ClinVar Miner

Variants from SBielas Lab, Department of Human Genetics,University of Michigan

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
24 2 1 1 0 28

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
CHD7 15 0 0 0 15
CIT 4 0 0 0 4
THOC6 0 2 0 0 2
EP300 1 0 0 0 1
FLNA 0 0 0 1 1
KDM6A 0 0 1 0 1
KMT2D 1 0 0 0 1
NDUFV1 1 0 0 0 1
PUF60 1 0 0 0 1
RERE 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign total
CHARGE association 15 0 0 0 15
Primary autosomal recessive microcephaly 4 0 0 0 4
Beaulieu-Boycott-Innes syndrome 0 2 0 0 2
Kabuki syndrome 1 1 0 0 0 1
Kabuki syndrome 2 0 0 1 0 1
Mitochondrial complex I deficiency 1 0 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 1 0 0 0 1
Oto-palato-digital syndrome, type I 0 0 0 1 1
Rubinstein-Taybi syndrome 1 1 0 0 0 1
Verheij syndrome 1 0 0 0 1

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