ClinVar for MedGen (Select 350276) - ClinVar

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Items: 84

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25770981.	NM_014251.3(SLC25A13):c.103A>G (p.Met35Val) GRCh37: Chr7:95906617 GRCh38: Chr7:96277305	SLC25A13	M35V	Citrullinemia type II	Likely pathogenic (Jul 27, 2023)	criteria provided, single submitter
Select item 25040512.	NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu) GRCh37: Chr7:95799360-95799361 GRCh38: Chr7:96170048-96170049	SLC25A13	G436E, G437E	Citrullinemia type II	Likely pathogenic (Apr 26, 2023)	criteria provided, single submitter
Select item 16963103.	NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter) GRCh37: Chr7:95800804 GRCh38: Chr7:96171492	SLC25A13	E404, E405	Citrullinemia type II	Likely pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 9347094.	NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met) GRCh37: Chr7:95751264 GRCh38: Chr7:96121952	SLC25A13	T546M, T547M	Citrin deficiency, Citrullinemia type II	Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9122835.	NM_014251.2(SLC25A13):c.-205G>T GRCh37: Chr7:95951473 GRCh38: Chr7:96322161	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9122826.	NM_014251.2(SLC25A13):c.-203C>A GRCh37: Chr7:95951471 GRCh38: Chr7:96322159	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9122817.	NM_014251.3(SLC25A13):c.-99C>A GRCh37: Chr7:95951367 GRCh38: Chr7:96322055	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9122188.	NM_014251.3(SLC25A13):c.1419C>T (p.Val473=) GRCh37: Chr7:95775901 GRCh38: Chr7:96146589	SLC25A13		Citrin deficiency, Citrullinemia type II	Conflicting interpretations of pathogenicity (Jul 23, 2022)	criteria provided, conflicting interpretations
Select item 9121529.	NM_014251.3(SLC25A13):c.*881T>G GRCh37: Chr7:95749622 GRCh38: Chr7:96120310	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91104610.	NM_014251.3(SLC25A13):c.16-4A>G GRCh37: Chr7:95926267 GRCh38: Chr7:96296955	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91104511.	NM_014251.3(SLC25A13):c.90C>T (p.Asn30=) GRCh37: Chr7:95906630 GRCh38: Chr7:96277318	SLC25A13		Citrin deficiency, Citrullinemia type II	Conflicting interpretations of pathogenicity (Oct 21, 2021)	criteria provided, conflicting interpretations
Select item 91098812.	NM_014251.3(SLC25A13):c.1823A>G (p.Tyr608Cys) GRCh37: Chr7:95750985 GRCh38: Chr7:96121673	SLC25A13	Y608C, Y609C	Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91016013.	NM_014251.3(SLC25A13):c.508C>T (p.Arg170Trp) GRCh37: Chr7:95822456 GRCh38: Chr7:96193144	SLC25A13	R170W	Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91015914.	NM_014251.3(SLC25A13):c.633A>C (p.Thr211=) GRCh37: Chr7:95820542 GRCh38: Chr7:96191230	SLC25A13		Citrin deficiency, Citrullinemia type II	Conflicting interpretations of pathogenicity (Jul 2, 2022)	criteria provided, conflicting interpretations
Select item 91015815.	NM_014251.3(SLC25A13):c.701G>C (p.Arg234Thr) GRCh37: Chr7:95820474 GRCh38: Chr7:96191162	SLC25A13	R234T	Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91009616.	NM_014251.3(SLC25A13):c.*40C>T GRCh37: Chr7:95750463 GRCh38: Chr7:96121151	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91009517.	NM_014251.3(SLC25A13):c.*93G>A GRCh37: Chr7:95750410 GRCh38: Chr7:96121098	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91009418.	NM_014251.3(SLC25A13):c.*280G>T GRCh37: Chr7:95750223 GRCh38: Chr7:96120911	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90821419.	NM_014251.3(SLC25A13):c.1019-6T>C GRCh37: Chr7:95813753 GRCh38: Chr7:96184441	SLC25A13		Citrullinemia type II, Citrin deficiency	Conflicting interpretations of pathogenicity (May 19, 2021)	criteria provided, conflicting interpretations
Select item 90814320.	NM_014251.3(SLC25A13):c.*622C>T GRCh37: Chr7:95749881 GRCh38: Chr7:96120569	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90814221.	NM_014251.3(SLC25A13):c.*750T>C GRCh37: Chr7:95749753 GRCh38: Chr7:96120441	SLC25A13		Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 85583522.	NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn) GRCh37: Chr7:95813718 GRCh38: Chr7:96184406	SLC25A13	D351N, D350N	Citrullinemia type II, Citrin deficiency	Pathogenic (Mar 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 75178123.	NM_014251.3(SLC25A13):c.666A>C (p.Gly222=) GRCh37: Chr7:95820509 GRCh38: Chr7:96191197	SLC25A13		Citrin deficiency, Citrullinemia type II	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 70330724.	NM_014251.3(SLC25A13):c.408A>G (p.Leu136=) GRCh37: Chr7:95838210 GRCh38: Chr7:96208898	SLC25A13		Citrin deficiency, Citrullinemia type II	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 69798725.	NM_014251.3(SLC25A13):c.1374G>A (p.Val458=) GRCh37: Chr7:95775946 GRCh38: Chr7:96146634	SLC25A13		Citrin deficiency, Citrullinemia type II, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63251326.	NM_014251.3(SLC25A13):c.1916del (p.Gly639fs) GRCh37: Chr7:95750615 GRCh38: Chr7:96121303	SLC25A13	G639fs, G640fs	Citrullinemia type II	Uncertain significance (Jun 23, 2017)	criteria provided, single submitter
