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Links from MedGen

Items: 4

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:36872750
GRCh38:
Chr22:36476703
TXN2not provided, Combined oxidative phosphorylation deficiency 29Benign
(Dec 5, 2021)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr22:36872791
GRCh38:
Chr22:36476744
TXN2I126VInborn genetic diseases, Combined oxidative phosphorylation deficiency 29Uncertain significance
(Jan 4, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr22:36872873
GRCh38:
Chr22:36476826
TXN2not provided, Combined oxidative phosphorylation deficiency 29Benign/Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr22:36876814
GRCh38:
Chr22:36480767
TXN2W24*Combined oxidative phosphorylation deficiency 29Pathogenic
(Feb 19, 2016)
no assertion criteria provided
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