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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADK, LOC102723439
(S180fs +2 more)
Microsatellite
(frameshift variant +1 more)
Adenosine kinase deficiency
GLikely pathogenic
ADK
(Q232* +4 more)
Single nucleotide variant
(nonsense +1 more)
Adenosine kinase deficiency
GLikely pathogenic