| - GRCh37:
- Chr11:111782258
- GRCh38:
- Chr11:111911534
| CRYAB | G64E | Dilated cardiomyopathy 1II | Uncertain significance (Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779488-111782448
| CRYAB | | Dilated cardiomyopathy 1II | Pathogenic (Dec 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779520
- GRCh38:
- Chr11:111908796
| CRYAB | K166*, K99* | Dilated cardiomyopathy 1II | Uncertain significance (Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781032
- GRCh38:
- Chr11:111910308
| CRYAB | | Dilated cardiomyopathy 1II | Benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782389
- GRCh38:
- Chr11:111911665
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782371
- GRCh38:
- Chr11:111911647
| CRYAB | Q26H | Dilated cardiomyopathy 1II | Uncertain significance (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781032
- GRCh38:
- Chr11:111910308
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781127-111781129
- GRCh38:
- Chr11:111910403-111910405
| CRYAB | | Dilated cardiomyopathy 1II | Uncertain significance (May 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779621
- GRCh38:
- Chr11:111908897
| CRYAB | T132I, T65I | Dilated cardiomyopathy 1II | Uncertain significance (Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782256
- GRCh38:
- Chr11:111911532
| CRYAB | L65I | Dilated cardiomyopathy 1II | Uncertain significance (Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781046
- GRCh38:
- Chr11:111910322
| CRYAB | | Dilated cardiomyopathy 1II | Uncertain significance (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779565
- GRCh38:
- Chr11:111908841
| CRYAB | Q84E, Q151E | Dilated cardiomyopathy 1II | Uncertain significance (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779578
- GRCh38:
- Chr11:111908854
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779630
- GRCh38:
- Chr11:111908906
| CRYAB | D62G, D129G | Dilated cardiomyopathy 1II | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781075
- GRCh38:
- Chr11:111910351
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782276
- GRCh38:
- Chr11:111911552
| CRYAB | P58L | Dilated cardiomyopathy 1II | Uncertain significance (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779550-111779551
- GRCh38:
- Chr11:111908826-111908827
| CRYAB | E156*, E89* | Dilated cardiomyopathy 1II | Uncertain significance (Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782332
- GRCh38:
- Chr11:111911608
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779583
- GRCh38:
- Chr11:111908859
| CRYAB | V145M, V78M | Dilated cardiomyopathy 1II | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781181
- GRCh38:
- Chr11:111910457
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779511-111779517
- GRCh38:
- Chr11:111908787-111908793
| CRYAB | P100fs, P167fs | Dilated cardiomyopathy 1II | Uncertain significance (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779696
- GRCh38:
- Chr11:111908972
| CRYAB | | Dilated cardiomyopathy 1II | Uncertain significance (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782361
- GRCh38:
- Chr11:111911637
| CRYAB | E30K | Dilated cardiomyopathy 1II | Uncertain significance (Jul 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782442
- GRCh38:
- Chr11:111911718
| CRYAB | I3V | Dilated cardiomyopathy 1II | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779497
- GRCh38:
- Chr11:111908773
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779505
- GRCh38:
- Chr11:111908781
| CRYAB | A104S, A171S | Dilated cardiomyopathy 1II | Uncertain significance (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779602
- GRCh38:
- Chr11:111908878
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Oct 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782254
- GRCh38:
- Chr11:111911530
| CRYAB | | Cardiovascular phenotype, Dilated cardiomyopathy 1II | Likely benign (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782447
- GRCh38:
- Chr11:111911723
| CRYAB | M1T | Dilated cardiomyopathy 1II, not provided | Conflicting interpretations of pathogenicity (Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111781108
- GRCh38:
- Chr11:111910384
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782238
- GRCh38:
- Chr11:111911514
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Sep 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781038
- GRCh38:
- Chr11:111910314
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (May 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779700
- GRCh38:
- Chr11:111908976
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Apr 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781155
- GRCh38:
- Chr11:111910431
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781040
- GRCh38:
- Chr11:111910316
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Oct 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779536
- GRCh38:
- Chr11:111908812
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781189
- GRCh38:
- Chr11:111910465
| CRYAB | | Dilated cardiomyopathy 1II | Benign (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782383
- GRCh38:
- Chr11:111911659
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782314
- GRCh38:
- Chr11:111911590
| CRYAB | | Dilated cardiomyopathy 1II, Cardiovascular phenotype | Likely benign (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782353
- GRCh38:
- Chr11:111911629
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782231
- GRCh38:
- Chr11:111911507
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782319
- GRCh38:
- Chr11:111911595
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (May 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779615
- GRCh38:
- Chr11:111908891
| CRYAB | T134I, T67I | Dilated cardiomyopathy 1II | Uncertain significance (Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782429
- GRCh38:
