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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDH23
(T532M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CDH23
(G1025D)
Single nucleotide variant
(missense variant)
CDH23-related disorder
+5 more
GConflicting classifications of pathogenicity
MYO7A
(H133Y +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GPathogenic/Likely pathogenic
MYO7A
(L190W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
(R206C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO7A
(A313S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO7A
(L395Q +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(R666Q +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
(R830H +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GConflicting classifications of pathogenicity
MYO7A
(R1153W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(Y1161N +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GUncertain significance
MYO7A
(V1501fs +1 more)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MYO7A
(P1676Q +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GUncertain significance
MYO7A
(L1905P +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GUncertain significance
MYO7A
(F1963del +2 more)
Microsatellite
(inframe_deletion)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
MYO7A
(K2021R +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GLikely pathogenic
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