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 |
22
|
17
|
20
|
0 |
0 |
59
|
Gene and significance breakdown #
Total genes and gene combinations: 43
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
total |
See cases
|
1
|
5
|
2
|
8
|
Visceral myopathy 1
|
4
|
0 |
1
|
5
|
Peroxisome biogenesis disorder 1A (Zellweger)
|
0 |
3
|
0 |
3
|
Autosomal recessive nonsyndromic hearing loss 12
|
1
|
0 |
1
|
2
|
Autosomal recessive nonsyndromic hearing loss 22
|
0 |
1
|
1
|
2
|
Kabuki syndrome 1
|
2
|
0 |
0 |
2
|
MRTFB-Related Disorders
|
2
|
0 |
0 |
2
|
Peroxisome biogenesis disorder 4A (Zellweger)
|
0 |
2
|
0 |
2
|
"See Cases"
|
0 |
1
|
0 |
1
|
Aicardi-Goutieres syndrome 6
|
1
|
0 |
0 |
1
|
Alternating hemiplegia of childhood 2
|
1
|
0 |
0 |
1
|
Autosomal dominant nonsyndromic hearing loss 15
|
0 |
0 |
1
|
1
|
Autosomal recessive nonsyndromic hearing loss 18B
|
0 |
0 |
1
|
1
|
Autosomal recessive nonsyndromic hearing loss 1A
|
1
|
0 |
0 |
1
|
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
0 |
0 |
1
|
1
|
Char syndrome
|
0 |
0 |
1
|
1
|
Developmental delay with variable intellectual impairment and behavioral abnormalities
|
0 |
0 |
1
|
1
|
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
|
1
|
0 |
0 |
1
|
Epilepsy, familial focal, with variable foci 1
|
0 |
1
|
0 |
1
|
Familial hypocalciuric hypercalcemia 1
|
1
|
0 |
0 |
1
|
Hartsfield-Bixler-Demyer syndrome
|
1
|
0 |
0 |
1
|
Heyn-Sproul-Jackson syndrome
|
0 |
1
|
0 |
1
|
Holoprosencephaly 5
|
0 |
1
|
0 |
1
|
Hypopigmentation, organomegaly, and delayed myelination and development
|
0 |
0 |
1
|
1
|
Ichthyosis vulgaris
|
1
|
0 |
0 |
1
|
Intellectual developmental disorder with autism and macrocephaly
|
0 |
0 |
1
|
1
|
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
|
0 |
1
|
0 |
1
|
Intellectual developmental disorder, autosomal dominant 66
|
0 |
0 |
1
|
1
|
Intellectual disability, autosomal dominant 42
|
1
|
0 |
0 |
1
|
Intellectual disability, autosomal recessive 13
|
0 |
0 |
1
|
1
|
Intellectual disability, autosomal recessive 44
|
0 |
0 |
1
|
1
|
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
|
1
|
0 |
0 |
1
|
Landau-Kleffner syndrome
|
0 |
0 |
1
|
1
|
Marfan syndrome
|
0 |
0 |
1
|
1
|
Platelet-type bleeding disorder 16
|
1
|
0 |
0 |
1
|
Primary dilated cardiomyopathy
|
0 |
0 |
1
|
1
|
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
|
0 |
1
|
0 |
1
|
Schuurs-Hoeijmakers syndrome
|
1
|
0 |
0 |
1
|
Spinocerebellar ataxia 45
|
0 |
0 |
1
|
1
|
Syndromic X-linked intellectual disability Claes-Jensen type
|
0 |
0 |
1
|
1
|
Xeroderma pigmentosum, group F
|
1
|
0 |
0 |
1
|
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