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Items: 1 to 100 of 169

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH23, CDH23-AS1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
CDH23, CDH23-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CDH23, CDH23-AS1
(V87L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CDH23, CDH23-AS1
(E104K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23, CDH23-AS1
Single nucleotide variant
(synonymous variant)
CDH23-related condition
+1 more
GConflicting classifications of pathogenicity
CDH23-AS1, CDH23
(A129T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CDH23
(E196Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(A207T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CDH23
(R301W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
CDH23
(R301Q)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CDH23
(A366T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
(N434S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH23
(S436N)
Single nucleotide variant
(missense variant)
CDH23-related condition
+4 more
GConflicting classifications of pathogenicity
CDH23
(V475M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CDH23
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
(D502N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
CDH23
(R528H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH23
(T532M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1D
+3 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
CDH23-Related Disorders
+4 more
GConflicting classifications of pathogenicity
CDH23
(A605V)
Single nucleotide variant
(missense variant)
Usher syndrome
+5 more
GConflicting classifications of pathogenicity
CDH23
(T640M)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+4 more
GUncertain significance
CDH23
(V655I)
Single nucleotide variant
(missense variant)
CDH23-Related Disorders
+5 more
GUncertain significance
CDH23
(V661M)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+4 more
GUncertain significance
CDH23
(H755Y)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GBenign
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CDH23
(G811S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(K832Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CDH23
(V858I)
Single nucleotide variant
(missense variant)
CDH23-related condition
+4 more
GConflicting classifications of pathogenicity
CDH23
(A905V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(S944G)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CDH23
(R964W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(R964P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(R964Q)
Single nucleotide variant
(missense variant)
CDH23-related condition
+4 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CDH23
(P997L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CDH23
(V1004M)
Single nucleotide variant
(missense variant)
CDH23-related condition
+2 more
GLikely benign
CDH23
(V1008M)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+5 more
GConflicting classifications of pathogenicity
CDH23
(G1025D)
Single nucleotide variant
(missense variant)
CDH23-related condition
+5 more
GConflicting classifications of pathogenicity
CDH23
(L1058V)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+4 more
GUncertain significance
CDH23
(R1060W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CDH23, C10orf105
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic
CDH23, C10orf105
(I1101V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CDH23, C10orf105
(I1121F)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
C10orf105, CDH23
(T1209A)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
GBenign
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
C10orf105, CDH23
(T1262P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
(V1268M)
Single nucleotide variant
(missense variant +1 more)
CDH23-related condition
+2 more
GUncertain significance
C10orf105, CDH23
(M1280K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C10orf105, CDH23
(N1282S)
Single nucleotide variant
(missense variant +1 more)
Meniere disease
+4 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
(E1306Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
(G1329D)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1D
+4 more
GUncertain significance
C10orf105, CDH23
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
(R1349C)
Single nucleotide variant
(missense variant +1 more)
CDH23-related condition
+4 more
GConflicting classifications of pathogenicity
C10orf105, CDH23
(N1351D)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
C10orf105, CDH23
Single nucleotide variant
(splice donor variant +1 more)
Pituitary adenoma 5, multiple types
+1 more
GPathogenic/Likely pathogenic
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CDH23
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
CDH23-related condition
+4 more
GConflicting classifications of pathogenicity
CDH23
(V1620M)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+4 more
GBenign/Likely benign
CDH23
(R1684C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CDH23
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CDH23
(V1711I)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
CDH23
(Q1716K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH23
(T1743N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CDH23
(R1771Q)
Single nucleotide variant
(missense variant)
Usher syndrome
+4 more
GConflicting classifications of pathogenicity
CDH23
(D1806E)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+4 more
GBenign/Likely benign
CDH23
(R1824C)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
+3 more
GUncertain significance
CDH23
(R1824H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CDH23
(M1835I)
Single nucleotide variant
(missense variant)
Childhood onset hearing loss
+2 more
GConflicting classifications of pathogenicity
CDH23
(R1840W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
CDH23
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CDH23
(N1883H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
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