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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOXHD1
(G1849R +4 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOXHD1
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 77
GLikely pathogenic
LOXHD1
(F110fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 77
GLikely pathogenic
LOXHD1
(E955*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 77
GPathogenic
LOXHD1
(E948fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 77
GLikely pathogenic
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