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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129996415, LOC129996416
+435 more
Copy number loss
See cases
GPathogenic
LOC132089395, LOC132089396
+324 more
Copy number loss
See cases
GPathogenic
LOC129996432, PRICKLE4
(E242K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129996432, PRICKLE4
(G258V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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