Select item 59770027.	NM_014251.3(SLC25A13):c.635C>T (p.Ser212Phe) GRCh37: Chr7:95820540 GRCh38: Chr7:96191228	SLC25A13	S212F	not provided, Citrullinemia type II	Uncertain significance (Jun 25, 2018)	criteria provided, multiple submitters, no conflicts
Select item 59715228.	NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln) GRCh37: Chr7:95751243 GRCh38: Chr7:96121931	SLC25A13	R553Q, R554Q	Citrin deficiency, not provided, Citrullinemia type II	Uncertain significance (Feb 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59609229.	NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) GRCh37: Chr7:95775966 GRCh38: Chr7:96146654	SLC25A13	V452I, V453I	not provided, Citrin deficiency, Citrullinemia, type II, adult-onset, Citrullinemia type II	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 59541130.	NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile) GRCh37: Chr7:95818951 GRCh38: Chr7:96189639	SLC25A13	V264I	Citrin deficiency, not specified, Citrullinemia type II, not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 58760031.	NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn) GRCh37: Chr7:95799401 GRCh38: Chr7:96170089	SLC25A13	D423N, D424N	Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency, not provided	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50194632.	NM_014251.3(SLC25A13):c.571C>T (p.Arg191Cys) GRCh37: Chr7:95822393 GRCh38: Chr7:96193081	SLC25A13	R191C	Citrullinemia type II, not provided	Uncertain significance (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 44939433.	NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter) GRCh37: Chr7:95813703 GRCh38: Chr7:96184391	SLC25A13	R355, R356	Citrin deficiency, Citrullinemia type II, not provided	Conflicting interpretations of pathogenicity (Sep 3, 2022)	criteria provided, conflicting interpretations
Select item 41794734.	NM_014251.3(SLC25A13):c.468+1G>C GRCh37: Chr7:95838149 GRCh38: Chr7:96208837	SLC25A13		Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency	Likely pathogenic (Jun 30, 2016)	no assertion criteria provided
Select item 36103335.	NM_014251.2(SLC25A13):c.-160C>T GRCh37: Chr7:95951428 GRCh38: Chr7:96322116	SLC25A13		Citrullinemia type II, Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36103236.	NM_014251.3(SLC25A13):c.-127G>A GRCh37: Chr7:95951395 GRCh38: Chr7:96322083	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36103137.	NM_014251.3(SLC25A13):c.-115G>T GRCh37: Chr7:95951383 GRCh38: Chr7:96322071	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset, Citrullinemia type II, Citrullinemia type I	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36103038.	NM_014251.3(SLC25A13):c.-107G>A GRCh37: Chr7:95951375 GRCh38: Chr7:96322063	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36102839.	NM_014251.3(SLC25A13):c.-10G>A GRCh37: Chr7:95951278 GRCh38: Chr7:96321966	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36102740.	NM_014251.3(SLC25A13):c.6G>T (p.Ala2=) GRCh37: Chr7:95951263 GRCh38: Chr7:96321951	SLC25A13		Citrin deficiency, Citrullinemia type I, Citrullinemia type II	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 36102641.	NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys) GRCh37: Chr7:95838197 GRCh38: Chr7:96208885	SLC25A13	E141K	Citrullinemia type II, Citrin deficiency, Citrullinemia type I	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36102542.	NM_014251.3(SLC25A13):c.675G>A (p.Ser225=) GRCh37: Chr7:95820500 GRCh38: Chr7:96191188	SLC25A13		Citrin deficiency, not specified, Citrullinemia type I, Citrullinemia type II	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36102443.	NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=) GRCh37: Chr7:95820464 GRCh38: Chr7:96191152	SLC25A13		Citrin deficiency, Citrullinemia type II, Citrullinemia type I	Conflicting interpretations of pathogenicity (May 25, 2022)	criteria provided, conflicting interpretations
