Gene Symbol:
COL6A2
HGNC:2212
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
21q22.3
Filters:

Definitive classifications

Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AD
07/09/2021
Evaluated
09/11/2023
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AR
07/09/2021
Evaluated
09/11/2023
Submitted
collagen 6-related myopathy
AD
06/27/2022
Evaluated
04/21/2024
Submitted
collagen 6-related myopathy
AR
06/27/2022
Evaluated
04/21/2024
Submitted

Strong classifications

Bethlem myopathy 1A
Submitted as: OMIM:158810
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Bethlem myopathy 1A
Submitted as: OMIM:158810
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AD
07/27/2020
Evaluated
11/30/2023
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AR
07/27/2020
Evaluated
11/30/2023
Submitted

Supportive classifications

Bethlem myopathy
Submitted as: Orphanet:610
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Ullrich congenital muscular dystrophy
Submitted as: Orphanet:75840
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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