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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRTOMT, TOMT
(R58* +1 more)
Single nucleotide variant
(nonsense +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GConflicting classifications of pathogenicity
LRTOMT, TOMT
(L27P +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 63
GUncertain significance
LRTOMT, TOMT
+1 more
(S167fs +2 more)
Duplication
(frameshift variant +3 more)
Autosomal recessive nonsyndromic hearing loss 63
+1 more
GPathogenic
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