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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF12
(D902N)
Single nucleotide variant
(missense variant +1 more)
PHF12-related disorder
GUncertain significance
PHF12
Single nucleotide variant
(synonymous variant +1 more)
PHF12-related disorder
GBenign
PHF12
(V195I)
Single nucleotide variant
(missense variant)
PHF12-related disorder
GUncertain significance
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