ClinVar for MedGen (Select 75692) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25017541.	NM_000531.6(OTC):c.833_864delinsCC (p.Leu278_Met288delinsPro) GRCh37: ChrX:38268244-38268275 GRCh38: ChrX:38408991-38409022	OTC		Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 27, 2022)	criteria provided, single submitter
Select item 24345222.	NM_000531.6(OTC):c.1040C>G (p.Pro347Arg) GRCh37: ChrX:38280310 GRCh38: ChrX:38421057	OTC	P347R	Ornithine carbamoyltransferase deficiency	Uncertain significance (Dec 2, 2020)	criteria provided, single submitter
Select item 24345213.	NM_000531.6(OTC):c.52C>A (p.His18Asn) GRCh37: ChrX:38212001 GRCh38: ChrX:38352748	OTC	H18N	Ornithine carbamoyltransferase deficiency	Uncertain significance (Oct 16, 2019)	criteria provided, single submitter
Select item 24345184.	NM_000531.6(OTC):c.540+5G>C GRCh37: ChrX:38260686 GRCh38: ChrX:38401433	OTC		Ornithine carbamoyltransferase deficiency	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 24345175.	NM_000531.6(OTC):c.512A>G (p.Gln171Arg) GRCh37: ChrX:38260653 GRCh38: ChrX:38401400	OTC	Q171R	Ornithine carbamoyltransferase deficiency	Uncertain significance (Jul 20, 2021)	criteria provided, single submitter
Select item 24281406.	NM_000531.6(OTC):c.528C>T (p.Tyr176=) GRCh37: ChrX:38260669 GRCh38: ChrX:38401416	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 24232387.	NC_000023.10:g.(?_38262851)_(38263013_?)del GRCh37: ChrX:38262851-38263013	OTC		Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 24232378.	NC_000023.10:g.(?_37639262)_(38212036_?)dup GRCh37: ChrX:37639262-38212036	CYBB, DYNLT3, H2AP, OTC, RPGR, SRPX, SYTL5		Ornithine carbamoyltransferase deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 24232369.	NC_000023.10:g.(?_38128879)_(38280335_?)dup GRCh37: ChrX:38128879-38280335	OTC, RPGR		Ornithine carbamoyltransferase deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 242323410.	NC_000023.10:g.(?_38211793)_(38212046_?)del GRCh37: ChrX:38211793-38212046	OTC		Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 9, 2022)	criteria provided, single submitter
Select item 242289211.	NC_000023.10:g.(?_38128879)_(38280335_?)del GRCh37: ChrX:38128879-38280335	OTC, RPGR		Primary ciliary dyskinesia, Ornithine carbamoyltransferase deficiency	Pathogenic (Oct 22, 2022)	criteria provided, single submitter
Select item 219988812.	NM_000531.6(OTC):c.529C>T (p.Leu177Phe) GRCh37: ChrX:38260670 GRCh38: ChrX:38401417	OTC	L177F	Ornithine carbamoyltransferase deficiency	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 219982213.	NM_000531.6(OTC):c.701A>G (p.Glu234Gly) GRCh37: ChrX:38268032 GRCh38: ChrX:38408779	OTC	E234G	Ornithine carbamoyltransferase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 219169814.	NM_000531.6(OTC):c.717+17T>G GRCh37: ChrX:38268065 GRCh38: ChrX:38408812	OTC		Ornithine carbamoyltransferase deficiency	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 219051915.	NM_000531.6(OTC):c.862A>G (p.Met288Val) GRCh37: ChrX:38268273 GRCh38: ChrX:38409020	OTC	M288V	Ornithine carbamoyltransferase deficiency	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 216773316.	NM_000531.6(OTC):c.381G>A (p.Thr127=) GRCh37: ChrX:38240677 GRCh38: ChrX:38381424	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216409117.	NM_000531.6(OTC):c.348T>A (p.Ile116=) GRCh37: ChrX:38240644 GRCh38: ChrX:38381391	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 216285718.	