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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH23
(H755Y)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GBenign
CDH23
(E956K)
Single nucleotide variant
(missense variant)
Sensorineural hearing loss disorder
GPathogenic
CDH23
(D990N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
C10orf105, CDH23
(R1161*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
C10orf105, CDH23
(Q1294*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
CDH23
(A1631V)
Single nucleotide variant
(missense variant)
CDH23-Related Disorders
+5 more
GConflicting classifications of pathogenicity
CDH23
(C1717R)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive
GLikely pathogenic
CDH23
Single nucleotide variant
(splice donor variant)
Rare genetic deafness
+1 more
GPathogenic
CDH23
Single nucleotide variant
(intron variant)
Rare genetic deafness
+4 more
GPathogenic
CDH23
(D2028A)
Single nucleotide variant
(missense variant)
Usher syndrome
+1 more
GPathogenic/Likely pathogenic
CDH23
(D2045N)
Single nucleotide variant
(missense variant)
Pituitary adenoma 5, multiple types
GPathogenic
CDH23
(T2068P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDH23
(D2202N)
Single nucleotide variant
(missense variant)
Usher syndrome
+2 more
GPathogenic/Likely pathogenic
CDH23
(N2605S +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC111982869, CDH23
(F2664del +1 more)
Microsatellite
(inframe_deletion)
Pituitary adenoma 5, multiple types
+1 more
GPathogenic/Likely pathogenic
CDH23
(L2785fs +1 more)
Insertion
(frameshift variant)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
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