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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSF1R
(E485G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary diffuse leukoencephalopathy with spheroids
GUncertain significance
CSF1R
(G441R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
CSF1R
(K209* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary diffuse leukoencephalopathy with spheroids
GLikely pathogenic
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