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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130068896, LOC130068897
+1 more
Deletion
Early-onset parkinsonism-intellectual disability syndrome
GPathogenic
RAB39B
(T129I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RAB39B
(G192R)
Single nucleotide variant
(missense variant)
Parkinson disease, X-linked dominant
GPathogenic
CLIC2, LOC130068896
+2 more
Deletion
Early-onset parkinsonism-intellectual disability syndrome
GPathogenic
RAB39B
(T168K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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