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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM5B
(R1243* +3 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
KDM5B
(Y685fs +3 more)
Insertion
(frameshift variant)
not provided
GUncertain significance