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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIG4
(K357fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic
LIG4
(K295E +2 more)
Single nucleotide variant
(missense variant)
DNA ligase IV deficiency
GLikely pathogenic