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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F4
(A20V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F4
(S40T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POU3F4
(P47S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
POU3F4
Deletion
(nonsense)
not provided
GPathogenic
POU3F4
(L61P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
POU3F4
(G84R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
(R97G)
Single nucleotide variant
(missense variant)
not provided
GBenign
POU3F4
(A102G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F4
(W114*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
POU3F4
(P118L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
POU3F4
(P120Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POU3F4
(T125K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
(L131fs)
Deletion
(frameshift variant)
not provided
GPathogenic
POU3F4
(T140P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
POU3F4
(P170fs)
Deletion
(frameshift variant)
not provided
GPathogenic
POU3F4
(P169L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
POU3F4
(P170R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
(H172D)
Single nucleotide variant
(missense variant)
not provided
GBenign
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F4
(T188M)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
POU3F4
(Q196H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
POU3F4
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
POU3F4
Single nucleotide variant
(no sequence alteration)
X-linked mixed hearing loss with perilymphatic gusher
+2 more
GBenign
POU3F4
(A237G)
Single nucleotide variant
(missense variant)
not provided
GBenign
POU3F4
Single nucleotide variant
(no sequence alteration)
X-linked mixed hearing loss with perilymphatic gusher
+2 more
GBenign
POU3F4
(K249E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
POU3F4
(R282G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POU3F4
(P303S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
POU3F4
Deletion
not provided
GPathogenic
RPS6KA6, SATL1
+9 more
Deletion
not provided
GPathogenic
APOOL, CHM
+9 more
Deletion
not provided
GPathogenic
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