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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILDR1
(E305fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1, LOC129937357
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
ILDR1, LOC129937354
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129937357, ILDR1
Duplication
(genic upstream transcript variant)
not provided
GBenign
ILDR1
Copy number loss
not provided
GUncertain significance
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