Links from MedGen
Items: 7
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr15:78398144-78398147
- GRCh38:
- Chr15:78105802-78105805
| CIB2 | D110fs, D116fs, D159fs, D164fs | Usher syndrome type 1J | Pathogenic
(Feb 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr15:78398271
- GRCh38:
- Chr15:78105929
| CIB2 | N118D, N123D, N69D, N75D | Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J, not provided
| Uncertain significance
(Feb 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:78398222
- GRCh38:
- Chr15:78105880
| CIB2 | R85L, R91L, R134L, R139L | Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J, not provided
| Uncertain significance
(Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:78401612
- GRCh38:
- Chr15:78109270
| CIB2 | R104Q, R55Q, R61Q, R109Q | Usher syndrome type 1J, Autosomal recessive nonsyndromic hearing loss 48, not specified,
not provided | Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:78401614-78401623
- GRCh38:
- Chr15:78109272-78109281
| CIB2 | E105fs, E100fs, E57fs, E51fs | Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 48,
Usher syndrome type 1J | Pathogenic/Likely pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:78403513
- GRCh38:
- Chr15:78111171
| CIB2 | E64D, E21D | Usher syndrome type 1J | Pathogenic
(Nov 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:78401651
- GRCh38:
- Chr15:78109309
| CIB2 | F91S, F96S, F42S, F48S | Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J | Likely pathogenic
(Jan 12, 2022) | criteria provided, single submitter |