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Links from MedGen

Items: 95

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOG
(Q899* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(S962* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
(W2151* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(D294fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
(Q1976fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
(R2878C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
(Y2562* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
Deletion
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(Y1194* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(R1377H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(R1421W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(G1097S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
(L26Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(Y841* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(V214A +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(Q1732* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GConflicting classifications of pathogenicity
OTOG
(G1729R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(N2840K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
(D2112N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(S695F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
(V2707M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
(A694T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(S1762* +1 more)
Duplication
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
(T1461fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(D2241fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GPathogenic
OTOG
(G2023fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(Y471fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(Q1437* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(E707fs +1 more)
Duplication
(frameshift variant)
Rare genetic deafness
+1 more
GPathogenic/Likely pathogenic
OTOG
(R1378W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GBenign
OTOG
(P1174L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
(A1989G +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GLikely benign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
OTOG
(D2376N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(I860F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(Y383C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(C2374Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GUncertain significance
OTOG
(R2365C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(H2066R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(S1911Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(S1839F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(V1813G +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
(Q332H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
Deletion
(splice donor variant)
not provided
+1 more
GLikely pathogenic
OTOG
(Q556* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GPathogenic/Likely pathogenic
OTOG
(R2485fs +1 more)
Deletion
(frameshift variant)
OTOG-related disorder
+3 more
GPathogenic/Likely pathogenic
OTOG
(T2288I +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
OTOG
(W2632* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
GLikely pathogenic
OTOG
(F214del +1 more)
Microsatellite
(inframe_deletion)
not provided
+2 more
GUncertain significance
OTOG
(R2485* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
OTOG
(R2565P +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
OTOG
(A2464fs +1 more)
Duplication
(frameshift variant)
OTOG-related disorder
+2 more
GPathogenic/Likely pathogenic
OTOG
(R1165* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
OTOG
(D2721N +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
OTOG
(R1602S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
OTOG
(R1425Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GBenign/Likely benign
OTOG
(V2073M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOG
(Y110* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GPathogenic
OTOG
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OTOG
(R2072H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
OTOG
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
OTOG
(Q834* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
+4 more
GPathogenic/Likely pathogenic
OTOG
(L1794P +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
OTOG
(R626W +1 more)
Single nucleotide variant
(missense variant)
OTOG-related disorder
+2 more
GConflicting classifications of pathogenicity
OTOG
(A318T +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GUncertain significance
OTOG
(G145S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
OTOG
(P1626L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(H312R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely benign
OTOG
(T2794M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OTOG
Duplication
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GConflicting classifications of pathogenicity
OTOG
(V141M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOG
(A124G +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
OTOG
(Q407P +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
OTOG
(R1350W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OTOG
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GBenign/Likely benign
OTOG
(W2909S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
OTOG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
OTOG
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GBenign
OTOG
(A2037V +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
OTOG
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
OTOG
(A1375P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GBenign
OTOG
(A919T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
OTOG
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
OTOG
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GBenign
OTOG
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GBenign
OTOG
(S692P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
+2 more
GBenign
OTOG
(R2335W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OTOG
(R2187* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
OTOG
(P2116L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
OTOG
(A1826fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 18B
GPathogenic
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