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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEDD4L
(R139* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
NEDD4L
(R208Q +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
NEDD4L
(R327W +6 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NEDD4L
(R897Q +6 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+1 more
GConflicting classifications of pathogenicity
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