U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIB2
(D110fs +3 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1J
GPathogenic
CIB2
(N118D +3 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 48
+2 more
GUncertain significance
CIB2
(R85L +3 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1J
+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)
Autosomal recessive nonsyndromic hearing loss 48
+3 more
GPathogenic/Likely pathogenic
CIB2
(E64D +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1J
GPathogenic
CIB2
(F91S +3 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 48
+1 more
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination