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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBCEL-TECTA, TECTA
(T1866M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 21
+5 more
GConflicting classifications of pathogenicity
MT-TL1
Single nucleotide variant
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
+12 more
GPathogenic/Likely pathogenic