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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESPN
(T429I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ESPN
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 36
+2 more
GBenign/Likely benign
ESPN
Microsatellite
(inframe_insertion)
not provided
+3 more
GLikely benign
ESPN
(S660L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 36
+2 more
GUncertain significance
ESPN
Single nucleotide variant
(synonymous variant)
not provided
+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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