| - GRCh37:
- Chr20:10628778
- GRCh38:
- Chr20:10648130
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10625640
- GRCh38:
- Chr20:10644992
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10627675
- GRCh38:
- Chr20:10647027
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10629762
- GRCh38:
- Chr20:10649114
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10622091
- GRCh38:
- Chr20:10641443
| JAG1 | | Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10625494
- GRCh38:
- Chr20:10644846
| JAG1 | | Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Benign/Likely benign
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10639098-10639099
- GRCh38:
- Chr20:10658450-10658451
| JAG1 | | Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Benign/Likely benign
(Jul 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10627575
- GRCh38:
- Chr20:10646927
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10633183
- GRCh38:
- Chr20:10652535
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Likely benign
(Dec 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10632218
- GRCh38:
- Chr20:10651570
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10625042
- GRCh38:
- Chr20:10644394
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10632810
- GRCh38:
- Chr20:10652162
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
| Likely benign
(Aug 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10622411
- GRCh38:
- Chr20:10641763
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10621521
- GRCh38:
- Chr20:10640873
| JAG1 | D1037N | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH | Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10625543
- GRCh38:
- Chr20:10644895
| JAG1 | K771T | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10629772-10629774
- GRCh38:
- Chr20:10649124-10649126
| JAG1 | | Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620261
- GRCh38:
- Chr20:10639613
| JAG1 | R1181K | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Uncertain significance
(Dec 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10630189
- GRCh38:
- Chr20:10649541
| JAG1 | M443I | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10628591-10628592
- GRCh38:
- Chr20:10647943-10647944
| JAG1 | | Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10626067
- GRCh38:
- Chr20:10645419
| JAG1 | D684N | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620325
- GRCh38:
- Chr20:10639677
| JAG1 | D1160N | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10653420
- GRCh38:
- Chr20:10672772
| JAG1 | T106A | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Sep 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10622266
- GRCh38:
- Chr20:10641618
| JAG1 | I920F | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10621792
- GRCh38:
- Chr20:10641144
| JAG1 | P1006L | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, Stroke
| Uncertain significance
(Mar 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10624992
- GRCh38:
- Chr20:10644344
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10630248
- GRCh38:
- Chr20:10649600
| JAG1 | A424T | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10644632
- GRCh38:
- Chr20:10663984
| JAG1 | D140N | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Feb 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620166
- GRCh38:
- Chr20:10639518
| JAG1 | R1213* | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, not provided
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10628621
- GRCh38:
- Chr20:10647973
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype,
not provided | Benign/Likely benign
(Jan 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10644636
- GRCh38:
- Chr20:10663988
| JAG1 | | Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Cardiovascular phenotype, not provided,
Alagille syndrome due to a JAG1 point mutation | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10621489
- GRCh38:
- Chr20:10640841
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation
| Benign/Likely benign
(Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10625774
- GRCh38:
- Chr20:10645126
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, not provided, Alagille syndrome due to a JAG1 point mutation
| Benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10629387-10629388
- GRCh38:
- Chr20:10648739-10648740
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, not provided, Alagille syndrome due to a JAG1 point mutation
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10623209
- GRCh38:
- Chr20:10642561
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot, Cardiovascular phenotype
| Likely benign
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10639317
- GRCh38:
- Chr20:10658669
| JAG1 | R165W | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10623211
- GRCh38:
- Chr20:10642563
| JAG1 | A833T | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10622555
- GRCh38:
- Chr20:10641907
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10625605
- GRCh38:
- Chr20:10644957
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10628720
- GRCh38:
- Chr20:10648072
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
| Likely benign
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10653616
- GRCh38:
- Chr20:10672968
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Feb 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10628592
- GRCh38:
- Chr20:10647944
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10628591
- GRCh38:
- Chr20:10647943
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10629721
- GRCh38:
- Chr20:10649073
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10632792
- GRCh38:
- Chr20:10652144
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Jan 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620566
- GRCh38:
- Chr20:10639918
| JAG1 | | Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620405
- GRCh38:
- Chr20:10639757
| JAG1 | T1133M | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot | Conflicting interpretations of pathogenicity
