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Links from MedGen

Items: 1 to 100 of 636

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH23
(I271F)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23, CDH23-AS1
(D94H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(L369P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
ATP2B2
(G789D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
ATP2B2
(G243R)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 82
+1 more
Gnot provided
ATP2B2
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
CDH23
(P2609L +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
(D82V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
(L2571P +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(R553W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH23
(D2064G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(D916N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GConflicting classifications of pathogenicity
CDH23
(L1026fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 12
GPathogenic
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(G185S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(V2127F)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
(N1667K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23, CDH23-AS1
(E96V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(A361S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(V2331A +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
(R269W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CDH23, VSIR
(S280L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 12
+4 more
GBenign/Likely benign
CDH23
(D160fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
(R955C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CDH23
(P3059T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CDH23
(V948F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CDH23
(I2178N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH23, C10orf105
Single nucleotide variant
(splice donor variant +1 more)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GPathogenic/Likely pathogenic
CDH23
(V473I)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+3 more
GUncertain significance
CDH23
(I2027T)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+3 more
GUncertain significance
CDH23, LOC111982869
(V2648M +1 more)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+3 more
GUncertain significance
C10orf105, CDH23
(R1099Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Pituitary adenoma 5, multiple types
+3 more
GUncertain significance
CDH23
(I2108T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GUncertain significance
C10orf105, CDH23
(V1198A)
Single nucleotide variant
(missense variant +1 more)
Pituitary adenoma 5, multiple types
+3 more
GUncertain significance
CDH23
(D1951V)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+3 more
GUncertain significance
CDH23
Deletion
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GPathogenic/Likely pathogenic
CDH23
(D2714Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
(E1071K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(A1586P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(E2575K +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CDH23, CDH23-AS1
(R76H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CDH23
(R3186Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CDH23
(T2016I)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(N3197del +2 more)
Microsatellite
(inframe_deletion)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(G811D)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(P1429R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CDH23
(Q202P)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+1 more
GUncertain significance
C10orf105, CDH23
(G1395S)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(V3180F +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+2 more
GUncertain significance
CDH23
(D556N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GUncertain significance
CDH23
(I1985F)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(R928C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+2 more
GUncertain significance
CDH23
(E1038K +4 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+2 more
GUncertain significance
CDH23
(S282N)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(G1677D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(G945S)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+2 more
GUncertain significance
CDH23
(A25T +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(R1555G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GUncertain significance
CDH23
(G2908R +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(V2242E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(G2854W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(F2928V +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(V1998M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(D1486A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
C10orf105, CDH23
(E1324D)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(L986fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
C10orf105, CDH23
(L1124R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(G2123E)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
(N1628K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23, CDH23-AS1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 12
GPathogenic
LOC111982869, CDH23
(G2671D +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
GUncertain significance
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
GLikely pathogenic
CDH23
(E956G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GLikely pathogenic
CDH23
(N1521S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
C10orf105, CDH23
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
C10orf105, CDH23
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CDH23, C10orf105
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CDH23
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CDH23
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GBenign
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GBenign
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
+2 more
GBenign
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GBenign/Likely benign
CDH23
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
CDH23
(V2281I +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CDH23-AS1, CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GBenign/Likely benign
CDH23
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDH23
(P27fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
CDH23
(G291R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
CDH23
(R225W +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+1 more
GUncertain significance
CDH23
(E2185D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GPathogenic
CDH23
(D987N)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+3 more
GConflicting classifications of pathogenicity
CDH23
(G1705S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH23, CDH23-AS1
(D124G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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