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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR2F, SOX10
(N109K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
POLR2F, SOX10
(W85*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
POLR2F, SOX10
(C71G)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 4C
+3 more
GUncertain significance
POLR2F, SOX10
(G61S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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