Gene Symbol:
CACNA1C
HGNC:1390
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12p13.33
Filters:

Brugada syndrome classifications

Brugada syndrome
Submitted as: Orphanet:130
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Brugada syndrome 3 classifications

AD
03/02/2021
Evaluated
03/31/2021
Submitted
Brugada syndrome 3
Submitted as: OMIM:611875
AD
04/06/2020
Evaluated
03/02/2021
Submitted
Brugada syndrome 3
Submitted as: OMIM:611875
AD
11/18/2019
Evaluated
11/30/2023
Submitted

Intellectual disability classifications

intellectual disability
AD
08/23/2018
Evaluated
09/28/2021
Submitted

Long QT syndrome classifications

AD
04/24/2020
Evaluated
04/21/2024
Submitted

Long qt syndrome 8 classifications

long qt syndrome 8
Submitted as: OMIM:618447
AD
09/17/2015
Evaluated
03/02/2021
Submitted

Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures classifications

neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Submitted as: OMIM:620029
AD
02/24/2022
Evaluated
08/19/2023
Submitted

Short QT syndrome classifications

Timothy syndrome classifications

Timothy syndrome
Submitted as: OMIM:601005
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Timothy syndrome
Submitted as: OMIM:601005
AD
09/16/2015
Evaluated
03/02/2021
Submitted
Timothy syndrome
Submitted as: Orphanet:65283
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
05/25/2022
Evaluated
09/11/2023
Submitted
Timothy syndrome
Submitted as: OMIM:601005
AD
02/15/2023
Evaluated
11/30/2023
Submitted

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