| - GRCh37:
- Chr1:52861750-52861751
- GRCh38:
- Chr1:52396078-52396079
| ORC1 | T230fs | Meier-Gorlin syndrome 1 | Likely pathogenic
(Jan 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19502488
- GRCh38:
- Chr22:19514965
| CDC45 | G407S, G441S, G453S, G485S | Meier-Gorlin syndrome 1, 22q11.2 deletion syndrome, not provided
| Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52862038
- GRCh38:
- Chr1:52396366
| ORC1 | | Meier-Gorlin syndrome 1 | Pathogenic
(Aug 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr21:34957050
- GRCh38:
- Chr21:33584744
| DONSON | R211G | Meier-Gorlin syndrome 1 | Uncertain significance
(Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr21:34960900
- GRCh38:
- Chr21:33588594
| DONSON | E17fs | Meier-Gorlin syndrome 1 | Likely pathogenic
(Jul 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52867040
- GRCh38:
- Chr1:52401368
| ORC1 | E73K | Meier-Gorlin syndrome 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:52835048-52839295
- GRCh38:
- Chr1:52369376-52373623
| ORC1 | | Meier-Gorlin syndrome 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:52849240
- GRCh38:
- Chr1:52383568
| ORC1 | L617P, L622P | Meier-Gorlin syndrome 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:52859263
- GRCh38:
- Chr1:52393591
| ORC1 | P312S | Meier-Gorlin syndrome 1 | Uncertain significance
(Dec 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52863522
- GRCh38:
- Chr1:52397850
| ORC1 | P80fs | Meier-Gorlin syndrome 1 | Pathogenic
(Jun 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52850834
- GRCh38:
- Chr1:52385162
| ORC1 | G523R, G528R | Meier-Gorlin syndrome 1 | Uncertain significance
(Jun 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52838955
- Chr1:52838956
- GRCh38:
- Chr1:52373283
- Chr1:52373284
| ORC1, ORC1 | C824fs, C829fs, S823F, S828F | Meier-Gorlin syndrome 1 | Likely pathogenic
(May 31, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:52863446
- GRCh38:
- Chr1:52397774
| ORC1 | R105W | Meier-Gorlin syndrome 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:52854301
- GRCh38:
- Chr1:52388629
| ORC1 | G399D | not provided, Meier-Gorlin syndrome 1 | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52854114
- GRCh38:
- Chr1:52388442
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52870090
- GRCh38:
- Chr1:52404418
| LOC126805733, ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52867912
- GRCh38:
- Chr1:52402240
| ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52867106
- GRCh38:
- Chr1:52401434
| ORC1 | Q51E | Meier-Gorlin syndrome 1, not provided | Conflicting interpretations of pathogenicity
(Aug 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52851539
- GRCh38:
- Chr1:52385867
| ORC1 | E484V, E489V | Inborn genetic diseases, not provided, Meier-Gorlin syndrome 1
| Uncertain significance
(Dec 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52850332
- GRCh38:
- Chr1:52384660
| ORC1 | R544C, R549C | Inborn genetic diseases, not provided, Meier-Gorlin syndrome 1
| Uncertain significance
(Sep 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52867068
- GRCh38:
- Chr1:52401396
| ORC1 | | Meier-Gorlin syndrome 1, not provided | Benign/Likely benign
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52863470
- GRCh38:
- Chr1:52397798
| ORC1 | A97S | Meier-Gorlin syndrome 1, not provided | Uncertain significance
(Jul 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52863345
- GRCh38:
- Chr1:52397673
| ORC1 | | Meier-Gorlin syndrome 1, not provided | Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52841092
- GRCh38:
- Chr1:52375420
| ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52839021
- GRCh38:
- Chr1:52373349
| ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52861883
- GRCh38:
- Chr1:52396211
| ORC1 | C186R | Inborn genetic diseases, Meier-Gorlin syndrome 1 | Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52859389
- GRCh38:
- Chr1:52393717
| ORC1 | E270K | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52859286
- GRCh38:
- Chr1:52393614
| ORC1 | T304I | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52859172
- GRCh38:
- Chr1:52393500
| ORC1 | G342V | Meier-Gorlin syndrome 1 | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52839004
- GRCh38:
- Chr1:52373332
| ORC1 | P807L, P812L | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52838903
- GRCh38:
- Chr1:52373231
| ORC1 | R846W, R841W | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52838869
- GRCh38:
- Chr1:52373197
| ORC1 | A852V, A857V | Meier-Gorlin syndrome 1, not provided | Uncertain significance
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52851600
- GRCh38:
- Chr1:52385928
| ORC1 | C469R, C464R | not provided, Meier-Gorlin syndrome 1 | Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52850232
- GRCh38:
- Chr1:52384560
| ORC1 | Q577R, Q582R | not provided, Meier-Gorlin syndrome 1 | Benign/Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52838859
- GRCh38:
- Chr1:52373187
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52850270
- GRCh38:
- Chr1:52384598
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52841243
- GRCh38:
- Chr1:52375571
| ORC1 | R716Q, R721Q | not provided, Meier-Gorlin syndrome 1 | Conflicting interpretations of pathogenicity
(Aug 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52849141
- GRCh38:
- Chr1:52383469
| ORC1 | T655I, T650I | Meier-Gorlin syndrome 1 | Uncertain significance
(Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52841180-52841181
- GRCh38:
- Chr1:52375508-52375509
