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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GRIA3
(Y156H)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 94
+1 more
GConflicting classifications of pathogenicity
GRIA3
(G194R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ABCB7, ABCD1
+510 more
Copy number gain
not provided
GPathogenic
ABCB7, ABCD1
+514 more
Copy number gain
See cases
GPathogenic
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