ClinVar for MedGen (Select 1648491) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24392681.	NM_054012.4(ASS1):c.590A>G (p.Asn197Ser) GRCh37: Chr9:133346895 GRCh38: Chr9:130471508	ASS1	N197S	Citrullinemia type I	Uncertain significance (Dec 29, 2022)	criteria provided, single submitter
Select item 18022132.	NM_054012.4(ASS1):c.66del (p.Trp23fs) GRCh37: Chr9:133327681 GRCh38: Chr9:130452294	ASS1	W23fs	Citrullinemia type I	Likely pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 17263503.	NM_054012.4(ASS1):c.130_132delinsA (p.Phe44fs) GRCh37: Chr9:133329716-133329718 GRCh38: Chr9:130454329-130454331	ASS1	F44fs	Citrullinemia type I	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 17258184.	NM_054012.4(ASS1):c.1042A>T (p.Lys348Ter) GRCh37: Chr9:133370325 GRCh38: Chr9:130494938	ASS1	K348*	Citrullinemia type I	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 17254885.	NM_054012.4(ASS1):c.620_622delinsT (p.Tyr207fs) GRCh37: Chr9:133352280-133352282 GRCh38: Chr9:130476893-130476895	ASS1	Y207fs	Citrullinemia type I	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 17246536.	NM_054012.4(ASS1):c.844_850del (p.Tyr282fs) GRCh37: Chr9:133364725-133364731 GRCh38: Chr9:130489338-130489344	ASS1	Y282fs	Citrullinemia type I	Likely pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 17243837.	NM_054012.4(ASS1):c.493A>T (p.Lys165Ter) GRCh37: Chr9:133342184 GRCh38: Chr9:130466797	ASS1	K165*	Citrullinemia type I	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 17241968.	NM_054012.4(ASS1):c.432_433del (p.Trp145fs) GRCh37: Chr9:133342123-133342124 GRCh38: Chr9:130466736-130466737	ASS1	W145fs	Citrullinemia type I	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 17239969.	NM_054012.4(ASS1):c.620_622delinsCT (p.Tyr207fs) GRCh37: Chr9:133352280-133352282 GRCh38: Chr9:130476893-130476895	ASS1	Y207fs	Citrullinemia type I	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 168757510.	NM_054012.4(ASS1):c.105+5G>A GRCh37: Chr9:133327725 GRCh38: Chr9:130452338	ASS1		Citrullinemia type I	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 148411411.	NM_054012.4(ASS1):c.363G>A (p.Lys121=) GRCh37: Chr9:133333976 GRCh38: Chr9:130458589	ASS1		Citrullinemia, Citrullinemia type I	Uncertain significance (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136618712.	NM_054012.4(ASS1):c.490G>A (p.Ala164Thr) GRCh37: Chr9:133342181 GRCh38: Chr9:130466794	ASS1	A164T	Citrullinemia type I, Citrullinemia	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133949913.	NM_054012.4(ASS1):c.364-2A>G GRCh37: Chr9:133339496 GRCh38: Chr9:130464109	ASS1		Citrullinemia type I	Pathogenic	criteria provided, single submitter
Select item 132394914.	NM_054012.4(ASS1):c.904A>G (p.Met302Val) GRCh37: Chr9:133364785 GRCh38: Chr9:130489398	ASS1	M302V	not specified, Citrullinemia type I	Conflicting interpretations of pathogenicity (Aug 13, 2022)	criteria provided, conflicting interpretations
Select item 132394815.	NM_054012.4(ASS1):c.571G>T (p.Glu191Ter) GRCh37: Chr9:133346876 GRCh38: Chr9:130471489	ASS1	E191*	Citrullinemia type I	Likely pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 126345116.	NM_054012.4(ASS1):c.175-1233G>A GRCh37: Chr9:133332555 GRCh38: Chr9:130457168	ASS1		not provided	Benign (Jun 29, 2018)	criteria provided, single submitter
Select item 124420517.	NM_054012.4(ASS1):c.175-1129A>G GRCh37: Chr9:133332659 GRCh38: Chr9:130457272	ASS1		not provided	Benign (Aug 15, 2018)	criteria provided, single submitter
