ClinVar for MedGen (Select 340091) - ClinVar

Links from MedGen

Items: 54

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24420091.	NM_014251.3(SLC25A13):c.1452+5C>G GRCh37: Chr7:95775863 GRCh38: Chr7:96146551	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 17066162.	NM_014251.3(SLC25A13):c.1474C>T (p.Arg492Trp) GRCh37: Chr7:95761172 GRCh38: Chr7:96131860	SLC25A13	R492W, R493W	Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic	no assertion criteria provided
Select item 16954003.	NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCA GRCh37: Chr7:95751061-95751062 GRCh38: Chr7:96121749-96121750	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 16953994.	NM_014251.3(SLC25A13):c.70-63_132del GRCh37: Chr7:95906588-95906713 GRCh38: Chr7:96277276-96277401	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Jun 30, 2022)	no assertion criteria provided
Select item 16953985.	NM_014251.3(SLC25A13):c.[1956C>A;1962del] GRCh37: Chr7:95750575 Chr7:95750569 GRCh38: Chr7:96121263 Chr7:96121257	SLC25A13, SLC25A13	N652K, N653K, F654fs, F655fs	Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 14519206.	NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys) GRCh37: Chr7:95820421 GRCh38: Chr7:96191109	SLC25A13	E252K	Citrin deficiency, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset	Pathogenic/Likely pathogenic (Sep 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13881837.	NM_014251.3(SLC25A13):c.1453-2A>T GRCh37: Chr7:95761195 GRCh38: Chr7:96131883	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset, Citrin deficiency	Pathogenic (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13619478.	NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter) GRCh37: Chr7:95906593 GRCh38: Chr7:96277281	SLC25A13	R43*	Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset, not provided	Pathogenic/Likely pathogenic (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13480039.	NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg) GRCh37: Chr7:95751264 GRCh38: Chr7:96121952	SLC25A13	T546R, T547R	Citrin deficiency, not provided, Citrullinemia, type II, adult-onset, Neonatal intrahepatic cholestasis due to citrin deficiency	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120979410.	NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr) GRCh37: Chr7:95906647 GRCh38: Chr7:96277335	SLC25A13	A25T	Citrullinemia, type II, adult-onset, Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120722011.	NM_014251.3(SLC25A13):c.1157G>C (p.Gly386Ala) GRCh37: Chr7:95813609 GRCh38: Chr7:96184297	SLC25A13	G386A, G387A	Citrullinemia, type II, adult-onset, Neonatal intrahepatic cholestasis due to citrin deficiency, not provided	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98443712.	NM_014251.3(SLC25A13):c.69+5G>A GRCh37: Chr7:95926205 GRCh38: Chr7:96296893	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 96711613.	NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) GRCh37: Chr7:95775900 GRCh38: Chr7:96146588	SLC25A13	V474M, V475M	not provided, Citrullinemia, type II, adult-onset, Citrin deficiency, not specified, Neonatal intrahepatic cholestasis due to citrin deficiency	Uncertain significance (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93909814.	NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter) GRCh37: Chr7:95775921 GRCh38: Chr7:96146609	SLC25A13	R467, R468	not provided, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency	Pathogenic (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85037915.	NM_014251.3(SLC25A13):c.848+3A>C GRCh37: Chr7:95818890 GRCh38: Chr7:96189578	SLC25A13		Citrullinemia, type II, adult-onset, Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Jul 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 85024416.	NM_014251.3(SLC25A13):c.1453-1G>A GRCh37: Chr7:95761194 GRCh38: Chr7:96131882	SLC25A13		Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency, SLC25A13-related condition	Pathogenic (Dec 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84965617.	NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe) GRCh37: Chr7:95906585 GRCh38: Chr7:96277273	SLC25A13	L45F	Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency	Conflicting interpretations of pathogenicity (Jun 30, 2022)	criteria provided, conflicting interpretations
Select item 81345718.	NM_014251.3(SLC25A13):c.699del (p.Arg234fs) GRCh37: Chr7:95820476 GRCh38: Chr7:96191164	SLC25A13	R234fs	Neonatal intrahepatic cholestasis due to citrin deficiency	Likely pathogenic	criteria provided, single submitter
Select item 81345619.	NM_014251.3(SLC25A13):c.1121del (p.Ser374fs) GRCh37: Chr7:95813645 GRCh38: Chr7:96184333	SLC25A13	S375fs, S374fs	Neonatal intrahepatic cholestasis due to citrin deficiency	Likely pathogenic	criteria provided, single submitter
Select item 81345520.	NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met) GRCh37: Chr7:95799437 GRCh38: Chr7:96170125	SLC25A13	V411M, V412M	Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic/Likely pathogenic (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81345421.	NM_014251.3(SLC25A13):c.1336A>C (p.Thr446Pro) GRCh37: Chr7:95775984 GRCh38: Chr7:96146672	SLC25A13	T446P, T447P	Neonatal intrahepatic cholestasis due to citrin deficiency	Likely pathogenic	criteria provided, single submitter
Select item 59656822.	NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn) GRCh37: Chr7:95906535 GRCh38: Chr7:96277223	SLC25A13	S62N	Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency, Citrullinemia, type II, adult-onset, not provided	Uncertain significance (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 59080423.	NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter) GRCh37: Chr7:95822471 GRCh38: Chr7:96193159	SLC25A13	Q165*	Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Jun 7, 2017)	no assertion criteria provided
