ClinVar for MedGen (Select 78687) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25772481.	NM_000048.4(ASL):c.436C>G (p.Arg146Gly) GRCh37: Chr7:65548151 GRCh38: Chr7:66083164	ASL	R146G	Argininosuccinate lyase deficiency	Likely pathogenic (Jul 28, 2023)	criteria provided, single submitter
Select item 25039132.	NM_000048.4(ASL):c.925G>A (p.Gly309Arg) GRCh37: Chr7:65554269 GRCh38: Chr7:66089282	ASL	G309R, G283R	Argininosuccinate lyase deficiency	Likely pathogenic (Apr 26, 2023)	criteria provided, single submitter
Select item 24467283.	NM_000048.4(ASL):c.478del (p.His160fs) GRCh37: Chr7:65551601 GRCh38: Chr7:66086614	ASL	H160fs	Argininosuccinate lyase deficiency	Likely pathogenic	criteria provided, single submitter
Select item 24457244.	NM_000048.4(ASL):c.978+1G>A GRCh37: Chr7:65554323 GRCh38: Chr7:66089336	ASL		Argininosuccinate lyase deficiency	Likely pathogenic (Feb 6, 2023)	criteria provided, single submitter
Select item 24222005.	NC_000007.13:g.(?_65551562)_(65557909_?)dup GRCh37: Chr7:65551562-65557909	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 24221996.	NC_000007.13:g.(?_65546770)_(65557899_?)dup GRCh37: Chr7:65546770-65557899	ASL		Argininosuccinate lyase deficiency	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 24221987.	NC_000007.13:g.(?_65541069)_(65557899_?)dup GRCh37: Chr7:65541069-65557899	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 24221978.	NC_000007.13:g.(?_65547857)_(65548171_?)del GRCh37: Chr7:65547857-65548171	ASL		Argininosuccinate lyase deficiency	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 24194129.	NM_000048.4(ASL):c.974T>G (p.Leu325Ter) GRCh37: Chr7:65554318 GRCh38: Chr7:66089331	ASL	L299, L325	Argininosuccinate lyase deficiency	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 241569810.	NM_000048.4(ASL):c.719-13C>T GRCh37: Chr7:65553781 GRCh38: Chr7:66088794	ASL		Argininosuccinate lyase deficiency	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 220266811.	NM_000048.4(ASL):c.979-3C>T GRCh37: Chr7:65554596 GRCh38: Chr7:66089609	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 220260412.	NM_000048.4(ASL):c.398C>T (p.Ser133Leu) GRCh37: Chr7:65548113 GRCh38: Chr7:66083126	ASL	S133L	Argininosuccinate lyase deficiency	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 220148213.	NM_000048.4(ASL):c.655+20C>T GRCh37: Chr7:65552393 GRCh38: Chr7:66087406	ASL		Argininosuccinate lyase deficiency	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 219986514.	NM_000048.4(ASL):c.291G>A (p.Lys97=) GRCh37: Chr7:65547438 GRCh38: Chr7:66082451	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 219811915.	NM_000048.4(ASL):c.837G>A (p.Thr279=) GRCh37: Chr7:65554081 GRCh38: Chr7:66089094	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 219683416.	NM_000048.4(ASL):c.1135C>G (p.Arg379Gly) GRCh37: Chr7:65557065 GRCh38: Chr7:66092078	ASL	R379G, R353G, R359G	Argininosuccinate lyase deficiency	Likely pathogenic (Jun 11, 2022)	criteria provided, single submitter
Select item 219627617.	NM_000048.4(ASL):c.834-13C>T GRCh37: Chr7:65554065 GRCh38: Chr7:66089078	ASL		Argininosuccinate lyase deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 219391518.	NM_000048.4(ASL):c.811G>T (p.Val271Leu) GRCh37: Chr7:65553886 GRCh38: Chr7:66088899	ASL	V271L, V245L	Argininosuccinate lyase deficiency	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219129119.	NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs) GRCh37: Chr7:65548140-65548141 GRCh38: Chr7:66083153-66083154	ASL	M143fs	Argininosuccinate lyase deficiency	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 218960920.	NM_000048.4(ASL):c.5C>A (p.Ala2Asp) GRCh37: Chr7:65541073 GRCh38: Chr7:66076086	ASL	A2D	Argininosuccinate lyase deficiency, Inborn genetic diseases	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218851521.	