Select item 121035618.	NM_054012.4(ASS1):c.830_831del (p.Lys277fs) GRCh37: Chr9:133355828-133355829 GRCh38: Chr9:130480441-130480442	ASS1	K277fs	Citrullinemia type I	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 121035519.	NM_054012.4(ASS1):c.1018A>T (p.Lys340Ter) GRCh37: Chr9:133370301 GRCh38: Chr9:130494914	ASS1	K340*	Citrullinemia type I	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 119592220.	NM_054012.4(ASS1):c.439A>C (p.Met147Leu) GRCh37: Chr9:133342130 GRCh38: Chr9:130466743	ASS1	M147L	Citrullinemia type I	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119592121.	NM_054012.4(ASS1):c.748C>T (p.Leu250Phe) GRCh37: Chr9:133355162 GRCh38: Chr9:130479775	ASS1	L250F	Citrullinemia type I	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119592022.	NM_054012.4(ASS1):c.115G>C (p.Gly39Arg) GRCh37: Chr9:133329701 GRCh38: Chr9:130454314	ASS1	G39R	Citrullinemia, not provided, Citrullinemia type I	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119233323.	NM_054012.4(ASS1):c.566+88C>T GRCh37: Chr9:133346379 GRCh38: Chr9:130470992	ASS1		Citrullinemia type I, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117700824.	NM_054012.4(ASS1):c.495+84A>C GRCh37: Chr9:133342270 GRCh38: Chr9:130466883	ASS1		not provided, Citrullinemia type I	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117700725.	NM_054012.4(ASS1):c.105+115G>A GRCh37: Chr9:133327835 GRCh38: Chr9:130452448	ASS1		Citrullinemia type I, not provided	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 107899326.	NM_054012.4(ASS1):c.549G>A (p.Glu183=) GRCh37: Chr9:133346274 GRCh38: Chr9:130470887	ASS1		Citrullinemia	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 106823727.	NM_054012.4(ASS1):c.839-2A>T GRCh37: Chr9:133364718 GRCh38: Chr9:130489331	ASS1		Citrullinemia	Likely pathogenic (Aug 7, 2020)	criteria provided, single submitter
Select item 106105028.	NM_054012.4(ASS1):c.295G>A (p.Ala99Thr) GRCh37: Chr9:133333908 GRCh38: Chr9:130458521	ASS1	A99T	Citrullinemia	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 104707729.	NM_054012.4(ASS1):c.151G>A (p.Ala51Thr) GRCh37: Chr9:133329737 GRCh38: Chr9:130454350	ASS1	A51T	Citrullinemia	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 102688630.	NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys) GRCh37: Chr9:133364846 GRCh38: Chr9:130489459	ASS1	Y322C	Citrullinemia	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 102053831.	NM_054012.4(ASS1):c.533C>T (p.Pro178Leu) GRCh37: Chr9:133346258 GRCh38: Chr9:130470871	ASS1	P178L	Citrullinemia, Citrullinemia type I	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101945732.	NM_054012.4(ASS1):c.970+4C>T GRCh37: Chr9:133364855 GRCh38: Chr9:130489468	ASS1		Citrullinemia	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 99906133.	NM_054012.4(ASS1):c.247T>C (p.Tyr83His) GRCh37: Chr9:133333860 GRCh38: Chr9:130458473	ASS1	Y83H	Citrullinemia	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 99561634.	NM_054012.4(ASS1):c.838+38= GRCh37: Chr9:133355874 GRCh38: Chr9:130480487	ASS1		Citrullinemia type I	Benign (Jan 2, 2020)	criteria provided, single submitter
Select item 99561535.	NM_054012.4(ASS1):c.597+18= GRCh37: Chr9:133346920 GRCh38: Chr9:130471533	ASS1		Citrullinemia type I	Benign (Jan 2, 2020)	criteria provided, single submitter
Select item 99561436.	NM_054012.4(ASS1):c.496-36C>T GRCh37: Chr9:133346185 GRCh38: Chr9:130470798	ASS1		Citrullinemia type I, not provided	Benign (Oct 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 99352337.	NM_054012.4(ASS1):c.774-28G>T GRCh37: Chr9:133355744 GRCh38: Chr9:130480357	ASS1		not provided, Citrullinemia type I	Benign/Likely benign (Apr 13, 2020)	criteria provided, multiple submitters, no conflicts
Select item 99352238.	NM_054012.4(ASS1):c.773+23G>T GRCh37: Chr9:133355210 GRCh38: Chr9:130479823	ASS1		Citrullinemia type I, not provided	Benign/Likely benign (May 31, 2020)	criteria provided, multiple submitters, no conflicts
Select item 99303739.	NM_054012.4(ASS1):c.479T>C (p.Leu160Pro) GRCh37: Chr9:133342170 GRCh38: Chr9:130466783	ASS1	L160P	Citrullinemia type I	Pathogenic (Oct 11, 2020)	no assertion criteria provided
Select item 99133440.	NM_054012.4(ASS1):c.969C>T (p.Thr323=) GRCh37: Chr9:133364850 GRCh38: Chr9:130489463	ASS1		Citrullinemia type I	Uncertain significance (Nov 10, 2020)	no assertion criteria provided
