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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIB2
(R85L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CIB2
(N118D +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CIB2
(R104Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1J
+3 more
GConflicting classifications of pathogenicity
CIB2
(E105fs +3 more)
Deletion
(frameshift variant +1 more)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
CIB2
(F91S +3 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1J
+1 more
GLikely pathogenic
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