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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC00700, LINC00701
+837 more
Copy number gain
See cases
GPathogenic
LOC130003254, LOC130003255
+1221 more
Copy number gain
See cases
GBenign
ABI1, ACBD5
+376 more
Copy number gain
See cases
GLikely pathogenic
ARHGAP21, ENKUR
+35 more
Copy number loss
See cases
GPathogenic
KIAA1217, LOC126860883
(Y111H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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