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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA7, ARHGAP45
+168 more
Copy number gain
See cases
GPathogenic
LOC130062906, LOC130062907
+222 more
Copy number loss
See cases
GPathogenic
GRIN3B
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
GRIN3B
(H117Y)
Single nucleotide variant
(missense variant)
not provided
GBenign
GRIN3B
(T577M)
Single nucleotide variant
(missense variant)
not provided
GBenign
GRIN3B
(P1039R)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABCA7, ABHD17A
+87 more
Copy number gain
See cases
GPathogenic
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