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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIG4
(K568fs +2 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
LIG4
(I584fs +2 more)
Deletion
(frameshift variant)
DNA ligase IV deficiency
+1 more
GPathogenic
LIG4
(H229R +2 more)
Single nucleotide variant
(missense variant)
LIG4-related condition
+3 more
GConflicting classifications of pathogenicity
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