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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILDR1
(P345L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ILDR1
(R431C +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ILDR1
(L306S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ILDR1
(W388R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
+2 more
GBenign
ILDR1
(S249fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 42
+2 more
GPathogenic/Likely pathogenic
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