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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC130065861, LOC130065862
+568 more
Copy number loss
See cases
GPathogenic
LOC125387319, LOC125387320
+1024 more
Copy number gain
See cases
GPathogenic
LOC126863038, PCIF1
(V349I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126863038, PCIF1
(S350L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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