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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
LOC101929174, LOC102723838
+378 more
Copy number loss
See cases
GPathogenic
LOC130006599, PANX1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130006599, PANX1
(Q5H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
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