ClinVar Miner

Variants from Laboratory of Inherited Metabolic Diseases, 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
167 137 80 2 0 386

Gene and significance breakdown #

Total genes and gene combinations: 116
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COL2A1 20 8 1 0 29
IDS 25 0 0 0 25
IDS, LOC106050102 19 0 0 0 19
CDKL5 11 2 3 0 16
LDLR 8 3 3 0 14
COMP 6 7 0 0 13
SURF1 3 10 0 0 13
PCCA 8 2 1 0 11
POLG, POLGARF 4 6 0 0 10
SCN2A 2 3 4 0 9
TWNK 2 7 0 0 9
HGD 1 7 0 0 8
LOC102724058, SCN1A 2 4 2 0 8
PCDH19 7 0 1 0 8
SLC26A2 2 3 2 0 7
PC 0 6 0 0 6
NPR2 2 2 1 0 5
PCCB 1 2 2 0 5
SCN8A 1 1 3 0 5
ARSB 0 2 0 2 4
CUL7 1 2 1 0 4
DYNC2H1 2 2 0 0 4
FLNB 0 3 1 0 4
NCAPH2, SCO2 1 0 3 0 4
PAPSS2 2 1 1 0 4
SCN1A 4 0 0 0 4
STXBP1 1 2 1 0 4
TK2 0 4 0 0 4
COL10A1, NT5DC1 3 0 0 0 3
COL9A3 3 0 0 0 3
GALNS 0 3 0 0 3
NARS2 1 2 0 0 3
NOTCH3 3 0 0 0 3
SGCA 1 0 2 0 3
TONSL 0 1 2 0 3
ADAMTSL2 0 0 2 0 2
APOB 0 0 2 0 2
ARSL 1 1 0 0 2
CDH23 0 2 0 0 2
CFAP410 2 0 0 0 2
CNPY3, CNPY3-GNMT 0 1 1 0 2
COX10 0 0 2 0 2
DYSF 0 2 0 0 2
EVC2 1 1 0 0 2
FBN1 1 1 0 0 2
FLNA 1 1 0 0 2
GFM2 0 0 2 0 2
HSPG2, LDLRAD2 0 0 2 0 2
IARS2 0 1 1 0 2
IHH 0 0 2 0 2
KCNB1 0 1 1 0 2
KCNQ2 1 1 0 0 2
LOC125467768, PCDH19 2 0 0 0 2
LOC130002899, SURF1 0 2 0 0 2
NDUFA10 0 1 1 0 2
NDUFAF6 0 0 2 0 2
NDUFS2 0 0 2 0 2
NDUFS8 0 1 1 0 2
PDHA1 0 1 1 0 2
PDHB 0 1 1 0 2
RMRP 0 0 2 0 2
SCARB1 1 0 1 0 2
TRPV4 0 2 0 0 2
VPS13D 0 1 1 0 2
ALG13 0 1 0 0 1
APOA1 0 1 0 0 1
APOA5 1 0 0 0 1
APOE 0 1 0 0 1
ARHGEF9 0 1 0 0 1
ARX 0 0 1 0 1
BGN 0 1 0 0 1
BMPR1B 0 0 1 0 1
CACNA1A 0 1 0 0 1
CAPN3 0 0 1 0 1
CCN6 1 0 0 0 1
CDKL5, RS1 0 0 1 0 1
COX10, LOC105943586 0 0 1 0 1
CTSK 0 1 0 0 1
DARS2 1 0 0 0 1
DYNC2I2, LOC126860772 0 0 1 0 1
EVC 1 0 0 0 1
EVC2, LOC126806961 0 0 1 0 1
FBXL4 1 0 0 0 1
FN1 1 0 0 0 1
GAA 0 1 0 0 1
GABRA1 0 0 1 0 1
GABRB3 0 1 0 0 1
GAREM2, HADHA 1 0 0 0 1
GLB1 0 1 0 0 1
GNAO1 0 1 0 0 1
HSPG2 0 1 0 0 1
IFT140, LOC105371046 0 0 1 0 1
INPPL1 0 0 1 0 1
INPPL1, LOC130006328 0 1 0 0 1
KCNT1 0 1 0 0 1
LIPA 0 1 0 0 1
LIPC 0 0 1 0 1
LMF1 1 0 0 0 1
LOC114803470, SCN8A 0 0 1 0 1
LOC126861318, MMP13 0 1 0 0 1
LOC130067862, SCO2, TYMP 0 1 0 0 1
MATN3 0 1 0 0 1
MIR6893, TONSL 0 1 0 0 1
NDUFAF5 0 0 1 0 1
NDUFV1 1 0 0 0 1
NPC1 0 1 0 0 1
PEX1 0 1 0 0 1
PHKA1 0 0 1 0 1
PLIN1 1 0 0 0 1
PMPCB 0 0 1 0 1
PPARG 0 1 0 0 1
SGCG 0 0 1 0 1
SLC19A3 0 0 1 0 1
SMARCAL1 1 0 0 0 1
SUCLG1 0 0 1 0 1
WDR35 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 113
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Mucopolysaccharidosis, MPS-II 44 0 0 0 44
Developmental and epileptic encephalopathy, 2 11 2 4 0 17
Propionic acidemia 9 4 3 0 16
Spondyloepiphyseal dysplasia congenita 12 3 1 0 16
