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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UBE2A
(R11Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
UBE2A
(G23R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
UBE2A
(Q128* +2 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability Nascimento type
GPathogenic
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