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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
SYN2
(A302G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SYN2
(D464H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SYN2
(T506A)
Single nucleotide variant
(missense variant)
not provided
GBenign
SYN2
(L524fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
ARPC4, ARPC4-TTLL3
+39 more
Copy number loss
See cases
GPathogenic
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