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Links from Gene

Items: 6

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GATMnot providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000680743
2.
GRCh37:
Chr15:45653460-45664458
GATMnot providedBenign
(Jan 6, 2016)
no assertion criteria providedVCV000614665
3.
GRCh37:
Chr15:45653592-45664458
GATMnot providedBenign
(Jan 8, 2016)
no assertion criteria providedVCV000602135
4.
GRCh37:
Chr15:45658697
GRCh38:
Chr15:45366499
GATMI229V, I100VArginine:glycine amidinotransferase deficiencyUncertain significance
(Mar 5, 2018)
criteria provided, single submitterVCV000548592
5.
GRCh37:
Chr15:45654063-45671785
GATMSee casesUncertain significance
(Jan 20, 2016)
criteria provided, single submitterVCV000253922
6.
GRCh37:
Chr15:45673029
GRCh38:
Chr15:45380831
GATMsimvastatin response - Toxicity/ADR, hmg coa reductase inhibitors response - Toxicity/ADRdrug response
(Jul 11, 2016)
reviewed by expert panelVCV000225951
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