| - GRCh37:
- Chr10:115366042
- GRCh38:
- Chr10:113606283
| NRAP | | Primary dilated cardiomyopathy | Uncertain significance (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105977828
- GRCh38:
- Chr2:105361371
| C2orf49, FHL2 | C137S, C143S, C251S | Primary dilated cardiomyopathy | Uncertain significance (Nov 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186444496-186456588
| PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19864628-19883124
| TXNRD2 | | Primary dilated cardiomyopathy | Uncertain significance (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21120120
- GRCh38:
- Chr10:20831191
| NEBL | | Primary dilated cardiomyopathy | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21147285
- GRCh38:
- Chr10:20858356
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Jan 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425729
- GRCh38:
- Chr4:185504575
| PDLIM3 | A181fs, A102fs, A269fs, A221fs | Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy | Uncertain significance (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21102962
- GRCh38:
- Chr10:20814033
| NEBL | T751I | Primary dilated cardiomyopathy | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21129782
- GRCh38:
- Chr10:20840853
| NEBL | | Primary dilated cardiomyopathy | Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186435412
- GRCh38:
- Chr4:185514258
| LOC126807246, PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21074831
- GRCh38:
- Chr10:20785902
| NEBL | D201N, D184N, D204N, D220N, D964N, R219Q, D198N, D251N | Primary dilated cardiomyopathy | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21115365
- GRCh38:
- Chr10:20826436
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425683
- GRCh38:
- Chr4:185504529
| PDLIM3 | G196D, G236D, G117D, G284D | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21106510
- GRCh38:
- Chr10:20817581
| LOC126860875, NEBL | | Primary dilated cardiomyopathy | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21076158-21076166
- GRCh38:
- Chr10:20787229-20787237
| NEBL | | Primary dilated cardiomyopathy | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105990129
- GRCh38:
- Chr2:105373672
| C2orf49, FHL2 | N73S | Primary dilated cardiomyopathy | Uncertain significance (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19868220
- GRCh38:
- Chr22:19880697
| TXNRD2 | | Primary dilated cardiomyopathy, Cardiovascular phenotype | Likely benign (Feb 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:105984011
- GRCh38:
- Chr2:105367554
| FHL2, C2orf49 | | Primary dilated cardiomyopathy | Likely benign (Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19918560
- GRCh38:
- Chr22:19931037
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Sep 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425635
- GRCh38:
- Chr4:185504481
| PDLIM3 | G212D, G300D, G133D, G252D | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21108357
- GRCh38:
- Chr10:20819428
| NEBL | S684N | Primary dilated cardiomyopathy | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186444577
- GRCh38:
- Chr4:185523423
| PDLIM3 | P90L | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21120505
- GRCh38:
- Chr10:20831576
| NEBL | Y486C | Primary dilated cardiomyopathy | Uncertain significance (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19885644
- GRCh38:
- Chr22:19898121
| TXNRD2 | L231P, L199P, L201P, L135P, L230P | Primary dilated cardiomyopathy | Uncertain significance (Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21124462
- GRCh38:
- Chr10:20835533
| NEBL | A477T | Primary dilated cardiomyopathy | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21178871
- GRCh38:
- Chr10:20889942
| NEBL | Y54C | Primary dilated cardiomyopathy | Uncertain significance (Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105990139
- GRCh38:
- Chr2:105373682
| C2orf49, FHL2 | Q70E | Primary dilated cardiomyopathy | Uncertain significance (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21097474
- GRCh38:
- Chr10:20808545
| NEBL | C909Y | Primary dilated cardiomyopathy | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21124477
- GRCh38:
- Chr10:20835548
| NEBL | Q472* | Primary dilated cardiomyopathy | Uncertain significance (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19864703-19864704
- GRCh38:
- Chr22:19877180-19877181
| TXNRD2 | C499*, C404*, C470*, C500* | Primary dilated cardiomyopathy | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186425659
- GRCh38:
- Chr4:185504505
| PDLIM3 | P292L, P125L, P204L, P244L | Inborn genetic diseases, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
| Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:19870832
- GRCh38:
