ClinVar Miner

Variants from Institute for Genomic Medicine, Nationwide Children's Hospital

Location: United States  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
13 13 4 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ATP7B 1 2 0 3
B4GALT7 1 0 1 2
HOXD13 2 0 0 2
MYO18B 0 2 0 2
PTEN 2 0 0 2
SEPSECS 1 1 0 2
ASXL3 1 0 0 1
BAP1 1 0 0 1
BICD2 0 1 0 1
BRAF 1 0 0 1
CDX2 0 1 0 1
FLNB 0 1 0 1
GRIA2 0 1 0 1
HTRA2 0 0 1 1
HTRA2, LOXL3 0 0 1 1
IKZF1 0 1 0 1
LOC126859827, TAB2 1 0 0 1
OCA2 0 1 0 1
PLS1 0 0 1 1
RLIM 0 1 0 1
SLC35A2 1 0 0 1
SMS 1 0 0 1
TAOK1 0 1 0 1

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance total
Wilson disease 1 2 0 3
Hemimegalencephaly 2 0 0 2
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 2 0 2
Leigh syndrome 0 0 2 2
Lethal skeletal dysplasia 1 0 1 2
Pontocerebellar hypoplasia type 2D 1 1 0 2
Synpolydactyly type 1 2 0 0 2
Anorectal malformation 0 1 0 1
BAP1-related tumor predisposition syndrome 1 0 0 1
Childhood ganglioglioma 1 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 0 1
Hearing impairment 0 0 1 1
Intellectual disability, X-linked 61 0 1 0 1
Neurodevelopmental disorder with language impairment and behavioral abnormalities 0 1 0 1
Pancytopenia due to IKZF1 mutations 0 1 0 1
Patellar hypoplasia; Knee dislocation; Limited knee flexion/extension 0 1 0 1
Primary dilated cardiomyopathy 1 0 0 1
SLC35A2-congenital disorder of glycosylation 1 0 0 1
Seizure; Feeding difficulties; Muscle weakness; EEG abnormality; Tapered finger; Absent speech; Open mouth; Macrocephaly; Decreased fetal movement; Cerebral cortical atrophy; Downturned corners of mouth; Recurrent fractures; Arthrogryposis multiplex congenita; Muscular atrophy 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Syndromic X-linked intellectual disability Snyder type 1 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 1 0 1

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