(Jul 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10622323
- GRCh38:
- Chr20:10641675
| JAG1 | P901T | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620241
- GRCh38:
- Chr20:10639593
| JAG1 | G1188S | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon | Conflicting interpretations of pathogenicity
(Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620474
- GRCh38:
- Chr20:10639826
| JAG1 | N1110S | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon
| Conflicting interpretations of pathogenicity
(Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10632807
- GRCh38:
- Chr20:10652159
| JAG1 | | Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Jan 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10653650
- GRCh38:
- Chr20:10673002
| JAG1 | C29S | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot | Uncertain significance
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10653387
- GRCh38:
- Chr20:10672739
| JAG1 | R117G | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot | Conflicting interpretations of pathogenicity
(Sep 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620508-10620516
- GRCh38:
- Chr20:10639860-10639868
| JAG1 | | Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(May 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10653414
- GRCh38:
- Chr20:10672766
| JAG1 | N108H | Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Jan 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10629301
- GRCh38:
- Chr20:10648653
| JAG1 | D489N | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10622196
- GRCh38:
- Chr20:10641548
| JAG1 | P943L | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Aug 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10622113
- GRCh38:
- Chr20:10641465
| JAG1 | S971P | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10624471
- GRCh38:
- Chr20:10643823
| JAG1 | R805W | Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon,
Alagille syndrome due to a JAG1 point mutation, not specified, not provided
| Uncertain significance
(May 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10653413
- GRCh38:
- Chr20:10672765
| JAG1 | N108I | Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Apr 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10622498
- GRCh38:
- Chr20:10641850
| JAG1 | D872G | Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation | Conflicting interpretations of pathogenicity
(Aug 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10633134
- GRCh38:
- Chr20:10652486
| JAG1 | G290S | Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, not provided, Alagille syndrome due to a JAG1 point mutation
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620516
- GRCh38:
- Chr20:10639868
| JAG1 | R1096Q | Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, not provided, Alagille syndrome due to a JAG1 point mutation
| Uncertain significance
(Jun 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10630924
- GRCh38:
- Chr20:10650276
| JAG1 | P402R | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation,
Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10627637
- GRCh38:
- Chr20:10646989
| JAG1 | K612R | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10621565
- GRCh38:
- Chr20:10640917
| JAG1 | R1022Q | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon | Conflicting interpretations of pathogenicity
(Sep 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620297
- GRCh38:
- Chr20:10639649
| JAG1 | R1169Q | Cardiovascular phenotype, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Jun 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10653405
- GRCh38:
- Chr20:10672757
| JAG1 | A111T | Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance
(Nov 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10654253
- GRCh38:
- Chr20:10673605
| JAG1 | | Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease | Uncertain significance
(Dec 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10621802
- GRCh38:
- Chr20:10641154
| JAG1 | E1003K | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, JAG1-related condition
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10622232
- GRCh38:
- Chr20:10641584
| JAG1 | T931I | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620236
- GRCh38:
- Chr20:10639588
| JAG1 | | Cardiovascular phenotype, not provided, Alagille syndrome due to a JAG1 point mutation,
Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon | Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10621503
- GRCh38:
- Chr20:10640855
| JAG1 | D1043N | not provided, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Sep 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10629313-10629314
- GRCh38:
- Chr20:10648665-10648666
| JAG1 | | Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Alagille syndrome due to a JAG1 point mutation, not provided | Pathogenic
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10653488
- GRCh38:
- Chr20:10672840
| JAG1 | Q83R | Cardiovascular phenotype, not provided, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation
| Uncertain significance
(Mar 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10621811
- GRCh38:
- Chr20:10641163
| JAG1 | I1000V | Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype,
not provided, Alagille syndrome due to a JAG1 point mutation | Uncertain significance
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10630209
- GRCh38:
- Chr20:10649561
| JAG1 | D437N | Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation,
Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, not provided
| Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10653422
- GRCh38:
- Chr20:10672774
| JAG1 | N105S | Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, not provided | Uncertain significance
(Jan 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620165
- GRCh38:
- Chr20:10639517
| JAG1 | R1213Q | not provided, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10654174
