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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EPB41L3
(R407Q +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ADCYAP1, AKAIN1
+29 more
Copy number loss
not provided
GPathogenic
PRELID3A, PSMG2
+65 more
Copy number gain
not provided
GPathogenic
AKAIN1, DLGAP1
+2 more
Copy number gain
not provided
GLikely benign
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