohormone convertase I deficiency 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 1
Brooke-Spiegler syndrome; Familial cylindromatosis; Trichoepithelioma, multiple familial, 1 1 0 0 1
CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 1 0 0 1
Cardiac arrhythmia, ankyrin-B-related 1 0 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 1 0 1
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation 0 1 0 1
Colorectal cancer, hereditary nonpolyposis, type 2 0 1 0 1
Developmental delay with or without epilepsy 0 0 1 1
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB 1 0 0 1
Elliptocytosis 2 1 0 0 1
Endometrial carcinoma; Lynch syndrome 5 0 1 0 1
Familial adenomatous polyposis 1; Colorectal cancer 0 1 0 1
Familial adenomatous polyposis 2; Gastric cancer 0 1 0 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 1 0 0 1
Familial dysfibrinogenemia 0 1 0 1
Fanconi anemia complementation group A 1 0 0 1
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 0 1 0 1
Hirschsprung disease, susceptibility to, 1; Familial medullary thyroid carcinoma 0 1 0 1
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3 0 1 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 0 1 0 1
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration; Pigmentary pallidal degeneration 1 0 0 1
Intellectual disability, autosomal dominant 6 1 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 1
KBG syndrome 1 0 0 1
Larsen syndrome 1 0 0 1
Li-Fraumeni syndrome 1 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 1
Marfan syndrome 0 1 0 1
Melanoma, uveal, susceptibility to, 2; BAP1-related tumor predisposition syndrome; Kury-Isidor syndrome 1 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 1
Neurofibromatosis, type 1 0 1 0 1
Okur-Chung neurodevelopmental syndrome 0 1 0 1
Premature ovarian failure 10 0 1 0 1
Premature ovarian failure 3 0 1 0 1
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 1 0 1
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 1 0 0 1
Retinitis pigmentosa 77 0 1 0 1
Stiff skin syndrome 0 1 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 1 0 1
Type 2 diabetes mellitus 0 1 0 1
von Willebrand disease type 1; von Willebrand disease type 3; von Willebrand disease type 2 0 0 1 1

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