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Items: 9

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:24122673
GRCh38:
Chr1:23796183
GALEUDPglucose-4-epimerase deficiency, not providedPathogenic, other
(Sep 12, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr1:24122724
GRCh38:
Chr1:23796234
GALEUDPglucose-4-epimerase deficiencyPathogenic
(Jan 25, 2011)
no assertion criteria provided
3.
GRCh37:
Chr1:24123212
GRCh38:
Chr1:23796722
GALEUDPglucose-4-epimerase deficiency, not specified, not provided
Conflicting interpretations of pathogenicity, other
(Feb 1, 2018)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr1:24123267
GRCh38:
Chr1:23796777
GALEUDPglucose-4-epimerase deficiencyPathogenic/Likely pathogenic
(Mar 18, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:24123618
GRCh38:
Chr1:23797128
GALEUDPglucose-4-epimerase deficiencyPathogenic
(Jan 25, 2011)
no assertion criteria provided
6.
GRCh37:
Chr1:24124208
GRCh38:
Chr1:23797718
GALEUDPglucose-4-epimerase deficiencyPathogenic
(Jun 11, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr1:24124678
GRCh38:
Chr1:23798188
GALEUDPglucose-4-epimerase deficiency, Galactose epimerase deficiency, severePathogenic/Likely pathogenic
(May 1, 2017)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr1:24124689
GRCh38:
Chr1:23798199
GALEUDPglucose-4-epimerase deficiencyPathogenic
(Jan 25, 2011)
no assertion criteria provided
9.
GRCh37:
Chr1:24125397
GRCh38:
Chr1:23798907
GALEUDPglucose-4-epimerase deficiencyPathogenic
(Apr 30, 2014)
criteria provided, single submitter
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