ClinVar Miner

Variants from Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

Location: Spain  Primary collection method: research
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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
71 26 9 0 0 106

Gene and significance breakdown #

Total genes and gene combinations: 67
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SPG11 7 1 0 8
POLR3A 3 3 0 6
SPG7 3 2 0 5
PI4KA 4 0 0 4
SPAST 3 1 0 4
ATL1 3 0 0 3
KIF1A 2 1 0 3
RINT1 3 0 0 3
AP4B1 1 1 0 2
CACNA1A 1 0 1 2
CC2D2A 1 1 0 2
IFIH1 0 0 2 2
LONP1 1 1 0 2
PMM2 2 0 0 2
PNKP 1 1 0 2
PNPLA6 1 1 0 2
POLG, POLGARF 1 0 1 2
REEP1 1 1 0 2
TRMT5 1 1 0 2
ACER3 1 0 0 1
AFG3L2 1 0 0 1
ALS2 0 1 0 1
AMPD2 1 0 0 1
BCKDK 0 1 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 0 1
CAPN1 1 0 0 1
CAPN10 1 0 0 1
COL6A3 0 1 0 1
CTNNB1 1 0 0 1
CYP2U1 0 1 0 1
DDHD2 1 0 0 1
DLG4 1 0 0 1
DSTYK 1 0 0 1
ERBB4 0 0 1 1
FA2H 0 1 0 1
FARS2 1 0 0 1
FARS2, LYRM4 1 0 0 1
GFAP 1 0 0 1
IQSEC2 0 0 1 1
IRF2BPL 1 0 0 1
KCNA1 1 0 0 1
KIDINS220 0 1 0 1
KIF5A 1 0 0 1
KMT2B 0 1 0 1
L2HGDH 0 0 1 1
LAMA1 1 0 0 1
LAMA1, LOC112543434 1 0 0 1
LOC126860971, POLR3A 0 1 0 1
LOC129992330, SEPSECS 1 0 0 1
MMUT 1 0 0 1
MORC2 1 0 0 1
NDUFS6 1 0 0 1
PAX6 1 0 0 1
PCYT2 0 1 0 1
PDK3 1 0 0 1
POLR1C, SLC35B2 1 0 0 1
POLR3B 0 0 1 1
RNASEH2B 1 0 0 1
SARS1 1 0 0 1
SHMT2 0 1 0 1
SLC25A46 1 0 0 1
SPTAN1 1 0 0 1
SPTBN2 1 0 0 1
SVBP 0 1 0 1
TAF1 0 0 1 1
TMEM240 1 0 0 1
UBAP1 1 0 0 1

Condition and significance breakdown #

Total conditions: 64
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Condition pathogenic likely pathogenic uncertain significance total
Hereditary spastic paraplegia 11 7 1 0 8
POLR3A-related disorders 3 4 0 7
Hereditary spastic paraplegia 7 3 2 0 5
Hereditary spastic paraplegia 4 3 1 0 4
Spastic paraplegia 84, autosomal recessive 4 0 0 4
Hereditary spastic paraplegia 30 2 1 0 3
Hereditary spastic paraplegia 3A 3 0 0 3
RINT1-related disorder 3 0 0 3
Aicardi-Goutieres syndrome 7 0 0 2 2
Ataxia - oculomotor apraxia type 4 1 1 0 2
Combined oxidative phosphorylation defect type 14 2 0 0 2
Combined oxidative phosphorylation defect type 26 1 1 0 2
Hereditary spastic paraplegia 31 1 1 0 2
Hereditary spastic paraplegia 39 1 1 0 2
Hereditary spastic paraplegia 47 1 1 0 2
Joubert syndrome 9 1 1 0 2
LAMA1-related disorders 2 0 0 2
LONP1-related disorders 1 1 0 2
PMM2-congenital disorder of glycosylation 2 0 0 2
POLG-related disorder 1 0 1 2
Spinocerebellar ataxia type 6 1 0 1 2
Aicardi-Goutieres syndrome 2 1 0 0 1
Alkaline ceramidase 3 deficiency 1 0 0 1
Amyotrophic lateral sclerosis type 19 0 0 1 1
Autosomal recessive spastic paraplegia type 76 1 0 0 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 1 0 1
CAPN10-related disorders 1 0 0 1
COL6A3-related disorders 0 1 0 1
Charcot-Marie-Tooth disease X-linked dominant 6 1 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 0 0 1
Dystonia 28, childhood-onset 0 1 0 1
Episodic ataxia type 1 1 0 0 1
GFAP-related disorders 1 0 0 1
Hereditary spastic paraplegia 10 1 0 0 1
Hereditary spastic paraplegia 17 1 0 0 1
Hereditary spastic paraplegia 23 1 0 0 1
Hereditary spastic paraplegia 35 0 1 0 1
Hereditary spastic paraplegia 54 1 0 0 1
Hereditary spastic paraplegia 56 0 1 0 1
Hereditary spastic paraplegia 63 1 0 0 1
Infantile-onset ascending hereditary spastic paralysis 0 1 0 1
Intellectual developmental disorder 62 1 0 0 1
Intellectual disability, X-linked 1 0 0 1 1
Intellectual disability, X-linked, syndromic 33 0 0 1 1
KCNA1-related disorders 0 1 0 1
L-2-hydroxyglutaric aciduria 0 0 1 1
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia 1 0 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 9 1 0 0 1
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 0 1 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 1 0 0 1
PAX6-related disorders 1 0 0 1
POLR3B-related disorders 0 0 1 1
Pontocerebellar hypoplasia type 2D 1 0 0 1
SARS1-related disorders 1 0 0 1
SPTAN1-related disorders 1 0 0 1
SVBP-related disorders 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Spastic ataxia 5 1 0 0 1
Spastic paraplegia 80, autosomal dominant 1 0 0 1
Spastic paraplegia 82, autosomal recessive 0 1 0 1
Spinocerebellar ataxia type 21 1 0 0 1
Spinocerebellar ataxia type 5 1 0 0 1

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