OTC

Clinically classified variants

270 reference-table entries with clinical significance (first 200 shown).

• rs1800321Benignsingle nucleotide variantORNITHINE TRANSCARBAMYLASE POLYMORPHISM|Ornithine carbamoyltransferase deficiency|History of neurodevelopmental disorder
• rs72554348Benignsingle nucleotide variantOrnithine carbamoyltransferase deficiency|History of neurodevelopmental disorder
• rs67939655Conflicting interpretationssingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs796052013Conflicting interpretationssingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs1064796335Likely pathogenicsingle nucleotide variant
• rs66677059Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs67284661Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554314Likely pathogenicInsertionOrnithine carbamoyltransferase deficiency
• rs72554318Likely pathogenicsingle nucleotide variant
• rs72554320Likely pathogenicsingle nucleotide variant
• rs72554355Likely pathogenicInsertionOrnithine carbamoyltransferase deficiency
• rs72556260Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556277Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558411Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558450Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558465Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558470Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558474Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558495Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs74518351Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs878853245Likely pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs1800324Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs281865552Pathogenicsingle nucleotide variant
• rs281865553Pathogenicsingle nucleotide variant
• rs281865554Pathogenicsingle nucleotide variant
• rs66469337Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66500027Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66512766Pathogenicsingle nucleotide variant
• rs66521141Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66539573Pathogenicsingle nucleotide variant
• rs66550389Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66556380Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66564822Pathogenicsingle nucleotide variant
• rs66626662Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66642398Pathogenicsingle nucleotide variant
• rs66656800Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66693137Pathogenicsingle nucleotide variant
• rs66724222Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66737144Pathogenicsingle nucleotide variant
• rs66741318Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs66867430Pathogenicsingle nucleotide variant
• rs67077695Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs67120076Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs67156896Pathogenicsingle nucleotide variant
• rs67283833Pathogenicsingle nucleotide variant
• rs67294955Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs67294956PathogenicDeletion
• rs67330615Pathogenicsingle nucleotide variant
• rs67333670Pathogenicsingle nucleotide variant
• rs67367843Pathogenicsingle nucleotide variant
• rs67414444Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs67418243Pathogenicsingle nucleotide variant
• rs67468335Pathogenicsingle nucleotide variant
• rs67486158Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs67501347Pathogenicsingle nucleotide variant
• rs67651903Pathogenicsingle nucleotide variant
• rs67752076Pathogenicsingle nucleotide variant
• rs67839036Pathogenicsingle nucleotide variant
• rs67839039PathogenicDeletion
• rs67870245PathogenicDeletion
• rs67890094Pathogenicsingle nucleotide variant
• rs67916658Pathogenicsingle nucleotide variant
• rs67954347Pathogenicsingle nucleotide variant
• rs67960011Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs67993095Pathogenicsingle nucleotide variant
• rs68026851Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs68031618Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs68033093Pathogenicsingle nucleotide variant
• rs68058881Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs68170503Pathogenicsingle nucleotide variant
• rs72552295Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72552296Pathogenicsingle nucleotide variant
• rs72552297PathogenicDeletion
• rs72552298PathogenicDeletion
• rs72552299PathogenicDeletion
• rs72552300Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72552301Pathogenicsingle nucleotide variant
• rs72552302Pathogenicsingle nucleotide variant
• rs72554303Pathogenicsingle nucleotide variant
• rs72554305Pathogenicsingle nucleotide variant
• rs72554306Pathogenicsingle nucleotide variant
• rs72554307Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554308Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554309Pathogenicsingle nucleotide variant
• rs72554310Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554311Pathogenicsingle nucleotide variant
• rs72554312Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554315Pathogenicsingle nucleotide variant
• rs72554316Pathogenicsingle nucleotide variant
• rs72554317Pathogenicsingle nucleotide variant
• rs72554319Pathogenicsingle nucleotide variant
• rs72554321Pathogenicsingle nucleotide variant
• rs72554322Pathogenicsingle nucleotide variant
• rs72554323Pathogenicsingle nucleotide variant
• rs72554325Pathogenicsingle nucleotide variant