NM_000531.6(OTC):c.32A>G (p.Asn11Ser) GRCh37: ChrX:38211981 GRCh38: ChrX:38352728	OTC	N11S	Ornithine carbamoyltransferase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 215578519.	NM_000531.6(OTC):c.1005+12A>G GRCh37: ChrX:38271264 GRCh38: ChrX:38412011	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 215390220.	NM_000531.6(OTC):c.664G>A (p.Gly222Ser) GRCh37: ChrX:38267995 GRCh38: ChrX:38408742	OTC	G222S	Ornithine carbamoyltransferase deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214022521.	NM_000531.6(OTC):c.664-8T>C GRCh37: ChrX:38267987 GRCh38: ChrX:38408734	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 213854722.	NM_000531.6(OTC):c.1039C>T (p.Pro347Ser) GRCh37: ChrX:38280309 GRCh38: ChrX:38421056	OTC	P347S	Ornithine carbamoyltransferase deficiency	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 213400623.	NM_000531.6(OTC):c.4C>T (p.Leu2=) GRCh37: ChrX:38211953 GRCh38: ChrX:38352700	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 213042024.	NM_000531.6(OTC):c.811G>C (p.Glu271Gln) GRCh37: ChrX:38268222 GRCh38: ChrX:38408969	OTC	E271Q	Ornithine carbamoyltransferase deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 212937125.	NM_000531.6(OTC):c.93A>G (p.Leu31=) GRCh37: ChrX:38226559 GRCh38: ChrX:38367306	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212893226.	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 212181327.	NM_000531.6(OTC):c.303T>C (p.Phe101=) GRCh37: ChrX:38240599 GRCh38: ChrX:38381346	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 211515628.	NM_000531.6(OTC):c.800G>T (p.Ser267Ile) GRCh37: ChrX:38268211 GRCh38: ChrX:38408958	OTC	S267I	Ornithine carbamoyltransferase deficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211098529.	NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe) GRCh37: ChrX:38280304 GRCh38: ChrX:38421051	OTC	Y345F	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 210980630.	NM_000531.6(OTC):c.664-9C>T GRCh37: ChrX:38267986 GRCh38: ChrX:38408733	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210951631.	NM_000531.6(OTC):c.975A>G (p.Pro325=) GRCh37: ChrX:38271222 GRCh38: ChrX:38411969	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210099332.	NM_000531.6(OTC):c.629A>T (p.Lys210Ile) GRCh37: ChrX:38262959 GRCh38: ChrX:38403706	OTC	K210I	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Feb 21, 2022)	criteria provided, single submitter
Select item 209921133.	NM_000531.6(OTC):c.350A>C (p.His117Pro) GRCh37: ChrX:38240646 GRCh38: ChrX:38381393	OTC	H117P	Ornithine carbamoyltransferase deficiency	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 209912234.	NM_000531.6(OTC):c.386+9A>G GRCh37: ChrX:38240691 GRCh38: ChrX:38381438	OTC		Ornithine carbamoyltransferase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 209757735.	NM_000531.6(OTC):c.311T>A (p.Leu104Gln) GRCh37: ChrX:38240607 GRCh38: ChrX:38381354	OTC	L104Q	Ornithine carbamoyltransferase deficiency	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 209486736.	NM_000531.6(OTC):c.975A>C (p.Pro325=) GRCh37: ChrX:38271222 GRCh38: ChrX:38411969	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209408037.	NM_000531.6(OTC):c.609del (p.Ile204fs) GRCh37: ChrX:38262938 GRCh38: ChrX:38403685	OTC	I204fs	Ornithine carbamoyltransferase deficiency	Pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 209288838.	NM_000531.6(OTC):c.10A>G (p.Asn4Asp) GRCh37: ChrX:38211959 GRCh38: ChrX:38352706	OTC	N4D	Ornithine carbamoyltransferase deficiency	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 208680539.	