ClinVar for MedGen (Select 365434) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25791281.	NM_000214.3(JAG1):c.2406del (p.Trp803fs) GRCh37: Chr20:10624478 GRCh38: Chr20:10643830	JAG1	W803fs	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Jul 1, 2023)	criteria provided, single submitter
Select item 25750482.	NM_000214.3(JAG1):c.2625del (p.Lys875fs) GRCh37: Chr20:10622488 GRCh38: Chr20:10641840	JAG1	K875fs	Alagille syndrome due to a JAG1 point mutation	Likely pathogenic	no assertion criteria provided
Select item 25730773.	NM_000214.3(JAG1):c.2459-2A>G GRCh37: Chr20:10623251 GRCh38: Chr20:10642603	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely pathogenic (May 25, 2023)	criteria provided, single submitter
Select item 25730144.	NM_000214.3(JAG1):c.695-1G>C GRCh37: Chr20:10637107 GRCh38: Chr20:10656459	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 25725595.	NM_000214.3(JAG1):c.190del (p.Arg64fs) GRCh37: Chr20:10653546 GRCh38: Chr20:10672898	JAG1	R64fs	Alagille syndrome due to a JAG1 point mutation	Likely pathogenic	criteria provided, single submitter
Select item 25064656.	NM_000214.3(JAG1):c.53T>G (p.Leu18Arg) GRCh37: Chr20:10654126 GRCh38: Chr20:10673478	JAG1	L18R	Alagille syndrome due to a JAG1 point mutation	Likely pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 25064037.	NM_000214.3(JAG1):c.3452del (p.Thr1151fs) GRCh37: Chr20:10620351 GRCh38: Chr20:10639703	JAG1	T1151fs	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 24442448.	NM_000214.3(JAG1):c.1713del (p.Cys572fs) GRCh37: Chr20:10628615 GRCh38: Chr20:10647967	JAG1	C572fs	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24419429.	NM_000214.3(JAG1):c.925G>T (p.Gly309Trp) GRCh37: Chr20:10632860 GRCh38: Chr20:10652212	JAG1	G309W	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jun 23, 2021)	criteria provided, single submitter
Select item 243150410.	NM_000214.3(JAG1):c.463G>C (p.Ala155Pro) GRCh37: Chr20:10639347 GRCh38: Chr20:10658699	JAG1	A155P	Alagille syndrome due to a JAG1 point mutation	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 242258811.	NC_000020.10:g.(?_10653329)_(10654278_?)del GRCh37: Chr20:10653329-10654278	JAG1		Alagille syndrome due to a JAG1 point mutation	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 242098612.	NM_000214.3(JAG1):c.2228-12C>T GRCh37: Chr20:10625639 GRCh38: Chr20:10644991	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 241795513.	NM_000214.3(JAG1):c.1654C>T (p.Pro552Ser) GRCh37: Chr20:10628674 GRCh38: Chr20:10648026	JAG1	P552S	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 241739614.	NM_000214.3(JAG1):c.694+20T>A GRCh37: Chr20:10639096 GRCh38: Chr20:10658448	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 241562515.	NM_000214.3(JAG1):c.3390G>A (p.Gly1130=) GRCh37: Chr20:10620413 GRCh38: Chr20:10639765	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 241280516.	NM_000214.3(JAG1):c.2998_3004del (p.Ile1000fs) GRCh37: Chr20:10621805-10621811 GRCh38: Chr20:10641157-10641163	JAG1	I1000fs	Alagille syndrome due to a JAG1 point mutation	Likely pathogenic (Nov 21, 2022)	criteria provided, single submitter
Select item 220259217.	NM_000214.3(JAG1):c.2394G>A (p.Val798=) GRCh37: Chr20:10624490 GRCh38: Chr20:10643842	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 220095218.	NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly) GRCh37: Chr20:10622532 GRCh38: Chr20:10641884	JAG1	R861G	Alagille syndrome due to a JAG1 point mutation	Benign (Jun 22, 2022)	criteria provided, single submitter
