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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC127814297, POU4F3
(Q225H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(V167M)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 15
Gnot provided
LOC127814297, POU4F3
(F293L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant nonsyndromic hearing loss 15
GLikely pathogenic
LOC127814297, POU4F3
(L248P)
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal dominant nonsyndromic hearing loss 15
GLikely pathogenic
POU4F3, LOC127814297
(A189fs)
Duplication
(3 prime UTR variant +1 more)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(G202R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(W321fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(G160fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GLikely pathogenic
LOC127814297, POU4F3
(H13fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(S23fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(Q249K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
+1 more
GUncertain significance
LOC127814297, POU4F3
(E232*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(E18fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(P125S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(V318M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GLikely pathogenic
POU4F3, LOC127814297
(A257V)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(Q296*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
LOC127814297, POU4F3
(A62fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(L212P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GLikely pathogenic
LOC127814297, POU4F3
(H109Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(E232D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GLikely pathogenic
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
(G202A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(L201P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
+1 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
(H170Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 15
+1 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
(A61E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(H109Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(H99Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
+2 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 15
+1 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
(H72D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
(S171R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
POU4F3, LOC127814297
(R185C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(A168fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC127814297, POU4F3
(N316K)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(R193C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
(H148Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC127814297, POU4F3
(A38D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
Single nucleotide variant
(5 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 15
GUncertain significance
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LOC127814297, POU4F3
(P135S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
LOC127814297, POU4F3
(G221fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(R326K)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LOC127814297, POU4F3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LOC127814297, POU4F3
(L223P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC127814297, POU4F3
(L289F)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
LOC127814297, POU4F3
(I295fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 15
GPathogenic
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