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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A3
Single nucleotide variant
(intron variant)
Bethlem myopathy 1A
Gnot provided
COL6A3
Single nucleotide variant
(splice donor variant)
Bethlem myopathy 1A
+2 more
GPathogenic