NM_000048.4(ASL):c.978+11G>A GRCh37: Chr7:65554333 GRCh38: Chr7:66089346	ASL		Argininosuccinate lyase deficiency	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 218718122.	NM_000048.4(ASL):c.165C>T (p.Leu55=) GRCh37: Chr7:65546942 GRCh38: Chr7:66081955	ASL		Argininosuccinate lyase deficiency	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 218575323.	NM_000048.4(ASL):c.1221G>A (p.Gln407=) GRCh37: Chr7:65557621 GRCh38: Chr7:66092634	ASL		Argininosuccinate lyase deficiency	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 218572824.	NM_000048.4(ASL):c.918+19G>A GRCh37: Chr7:65554181 GRCh38: Chr7:66089194	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 218246525.	NM_000048.4(ASL):c.446+14G>A GRCh37: Chr7:65548175 GRCh38: Chr7:66083188	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 217726026.	NM_000048.4(ASL):c.656-9C>T GRCh37: Chr7:65552707 GRCh38: Chr7:66087720	ASL		Argininosuccinate lyase deficiency	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 217380827.	NM_000048.4(ASL):c.1358G>T (p.Arg453Leu) GRCh37: Chr7:65557862 GRCh38: Chr7:66092875	ASL	R433L, R427L, R453L	Argininosuccinate lyase deficiency	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 217166228.	NM_000048.4(ASL):c.1062+13C>A GRCh37: Chr7:65554695 GRCh38: Chr7:66089708	ASL		Argininosuccinate lyase deficiency	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 216752629.	NM_000048.4(ASL):c.1174G>A (p.Gly392Arg) GRCh37: Chr7:65557574 GRCh38: Chr7:66092587	ASL	G372R, G392R, G366R	Inborn genetic diseases, Argininosuccinate lyase deficiency	Uncertain significance (Dec 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216473730.	NM_000048.4(ASL):c.719-13C>A GRCh37: Chr7:65553781 GRCh38: Chr7:66088794	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 216311931.	NM_000048.4(ASL):c.978+5G>A GRCh37: Chr7:65554327 GRCh38: Chr7:66089340	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216041632.	NM_000048.4(ASL):c.1382C>T (p.Ala461Val) GRCh37: Chr7:65557886 GRCh38: Chr7:66092899	ASL	A441V, A461V, A435V	Argininosuccinate lyase deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 216032633.	NM_000048.4(ASL):c.834-5C>A GRCh37: Chr7:65554073 GRCh38: Chr7:66089086	ASL		Argininosuccinate lyase deficiency	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 216027634.	NM_000048.4(ASL):c.932T>C (p.Leu311Pro) GRCh37: Chr7:65554276 GRCh38: Chr7:66089289	ASL	L311P, L285P	Argininosuccinate lyase deficiency	Likely pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 215161335.	NM_000048.4(ASL):c.1334G>A (p.Arg445His) GRCh37: Chr7:65557838 GRCh38: Chr7:66092851	ASL	R419H, R425H, R445H	Argininosuccinate lyase deficiency, Inborn genetic diseases	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214923336.	NM_000048.4(ASL):c.94C>T (p.Arg32Trp) GRCh37: Chr7:65546871 GRCh38: Chr7:66081884	ASL	R32W	Argininosuccinate lyase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214637837.	NM_000048.4(ASL):c.979-18C>G GRCh37: Chr7:65554581 GRCh38: Chr7:66089594	ASL		Argininosuccinate lyase deficiency	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 214485938.	NM_000048.4(ASL):c.656-5C>G GRCh37: Chr7:65552711 GRCh38: Chr7:66087724	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214451139.	NM_000048.4(ASL):c.907G>A (p.Val303Met) GRCh37: Chr7:65554151 GRCh38: Chr7:66089164	ASL	V277M, V303M	Argininosuccinate lyase deficiency	Uncertain significance (Apr 21, 2021)	criteria provided, single submitter
Select item 214265540.	NM_000048.4(ASL):c.1185G>C (p.Val395=) GRCh37: Chr7:65557585 GRCh38: Chr7:66092598	ASL		Argininosuccinate lyase deficiency	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 213915841.	NM_000048.4(ASL):c.452G>A (p.Arg151His) GRCh37: Chr7:65551577 GRCh38: Chr7:66086590	ASL	R151H	Argininosuccinate lyase deficiency	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 213743342.	NM_000048.4(ASL):c.717G>A (p.Val239=) GRCh37: Chr7:65552777 GRCh38: Chr7:66087790	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 213654743.	NM_000048.4(ASL):c.1267G>C (p.Asp423His) GRCh37: Chr7:65557771 GRCh38: Chr7:66092784	ASL	D403H, D397H, D423H	Argininosuccinate lyase deficiency	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 213654644.	NM_000048.4(ASL):c.1154G>T (p.Arg385Leu) GRCh37: Chr7:65557554 GRCh38: Chr7:66092567	ASL	R365L, R385L, R359L	Argininosuccinate lyase deficiency	Likely pathogenic (Feb 6, 2022)	criteria provided, single submitter
Select item 213337545.	NM_000048.4(ASL):c.1206G>A (p.Gly402=) GRCh37: Chr7:65557606 GRCh38: Chr7:66092619	ASL		Argininosuccinate lyase deficiency	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 212832246.	NM_000048.4(ASL):c.446+1G>C GRCh37: Chr7:65548162 GRCh38: Chr7:66083175	ASL		Argininosuccinate lyase deficiency	Pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 212380847.	NM_000048.4(ASL):c.280_281insTGAAG (p.Arg94fs) GRCh37: Chr7:65547427-65547428 GRCh38: Chr7:66082440-66082441	ASL	R94fs	Argininosuccinate lyase deficiency	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 212180048.	NM_000048.4(ASL):c.1296C>T (p.His432=) GRCh37: Chr7:65557800 GRCh38: Chr7:66092813	ASL		Argininosuccinate lyase deficiency	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 212068449.	NM_000048.4(ASL):c.1215C>T (p.Leu405=) GRCh37: Chr7:65557615 GRCh38: Chr7:66092628	ASL		Argininosuccinate lyase deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 211357350.	NM_000048.4(ASL):c.385T>A (p.Cys129Ser) GRCh37: Chr7:65548100 GRCh38: Chr7:66083113	ASL	C129S	Argininosuccinate lyase deficiency	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 211042051.	NM_000048.4(ASL):c.388T>C (p.Ser130Pro) GRCh37: Chr7:65548103 GRCh38: Chr7:66083116	ASL	S130P	Argininosuccinate lyase deficiency	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 210631252.	NM_000048.4(ASL):c.447-10T>C GRCh37: Chr7:65551562 GRCh38: Chr7:66086575	ASL		Argininosuccinate lyase deficiency	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 210600053.	NM_000048.4(ASL):c.348+8dup GRCh37: Chr7:65547930-65547931 GRCh38: Chr7:66082943-66082944	ASL		Argininosuccinate lyase deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210398754.	NM_000048.4(ASL):c.562C>T (p.Leu188=) GRCh37: Chr7:65551768 GRCh38: Chr7:66086781	ASL		Argininosuccinate lyase deficiency	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 210246555.	NM_000048.4(ASL):c.406del (p.Leu136fs) GRCh37: Chr7:65548120 GRCh38: Chr7:66083133	ASL	L136fs	Argininosuccinate lyase deficiency	Pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 209325156.	NM_000048.4(ASL):c.231_243del (p.Phe79fs) GRCh37: Chr7:65547377-65547389 GRCh38: Chr7:66082390-66082402	ASL	F79fs	Argininosuccinate lyase deficiency	Pathogenic (Nov 22, 2021)	criteria provided, single submitter
Select item 209289357.	NM_000048.4(ASL):c.564G>A (p.Leu188=) GRCh37: Chr7:65551770 GRCh38: Chr7:66086783	ASL		Argininosuccinate lyase deficiency	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 209245058.	NM_000048.4(ASL):c.18G>A (p.Gly6=) GRCh37: Chr7:65546795 GRCh38: Chr7:66081808	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 209150959.	NM_000048.4(ASL):c.208-5T>C GRCh37: Chr7:65547350 GRCh38: Chr7:66082363	ASL		Argininosuccinate lyase deficiency	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 208907260.	NM_000048.4(ASL):c.13-19T>C GRCh37: Chr7:65546771 GRCh38: Chr7:66081784	ASL		Argininosuccinate lyase deficiency	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 208573161.	