• rs72554326Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554327Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554328Pathogenicsingle nucleotide variant
• rs72554329Pathogenicsingle nucleotide variant
• rs72554330Pathogenicsingle nucleotide variant
• rs72554331Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554332Pathogenicsingle nucleotide variant
• rs72554333Pathogenicsingle nucleotide variant
• rs72554334PathogenicDeletion
• rs72554335Pathogenicsingle nucleotide variant
• rs72554336Pathogenicsingle nucleotide variant
• rs72554337Pathogenicsingle nucleotide variant
• rs72554338Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554339Pathogenicsingle nucleotide variant
• rs72554340Pathogenicsingle nucleotide variant
• rs72554341Pathogenicsingle nucleotide variant
• rs72554342Pathogenicsingle nucleotide variant
• rs72554343PathogenicDeletion
• rs72554344Pathogenicsingle nucleotide variant
• rs72554345Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72554346Pathogenicsingle nucleotide variant
• rs72554349Pathogenicsingle nucleotide variant
• rs72554350Pathogenicsingle nucleotide variant
• rs72554351Pathogenicsingle nucleotide variant
• rs72554352Pathogenicsingle nucleotide variant
• rs72554353PathogenicDeletion
• rs72554354PathogenicMicrosatellite
• rs72554357PathogenicDeletion
• rs72554358Pathogenicsingle nucleotide variant
• rs72554359Pathogenicsingle nucleotide variant
• rs72556251PathogenicDuplication
• rs72556252Pathogenicsingle nucleotide variant
• rs72556253Pathogenicsingle nucleotide variant
• rs72556254Pathogenicsingle nucleotide variant
• rs72556255PathogenicDeletionOrnithine carbamoyltransferase deficiency
• rs72556256Pathogenicsingle nucleotide variant
• rs72556257Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556258Pathogenicsingle nucleotide variant
• rs72556259Pathogenicsingle nucleotide variant
• rs72556261Pathogenicsingle nucleotide variant
• rs72556262Pathogenicsingle nucleotide variant
• rs72556263Pathogenicsingle nucleotide variant
• rs72556264PathogenicDeletion
• rs72556265Pathogenicsingle nucleotide variant
• rs72556266Pathogenicsingle nucleotide variant
• rs72556267Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556268Pathogenicsingle nucleotide variant
• rs72556269Pathogenicsingle nucleotide variant
• rs72556270Pathogenicsingle nucleotide variant
• rs72556271Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556272Pathogenicsingle nucleotide variant
• rs72556273Pathogenicsingle nucleotide variant
• rs72556274Pathogenicsingle nucleotide variant
• rs72556275Pathogenicsingle nucleotide variant
• rs72556276Pathogenicsingle nucleotide variant
• rs72556278Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556279Pathogenicsingle nucleotide variant
• rs72556280Pathogenicsingle nucleotide variant
• rs72556281Pathogenicsingle nucleotide variant
• rs72556282Pathogenicsingle nucleotide variant
• rs72556283Pathogenicsingle nucleotide variant
• rs72556284Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556285PathogenicDeletion
• rs72556286Pathogenicsingle nucleotide variant
• rs72556287Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556288Pathogenicsingle nucleotide variant
• rs72556289Pathogenicsingle nucleotide variant
• rs72556290Pathogenicsingle nucleotide variant
• rs72556291Pathogenicsingle nucleotide variant
• rs72556292Pathogenicsingle nucleotide variant
• rs72556293Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556294Pathogenicsingle nucleotide variant
• rs72556295Pathogenicsingle nucleotide variant
• rs72556296Pathogenicsingle nucleotide variant
• rs72556298Pathogenicsingle nucleotide variant
• rs72556299Pathogenicsingle nucleotide variant
• rs72556300Pathogenicsingle nucleotide variant
• rs72556301Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72556302Pathogenicsingle nucleotide variant
• rs72558403Pathogenicsingle nucleotide variant
• rs72558404Pathogenicsingle nucleotide variant
• rs72558405Pathogenicsingle nucleotide variant
• rs72558406Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558407Pathogenicsingle nucleotide variant
• rs72558408Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558409Pathogenicsingle nucleotide variant
• rs72558410Pathogenicsingle nucleotide variant
• rs72558412Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558413Pathogenicsingle nucleotide variant
• rs72558414Pathogenicsingle nucleotide variant
• rs72558415Pathogenicsingle nucleotide variant
• rs72558416Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558417Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558418Pathogenicsingle nucleotide variant
• rs72558420Pathogenicsingle nucleotide variant
• rs72558421Pathogenicsingle nucleotide variant
• rs72558422PathogenicDuplication
• rs72558423Pathogenicsingle nucleotide variantOrnithine carbamoyltransferase deficiency
• rs72558424Pathogenicsingle nucleotide variant
• rs72558425Pathogenicsingle nucleotide variant
• rs72558426Pathogenicsingle nucleotide variant
• rs72558427Pathogenicsingle nucleotide variant
• rs72558428Pathogenicsingle nucleotide variant
• rs72558429Pathogenicsingle nucleotide variant
• rs72558430Pathogenicsingle nucleotide variant

Other listed variants

• rs1554993
• rs4621959
• rs4826994
• rs5917575
• rs5917579
• rs5917584
• rs5917593
• rs5963409
• rs5963418
• rs5963419
• rs6520302
• rs6608762
• rs6609709
• rs7056866
• rs11266207
• rs12557315
• rs41355254
• rs61559874
• rs66851495
• rs67016166

Public references

• NCBI Gene
• Ensembl
• ClinVar