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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR2F, SOX10
(G389S)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(S224*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(G61S)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
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