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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A
(D656N)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
USH2A
(Q4676R)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity