ClinVar Miner

Variants from Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health

Location: United States  Primary collection method: not provided
Minimum submission review status: Collection method:
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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
19 13 0 0 0 32

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic total
ATG4D 3 1 4
CCDC47 0 4 4
WDR37 0 4 4
MED23 2 0 2
NAGLU 2 0 2
PIGT 2 0 2
SLC12A2 1 1 2
ADGRB2 0 1 1
ATP13A2 1 0 1
ATXN7L3, UBTF 0 1 1
DARS1 1 0 1
ERCC6 1 0 1
GRIN2B 1 0 1
MIR103A2, MIR103B2, PANK2 1 0 1
MOGS 0 1 1
PANK2 1 0 1
RAI1 1 0 1
SMS 1 0 1
STIM1 1 0 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic total
Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay 0 4 4
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair 0 4 4
ASHER 2 1 3
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 2 0 2
Intellectual disability, autosomal recessive 18 2 0 2
Mucopolysaccharidosis, MPS-III-B 2 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3 2 0 2
Cockayne syndrome type 2 1 0 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 1 0 1
Infant onset multiple organ failure 0 1 1
Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability 0 1 1
Intellectual disability, autosomal dominant 6 1 0 1
Kilquist syndrome 1 0 1
Kufor-Rakeb syndrome 1 0 1
MOGS-congenital disorder of glycosylation 0 1 1
Progressive spastic paraparesis 0 1 1
See cases 1 0 1
Smith-Magenis syndrome 1 0 1
Syndromic X-linked intellectual disability Snyder type 1 0 1
not provided 1 0 1

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