OTC[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 436

<< First< Prev

Page of 5

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 4874801.	NM_000531.5(OTC):c.-157T>G GRCh37: ChrX:38211793 GRCh38: ChrX:38352540	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 12, 2017)	no assertion criteria provided
Select item 4873422.	NM_000531.5(OTC):c.-142G>A GRCh37: ChrX:38211808 GRCh38: ChrX:38352555	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 4873413.	NM_000531.5(OTC):c.-139A>G GRCh37: ChrX:38211811 GRCh38: ChrX:38352558	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 12, 2017)	no assertion criteria provided
Select item 4873434.	NM_000531.5(OTC):c.-116C>T GRCh37: ChrX:38211834 GRCh38: ChrX:38352581	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 12, 2017)	no assertion criteria provided
Select item 4873445.	NM_000531.5(OTC):c.-115C>T GRCh37: ChrX:38211835 GRCh38: ChrX:38352582	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 12, 2017)	no assertion criteria provided
Select item 971316.	NM_000531.6(OTC):c.1A>T (p.Met1Leu) GRCh37: ChrX:38211950 GRCh38: ChrX:38352697	OTC	M1L	not provided	Pathogenic	no assertion criteria provided
Select item 971307.	NM_000531.6(OTC):c.1A>G (p.Met1Val) GRCh37: ChrX:38211950 GRCh38: ChrX:38352697	OTC	M1V	not provided	Pathogenic	no assertion criteria provided
Select item 971648.	NM_000531.6(OTC):c.2T>C (p.Met1Thr) GRCh37: ChrX:38211951 GRCh38: ChrX:38352698	OTC	M1T	Ornithine carbamoyltransferase deficiency	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 971899.	NM_000531.6(OTC):c.3G>A (p.Met1Ile) GRCh37: ChrX:38211952 GRCh38: ChrX:38352699	OTC	M1I	Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 9715710.	NM_000531.6(OTC):c.29_32del (p.Asn10fs) GRCh37: ChrX:38211976-38211979 GRCh38: ChrX:38352723-38352726	OTC	N10fs	Ornithine carbamoyltransferase deficiency	Pathogenic (Dec 27, 2021)	criteria provided, single submitter
Select item 9719411.	NM_000531.6(OTC):c.42del (p.Phe14fs) GRCh37: ChrX:38211988 GRCh38: ChrX:38352735	OTC	F14fs	not provided	Pathogenic	no assertion criteria provided
Select item 172698312.	NM_000531.6(OTC):c.50_53del (p.Gly17fs) GRCh37: ChrX:38211999-38212002 GRCh38: ChrX:38352746-38352749	OTC	G17fs	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Jan 6, 2022)	criteria provided, single submitter
Select item 9723913.	NM_000531.6(OTC):c.53del (p.His18fs) GRCh37: ChrX:38212002 GRCh38: ChrX:38352749	OTC	H18fs	not provided	Pathogenic	no assertion criteria provided
Select item 9729214.	NM_000531.6(OTC):c.67C>T (p.Arg23Ter) GRCh37: ChrX:38212016 GRCh38: ChrX:38352763	OTC	R23*	Ornithine carbamoyltransferase deficiency	Pathogenic (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21729915.	NM_000531.6(OTC):c.72_77+18del GRCh37: ChrX:38212020-38212043 GRCh38: ChrX:38352767-38352790	OTC		Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 6, 2015)	no assertion criteria provided
Select item 168539016.	NM_000531.6(OTC):c.77G>T (p.Arg26Leu) GRCh37: ChrX:38212026 GRCh38: ChrX:38352773	OTC	R26L	Ornithine carbamoyltransferase deficiency	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 9731917.	NM_000531.6(OTC):c.77G>C (p.Arg26Pro) GRCh37: ChrX:38212026 GRCh38: ChrX:38352773	OTC	R26P	not provided	Pathogenic	no assertion criteria provided
Select item 1099318.	NM_000531.6(OTC):c.77G>A (p.Arg26Gln) GRCh37: ChrX:38212026 GRCh38: ChrX:38352773	OTC	R26Q	Inborn genetic diseases, Ornithine carbamoyltransferase deficiency	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56729319.	NM_000531.6(OTC):c.77+2dup GRCh37: ChrX:38212027-38212028 GRCh38: ChrX:38352774-38352775	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 9731520.	NM_000531.6(OTC):c.77+3_77+6del GRCh37: ChrX:38212027-38212030 GRCh38: ChrX:38352774-38352777	OTC		not provided	Pathogenic	no assertion criteria provided
Select item 9731421.	NM_000531.6(OTC):c.77+1G>T GRCh37: ChrX:38212027 GRCh38: ChrX:38352774	OTC		not provided	Pathogenic	no assertion criteria provided
Select item 9731322.	NM_000531.6(OTC):c.77+1G>A GRCh37: ChrX:38212027 GRCh38: ChrX:38352774	OTC		Ornithine carbamoyltransferase deficiency	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 9731623.	NM_000531.6(OTC):c.77+4A>C GRCh37: ChrX:38212030 GRCh38: ChrX:38352777	OTC		not provided	Pathogenic	no assertion criteria provided
Select item 87032524.	NM_000531.6(OTC):c.77+5G>C GRCh37: ChrX:38212031 GRCh38: ChrX:38352778	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 9732125.	NM_000531.6(OTC):c.78-3C>G GRCh37: ChrX:38226541 GRCh38: ChrX:38367288	OTC		not provided	Pathogenic	no assertion criteria provided
Select item 146957426.	NM_000531.6(OTC):c.78-1G>T GRCh37: ChrX:38226543 GRCh38: ChrX:38367290	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 9732027.	NM_000531.6(OTC):c.78-1G>C GRCh37: ChrX:38226543 GRCh38: ChrX:38367290	OTC		not provided	Pathogenic	no assertion criteria provided
Select item 9736928.	NM_000531.6(OTC):c.94C>T (p.Gln32Ter) GRCh37: ChrX:38226560 GRCh38: ChrX:38367307	OTC	Q32*	not provided	Pathogenic	no assertion criteria provided
Select item 9710529.	NM_000531.6(OTC):c.106C>T (p.Gln36Ter) GRCh37: ChrX:38226572 GRCh38: ChrX:38367319	OTC	Q36*	not provided	Pathogenic	no assertion criteria provided
Select item 9710630.	NM_000531.6(OTC):c.115G>T (p.Gly39Cys) GRCh37: ChrX:38226581 GRCh38: ChrX:38367328	OTC	G39C	not provided	Pathogenic	no assertion criteria provided
Select item 91546931.	NM_000531.6(OTC):c.116G>C (p.Gly39Ala) GRCh37: ChrX:38226582 GRCh38: ChrX:38367329	OTC	G39A	Ornithine carbamoyltransferase deficiency	Pathogenic	no assertion criteria provided
Select item 1101332.	NM_000531.6(OTC):c.118C>T (p.Arg40Cys) GRCh37: ChrX:38226584 GRCh38: ChrX:38367331	OTC	R40C	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic/Likely pathogenic (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1101433.	NM_000531.6(OTC):c.119G>A (p.Arg40His) GRCh37: ChrX:38226585 GRCh38: ChrX:38367332	OTC	R40H	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9710734.	NM_000531.6(OTC):c.122A>G (p.Asp41Gly) GRCh37: ChrX:38226588 GRCh38: ChrX:38367335	OTC	D41G	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 9710835.	NM_000531.6(OTC):c.127C>T (p.Leu43Phe) GRCh37: ChrX:38226593 GRCh38: ChrX:38367340	OTC	L43F	not provided	Pathogenic	no assertion criteria provided
Select item 93323036.	NM_000531.6(OTC):c.128T>C (p.Leu43Pro) GRCh37: ChrX:38226594 GRCh38: ChrX:38367341	OTC	L43P	Ornithine carbamoyltransferase deficiency	Pathogenic	no assertion criteria provided
Select item 9710937.	NM_000531.6(OTC):c.131C>T (p.Thr44Ile) GRCh37: ChrX:38226597 GRCh38: ChrX:38367344	OTC	T44I	Ornithine carbamoyltransferase deficiency	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 9711038.	NM_000531.6(OTC):c.133C>G (p.Leu45Val) GRCh37: ChrX:38226599 GRCh38: ChrX:38367346	OTC	L45V	not provided	Pathogenic	no assertion criteria provided
Select item 212893239.	NM_000531.6(OTC):c.134T>G (p.Leu45Arg) GRCh37: ChrX:38226600 GRCh38: ChrX:38367347	OTC	L45R	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 1099240.	NM_000531.6(OTC):c.134T>C (p.Leu45Pro) GRCh37: ChrX:38226600 GRCh38: ChrX:38367347	OTC	L45P	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Jan 26, 2017)	no assertion criteria provided
Select item 9711141.	NM_000531.6(OTC):c.140del (p.Asn47fs) GRCh37: ChrX:38226601 GRCh38: ChrX:38367348	OTC	N47fs	Ornithine carbamoyltransferase deficiency	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 9711442.	NM_000531.6(OTC):c.140_141insG (p.Asn47fs) GRCh37: ChrX:38226606-38226607 GRCh38: ChrX:38367353-38367354	OTC	N47fs	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Sep 14, 2020)	criteria provided, single submitter
Select item 9711343.	NM_000531.6(OTC):c.140A>T (p.Asn47Ile) GRCh37: ChrX:38226606 GRCh38: ChrX:38367353	OTC	N47I	Ornithine carbamoyltransferase deficiency	Pathogenic (Dec 11, 2021)	criteria provided, single submitter
Select item 91607044.	NM_000531.6(OTC):c.143_144del (p.Phe48fs) GRCh37: ChrX:38226608-38226609 GRCh38: ChrX:38367355-38367356	OTC	F48fs	not provided	Likely pathogenic (Apr 15, 2019)	criteria provided, single submitter
Select item 9711545.	NM_000531.6(OTC):c.143T>C (p.Phe48Ser) GRCh37: ChrX:38226609 GRCh38: ChrX:38367356	OTC	F48S	not provided	Pathogenic	no assertion criteria provided
Select item 9711646.	NM_000531.6(OTC):c.145A>C (p.Thr49Pro) GRCh37: ChrX:38226611 GRCh38: ChrX:38367358	OTC	T49P	not provided	Pathogenic	no assertion criteria provided
Select item 1100247.	NM_000531.6(OTC):c.148G>T (p.Gly50Ter) GRCh37: ChrX:38226614 GRCh38: ChrX:38367361	OTC	G50*	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 1, 1992)	no assertion criteria provided
Select item 9711948.	NM_000531.6(OTC):c.154G>T (p.Glu52Ter) GRCh37: ChrX:38226620 GRCh38: ChrX:38367367	OTC	E52*	Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 9711849.	NM_000531.6(OTC):c.154G>A (p.Glu52Lys) GRCh37: ChrX:38226620 GRCh38: ChrX:38367367	OTC	E52K	Ornithine carbamoyltransferase deficiency	Pathogenic (Oct 2, 2018)	criteria provided, single submitter
