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Links from MedGen

Items: 9

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:35250679
GRCh38:
Chr1:34785078
GJB3R106CErythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, not provided
Conflicting interpretations of pathogenicity
(Aug 4, 2022)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr1:35250704
GRCh38:
Chr1:34785103
GJB3K115fsErythrokeratodermia variabilis et progressiva 1, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A,
not provided
Uncertain significance
(Sep 20, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr1:35250613
GRCh38:
Chr1:34785012
GJB3V84IAutosomal dominant nonsyndromic hearing loss 2B, Erythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A,
not provided, Erythrokeratodermia variabilis et progressiva 1
Benign/Likely benign
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr1:35250862
GRCh38:
Chr1:34785261
GJB3V167Mnot provided, Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A,
Erythrokeratodermia variabilis et progressiva 1
Conflicting interpretations of pathogenicity
(Sep 23, 2022)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr1:35250942
GRCh38:
Chr1:34785341
GJB3Autosomal dominant nonsyndromic hearing loss 2B, Autosomal recessive nonsyndromic hearing loss 1A, Erythrokeratodermia variabilis et progressiva 1,
not specified, not provided, Erythrokeratodermia variabilis et progressiva 1
Benign/Likely benign
(Sep 3, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr1:35250720
GRCh38:
Chr1:34785119
GJB3not specified, not provided, Erythrokeratodermia variabilis et progressiva 1,
Autosomal dominant nonsyndromic hearing loss 2B
Benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:35250943
GRCh38:
Chr1:34785342
GJB3A194TErythrokeratodermia variabilis et progressiva 1, Autosomal recessive nonsyndromic hearing loss 1A, Autosomal dominant nonsyndromic hearing loss 2B,
not provided, Erythrokeratodermia variabilis et progressiva 1
Benign/Likely benign
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:35250901
GRCh38:
Chr1:34785300
GJB3R180*not provided, not specifiedUncertain significance
(Apr 30, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr1:35250910
GRCh38:
Chr1:34785309
GJB3E183Knot specified, not provided, Erythrokeratodermia variabilis et progressiva 1
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
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