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Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:145522734
GRCh38:
Chr1:145912346
PEX11BR199*, R185*Peroxisome biogenesis disorder 14BPathogenic
(Jun 26, 2016)
criteria provided, single submitterVCV000453307
2.
GRCh37:
Chr1:145518175
GRCh38:
Chr1:145916914
PEX11BR93*, R79*Peroxisome biogenesis disorder 14B, not providedPathogenic/Likely pathogenic
(Sep 18, 2017)
criteria provided, multiple submitters, no conflictsVCV000453306
3.
GRCh37:
Chr1:145517280
GRCh38:
Chr1:145917809
PEX11BQ22*, Q8*Peroxisome biogenesis disorder 14BPathogenic
(May 1, 2012)
no assertion criteria providedVCV000039723
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