Mitochondrial complex IV deficiency, nuclear type 1 3 12 0 0 15
Hypercholesterolemia, familial, 1 8 3 3 0 14
Severe myoclonic epilepsy in infancy 6 4 2 0 12
Developmental and epileptic encephalopathy, 9 9 0 1 0 10
Developmental and epileptic encephalopathy, 11 2 3 4 0 9
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 5 4 0 0 9
Alkaptonuria 1 7 0 0 8
Developmental and epileptic encephalopathy, 13 1 1 4 0 6
Kniest dysplasia 3 3 0 0 6
Pyruvate carboxylase deficiency 0 6 0 0 6
Acromesomelic dysplasia 1, Maroteaux type 2 2 1 0 5
Diastrophic dysplasia 2 2 1 0 5
Progressive sclerosing poliodystrophy 2 3 0 0 5
3M syndrome 1 1 2 1 0 4
Asphyxiating thoracic dystrophy 3 2 2 0 0 4
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 1 0 3 0 4
Developmental and epileptic encephalopathy, 4 1 2 1 0 4
Ellis-van Creveld syndrome 2 1 1 0 4
Infantile onset spinocerebellar ataxia 1 3 0 0 4
Larsen syndrome 0 3 1 0 4
Leigh syndrome 0 2 2 0 4
Mitochondrial DNA depletion syndrome, myopathic form 0 4 0 0 4
Mucopolysaccharidosis type 6 0 2 0 2 4
Multiple epiphyseal dysplasia type 1 1 3 0 0 4
Sponastrime dysplasia 0 2 2 0 4
Spondyloepimetaphyseal dysplasia, PAPSS2 type 2 1 1 0 4
mitochondrial hepatopathy 1 3 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 0 2 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 3 0 0 0 3
Combined oxidative phosphorylation defect type 24 1 2 0 0 3
High density lipoprotein cholesterol level quantitative trait locus 6 1 0 2 0 3
Metaphyseal chondrodysplasia, Schmid type 3 0 0 0 3
Mitochondrial complex 4 deficiency, nuclear type 3 0 0 3 0 3
Mucopolysaccharidosis, MPS-IV-A 0 3 0 0 3
Schwartz-Jampel syndrome type 1 0 1 2 0 3
Stickler syndrome type 1 2 1 0 0 3
Acrocapitofemoral dysplasia 0 0 2 0 2
Acromicric dysplasia 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 12 0 2 0 0 2
Axial spondylometaphyseal dysplasia 2 0 0 0 2
Combined oxidative phosphorylation deficiency 39 0 0 2 0 2
Developmental and epileptic encephalopathy, 26 0 1 1 0 2
Developmental and epileptic encephalopathy, 60 0 1 1 0 2
Developmental and epileptic encephalopathy, 7 1 1 0 0 2
Geleophysic dysplasia 1 0 0 2 0 2
Hypercholesterolemia, autosomal dominant, type B 0 0 2 0 2
Metaphyseal chondrodysplasia, McKusick type 0 0 2 0 2
Metatropic dysplasia 0 2 0 0 2
Mitochondrial complex 1 deficiency, nuclear type 17 0 0 2 0 2
Mitochondrial complex 1 deficiency, nuclear type 2 0 1 1 0 2
Mitochondrial complex 1 deficiency, nuclear type 22 0 1 1 0 2
Mitochondrial complex 1 deficiency, nuclear type 6 0 0 2 0 2
Multiple epiphyseal dysplasia type 4 0 1 1 0 2
Opsismodysplasia 0 1 1 0 2