- Chr22:19883309
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21112151
- GRCh38:
- Chr10:20823222
| NEBL | K650E | Primary dilated cardiomyopathy | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186435412
- GRCh38:
- Chr4:185514258
| LOC126807246, PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21074756
- GRCh38:
- Chr10:20785827
| NEBL | D223N, D276N, D226N, D229N, D209N, D245N, D989N | Primary dilated cardiomyopathy | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186423480
- GRCh38:
- Chr4:185502326
| PDLIM3 | Y188H, Y307H, Y267H, Y355H | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19885634
- GRCh38:
- Chr22:19898111
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186429615
- GRCh38:
- Chr4:185508461
| PDLIM3 | A167V | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21178790
- GRCh38:
- Chr10:20889861
| NEBL | G81fs | Primary dilated cardiomyopathy | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19929250-19929251
- GRCh38:
- Chr22:19941727-19941728
| TXNRD2 | V26fs | Primary dilated cardiomyopathy | Uncertain significance (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105990078
- GRCh38:
- Chr2:105373621
| C2orf49, FHL2 | T90I | Primary dilated cardiomyopathy | Uncertain significance (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186429552
- GRCh38:
- Chr4:185508398
| PDLIM3 | A188D | Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21101869
- GRCh38:
- Chr10:20812940
| NEBL | V101I, V104I, V98I, V120I, V783I, V84I | Primary dilated cardiomyopathy | Uncertain significance (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19883031
- GRCh38:
- Chr22:19895508
| TXNRD2 | R282Q, R283Q, R251Q, R187Q, R253Q | Primary dilated cardiomyopathy | Uncertain significance (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19867798
- GRCh38:
- Chr22:19880275
| TXNRD2 | | Primary dilated cardiomyopathy | Uncertain significance (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186429453
- GRCh38:
- Chr4:185508299
| PDLIM3 | S221I | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21124555
- GRCh38:
- Chr10:20835626
| NEBL | | Primary dilated cardiomyopathy | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19870864
- GRCh38:
- Chr22:19883341
| TXNRD2 | I357T, I261T, I356T, I327T | Primary dilated cardiomyopathy | Uncertain significance (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21169795
- GRCh38:
- Chr10:20880866
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21104536
- GRCh38:
- Chr10:20815607
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21120393
- GRCh38:
- Chr10:20831464
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19885546
- GRCh38:
- Chr22:19898023
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19885614
- GRCh38:
- Chr22:19898091
| TXNRD2 | G211E, G240E, G241E, G145E, G209E | Primary dilated cardiomyopathy | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21120175
- GRCh38:
- Chr10:20831246
| NEBL | D541Y | Primary dilated cardiomyopathy | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21108452
- GRCh38:
- Chr10:20819523
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19865926
- GRCh38:
- Chr22:19878403
| TXNRD2 | T407M, T436M, T437M, T341M | Primary dilated cardiomyopathy | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21112248
- GRCh38:
- Chr10:20823319
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21186107
- GRCh38:
- Chr10:20897178
| NEBL | K10E | Primary dilated cardiomyopathy | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105990156
- GRCh38:
- Chr2:105373699
| C2orf49, FHL2 | A64V | Primary dilated cardiomyopathy | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21124513
- GRCh38:
- Chr10:20835584
| NEBL | K460E | Primary dilated cardiomyopathy | Uncertain significance (Jul 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186427766
- GRCh38:
- Chr4:185506612
| PDLIM3 | R147W, R187W, R235W, R68W | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21120484
- GRCh38:
- Chr10:20831555
| NEBL | E493G | Primary dilated cardiomyopathy | Uncertain significance (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19905664
- GRCh38:
- Chr22:19918141
| TXNRD2 | | Primary dilated cardiomyopathy | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21120107
- GRCh38:
- Chr10:20831178
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186423641
- GRCh38:
- Chr4:185502487
| PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21178834
- GRCh38:
- Chr10:20889905
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19902764
- GRCh38:
- Chr22:19915241
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21102901
- GRCh38:
- Chr10:20813972
