| - GRCh37:
- Chr1:8420507
- GRCh38:
- Chr1:8360447
| RERE | H1020Q, H466Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 3, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418277-8418288
- GRCh38:
- Chr1:8358217-8358228
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely pathogenic
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716220
- GRCh38:
- Chr1:8656161
| RERE | G46V | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Dec 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420892
- GRCh38:
- Chr1:8360832
| RERE | A338V, A892V | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8416247
- GRCh38:
- Chr1:8356187
| RERE | R1467G, R913G | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Apr 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418264
- GRCh38:
- Chr1:8358204
| RERE | L1444R, L890R | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8419961
- GRCh38:
- Chr1:8359901
| RERE | K1161E, K607E | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421037
- GRCh38:
- Chr1:8360977
| RERE | P290S, P844S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420826
- GRCh38:
- Chr1:8360766
| RERE | R360Q, R914Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jan 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8419911
- GRCh38:
- Chr1:8359851
| RERE | K1177N, K623N | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Dec 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420188
- GRCh38:
- Chr1:8360128
| RERE | A1127T, A573T | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Dec 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421282
- GRCh38:
- Chr1:8361222
| RERE | P208L, P762L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421903-8421905
- GRCh38:
- Chr1:8361843-8361845
| RERE | K645del, K91del | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418681
- GRCh38:
- Chr1:8358621
| RERE | R1305Q, R751Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8424121
- GRCh38:
- Chr1:8364061
| RERE | G25S, G579S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Mar 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421219-8421220
- GRCh38:
- Chr1:8361159-8361160
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Dec 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716319-8716324
- GRCh38:
- Chr1:8656260-8656265
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418655
- GRCh38:
- Chr1:8358595
| RERE | I1314L, I760L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Apr 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420431
- GRCh38:
- Chr1:8360371
| RERE | P1046S, P492S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716119
- GRCh38:
- Chr1:8656060
| RERE | P80S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716214
- GRCh38:
- Chr1:8656155
| RERE | K48R | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Nov 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8416234
- GRCh38:
- Chr1:8356174
| RERE | P1471L, P917L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716133
- GRCh38:
- Chr1:8656074
| RERE | N75S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8557531
- GRCh38:
- Chr1:8497471
| RERE | H313R | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Oct 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420923-8420929
- GRCh38:
- Chr1:8360863-8360869
| RERE | Q326fs, Q880fs | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421267
- GRCh38:
- Chr1:8361207
| RERE | T213M, T767M | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Inborn genetic diseases | Conflicting interpretations of pathogenicity
(Jan 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:8418960
- GRCh38:
- Chr1:8358900
| RERE | A658V, A1212V | Inborn genetic diseases, not provided, Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
| Conflicting interpretations of pathogenicity
(Jul 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:8420917
- GRCh38:
- Chr1:8360857
| RERE | P330S, P884S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716215
- GRCh38:
- Chr1:8656156
| RERE | K48E | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely benign
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420753
- GRCh38:
- Chr1:8360693
| RERE | Q384H, Q938H | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420938
- GRCh38:
- Chr1:8360878
| RERE | Q323K, Q877K | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8684417
- GRCh38:
- Chr1:8624358
| RERE | R117fs | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely pathogenic
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420845-8420846
- GRCh38:
- Chr1:8360785-8360786
| RERE | Q354*, Q908* | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely pathogenic
(Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420773
- GRCh38:
- Chr1:8360713
| RERE | P378A, P932A | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8419938-8419949
- GRCh38:
- Chr1:8359878-8359889
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8419851
- GRCh38:
- Chr1:8359791
| RERE | E1197D, E643D | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420431
- GRCh38:
- Chr1:8360371
| RERE | P1046A, P492A | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421002
- GRCh38:
- Chr1:8360942
| RERE | H301Q, H855Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716314
- GRCh38:
- Chr1:8656255
| RERE | R15W | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Apr 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8670976
- GRCh38:
- Chr1:8610917
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421010
- GRCh38:
- Chr1:8360950
| RERE | G299S, G853S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not specified | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8416219
- GRCh38:
- Chr1:8356159
| RERE | P1476L, P922L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8425976
- GRCh38:
- Chr1:8365916
| RERE | R448Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Oct 14, 2021) | criteria provided, single submitter |
| | RERE | K25fs | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely pathogenic
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8424822
- GRCh38:
- Chr1:8364762
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8616562
- GRCh38:
- Chr1:8556503
| RERE | V233I | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Inborn genetic diseases, not provided
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:8674689-8674690
- GRCh38:
- Chr1:8614630-8614631
| RERE | A152fs | not provided, Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic/Likely pathogenic
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8424316
- GRCh38:
- Chr1:8364256
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely pathogenic
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716241
- GRCh38:
- Chr1:8656182
| RERE | R39Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421445
- GRCh38:
- Chr1:8361385
| RERE | N154D, N708D | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8482795
- GRCh38:
- Chr1:8422735
| RERE | K426Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421203
- GRCh38:
- Chr1:8361143
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Benign
(Nov 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421092
- GRCh38:
- Chr1:8361032
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Benign
(Nov 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418650
