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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILDR1
(Q185* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1
(V99fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic