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Links from MedGen

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLRN2
(R79L)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive 117
GUncertain significance
CLRN2
(T165K)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive 117
GPathogenic