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Links from MedGen

Items: 1 to 100 of 389

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOF
(K1102R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(S220T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
LOC129933334, OTOF
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(Q1346del +2 more)
Microsatellite
(inframe_deletion)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(H513R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(R1188H +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
OTOF
(R1583H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(R1155Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
+2 more
GConflicting classifications of pathogenicity
OTOF
(R656fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
OTOF
(D376N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(T1006S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(R652W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOF
(V196fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(Y1064* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GPathogenic
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(R945* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
LOC112840921, OTOF
(I1724fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(Q48H)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(K1374fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(W478R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(Q255P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(L1198fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(S1225C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(I1178fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Deletion
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(V1498E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(H1629fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(D1475N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GUncertain significance
OTOF
(P1552L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(K1278R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GUncertain significance
OTOF
(R566W)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(E1062fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(A21V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GBenign
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GBenign
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GBenign
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GBenign
OTOF
(G1479S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
OTOF
(P1628T +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF, LOC112840921
Indel
(inframe_indel)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(P655fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(G1020D +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(Y455fs)
Indel
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(I1048del +2 more)
Microsatellite
(inframe_deletion)
Auditory neuropathy
GLikely pathogenic
OTOF
(G1090D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OTOF
(E1017* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
OTOF
(N1162H +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OTOF, LOC112840921
Insertion
(inframe_insertion)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF, LOC112840921
(R1013L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(D1087V +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(A224fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
Duplication
(inframe_insertion)
Auditory neuropathy
GLikely pathogenic
OTOF
Duplication
(splice donor variant)
Auditory neuropathy
GLikely pathogenic
OTOF, LOC112840921
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(C248* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Deletion
(splice acceptor variant)
not provided
GLikely pathogenic
OTOF
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(P1005A +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
LOC112840921, OTOF
(R1037fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 9
GLikely pathogenic
OTOF
(E1163* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
Single nucleotide variant
(stop lost +1 more)
Autosomal recessive nonsyndromic hearing loss 9
GPathogenic
OTOF
(E165V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
OTOF
(V497M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
OTOF
(F125S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OTOF
(H1221R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(R1249Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
LOC112840921, OTOF
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
OTOF-related condition
+2 more
GConflicting classifications of pathogenicity
OTOF
(M244T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(G677R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(G917D +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(E709K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
(D982Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
(A1035V +2 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
OTOF
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
(S367L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
(V373M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 9
+1 more
GConflicting classifications of pathogenicity
OTOF
(V1459M +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OTOF
(D1503E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 9
GUncertain significance
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