ClinVar Miner

Variants from Johns Hopkins Genomics,Johns Hopkins University

Location: United States — 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
62 31 83 31 23 230

Gene and significance breakdown #

Total genes and gene combinations: 84
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CFTR 22 5 9 5 5 46
ABCA3 3 1 12 6 2 24
ABCD1 12 5 6 0 0 23
GNAS 4 0 3 0 1 8
CFTR, LOC111674472 2 1 1 0 2 6
TERT 0 2 1 3 0 6
AP3B1 0 0 0 1 3 4
FOXF1 0 0 1 0 3 4
NKX2-1, SFTA3 1 1 2 0 0 4
SFTPC 0 0 1 2 1 4
CFTR, LOC111674475 3 0 0 0 0 3
CSF2RA 0 0 2 0 1 3
CSF2RB 0 0 3 0 0 3
TCOF1 2 0 1 0 0 3
CFTR, LOC111674477 0 0 1 0 1 2
CTC1 0 0 0 2 0 2
DKC1 0 0 0 2 0 2
FGFR2 2 0 0 0 0 2
GATA2 0 0 2 0 0 2
GTPBP3 0 0 1 0 1 2
HPS1 0 0 2 0 0 2
HPS4 0 0 0 2 0 2
KDM5B 0 1 1 0 0 2
NPHP3, NPHP3-ACAD11 1 1 0 0 0 2
PEX1 1 1 0 0 0 2
PEX6 0 1 1 0 0 2
RTEL1, RTEL1-TNFRSF6B 0 0 1 1 0 2
SAMD9L 0 0 2 0 0 2
SCNN1A 0 0 1 0 1 2
SCNN1B 0 0 1 1 0 2
SFTPB 0 0 1 0 1 2
SKIV2L 0 2 0 0 0 2
WRAP53 0 0 0 2 0 2
ADA2 1 0 0 0 0 1
ANLN 0 0 0 1 0 1
ATRIP, ATRIP-TREX1, TREX1 0 1 0 0 0 1
BPTF 0 1 0 0 0 1
CA12 0 0 0 0 1 1
CCDC114 0 0 1 0 0 1
CDH15 0 0 1 0 0 1
CFTR, LOC113664106 1 0 0 0 0 1
CFTR, LOC113664106, LOC113664107 1 0 0 0 0 1
CHD2 0 1 0 0 0 1
COL10A1, NT5DC1 0 1 0 0 0 1
COL1A1 0 0 1 0 0 1
COL4A3, MFF-DT 0 0 1 0 0 1
DNAH11 0 0 1 0 0 1
DNAJB13 0 0 0 1 0 1
ENG 0 0 1 0 0 1
EYA1 0 0 1 0 0 1
FGA 0 0 1 0 0 1
FGFR3 1 0 0 0 0 1
FLCN 0 0 1 0 0 1
FLG 1 0 0 0 0 1
FN1 0 0 1 0 0 1
GATAD2B 0 1 0 0 0 1
HMBS 0 0 0 1 0 1
HYDIN 0 0 1 0 0 1
IDUA 0 1 0 0 0 1
KDM5C 0 0 1 0 0 1
KMT2D 1 0 0 0 0 1
LBR 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107303340, VHL 1 0 0 0 0 1
LOC110806306, TERC 0 0 1 0 0 1
MTMR14 0 0 1 0 0 1
NDUFB11 0 0 1 0 0 1
NKX2-1 0 0 0 1 0 1
NSD1 1 0 0 0 0 1
PKD1 0 0 1 0 0 1
PKLR 0 1 0 0 0 1
PKP2 1 0 0 0 0 1
POLG 0 0 1 0 0 1
PTEN 0 1 0 0 0 1
RPS26 0 0 1 0 0 1
SALL1 0 0 1 0 0 1
SCNN1G 0 0 1 0 0 1
SFTPA1 0 0 1 0 0 1
SFTPA2 0 0 1 0 0 1
STAG1 0 1 0 0 0 1
STX11 0 0 1 0 0 1
TNFRSF11B 0 0 1 0 0 1
TUBA1A 0 1 0 0 0 1
WNK4 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 81
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cystic fibrosis 29 6 11 5 8 59
Surfactant metabolism dysfunction, pulmonary, 3 3 1 12 6 2 24
Adrenoleukodystrophy 12 5 6 0 0 23
Pseudohypoparathyroidism 4 0 2 0 1 7
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 0 1 2 1 0 4
Dyskeratosis congenita, autosomal dominant, 2 0 1 0 3 0 4
Hermansky Pudlak syndrome 2 0 0 0 1 3 4
Persistent fetal circulation 0 0 1 0 3 4
Surfactant metabolism dysfunction, pulmonary, 2 0 0 1 2 1 4
Pseudohypoaldosteronism type 1 autosomal recessive 0 0 2 0 1 3
Surfactant metabolism dysfunction, pulmonary, 4 0 0 2 0 1 3
Surfactant metabolism dysfunction, pulmonary, 5 0 0 3 0 0 3
Treacher Collins syndrome 1 2 0 1 0 0 3
Cerebroretinal microangiopathy with calcifications and cysts 1 0 0 0 2 0 2
Combined oxidative phosphorylation deficiency 23 0 0 1 0 1 2
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency 0 0 2 0 0 2
Dyskeratosis congenita X-linked 0 0 0 2 0 2
Dyskeratosis congenita, autosomal recessive, 3 0 0 0 2 0 2
