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Links from MedGen

Items: 9

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:8285455
GRCh38:
Chr17:8382137
RPL26Diamond-Blackfan anemia 11Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr17:8285444
GRCh38:
Chr17:8382126
RPL26Diamond-Blackfan anemia, Diamond-Blackfan anemia 11Benign/Likely benign
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr17:8280979
GRCh38:
Chr17:8377661
RPL26D114fsDiamond-Blackfan anemia 11not providedno assertion provided
4.
GRCh37:
Chr17:8280993
GRCh38:
Chr17:8377675
RPL26Diamond-Blackfan anemia 11, Diamond-Blackfan anemiaBenign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr17:8280943
GRCh38:
Chr17:8377625
RPL26R126Hnot specified, Diamond-Blackfan anemia 11, Diamond-Blackfan anemia
Uncertain significance
(Apr 29, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:8280978
GRCh38:
Chr17:8377660
RPL26Diamond-Blackfan anemia 11, Diamond-Blackfan anemiaLikely benign
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:8285648-8285649
GRCh38:
Chr17:8382330-8382331
RPL26Diamond-Blackfan anemia 11, not specifiedBenign/Likely benign
(Jul 20, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:8285533
GRCh38:
Chr17:8382215
RPL26Diamond-Blackfan anemia, Diamond-Blackfan anemia 11Benign/Likely benign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr17:8285508-8285509
GRCh38:
Chr17:8382190-8382191
RPL26K41fsDiamond-Blackfan anemia 11Pathogenic
(Jul 1, 2012)
no assertion criteria provided
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