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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL12A1
(I1333T +1 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 2
+1 more
GUncertain significance
COL12A1
(T1096A +1 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 2
GUncertain significance