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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILDR1
(R462* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 42
+1 more
GPathogenic/Likely pathogenic
ILDR1
(Q258* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ILDR1
(P69H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
GLikely pathogenic
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