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Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
(P1987R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(R1939Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GPathogenic
OTOF
(R1939W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
OTOF
(L1934fs +2 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
OTOF
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(G1888D +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(R1856Q +2 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
+1 more
GPathogenic/Likely pathogenic
OTOF
(P1825A +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(E1804del +2 more)
Microsatellite
(inframe_deletion)
Rare genetic deafness
GLikely pathogenic
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
OTOF
(F1795C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(E1733K +2 more)
Single nucleotide variant
(missense variant)
Auditory neuropathy spectrum disorder
+1 more
GPathogenic/Likely pathogenic
LOC112840921, OTOF
(E1700Q +2 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
OTOF
(W904fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
Single nucleotide variant
(splice donor variant)
Auditory neuropathy, autosomal recessive, 1
GPathogenic
OTOF
(P1646S +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OTOF
(V1625M +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GBenign
OTOF
(R1607W +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(Y1603* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(I1573T +2 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
+3 more
GPathogenic/Likely pathogenic
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(R1520Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(Y730* +2 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
GPathogenic
OTOF
(R1495* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
+3 more
GPathogenic
OTOF
(I723fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(G1451* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(W1425* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
OTOF
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
OTOF
(T1386I +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(D1322E +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(R1157Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
(L1138P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
(R1134* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
OTOF
(A1090E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(A1083P +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OTOF
(R1080P +2 more)
Single nucleotide variant
(missense variant)
Bilateral sensorineural hearing impairment
GLikely pathogenic
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OTOF
(L1011P +2 more)
Single nucleotide variant
(missense variant)
Auditory neuropathy, autosomal recessive, 1
GPathogenic
OTOF
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
OTOF
(Q304fs +2 more)
Microsatellite
(frameshift variant)
Rare genetic deafness
+1 more
GPathogenic
OTOF
(A222fs +2 more)
Indel
(frameshift variant)
Bilateral sensorineural hearing impairment
GLikely pathogenic
OTOF
(A964E +2 more)
Single nucleotide variant
(missense variant)
Bilateral sensorineural hearing impairment
GPathogenic
OTOF
(R963* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
OTOF
(Y223fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
OTOF
(G148fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(C883* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
OTOF
(Q829* +2 more)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
OTOF
(R822W +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(R794H +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
(G783fs +2 more)
Deletion
(frameshift variant)
Rare genetic deafness
+4 more
GPathogenic
OTOF
(R773C +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(C772* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
LOC129933334, OTOF
(E747* +1 more)
Single nucleotide variant
(nonsense +1 more)
Rare genetic deafness
+3 more
GPathogenic
OTOF
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(R708*)
Single nucleotide variant
(nonsense)
Nonsyndromic genetic hearing loss
GPathogenic
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(R656fs)
Deletion
(frameshift variant)
not provided
GPathogenic
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OTOF
(P630fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(G614E)
Single nucleotide variant
(missense variant)
Bilateral sensorineural hearing impairment
GLikely pathogenic
OTOF
(E594K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(S581fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(V575M)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GBenign
OTOF
(L573R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(E551fs)
Deletion
(frameshift variant)
Auditory neuropathy, autosomal recessive, 1
GPathogenic
OTOF
Deletion
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(W536*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(P534fs)
Deletion
(frameshift variant)
not provided
GPathogenic
OTOF
(R518fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
OTOF
(I515T)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+1 more
GLikely pathogenic
OTOF
(P490Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
OTOF
(R425*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
OTOF
(E413fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
OTOF
(D398E)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOF
(E394fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(G368fs)
Indel
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 9
+2 more
GBenign/Likely benign
OTOF
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
OTOF
(Q255H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
Gnot provided
OTOF
(R237*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
OTOF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
OTOF
(R82C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OTOF
(A53V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OTOF
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Deletion
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Deletion
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Single nucleotide variant
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Deletion
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
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