| - GRCh37:
- Chr3:9984806
- GRCh38:
- Chr3:9943122
| CRELD1 | R260L, R288L | Congenital heart defects, multiple types, 4 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr3:9976567
- GRCh38:
- Chr3:9934883
| CRELD1 | W75R | Congenital heart defects, multiple types, 4 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:96880700
- GRCh38:
- Chr15:96337471
| NR2F2 | L212H, L232H, L365H | Congenital heart defects, multiple types, 4 | Uncertain significance
(May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880622
- GRCh38:
- Chr15:96337393
| NR2F2 | K187fs, K207fs, K340fs | Congenital heart defects, multiple types, 4 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877510
- GRCh38:
- Chr15:96334281
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875537
- GRCh38:
- Chr15:96332308
| NR2F2 | S68N | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880840
- GRCh38:
- Chr15:96337611
| NR2F2 | A259S, A279S, A412S | Congenital heart defects, multiple types, 4 | Uncertain significance
(Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875429
- GRCh38:
- Chr15:96332200
| NR2F2 | P32R | Congenital heart defects, multiple types, 4 | Uncertain significance
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877549
- GRCh38:
- Chr15:96334320
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875571
- GRCh38:
- Chr15:96332342
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877419-96877420
- GRCh38:
- Chr15:96334190-96334191
| NR2F2 | R187fs, R34fs, R54fs | Congenital heart defects, multiple types, 4 | Likely pathogenic
(May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875752
- GRCh38:
- Chr15:96332523
| NR2F2 | L140F | Congenital heart defects, multiple types, 4 | Uncertain significance
(Jun 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr20:55803373
- GRCh38:
- Chr20:57228317
| BMP7 | R175W | Congenital heart defects, multiple types, 4 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:96875544
- GRCh38:
- Chr15:96332315
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Mar 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877330
- GRCh38:
- Chr15:96334101
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877300
- GRCh38:
- Chr15:96334071
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877842-96877843
- GRCh38:
- Chr15:96334613-96334614
| NR2F2 | | Congenital heart defects, multiple types, 4 | Benign
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875598
- GRCh38:
- Chr15:96332369
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Nov 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880812
- GRCh38:
- Chr15:96337583
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Nov 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880566
- GRCh38:
- Chr15:96337337
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Dec 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877850
- GRCh38:
- Chr15:96334621
| NR2F2 | | Congenital heart defects, multiple types, 4 | Benign
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877400
- GRCh38:
- Chr15:96334171
| NR2F2 | G27R, G180R, G47R | Congenital heart defects, multiple types, 4 | Uncertain significance
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877466
- GRCh38:
- Chr15:96334237
| NR2F2 | Q69*, Q202*, Q49* | Congenital heart defects, multiple types, 4 | Pathogenic
(Dec 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875335-96880851
| NR2F2 | | Congenital heart defects, multiple types, 4 | Uncertain significance
(Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880848
- GRCh38:
- Chr15:96337619
| NR2F2 | | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877553
- GRCh38:
- Chr15:96334324
| NR2F2 | P231T, P78T, P98T | Congenital heart defects, multiple types, 4 | Uncertain significance
(Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875691
- GRCh38:
- Chr15:96332462
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Feb 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877651
- GRCh38:
- Chr15:96334422
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875370
- GRCh38:
- Chr15:96332141
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Apr 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875748
- GRCh38:
- Chr15:96332519
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Mar 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877780
- GRCh38:
- Chr15:96334551
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Feb 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877705
- GRCh38:
- Chr15:96334476
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875603
- GRCh38:
- Chr15:96332374
| NR2F2 | H90R | Congenital heart defects, multiple types, 4, Neurodevelopmental disorder | Uncertain significance
