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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059506, LOC130059507
+447 more
Copy number loss
See cases
GPathogenic
JPH3
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
JPH3
(I733N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACSF3, APRT
+23 more
Copy number gain
See cases
GUncertain significance
ACSF3, ADAD2
+127 more
Copy number gain
See cases
GPathogenic
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