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Items: 5

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr9:97380119
GRCh38:
Chr9:94617837
FBP1D119Enot providedLikely pathogenic
(Jun 1, 2018)
criteria provided, single submitterVCV000624361
2.
GRCh37:
Chr9:97365714
GRCh38:
Chr9:94603432
FBP1D323fsFructose-biphosphatase deficiencyUncertain significance
(Mar 5, 2018)
criteria provided, single submitterVCV000548499
3.
GRCh37:
Chr9:97365839
GRCh38:
Chr9:94603557
FBP1E281*Fructose-biphosphatase deficiencyPathogenic
(Mar 5, 2018)
criteria provided, single submitterVCV000548480
4.
GRCh37:
Chr9:97367835-97367844
GRCh38:
Chr9:94605553-94605562
FBP1Y241fsFructose-biphosphatase deficiencyPathogenic
(Mar 27, 2017)
criteria provided, single submitterVCV000403701
5.
GRCh37:
Chr9:97372172
GRCh38:
Chr9:94609890
FBP1not specifiedBenigncriteria provided, single submitterVCV000256321
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