ClinVar Miner

Variants from Johns Hopkins Genomics,Johns Hopkins University

Location: United States — Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
10 4 17 12 7 50

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCA3 2 0 5 1 1 9
ABCD1 3 1 1 0 0 5
CFTR 1 1 0 1 2 5
AP3B1 0 0 0 1 2 3
NKX2-1, SFTA3 1 1 1 0 0 3
CSF2RA 0 0 1 0 1 2
CTC1 0 0 0 2 0 2
DKC1 0 0 0 2 0 2
GNAS 0 1 1 0 0 2
HPS1 0 0 2 0 0 2
TERT 0 0 0 2 0 2
WRAP53 0 0 0 2 0 2
CSF2RB 0 0 1 0 0 1
FGFR2 1 0 0 0 0 1
FOXF1 0 0 0 0 1 1
HPS4 0 0 0 1 0 1
KMT2D 1 0 0 0 0 1
LOC110806306, TERC 0 0 1 0 0 1
MTMR14 0 0 1 0 0 1
NSD1 1 0 0 0 0 1
SCNN1B 0 0 1 0 0 1
SFTPA2 0 0 1 0 0 1
SFTPB 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Surfactant metabolism dysfunction, pulmonary, 3 2 0 5 1 1 9
Adrenoleukodystrophy 3 1 1 0 0 5
Cystic fibrosis 1 1 0 1 2 5
Hermansky Pudlak syndrome 2 0 0 0 1 2 3
Cerebroretinal microangiopathy with calcifications and cysts 1 0 0 0 2 0 2
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 0 1 1 0 0 2
Dyskeratosis congenita X-linked 0 0 0 2 0 2
Dyskeratosis congenita, autosomal dominant, 2 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
Surfactant metabolism dysfunction, pulmonary, 4 0 0 1 0 1 2
Acrocephalosyndactyly type I 1 0 0 0 0 1
Benign hereditary chorea; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 1 0 0 0 0 1
Hermansky-Pudlak syndrome 4 0 0 0 1 0 1
Idiopathic fibrosing alveolitis, chronic form 0 0 1 0 0 1
Kabuki syndrome 1 1 0 0 0 0 1
Myopathy, centronuclear, 1 0 0 1 0 0 1
Persistent fetal circulation 0 0 0 0 1 1
Pseudohypoparathyroidism 0 1 0 0 0 1
Pseudohypoparathyroidism type 1B 0 0 1 0 0 1
Pseudoprimary hyperaldosteronism 0 0 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 0 0 1 0 0 1
Sotos syndrome 1 1 0 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 1 0 0 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 5 0 0 1 0 0 1

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