ClinVar Miner

Variants from CMT Laboratory, Bogazici University

Location: Turkey  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
22 4 6 0 0 32

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SH3TC2 4 1 0 5
MFN2 3 1 0 4
GDAP1 3 0 0 3
GJB1 2 0 0 2
HINT1 2 0 0 2
PRX 2 0 0 2
AP5Z1 0 0 1 1
EGR2 1 0 0 1
FXN 0 0 1 1
GDAP1, LOC130000622 1 0 0 1
LOC101928008, SBF2 0 0 1 1
MME 1 0 0 1
MPV17 1 0 0 1
MPZ 0 0 1 1
MTRFR 0 1 0 1
NDRG1 1 0 0 1
NEFL 0 1 0 1
SACS 1 0 0 1
SEPTIN11 0 0 1 1
SPG7 0 0 1 1

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance total
Charcot-Marie-Tooth disease type 4C 4 1 0 5
Charcot-Marie-Tooth disease type 4A 4 0 0 4
Charcot-Marie-Tooth disease type 2A2 3 0 0 3
Autosomal recessive axonal neuropathy with neuromyotonia 2 0 0 2
Charcot-Marie-Tooth disease X-linked dominant 1 2 0 0 2
Charcot-Marie-Tooth disease type 4F 2 0 0 2
Autosomal recessive cerebellar ataxia 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2T 1 0 0 1
Charcot-Marie-Tooth disease type 1B 0 0 1 1
Charcot-Marie-Tooth disease type 1D 1 0 0 1
Charcot-Marie-Tooth disease type 1F 0 1 0 1
Charcot-Marie-Tooth disease type 4B2 0 0 1 1
Charcot-Marie-Tooth disease type 4D 1 0 0 1
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 1 0 0 1
Charcot-Marie-Tooth-like disease 0 0 1 1
Charlevoix-Saguenay spastic ataxia 1 0 0 1
Hereditary motor and sensory neuropathy with optic atrophy 0 1 0 1
Hereditary spastic paraplegia 48 0 0 1 1
Hereditary spastic paraplegia 7 0 0 1 1

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