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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CABP2
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 93
+2 more
GPathogenic/Likely pathogenic
CABP2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CABP2
(R76Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CABP2
(P72Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
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