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Links from MedGen

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR2F, SOX10
(S224*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(R161C)
Single nucleotide variant
(missense variant +1 more)
Deafness with anatomical inner ear anomalies
+4 more
GPathogenic/Likely pathogenic
POLR2F, SOX10
(E284*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GLikely pathogenic
POLR2F, SOX10
(A323fs)
Duplication
(frameshift variant +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(A132G)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(G365R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
(M90fs)
Deletion
(frameshift variant +1 more)
Waardenburg syndrome type 1
+1 more
GPathogenic
POLR2F, SOX10
Single nucleotide variant
(stop lost +1 more)
PCWH syndrome
GLikely pathogenic
POLR2F, SOX10
(G61S)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(G389S)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(R215Q)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(S314*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(W142S)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(F392fs)
Duplication
(frameshift variant +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
Single nucleotide variant
(5 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(5 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
LOC129391280, POLR2F
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(F68L)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(V326M)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+2 more
GUncertain significance
POLR2F, SOX10
(D371N)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(D371Y)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(S415L)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+2 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GBenign
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(5 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(A210T)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(C71fs)
Deletion
(frameshift variant +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(S135N)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome type 4C
+1 more
GPathogenic/Likely pathogenic
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
(H454fs)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
PCWH syndrome
+2 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
(V92L)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome
+3 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
(M112V)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+2 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(intron variant +1 more)
PCWH syndrome
+5 more
GBenign/Likely benign
POLR2F, SOX10
(A44G)
Single nucleotide variant
(missense variant +1 more)
Waardenburg syndrome
+3 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
Single nucleotide variant
(5 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(G41V)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
POLR2F, SOX10
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
(L249Q)
Single nucleotide variant
(missense variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
Waardenburg syndrome
+1 more
GBenign
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
Waardenburg syndrome
+1 more
GBenign
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
LOC129391280, POLR2F
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GBenign
LOC129391280, POLR2F
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GLikely benign
POLR2F, SOX10
Microsatellite
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GLikely benign
POLR2F, SOX10
Single nucleotide variant
(3 prime UTR variant +1 more)
PCWH syndrome
+1 more
GUncertain significance
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
Waardenburg syndrome
+5 more
GBenign
POLR2F, SOX10
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
POLR2F, SOX10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign
POLR2F, SOX10
(S376*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GLikely pathogenic
POLR2F, SOX10
(H306fs)
Deletion
(frameshift variant +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(G266fs)
Deletion
(frameshift variant +1 more)
PCWH syndrome
+1 more
GConflicting classifications of pathogenicity
POLR2F, SOX10
(Q250*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
Deletion
(stop lost +1 more)
PCWH syndrome
GLikely pathogenic
POLR2F, SOX10
(S251*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GPathogenic
POLR2F, SOX10
(Y313*)
Single nucleotide variant
(nonsense +1 more)
PCWH syndrome
GPathogenic
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