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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF8
(S737* +3 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
PHF8
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PHF8
Single nucleotide variant
(splice acceptor variant)
not provided
GConflicting classifications of pathogenicity
PHF8
(D21G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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