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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESPN
(S312L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 36
+1 more
GUncertain significance
ESPN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ESPN
Single nucleotide variant
(synonymous variant)
ESPN-related condition
+4 more
GBenign/Likely benign
ESPN
(D744N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 36
+2 more
GUncertain significance
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