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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMPH, ANLN
+229 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
SNORA5A, SNORA5B
+212 more
Copy number loss
See cases
GPathogenic
LOC129998295, MPLKIP
(R59S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129998295, MPLKIP
Duplication
(frameshift variant)
not provided
GPathogenic
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