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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENTREP2, NSMCE3
(T196A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
APBA2, ARHGAP11B
+13 more
Copy number loss
not provided
GPathogenic
APBA2, ARHGAP11A
+47 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
APBA2, ARHGAP11B
+44 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
APBA2, ARHGAP11A
+50 more
Copy number loss
Prader-Willi syndrome
+1 more
GPathogenic
IPW, GABRG3
+37 more
Copy number gain
15q11q13 microduplication syndrome
GPathogenic
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