Oto-palato-digital syndrome, type II 1 1 0 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 1 1 0 0 2
Pyruvate dehydrogenase E1-alpha deficiency 0 1 1 0 2
Pyruvate dehydrogenase E1-beta deficiency 0 1 1 0 2
Qualitative or quantitative defects of dysferlin 0 2 0 0 2
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 1 0 0 2
Spondyloepimetaphyseal dysplasia, Strudwick type 2 0 0 0 2
Spondyloperipheral dysplasia 1 1 0 0 2
Stickler syndrome 2 0 0 0 2
X-linked chondrodysplasia punctata 1 1 1 0 0 2
Acromesomelic dysplasia 3 0 0 1 0 1
Alpers-like hepatocerebral syndrome 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 0 1 0 1
Biotin-responsive basal ganglia disease 0 0 1 0 1
Cranioectodermal dysplasia 2 0 0 1 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 1
Developmental and epileptic encephalopathy, 14 0 1 0 0 1
Developmental and epileptic encephalopathy, 17 0 1 0 0 1
Developmental and epileptic encephalopathy, 19 0 0 1 0 1
Developmental and epileptic encephalopathy, 36 0 1 0 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 1
Developmental and epileptic encephalopathy, 8 0 1 0 0 1
Epiphyseal dysplasia, multiple, 3 1 0 0 0 1
Familial type 3 hyperlipoproteinemia 0 1 0 0 1
Familial type 5 hyperlipoproteinemia 1 0 0 0 1
Glycogen storage disease IXd 0 0 1 0 1
Glycogen storage disease, type II 0 1 0 0 1
Hypoalphalipoproteinemia, primary, 2 0 1 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 0 0 0 1
Lipase deficiency, combined 1 0 0 0 1
Lysosomal acid lipase deficiency 0 1 0 0 1
Mitochondrial DNA depletion syndrome 1 0 1 0 0 1
Mitochondrial DNA depletion syndrome 13 1 0 0 0 1
Mitochondrial DNA depletion syndrome 9 0 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 16 0 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 4 1 0 0 0 1
Mitochondrial trifunctional protein deficiency 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-B 0 1 0 0 1
Multiple epiphyseal dysplasia type 5 0 1 0 0 1
Multiple mitochondrial dysfunctions syndrome 6 0 0 1 0 1
Niemann-Pick disease, type C1 0 1 0 0 1
PLIN1-related familial partial lipodystrophy 1 0 0 0 1
PPARG-related familial partial lipodystrophy 0 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 1 0 0 1
Perrault syndrome 5 0 1 0 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 1
Pyknodysostosis 0 1 0 0 1
Saldino-Mainzer syndrome 0 0 1 0 1
Schimke immuno-osseous dysplasia 1 0 0 0 1
Short-rib thoracic dysplasia 11 with or without polydactyly 0 0 1 0 1
Spondyloepimetaphyseal dysplasia, Missouri type 0 1 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 1 0 0 0 1
X-linked spondyloepimetaphyseal dysplasia 0 1 0 0 1

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