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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(M1606fs +4 more)
Duplication
(frameshift variant)
Usher syndrome type 1F
+1 more
GConflicting classifications of pathogenicity
PCDH15
(Q322* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GPathogenic/Likely pathogenic