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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF8
(G1023S +2 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Siderius type
GUncertain significance
PHF8
(E610A +3 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Siderius type
GUncertain significance
PHF8
Single nucleotide variant
(splice acceptor variant)
Syndromic X-linked intellectual disability Siderius type
GConflicting classifications of pathogenicity
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