| - GRCh37:
- Chr7:103138375
- GRCh38:
- Chr7:103497928
| RELN, SLC26A5-AS1 | | Norman-Roberts syndrome | Pathogenic
(Sep 27, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr7:103197708
- GRCh38:
- Chr7:103557261
| RELN | | Norman-Roberts syndrome | Uncertain significance
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103474076
- GRCh38:
- Chr7:103833629
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103175813
- GRCh38:
- Chr7:103535366
| RELN | D2433E | Norman-Roberts syndrome | Uncertain significance
(Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103205866
- GRCh38:
- Chr7:103565419
| RELN | N1690S | Norman-Roberts syndrome | Uncertain significance
(Feb 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103155629
- GRCh38:
- Chr7:103515182
| RELN | | Norman-Roberts syndrome | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103252058
- GRCh38:
- Chr7:103611611
| RELN | E965D | Norman-Roberts syndrome | Uncertain significance
(Apr 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103341372
- GRCh38:
- Chr7:103700925
| RELN | Q296L | Norman-Roberts syndrome | Uncertain significance
(Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103179585
- GRCh38:
- Chr7:103539138
| RELN | E2374* | Norman-Roberts syndrome | Likely pathogenic
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103389853-103474139
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Pathogenic
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103159893
- GRCh38:
- Chr7:103519446
| RELN | M2580K | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103141308
- GRCh38:
- Chr7:103500861
| RELN, SLC26A5-AS1 | Y2851H | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103629558
- GRCh38:
- Chr7:103989111
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103138699
- GRCh38:
- Chr7:103498252
| RELN, SLC26A5-AS1 | T2890A | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103301892
- GRCh38:
- Chr7:103661445
| LOC126860131, RELN | E458Q | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103138274
- GRCh38:
- Chr7:103497827
| RELN, SLC26A5-AS1 | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103131210
- GRCh38:
- Chr7:103490763
| LOC126860130, RELN, SLC26A5-AS1 | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103180827
- GRCh38:
- Chr7:103540380
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103151391
- GRCh38:
- Chr7:103510944
| RELN, SLC26A5-AS1 | D2727E | Inborn genetic diseases, Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
| Uncertain significance
(Jan 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:103185787
- GRCh38:
- Chr7:103545340
| RELN | V2103I | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103292209
- GRCh38:
- Chr7:103651762
| RELN | H597Q | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103207052
- GRCh38:
- Chr7:103566605
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103141367
- GRCh38:
- Chr7:103500920
| SLC26A5-AS1, RELN | P2831L | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103163892
- GRCh38:
- Chr7:103523445
| RELN | D2479G | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103270631
- GRCh38:
- Chr7:103630184
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103126723
- GRCh38:
- Chr7:103486276
| SLC26A5-AS1, RELN | A3302T | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103294649
- GRCh38:
- Chr7:103654202
| RELN | G482E | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103294579
- GRCh38:
- Chr7:103654132
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Benign
(Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103137134
- GRCh38:
- Chr7:103496687
| RELN, SLC26A5-AS1 | D3011G | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jul 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103159833
- GRCh38:
- Chr7:103519386
| RELN | V2600A | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Dec 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103234873
- GRCh38:
- Chr7:103594426
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103205841
- GRCh38:
- Chr7:103565394
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103393675
- GRCh38:
- Chr7:103753228
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103136363
- GRCh38:
- Chr7:103495916
| SLC26A5-AS1, RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103197406
- GRCh38:
- Chr7:103556959
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103212685
- GRCh38:
- Chr7:103572238
| RELN | I1512V | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103629714
- GRCh38:
- Chr7:103989267
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103236985
- GRCh38:
- Chr7:103596538
| RELN | V1153I | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103159811
- GRCh38:
- Chr7:103519364
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Benign
(Apr 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103629799
- GRCh38:
- Chr7:103989352
| RELN | E2G | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103293128
- GRCh38:
- Chr7:103652681
| RELN | H545Y | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103417024
- GRCh38:
- Chr7:103776577
| RELN | Q175R | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103281075
- GRCh38:
- Chr7:103640628
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103214682
- GRCh38:
- Chr7:103574235
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Benign
(Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103123374
- GRCh38:
- Chr7:103482927
| SLC26A5-AS1, RELN | R3409H | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103175888
- GRCh38:
- Chr7:103535441
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103214701
- GRCh38:
- Chr7:103574254
| RELN | M1450T | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103276861
- GRCh38:
- Chr7:103636414
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Benign
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103138684
- GRCh38:
- Chr7:103498237
| SLC26A5-AS1, RELN | R2895C | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103629669
- GRCh38:
- Chr7:103989222
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103252044-103252045
- GRCh38:
- Chr7:103611597-103611598
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103252219
- GRCh38:
- Chr7:103611772
| RELN | M912V | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7, Inborn genetic diseases
| Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:103557635
- GRCh38:
- Chr7:103917188
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103251209
- GRCh38:
- Chr7:103610762
| RELN | S981G | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103138287
- GRCh38:
- Chr7:103497840
| RELN, SLC26A5-AS1 | L2977S | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(Dec 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103155781
- GRCh38:
- Chr7:103515334
| RELN | N2657S | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103416988
- GRCh38:
- Chr7:103776541
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103368615
- GRCh38:
- Chr7:103728168
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103137193
- GRCh38:
- Chr7:103496746
| RELN, SLC26A5-AS1 | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103244833
- GRCh38:
- Chr7:103604386
| RELN | M1036V | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103276792
- GRCh38:
- Chr7:103636345
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103206873
- GRCh38:
- Chr7:103566426
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103141255
- GRCh38:
- Chr7:103500808
| SLC26A5-AS1, RELN | R2868S | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Oct 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103124222
- GRCh38:
- Chr7:103483775
| RELN, SLC26A5-AS1 | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103281044
- GRCh38:
- Chr7:103640597
| RELN | P672R | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103175750
- GRCh38:
- Chr7:103535303
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103202042
- GRCh38:
- Chr7:103561595
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103118828
- GRCh38:
- Chr7:103478381
| SLC26A5-AS1, RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103197492
- GRCh38:
- Chr7:103557045
| RELN | N1910S | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103207093
- GRCh38:
- Chr7:103566646
| RELN | A1568T | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103143606
- GRCh38:
- Chr7:103503159
| SLC26A5-AS1, RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Oct 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103252081
- GRCh38:
- Chr7:103611634
| RELN | L958V | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Jan 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103281069
- GRCh38:
- Chr7:103640622
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103162661
- GRCh38:
- Chr7:103522214
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103252229
- GRCh38:
- Chr7:103611782
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103629737
- GRCh38:
- Chr7:103989290
| RELN | A23T | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103252188
- GRCh38:
- Chr7:103611741
| RELN | I922T | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103191562
- GRCh38:
- Chr7:103551115
| RELN | Q2085R | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103389863
- GRCh38:
- Chr7:103749416
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103130361
- GRCh38:
- Chr7:103489914
| LOC126860130, RELN, SLC26A5-AS1 | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103275967
- GRCh38:
- Chr7:103635520
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Benign
(Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103290701
- GRCh38:
- Chr7:103650254
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103180732
- GRCh38:
- Chr7:103540285
| RELN | P2281L | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103270403
- GRCh38:
- Chr7:103629956
| RELN | H896Y | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103151460-103151461
- GRCh38:
- Chr7:103511013-103511014
| RELN, SLC26A5-AS1 | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Benign
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103191708
- GRCh38:
- Chr7:103551261
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103363569
- GRCh38:
- Chr7:103723122
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103136365
- GRCh38:
- Chr7:103495918
| RELN, SLC26A5-AS1 | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103206765
- GRCh38:
- Chr7:103566318
| RELN | I1614M | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome, not provided
| Uncertain significance
(Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:103194169
- GRCh38:
- Chr7:103553722
| RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103234757
- GRCh38:
- Chr7:103594310
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103244950
- GRCh38:
- Chr7:103604503
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103234859
- GRCh38:
- Chr7:103594412
| RELN | E1207G | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103175842
- GRCh38:
- Chr7:103535395
| RELN | Y2424H | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103202306
- GRCh38:
- Chr7:103561859
| RELN | P1769S | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103341400
- GRCh38:
- Chr7:103700953
| RELN | A287S | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103252183
- GRCh38:
- Chr7:103611736
| RELN | A924T | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Uncertain significance
(Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103301985
- GRCh38:
- Chr7:103661538
| LOC126860131, RELN | | Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 | Likely benign
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:103206676
- GRCh38:
- Chr7:103566229
| RELN | N1644T | not provided, Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
| Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:103234819
- GRCh38:
- Chr7:103594372
| RELN | | Familial temporal lobe epilepsy 7, Norman-Roberts syndrome | Likely benign
(Jun 14, 2022) | criteria provided, single submitter |