ClinVar for MedGen (Select 120649) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24320401.	NM_153006.3(NAGS):c.458del (p.Gly153fs) GRCh37: Chr17:42083034 GRCh38: Chr17:44005666	NAGS	G153fs	Hyperammonemia, type III	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 24320322.	NM_153006.3(NAGS):c.702-1G>C GRCh37: Chr17:42083391 GRCh38: Chr17:44006023	NAGS		Hyperammonemia, type III	Likely pathogenic (Oct 1, 2022)	criteria provided, single submitter
Select item 24320203.	NM_153006.3(NAGS):c.872T>A (p.Ile291Asn) GRCh37: Chr17:42083562 GRCh38: Chr17:44006194	NAGS	I291N	Hyperammonemia, type III	Conflicting interpretations of pathogenicity (May 31, 2022)	criteria provided, conflicting interpretations
Select item 24210794.	NM_153006.3(NAGS):c.467G>A (p.Ser156Asn) GRCh37: Chr17:42083045 GRCh38: Chr17:44005677	NAGS	S156N	Hyperammonemia, type III	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 24206305.	NM_153006.3(NAGS):c.801C>A (p.Arg267=) GRCh37: Chr17:42083491 GRCh38: Chr17:44006123	NAGS		Hyperammonemia, type III	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 24179576.	NM_153006.3(NAGS):c.83C>T (p.Ala28Val) GRCh37: Chr17:42082114 GRCh38: Chr17:44004746	NAGS	A28V	Hyperammonemia, type III	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 24169287.	NM_153006.3(NAGS):c.1369G>A (p.Gly457Ser) GRCh37: Chr17:42085059 GRCh38: Chr17:44007691	NAGS	G457S	Hyperammonemia, type III	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 21986418.	NM_153006.3(NAGS):c.236C>T (p.Ser79Leu) GRCh37: Chr17:42082267 GRCh38: Chr17:44004899	NAGS	S79L	Hyperammonemia, type III, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 14, 2021)	criteria provided, conflicting interpretations
Select item 21976029.	NM_153006.3(NAGS):c.1199G>C (p.Gly400Ala) GRCh37: Chr17:42084793 GRCh38: Chr17:44007425	NAGS	G400A	Hyperammonemia, type III	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 219201610.	NM_004160.6(PYY):c.-463+2753G>A GRCh37: Chr17:42079006 GRCh38: Chr17:44001638	NAGS, PYY		Hyperammonemia, type III	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 219171111.	NM_153006.3(NAGS):c.1368C>T (p.Ser456=) GRCh37: Chr17:42085058 GRCh38: Chr17:44007690	NAGS		Hyperammonemia, type III	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 218361112.	NM_153006.3(NAGS):c.1269-5G>A GRCh37: Chr17:42084954 GRCh38: Chr17:44007586	NAGS		Hyperammonemia, type III	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 218334013.	NM_153006.3(NAGS):c.936G>A (p.Leu312=) GRCh37: Chr17:42083917 GRCh38: Chr17:44006549	NAGS		Hyperammonemia, type III	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 218299814.	NM_153006.3(NAGS):c.528G>A (p.Gly176=) GRCh37: Chr17:42083106 GRCh38: Chr17:44005738	NAGS		Hyperammonemia, type III	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 217736015.	NM_153006.3(NAGS):c.138G>A (p.Gly46=) GRCh37: Chr17:42082169 GRCh38: Chr17:44004801	NAGS		Hyperammonemia, type III	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 217434016.	NM_153006.3(NAGS):c.2T>C (p.Met1Thr) GRCh37: Chr17:42082033 GRCh38: Chr17:44004665	NAGS	M1T	Hyperammonemia, type III	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 217183817.	NM_153006.3(NAGS):c.72C>T (p.Gly24=) GRCh37: Chr17:42082103 GRCh38: Chr17:44004735	NAGS		Hyperammonemia, type III	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 216807718.	NM_153006.3(NAGS):c.541A>G (p.Thr181Ala) GRCh37: Chr17:42083119 GRCh38: Chr17:44005751	NAGS	T181A	Hyperammonemia, type III	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 216777119.	NM_153006.3(NAGS):c.611T>C (p.Val204Ala) GRCh37: Chr17:42083189 GRCh38: Chr17:44005821	NAGS	V204A	Hyperammonemia, type III	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 216574220.	