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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CWC27
(I41V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CWC27
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CWC27
(T397fs)
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
CWC27
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NLN, PPWD1
+10 more
Copy number loss
not provided
GPathogenic
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