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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF8
Deletion
(splice donor variant)
Syndromic X-linked intellectual disability Siderius type
GPathogenic
PHF8
(F279S +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Siderius type
GPathogenic
PHF8
(H247fs +1 more)
Duplication
(frameshift variant)
Syndromic X-linked intellectual disability Siderius type
GPathogenic
PHF8
(R211* +1 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Siderius type
GPathogenic
PHF8
(K177* +1 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Siderius type
GPathogenic
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