| - GRCh37:
- Chr7:104717818-104717824
- GRCh38:
- Chr7:105077371-105077377
| KMT2E | Y358fs | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Sep 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104753279-104753280
- GRCh38:
- Chr7:105112832-105112833
| KMT2E | P1694fs, P1652fs | O'Donnell-Luria-Rodan syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:104753685-104753686
- GRCh38:
- Chr7:105113238-105113239
| KMT2E | Q1829fs, Q1787fs | O'Donnell-Luria-Rodan syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:104753740-104753742
- GRCh38:
- Chr7:105113293-105113295
| KMT2E | T1805del, T1847del | O'Donnell-Luria-Rodan syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:104681412
- GRCh38:
- Chr7:105040965
| KMT2E | I5F | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104702725
- GRCh38:
- Chr7:105062278
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Jun 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104753422
- GRCh38:
- Chr7:105112975
| KMT2E | H1740fs | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Apr 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104719375
- GRCh38:
- Chr7:105078928
| KMT2E | R405* | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752898
- GRCh38:
- Chr7:105112451
| KMT2E | N1523K, N1565K | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104730563-104730570
- GRCh38:
- Chr7:105090116-105090123
| KMT2E | G492fs | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752939
- GRCh38:
- Chr7:105112492
| KMT2E | Q1537L, Q1579L | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jan 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104717627
- GRCh38:
- Chr7:105077180
| KMT2E | K329T | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752852-104752860
- GRCh38:
- Chr7:105112405-105112413
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Feb 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104717632
- GRCh38:
- Chr7:105077185
| KMT2E | P331S | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104753454
- GRCh38:
- Chr7:105113007
| KMT2E | P1709S, P1751S | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(May 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104681413
- GRCh38:
- Chr7:105040966
| KMT2E | I5N | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104746010
- GRCh38:
- Chr7:105105563
| KMT2E | L774S | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104703927
- GRCh38:
- Chr7:105063480
| KMT2E | I106V | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104745991
- GRCh38:
- Chr7:105105544
| KMT2E | A768T | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104749396
- GRCh38:
- Chr7:105108949
| KMT2E | L1159P | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104750755
- GRCh38:
- Chr7:105110308
| KMT2E | R1262* | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Nov 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752743
- GRCh38:
- Chr7:105112296
| KMT2E | T1472A, T1514A | not provided, O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104747828
- GRCh38:
- Chr7:105107381
| KMT2E | T975I | O'Donnell-Luria-Rodan syndrome, Inborn genetic diseases | Uncertain significance
(Dec 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104717587
- GRCh38:
- Chr7:105077140
| KMT2E | M316L | O'Donnell-Luria-Rodan syndrome, not provided | Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:104752690-104752692
- GRCh38:
- Chr7:105112243-105112245
| KMT2E | Q1454del, Q1496del | O'Donnell-Luria-Rodan syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr7:104730484-104730485
- GRCh38:
- Chr7:105090037-105090038
| KMT2E | K463fs | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Dec 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104730567-104730568
- GRCh38:
- Chr7:105090120-105090121
| KMT2E | K494fs | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752957
- GRCh38:
- Chr7:105112510
| KMT2E | G1543E, G1585E | O'Donnell-Luria-Rodan syndrome | Likely benign
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104717488
- GRCh38:
- Chr7:105077041
| KMT2E | R283* | not provided, O'Donnell-Luria-Rodan syndrome | Pathogenic
(May 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104752447
- GRCh38:
- Chr7:105112000
| KMT2E | H1373P, H1415P | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752943-104752944
- GRCh38:
- Chr7:105112496-105112497
| KMT2E | F1582fs | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104747645-104747646
- GRCh38:
- Chr7:105107198-105107199
| KMT2E | K961fs | O'Donnell-Luria-Rodan syndrome, Global developmental delay | Likely pathogenic
(Aug 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104749389
- GRCh38:
- Chr7:105108942
| KMT2E | V1157I | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Feb 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr7:104722235
- GRCh38:
- Chr7:105081788
| KMT2E | Y450C | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104750931-104750932
- GRCh38:
- Chr7:105110484-105110485
| KMT2E | S1285fs | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104747165
- GRCh38:
- Chr7:105106718
| KMT2E | Y931* | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Mar 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104703789
- GRCh38:
- Chr7:105063342
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104741941
- GRCh38:
- Chr7:105101494
| KMT2E | R598G | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104749649
- GRCh38:
- Chr7:105109202
| KMT2E | S1243R | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(May 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104750987
- GRCh38:
- Chr7:105110540
| KMT2E | S1303* | O'Donnell-Luria-Rodan syndrome | Pathogenic
