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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC88A
(Q447R)
Single nucleotide variant
(missense variant)
PEHO-like syndrome
GUncertain significance
CCDC88A
(R144S)
Single nucleotide variant
(missense variant)
PEHO-like syndrome
GUncertain significance