NM_000048.4(ASL):c.976C>T (p.Gln326Ter) GRCh37: Chr7:65554320 GRCh38: Chr7:66089333	ASL	Q300, Q326	Argininosuccinate lyase deficiency	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 208417362.	NM_000048.4(ASL):c.888C>T (p.Ile296=) GRCh37: Chr7:65554132 GRCh38: Chr7:66089145	ASL		Argininosuccinate lyase deficiency	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 207793363.	NM_000048.4(ASL):c.99C>A (p.His33Gln) GRCh37: Chr7:65546876 GRCh38: Chr7:66081889	ASL	H33Q	Argininosuccinate lyase deficiency	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 206693964.	NM_000048.4(ASL):c.767T>C (p.Met256Thr) GRCh37: Chr7:65553842 GRCh38: Chr7:66088855	ASL	M230T, M256T	Argininosuccinate lyase deficiency	Likely pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 206131565.	NM_000048.4(ASL):c.909G>A (p.Val303=) GRCh37: Chr7:65554153 GRCh38: Chr7:66089166	ASL		Argininosuccinate lyase deficiency	Likely benign (Dec 26, 2021)	criteria provided, single submitter
Select item 205563166.	NM_000048.4(ASL):c.834-9T>C GRCh37: Chr7:65554069 GRCh38: Chr7:66089082	ASL		Argininosuccinate lyase deficiency	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 204606567.	NM_000048.4(ASL):c.1063-10G>A GRCh37: Chr7:65556983 GRCh38: Chr7:66091996	ASL		Argininosuccinate lyase deficiency	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 204347168.	NM_000048.4(ASL):c.834-20G>T GRCh37: Chr7:65554058 GRCh38: Chr7:66089071	ASL		Argininosuccinate lyase deficiency	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 204242669.	NM_000048.4(ASL):c.1368G>A (p.Arg456=) GRCh37: Chr7:65557872 GRCh38: Chr7:66092885	ASL		Argininosuccinate lyase deficiency	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 203565570.	NM_000048.4(ASL):c.603-7C>G GRCh37: Chr7:65552314 GRCh38: Chr7:66087327	ASL		Argininosuccinate lyase deficiency	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 203058671.	NM_000048.4(ASL):c.656-6C>T GRCh37: Chr7:65552710 GRCh38: Chr7:66087723	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 203053572.	NM_000048.4(ASL):c.465C>T (p.Phe155=) GRCh37: Chr7:65551590 GRCh38: Chr7:66086603	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203016373.	NM_000048.4(ASL):c.309G>C (p.Thr103=) GRCh37: Chr7:65547884 GRCh38: Chr7:66082897	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 202986174.	NM_000048.4(ASL):c.1374A>G (p.Leu458=) GRCh37: Chr7:65557878 GRCh38: Chr7:66092891	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202531475.	NM_000048.4(ASL):c.990A>G (p.Glu330=) GRCh37: Chr7:65554610 GRCh38: Chr7:66089623	ASL		Argininosuccinate lyase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202318476.	NM_000048.4(ASL):c.681C>T (p.Leu227=) GRCh37: Chr7:65552741 GRCh38: Chr7:66087754	ASL		Argininosuccinate lyase deficiency	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 201939277.	NM_000048.4(ASL):c.1063-3del GRCh37: Chr7:65556986 GRCh38: Chr7:66091999	ASL		Argininosuccinate lyase deficiency	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 201647178.	NM_000048.4(ASL):c.12+8G>A GRCh37: Chr7:65541088 GRCh38: Chr7:66076101	ASL		Argininosuccinate lyase deficiency	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201282579.	NM_000048.4(ASL):c.736G>A (p.Ala246Thr) GRCh37: Chr7:65553811 GRCh38: Chr7:66088824	ASL	A246T, A220T	Argininosuccinate lyase deficiency	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201116880.	NM_000048.4(ASL):c.656-12C>T GRCh37: Chr7:65552704 GRCh38: Chr7:66087717	ASL		Argininosuccinate lyase deficiency	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 201085681.	NM_000048.4(ASL):c.963C>T (p.Tyr321=) GRCh37: Chr7:65554307 GRCh38: Chr7:66089320	ASL		Argininosuccinate lyase deficiency	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 200615182.	