Select item 36102244.	NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val) GRCh37: Chr7:95813678 GRCh38: Chr7:96184366	SLC25A13	G363V, G364V	Inborn genetic diseases, Citrin deficiency, Citrullinemia type II, Citrullinemia type I	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 36102145.	NM_014251.3(SLC25A13):c.1177+5G>A GRCh37: Chr7:95813584 GRCh38: Chr7:96184272	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36102046.	NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=) GRCh37: Chr7:95800784 GRCh38: Chr7:96171472	SLC25A13		Citrin deficiency, not provided, Citrullinemia type II, Citrullinemia type I	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 36101947.	NM_014251.3(SLC25A13):c.1230+11T>C GRCh37: Chr7:95800773 GRCh38: Chr7:96171461	SLC25A13		Citrullinemia type II, Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36101848.	NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) GRCh37: Chr7:95799393 GRCh38: Chr7:96170081	SLC25A13		Citrin deficiency, not provided, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type I	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 36101749.	NM_014251.3(SLC25A13):c.1311+3A>G GRCh37: Chr7:95799354 GRCh38: Chr7:96170042	SLC25A13		Citrullinemia type II, Citrin deficiency, not provided, Citrullinemia type I	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 36101550.	NM_014251.3(SLC25A13):c.1313C>T (p.Ala438Val) GRCh37: Chr7:95776007 GRCh38: Chr7:96146695	SLC25A13	A438V, A439V	Citrullinemia type II, Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36101451.	NM_014251.3(SLC25A13):c.1393G>T (p.Gly465Cys) GRCh37: Chr7:95775927 GRCh38: Chr7:96146615	SLC25A13	G465C, G466C	Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36101352.	NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=) GRCh37: Chr7:95751230 GRCh38: Chr7:96121918	SLC25A13		Citrin deficiency, Citrullinemia type I, Citrullinemia type II, not specified, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36101253.	NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=) GRCh37: Chr7:95751011 GRCh38: Chr7:96121699	SLC25A13		Citrin deficiency, Citrullinemia type I, Citrullinemia type II	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 36101154.	NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=) GRCh37: Chr7:95750647 GRCh38: Chr7:96121335	SLC25A13		Citrin deficiency, not provided, Citrullinemia type I, Citrullinemia type II	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36101055.	NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg) GRCh37: Chr7:95750586 GRCh38: Chr7:96121274	SLC25A13	G649R, G650R	Inborn genetic diseases, Citrin deficiency, not provided, Citrullinemia type I, Citrullinemia type II	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36100956.	NM_014251.3(SLC25A13):c.*72G>A GRCh37: Chr7:95750431 GRCh38: Chr7:96121119	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36100857.	NM_014251.3(SLC25A13):c.*175A>G GRCh37: Chr7:95750328 GRCh38: Chr7:96121016	SLC25A13		Citrullinemia type I, not provided, Citrullinemia type II	Benign/Likely benign (Sep 14, 2019)	criteria provided, multiple submitters, no conflicts
Select item 36100758.	NM_014251.3(SLC25A13):c.*191T>C GRCh37: Chr7:95750312 GRCh38: Chr7:96121000	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36100659.	NM_014251.3(SLC25A13):c.*310C>T GRCh37: Chr7:95750193 GRCh38: Chr7:96120881	SLC25A13		Citrullinemia type II, Citrullinemia type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36100560.	NM_014251.3(SLC25A13):c.*330G>T GRCh37: Chr7:95750173 GRCh38: Chr7:96120861	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36100461.	NM_014251.3(SLC25A13):c.*507T>C GRCh37: Chr7:95749996 GRCh38: Chr7:96120684	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36100362.	NM_014251.3(SLC25A13):c.*517A>G GRCh37: Chr7:95749986 GRCh38: Chr7:96120674	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36100263.	NM_014251.3(SLC25A13):c.*570G>A GRCh37: Chr7:95749933 GRCh38: Chr7:96120621	SLC25A13		Citrullinemia type I, Citrullinemia type II	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 36100164.	NM_014251.3(SLC25A13):c.*729G>A GRCh37: Chr7:95749774 GRCh38: Chr7:96120462	SLC25A13		Citrullinemia type I, Citrullinemia type II	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36100065.	NM_014251.3(SLC25A13):c.*792C>T GRCh37: Chr7:95749711 GRCh38: Chr7:96120399	SLC25A13		Citrullinemia type I, Citrullinemia type II	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 36099966.	NM_014251.3(SLC25A13):c.*909C>G GRCh37: Chr7:95749594 GRCh38: Chr7:96120282	SLC25A13		Citrullinemia type II, Citrullinemia type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29007667.	NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=) GRCh37: Chr7:95751221 GRCh38: Chr7:96121909	SLC25A13		not specified, Citrin deficiency, not provided, Citrullinemia type II	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 26037168.	