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Links from OMIM

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATAD1
(H238fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CACNG2
(V120L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 10
Gno classifications from unflagged records
GRIA3
(R631S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
GPathogenic
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