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CMT Laboratory (Bogazici University)

General information

CMT Laboratory
Bogazici University
Nispetiye
Istanbul
Turkey - 34342
http://www.bio.boun.edu.tr
Organization ID: 507997

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 32

Gene

GeneSubmissionsLast Updated
AP5Z11Mar 22, 2021
EGR21Mar 22, 2021
FXN1Mar 22, 2021
GDAP14Mar 22, 2021
GJB12Mar 22, 2021
HINT12Mar 22, 2021
LOC1019280081Mar 22, 2021
LOC1300006221Mar 22, 2021
MFN24Mar 22, 2021
MME1Mar 22, 2021
MPV171Mar 22, 2021
MPZ1Mar 22, 2021
MTRFR1Mar 22, 2021
NDRG11Mar 22, 2021
NEFL1Mar 22, 2021
PRX2Mar 22, 2021
SACS1Mar 22, 2021
SBF21Mar 22, 2021
SEPTIN111Mar 22, 2021
SH3TC25Mar 22, 2021
SPG71Mar 22, 2021

Condition

NameSubmissionsLast Updated
Autosomal recessive axonal neuropathy with neuromyotonia2Mar 22, 2021
Autosomal recessive cerebellar ataxia1Mar 22, 2021
Charcot-Marie-Tooth disease X-linked dominant 12Mar 22, 2021
Charcot-Marie-Tooth disease axonal type 2T1Mar 22, 2021
Charcot-Marie-Tooth disease type 1B1Mar 22, 2021
Charcot-Marie-Tooth disease type 1D1Mar 22, 2021
Charcot-Marie-Tooth disease type 1F1Mar 22, 2021
Charcot-Marie-Tooth disease type 2A23Mar 22, 2021
Charcot-Marie-Tooth disease type 4A4Mar 22, 2021
Charcot-Marie-Tooth disease type 4B21Mar 22, 2021
Charcot-Marie-Tooth disease type 4C5Mar 22, 2021
Charcot-Marie-Tooth disease type 4D1Mar 22, 2021
Charcot-Marie-Tooth disease type 4F2Mar 22, 2021
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;1Mar 22, 2021
Charcot-Marie-Tooth disease, axonal, type 2EE1Mar 22, 2021
Charcot-Marie-Tooth-like disease1Mar 22, 2021
Charlevoix-Saguenay spastic ataxia1Mar 22, 2021
Hereditary motor and sensory neuropathy with optic atrophy1Mar 22, 2021
Hereditary spastic paraplegia 481Mar 22, 2021
Hereditary spastic paraplegia 71Mar 22, 2021