ClinVar for MedGen (Select 104491) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25010871.	NM_054012.4(ASS1):c.815G>A (p.Arg272His) GRCh37: Chr9:133355813 GRCh38: Chr9:130480426	ASS1	R272H	Citrullinemia	Pathogenic (Mar 14, 2023)	criteria provided, single submitter
Select item 24459112.	NM_054012.4(ASS1):c.1194-19_1197dup GRCh37: Chr9:133376341-133376342 GRCh38: Chr9:130500954-130500955	ASS1		Citrullinemia	Likely pathogenic (Feb 20, 2023)	criteria provided, single submitter
Select item 24222103.	NC_000009.11:g.(?_133339488)_(133339564_?)del GRCh37: Chr9:133339488-133339564	ASS1		Citrullinemia	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 24222094.	NC_000009.11:g.(?_133340833)_(133342151_?)del GRCh37: Chr9:133340833-133342151	ASS1		Citrullinemia	Likely pathogenic (Jun 16, 2022)	criteria provided, single submitter
Select item 24222075.	NC_000009.11:g.(?_133319094)_(133377661_?)del GRCh37: Chr9:133319094-133377661	ASS1		Citrullinemia	Pathogenic (Oct 6, 2022)	criteria provided, single submitter
Select item 24186816.	NM_054012.4(ASS1):c.1194-9G>T GRCh37: Chr9:133376354 GRCh38: Chr9:130500967	ASS1		Citrullinemia	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 24158377.	NM_054012.4(ASS1):c.496-7C>G GRCh37: Chr9:133346214 GRCh38: Chr9:130470827	ASS1		Citrullinemia	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 24158328.	NM_054012.4(ASS1):c.199G>A (p.Glu67Lys) GRCh37: Chr9:133333812 GRCh38: Chr9:130458425	ASS1	E67K	Citrullinemia	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 21998839.	NM_054012.4(ASS1):c.760C>T (p.Leu254=) GRCh37: Chr9:133355174 GRCh38: Chr9:130479787	ASS1		Citrullinemia	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 219793310.	NM_054012.4(ASS1):c.1128-12C>T GRCh37: Chr9:133374880 GRCh38: Chr9:130499493	ASS1		Citrullinemia	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 219598311.	NM_054012.4(ASS1):c.174+18G>A GRCh37: Chr9:133329778 GRCh38: Chr9:130454391	ASS1		Citrullinemia	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 218299412.	NM_054012.4(ASS1):c.502G>A (p.Gly168Arg) GRCh37: Chr9:133346227 GRCh38: Chr9:130470840	ASS1	G168R	Citrullinemia	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 218175413.	NM_054012.4(ASS1):c.774-7C>T GRCh37: Chr9:133355765 GRCh38: Chr9:130480378	ASS1		Citrullinemia	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 218071014.	NM_054012.4(ASS1):c.696T>C (p.Pro232=) GRCh37: Chr9:133355110 GRCh38: Chr9:130479723	ASS1		Citrullinemia	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 217740715.	NM_054012.4(ASS1):c.16T>G (p.Ser6Ala) GRCh37: Chr9:133327631 GRCh38: Chr9:130452244	ASS1	S6A	Citrullinemia	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 217278916.	NM_054012.4(ASS1):c.175-7C>A GRCh37: Chr9:133333781 GRCh38: Chr9:130458394	ASS1		Citrullinemia	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 216755817.	NM_054012.4(ASS1):c.653A>G (p.Asn218Ser) GRCh37: Chr9:133352313 GRCh38: Chr9:130476926	ASS1	N218S	Citrullinemia	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 216718418.	NM_054012.4(ASS1):c.323G>A (p.Arg108Gln) GRCh37: Chr9:133333936 GRCh38: Chr9:130458549	ASS1	R108Q	Citrullinemia	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 216586919.	NM_054012.4(ASS1):c.567-6C>G GRCh37: Chr9:133346866 GRCh38: Chr9:130471479	ASS1		Citrullinemia	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216490320.	NM_054012.4(ASS1):c.774-4A>G GRCh37: Chr9:133355768 GRCh38: Chr9:130480381	ASS1		Citrullinemia	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 215322921.	NM_054012.4(ASS1):c.839-7T>C GRCh37: Chr9:133364713 GRCh38: Chr9:130489326	ASS1		Citrullinemia	Likely benign (Aug 7, 2022)	criteria provided, single submitter
