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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A1
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1
+2 more
GPathogenic
COL6A1
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
COL6A1
Single nucleotide variant
(intron variant)
Bethlem myopathy 1
GPathogenic
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