ClinVar Miner

Variants from Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

Location: Turkey  Primary collection method: research
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Gene type:
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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
40 62 33 11 54 200

Gene and significance breakdown #

Total genes and gene combinations: 73
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
​intergenic 0 0 0 0 30 30
SOD1 4 12 0 0 0 16
FUS 4 3 0 0 0 7
SYNE1 2 0 0 0 5 7
TARDBP 1 6 0 0 0 7
CHRNA3 0 4 1 0 0 5
DCTN1 0 0 2 1 2 5
ERBB4 0 1 3 0 1 5
PDZD2 0 0 0 0 5 5
VCP 0 4 1 0 0 5
ALS2 2 2 0 0 0 4
CHRNA4 0 0 1 3 0 4
DAO 0 0 2 2 0 4
FIG4 0 1 1 2 0 4
OPTN 1 3 0 0 0 4
PARK7 2 1 1 0 0 4
SOD1, SOD1-DT 2 2 0 0 0 4
SPG11 3 1 0 0 0 4
CHRNB4 0 0 1 0 2 3
PNPLA6 0 0 3 0 0 3
PRKN 2 0 1 0 0 3
SETX 0 0 2 1 0 3
ANG, EGILA, RNASE4 0 0 2 0 0 2
APTX 1 1 0 0 0 2
C19orf12 0 2 0 0 0 2
DNAJB2 0 2 0 0 0 2
FKBP15 0 0 0 0 2 2
PLEKHG5 1 1 0 0 0 2
PSEN1 2 0 0 0 0 2
SC5D 0 0 0 0 2 2
SIGMAR1 0 2 0 0 0 2
TBK1 1 1 0 0 0 2
UBQLN2 0 0 2 0 0 2
VRK1 1 1 0 0 0 2
ZFYVE26 1 1 0 0 0 2
ADAM7 0 0 0 0 1 1
AOPEP 0 1 0 0 0 1
APP 1 0 0 0 0 1
ATP2A1 1 0 0 0 0 1
CHCHD10 0 1 0 0 0 1
DSTYK 0 0 1 0 0 1
EIF4G1 0 0 1 0 0 1
ELP3 0 0 1 0 0 1
ERLIN1 1 0 0 0 0 1
FBXO38 0 1 0 0 0 1
FLCN 1 0 0 0 0 1
GCH1 1 0 0 0 0 1
GREM2 0 0 0 0 1 1
GRN 1 0 0 0 0 1
HTRA1 1 0 0 0 0 1
IGHMBP2 0 1 0 0 0 1
KIF5A 0 1 0 0 0 1
KRT19 0 0 0 0 1 1
LMNA 0 1 0 0 0 1
LOC108903148, OPTN 1 0 0 0 0 1
LOC126862565 0 0 0 0 1 1
LRRK2 0 0 1 0 0 1
NEK1 0 0 1 0 0 1
OR9G1 0 0 0 1 0 1
PARK7, TNFRSF9 1 0 0 0 0 1
PEX16 0 1 0 0 0 1
PFN1 0 0 1 0 0 1
PON1 0 0 1 0 0 1
PON3 0 0 0 1 0 1
PRNP 0 1 0 0 0 1
PRPH, TROAP 0 0 1 0 0 1
SLC52A3 0 1 0 0 0 1
SPECC1 0 0 0 0 1 1
SPG7 1 0 0 0 0 1
SQSTM1 0 0 1 0 0 1
TFG 0 1 0 0 0 1
TRPM7 0 0 1 0 0 1
TRPV4 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not specified 0 0 2 6 49 57
Amyotrophic lateral sclerosis 0 6 21 5 5 37
Amyotrophic lateral sclerosis type 1 6 14 0 0 0 20
Juvenile amyotrophic lateral sclerosis 6 2 1 0 0 9
Amyotrophic lateral sclerosis type 10 1 6 0 0 0 7
Amyotrophic lateral sclerosis type 12 2 3 0 0 0 5
Amyotrophic lateral sclerosis type 6 2 3 0 0 0 5
Amyotrophic lateral sclerosis type 2, juvenile 2 2 0 0 0 4
Amyotrophic lateral sclerosis type 5 3 1 0 0 0 4
Autosomal recessive juvenile Parkinson disease 2 2 0 1 0 0 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 1 2 0 0 0 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0 3 0 0 0 3
Alzheimer disease 3 2 0 0 0 0 2
Amyotrophic lateral sclerosis type 15 0 0 2 0 0 2
Amyotrophic lateral sclerosis type 16 0 2 0 0 0 2
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 1 0 0 0 2
Autosomal recessive early-onset Parkinson disease 7 1 1 0 0 0 2
Hereditary spastic paraplegia 15 1 1 0 0 0 2
Neurodegeneration with brain iron accumulation 4 0 2 0 0 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 2 0 0 0 2
Alzheimer disease type 1 1 0 0 0 0 1
Amyotrophic Lateral Sclerosis with Sensory Neuropathy 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 19 0 1 0 0 0 1
Amyotrophic lateral sclerosis type 4 0 0 1 0 0 1
Amyotrophic lateral sclerosis type 9 0 0 1 0 0 1
Amyotrophic lateral sclerosis-parkinsonism-dementia complex 1 0 0 0 0 1
Autosomal dominant Parkinson disease 8 0 0 1 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 0 0 1
Brody myopathy 1 0 0 0 0 1
CARASIL syndrome 1 0 0 0 0 1
Dystonia 31 0 1 0 0 0 1
Dystonia 5 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 0 1 0 0 0 1
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 1 0 0 0 0 1
Gerstmann-Straussler-Scheinker syndrome 0 1 0 0 0 1
Hereditary spastic paraplegia 23 0 0 1 0 0 1
Hereditary spastic paraplegia 7 1 0 0 0 0 1
Juvenile-onset Parkinson disease 1 0 0 0 0 1
Madras motor neuron disease 0 1 0 0 0 1
Motor neuron disease; Juvenile-onset Parkinson disease 0 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 2D 0 1 0 0 0 1
Parkinson disease 18, autosomal dominant, susceptibility to 0 0 1 0 0 1
Peroxisome biogenesis disorder 8B 0 1 0 0 0 1
Scapuloperoneal spinal muscular atrophy 0 1 0 0 0 1
Spinal muscular atrophy 1 0 0 0 0 1

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