ClinVar Miner

Variants from Department of Medical Genetics, National Institute of Health

Location: Morocco  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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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
20 10 1 0 0 31

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ANKRD11 2 0 1 3
LAMA2 2 1 0 3
NSD1 3 0 0 3
LMNA 2 0 0 2
SGCA 0 2 0 2
ARG1, MED23 0 1 0 1
BRCA1 1 0 0 1
CLDN16 0 1 0 1
CNNM4 1 0 0 1
COL4A3, MFF-DT 0 1 0 1
COLQ 1 0 0 1
EMD 1 0 0 1
FKRP 0 1 0 1
GALC 1 0 0 1
KMT2D 1 0 0 1
LOC126807619, NSD1 1 0 0 1
METTL23 1 0 0 1
NIPBL 0 1 0 1
SCN1A 1 0 0 1
SGCB 0 1 0 1
SPTB 1 0 0 1
TGFBI 0 1 0 1
TTN 1 0 0 1

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance total
Sotos syndrome 4 0 0 4
KBG syndrome 2 0 1 3
Merosin deficient congenital muscular dystrophy 2 1 0 3
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 2 0 2
Arginase deficiency 0 1 0 1
Autosomal dominant Alport syndrome 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 1
Congenital muscular dystrophy due to LMNA mutation 1 0 0 1
Congenital myasthenic syndrome 5 1 0 0 1
Cornelia de Lange syndrome 1 0 1 0 1
Early-onset myopathy with fatal cardiomyopathy 1 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 1 0 0 1
Hereditary spherocytosis type 2 1 0 0 1
Intellectual disability, autosomal recessive 44 1 0 0 1
Jalili syndrome 1 0 0 1
Kabuki syndrome 1 1 0 0 1
Primary hypomagnesemia 0 1 0 1
Severe myoclonic epilepsy in infancy 1 0 0 1
Thiel-Behnke corneal dystrophy 0 1 0 1
X-linked Emery-Dreifuss muscular dystrophy 1 0 0 1

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