ClinVar Miner

Variants from Section for Clinical Neurogenetics, University of Tübingen

Location: Germany  Primary collection method: research
Minimum submission review status: Collection method:
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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
19 55 5 0 0 79

Gene and significance breakdown #

Total genes and gene combinations: 40
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
UGDH 0 23 0 23
BCAS3 0 13 0 13
VWA1 0 6 0 6
ACO2 1 0 0 1
ADAT3, SCAMP4 1 0 0 1
ALS2 0 1 0 1
AMPD2 1 0 0 1
APTX 1 0 0 1
B4GALNT1 0 1 0 1
CAPN1 1 0 0 1
CLCN1 1 0 0 1
CNTNAP1 1 0 0 1
DNAJC6 1 0 0 1
GAMT 1 0 0 1
GPT2 1 0 0 1
KCNQ2 0 1 0 1
KIF11 0 1 0 1
LCA5 1 0 0 1
LOC130007700, PRICKLE1 0 1 0 1
LOC130056973, SPG11 1 0 0 1
MAF, WWOX 1 0 0 1
MCOLN1 0 0 1 1
MECP2 1 0 0 1
MFN2 0 0 1 1
MTMR2 0 1 0 1
NT5C2 0 1 0 1
NTRK1 0 1 0 1
PAX7 0 1 0 1
PEX1 0 1 0 1
POLR3A 1 0 0 1
PRKN 1 0 0 1
PRX 0 1 0 1
SCAPER 1 0 0 1
SEPSECS 0 0 1 1
SGCG 1 0 0 1
SGSH 1 0 0 1
SLC25A15 0 1 0 1
SYNJ1 0 0 1 1
TMCO1 0 1 0 1
TSEN54 0 0 1 1

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance total
Epileptic encephalopathy 0 23 0 23
Global developmental delay 0 13 0 13
Neuromuscular disease 0 6 0 6
Amyotrophic lateral sclerosis type 2, juvenile 0 1 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 0 0 1
Autosomal recessive spastic paraplegia type 76 1 0 0 1
Autosomal recessive spinocerebellar ataxia 12 1 0 0 1
Charcot-Marie-Tooth disease type 4B1 0 1 0 1
Charcot-Marie-Tooth disease type 4F 0 1 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 0 1 1
Congenital myotonia, autosomal recessive form 1 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 0 1 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 1
Developmental and epileptic encephalopathy, 53 0 0 1 1
Developmental and epileptic encephalopathy, 7 0 1 0 1
Epilepsy, progressive myoclonic, 1B 0 1 0 1
Glutamate pyruvate transaminase 2 deficiency 1 0 0 1
Hereditary insensitivity to pain with anhidrosis 0 1 0 1
Hereditary spastic paraplegia 11 1 0 0 1
Hereditary spastic paraplegia 26 0 1 0 1
Hereditary spastic paraplegia 45 0 1 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 1 0 1
Infantile cerebellar-retinal degeneration 1 0 0 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 1 0 0 1
Intellectual disability-strabismus syndrome 1 0 0 1
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 1 0 0 1
Leber congenital amaurosis 5 1 0 0 1
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 1
Mucolipidosis type IV 0 0 1 1
Mucopolysaccharidosis, MPS-III-A 1 0 0 1
Myopathy, congenital, progressive, with scoliosis 0 1 0 1
Neuropathy, congenital hypomyelinating, 3 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 1 0 1
Pontocerebellar hypoplasia type 2D 0 0 1 1
Pontocerebellar hypoplasia type 9 1 0 0 1
Pontoneocerebellar hypoplasia 0 0 1 1
Rett syndrome 1 0 0 1

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