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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOXHD1
(R1572* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 77
+2 more
GPathogenic/Likely pathogenic
LOXHD1
(R670*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
LOXHD1
(R547C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 77
GUncertain significance
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