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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A3
(G1476D +4 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
COL6A3
Copy number loss
Dystonia 27
GLikely pathogenic