| ORC1 | S737*, S742* | not provided, Meier-Gorlin syndrome 1 | Conflicting interpretations of pathogenicity
(Sep 26, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52861899
- GRCh38:
- Chr1:52396227
| ORC1 | Q180H | Meier-Gorlin syndrome 1, not provided | Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52861831
- GRCh38:
- Chr1:52396159
| ORC1 | T203I | Meier-Gorlin syndrome 1, not provided, not specified
| Uncertain significance
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52841179
- GRCh38:
- Chr1:52375507
| ORC1 | | not specified, Meier-Gorlin syndrome 1, not provided
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52863372
- GRCh38:
- Chr1:52397700
| ORC1 | | Meier-Gorlin syndrome 1, not specified | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52863367
- GRCh38:
- Chr1:52397695
| ORC1 | G131V | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52862004
- GRCh38:
- Chr1:52396332
| ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52861904
- GRCh38:
- Chr1:52396232
| ORC1 | P179T | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52854937
- GRCh38:
- Chr1:52389265
| ORC1 | R380L | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52854213
- GRCh38:
- Chr1:52388541
| ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52851575
- GRCh38:
- Chr1:52385903
| ORC1 | R477Q, R472Q | Inborn genetic diseases, Meier-Gorlin syndrome 1 | Uncertain significance
(Dec 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52850397
- GRCh38:
- Chr1:52384725
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52850306
- GRCh38:
- Chr1:52384634
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52849546
- GRCh38:
- Chr1:52383874
| ORC1 | T607A, T602A | not provided, not specified, Meier-Gorlin syndrome 1
| Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52840559
- GRCh38:
- Chr1:52374887
| ORC1 | V772I, V767I | not provided, not specified, Meier-Gorlin syndrome 1
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52840491
- GRCh38:
- Chr1:52374819
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Conflicting interpretations of pathogenicity
(Oct 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52839035
- GRCh38:
- Chr1:52373363
| ORC1 | H802Y, H797Y | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52838759
- GRCh38:
- Chr1:52373087
| ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52838627
- GRCh38:
- Chr1:52372955
| ORC1 | | Meier-Gorlin syndrome 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52838622
- GRCh38:
- Chr1:52372950
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Benign
(Jun 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52867839
- GRCh38:
- Chr1:52402167
| ORC1 | R19S | Meier-Gorlin syndrome 1, not provided, not specified
| Benign/Likely benign
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52862043
- GRCh38:
- Chr1:52396371
| ORC1 | | not provided, not specified, Meier-Gorlin syndrome 1
| Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52854179
- GRCh38:
- Chr1:52388507
| ORC1 | S440P | not specified, not provided, Meier-Gorlin syndrome 1
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52854890
- GRCh38:
- Chr1:52389218
| ORC1 | R396W | Meier-Gorlin syndrome 1, not provided, not specified
| Benign/Likely benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52859391
- GRCh38:
- Chr1:52393719
| ORC1 | S269L | not specified, not provided, Meier-Gorlin syndrome 1
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52861871
- GRCh38:
- Chr1:52396199
| ORC1 | V190M | not specified, not provided, Meier-Gorlin syndrome 1
| Benign
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52838992
- GRCh38:
- Chr1:52373320
| ORC1 | M816T, M811T | not provided, Meier-Gorlin syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52839012
- GRCh38:
- Chr1:52373340
| ORC1 | | not provided, Meier-Gorlin syndrome 1 | Benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52851599
- GRCh38:
- Chr1:52385927
| ORC1 | C469Y, C464Y | not specified, not provided, Meier-Gorlin syndrome 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52851608
- GRCh38:
- Chr1:52385936
| ORC1 | T466M, T461M | not provided, Meier-Gorlin syndrome 1 | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52854961
- GRCh38:
- Chr1:52389289
| ORC1 | A372V | not specified, not provided, Meier-Gorlin syndrome 1
| Benign
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52849109
- GRCh38:
- Chr1:52383437
| ORC1 | R666W, R661W | not provided | Uncertain significance
(Oct 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:52850936
- GRCh38:
- Chr1:52385264
| ORC1 | | Meier-Gorlin syndrome 1 | Pathogenic
(Feb 27, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:52849105-52849106
- GRCh38:
- Chr1:52383433-52383434
| ORC1 | V662fs, V667fs | Meier-Gorlin syndrome 1 | Pathogenic
(Feb 27, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:52841246
- GRCh38:
- Chr1:52375574
| ORC1 | R720Q, R715Q | not provided | Likely pathogenic
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52863445
- GRCh38:
- Chr1:52397773
| ORC1 | R105Q | Meier-Gorlin syndrome, not provided, Meier-Gorlin syndrome 1
| Pathogenic/Likely pathogenic
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:52863493
- GRCh38:
- Chr1:52397821
| ORC1 | F89S | ORC1-related condition, not provided | Conflicting interpretations of pathogenicity
(Jul 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:52863379
- GRCh38:
- Chr1:52397707
| ORC1 | E127G | Meier-Gorlin syndrome 1 | Pathogenic
(Feb 27, 2011) | no assertion criteria provided |