ClinVar Miner

Variants from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

Location: China  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
116 30 32 0 0 178

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SMAD6 43 7 20 70
NF1 43 1 1 45
SLC3A1 7 4 0 11
SLC7A9 4 2 2 8
MECOM 2 3 2 7
ACAT1 2 2 0 4
COG4 1 1 0 2
CPS1 1 1 0 2
DNAH11 0 0 2 2
MARS1 0 2 0 2
NBAS 1 1 0 2
POC1A 2 0 0 2
PREPL, SLC3A1 2 0 0 2
AGL 1 0 0 1
AQP5 0 1 0 1
ARX 1 0 0 1
CBX2 0 0 1 1
CRYGC, LOC100507443 1 0 0 1
ECE1 0 1 0 1
IDH1 0 1 0 1
INVS 1 0 0 1
MVP-DT, PRRT2 0 1 0 1
MYH6 0 0 1 1
MYO5B 0 1 0 1
NOTCH2 1 0 0 1
PARN 0 0 1 1
PHOX2B 0 0 1 1
PLCG2 0 0 1 1
TBCK 0 1 0 1
TOR1A 1 0 0 1
VWF 1 0 0 1
ZEB2 1 0 0 1

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance total
Radioulnar synostosis 38 10 20 68
Neurofibromatosis, type 1; Tibial pseudarthrosis 37 1 1 39
Cystine urolithiasis 13 6 2 21
Deficiency of acetyl-CoA acetyltransferase 2 2 0 4
Cafe au lait spots, multiple; Tibial pseudarthrosis 3 0 0 3
Tibial pseudarthrosis 3 0 0 3
COG4-congenital disorder of glycosylation 1 1 0 2
Congenital hyperammonemia, type I 1 1 0 2
Infantile liver failure syndrome 2 1 1 0 2
Polydactyly; Radioulnar synostosis 2 0 0 2
Primary ciliary dyskinesia 7 0 0 2 2
Radioulnar synostosis; Abnormal axial skeleton morphology 2 0 0 2
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 0 2 0 2
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 2 0 0 2
Alagille syndrome due to a NOTCH2 point mutation 1 0 0 1
Atrial septal defect 3 0 0 1 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 1
Cataract 2, multiple types 1 0 0 1
Congenital central hypoventilation 0 0 1 1
Congenital microvillous atrophy 0 1 0 1
Corpus callosum agenesis-abnormal genitalia syndrome 1 0 0 1
Disorder of sexual differentiation 0 0 1 1
Early-onset generalized limb-onset dystonia 1 0 0 1
Glycogen storage disease type III 1 0 0 1
Hirschsprung disease, cardiac defects, and autonomic dysfunction 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 0 1
Infantile nephronophthisis 1 0 0 1
Mowat-Wilson syndrome 1 0 0 1
Palmoplantar keratoderma, Bothnian type 0 1 0 1
Paroxysmal extreme pain disorder 0 1 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 0 1 1
Radioulnar synostosis; Heart, malformation of 1 0 0 1
Radioulnar synostosis; Heart, malformation of; Bicuspid aortic valve 0 0 1 1
Radioulnar synostosis; Heart, malformation of; Frontal bossing; Premature closure of fontanelles 1 0 0 1
Radioulnar synostosis; Plagiocephaly 1 0 0 1
Radioulnar synostosis; Plagiocephaly; Frontal bossing; Premature closure of fontanelles 0 0 1 1
Seizures, benign familial infantile, 2 0 1 0 1
von Willebrand disease type 3 1 0 0 1

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