Select item 99133341.	NM_054012.4(ASS1):c.771C>T (p.Val257=) GRCh37: Chr9:133355185 GRCh38: Chr9:130479798	ASS1		Citrullinemia	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 99133242.	NM_054012.4(ASS1):c.294C>A (p.Ile98=) GRCh37: Chr9:133333907 GRCh38: Chr9:130458520	ASS1		Citrullinemia	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 97347143.	NM_054012.4(ASS1):c.830A>G (p.Lys277Arg) GRCh37: Chr9:133355828 GRCh38: Chr9:130480441	ASS1	K277R	Citrullinemia type I	Pathogenic (Apr 1, 2020)	no assertion criteria provided
Select item 97174244.	NM_054012.4(ASS1):c.142A>G (p.Arg48Gly) GRCh37: Chr9:133329728 GRCh38: Chr9:130454341	ASS1	R48G	Citrullinemia	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 97082245.	NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) GRCh37: Chr9:133364792 GRCh38: Chr9:130489405	ASS1	R304Q	Citrullinemia	Likely pathogenic (Oct 19, 2022)	criteria provided, single submitter
Select item 96727846.	NM_054012.4(ASS1):c.772G>A (p.Ala258Thr) GRCh37: Chr9:133355186 GRCh38: Chr9:130479799	ASS1	A258T	Citrullinemia	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 96655247.	NM_054012.4(ASS1):c.556A>G (p.Met186Val) GRCh37: Chr9:133346281 GRCh38: Chr9:130470894	ASS1	M186V	Citrullinemia	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 96503548.	NM_054012.4(ASS1):c.351C>T (p.Gly117=) GRCh37: Chr9:133333964 GRCh38: Chr9:130458577	ASS1		Citrullinemia	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 95777249.	NM_054012.4(ASS1):c.623C>G (p.Thr208Arg) GRCh37: Chr9:133352283 GRCh38: Chr9:130476896	ASS1	T208R	Citrullinemia	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 94888850.	NM_054012.4(ASS1):c.712G>A (p.Val238Ile) GRCh37: Chr9:133355126 GRCh38: Chr9:130479739	ASS1	V238I	Citrullinemia	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 93898151.	NM_054012.4(ASS1):c.710A>G (p.Asn237Ser) GRCh37: Chr9:133355124 GRCh38: Chr9:130479737	ASS1	N237S	Citrullinemia, Inborn genetic diseases	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93374252.	NM_054012.4(ASS1):c.63C>A (p.Leu21=) GRCh37: Chr9:133327678 GRCh38: Chr9:130452291	ASS1		Citrullinemia	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 92863853.	NM_054012.4(ASS1):c.420+1G>T GRCh37: Chr9:133339555 GRCh38: Chr9:130464168	ASS1		Citrullinemia type I	Likely pathogenic (Sep 6, 2019)	criteria provided, single submitter
Select item 91471554.	NM_054012.4(ASS1):c.564C>T (p.Ile188=) GRCh37: Chr9:133346289 GRCh38: Chr9:130470902	ASS1		Citrullinemia type I, Citrullinemia	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 91468055.	NM_054012.3(ASS1):c.-300G>C GRCh37: Chr9:133320088 GRCh38: Chr9:130444701	ASS1		Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91427256.	NM_054012.4(ASS1):c.*244T>C GRCh37: Chr9:133376652 GRCh38: Chr9:130501265	ASS1		Citrullinemia type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91427157.	NM_054012.4(ASS1):c.*110C>T GRCh37: Chr9:133376518 GRCh38: Chr9:130501131	ASS1		Citrullinemia type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91422758.	NM_054012.4(ASS1):c.174+11G>A GRCh37: Chr9:133329771 GRCh38: Chr9:130454384	ASS1		Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91312659.	NM_054012.4(ASS1):c.1074G>A (p.Val358=) GRCh37: Chr9:133370357 GRCh38: Chr9:130494970	ASS1		Citrullinemia type I, Citrullinemia	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 91308160.	NM_054012.4(ASS1):c.-5-12G>A GRCh37: Chr9:133327599 GRCh38: Chr9:130452212	ASS1		Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91308061.	NM_054012.3(ASS1):c.-175G>A GRCh37: Chr9:133320213 GRCh38: Chr9:130444826	ASS1		Citrullinemia type I	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91271262.	NM_054012.3(ASS1):c.-217G>T GRCh37: Chr9:133320171 GRCh38: Chr9:130444784	ASS1		Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91271163.	