Select item 9712050.	NM_000531.6(OTC):c.155A>G (p.Glu52Gly) GRCh37: ChrX:38226621 GRCh38: ChrX:38367368	OTC	E52G	not provided	Pathogenic	no assertion criteria provided
Select item 9712151.	NM_000531.6(OTC):c.156A>T (p.Glu52Asp) GRCh37: ChrX:38226622 GRCh38: ChrX:38367369	OTC	E52D	not provided	Likely pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 9712352.	NM_000531.6(OTC):c.158T>G (p.Ile53Ser) GRCh37: ChrX:38226624 GRCh38: ChrX:38367371	OTC	I53S	not provided	Pathogenic	no assertion criteria provided
Select item 9712253.	NM_000531.6(OTC):c.158T>C (p.Ile53Thr) GRCh37: ChrX:38226624 GRCh38: ChrX:38367371	OTC	I53T	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 9712454.	NM_000531.6(OTC):c.163T>G (p.Tyr55Asp) GRCh37: ChrX:38226629 GRCh38: ChrX:38367376	OTC	Y55D	not provided	Pathogenic	no assertion criteria provided
Select item 9712555.	NM_000531.6(OTC):c.167T>C (p.Met56Thr) GRCh37: ChrX:38226633 GRCh38: ChrX:38367380	OTC	M56T	not specified	Likely pathogenic (Feb 2, 2017)	criteria provided, single submitter
Select item 9712656.	NM_000531.6(OTC):c.170T>A (p.Leu57Gln) GRCh37: ChrX:38226636 GRCh38: ChrX:38367383	OTC	L57Q	not provided	Pathogenic	no assertion criteria provided
Select item 9712757.	NM_000531.6(OTC):c.174G>A (p.Trp58Ter) GRCh37: ChrX:38226640 GRCh38: ChrX:38367387	OTC	W58*	Ornithine carbamoyltransferase deficiency	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 96426258.	NM_000531.6(OTC):c.177dup (p.Ser60fs) GRCh37: ChrX:38226642-38226643 GRCh38: ChrX:38367389-38367390	OTC	S60fs	Ornithine carbamoyltransferase deficiency	Pathogenic (Nov 6, 2019)	criteria provided, single submitter
Select item 178032859.	NM_000531.6(OTC):c.179C>G (p.Ser60Ter) GRCh37: ChrX:38226645 GRCh38: ChrX:38367392	OTC	S60*	Inborn genetic diseases	Pathogenic (Nov 10, 2017)	criteria provided, single submitter
Select item 172439760.	NM_000531.6(OTC):c.179C>A (p.Ser60Ter) GRCh37: ChrX:38226645 GRCh38: ChrX:38367392	OTC	S60*	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 9712861.	NM_000531.6(OTC):c.179C>T (p.Ser60Leu) GRCh37: ChrX:38226645 GRCh38: ChrX:38367392	OTC	S60L	not provided	Pathogenic	no assertion criteria provided
Select item 9713262.	NM_000531.6(OTC):c.200T>G (p.Ile67Arg) GRCh37: ChrX:38226666 GRCh38: ChrX:38367413	OTC	I67R	not provided	Pathogenic	no assertion criteria provided
Select item 9713363.	NM_000531.6(OTC):c.205C>T (p.Gln69Ter) GRCh37: ChrX:38226671 GRCh38: ChrX:38367418	OTC	Q69*	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172626664.	NM_000531.6(OTC):c.208A>T (p.Lys70Ter) GRCh37: ChrX:38226674 GRCh38: ChrX:38367421	OTC	K70*	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 87032465.	NM_000531.6(OTC):c.214G>A (p.Glu72Lys) GRCh37: ChrX:38226680 GRCh38: ChrX:38367427	OTC	E72K	Ornithine carbamoyltransferase deficiency	Pathogenic	no assertion criteria provided
Select item 28029566.	NM_000531.6(OTC):c.216+1del GRCh37: ChrX:38226682 GRCh38: ChrX:38367429	OTC		not provided	Pathogenic (Jan 15, 2016)	criteria provided, single submitter
Select item 9713567.	NM_000531.6(OTC):c.216+1G>T GRCh37: ChrX:38226683 GRCh38: ChrX:38367430	OTC		not provided	Pathogenic	no assertion criteria provided