Select item 59080324.	NM_014251.3(SLC25A13):c.1664_1665insAGATTACAGGTGGCTGCCCGGGG (p.Gln556fs) GRCh37: Chr7:95751236-95751237 GRCh38: Chr7:96121924-96121925	SLC25A13	Q557fs, Q556fs	Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Jun 7, 2017)	no assertion criteria provided
Select item 58760025.	NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn) GRCh37: Chr7:95799401 GRCh38: Chr7:96170089	SLC25A13	D423N, D424N	not provided, Inborn genetic diseases, Citrin deficiency, Citrullinemia type II, Neonatal intrahepatic cholestasis due to citrin deficiency	Uncertain significance (Aug 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49868726.	NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln) GRCh37: Chr7:95750994 GRCh38: Chr7:96121682	SLC25A13	R605Q, R606Q	Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset, Citrin deficiency, not provided	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 41794727.	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 36103128.	NM_014251.3(SLC25A13):c.-115G>T GRCh37: Chr7:95951383 GRCh38: Chr7:96322071	LOC129998833, SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia, type II, adult-onset, Citrullinemia type I, Citrullinemia type II	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36101829.	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 26037130.	NM_014251.3(SLC25A13):c.328+6A>G GRCh37: Chr7:95864108 GRCh38: Chr7:96234796	SLC25A13		Citrullinemia type I, Neonatal intrahepatic cholestasis due to citrin deficiency, not specified, not provided, Citrullinemia type II, Citrullinemia, type II, adult-onset, Citrin deficiency	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26037031.	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 25292432.	NM_014251.3(SLC25A13):c.495del (p.Ala166fs) GRCh37: Chr7:95822469 GRCh38: Chr7:96193157	SLC25A13	A166fs	Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Jan 31, 2013)	no assertion criteria provided
Select item 25292333.	NM_014251.3(SLC25A13):c.616-11A>G GRCh37: Chr7:95820570 GRCh38: Chr7:96191258	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency	Uncertain significance (Jan 22, 2010)	no assertion criteria provided
Select item 25292234.	NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=) GRCh37: Chr7:95799357 GRCh38: Chr7:96170045	SLC25A13		Citrin deficiency	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 25292135.	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 25292036.	NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) GRCh37: Chr7:95818966 GRCh38: Chr7:96189654	SLC25A13	Q259*	Citrin deficiency	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 25291937.	NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg) GRCh37: Chr7:95750573 GRCh38: Chr7:96121261	SLC25A13	K653R, K654R	Neonatal intrahepatic cholestasis due to citrin deficiency	Uncertain significance (Jul 14, 2016)	no assertion criteria provided
Select item 22547238.	NM_014251.3(SLC25A13):c.852_855del (p.Met285fs) GRCh37: Chr7:95818684-95818687 GRCh38: Chr7:96189372-96189375	SLC25A13	M285fs	Citrin deficiency, Citrullinemia type II, SLC25A13-related condition, not provided, Citrullinemia, type II, adult-onset, Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Dec 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 20393839.	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 19337140.	NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) GRCh37: Chr7:95951267 GRCh38: Chr7:96321955	LOC129998833, SLC25A13	M1T	Citrullinemia, type II, adult-onset, Citrin deficiency, not specified, not provided, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II, Citrullinemia type I	Conflicting interpretations of pathogenicity (Feb 15, 2023)	criteria provided, conflicting interpretations
Select item 9211041.	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 2151742.	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 2151643.	NM_014251.3(SLC25A13):c.615+1G>C GRCh37: Chr7:95822348 GRCh38: Chr7:96193036	SLC25A13		Neonatal intrahepatic cholestasis due to citrin deficiency	not provided	no assertion provided
Select item 2151544.	NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter) GRCh37: Chr7:95822414 GRCh38: Chr7:96193102	SLC25A13	R184*	Citrullinemia, type II, adult-onset, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrin deficiency, not provided, Neonatal intrahepatic cholestasis due to citrin deficiency	Pathogenic (Nov 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2151445.	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 2151346.	NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter) GRCh37: Chr7:95751007 GRCh38: Chr7:96121695	SLC25A13	E601, E602	Citrin deficiency	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 2151247.	NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys) GRCh37: Chr7:95751007 GRCh38: Chr7:96121695	SLC25A13	E601K, E602K	Citrin deficiency	Likely pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 2151048.	NM_014251.3(SLC25A13):c.15G>A (p.Lys5=) GRCh37: Chr7:95951254 GRCh38: Chr7:96321942	LOC129998833, SLC25A13		Citrin deficiency	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 2150949.	NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp) GRCh37: Chr7:95751309 GRCh38: Chr7:96121997	SLC25A13	G531D, G532D	Citrin deficiency	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 600750.	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 600651.	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 600452.	NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter) GRCh37: Chr7:95820501 GRCh38: Chr7:96191189	SLC25A13	S225*	Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency, Citrullinemia type II	Pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 600353.	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 600254.	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

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 54