NM_000048.4(ASL):c.252T>C (p.Asn84=) GRCh37: Chr7:65547399 GRCh38: Chr7:66082412	ASL		Argininosuccinate lyase deficiency	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200577783.	NM_000048.4(ASL):c.58del (p.Ile20fs) GRCh37: Chr7:65546835 GRCh38: Chr7:66081848	ASL	I20fs	Argininosuccinate lyase deficiency	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 200473484.	NM_000048.4(ASL):c.398C>G (p.Ser133Trp) GRCh37: Chr7:65548113 GRCh38: Chr7:66083126	ASL	S133W	Argininosuccinate lyase deficiency	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 200464885.	NM_000048.4(ASL):c.723G>C (p.Glu241Asp) GRCh37: Chr7:65553798 GRCh38: Chr7:66088811	ASL	E215D, E241D	Argininosuccinate lyase deficiency	Likely pathogenic (Jun 18, 2022)	criteria provided, single submitter
Select item 199154486.	NM_000048.4(ASL):c.291+3A>G GRCh37: Chr7:65547441 GRCh38: Chr7:66082454	ASL		Argininosuccinate lyase deficiency	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 199134487.	NM_000048.4(ASL):c.1354A>T (p.Ile452Phe) GRCh37: Chr7:65557858 GRCh38: Chr7:66092871	ASL	I426F, I432F, I452F	Argininosuccinate lyase deficiency	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 199051888.	NM_000048.4(ASL):c.1371G>T (p.Ala457=) GRCh37: Chr7:65557875 GRCh38: Chr7:66092888	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 197962589.	NM_000048.4(ASL):c.1279G>A (p.Val427Met) GRCh37: Chr7:65557783 GRCh38: Chr7:66092796	ASL	V427M, V401M, V407M	Argininosuccinate lyase deficiency	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 197276090.	NM_000048.4(ASL):c.1366C>A (p.Arg456=) GRCh37: Chr7:65557870 GRCh38: Chr7:66092883	ASL		Argininosuccinate lyase deficiency	Likely benign (Jan 5, 2022)	criteria provided, single submitter
Select item 196828391.	NM_000048.4(ASL):c.919-12C>T GRCh37: Chr7:65554251 GRCh38: Chr7:66089264	ASL		Argininosuccinate lyase deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 196416392.	NM_000048.4(ASL):c.1049T>C (p.Ile350Thr) GRCh37: Chr7:65554669 GRCh38: Chr7:66089682	ASL	I330T, I324T, I350T	Argininosuccinate lyase deficiency	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 195857193.	NM_000048.4(ASL):c.467C>A (p.Pro156Gln) GRCh37: Chr7:65551592 GRCh38: Chr7:66086605	ASL	P156Q	Argininosuccinate lyase deficiency	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 195505594.	NM_000048.4(ASL):c.302G>A (p.Gly101Asp) GRCh37: Chr7:65547877 GRCh38: Chr7:66082890	ASL	G101D	Argininosuccinate lyase deficiency	Likely pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 195091795.	NM_000048.4(ASL):c.492C>T (p.Ala164=) GRCh37: Chr7:65551617 GRCh38: Chr7:66086630	ASL		Argininosuccinate lyase deficiency	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 194995996.	NM_000048.4(ASL):c.849G>A (p.Leu283=) GRCh37: Chr7:65554093 GRCh38: Chr7:66089106	ASL		Argininosuccinate lyase deficiency	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 194928197.	NM_000048.4(ASL):c.918+8A>G GRCh37: Chr7:65554170 GRCh38: Chr7:66089183	ASL		Argininosuccinate lyase deficiency	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 194604198.	NM_000048.4(ASL):c.229G>C (p.Gly77Arg) GRCh37: Chr7:65547376 GRCh38: Chr7:66082389	ASL	G77R	Argininosuccinate lyase deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 194229699.	NM_000048.4(ASL):c.656-6C>A GRCh37: Chr7:65552710 GRCh38: Chr7:66087723	ASL		Argininosuccinate lyase deficiency	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 1935470100.	NM_000048.4(ASL):c.697A>T (p.Thr233Ser) GRCh37: Chr7:65552757 GRCh38: Chr7:66087770	ASL	T233S, T207S	Argininosuccinate lyase deficiency	Uncertain significance (Nov 22, 2021)	criteria provided, single submitter

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