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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1F
+5 more
GPathogenic
PCDH15
(Q186* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1F
+3 more
GPathogenic/Likely pathogenic
PCDH15
(R134* +2 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
PCDH15
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
Gnot provided
CDH23
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GConflicting classifications of pathogenicity
CDH23, CDH23-AS1
(R90Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CDH23, CDH23-AS1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
CDH23
(P240L)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GPathogenic
CDH23
(A328T)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+4 more
GConflicting classifications of pathogenicity
CDH23
(P402L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CDH23
(D428N)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+2 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(intron variant)
Usher syndrome
GUncertain significance
CDH23
(E616G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GUncertain significance
CDH23
(R736*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CDH23
(H755Y)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GBenign
CDH23
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
CDH23
(D990N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CDH23
(E1006K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+5 more
GPathogenic/Likely pathogenic
CDH23
(V1008M)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
(R1081*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Pituitary adenoma 5, multiple types
+3 more
GPathogenic
C10orf105, CDH23
(E1133K)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1D
+4 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
(D1341N)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+2 more
GPathogenic/Likely pathogenic
C10orf105, CDH23
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GLikely pathogenic
CDH23
(R1437*)
Single nucleotide variant
(nonsense)
Usher syndrome type 1D
+4 more
GPathogenic
CDH23
(I1469V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CDH23
(Q1496H)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+1 more
GPathogenic
CDH23
(T1587fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
CDH23
(T1743N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CDH23
(R1746Q)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+9 more
GPathogenic
CDH23
(R1771*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
CDH23
Single nucleotide variant
(synonymous variant)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
CDH23
Single nucleotide variant
(intron variant)
not provided
+4 more
GPathogenic
CDH23
(Q2113*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CDH23
(D2148N)
Single nucleotide variant
(missense variant)
Usher syndrome type 2A
+6 more
GPathogenic/Likely pathogenic
CDH23
(D2202N)
Single nucleotide variant
(missense variant)
Usher syndrome
+2 more
GPathogenic/Likely pathogenic
CDH23
(P2323fs +1 more)
Deletion
(frameshift variant)
Rare genetic deafness
+1 more
GPathogenic
CDH23
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CDH23
(R2489H +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CDH23
(R329Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+1 more
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GPathogenic
CDH23, LOC111982869
(F2664del +1 more)
Microsatellite
(inframe_deletion)
Pituitary adenoma 5, multiple types
+1 more
GPathogenic/Likely pathogenic
CDH23
(R2935* +1 more)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+2 more
GPathogenic
CDH23
(R856fs +1 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CDH23
(R3175H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+5 more
GConflicting classifications of pathogenicity
CDH23
(R3189Q +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
CDH23
(I107fs +2 more)
Deletion
(frameshift variant)
Pituitary adenoma 5, multiple types
+2 more
GPathogenic
CDH23
(S1003fs +2 more)
Deletion
(frameshift variant +1 more)
not specified
+4 more
GUncertain significance
CDH23
(E3302K +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CDH23
(E1049K +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 12
+3 more
GUncertain significance
USH1C
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
+3 more
GPathogenic/Likely pathogenic
USH1C
(Q723*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
USH1C
Single nucleotide variant
(intron variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
USH1C
Deletion
(splice acceptor variant)
not provided
GPathogenic
USH1C
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
USH1C
(G104D)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
USH1C
(R103H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
USH1C
(R80fs)
Duplication
(frameshift variant +1 more)
Usher syndrome
+6 more
GPathogenic
USH1C
Single nucleotide variant
(synonymous variant +1 more)
Rare genetic deafness
+5 more
GPathogenic
USH1C
(R31*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic
MYO7A
(N351fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Q379* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
+4 more
GPathogenic
MYO7A
(N775fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(A826T +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
(M935R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MYO7A
(S1187I +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(K1244fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
+4 more
GPathogenic/Likely pathogenic
MYO7A
(L1282fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
MYO7A
(V1643I +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GUncertain significance
MYO7A
(L1837P +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(G1942* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
+3 more
GPathogenic/Likely pathogenic
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