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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL6A3
(M299K +3 more)
Single nucleotide variant
(missense variant)
Bethlem myopathy 1A
GUncertain significance
D2HGDH, DTYMK
+57 more
Deletion
Intellectual disability
GPathogenic