ClinVar Miner

Variants from Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

Location: Italy  Primary collection method: research
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
115 93 25 1 6 240

Gene and significance breakdown #

Total genes and gene combinations: 101
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PNPLA6 3 9 0 0 0 12
SYNE1 7 0 1 0 2 10
PRKCG 2 7 0 0 0 9
JMJD8, STUB1 6 1 1 0 0 8
SPG7 5 1 1 0 0 7
WFS1 0 5 2 0 0 7
CACNA1G 1 5 0 0 0 6
COQ4 6 0 0 0 0 6
SETX 1 3 2 0 0 6
AFG3L2 3 2 0 0 0 5
CACNA1A 2 2 1 0 0 5
COQ8A 4 1 0 0 0 5
HARS1 4 0 1 0 0 5
SACS 0 0 5 0 0 5
ATM 3 1 0 0 0 4
ITPR1 2 2 0 0 0 4
SPTBN2 2 2 0 0 0 4
STUB1 3 1 0 0 0 4
TMEM240 3 1 0 0 0 4
ANO10 2 1 0 0 0 3
CEP290 1 0 2 0 0 3
GJC2 1 2 0 0 0 3
HPDL 3 0 0 0 0 3
KCND3 1 2 0 0 0 3
KIF1A 1 2 0 0 0 3
LYST 0 1 2 0 0 3
PLA2G6 1 2 0 0 0 3
POLG, POLGARF 3 0 0 0 0 3
POLR3A 2 1 0 0 0 3
STXBP1 2 1 0 0 0 3
AARS2, POLR1C 0 2 0 0 0 2
ABCD1 1 1 0 0 0 2
APTX 1 1 0 0 0 2
ATM, C11orf65 2 0 0 0 0 2
CCDC88C 0 2 0 0 0 2
DARS2 1 1 0 0 0 2
DNMT1 1 1 0 0 0 2
ERCC4 2 0 0 0 0 2
GALC 1 1 0 0 0 2
HSD17B4 1 1 0 0 0 2
KCNA2 2 0 0 0 0 2
LAMA1 2 0 0 0 0 2
MMACHC 1 1 0 0 0 2
OPA1 1 1 0 0 0 2
PMM2 2 0 0 0 0 2
RARS2 0 2 0 0 0 2
RNF216 0 2 0 0 0 2
SLC2A1 2 0 0 0 0 2
SYNE2 1 1 0 0 0 2
TTBK2 0 1 0 0 1 2
AHDC1 0 0 0 0 1 1
AMACR, C1QTNF3-AMACR 0 0 1 0 0 1
AMPD2 1 0 0 0 0 1
APOB 0 0 1 0 0 1
ARSA 1 0 0 0 0 1
ATP13A2 0 1 0 0 0 1
ATP1A2 1 0 0 0 0 1
ATP2B3 0 1 0 0 0 1
ATP7B 1 0 0 0 0 1
C19orf12 1 0 0 0 0 1
CACNB4 0 1 0 0 0 1
CLCN2 0 0 0 0 1 1
CLN6 0 1 0 0 0 1
CYP7B1 1 0 0 0 0 1
DAB1 0 1 0 0 0 1
DNMT1, LOC126862853 0 1 0 0 0 1
ELOVL4 0 1 0 0 0 1
EXOSC3 1 0 0 0 0 1
EXOSC8 1 0 0 0 0 1
FA2H 0 1 0 0 0 1
FAT2 0 0 0 1 0 1
GLB1 1 0 0 0 0 1
ITPR1, LOC126806590 1 0 0 0 0 1
KCNC3 1 0 0 0 0 1
KIF1C, LOC126862472 1 0 0 0 0 1
LOC130059818, SPG7 1 0 0 0 0 1
MFN2 0 1 0 0 0 1
MKS1 0 1 0 0 0 1
MME 1 0 0 0 0 1
MTPAP 0 1 0 0 0 1
NAGLU 0 0 1 0 0 1
PEX10 1 0 0 0 0 1
PIK3R5 0 0 1 0 0 1
PPT1 0 1 0 0 0 1
PRNP 1 0 0 0 0 1
PSEN1 1 0 0 0 0 1
PUM1 0 1 0 0 0 1
RNF170 0 1 0 0 0 1
SCN2A 0 1 0 0 0 1
SCN8A 0 0 1 0 0 1
SEPSECS 1 0 0 0 0 1
SLC1A3 0 0 0 0 1 1
SLC25A46 0 1 0 0 0 1
SPAST 0 0 1 0 0 1
SPG11 0 0 1 0 0 1
SPTAN1 0 1 0 0 0 1
TMEM67 0 1 0 0 0 1
TPP1 0 1 0 0 0 1
TRPC3 1 0 0 0 0 1
TTPA 1 0 0 0 0 1
TUBB3 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 61
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Spastic ataxia 33 38 17 1 4 93
Spinocerebellar ataxia 48 8 2 0 0 0 10
Spinocerebellar ataxia type 14 2 7 0 0 0 9
Ataxia-hypogonadism-choroidal dystrophy syndrome 1 7 0 0 0 8
Autosomal recessive ataxia, Beauce type 6 0 1 0 1 8
Ataxia-telangiectasia syndrome 5 1 0 0 0 6
Hereditary spastic paraplegia 7 5 1 0 0 0 6
Autosomal recessive ataxia due to ubiquinone deficiency 4 1 0 0 0 5
Episodic ataxia type 2 2 2 1 0 0 5
Spinocerebellar ataxia type 21 3 1 0 0 0 4
Spinocerebellar ataxia type 29 3 1 0 0 0 4
