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Items: 6

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:20763587
Chr13:20763313
GRCh38:
Chr13:20189448
Chr13:20189174
GJB2Deafness, autosomal recessive 1APathogenic
(May 9, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr13:20763313
GRCh38:
Chr13:20189174
GJB2Deafness, autosomal recessive 1ALikely pathogenic
(Dec 13, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr13:20763150
GRCh38:
Chr13:20189011
GJB2not specifiedConflicting interpretations of pathogenicity
(Oct 17, 2016)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr13:20763353
GRCh38:
Chr13:20189214
GJB2Mutilating keratoderma, Hystrix-like ichthyosis with deafness, not specified,
Keratitis-Ichthyosis-Deafness Syndrome, Nonsyndromic Hearing Loss, Dominant, Nonsyndromic Hearing Loss, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr13:20763587
GRCh38:
Chr13:20189448
GJB2Deafness, autosomal recessive 1A, Keratitis-ichthyosis-deafness syndrome, autosomal dominantPathogenic/Likely pathogenic
(Dec 13, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr13:20763486
GRCh38:
Chr13:20189347
GJB2Deafness, autosomal recessive 1A, Deafness, autosomal dominant 3a, Deafness, digenic, GJB2/GJB3,
Nonsyndromic hearing loss and deafness, not specified, Hearing impairment,
not provided
Pathogenic
(Jun 9, 2017)
criteria provided, multiple submitters, no conflicts
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