Hermansky-Pudlak syndrome 1 0 0 2 0 0 2
Hermansky-Pudlak syndrome 4 0 0 0 2 0 2
Liddle syndrome 1 0 0 1 1 0 2
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 0 1 1 0 0 2
Meckel syndrome type 7 1 1 0 0 0 2
Myelocerebellar disorder 0 0 2 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 1 1 0 0 0 2
Peroxisome biogenesis disorder 4a (zellweger) 0 1 1 0 0 2
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 1 1 0 0 2
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 0 0 1 1 0 2
Surfactant metabolism dysfunction, pulmonary, 1 0 0 1 0 1 2
Trichohepatoenteric syndrome 2 0 2 0 0 0 2
Acrocephalosyndactyly type I 1 0 0 0 0 1
Acute intermittent porphyria 0 0 0 1 0 1
Aicardi Goutieres syndrome 1 0 1 0 0 0 1
Alport syndrome 3, autosomal dominant 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 9 1 0 0 0 0 1
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 0 0 1 0 0 1
Benign hereditary chorea; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 1 0 0 0 0 1
Branchiootic syndrome 0 0 1 0 0 1
Ciliary dyskinesia, primary, 20 0 0 1 0 0 1
Ciliary dyskinesia, primary, 34 0 0 0 1 0 1
Ciliary dyskinesia, primary, 5 0 0 1 0 0 1
Ciliary dyskinesia, primary, 7 0 0 1 0 0 1
Diamond-Blackfan anemia 10 0 0 1 0 0 1
Ehlers-Danlos-like syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Epileptic encephalopathy, childhood-onset 0 1 0 0 0 1
Familial visceral amyloidosis, Ostertag type 0 0 1 0 0 1
Focal segmental glomerulosclerosis 8 0 0 0 1 0 1
Glomerulopathy with fibronectin deposits 2 0 0 1 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 4 0 0 1 0 0 1
Hereditary hemorrhagic telangiectasia type 1 0 0 1 0 0 1
Hurler syndrome 0 1 0 0 0 1
Hyperchlorhidrosis, isolated 0 0 0 0 1 1
Hyperphosphatasemia with bone disease 0 0 1 0 0 1
Ichthyosis vulgaris 1 0 0 0 0 1
Idiopathic fibrosing alveolitis, chronic form 0 0 1 0 0 1
Kabuki syndrome 1 1 0 0 0 0 1
Lissencephaly 3 0 1 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 0 1 0 0 0 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 0 0 1 0 0 1
Macrocephaly/autism syndrome 0 1 0 0 0 1
Mental retardation, autosomal dominant 18 0 1 0 0 0 1
Mental retardation, autosomal dominant 3 0 0 1 0 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 0 0 1 0 0 1
Metaphyseal chondrodysplasia, Schmid type 0 1 0 0 0 1
Multiple fibrofolliculomas 0 0 1 0 0 1
Myopathy, centronuclear, 1 0 0 1 0 0 1
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 0 1 0 0 0 1
Osteogenesis imperfecta type I 0 0 1 0 0 1
Pelger-Huët anomaly 0 0 1 0 0 1
Pfeiffer syndrome 1 0 0 0 0 1
Polyarteritis nodosa, childhoood-onset 1 0 0 0 0 1
Polycystic kidney disease, adult type 0 0 1 0 0 1
Pseudohypoaldosteronism type 2B 0 0 1 0 0 1
Pseudohypoparathyroidism type 1B 0 0 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 0 0 1 0 0 1
Pyruvate kinase deficiency of red cells 0 1 0 0 0 1
Respiratory distress associated with prematurity 0 0 1 0 0 1
Sotos syndrome 1 1 0 0 0 0 1
Thanatophoric dysplasia type 1 1 0 0 0 0 1
Townes-Brocks syndrome 1 0 0 1 0 0 1
Von Hippel-Lindau syndrome 1 0 0 0 0 1

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