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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(Q962H +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
MYO7A
(E1392* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GPathogenic
MYO7A
(A1540V)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
MYO7A
(R2079Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
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