S I D E B A R
Format
Sort by

Download:

Choose Destination

Links from PubMed

Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr21:47551895
Chr21:47551933
GRCh38:
Chr21:46131981
Chr21:46132019
COL6A2BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVEPathogenic
(Dec 1, 2009)
no assertion criteria provided
2.
GRCh37:
Chr21:47546449
GRCh38:
Chr21:46126535
COL6A2Myosclerosis, autosomal recessive, not provided, BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
Pathogenic
(Aug 5, 2015)
criteria provided, single submitter
Support Center