NM_000531.6(OTC):c.510C>T (p.Ile170=) GRCh37: ChrX:38260651 GRCh38: ChrX:38401398	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 208301140.	NM_000531.6(OTC):c.622G>T (p.Ala208Ser) GRCh37: ChrX:38262952 GRCh38: ChrX:38403699	OTC	A208S	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 208130841.	NM_000531.6(OTC):c.1012A>C (p.Met338Leu) GRCh37: ChrX:38280282 GRCh38: ChrX:38421029	OTC	M338L	Ornithine carbamoyltransferase deficiency	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 205813142.	NM_000531.6(OTC):c.972C>T (p.Phe324=) GRCh37: ChrX:38271219 GRCh38: ChrX:38411966	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 204118343.	NM_000531.6(OTC):c.634G>A (p.Gly212Arg) GRCh37: ChrX:38262964 GRCh38: ChrX:38403711	OTC	G212R	Ornithine carbamoyltransferase deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 204049644.	NM_000531.6(OTC):c.689C>A (p.Thr230Asn) GRCh37: ChrX:38268020 GRCh38: ChrX:38408767	OTC	T230N	Ornithine carbamoyltransferase deficiency	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 203871545.	NM_000531.6(OTC):c.144T>C (p.Phe48=) GRCh37: ChrX:38226610 GRCh38: ChrX:38367357	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 203635046.	NM_000531.6(OTC):c.929A>T (p.Glu310Val) GRCh37: ChrX:38271176 GRCh38: ChrX:38411923	OTC	E310V	Ornithine carbamoyltransferase deficiency	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 203612447.	NM_000531.6(OTC):c.516C>A (p.Ile172=) GRCh37: ChrX:38260657 GRCh38: ChrX:38401404	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 202996148.	NM_000531.6(OTC):c.803T>A (p.Met268Lys) GRCh37: ChrX:38268214 GRCh38: ChrX:38408961	OTC	M268K	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 202730249.	NM_000531.6(OTC):c.813A>G (p.Glu271=) GRCh37: ChrX:38268224 GRCh38: ChrX:38408971	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 202536150.	NM_000531.6(OTC):c.531C>G (p.Leu177=) GRCh37: ChrX:38260672 GRCh38: ChrX:38401419	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202133451.	NM_000531.6(OTC):c.531C>T (p.Leu177=) GRCh37: ChrX:38260672 GRCh38: ChrX:38401419	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 201813852.	NM_000531.6(OTC):c.714dup (p.Glu239fs) GRCh37: ChrX:38268042-38268043 GRCh38: ChrX:38408789-38408790	OTC	E239fs	Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 201763753.	NM_000531.6(OTC):c.541-14C>T GRCh37: ChrX:38262857 GRCh38: ChrX:38403604	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 201590554.	NM_000531.6(OTC):c.229T>C (p.Leu77=) GRCh37: ChrX:38229061 GRCh38: ChrX:38369808	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 201448855.	NM_000531.6(OTC):c.636A>C (p.Gly212=) GRCh37: ChrX:38262966 GRCh38: ChrX:38403713	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 201393356.	NM_000531.6(OTC):c.810A>G (p.Gln270=) GRCh37: ChrX:38268221 GRCh38: ChrX:38408968	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 201294957.	NM_000531.6(OTC):c.848del (p.Gly283fs) GRCh37: ChrX:38268258 GRCh38: ChrX:38409005	OTC	G283fs	Ornithine carbamoyltransferase deficiency	Pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 201172758.	NM_000531.6(OTC):c.1020C>T (p.Ser340=) GRCh37: ChrX:38280290 GRCh38: ChrX:38421037	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 200488059.	NM_000531.6(OTC):c.448A>T (p.Thr150Ser) GRCh37: ChrX:38260589 GRCh38: ChrX:38401336	OTC	T150S	Ornithine carbamoyltransferase deficiency	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 199831260.	