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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+5 more
GPathogenic
PCDH15
(E110fs +2 more)
Duplication
(frameshift variant)
Usher syndrome type 1G
Gnot provided
USH1G
(S175fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1G
GPathogenic
USH1G
(V29fs +1 more)
Duplication
(frameshift variant)
Usher syndrome type 1G
GPathogenic
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