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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL12A1
Single nucleotide variant
(splice donor variant)
Bethlem myopathy 2
GUncertain significance
COL12A1
(G1625R +1 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 2
+2 more
GConflicting classifications of pathogenicity
COL12A1
Single nucleotide variant
(splice donor variant)
Bethlem myopathy 2
GLikely pathogenic
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