NM_000531.6(OTC):c.344A>G (p.Asp115Gly) GRCh37: ChrX:38240640 GRCh38: ChrX:38381387	OTC	D115G	Ornithine carbamoyltransferase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 199817261.	NM_000531.6(OTC):c.915C>G (p.Pro305=) GRCh37: ChrX:38271162 GRCh38: ChrX:38411909	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 199490962.	NM_000531.6(OTC):c.139A>C (p.Asn47His) GRCh37: ChrX:38226605 GRCh38: ChrX:38367352	OTC	N47H	Ornithine carbamoyltransferase deficiency	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 199474163.	NM_000531.6(OTC):c.439G>C (p.Asp147His) GRCh37: ChrX:38260580 GRCh38: ChrX:38401327	OTC	D147H	Ornithine carbamoyltransferase deficiency	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 197352464.	NM_000531.6(OTC):c.376G>A (p.Asp126Asn) GRCh37: ChrX:38240672 GRCh38: ChrX:38381419	OTC	D126N	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 196913665.	NM_000531.6(OTC):c.897A>G (p.Thr299=) GRCh37: ChrX:38271144 GRCh38: ChrX:38411891	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 196888766.	NM_000531.6(OTC):c.216+5G>A GRCh37: ChrX:38226687 GRCh38: ChrX:38367434	OTC		Ornithine carbamoyltransferase deficiency	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 195238267.	NM_000531.6(OTC):c.699A>C (p.Ala233=) GRCh37: ChrX:38268030 GRCh38: ChrX:38408777	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 195134668.	NM_000531.6(OTC):c.501C>T (p.Tyr167=) GRCh37: ChrX:38260642 GRCh38: ChrX:38401389	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 193746169.	NM_000531.6(OTC):c.863T>G (p.Met288Arg) GRCh37: ChrX:38268274 GRCh38: ChrX:38409021	OTC	M288R	Ornithine carbamoyltransferase deficiency	Benign (Jun 27, 2022)	criteria provided, single submitter
Select item 192743770.	NM_000531.6(OTC):c.448A>G (p.Thr150Ala) GRCh37: ChrX:38260589 GRCh38: ChrX:38401336	OTC	T150A	Ornithine carbamoyltransferase deficiency	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 191723571.	NM_000531.6(OTC):c.88C>T (p.Pro30Ser) GRCh37: ChrX:38226554 GRCh38: ChrX:38367301	OTC	P30S	Ornithine carbamoyltransferase deficiency	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 191561372.	NM_000531.6(OTC):c.387T>C (p.Arg129=) GRCh37: ChrX:38260528 GRCh38: ChrX:38401275	OTC		Ornithine carbamoyltransferase deficiency	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 190009473.	NM_000531.6(OTC):c.990A>G (p.Arg330=) GRCh37: ChrX:38271237 GRCh38: ChrX:38411984	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 187829574.	NM_000531.6(OTC):c.628A>G (p.Lys210Glu) GRCh37: ChrX:38262958 GRCh38: ChrX:38403705	OTC	K210E	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 2, 2022)	criteria provided, single submitter
Select item 180468975.	NM_000531.6(OTC):c.663G>T (p.Lys221Asn) GRCh37: ChrX:38262993 GRCh38: ChrX:38403740	OTC	K221N	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Nov 13, 2022)	criteria provided, single submitter
Select item 175422576.	NM_000531.6(OTC):c.656C>A (p.Thr219Asn) GRCh37: ChrX:38262986 GRCh38: ChrX:38403733	OTC	T219N	Inborn genetic diseases, Ornithine carbamoyltransferase deficiency	Uncertain significance (Jun 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 172698377.	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 172656978.	NM_000531.6(OTC):c.814G>T (p.Glu272Ter) GRCh37: ChrX:38268225 GRCh38: ChrX:38408972	OTC	E272*	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 172626679.	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 172622280.	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 172516181.	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 172444082.	