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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILDR1
(R409Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 42
+1 more
GConflicting classifications of pathogenicity
ILDR1
(E305fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 42
GPathogenic
ILDR1
(Q258* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ILDR1
(Q195*)
Single nucleotide variant
(nonsense +1 more)
Rare genetic deafness
+1 more
GPathogenic
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