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Items: 9

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, LOC129935506
(R532P)
Single nucleotide variant
(missense variant)
not provided
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
FZD5
(N53K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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