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Results: 8

NameGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review statusChrLocation
(GRCh38)
1.
OTCnot providedPathogenic/Likely pathogenicclassified by single submitterX38401291
2.
OTCnot providedPathogenic/Likely pathogenicclassified by single submitterX38369795
3.
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic/Likely pathogenic
(Oct 13, 2006)
classified by multiple submittersX38421050
4.
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic/Likely pathogenic
(Oct 13, 2006)
classified by multiple submittersX38411906
5.
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic/Likely pathogenic
(Oct 13, 2006)
classified by multiple submittersX38369860
6.
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic/Likely pathogenic
(Oct 13, 2006)
classified by multiple submittersX38369815
7.
OTCOrnithine carbamoyltransferase deficiencyPathogenic/Likely pathogenic
(Oct 13, 2006)
classified by single submitter
8.
OTCOrnithine carbamoyltransferase deficiencyPathogenic/Likely pathogenic
(Oct 13, 2006)
classified by single submitter

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