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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOXHD1
(T2001P +4 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 77
GUncertain significance
LOXHD1
Single nucleotide variant
(splice donor variant)
Hearing loss, autosomal recessive
+3 more
GPathogenic/Likely pathogenic
LOXHD1
(K148*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
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