| - GRCh37:
- Chr15:37390287-37390291
- GRCh38:
- Chr15:37098086-37098090
| MEIS2 | H28fs, H41fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(May 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329134-37329138
- GRCh38:
- Chr15:37036933-37036937
| MEIS2 | A172fs, A247fs, A260fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385811
- GRCh38:
- Chr15:37093610
| MEIS2 | S116A, S191A, S204A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Nov 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37186996
- GRCh38:
- Chr15:36894795
| MEIS2 | G294S, G369S, G376S, G382S, G389S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37388550
- GRCh38:
- Chr15:37096349
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37387749
- GRCh38:
- Chr15:37095548
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187335
- GRCh38:
- Chr15:36895134
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37186993
- GRCh38:
- Chr15:36894792
| MEIS2 | M295V, M383V, M390V, M370V, M377V | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37387827-37387828
- GRCh38:
- Chr15:37095626-37095627
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37391662
- GRCh38:
- Chr15:37099461
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390419
- GRCh38:
- Chr15:37098218
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390211
- GRCh38:
- Chr15:37098010
| MEIS2 | A68S, A55S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385842
- GRCh38:
- Chr15:37093641
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187005
- GRCh38:
- Chr15:36894804
| MEIS2 | S291fs, S366fs, S373fs, S379fs, S386fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187385
- GRCh38:
- Chr15:36895184
| MEIS2 | D277fs, D352fs, D359fs, D365fs, D372fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188879
- GRCh38:
- Chr15:36896678
| MEIS2 | N241S, N316S, N329S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188866
- GRCh38:
- Chr15:36896665
| MEIS2 | R245S, R320S, R333S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242595
- GRCh38:
- Chr15:36950394
| MEIS2 | Y215N, Y290N, Y303N | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242529
- GRCh38:
- Chr15:36950328
| MEIS2 | N237D, N312D, N325D | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:37390177
- GRCh38:
- Chr15:37097976
| MEIS2 | A66G, A79G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390280
- GRCh38:
- Chr15:37098079
| MEIS2 | L32V, L45V | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242586
- GRCh38:
- Chr15:36950385
| MEIS2 | E218K, E293K, E306K | not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37242599
- GRCh38:
- Chr15:36950398
| MEIS2 | H213Q, H288Q, H301Q | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr15:37077545-37133704
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188840
- GRCh38:
- Chr15:36896639
| MEIS2 | S254*, S329*, S342* | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187334
- GRCh38:
- Chr15:36895133
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Mar 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37388648
- GRCh38:
- Chr15:37096447
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Mar 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390293
- GRCh38:
- Chr15:37098092
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(May 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390419
- GRCh38:
- Chr15:37098218
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329018
- GRCh38:
- Chr15:37036817
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385781
- GRCh38:
- Chr15:37093580
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(Dec 19, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:37385814
- GRCh38:
- Chr15:37093613
| MEIS2 | L115I, L190I, L203I | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329135
- GRCh38:
- Chr15:37036934
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Jan 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385916
- GRCh38:
- Chr15:37093715
| MEIS2 | D156N, D169N, D81N | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37188834
- GRCh38:
- Chr15:36896633
| MEIS2 | R331Q, R256Q, R344Q | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390396
- GRCh38:
- Chr15:37098195
| MEIS2 | D6A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375975
- GRCh38:
- Chr15:37083774
| MEIS2 | Q163*, Q238*, Q251* | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37341038
- GRCh38:
- Chr15:37048837
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Mar 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242534
- GRCh38:
- Chr15:36950333
| MEIS2 | V235G, V310G, V323G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187457
- GRCh38:
- Chr15:36895256
| MEIS2 | L335fs, L348fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Sep 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242523
- GRCh38:
- Chr15:36950322
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(Sep 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188873
- GRCh38:
- Chr15:36896672
| MEIS2 | R243K, R318K, R331K | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(Dec 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390389
- GRCh38:
- Chr15:37098188
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385841
- GRCh38:
- Chr15:37093640
| MEIS2 | G106S, G181S, G194S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(May 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385818
- GRCh38:
- Chr15:37093617
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Feb 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385938
- GRCh38:
- Chr15:37093737
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375993
- GRCh38:
- Chr15:37083792
| MEIS2 | G157R, G232R, G245R | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329038
- GRCh38:
- Chr15:37036837
| MEIS2 | A280P, A205P, A293P | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Apr 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390246
- GRCh38:
- Chr15:37098045
| MEIS2 | P56Q, P43Q | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37388484
- GRCh38:
- Chr15:37096283
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242538
- GRCh38:
- Chr15:36950337
| MEIS2 | Q234E, Q309E, Q322E | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic
(Jan 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:37187370
- GRCh38:
- Chr15:36895169
| MEIS2 | M282L, M364L, M370L, M377L, M357L | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390316
- GRCh38:
- Chr15:37098115
| MEIS2 | I20V, I33V | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242565-37242568
- GRCh38:
- Chr15:36950364-36950367
| MEIS2 | L224fs, L299fs, L312fs | Inborn genetic diseases, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic/Likely pathogenic
(Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37385926
- GRCh38:
- Chr15:37093725
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Oct 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390263
- GRCh38:
- Chr15:37098062
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Sep 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37376039
- GRCh38:
- Chr15:37083838
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390176
- GRCh38:
- Chr15:37097975
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Jun 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385791
- GRCh38:
- Chr15:37093590
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242563
- GRCh38:
- Chr15:36950362
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37376069
- GRCh38:
- Chr15:37083868
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(May 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329105
- GRCh38:
- Chr15:37036904
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390271
- GRCh38:
- Chr15:37098070
| MEIS2 | T35A, T48A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385843-37385845
- GRCh38:
- Chr15:37093642-37093644
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not provided | Uncertain significance
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37329089-37329090
- GRCh38:
- Chr15:37036888-37036889
| MEIS2 | R276fs, R263fs, R188fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(Oct 13, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:37390317
- GRCh38:
- Chr15:37098116
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Dec 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385914
- GRCh38:
- Chr15:37093713
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37386746
- GRCh38:
- Chr15:37094545
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign
(Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375994
- GRCh38:
- Chr15:37083793
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385810
- GRCh38:
- Chr15:37093609
| MEIS2 | S204*, S191*, S116* | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(Dec 19, 2022) | no assertion criteria provided |
| | MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic
(Jul 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr15:37242597
- GRCh38:
- Chr15:36950396
| MEIS2 | P289L, P302L, P214L | not provided | Likely pathogenic
(Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188865-37188867
- GRCh38:
- Chr15:36896664-36896666
| MEIS2 | R320del, R333del, R245del | Inborn genetic diseases, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not provided
| Pathogenic/Likely pathogenic
(Apr 21, 2023) | criteria provided, multiple submitters, no conflicts |