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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
WDR45
(R234* +1 more)
Single nucleotide variant
(nonsense)
not provided
+8 more
GPathogenic
WDR45
(L201fs +1 more)
Microsatellite
(frameshift variant)
Neurodegeneration with brain iron accumulation 5
GLikely pathogenic