Select item 220023919.	NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg) GRCh37: Chr20:10620393 GRCh38: Chr20:10639745	JAG1	K1137R	Alagille syndrome due to a JAG1 point mutation	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 219868620.	NM_000214.3(JAG1):c.151A>G (p.Asn51Asp) GRCh37: Chr20:10653585 GRCh38: Chr20:10672937	JAG1	N51D	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 219846121.	NM_000214.3(JAG1):c.1205C>A (p.Pro402Gln) GRCh37: Chr20:10630924 GRCh38: Chr20:10650276	JAG1	P402Q	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Nov 28, 2021)	criteria provided, single submitter
Select item 219779422.	NM_000214.3(JAG1):c.1007-12del GRCh37: Chr20:10632354 GRCh38: Chr20:10651706	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 219754423.	NM_000214.3(JAG1):c.3505C>T (p.Arg1169Trp) GRCh37: Chr20:10620298 GRCh38: Chr20:10639650	JAG1	R1169W	Alagille syndrome due to a JAG1 point mutation	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 219464124.	NM_000214.3(JAG1):c.1320C>T (p.Pro440=) GRCh37: Chr20:10630198 GRCh38: Chr20:10649550	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 219441325.	NM_000214.3(JAG1):c.373A>G (p.Ser125Gly) GRCh37: Chr20:10653363 GRCh38: Chr20:10672715	JAG1	S125G	Alagille syndrome due to a JAG1 point mutation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 219194626.	NM_000214.3(JAG1):c.171C>A (p.Gly57=) GRCh37: Chr20:10653565 GRCh38: Chr20:10672917	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 219157827.	NM_000214.3(JAG1):c.815T>A (p.Val272Asp) GRCh37: Chr20:10633187 GRCh38: Chr20:10652539	JAG1	V272D	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 219040928.	NM_000214.3(JAG1):c.3531G>T (p.Thr1177=) GRCh37: Chr20:10620272 GRCh38: Chr20:10639624	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 219015629.	NM_000214.3(JAG1):c.2916+18T>C GRCh37: Chr20:10622090 GRCh38: Chr20:10641442	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 218979630.	NM_000214.3(JAG1):c.927G>T (p.Gly309=) GRCh37: Chr20:10632858 GRCh38: Chr20:10652210	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 218978531.	NM_000214.3(JAG1):c.2161T>A (p.Tyr721Asn) GRCh37: Chr20:10625857 GRCh38: Chr20:10645209	JAG1	Y721N	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 218835732.	NM_000214.3(JAG1):c.3009G>A (p.Glu1003=) GRCh37: Chr20:10621800 GRCh38: Chr20:10641152	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 218316133.	NM_000214.3(JAG1):c.219A>G (p.Thr73=) GRCh37: Chr20:10653517 GRCh38: Chr20:10672869	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 218186834.	NM_000214.3(JAG1):c.2372+7G>A GRCh37: Chr20:10624998 GRCh38: Chr20:10644350	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 218013235.	NM_000214.3(JAG1):c.3140C>T (p.Ser1047Leu) GRCh37: Chr20:10621490 GRCh38: Chr20:10640842	JAG1	S1047L	Alagille syndrome due to a JAG1 point mutation	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 217420136.	NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn) GRCh37: Chr20:10620501 GRCh38: Chr20:10639853	JAG1	S1101N	Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation	Conflicting interpretations of pathogenicity (Jan 22, 2023)	criteria provided, conflicting interpretations
