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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1
(P352L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC127814297, POU4F3
(P125L)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
POU3F4
(Q160*)
Single nucleotide variant
(nonsense)
Autosomal recessive sensorineural hearing loss
GPathogenic
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