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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADSS1
(D304N +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ADSS1
(I307fs +2 more)
Deletion
(frameshift variant)
Myopathy, distal, 5
+1 more
GPathogenic