NM_054012.3(ASS1):c.-278G>T GRCh37: Chr9:133320110 GRCh38: Chr9:130444723	ASS1		Citrullinemia type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 86053164.	NM_054012.4(ASS1):c.827T>C (p.Met276Thr) GRCh37: Chr9:133355825 GRCh38: Chr9:130480438	ASS1	M276T	Citrullinemia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84792465.	NM_054012.4(ASS1):c.175-1119G>A GRCh37: Chr9:133332669 GRCh38: Chr9:130457282	ASS1		Citrullinemia type I, Citrullinemia	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84461966.	NM_054012.4(ASS1):c.314T>G (p.Ile105Ser) GRCh37: Chr9:133333927 GRCh38: Chr9:130458540	ASS1	I105S	Citrullinemia	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 84395167.	NM_054012.4(ASS1):c.1051G>A (p.Val351Met) GRCh37: Chr9:133370334 GRCh38: Chr9:130494947	ASS1	V351M	Citrullinemia	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 84295668.	NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) GRCh37: Chr9:133370274 GRCh38: Chr9:130494887	ASS1	C331R	not specified, Citrullinemia	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84076869.	NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter) GRCh37: Chr9:133364727 GRCh38: Chr9:130489340	ASS1	Y282*	Citrullinemia type I, Citrullinemia	Pathogenic/Likely pathogenic (Dec 9, 2020)	criteria provided, multiple submitters, no conflicts
Select item 83275470.	NC_000009.12:g.(?_130489323)_(130489474_?)del GRCh37: Chr9:133364710-133364861	ASS1		Citrullinemia, Citrullinemia type I	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 83046871.	NC_000009.12:g.(?_130479706)_(130480459_?)del GRCh37: Chr9:133355093-133355846	ASS1		Citrullinemia type I	Likely pathogenic (Jun 10, 2019)	criteria provided, single submitter
Select item 81346372.	NM_054012.4(ASS1):c.1075del (p.Tyr359fs) GRCh37: Chr9:133370358 GRCh38: Chr9:130494971	ASS1	Y359fs	Citrullinemia type I	Likely pathogenic	criteria provided, single submitter
Select item 81346273.	NM_054012.4(ASS1):c.774-2A>G GRCh37: Chr9:133355770 GRCh38: Chr9:130480383	ASS1		Citrullinemia, Citrullinemia type I	Pathogenic/Likely pathogenic (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81346174.	NM_054012.4(ASS1):c.759C>A (p.Tyr253Ter) GRCh37: Chr9:133355173 GRCh38: Chr9:130479786	ASS1	Y253*	Citrullinemia type I	Likely pathogenic	criteria provided, single submitter
Select item 81346075.	NM_054012.4(ASS1):c.689-2A>C GRCh37: Chr9:133355101 GRCh38: Chr9:130479714	ASS1		Citrullinemia, Citrullinemia type I	Pathogenic/Likely pathogenic (Dec 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81341076.	NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) GRCh37: Chr9:133352307 GRCh38: Chr9:130476920	ASS1	A216D	Citrullinemia, not specified, Citrullinemia type I	Conflicting interpretations of pathogenicity (Feb 9, 2022)	criteria provided, conflicting interpretations
Select item 81340977.	NM_054012.4(ASS1):c.484dup (p.Glu162fs) GRCh37: Chr9:133342173-133342174 GRCh38: Chr9:130466786-130466787	ASS1	E162fs	Citrullinemia, Citrullinemia type I	Pathogenic (Mar 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 81340878.	NM_054012.4(ASS1):c.469C>T (p.Arg157Cys) GRCh37: Chr9:133342160 GRCh38: Chr9:130466773	ASS1	R157C	Citrullinemia, Citrullinemia type I	Pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81340779.	NM_054012.4(ASS1):c.421-2A>C GRCh37: Chr9:133342110 GRCh38: Chr9:130466723	ASS1		Citrullinemia type I	Likely pathogenic	no assertion criteria provided
Select item 81340680.	NM_054012.4(ASS1):c.352G>A (p.Ala118Thr) GRCh37: Chr9:133333965 GRCh38: Chr9:130458578	ASS1	A118T	Citrullinemia, Inborn genetic diseases, Citrullinemia type I	Pathogenic (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81340581.	NM_054012.4(ASS1):c.350G>A (p.Gly117Asp) GRCh37: Chr9:133333963 GRCh38: Chr9:130458576	ASS1	G117D	Citrullinemia, Citrullinemia type I	Pathogenic/Likely pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81340482.	NM_054012.4(ASS1):c.262del (p.Leu88fs) GRCh37: Chr9:133333874 GRCh38: Chr9:130458487	ASS1	L88fs	Citrullinemia type I	Likely pathogenic	criteria provided, single submitter
