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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNNM4
(R236Q)
Single nucleotide variant
(missense variant)
Jalili syndrome
GPathogenic/Likely pathogenic
CNNM4
(D498E)
Single nucleotide variant
(missense variant)
Jalili syndrome
GPathogenic