NM_153006.3(NAGS):c.876C>G (p.Phe292Leu) GRCh37: Chr17:42083566 GRCh38: Chr17:44006198	NAGS	F292L	Hyperammonemia, type III	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 216383521.	NM_153006.3(NAGS):c.710G>A (p.Gly237Asp) GRCh37: Chr17:42083400 GRCh38: Chr17:44006032	NAGS	G237D	Hyperammonemia, type III	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 216264722.	NM_153006.3(NAGS):c.796G>T (p.Ala266Ser) GRCh37: Chr17:42083486 GRCh38: Chr17:44006118	NAGS	A266S	Hyperammonemia, type III	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 215872123.	NM_153006.3(NAGS):c.701+20G>A GRCh37: Chr17:42083299 GRCh38: Chr17:44005931	NAGS		Hyperammonemia, type III	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215692724.	NM_153006.3(NAGS):c.89G>A (p.Arg30Lys) GRCh37: Chr17:42082120 GRCh38: Chr17:44004752	NAGS	R30K	Hyperammonemia, type III	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 215568525.	NM_153006.3(NAGS):c.125G>T (p.Gly42Val) GRCh37: Chr17:42082156 GRCh38: Chr17:44004788	NAGS	G42V	Hyperammonemia, type III	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 215507726.	NM_153006.3(NAGS):c.1524C>G (p.Ile508Met) GRCh37: Chr17:42085888 GRCh38: Chr17:44008520	NAGS	I508M	Hyperammonemia, type III	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 214631727.	NM_153006.3(NAGS):c.536C>T (p.Ala179Val) GRCh37: Chr17:42083114 GRCh38: Chr17:44005746	NAGS	A179V	Hyperammonemia, type III	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 214466128.	NM_153006.3(NAGS):c.881A>G (p.Asn294Ser) GRCh37: Chr17:42083571 GRCh38: Chr17:44006203	NAGS	N294S	Hyperammonemia, type III	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 214405129.	NM_153006.3(NAGS):c.65G>C (p.Arg22Pro) GRCh37: Chr17:42082096 GRCh38: Chr17:44004728	NAGS	R22P	Hyperammonemia, type III	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 214324930.	NM_153006.3(NAGS):c.1056C>T (p.Thr352=) GRCh37: Chr17:42084037 GRCh38: Chr17:44006669	NAGS		Hyperammonemia, type III	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 214232631.	NM_153006.3(NAGS):c.426+15G>C GRCh37: Chr17:42082472 GRCh38: Chr17:44005104	NAGS		Hyperammonemia, type III	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 213804832.	NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr) GRCh37: Chr17:42085916 GRCh38: Chr17:44008548	NAGS	A518T	Hyperammonemia, type III	Conflicting interpretations of pathogenicity (Jul 29, 2022)	criteria provided, conflicting interpretations
Select item 213804733.	NM_153006.3(NAGS):c.1324C>G (p.Leu442Val) GRCh37: Chr17:42085014 GRCh38: Chr17:44007646	NAGS	L442V	Hyperammonemia, type III	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 213804634.	NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro) GRCh37: Chr17:42084822 GRCh38: Chr17:44007454	NAGS	S410P	Hyperammonemia, type III	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 213582435.	NM_153006.3(NAGS):c.1230G>A (p.Ser410=) GRCh37: Chr17:42084824 GRCh38: Chr17:44007456	NAGS		Hyperammonemia, type III	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 213508336.	NM_153006.3(NAGS):c.1268+17del GRCh37: Chr17:42084876 GRCh38: Chr17:44007508	NAGS		Hyperammonemia, type III	Benign (May 9, 2022)	criteria provided, single submitter
Select item 213410537.	NM_153006.3(NAGS):c.785G>C (p.Gly262Ala) GRCh37: Chr17:42083475 GRCh38: Chr17:44006107	NAGS	G262A	Hyperammonemia, type III	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 213199938.	NM_153006.3(NAGS):c.116_122dup (p.Arg41fs) GRCh37: Chr17:42082145-42082146 GRCh38: Chr17:44004777-44004778	NAGS	R41fs	Hyperammonemia, type III	Pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 212453339.	NM_153006.3(NAGS):c.918C>T (p.Val306=) GRCh37: Chr17:42083899 GRCh38: Chr17:44006531	NAGS		Hyperammonemia, type III	Likely benign (Apr 17, 2022)	criteria provided, single submitter
