Gene Symbol:
COL6A3
HGNC:2213
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q37.3
Filters:

Definitive classifications

Ullrich congenital muscular dystrophy 1
Submitted as: OMIM:254090
AR
01/08/2016
Evaluated
11/25/2020
Submitted
Bethlem myopathy 1
Submitted as: OMIM:158810
SD
09/14/2015
Evaluated
12/24/2020
Submitted
collagen 6-related myopathy
SD
05/24/2021
Evaluated
08/16/2021
Submitted

Strong classifications

Bethlem myopathy 1
Submitted as: OMIM:158810
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1
Submitted as: OMIM:254090
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Bethlem myopathy 1
Submitted as: OMIM:158810
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1
Submitted as: OMIM:254090
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1
Submitted as: OMIM:254090
SD
09/14/2015
Evaluated
12/24/2020
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

Limited classifications

Disputed Evidence classifications

AR
08/30/2018
Evaluated
12/24/2020
Submitted

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