Spinocerebellar ataxia type 42 1 3 0 0 0 4
Autosomal recessive spinocerebellar ataxia 10 2 1 0 0 0 3
Neonatal pseudo-hydrocephalic progeroid syndrome 2 1 0 0 0 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 3 0 0 0 0 3
Spinocerebellar ataxia type 19/22 1 2 0 0 0 3
Adrenoleukodystrophy 1 1 0 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2 0 0 0 0 2
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 1 0 0 0 2
Autosomal dominant optic atrophy classic form 1 1 0 0 0 2
Autosomal recessive spinocerebellar ataxia 14 1 1 0 0 0 2
Autosomal recessive spinocerebellar ataxia 16 1 0 1 0 0 2
Cerebellar ataxia-hypogonadism syndrome 0 2 0 0 0 2
Cerebellar ataxia; Motor delay; Scoliosis; Dysarthria; Pes planus; Urinary urgency; Microcephaly; Intellectual disability; Joint laxity; Hammertoe; Distal muscle weakness 2 0 0 0 0 2
Charlevoix-Saguenay spastic ataxia 0 0 2 0 0 2
Cobalamin C disease 1 1 0 0 0 2
Developmental and epileptic encephalopathy, 32 2 0 0 0 0 2
Encephalopathy due to GLUT1 deficiency 2 0 0 0 0 2
Hereditary spastic paraplegia 30 1 1 0 0 0 2
Hypomyelinating leukodystrophy 2 1 1 0 0 0 2
Infantile neuroaxonal dystrophy 0 2 0 0 0 2
Joubert syndrome 5 0 0 2 0 0 2
Leukoencephalopathy, progressive, with ovarian failure 0 2 0 0 0 2
PMM2-congenital disorder of glycosylation 2 0 0 0 0 2
Perrault syndrome 1 1 1 0 0 0 2
Pontocerebellar hypoplasia type 6 0 2 0 0 0 2
Spastic ataxia 5 2 0 0 0 0 2
Spastic ataxia; Choreoathetosis; Nystagmus; Dysarthria; Oculomotor apraxia; Intellectual disability; Cerebellar atrophy; Dysmetria; Tremor; Peripheral neuropathy 2 0 0 0 0 2
Spinocerebellar ataxia type 5 1 1 0 0 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 0 1 0 0 2
Wolfram syndrome 1 0 2 0 0 0 2
Alzheimer disease 3 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 4 0 1 0 0 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 1 0 0 0 0 1
Autosomal dominant sensory ataxia 1 0 1 0 0 0 1
Autosomal recessive spinocerebellar ataxia 7 0 1 0 0 0 1
Cerebellar ataxia; Dysmetria; Postural instability; Drooling; Mild global developmental delay; Hypotonia 1 0 0 0 0 1
Charcot-Marie-Tooth disease type 2A2 0 1 0 0 0 1
Cognitive impairment; Dysmetria; Gait ataxia; Progressive spastic paraparesis 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 1 0 0 0 0 1
Familial isolated deficiency of vitamin E 1 0 0 0 0 1
Kufor-Rakeb syndrome 0 1 0 0 0 1
Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 0 0 0 1 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 0 1
Spastic ataxia 2 1 0 0 0 0 1
Spinocerebellar ataxia 43 1 0 0 0 0 1
Spinocerebellar ataxia type 11 0 1 0 0 0 1
Spinocerebellar ataxia type 13 1 0 0 0 0 1
Spinocerebellar ataxia type 28 1 0 0 0 0 1
Spinocerebellar ataxia type 41 1 0 0 0 0 1
Spongiform encephalopathy with neuropsychiatric features 1 0 0 0 0 1

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