Select item 211976440.	NM_153006.3(NAGS):c.134del (p.Pro45fs) GRCh37: Chr17:42082163 GRCh38: Chr17:44004795	NAGS	P45fs	Hyperammonemia, type III	Pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 211830841.	NM_153006.3(NAGS):c.261G>A (p.Pro87=) GRCh37: Chr17:42082292 GRCh38: Chr17:44004924	NAGS		Hyperammonemia, type III	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211647942.	NM_153006.3(NAGS):c.778C>A (p.Pro260Thr) GRCh37: Chr17:42083468 GRCh38: Chr17:44006100	NAGS	P260T	Hyperammonemia, type III	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 211624343.	NM_153006.3(NAGS):c.984A>C (p.Lys328Asn) GRCh37: Chr17:42083965 GRCh38: Chr17:44006597	NAGS	K328N	Hyperammonemia, type III	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211405244.	NM_153006.3(NAGS):c.701+7G>A GRCh37: Chr17:42083286 GRCh38: Chr17:44005918	NAGS		Hyperammonemia, type III	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211303145.	NM_153006.3(NAGS):c.71G>A (p.Gly24Asp) GRCh37: Chr17:42082102 GRCh38: Chr17:44004734	NAGS	G24D	Hyperammonemia, type III	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 211249246.	NM_153006.3(NAGS):c.513G>A (p.Pro171=) GRCh37: Chr17:42083091 GRCh38: Chr17:44005723	NAGS		Hyperammonemia, type III	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 211187847.	NM_153006.3(NAGS):c.120G>A (p.Ala40=) GRCh37: Chr17:42082151 GRCh38: Chr17:44004783	NAGS		Hyperammonemia, type III	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 210858248.	NM_153006.3(NAGS):c.198G>T (p.Ala66=) GRCh37: Chr17:42082229 GRCh38: Chr17:44004861	NAGS		Hyperammonemia, type III	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 210814749.	NM_153006.3(NAGS):c.342G>C (p.Gly114=) GRCh37: Chr17:42082373 GRCh38: Chr17:44005005	NAGS		Hyperammonemia, type III	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210660650.	NM_153006.3(NAGS):c.147C>A (p.Leu49=) GRCh37: Chr17:42082178 GRCh38: Chr17:44004810	NAGS		Hyperammonemia, type III	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 210364351.	NM_153006.3(NAGS):c.602A>C (p.Lys201Thr) GRCh37: Chr17:42083180 GRCh38: Chr17:44005812	NAGS	K201T	Hyperammonemia, type III	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 209880152.	NM_153006.3(NAGS):c.1110G>A (p.Leu370=) GRCh37: Chr17:42084704 GRCh38: Chr17:44007336	NAGS		Hyperammonemia, type III	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209693553.	NM_153006.3(NAGS):c.1268+7C>T GRCh37: Chr17:42084869 GRCh38: Chr17:44007501	NAGS		Hyperammonemia, type III	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 209592954.	NM_153006.3(NAGS):c.1035C>T (p.His345=) GRCh37: Chr17:42084016 GRCh38: Chr17:44006648	NAGS		Hyperammonemia, type III	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 209583455.	NM_153006.3(NAGS):c.702-7C>T GRCh37: Chr17:42083385 GRCh38: Chr17:44006017	NAGS		Hyperammonemia, type III	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 208929856.	NM_153006.3(NAGS):c.1029G>A (p.Leu343=) GRCh37: Chr17:42084010 GRCh38: Chr17:44006642	NAGS		Hyperammonemia, type III	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 208686157.	NM_153006.3(NAGS):c.1062T>C (p.Ala354=) GRCh37: Chr17:42084043 GRCh38: Chr17:44006675	NAGS		Hyperammonemia, type III	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 208683258.	NM_153006.3(NAGS):c.330G>A (p.Leu110=) GRCh37: Chr17:42082361 GRCh38: Chr17:44004993	NAGS		Hyperammonemia, type III	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 208589859.	NM_153006.3(NAGS):c.1269-14T>C GRCh37: Chr17:42084945 GRCh38: Chr17:44007577	NAGS		Hyperammonemia, type III	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 208584760.	