- GRCh38:
- Chr1:8358590
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8418644
- GRCh38:
- Chr1:8358584
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8418571-8418572
- GRCh38:
- Chr1:8358511-8358512
| RERE | N1342*, N788* | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Likely pathogenic
(Apr 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8424144
- GRCh38:
- Chr1:8364084
| RERE | S17N, S571N | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Sep 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420006
- GRCh38:
- Chr1:8359946
| RERE | R1146W, R592W | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Uncertain significance
(May 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8420803
- GRCh38:
- Chr1:8360743
| RERE | P368A, P922A | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8522332
- GRCh38:
- Chr1:8462272
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8525998
- GRCh38:
- Chr1:8465938
| RERE | T397I | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8693437
- GRCh38:
- Chr1:8633378
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jul 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418748
- GRCh38:
- Chr1:8358688
| RERE | P1283S, P729S | Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided
| Conflicting interpretations of pathogenicity
(Nov 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:8415575
- GRCh38:
- Chr1:8355515
| RERE | S970L, S1524L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(May 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420847
- GRCh38:
- Chr1:8360787
| RERE | L353P, L907P | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Apr 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8418553
- GRCh38:
- Chr1:8358493
| RERE | A1348S, A794S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jan 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418596
- GRCh38:
- Chr1:8358536
| RERE | E779D, E1333D | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Inborn genetic diseases, not provided
| Uncertain significance
(Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8418792
- GRCh38:
- Chr1:8358732
| RERE | T714N, T1268N | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Uncertain significance
(Sep 9, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8419963
- GRCh38:
- Chr1:8359903
| RERE | A606V, A1160V | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420346
- GRCh38:
- Chr1:8360286
| RERE | A520E, A1074E | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jan 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420409
- GRCh38:
- Chr1:8360349
| RERE | P1053L, P499L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Inborn genetic diseases | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8420472
- GRCh38:
- Chr1:8360412
| RERE | P478H, P1032H | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Mar 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421048
- GRCh38:
- Chr1:8360988
| RERE | S286F, S840F | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Oct 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8424172-8424175
- GRCh38:
- Chr1:8364112-8364115
| RERE | E561fs, E7fs | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Mar 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8557579
- GRCh38:
- Chr1:8497519
| RERE | P297L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jan 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420473
- GRCh38:
- Chr1:8360413
| RERE | P1032S, P478S | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Dec 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8419976
- GRCh38:
- Chr1:8359916
| RERE | G1156W, G602W | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Sep 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8416292
- GRCh38:
- Chr1:8356232
| RERE | V1452I, V898I | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420706
- GRCh38:
- Chr1:8360646
| RERE | P400L, P954L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Benign
(Sep 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421145
- GRCh38:
- Chr1:8361085
| RERE | P254T, P808T | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Apr 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8419855
- GRCh38:
- Chr1:8359795
| RERE | R642Q, R1196Q | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Jan 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8616624
- GRCh38:
- Chr1:8556565
| RERE | G212E | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Mar 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8421060
- GRCh38:
- Chr1:8361000
| RERE | P836L, P282L | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Aug 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716116
- GRCh38:
- Chr1:8656057
| RERE | K81E | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Apr 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8616552
- GRCh38:
- Chr1:8556493
| RERE | Y236C | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Dec 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8415618
- GRCh38:
- Chr1:8355558
| RERE | P1510T, P956T | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8419868-8419869
- GRCh38:
- Chr1:8359808-8359809
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided, See cases
| Benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8418899
- GRCh38:
- Chr1:8358839
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8419869-8419874
- GRCh38:
- Chr1:8359809-8359814
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Benign/Likely benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8419854-8419855
- GRCh38:
- Chr1:8359794-8359795
| RERE | | not provided, Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:8421433
- GRCh38:
- Chr1:8361373
| RERE | S712P, S158P | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420221
- GRCh38:
- Chr1:8360161
| RERE | P1116T, P562T | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418276
- GRCh38:
- Chr1:8358216
| RERE | Q1440R, Q886R | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic
(Sep 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8420275
- GRCh38:
- Chr1:8360215
| RERE | L1098V, L544V | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Sep 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418292
- GRCh38:
- Chr1:8358232
| RERE | H1435Y, H881Y | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic
(Sep 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418295
- GRCh38:
- Chr1:8358235
| RERE | S1434P, S880P | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic
(Sep 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716108-8716109
- GRCh38:
- Chr1:8656049-8656050
| RERE | S84fs | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic
(Sep 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8497191-8813784
| RERE | | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Pathogenic
(Sep 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8716343
- GRCh38:
- Chr1:8656284
| RERE | K5R | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | Uncertain significance
(Mar 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8418291
- GRCh38:
- Chr1:8358231
| RERE | H1435R, H881R | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided | Pathogenic/Likely pathogenic
(Feb 24, 2023) | criteria provided, multiple submitters, no conflicts |