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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DCT, GPC5
+121 more
Copy number loss
See cases
GPathogenic
ABCC4, CLDN10
+168 more
Copy number loss
See cases
GPathogenic
DCT
(N130D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCC4, ABHD13
+94 more
Copy number loss
See cases
GPathogenic
GTF2F2, LINC00567
+332 more
Copy number gain
See cases
GPathogenic
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