Select item 9713468.	NM_000531.6(OTC):c.216+1G>A GRCh37: ChrX:38226683 GRCh38: ChrX:38367430	OTC		Ornithine carbamoyltransferase deficiency	Pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 20386969.	NM_000531.6(OTC):c.217-2dup GRCh37: ChrX:38229046-38229047 GRCh38: ChrX:38369793-38369794	OTC		not provided	Pathogenic (Nov 13, 2013)	criteria provided, single submitter
Select item 91547070.	NM_000531.6(OTC):c.217-2A>G GRCh37: ChrX:38229047 GRCh38: ChrX:38369794	OTC		Ornithine carbamoyltransferase deficiency	Pathogenic	no assertion criteria provided
Select item 9713671.	NM_000531.6(OTC):c.217-1G>A GRCh37: ChrX:38229048 GRCh38: ChrX:38369795	OTC		not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Feb 1, 2002)	no assertion criteria provided
Select item 9713772.	NM_000531.6(OTC):c.227T>C (p.Leu76Ser) GRCh37: ChrX:38229059 GRCh38: ChrX:38369806	OTC	L76S	not provided	Pathogenic	no assertion criteria provided
Select item 49689673.	NM_000531.6(OTC):c.228A>C (p.Leu76Phe) GRCh37: ChrX:38229060 GRCh38: ChrX:38369807	OTC	L76F	not provided	Likely pathogenic (Mar 15, 2017)	criteria provided, single submitter
Select item 9713874.	NM_000531.6(OTC):c.231G>T (p.Leu77Phe) GRCh37: ChrX:38229063 GRCh38: ChrX:38369810	OTC	L77F	Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 9713975.	NM_000531.6(OTC):c.232C>T (p.Gln78Ter) GRCh37: ChrX:38229064 GRCh38: ChrX:38369811	OTC	Q78*	not provided	Pathogenic	no assertion criteria provided
Select item 1100676.	NM_000531.6(OTC):c.236G>A (p.Gly79Glu) GRCh37: ChrX:38229068 GRCh38: ChrX:38369815	OTC	G79E	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Feb 1, 2002)	no assertion criteria provided
Select item 9321977.	NM_000531.6(OTC):c.238A>G (p.Lys80Glu) GRCh37: ChrX:38229070 GRCh38: ChrX:38369817	OTC	K80E	not provided	Pathogenic (Nov 5, 2012)	criteria provided, single submitter
Select item 9714078.	NM_000531.6(OTC):c.240G>T (p.Lys80Asn) GRCh37: ChrX:38229072 GRCh38: ChrX:38369819	OTC	K80N	not provided	Pathogenic	no assertion criteria provided
Select item 9714179.	NM_000531.6(OTC):c.243_245del (p.Leu82del) GRCh37: ChrX:38229075-38229077 GRCh38: ChrX:38369822-38369824	OTC	L82del	not provided	Pathogenic	no assertion criteria provided
Select item 9714280.	NM_000531.6(OTC):c.245T>G (p.Leu82Ter) GRCh37: ChrX:38229077 GRCh38: ChrX:38369824	OTC	L82*	not provided	Pathogenic	no assertion criteria provided
Select item 9714381.	NM_000531.6(OTC):c.247G>C (p.Gly83Arg) GRCh37: ChrX:38229079 GRCh38: ChrX:38369826	OTC	G83R	not provided	Pathogenic	no assertion criteria provided
Select item 9714482.	NM_000531.6(OTC):c.248G>A (p.Gly83Asp) GRCh37: ChrX:38229080 GRCh38: ChrX:38369827	OTC	G83D	not provided	Pathogenic	no assertion criteria provided
Select item 23619183.	NM_000531.6(OTC):c.254T>C (p.Ile85Thr) GRCh37: ChrX:38229086 GRCh38: ChrX:38369833	OTC	I85T	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 7, 2015)	no assertion criteria provided
