ClinVar Miner

Variants from Laboratory of Functional Genomics, Research Centre for Medical Genetics

Location: Russian Federation  Primary collection method: clinical testing
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
14 15 6 4 0 39

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COL2A1 2 4 4 0 10
DEPDC5 2 2 0 0 4
ASCC1 2 0 0 0 2
ARSL 1 0 0 0 1
CHD2, LOC130057985 0 0 0 1 1
DDX3X 0 1 0 0 1
DMD 0 1 0 0 1
EIF2S3 0 1 0 0 1
GDAP1 0 0 0 1 1
HNRNPU 1 0 0 0 1
LOC108167315, POMC 1 0 0 0 1
MICU1 1 0 0 0 1
MPZ 0 0 0 1 1
NIPBL 0 0 0 1 1
PALB2 1 0 0 0 1
PPOX 1 0 0 0 1
QDPR 0 1 0 0 1
SCN9A 1 0 0 0 1
SH3TC2 0 1 0 0 1
SHANK3 0 0 1 0 1
SLC34A1 0 1 0 0 1
SLC34A3 0 1 0 0 1
SLC37A4 0 1 0 0 1
TTN 0 1 0 0 1
TWIST1 1 0 0 0 1
ZNF335 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Stickler syndrome type 1 1 3 2 0 6
Epilepsy, familial focal, with variable foci 1 2 2 0 0 4
Achondrogenesis type II 1 1 1 0 3
Charcot-Marie-Tooth disease type 1B 0 1 0 1 2
Developmental and epileptic encephalopathy, 54 1 0 0 1 2
Spinal muscular atrophy with congenital bone fractures 2 2 0 0 0 2
Autosomal recessive hypophosphatemic bone disease 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 1 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 0 1 1
Dihydropteridine reductase deficiency 0 1 0 0 1
Duchenne muscular dystrophy 0 1 0 0 1
Early infantile epileptic encephalopathy with suppression bursts 0 0 0 1 1
Fanconi anemia complementation group N 1 0 0 0 1
Glucose-6-phosphate transport defect 0 1 0 0 1
Hypercalcemia, infantile, 2 0 1 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
MEHMO syndrome 0 1 0 0 1
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 1 0 1
Obesity due to pro-opiomelanocortin deficiency 1 0 0 0 1
Phelan-McDermid syndrome 0 0 1 0 1
Proximal myopathy with extrapyramidal signs 1 0 0 0 1
Spondyloepiphyseal dysplasia congenita 0 0 1 0 1
TWIST1-related craniosynostosis; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome 1 0 0 0 1
Variegate porphyria 1 0 0 0 1
X-linked chondrodysplasia punctata 1 1 0 0 0 1

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