Select item 217231537.	NM_000214.3(JAG1):c.2459-12C>T GRCh37: Chr20:10623261 GRCh38: Chr20:10642613	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 217069138.	NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala) GRCh37: Chr20:10621883 GRCh38: Chr20:10641235	JAG1	T976A	Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217057839.	NM_000214.3(JAG1):c.2345-13C>T GRCh37: Chr20:10625045 GRCh38: Chr20:10644397	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 216905140.	NM_000214.3(JAG1):c.1092A>G (p.Pro364=) GRCh37: Chr20:10632257 GRCh38: Chr20:10651609	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 216604441.	NM_000214.3(JAG1):c.3456C>T (p.His1152=) GRCh37: Chr20:10620347 GRCh38: Chr20:10639699	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 216602242.	NM_000214.3(JAG1):c.933T>C (p.Thr311=) GRCh37: Chr20:10632852 GRCh38: Chr20:10652204	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 216392643.	NM_000214.3(JAG1):c.1570-3C>A GRCh37: Chr20:10628761 GRCh38: Chr20:10648113	JAG1		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 216287244.	NM_000214.3(JAG1):c.1277C>T (p.Ser426Phe) GRCh37: Chr20:10630241 GRCh38: Chr20:10649593	JAG1	S426F	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 216152345.	NM_000214.3(JAG1):c.3476A>T (p.Asp1159Val) GRCh37: Chr20:10620327 GRCh38: Chr20:10639679	JAG1	D1159V	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 215947246.	NM_000214.3(JAG1):c.52C>T (p.Leu18Phe) GRCh37: Chr20:10654127 GRCh38: Chr20:10673479	JAG1	L18F	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 215793447.	NM_000214.3(JAG1):c.1579G>A (p.Asp527Asn) GRCh37: Chr20:10628749 GRCh38: Chr20:10648101	JAG1	D527N	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215746148.	NM_000214.3(JAG1):c.439+11C>T GRCh37: Chr20:10644600 GRCh38: Chr20:10663952	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 215618949.	NM_000214.3(JAG1):c.2345-14T>G GRCh37: Chr20:10625046 GRCh38: Chr20:10644398	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 215463050.	NM_000214.3(JAG1):c.2217C>T (p.Thr739=) GRCh37: Chr20:10625801 GRCh38: Chr20:10645153	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 215153051.	NM_000214.3(JAG1):c.3399G>A (p.Thr1133=) GRCh37: Chr20:10620404 GRCh38: Chr20:10639756	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215001852.	NM_000214.3(JAG1):c.332C>T (p.Ala111Val) GRCh37: Chr20:10653404 GRCh38: Chr20:10672756	JAG1	A111V	Alagille syndrome due to a JAG1 point mutation	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 214760853.	NM_000214.3(JAG1):c.26G>C (p.Arg9Pro) GRCh37: Chr20:10654153 GRCh38: Chr20:10673505	JAG1	R9P	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 214657054.	NM_000214.3(JAG1):c.677G>A (p.Gly226Asp) GRCh37: Chr20:10639133 GRCh38: Chr20:10658485	JAG1	G226D	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 214504355.	NM_000214.3(JAG1):c.3132A>C (p.Gly1044=) GRCh37: Chr20:10621498 GRCh38: Chr20:10640850	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 214406656.	NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys) GRCh37: Chr20:10629352 GRCh38: Chr20:10648704	JAG1	R472C	Inborn genetic diseases, Alagille syndrome due to a JAG1 point mutation	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 214400657.	NM_000214.3(JAG1):c.1461C>T (p.Asp487=) GRCh37: Chr20:10629305 GRCh38: Chr20:10648657	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 214392958.	NM_000214.3(JAG1):c.82-9C>T GRCh37: Chr20:10653663 GRCh38: Chr20:10673015	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 214151359.	NM_000214.3(JAG1):c.1119A>G (p.Thr373=) GRCh37: Chr20:10632230 GRCh38: Chr20:10651582	JAG1		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 214078760.	NM_000214.3(JAG1):c.566A>G (p.Asp189Gly) GRCh37: Chr20:10639244 GRCh38: Chr20:10658596	JAG1	D189G	Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation	Conflicting interpretations of pathogenicity (Dec 16, 2022)	criteria provided, conflicting interpretations