Select item 215317722.	NM_054012.4(ASS1):c.601C>G (p.Gln201Glu) GRCh37: Chr9:133352261 GRCh38: Chr9:130476874	ASS1	Q201E	Citrullinemia	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 215053023.	NM_054012.4(ASS1):c.495+11G>C GRCh37: Chr9:133342197 GRCh38: Chr9:130466810	ASS1		Citrullinemia	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 214888724.	NM_054012.4(ASS1):c.1128-20A>G GRCh37: Chr9:133374872 GRCh38: Chr9:130499485	ASS1		Citrullinemia	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 214645625.	NM_054012.4(ASS1):c.1153C>G (p.Pro385Ala) GRCh37: Chr9:133374917 GRCh38: Chr9:130499530	ASS1	P385A	Citrullinemia	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 214631626.	NM_054012.4(ASS1):c.65T>G (p.Val22Gly) GRCh37: Chr9:133327680 GRCh38: Chr9:130452293	ASS1	V22G	Citrullinemia	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 214379827.	NM_054012.4(ASS1):c.133G>A (p.Glu45Lys) GRCh37: Chr9:133329719 GRCh38: Chr9:130454332	ASS1	E45K	Citrullinemia	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 214089228.	NM_054012.4(ASS1):c.838+12C>T GRCh37: Chr9:133355848 GRCh38: Chr9:130480461	ASS1		Citrullinemia	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214087429.	NM_054012.4(ASS1):c.1193+7A>G GRCh37: Chr9:133374964 GRCh38: Chr9:130499577	ASS1		Citrullinemia	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 214071430.	NM_054012.4(ASS1):c.896C>A (p.Ala299Asp) GRCh37: Chr9:133364777 GRCh38: Chr9:130489390	ASS1	A299D	Citrullinemia	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 213963831.	NM_054012.4(ASS1):c.138_139del (p.Glu46fs) GRCh37: Chr9:133329724-133329725 GRCh38: Chr9:130454337-130454338	ASS1	E46fs	Citrullinemia	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 213682432.	NM_054012.4(ASS1):c.773+2dup GRCh37: Chr9:133355188-133355189 GRCh38: Chr9:130479801-130479802	ASS1		Citrullinemia	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 213682333.	NM_054012.4(ASS1):c.710A>T (p.Asn237Ile) GRCh37: Chr9:133355124 GRCh38: Chr9:130479737	ASS1	N237I	Citrullinemia	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 213682234.	NM_054012.4(ASS1):c.285_286delinsTT (p.Arg95_Pro96delinsSerSer) GRCh37: Chr9:133333898-133333899 GRCh38: Chr9:130458511-130458512	ASS1		Citrullinemia	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 213682135.	NM_054012.4(ASS1):c.271A>C (p.Thr91Pro) GRCh37: Chr9:133333884 GRCh38: Chr9:130458497	ASS1	T91P	Citrullinemia	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 213583236.	NM_054012.4(ASS1):c.567-6C>A GRCh37: Chr9:133346866 GRCh38: Chr9:130471479	ASS1		Citrullinemia	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 213400937.	NM_054012.4(ASS1):c.462C>T (p.Phe154=) GRCh37: Chr9:133342153 GRCh38: Chr9:130466766	ASS1		Citrullinemia	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 213400438.	NM_054012.4(ASS1):c.537G>A (p.Trp179Ter) GRCh37: Chr9:133346262 GRCh38: Chr9:130470875	ASS1	W179*	Citrullinemia	Pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 213082639.	NM_054012.4(ASS1):c.619T>C (p.Tyr207His) GRCh37: Chr9:133352279 GRCh38: Chr9:130476892	ASS1	Y207H	Citrullinemia	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 213056140.	NM_054012.4(ASS1):c.456C>T (p.Asn152=) GRCh37: Chr9:133342147 GRCh38: Chr9:130466760	ASS1		Citrullinemia	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212863441.	