NM_153006.3(NAGS):c.353G>C (p.Gly118Ala) GRCh37: Chr17:42082384 GRCh38: Chr17:44005016	NAGS	G118A	Hyperammonemia, type III	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 208167761.	NM_153006.3(NAGS):c.781A>G (p.Ile261Val) GRCh37: Chr17:42083471 GRCh38: Chr17:44006103	NAGS	I261V	Hyperammonemia, type III	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 207841862.	NM_153006.3(NAGS):c.115G>A (p.Ala39Thr) GRCh37: Chr17:42082146 GRCh38: Chr17:44004778	NAGS	A39T	Hyperammonemia, type III	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 207655563.	NM_153006.3(NAGS):c.1263C>T (p.Ser421=) GRCh37: Chr17:42084857 GRCh38: Chr17:44007489	NAGS		Hyperammonemia, type III	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 207227564.	NM_153006.3(NAGS):c.234G>A (p.Pro78=) GRCh37: Chr17:42082265 GRCh38: Chr17:44004897	NAGS		Hyperammonemia, type III	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 207116365.	NM_153006.3(NAGS):c.193G>A (p.Gly65Ser) GRCh37: Chr17:42082224 GRCh38: Chr17:44004856	NAGS	G65S	Hyperammonemia, type III	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 206987866.	NM_153006.3(NAGS):c.949G>A (p.Asp317Asn) GRCh37: Chr17:42083930 GRCh38: Chr17:44006562	NAGS	D317N	Hyperammonemia, type III	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 206467967.	NM_153006.3(NAGS):c.1192A>T (p.Ser398Cys) GRCh37: Chr17:42084786 GRCh38: Chr17:44007418	NAGS	S398C	Hyperammonemia, type III	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 205990468.	NM_153006.3(NAGS):c.333C>T (p.Asn111=) GRCh37: Chr17:42082364 GRCh38: Chr17:44004996	NAGS		Hyperammonemia, type III	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 205583769.	NM_153006.3(NAGS):c.915+14_915+17del GRCh37: Chr17:42083614-42083617 GRCh38: Chr17:44006246-44006249	NAGS		Hyperammonemia, type III	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 204457370.	NM_153006.3(NAGS):c.386C>G (p.Thr129Ser) GRCh37: Chr17:42082417 GRCh38: Chr17:44005049	NAGS	T129S	Hyperammonemia, type III	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 203729871.	NM_153006.3(NAGS):c.181G>C (p.Glu61Gln) GRCh37: Chr17:42082212 GRCh38: Chr17:44004844	NAGS	E61Q	Hyperammonemia, type III	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 203633172.	NM_153006.3(NAGS):c.777C>T (p.Cys259=) GRCh37: Chr17:42083467 GRCh38: Chr17:44006099	NAGS		Hyperammonemia, type III	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 203566873.	NM_153006.3(NAGS):c.205G>C (p.Val69Leu) GRCh37: Chr17:42082236 GRCh38: Chr17:44004868	NAGS	V69L	Hyperammonemia, type III	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 203371174.	NM_153006.3(NAGS):c.702-4A>G GRCh37: Chr17:42083388 GRCh38: Chr17:44006020	NAGS		Hyperammonemia, type III	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 203201875.	NM_153006.3(NAGS):c.1290G>A (p.Leu430=) GRCh37: Chr17:42084980 GRCh38: Chr17:44007612	NAGS		Hyperammonemia, type III	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203165576.	NM_153006.3(NAGS):c.258C>T (p.Pro86=) GRCh37: Chr17:42082289 GRCh38: Chr17:44004921	NAGS		Hyperammonemia, type III	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 203106877.	NM_153006.3(NAGS):c.840G>A (p.Ser280=) GRCh37: Chr17:42083530 GRCh38: Chr17:44006162	NAGS		Hyperammonemia, type III	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 203054078.	NM_153006.3(NAGS):c.1434C>A (p.Thr478=) GRCh37: Chr17:42085124 GRCh38: Chr17:44007756	NAGS		Hyperammonemia, type III	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202786279.	NM_153006.3(NAGS):c.1278C>T (p.Ala426=) GRCh37: Chr17:42084968 GRCh38: Chr17:44007600	NAGS		Hyperammonemia, type III	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202446480.	NM_153006.3(NAGS):c.519G>T (p.Val173=) GRCh37: Chr17:42083097 GRCh38: Chr17:44005729	NAGS		Hyperammonemia, type III	Likely benign (Aug 17, 2022)	criteria provided, single submitter
