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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESPN
(K476Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 36
+1 more
GUncertain significance
ESPN
(K818del +2 more)
Microsatellite
(inframe_deletion)
Autosomal recessive nonsyndromic hearing loss 36
GLikely pathogenic