| NEBL | R771S | Primary dilated cardiomyopathy | Uncertain significance (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21169724
- GRCh38:
- Chr10:20880795
| NEBL | N160S | Primary dilated cardiomyopathy | Uncertain significance (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21115487
- GRCh38:
- Chr10:20826558
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21177120
- GRCh38:
- Chr10:20888191
| NEBL | T92S | Primary dilated cardiomyopathy | Uncertain significance (Jan 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105979938
- GRCh38:
- Chr2:105363481
| C2orf49, FHL2 | | Primary dilated cardiomyopathy | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186446224
- GRCh38:
- Chr4:185525070
| PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21139431
- GRCh38:
- Chr10:20850502
| NEBL | V337L | Primary dilated cardiomyopathy | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186423568
- GRCh38:
- Chr4:185502414
| PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105977881-105977882
- GRCh38:
- Chr2:105361424-105361425
| C2orf49, FHL2 | G233E, G125E, G119E | Primary dilated cardiomyopathy | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19907053
- GRCh38:
- Chr22:19919530
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105984066
- GRCh38:
- Chr2:105367609
| FHL2, C2orf49 | Y46*, Y154*, Y40* | Primary dilated cardiomyopathy | Uncertain significance (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19929224
- GRCh38:
- Chr22:19941701
| TXNRD2 | A35P, G35R | Primary dilated cardiomyopathy | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21101788
- GRCh38:
- Chr10:20812859
| NEBL | R128G, R810G, R125G, R111G, R131G, R147G | Primary dilated cardiomyopathy | Uncertain significance (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21104604
- GRCh38:
- Chr10:20815675
| NEBL | V731I | Primary dilated cardiomyopathy | Uncertain significance (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21098715
- GRCh38:
- Chr10:20809786
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21101685
- GRCh38:
- Chr10:20812756
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105979901
- GRCh38:
- Chr2:105363444
| FHL2, C2orf49 | R177W, R63W, R69W | Primary dilated cardiomyopathy | Uncertain significance (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21158784
- GRCh38:
- Chr10:20869855
| NEBL | | Primary dilated cardiomyopathy | Uncertain significance (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19883009
- GRCh38:
- Chr22:19895486
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:105979818
- GRCh38:
- Chr2:105363361
| C2orf49, FHL2 | | Primary dilated cardiomyopathy | Likely benign (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21186070
- GRCh38:
- Chr10:20897141
| NEBL | E22G | Primary dilated cardiomyopathy | Uncertain significance (Feb 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21098829
- GRCh38:
- Chr10:20809900
| NEBL | | Primary dilated cardiomyopathy | Uncertain significance (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186435506
- GRCh38:
- Chr4:185514352
| LOC126807246, PDLIM3 | | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy | Likely benign (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19902801-19902802
- GRCh38:
- Chr22:19915278-19915279
| TXNRD2 | | Primary dilated cardiomyopathy | Uncertain significance (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19865638
- GRCh38:
- Chr22:19878115
| TXNRD2 | T378A, T444A, T473A, T474A | Cardiovascular phenotype, Primary dilated cardiomyopathy | Uncertain significance (Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:106002918
- GRCh38:
- Chr2:105386461
| FHL2 | Y19C | Primary dilated cardiomyopathy | Uncertain significance (Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21158655
- GRCh38:
- Chr10:20869726
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21158788
- GRCh38:
- Chr10:20869859
| NEBL | | Primary dilated cardiomyopathy | Likely benign (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19865952
- GRCh38:
- Chr22:19878429
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19864772
- GRCh38:
- Chr22:19877249
| TXNRD2 | | Primary dilated cardiomyopathy | Likely benign (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:186427825
- GRCh38:
- Chr4:185506671
| PDLIM3 | | Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy | Likely benign (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:21115412
- GRCh38:
- Chr10:20826483
| NEBL | | Primary dilated cardiomyopathy | Likely benign (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:19907084
- GRCh38:
- Chr22:19919561
| TXNRD2 | V71M, V39M, V70M, V41M | Primary dilated cardiomyopathy | Uncertain significance (Apr 20, 2022) | criteria provided, single submitter |