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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
PCWH syndrome
+5 more
GBenign
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
PCWH syndrome
+4 more
GBenign/Likely benign
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
Waardenburg syndrome
+3 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
(A202fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
POLR2F, SOX10
(G192S)
Single nucleotide variant
(missense variant +1 more)
SOX10-related condition
+1 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
SOX10-related condition
+2 more
GConflicting classifications of pathogenicity
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