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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFHC2
(C57Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DUSP21, EFHC2
+5 more
Deletion
Kabuki syndrome 2
GPathogenic