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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(I134N +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely pathogenic
MYO7A
(L326Q +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely pathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
MYO7A-Related Disorders
GUncertain significance
MYO7A
(A826T +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GUncertain significance
MYO7A
(R1240Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+8 more
GPathogenic
MYO7A
(Q1369* +1 more)
Single nucleotide variant
(nonsense)
MYO7A-Related Disorders
GUncertain significance
MYO7A
(A1703V +2 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+5 more
GConflicting classifications of pathogenicity
MYO7A
(E1812K +2 more)
Single nucleotide variant
(missense variant)
MYO7A-Related Disorders
+1 more
GPathogenic/Likely pathogenic
MYO7A
(L1858P +2 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+6 more
GPathogenic/Likely pathogenic
MYO7A
(G1942* +2 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
MYO7A
(R1967* +2 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GPathogenic/Likely pathogenic
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