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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
+4 more
GPathogenic
MYO7A
(A826T +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
(R858H +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+1 more
GConflicting classifications of pathogenicity
MYO7A
(E1065K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
GUncertain significance
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
(L1837P +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(K2005E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO7A
(I2141V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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