Select item 202166381.	NM_153006.3(NAGS):c.768C>G (p.Pro256=) GRCh37: Chr17:42083458 GRCh38: Chr17:44006090	NAGS		Hyperammonemia, type III	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202160182.	NM_153006.3(NAGS):c.1215C>T (p.Asp405=) GRCh37: Chr17:42084809 GRCh38: Chr17:44007441	NAGS		Hyperammonemia, type III	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201497483.	NM_153006.3(NAGS):c.1044G>A (p.Ser348=) GRCh37: Chr17:42084025 GRCh38: Chr17:44006657	NAGS		Hyperammonemia, type III	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 201452284.	NM_153006.3(NAGS):c.1281C>T (p.Ala427=) GRCh37: Chr17:42084971 GRCh38: Chr17:44007603	NAGS		Hyperammonemia, type III	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 201416385.	NM_153006.3(NAGS):c.1389C>G (p.Cys463Trp) GRCh37: Chr17:42085079 GRCh38: Chr17:44007711	NAGS	C463W	Hyperammonemia, type III	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 201176886.	NM_153006.3(NAGS):c.939C>G (p.Pro313=) GRCh37: Chr17:42083920 GRCh38: Chr17:44006552	NAGS		Hyperammonemia, type III	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 199887587.	NM_153006.3(NAGS):c.289T>C (p.Ser97Pro) GRCh37: Chr17:42082320 GRCh38: Chr17:44004952	NAGS	S97P	Hyperammonemia, type III	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199791688.	NM_153006.3(NAGS):c.234G>T (p.Pro78=) GRCh37: Chr17:42082265 GRCh38: Chr17:44004897	NAGS		Hyperammonemia, type III	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 199004089.	NM_153006.3(NAGS):c.702-16C>T GRCh37: Chr17:42083376 GRCh38: Chr17:44006008	NAGS		Hyperammonemia, type III	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 198955090.	NM_153006.3(NAGS):c.591C>T (p.Ala197=) GRCh37: Chr17:42083169 GRCh38: Chr17:44005801	NAGS		Hyperammonemia, type III	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 198614691.	NM_153006.3(NAGS):c.552G>A (p.Ser184=) GRCh37: Chr17:42083130 GRCh38: Chr17:44005762	NAGS		Hyperammonemia, type III	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 198545992.	NM_153006.3(NAGS):c.1096+25_1096+55del GRCh37: Chr17:42084094-42084124 GRCh38: Chr17:44006726-44006756	NAGS		Hyperammonemia, type III	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 198497293.	NM_153006.3(NAGS):c.516G>C (p.Leu172=) GRCh37: Chr17:42083094 GRCh38: Chr17:44005726	NAGS		Hyperammonemia, type III	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 198491494.	NM_153006.3(NAGS):c.1096+17G>A GRCh37: Chr17:42084094 GRCh38: Chr17:44006726	NAGS		Hyperammonemia, type III	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 198482695.	NM_153006.3(NAGS):c.114G>A (p.Arg38=) GRCh37: Chr17:42082145 GRCh38: Chr17:44004777	NAGS		Hyperammonemia, type III	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 198160196.	NM_153006.3(NAGS):c.681C>T (p.Ala227=) GRCh37: Chr17:42083259 GRCh38: Chr17:44005891	NAGS		Hyperammonemia, type III	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 197453597.	NM_153006.3(NAGS):c.1167C>T (p.Gly389=) GRCh37: Chr17:42084761 GRCh38: Chr17:44007393	NAGS		Hyperammonemia, type III	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 196974998.	NM_153006.3(NAGS):c.552G>T (p.Ser184=) GRCh37: Chr17:42083130 GRCh38: Chr17:44005762	NAGS		Hyperammonemia, type III	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 195972599.	NM_153006.3(NAGS):c.544G>C (p.Ala182Pro) GRCh37: Chr17:42083122 GRCh38: Chr17:44005754	NAGS	A182P	Hyperammonemia, type III	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 1957747100.	NM_153006.3(NAGS):c.747C>T (p.Cys249=) GRCh37: Chr17:42083437 GRCh38: Chr17:44006069	NAGS		Hyperammonemia, type III	Likely benign (Mar 10, 2022)	criteria provided, single submitter

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