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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
RD3
(R15Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RD3
(S5fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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