Gene Symbol:
MYL2
HGNC:7583
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q24.11
Filters:

Definitive classifications

hypertrophic cardiomyopathy 10
AD
04/25/2022
Evaluated
09/11/2023
Submitted
hypertrophic cardiomyopathy 10
AD
02/07/2017
Evaluated
04/21/2024
Submitted
hypertrophic cardiomyopathy
AD
07/13/2021
Evaluated
04/21/2024
Submitted

Strong classifications

hypertrophic cardiomyopathy 10
Submitted as: OMIM:608758
AD
08/06/2020
Evaluated
11/06/2020
Submitted
hypertrophic cardiomyopathy 10
Submitted as: OMIM:608758
AD
04/19/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Submitted as: OMIM:619424
AR
09/14/2022
Evaluated
08/19/2023
Submitted

Supportive classifications

congenital fiber-type disproportion myopathy
Submitted as: Orphanet:2020
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

dilated cardiomyopathy
AD
10/09/2020
Evaluated
04/21/2024
Submitted

No Known Disease Relationship classifications

arrhythmogenic right ventricular cardiomyopathy
AD
05/24/2019
Evaluated
04/21/2024
Submitted

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