Select item 214036461.	NM_000214.3(JAG1):c.1121-20C>G GRCh37: Chr20:10631028 GRCh38: Chr20:10650380	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 214001162.	NM_000214.3(JAG1):c.1999+17_1999+18del GRCh37: Chr20:10626601-10626602 GRCh38: Chr20:10645953-10645954	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 213833763.	NM_000214.3(JAG1):c.659G>T (p.Cys220Phe) GRCh37: Chr20:10639151 GRCh38: Chr20:10658503	JAG1	C220F	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 213833664.	NM_000214.3(JAG1):c.715dup (p.Ser239fs) GRCh37: Chr20:10637085-10637086 GRCh38: Chr20:10656437-10656438	JAG1	S239fs	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Feb 11, 2022)	criteria provided, single submitter
Select item 213833565.	NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter) GRCh37: Chr20:10630940 GRCh38: Chr20:10650292	JAG1	K397*	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 213833466.	NM_000214.3(JAG1):c.2572+1G>T GRCh37: Chr20:10623135 GRCh38: Chr20:10642487	JAG1		Alagille syndrome due to a JAG1 point mutation	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 213833367.	NM_000214.3(JAG1):c.3197dup (p.Asp1067fs) GRCh37: Chr20:10621432-10621433 GRCh38: Chr20:10640784-10640785	JAG1	D1067fs	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Dec 11, 2021)	criteria provided, single submitter
Select item 213822668.	NM_000214.3(JAG1):c.1570-17G>T GRCh37: Chr20:10628775 GRCh38: Chr20:10648127	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 213654269.	NM_000214.3(JAG1):c.2790C>T (p.Cys930=) GRCh37: Chr20:10622234 GRCh38: Chr20:10641586	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 213633070.	NM_000214.3(JAG1):c.1845T>C (p.Cys615=) GRCh37: Chr20:10627627 GRCh38: Chr20:10646979	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 213508871.	NM_000214.3(JAG1):c.661A>G (p.Met221Val) GRCh37: Chr20:10639149 GRCh38: Chr20:10658501	JAG1	M221V	Alagille syndrome due to a JAG1 point mutation	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213376972.	NM_000214.3(JAG1):c.3331A>G (p.Thr1111Ala) GRCh37: Chr20:10620472 GRCh38: Chr20:10639824	JAG1	T1111A	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213209173.	NM_000214.3(JAG1):c.1396-5dup GRCh37: Chr20:10629374-10629375 GRCh38: Chr20:10648726-10648727	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 213104374.	NM_000214.3(JAG1):c.927G>A (p.Gly309=) GRCh37: Chr20:10632858 GRCh38: Chr20:10652210	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 213039375.	NM_000214.3(JAG1):c.3535G>A (p.Val1179Ile) GRCh37: Chr20:10620268 GRCh38: Chr20:10639620	JAG1	V1179I	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 213001076.	NM_000214.3(JAG1):c.866G>A (p.Gly289Asp) GRCh37: Chr20:10633136 GRCh38: Chr20:10652488	JAG1	G289D	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 213000177.	NM_000214.3(JAG1):c.310G>A (p.Gly104Ser) GRCh37: Chr20:10653426 GRCh38: Chr20:10672778	JAG1	G104S	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212600878.	NM_000214.3(JAG1):c.1806C>G (p.His602Gln) GRCh37: Chr20:10627666 GRCh38: Chr20:10647018	JAG1	H602Q	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 212482179.	NM_000214.3(JAG1):c.1131C>A (p.Asp377Glu) GRCh37: Chr20:10630998 GRCh38: Chr20:10650350	JAG1	D377E	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 212032880.	NM_000214.3(JAG1):c.3255G>C (p.Leu1085Phe) GRCh37: Chr20:10620548 GRCh38: Chr20:10639900	JAG1	L1085F	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211903181.	