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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APBA1, BANCR
+40 more
Copy number loss
See cases
GPathogenic
PRKACG
Insertion
(3 prime UTR variant)
not provided
GBenign
PRKACG
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PRKACG
(H268D)
Single nucleotide variant
(missense variant)
not provided
GBenign
PRKACG
Microsatellite
not provided
GBenign
PRKACG
Single nucleotide variant
not provided
GBenign
PRKACG
Single nucleotide variant
not provided
GBenign
TJP2, PABIR1
+5 more
Copy number gain
See cases
GUncertain significance
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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