NM_000531.6(OTC):c.826A>T (p.Lys276Ter) GRCh37: ChrX:38268237 GRCh38: ChrX:38408984	OTC	K276*	Ornithine carbamoyltransferase deficiency	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172439783.	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 172097984.	NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His) GRCh37: ChrX:38226591-38226592 GRCh38: ChrX:38367338-38367339	OTC	L42H	Ornithine carbamoyltransferase deficiency	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 170759185.	NM_000531.6(OTC):c.125T>A (p.Leu42His) GRCh37: ChrX:38226591 GRCh38: ChrX:38367338	OTC	L42H	Ornithine carbamoyltransferase deficiency	Uncertain significance (Oct 25, 2021)	criteria provided, single submitter
Select item 170159686.	NM_000531.6(OTC):c.840T>G (p.Ala280=) GRCh37: ChrX:38268251 GRCh38: ChrX:38408998	OTC		not provided, Ornithine carbamoyltransferase deficiency	Likely benign (Jun 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168600087.	NM_000531.6(OTC):c.867G>A (p.Lys289=) GRCh37: ChrX:38268278 GRCh38: ChrX:38409025	OTC		Ornithine carbamoyltransferase deficiency	Conflicting interpretations of pathogenicity (Jul 15, 2022)	criteria provided, conflicting interpretations
Select item 168539088.	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 167330589.	NM_000531.6(OTC):c.601C>T (p.Leu201=) GRCh37: ChrX:38262931 GRCh38: ChrX:38403678	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jul 7, 2021)	criteria provided, single submitter
Select item 167153490.	NM_000531.6(OTC):c.352T>C (p.Leu118=) GRCh37: ChrX:38240648 GRCh38: ChrX:38381395	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 167012191.	NM_000531.6(OTC):c.729G>A (p.Lys243=) GRCh37: ChrX:38268140 GRCh38: ChrX:38408887	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 166993892.	NM_000531.6(OTC):c.386+10T>A GRCh37: ChrX:38240692 GRCh38: ChrX:38381439	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Jun 23, 2021)	criteria provided, single submitter
Select item 166965693.	NM_000531.6(OTC):c.483T>C (p.Asn161=) GRCh37: ChrX:38260624 GRCh38: ChrX:38401371	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 166158094.	NM_000531.6(OTC):c.822G>A (p.Lys274=) GRCh37: ChrX:38268233 GRCh38: ChrX:38408980	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Dec 14, 2020)	criteria provided, single submitter
Select item 165929795.	NM_000531.6(OTC):c.217-4A>G GRCh37: ChrX:38229045 GRCh38: ChrX:38369792	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Mar 28, 2021)	criteria provided, single submitter
Select item 165895696.	NM_000531.6(OTC):c.387-11G>A GRCh37: ChrX:38260517 GRCh38: ChrX:38401264	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 165841897.	NM_000531.6(OTC):c.216+8A>G GRCh37: ChrX:38226690 GRCh38: ChrX:38367437	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Sep 26, 2021)	criteria provided, single submitter
Select item 165631598.	NM_000531.6(OTC):c.591G>A (p.Gly197=) GRCh37: ChrX:38262921 GRCh38: ChrX:38403668	OTC		Ornithine carbamoyltransferase deficiency	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 165551699.	NM_000531.6(OTC):c.764A>G (p.His255Arg) GRCh37: ChrX:38268175 GRCh38: ChrX:38408922	OTC	H255R	Ornithine carbamoyltransferase deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 1629673100.	NM_000531.6(OTC):c.663+17C>T GRCh37: ChrX:38263010 GRCh38: ChrX:38403757	OTC		Ornithine carbamoyltransferase deficiency	Benign (Feb 28, 2021)	criteria provided, single submitter

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