NM_054012.4(ASS1):c.646G>A (p.Ala216Thr) GRCh37: Chr9:133352306 GRCh38: Chr9:130476919	ASS1	A216T	Citrullinemia	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212559942.	NM_054012.4(ASS1):c.1104T>C (p.Ser368=) GRCh37: Chr9:133370387 GRCh38: Chr9:130495000	ASS1		Citrullinemia	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212234243.	NM_054012.4(ASS1):c.617T>A (p.Leu206His) GRCh37: Chr9:133352277 GRCh38: Chr9:130476890	ASS1	L206H	Citrullinemia	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 211873544.	NM_054012.4(ASS1):c.1128-4G>A GRCh37: Chr9:133374888 GRCh38: Chr9:130499501	ASS1		Citrullinemia	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211112145.	NM_054012.4(ASS1):c.1162G>T (p.Ala388Ser) GRCh37: Chr9:133374926 GRCh38: Chr9:130499539	ASS1	A388S	Citrullinemia	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 211010546.	NM_054012.4(ASS1):c.895_896delinsTT (p.Ala299Phe) GRCh37: Chr9:133364776-133364777 GRCh38: Chr9:130489389-130489390	ASS1	A299F	Citrullinemia	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 210925947.	NM_054012.4(ASS1):c.106-15G>C GRCh37: Chr9:133329677 GRCh38: Chr9:130454290	ASS1		Citrullinemia	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210747448.	NM_054012.4(ASS1):c.790G>A (p.Gly264Ser) GRCh37: Chr9:133355788 GRCh38: Chr9:130480401	ASS1	G264S	Citrullinemia	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 210730949.	NM_054012.4(ASS1):c.1194G>C (p.Arg398Ser) GRCh37: Chr9:133376363 GRCh38: Chr9:130500976	ASS1	R398S	Citrullinemia	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 210582950.	NM_054012.4(ASS1):c.106-5C>T GRCh37: Chr9:133329687 GRCh38: Chr9:130454300	ASS1		Citrullinemia	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 210421551.	NM_054012.4(ASS1):c.603A>G (p.Gln201=) GRCh37: Chr9:133352263 GRCh38: Chr9:130476876	ASS1		Citrullinemia	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210250752.	NM_054012.4(ASS1):c.300C>T (p.Arg100=) GRCh37: Chr9:133333913 GRCh38: Chr9:130458526	ASS1		Citrullinemia	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 210247653.	NM_054012.4(ASS1):c.264C>T (p.Leu88=) GRCh37: Chr9:133333877 GRCh38: Chr9:130458490	ASS1		Citrullinemia	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 210131854.	NM_054012.4(ASS1):c.882T>C (p.His294=) GRCh37: Chr9:133364763 GRCh38: Chr9:130489376	ASS1		Citrullinemia	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 209401855.	NM_054012.4(ASS1):c.420+3A>G GRCh37: Chr9:133339557 GRCh38: Chr9:130464170	ASS1		Citrullinemia	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 209201256.	NM_054012.4(ASS1):c.579A>G (p.Gly193=) GRCh37: Chr9:133346884 GRCh38: Chr9:130471497	ASS1		Citrullinemia	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 209105157.	NM_054012.4(ASS1):c.651C>A (p.Pro217=) GRCh37: Chr9:133352311 GRCh38: Chr9:130476924	ASS1		Citrullinemia	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 208760958.	NM_054012.4(ASS1):c.1060del (p.Leu354fs) GRCh37: Chr9:133370342 GRCh38: Chr9:130494955	ASS1	L354fs	Citrullinemia	Pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 208235959.	NM_054012.4(ASS1):c.891C>A (p.Ile297=) GRCh37: Chr9:133364772 GRCh38: Chr9:130489385	ASS1		Citrullinemia	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 208117260.	NM_054012.4(ASS1):c.773+4A>C GRCh37: Chr9:133355191 GRCh38: Chr9:130479804	ASS1		Citrullinemia	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 207109861.	