Select item 172516184.	NM_000531.6(OTC):c.261_262del (p.Arg89fs) GRCh37: ChrX:38229091-38229092 GRCh38: ChrX:38369838-38369839	OTC	R89fs	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 1100185.	NM_000531.6(OTC):c.259G>A (p.Glu87Lys) GRCh37: ChrX:38229091 GRCh38: ChrX:38369838	OTC	E87K	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 1, 1992)	no assertion criteria provided
Select item 172622286.	NM_000531.6(OTC):c.262A>T (p.Lys88Ter) GRCh37: ChrX:38229094 GRCh38: ChrX:38369841	OTC	K88*	Ornithine carbamoyltransferase deficiency	Likely pathogenic (May 26, 2022)	criteria provided, single submitter
Select item 9714587.	NM_000531.6(OTC):c.264A>T (p.Lys88Asn) GRCh37: ChrX:38229096 GRCh38: ChrX:38369843	OTC	K88N	not provided	Pathogenic	no assertion criteria provided
Select item 9714688.	NM_000531.6(OTC):c.268A>G (p.Ser90Gly) GRCh37: ChrX:38229100 GRCh38: ChrX:38369847	OTC	S90G	not provided	Pathogenic	no assertion criteria provided
Select item 9714789.	NM_000531.6(OTC):c.269G>A (p.Ser90Asn) GRCh37: ChrX:38229101 GRCh38: ChrX:38369848	OTC	S90N	not provided	Pathogenic	no assertion criteria provided
Select item 9714890.	NM_000531.6(OTC):c.270T>G (p.Ser90Arg) GRCh37: ChrX:38229102 GRCh38: ChrX:38369849	OTC	S90R	not provided	Pathogenic	no assertion criteria provided
Select item 9714991.	NM_000531.6(OTC):c.271del (p.Thr91fs) GRCh37: ChrX:38229103 GRCh38: ChrX:38369850	OTC	T91fs	not provided	Pathogenic	no assertion criteria provided
Select item 9715192.	NM_000531.6(OTC):c.274C>T (p.Arg92Ter) GRCh37: ChrX:38229106 GRCh38: ChrX:38369853	OTC	R92*	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9715093.	NM_000531.6(OTC):c.274C>G (p.Arg92Gly) GRCh37: ChrX:38229106 GRCh38: ChrX:38369853	OTC	R92G	not provided	Pathogenic	no assertion criteria provided
Select item 9715494.	NM_000531.6(OTC):c.275G>T (p.Arg92Leu) GRCh37: ChrX:38229107 GRCh38: ChrX:38369854	OTC	R92L	not provided	Pathogenic	no assertion criteria provided
Select item 9715395.	NM_000531.6(OTC):c.275G>C (p.Arg92Pro) GRCh37: ChrX:38229107 GRCh38: ChrX:38369854	OTC	R92P	not provided	Pathogenic	no assertion criteria provided
Select item 9715296.	NM_000531.6(OTC):c.275G>A (p.Arg92Gln) GRCh37: ChrX:38229107 GRCh38: ChrX:38369854	OTC	R92Q	Ornithine carbamoyltransferase deficiency	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9715597.	NM_000531.6(OTC):c.277A>G (p.Thr93Ala) GRCh37: ChrX:38229109 GRCh38: ChrX:38369856	OTC	T93A	not provided	Pathogenic	no assertion criteria provided
Select item 1100798.	NM_000531.6(OTC):c.281G>C (p.Arg94Thr) GRCh37: ChrX:38229113 GRCh38: ChrX:38369860	OTC	R94T	not provided, Ornithine carbamoyltransferase deficiency	Pathogenic (Feb 1, 2002)	no assertion criteria provided
Select item 9715699.	NM_000531.6(OTC):c.284T>C (p.Leu95Ser) GRCh37: ChrX:38229116 GRCh38: ChrX:38369863	OTC	L95S	not provided	Pathogenic	no assertion criteria provided
Select item 959988100.	NM_000531.6(OTC):c.286T>C (p.Ser96Pro) GRCh37: ChrX:38229118 GRCh38: ChrX:38369865	OTC	S96P	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter

<< First< Prev

Page of 5