NM_000214.3(JAG1):c.2972A>C (p.Asn991Thr) GRCh37: Chr20:10621837 GRCh38: Chr20:10641189	JAG1	N991T	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211820382.	NM_000214.3(JAG1):c.443del (p.Pro148fs) GRCh37: Chr20:10639367 GRCh38: Chr20:10658719	JAG1	P148fs	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 211772983.	NM_000214.3(JAG1):c.3031G>C (p.Glu1011Gln) GRCh37: Chr20:10621778 GRCh38: Chr20:10641130	JAG1	E1011Q	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211328584.	NM_000214.3(JAG1):c.887-16A>G GRCh37: Chr20:10632914 GRCh38: Chr20:10652266	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 211256585.	NM_000214.3(JAG1):c.3017C>G (p.Pro1006Arg) GRCh37: Chr20:10621792 GRCh38: Chr20:10641144	JAG1	P1006R	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 211029286.	NM_000214.3(JAG1):c.2078G>C (p.Cys693Ser) GRCh37: Chr20:10626039 GRCh38: Chr20:10645391	JAG1	C693S	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210877987.	NM_000214.3(JAG1):c.838T>G (p.Trp280Gly) GRCh37: Chr20:10633164 GRCh38: Chr20:10652516	JAG1	W280G	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 210839788.	NM_000214.3(JAG1):c.2916+17_2916+20del GRCh37: Chr20:10622088-10622091 GRCh38: Chr20:10641440-10641443	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 210793989.	NM_000214.3(JAG1):c.1235-18A>T GRCh37: Chr20:10630301 GRCh38: Chr20:10649653	JAG1, MIR6870		Alagille syndrome due to a JAG1 point mutation	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210474990.	NM_000214.3(JAG1):c.3199+17A>G GRCh37: Chr20:10621414 GRCh38: Chr20:10640766	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 209726791.	NM_000214.3(JAG1):c.2572+1G>C GRCh37: Chr20:10623135 GRCh38: Chr20:10642487	JAG1		Alagille syndrome due to a JAG1 point mutation	Pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 209394592.	NM_000214.3(JAG1):c.175C>T (p.Arg59Trp) GRCh37: Chr20:10653561 GRCh38: Chr20:10672913	JAG1	R59W	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209378693.	NM_000214.3(JAG1):c.2329C>A (p.Pro777Thr) GRCh37: Chr20:10625526 GRCh38: Chr20:10644878	JAG1	P777T	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 209366494.	NM_000214.3(JAG1):c.1396-3T>C GRCh37: Chr20:10629373 GRCh38: Chr20:10648725	JAG1		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 209169195.	NM_000214.3(JAG1):c.994A>T (p.Asn332Tyr) GRCh37: Chr20:10632791 GRCh38: Chr20:10652143	JAG1	N332Y	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 209126296.	NM_000214.3(JAG1):c.200C>G (p.Thr67Ser) GRCh37: Chr20:10653536 GRCh38: Chr20:10672888	JAG1	T67S	Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jan 31, 2022)	criteria provided, single submitter
Select item 209126197.	NM_000214.3(JAG1):c.2572+9G>T GRCh37: Chr20:10623127 GRCh38: Chr20:10642479	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 208891298.	NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter) GRCh37: Chr20:10623203 GRCh38: Chr20:10642555	JAG1	C835*	Alagille syndrome due to a JAG1 point mutation	Pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 208623799.	NM_000214.3(JAG1):c.2113+16C>A GRCh37: Chr20:10625988 GRCh38: Chr20:10645340	JAG1		Alagille syndrome due to a JAG1 point mutation	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 2086072100.	NM_000214.3(JAG1):c.2572+4T>C GRCh37: Chr20:10623132 GRCh38: Chr20:10642484	JAG1		Alagille syndrome due to a JAG1 point mutation	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter

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