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:96877544
- GRCh38:
- Chr15:96334315
| NR2F2 | R75W, R95W, R228W | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875353
- GRCh38:
- Chr15:96332124
| NR2F2 | T7A | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875643
- GRCh38:
- Chr15:96332414
| NR2F2 | F103L | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877533
- GRCh38:
- Chr15:96334304
| NR2F2 | V91D, V224D, V71D | Congenital heart defects, multiple types, 4 | Uncertain significance
(Oct 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875338
- GRCh38:
- Chr15:96332109
| NR2F2 | A2S | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880606
- GRCh38:
- Chr15:96337377
| NR2F2 | V181L, V334L, V201L | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875426-96875432
- GRCh38:
- Chr15:96332197-96332203
| NR2F2 | P33fs | Congenital heart defects, multiple types, 4, 46,xx sex reversal 5 | Pathogenic
(Jun 2, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:96875610
- GRCh38:
- Chr15:96332381
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877810
- GRCh38:
- Chr15:96334581
| NR2F2 | K163N, K183N, K316N | Congenital heart defects, multiple types, 4 | Uncertain significance
(Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875551
- GRCh38:
- Chr15:96332322
| NR2F2 | Q73* | Congenital heart defects, multiple types, 4 | Pathogenic
(Dec 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880693
- GRCh38:
- Chr15:96337464
| NR2F2 | L363I, L210I, L230I | Congenital heart defects, multiple types, 4 | Uncertain significance
(Feb 5, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:96877820
- GRCh38:
- Chr15:96334591
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877744
- GRCh38:
- Chr15:96334515
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Oct 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96880614
- GRCh38:
- Chr15:96337385
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Mar 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877678
- GRCh38:
- Chr15:96334449
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Apr 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875538
- GRCh38:
- Chr15:96332309
| NR2F2 | S68R | Congenital heart defects, multiple types, 4 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877608
- GRCh38:
- Chr15:96334379
| NR2F2 | W249*, W116*, W96* | Congenital heart defects, multiple types, 4 | Uncertain significance
(Sep 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96878571-96880063
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely pathogenic
(May 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875415-96875416
- GRCh38:
- Chr15:96332186-96332187
| NR2F2 | V29fs | Congenital heart defects, multiple types, 4 | Likely pathogenic
(Nov 7, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877399
- GRCh38:
- Chr15:96334170
| NR2F2 | | Congenital heart defects, multiple types, 4, 46,xx sex reversal 5, Congenital heart defects, multiple types, 4
| Benign/Likely benign
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:96875581
- GRCh38:
- Chr15:96332352
| NR2F2 | G83* | Congenital heart defects, multiple types, 4 | Pathogenic
(Jun 2, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:96877696
- GRCh38:
- Chr15:96334467
| NR2F2 | | not provided, Congenital heart defects, multiple types, 4 | Benign
(Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:96877716-96877717
- GRCh38:
- Chr15:96334487-96334488
| NR2F2 | V133fs, V153fs, V286fs | not provided | Pathogenic
(Jun 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877571
- GRCh38:
- Chr15:96334342
| NR2F2 | Q104*, Q237*, Q84* | Congenital heart defects, multiple types, 4 | Uncertain significance
(Mar 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96875463
- GRCh38:
- Chr15:96332234
| NR2F2 | | Congenital heart defects, multiple types, 4 | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:96877833
- GRCh38:
- Chr15:96334604
| NR2F2 | | Congenital heart defects, multiple types, 4 | Pathogenic
(Apr 3, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr15:96875542-96875543
- GRCh38:
- Chr15:96332313-96332314
| NR2F2 | | Congenital heart defects, multiple types, 4 | Pathogenic
(Apr 3, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr15:96877476
- GRCh38:
- Chr15:96334247
| NR2F2 | N205I, N72I, N52I | Congenital heart defects, multiple types, 4 | Pathogenic
(Apr 3, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr15:96880628
- GRCh38:
- Chr15:96337399
| NR2F2 | S341Y, S208Y, S188Y | not provided, Asplenia | Pathogenic/Likely pathogenic
(Sep 25, 2021) | criteria provided, multiple submitters, no conflicts |