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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125467786, LOC125467787
+1203 more
Copy number loss
See cases
GPathogenic
MIR2114, MIR224
+718 more
Copy number gain
See cases
GPathogenic
BCAP31, BGN
+200 more
Copy number gain
See cases
GPathogenic
ARHGAP4, AVPR2
+64 more
Copy number gain
See cases
GPathogenic
ARHGAP4, AVPR2
+66 more
Copy number gain
See cases
GPathogenic
ARHGAP4, AVPR2
+64 more
Copy number gain
See cases
GPathogenic
ATP6AP1, ATP6AP1-DT
+58 more
Copy number gain
See cases
GUncertain significance
FLNA, LOC130068857
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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