NM_054012.4(ASS1):c.258C>T (p.Arg86=) GRCh37: Chr9:133333871 GRCh38: Chr9:130458484	ASS1		Citrullinemia	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 207043162.	NM_054012.4(ASS1):c.516G>C (p.Pro172=) GRCh37: Chr9:133346241 GRCh38: Chr9:130470854	ASS1		Citrullinemia	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 206882763.	NM_054012.4(ASS1):c.648C>T (p.Ala216=) GRCh37: Chr9:133352308 GRCh38: Chr9:130476921	ASS1		Citrullinemia	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 206597764.	NM_054012.4(ASS1):c.1176C>G (p.Ile392Met) GRCh37: Chr9:133374940 GRCh38: Chr9:130499553	ASS1	I392M	Citrullinemia	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 206271365.	NM_054012.4(ASS1):c.408C>A (p.Ala136=) GRCh37: Chr9:133339542 GRCh38: Chr9:130464155	ASS1		Citrullinemia	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 206187166.	NM_054012.4(ASS1):c.463A>T (p.Lys155Ter) GRCh37: Chr9:133342154 GRCh38: Chr9:130466767	ASS1	K155*	Citrullinemia	Pathogenic (May 31, 2022)	criteria provided, single submitter
Select item 205283067.	NM_054012.4(ASS1):c.317C>G (p.Ala106Gly) GRCh37: Chr9:133333930 GRCh38: Chr9:130458543	ASS1	A106G	Citrullinemia	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 204604368.	NM_054012.4(ASS1):c.182T>C (p.Ile61Thr) GRCh37: Chr9:133333795 GRCh38: Chr9:130458408	ASS1	I61T	Citrullinemia	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 204013669.	NM_054012.4(ASS1):c.234G>A (p.Gln78=) GRCh37: Chr9:133333847 GRCh38: Chr9:130458460	ASS1		Citrullinemia	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 203583070.	NM_054012.4(ASS1):c.1128-16T>C GRCh37: Chr9:133374876 GRCh38: Chr9:130499489	ASS1		Citrullinemia	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 203470571.	NM_054012.4(ASS1):c.687dup (p.Gly230fs) GRCh37: Chr9:133352341-133352342 GRCh38: Chr9:130476954-130476955	ASS1	G230fs	Citrullinemia	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 203435672.	NM_054012.4(ASS1):c.95_105+4del GRCh37: Chr9:133327709-133327723 GRCh38: Chr9:130452322-130452336	ASS1		Citrullinemia	Likely pathogenic (Jan 10, 2022)	criteria provided, single submitter
Select item 203201573.	NM_054012.4(ASS1):c.363+7C>T GRCh37: Chr9:133333983 GRCh38: Chr9:130458596	ASS1		Citrullinemia	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203165074.	NM_054012.4(ASS1):c.1135G>A (p.Val379Met) GRCh37: Chr9:133374899 GRCh38: Chr9:130499512	ASS1	V379M	Citrullinemia, Inborn genetic diseases	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202956675.	NM_054012.4(ASS1):c.189T>C (p.Asp63=) GRCh37: Chr9:133333802 GRCh38: Chr9:130458415	ASS1		Citrullinemia	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 201697576.	NM_054012.4(ASS1):c.838+23_838+34del GRCh37: Chr9:133355855-133355866 GRCh38: Chr9:130480468-130480479	ASS1		Citrullinemia	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201690877.	NM_054012.4(ASS1):c.625A>G (p.Lys209Glu) GRCh37: Chr9:133352285 GRCh38: Chr9:130476898	ASS1	K209E	Citrullinemia	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 201669478.	NM_054012.4(ASS1):c.897C>T (p.Ala299=) GRCh37: Chr9:133364778 GRCh38: Chr9:130489391	ASS1		Citrullinemia	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 201666679.	NM_054012.4(ASS1):c.827_838+25del GRCh37: Chr9:133355825-133355861 GRCh38: Chr9:130480438-130480474	ASS1		Citrullinemia	Pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 201569380.	NM_054012.4(ASS1):c.420+10G>T GRCh37: Chr9:133339564 GRCh38: Chr9:130464177	ASS1		Citrullinemia	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 200658281.	NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs) GRCh37: Chr9:133370265-133370266 GRCh38: Chr9:130494878-130494879	ASS1	S328fs	Citrullinemia	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 200630382.	NM_054012.4(ASS1):c.459G>T (p.Arg153=) GRCh37: Chr9:133342150 GRCh38: Chr9:130466763	ASS1		Citrullinemia	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 200558883.	NM_054012.4(ASS1):c.1137G>A (p.Val379=) GRCh37: Chr9:133374901 GRCh38: Chr9:130499514	ASS1		Citrullinemia	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200503584.	NM_054012.4(ASS1):c.1149T>C (p.Tyr383=) GRCh37: Chr9:133374913 GRCh38: Chr9:130499526	ASS1		Citrullinemia	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 200300985.	NM_054012.4(ASS1):c.188_189del (p.Asp63fs) GRCh37: Chr9:133333801-133333802 GRCh38: Chr9:130458414-130458415	ASS1	D63fs	Citrullinemia	Pathogenic (Jul 23, 2022)	criteria provided, single submitter
Select item 200137086.	NM_054012.4(ASS1):c.267G>C (p.Leu89=) GRCh37: Chr9:133333880 GRCh38: Chr9:130458493	ASS1		Citrullinemia	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 200089487.	NM_054012.4(ASS1):c.669C>G (p.Leu223=) GRCh37: Chr9:133352329 GRCh38: Chr9:130476942	ASS1		Citrullinemia	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199909788.	NM_054012.4(ASS1):c.420+8G>A GRCh37: Chr9:133339562 GRCh38: Chr9:130464175	ASS1		Citrullinemia	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 199359089.	NM_054012.4(ASS1):c.177G>A (p.Val59=) GRCh37: Chr9:133333790 GRCh38: Chr9:130458403	ASS1		Citrullinemia	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 198357090.	NM_054012.4(ASS1):c.421-14T>C GRCh37: Chr9:133342098 GRCh38: Chr9:130466711	ASS1		Citrullinemia	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 195839491.	NM_054012.4(ASS1):c.597+7C>A GRCh37: Chr9:133346909 GRCh38: Chr9:130471522	ASS1		Citrullinemia	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 195420992.	NM_054012.4(ASS1):c.1025A>C (p.Gln342Pro) GRCh37: Chr9:133370308 GRCh38: Chr9:130494921	ASS1	Q342P	Citrullinemia	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 194513293.	NM_054012.4(ASS1):c.676G>A (p.Glu226Lys) GRCh37: Chr9:133352336 GRCh38: Chr9:130476949	ASS1	E226K	Citrullinemia	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 194493194.	NM_054012.4(ASS1):c.838+19C>T GRCh37: Chr9:133355855 GRCh38: Chr9:130480468	ASS1		Citrullinemia	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 193750895.	NM_054012.4(ASS1):c.871T>C (p.Tyr291His) GRCh37: Chr9:133364752 GRCh38: Chr9:130489365	ASS1	Y291H	Citrullinemia	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 193524096.	NM_054012.4(ASS1):c.853C>T (p.Pro285Ser) GRCh37: Chr9:133364734 GRCh38: Chr9:130489347	ASS1	P285S	Citrullinemia	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 193485297.	NM_054012.4(ASS1):c.378C>G (p.Val126=) GRCh37: Chr9:133339512 GRCh38: Chr9:130464125	ASS1		Citrullinemia	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 192693098.	NM_054012.4(ASS1):c.970+16T>C GRCh37: Chr9:133364867 GRCh38: Chr9:130489480	ASS1		Citrullinemia	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 191681299.	NM_054012.4(ASS1):c.544G>A (p.Asp182Asn) GRCh37: Chr9:133346269 GRCh38: Chr9:130470882	ASS1	D182N	Citrullinemia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 1915729100.	NM_054012.4(ASS1):c.231C>G (p.Ile77Met) GRCh37: Chr9:133333844 GRCh38: Chr9:130458457	ASS1	I77M	Citrullinemia	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter

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