NM_014251.3(SLC25A13):c.328+6A>G GRCh37: Chr7:95864108 GRCh38: Chr7:96234796	SLC25A13		not provided, Citrullinemia type I, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset, Citrin deficiency, not specified	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26037069.	NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) GRCh37: Chr7:95800820 GRCh38: Chr7:96171508	SLC25A13		Citrullinemia, type II, adult-onset, Citrin deficiency, not specified, not provided, Citrullinemia type I, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25292170.	NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) GRCh37: Chr7:95761141 GRCh38: Chr7:96131829	SLC25A13	P502L, P503L	Citrin deficiency, not provided, Citrullinemia type II	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 22547271.	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) GRCh37: Chr7:95818684-95818687 GRCh38: Chr7:96189372-96189375	SLC25A13	M285fs	Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset, not provided, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency	Pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20393872.	NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) GRCh37: Chr7:95750621 GRCh38: Chr7:96121309	SLC25A13	V637A, V638A	Citrin deficiency, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, not provided, Citrullinemia type II, Citrullinemia type I	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 19440373.	NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=) GRCh37: Chr7:95775886 GRCh38: Chr7:96146574	SLC25A13		Citrin deficiency, not specified, not provided, Citrullinemia type II	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 19337174.	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) GRCh37: Chr7:95951267 GRCh38: Chr7:96321955	SLC25A13	M1T	Citrin deficiency, Citrullinemia, type II, adult-onset, not specified, not provided, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type I	Conflicting interpretations of pathogenicity (Feb 15, 2023)	criteria provided, conflicting interpretations
Select item 9211075.	NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln) GRCh37: Chr7:95813702 GRCh38: Chr7:96184390	SLC25A13	R355Q, R356Q	Citrin deficiency, Citrullinemia type II, Citrullinemia type I	Conflicting interpretations of pathogenicity (May 17, 2023)	criteria provided, conflicting interpretations
Select item 2151776.	NM_014251.3(SLC25A13):c.615+5G>A GRCh37: Chr7:95822344 GRCh38: Chr7:96193032	SLC25A13		Citrin deficiency, Citrullinemia type II, not provided, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic/Likely pathogenic (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2151477.	NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter) GRCh37: Chr7:95750995 GRCh38: Chr7:96121683	SLC25A13	R605, R606	Citrin deficiency, not provided, Citrullinemia type II, Citrullinemia, type II, adult-onset, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic/Likely pathogenic (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2150878.	NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter) GRCh37: Chr7:95813688 GRCh38: Chr7:96184376	SLC25A13	R360, R361	Citrin deficiency, Citrullinemia type II	Pathogenic/Likely pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 600779.	NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln) GRCh37: Chr7:95751045 GRCh38: Chr7:96121733	SLC25A13	R588Q, R589Q	Inborn genetic diseases, not provided, Neonatal intrahepatic cholestasis due to citrin deficiency	Conflicting interpretations of pathogenicity (Jun 30, 2022)	criteria provided, conflicting interpretations
Select item 600680.	NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter) GRCh37: Chr7:95751008-95751009 GRCh38: Chr7:96121696-96121697	SLC25A13	Y600, Y601	Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 600581.	NM_014251.3(SLC25A13):c.1311+1G>A GRCh37: Chr7:95799356 GRCh38: Chr7:96170044	SLC25A13		Citrin deficiency	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 600482.	NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) GRCh37: Chr7:95820501 GRCh38: Chr7:96191189	SLC25A13	S225*	Citrin deficiency, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 600383.	NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs) GRCh37: Chr7:95751240-95751241 GRCh38: Chr7:96121928-96121929	SLC25A13	A555fs, A554fs	Citrin deficiency, not provided, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 600284.	NM_014251.3(SLC25A13):c.1177+1G>A GRCh37: Chr7:95813588 GRCh38: Chr7:96184276	SLC25A13		Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II	Pathogenic (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 84