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104751062
- GRCh38:
- Chr7:105110615
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Feb 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104746456-104746457
- GRCh38:
- Chr7:105106009-105106010
| KMT2E | | O'Donnell-Luria-Rodan syndrome, not provided | Conflicting interpretations of pathogenicity
(May 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:104749408-104749409
- GRCh38:
- Chr7:105108961-105108962
| KMT2E | K1164* | not provided, O'Donnell-Luria-Rodan syndrome | Pathogenic/Likely pathogenic
(Jun 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104715203
- GRCh38:
- Chr7:105074756
| KMT2E | N224H | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jul 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104746384
- GRCh38:
- Chr7:105105937
| KMT2E | R844G | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jun 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752981
- GRCh38:
- Chr7:105112534
| KMT2E | T1593I | Inborn genetic diseases, O'Donnell-Luria-Rodan syndrome | Uncertain significance
(May 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104730300-104791108
| KMT2E, SRPK2 | | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104696686-105407628
| ATXN7L1, KMT2E, PUS7, RINT1, SRPK2 | | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104747611
- GRCh38:
- Chr7:105107164
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104716529
- GRCh38:
- Chr7:105076082
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104703875
- GRCh38:
- Chr7:105063428
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104702722-104702727
- GRCh38:
- Chr7:105062275-105062280
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104747084-104747085
- GRCh38:
- Chr7:105106637-105106638
| KMT2E | M906fs | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104742606-104742609
- GRCh38:
- Chr7:105102159-105102162
| KMT2E | K722fs | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104731684-104731688
- GRCh38:
- Chr7:105091237-105091241
| KMT2E | I549fs | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104681463
- GRCh38:
- Chr7:105041016
| KMT2E | G22fs | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104752482
- GRCh38:
- Chr7:105112035
| KMT2E | Q1427* | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104747938
- GRCh38:
- Chr7:105107491
| KMT2E | Q1012* | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104753026-104753027
- GRCh38:
- Chr7:105112579-105112580
| KMT2E | L1610fs | O'Donnell-Luria-Rodan syndrome, not provided | Pathogenic/Likely pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104752438
- GRCh38:
- Chr7:105111991
| KMT2E | S1412L | O'Donnell-Luria-Rodan syndrome, not provided | Uncertain significance
(Nov 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104750728
- GRCh38:
- Chr7:105110281
| KMT2E | T1253A | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jan 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104747612
- GRCh38:
- Chr7:105107165
| KMT2E | | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(May 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104730470
- GRCh38:
- Chr7:105090023
| KMT2E | D458V | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Nov 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104742552
- GRCh38:
- Chr7:105102105
| KMT2E | E703* | O'Donnell-Luria-Rodan syndrome, Neurodevelopmental disorder | Pathogenic
(Apr 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104742367
- GRCh38:
- Chr7:105101920
| KMT2E | T641S | O'Donnell-Luria-Rodan syndrome | Uncertain significance
(Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104717848-104717849
- GRCh38:
- Chr7:105077401-105077402
| KMT2E | E369fs | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104753255-104753256
- GRCh38:
- Chr7:105112808-105112809
| KMT2E | P1686fs | O'Donnell-Luria-Rodan syndrome, not provided | Pathogenic/Likely pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104750995-104750996
- GRCh38:
- Chr7:105110548-105110549
| KMT2E | P1307fs | O'Donnell-Luria-Rodan syndrome | Likely pathogenic
(Aug 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104749590-104749591
- GRCh38:
- Chr7:105109143-105109144
| KMT2E | | O'Donnell-Luria-Rodan syndrome, See cases | Pathogenic/Likely pathogenic
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104747092
- GRCh38:
- Chr7:105106645
| KMT2E | D907V | See cases | Likely pathogenic
(Feb 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104707175
- GRCh38:
- Chr7:105066728
| KMT2E | V140I | not provided, See cases | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104707206-104707207
- GRCh38:
- Chr7:105066759-105066760
| KMT2E | R151* | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Jul 25, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr7:104749474
- GRCh38:
- Chr7:105109027
| KMT2E | S1185* | O'Donnell-Luria-Rodan syndrome, See cases | Likely pathogenic
(Feb 7, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104746306
- GRCh38:
- Chr7:105105859
| KMT2E | R818* | See cases | Likely pathogenic
(Feb 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104741923-104741927
- GRCh38:
- Chr7:105101476-105101480
| KMT2E | K593fs | O'Donnell-Luria-Rodan syndrome, See cases, not provided
| Pathogenic/Likely pathogenic
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:104742492-104742493
- GRCh38:
- Chr7:105102045-105102046
| KMT2E | E685* | O'Donnell-Luria-Rodan syndrome | Pathogenic
(Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:104707170-104707171
- GRCh38:
- Chr7:105066723-105066724
| KMT2E | | O'Donnell-Luria-Rodan syndrome, not provided | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |