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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR3B
(V523E +1 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GPathogenic/Likely pathogenic
POLR3B
(S528F +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, demyelinating, IIA 1I
GUncertain significance