ClinVar Miner

Variants from Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital

Location: Italy  Primary collection method: research
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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 risk factor total
81 22 5 0 0 1 109

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
SPEN 30 0 0 0 30
POLR3A 0 14 0 0 14
H1-4 8 0 0 0 8
MAPK1 7 0 0 0 7
ARF3 5 1 0 0 6
SCUBE3 6 0 0 0 6
UBE2A 0 2 4 0 6
CDC42 4 0 0 0 4
KIF5B 3 0 0 0 3
LOC130005368, RRAS2 3 0 0 0 3
SHOC2 0 3 0 0 3
VPS4A 3 0 0 0 3
KCNK4, KCNK4-CATSPERZ 2 0 0 0 2
RAC1 2 0 0 0 2
RRAS2 2 0 0 0 2
SPRED2 2 0 0 0 2
CHD7 0 0 1 0 1
CLCN6 1 0 0 0 1
FOXP1, LOC126806714 0 1 0 0 1
HRAS, LRRC56 1 0 0 0 1
LOC123620094, SCUBE3 1 0 0 0 1
LOC126859661, SCUBE3 1 0 0 0 1
LOC126860970, POLR3A 0 1 0 0 1
PTPN11 0 0 0 1 1

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance risk factor total
not provided 36 0 0 0 36
Neonatal pseudo-hydrocephalic progeroid syndrome 0 15 0 0 15
Rahman syndrome 8 0 0 0 8
Short stature; Abnormality of the skeletal system; Abnormal facial shape; Abnormality of the dentition 8 0 0 0 8
Noonan syndrome 7 0 0 0 7
Syndromic X-linked intellectual disability Nascimento type 0 2 4 0 6
Noonan syndrome-like disorder with loose anagen hair 1 0 3 0 0 3
Short stature; Atypical behavior; Abnormal facial shape; Specific learning disability; Microcephaly; Intellectual disability 3 0 0 0 3
Dystonic disorder; Scoliosis; Microcephaly; Intellectual disability; Atrophy/Degeneration affecting the central nervous system 1 1 0 0 2
Heart, malformation of; Atypical behavior; Abnormal facial shape; Specific learning disability; Intellectual disability 2 0 0 0 2
Intellectual disability, autosomal dominant 48 2 0 0 0 2
See cases 0 1 1 0 2
Seizure; Abnormal facial shape; Gingival overgrowth; Intellectual disability; Generalized hypertrichosis 2 0 0 0 2
Costello syndrome 1 0 0 0 1
Feeding difficulties; Intellectual disability; Severe muscular hypotonia; Fatigable weakness of swallowing muscles 1 0 0 0 1
Global developmental delay; Motor delay; Feeding difficulties; EEG abnormality; Neurogenic bladder; Abnormality of vision; Abnormality of the skin; Abnormality of the respiratory system; Abnormality of speech or vocalization; Abnormality of temperature regulation; Hypotonia; Movement disorder 1 0 0 0 1
Global developmental delay; Seizure; Respiratory distress; Abnormal facial shape; Intellectual disability; Severe muscular hypotonia 1 0 0 0 1
Heart, malformation of; Atypical behavior; Abnormal facial shape; Specific learning disability; Macrocephaly 1 0 0 0 1
Heart, malformation of; Seizure; Scoliosis; Microcephaly; Intellectual disability; Atrophy/Degeneration affecting the central nervous system; Hypotonia 1 0 0 0 1
Heart, malformation of; Short stature; Atypical behavior; Abnormal facial shape; Specific learning disability; Intellectual disability 1 0 0 0 1
Intellectual disability; Kyphosis; Atrophy/Degeneration affecting the central nervous system 1 0 0 0 1
Noonan-like syndrome 1 0 0 0 1
Pectus excavatum; Microcephaly; Intellectual disability; Atrophy/Degeneration affecting the central nervous system; Hypotonia 1 0 0 0 1
Primary dilated cardiomyopathy; Ophthalmoplegia; Multiple joint contractures; Skeletal myopathy 1 0 0 0 1
Seizure; Intellectual disability; Atrophy/Degeneration affecting the central nervous system 1 0 0 0 1
Werner syndrome 0 0 0 1 1

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