Select item 80251983.	NM_054012.4(ASS1):c.597+81A>G GRCh37: Chr9:133346983 GRCh38: Chr9:130471596	ASS1		not provided, Citrullinemia type I	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80233884.	NM_014251.3(SLC25A13):c.848+1G>T GRCh37: Chr7:95818892 GRCh38: Chr7:96189580	SLC25A13		Citrullinemia type I, Citrin deficiency	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77254585.	NM_054012.4(ASS1):c.1083C>T (p.Leu361=) GRCh37: Chr9:133370366 GRCh38: Chr9:130494979	ASS1		Citrullinemia, Citrullinemia type I	Conflicting interpretations of pathogenicity (Oct 16, 2022)	criteria provided, conflicting interpretations
Select item 75011686.	NM_054012.4(ASS1):c.39C>T (p.Gly13=) GRCh37: Chr9:133327654 GRCh38: Chr9:130452267	ASS1		Citrullinemia, Citrullinemia type I	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 73830787.	NM_054012.4(ASS1):c.1014C>T (p.Ile338=) GRCh37: Chr9:133370297 GRCh38: Chr9:130494910	ASS1		Citrullinemia	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 73624788.	NM_054012.4(ASS1):c.411C>T (p.Pro137=) GRCh37: Chr9:133339545 GRCh38: Chr9:130464158	ASS1		Citrullinemia	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 71901389.	NM_054012.4(ASS1):c.261C>T (p.Tyr87=) GRCh37: Chr9:133333874 GRCh38: Chr9:130458487	ASS1		Citrullinemia	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 71238690.	NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) GRCh37: Chr9:133374929 GRCh38: Chr9:130499542	ASS1	T389A	Citrullinemia, Citrullinemia type I	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 70263791.	NM_054012.4(ASS1):c.175-4G>A GRCh37: Chr9:133333784 GRCh38: Chr9:130458397	ASS1		Citrullinemia, Citrullinemia type I	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 70234392.	NM_054012.4(ASS1):c.1056C>T (p.Ser352=) GRCh37: Chr9:133370339 GRCh38: Chr9:130494952	ASS1		Citrullinemia, Citrullinemia type I	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 68331793.	NM_054012.4(ASS1):c.597+178G>A GRCh37: Chr9:133347080 GRCh38: Chr9:130471693	ASS1		not provided, Citrullinemia type I	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 68329794.	NM_054012.4(ASS1):c.-5-172T>C GRCh37: Chr9:133327439 GRCh38: Chr9:130452052	ASS1		not provided, Citrullinemia type I	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 67942795.	NM_054012.4(ASS1):c.622A>G (p.Thr208Ala) GRCh37: Chr9:133352282 GRCh38: Chr9:130476895	ASS1	T208A	Citrullinemia, Inborn genetic diseases, not provided	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66300696.	NM_054012.4(ASS1):c.955G>A (p.Glu319Lys) GRCh37: Chr9:133364836 GRCh38: Chr9:130489449	ASS1	E319K	Citrullinemia	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 64906897.	NC_000009.12:g.(?_130452214)_(130454383_?)del GRCh37: Chr9:133327601-133329770 GRCh38: Chr9:130452214-130454383	ASS1		Citrullinemia type I	Pathogenic (Sep 1, 2019)	criteria provided, single submitter
Select item 64584298.	NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) GRCh37: Chr9:133374930 GRCh38: Chr9:130499543	ASS1	T389I	Citrullinemia	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 63304799.	NM_054012.4(ASS1):c.460_467del (p.Phe154fs) GRCh37: Chr9:133342149-133342156 GRCh38: Chr9:130466762-130466769	ASS1	F154fs	Citrullinemia, Citrullinemia type I	Pathogenic/Likely pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 632537100.	NM_054012.4(ASS1):c.773+4_773+31dup GRCh37: Chr9:133355188-133355189 GRCh38: Chr9:130479801-130479802	ASS1		Citrullinemia, Citrullinemia type I	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations

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