- GRCh38:
- Chr20:10673526
| JAG1 | R2L | not provided, Alagille syndrome due to a JAG1 point mutation, JAG1-related condition,
Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation,
Charcot-Marie-Tooth disease, axonal, Type 2HH | Conflicting interpretations of pathogenicity
(Mar 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620296
- GRCh38:
- Chr20:10639648
| JAG1 | | Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype,
not specified, not provided, Alagille syndrome due to a JAG1 point mutation
| Benign/Likely benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10629711
- GRCh38:
- Chr20:10649063
| JAG1 | R465W | Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation,
not provided | Uncertain significance
(Mar 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10629737
- GRCh38:
- Chr20:10649089
| JAG1 | G456D | Alagille syndrome due to a JAG1 point mutation, not provided, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH
| Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620412
- GRCh38:
- Chr20:10639764
| JAG1 | A1131T | JAG1-related condition, Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon,
Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation | Conflicting interpretations of pathogenicity
(Feb 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10628673
- GRCh38:
- Chr20:10648025
| JAG1 | P552L | not provided, not specified, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10620151
- GRCh38:
- Chr20:10639503
| JAG1 | V1218I | JAG1-related condition, not provided, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10639289
- GRCh38:
- Chr20:10658641
| JAG1 | T174M | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon, not provided
| Conflicting interpretations of pathogenicity
(Oct 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10654160
- GRCh38:
- Chr20:10673512
| JAG1 | R7C | Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation,
not provided | Conflicting interpretations of pathogenicity
(Jan 14, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10621770
- GRCh38:
- Chr20:10641122
| JAG1 | | Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon | Likely benign
(Jan 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10622197
- GRCh38:
- Chr20:10641549
| JAG1 | P943S | Inborn genetic diseases, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Alagille syndrome due to a JAG1 point mutation
| Conflicting interpretations of pathogenicity
(Mar 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10620336
- GRCh38:
- Chr20:10639688
| JAG1 | V1156A | Alagille syndrome due to a JAG1 point mutation, not provided, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon | Conflicting interpretations of pathogenicity
(Sep 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10644601
- GRCh38:
- Chr20:10663953
| JAG1 | | not specified, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon, not provided,
Alagille syndrome due to a JAG1 point mutation | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10644666
- GRCh38:
- Chr20:10664018
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation,
Deafness, congenital heart defects, and posterior embryotoxon, Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot,
Alagille syndrome due to a JAG1 point mutation, not specified, not provided
| Benign/Likely benign
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10639284
- GRCh38:
- Chr20:10658636
| JAG1 | V176I | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Cardiovascular phenotype,
not provided, Isolated Nonsyndromic Congenital Heart Disease, not specified
| Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10630174
- GRCh38:
- Chr20:10649526
| JAG1 | | Isolated Nonsyndromic Congenital Heart Disease, Cardiovascular phenotype, Deafness, congenital heart defects, and posterior embryotoxon,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Tetralogy of Fallot, Alagille syndrome due to a JAG1 point mutation,
not provided, Alagille syndrome due to a JAG1 point mutation | Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10625624
- GRCh38:
- Chr20:10644976
| JAG1 | R744Q | not specified, not provided, Cardiovascular phenotype,
Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Deafness, congenital heart defects, and posterior embryotoxon, Tetralogy of Fallot, Isolated Nonsyndromic Congenital Heart Disease
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10625555
- GRCh38:
- Chr20:10644907
| JAG1 | T767M | Alagille syndrome due to a JAG1 point mutation, Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation,
Tetralogy of Fallot, Charcot-Marie-Tooth disease, axonal, Type 2HH, Cardiovascular phenotype,
not provided, Isolated Nonsyndromic Congenital Heart Disease | Conflicting interpretations of pathogenicity
(Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr20:10626044
- GRCh38:
- Chr20:10645396
| JAG1 | | Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot,
Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon, Isolated Nonsyndromic Congenital Heart Disease,
not specified, not provided, Alagille syndrome due to a JAG1 point mutation
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10654123
- GRCh38:
- Chr20:10673475
| JAG1 | A19V | not provided, Charcot-Marie-Tooth disease, axonal, Type 2HH, Deafness, congenital heart defects, and posterior embryotoxon,
Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot | Uncertain significance
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10644650
- GRCh38:
- Chr20:10664002
| JAG1 | | not specified, Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype,
Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation, Charcot-Marie-Tooth disease, axonal, Type 2HH,
Tetralogy of Fallot | Likely benign
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:10622081
- GRCh38:
- Chr20:10641433
| JAG1 | | not provided, Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome due to a JAG1 point mutation,
not specified, Tetralogy of Fallot | Benign
(Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |