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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
ABI2, ADAM23
+293 more
Copy number loss
See cases
GPathogenic
CCNYL1, FZD5
+15 more
Copy number gain
See cases
GUncertain significance
FZD5
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FZD5
(T440fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
FZD5
(S425*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FZD5
(D149fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
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