- Chr11:111911705
| CRYAB | H7R | Dilated cardiomyopathy 1II | Uncertain significance (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779654
- GRCh38:
- Chr11:111908930
| CRYAB | K54R, K121R | Dilated cardiomyopathy 1II, Myofibrillar myopathy 2, Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II | Uncertain significance (Dec 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779513
- GRCh38:
- Chr11:111908789
| CRYAB | A101G, A168G | Myofibrillar myopathy 2, Dilated cardiomyopathy 1II | Uncertain significance (Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779559
- GRCh38:
- Chr11:111908835
| CRYAB | S153A, S86A | Dilated cardiomyopathy 1II | Uncertain significance (Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779640
- GRCh38:
- Chr11:111908916
| CRYAB | A59fs, A126fs | Dilated cardiomyopathy 1II | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782301
- GRCh38:
- Chr11:111911577
| CRYAB | R50W | Dilated cardiomyopathy 1II, not provided, Cataract 16 multiple types
| Uncertain significance (Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782393
- GRCh38:
- Chr11:111911669
| CRYAB | S19F | Dilated cardiomyopathy 1II | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779488-111780026
| CRYAB | | Dilated cardiomyopathy 1II | Pathogenic (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782432
- GRCh38:
- Chr11:111911708
| CRYAB | H6L | Inborn genetic diseases, Dilated cardiomyopathy 1II | Uncertain significance (Dec 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779635
- GRCh38:
- Chr11:111908911
| CRYAB | D127E, D60E | Dilated cardiomyopathy 1II | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782411
- GRCh38:
- Chr11:111911687
| CRYAB | P13L | Dilated cardiomyopathy 1II | Uncertain significance (Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779492
- GRCh38:
- Chr11:111908768
| CRYAB | K108I, K175I | Dilated cardiomyopathy 1II | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779478-111961866
| NKAPD1, HSPB2, C11orf52, DLAT, TIMM8B, CRYAB, DIXDC1, SDHD, PIH1D2 | | Dilated cardiomyopathy 1II | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781056
- GRCh38:
- Chr11:111910332
| CRYAB | R107C, R40C | Dilated cardiomyopathy 1II, not provided, Dilated cardiomyopathy 1II, Cataract 16 multiple types, Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy
| Uncertain significance (Feb 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779589
- GRCh38:
- Chr11:111908865
| CRYAB | L76V, L143V | Dilated cardiomyopathy 1II | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779619
- GRCh38:
- Chr11:111908895
| CRYAB | I133V, I66V | Dilated cardiomyopathy 1II | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781047-111781048
- GRCh38:
- Chr11:111910323-111910324
| CRYAB | | Dilated cardiomyopathy 1II | Uncertain significance (May 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779531
- GRCh38:
- Chr11:111908807
| CRYAB | T162I, T95I | Cardiovascular phenotype, Dilated cardiomyopathy 1II | Uncertain significance (Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782304
- GRCh38:
- Chr11:111911580
| CRYAB | L49fs | Dilated cardiomyopathy 1II | Pathogenic (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782408
- GRCh38:
- Chr11:111911684
| CRYAB | F14S | Dilated cardiomyopathy 1II, Myofibrillar myopathy 2 | Uncertain significance (May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782364
- GRCh38:
- Chr11:111911640
| CRYAB | G29R | Dilated cardiomyopathy 1II, not provided, Cardiovascular phenotype
| Uncertain significance (Jun 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782262
- GRCh38:
- Chr11:111911538
| CRYAB | T63A | Cardiovascular phenotype, Dilated cardiomyopathy 1II | Uncertain significance (Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111781046-111781047
- GRCh38:
- Chr11:111910322-111910323
| CRYAB | | Dilated cardiomyopathy 1II | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781160-111781161
- GRCh38:
- Chr11:111910436-111910437
| CRYAB | K5fs | Dilated cardiomyopathy 1II | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779540
- GRCh38:
- Chr11:111908816
| CRYAB | I159N, I92N | not provided, Dilated cardiomyopathy 1II | Uncertain significance (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782373
- GRCh38:
- Chr11:111911649
| CRYAB | Q26* | Dilated cardiomyopathy 1II | Pathogenic (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782231
- GRCh38:
- Chr11:111911507
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782365
- GRCh38:
- Chr11:111911641
| CRYAB | | Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1II
| Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779500
- GRCh38:
- Chr11:111908776
| CRYAB | | Cardiovascular phenotype, Dilated cardiomyopathy 1II | Likely benign (Apr 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782283
- GRCh38:
- Chr11:111911559
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Feb 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782251
- GRCh38:
- Chr11:111911527
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779683
- GRCh38:
- Chr11:111908959
| CRYAB | | Dilated cardiomyopathy 1II, not provided, Cardiovascular phenotype
| Likely benign (Jan 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779512
- GRCh38:
- Chr11:111908788
| CRYAB | | Cardiovascular phenotype, Dilated cardiomyopathy 1II | Likely benign (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779697
- GRCh38:
- Chr11:111908973
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779593
- GRCh38:
- Chr11:111908869
| CRYAB | | Dilated cardiomyopathy 1II | Likely benign (Sep 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779545
- GRCh38:
- Chr11:111908821
| CRYAB | | Cardiovascular phenotype, Dilated cardiomyopathy 1II | Likely benign (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111781080
- GRCh38:
- Chr11:111910356
| CRYAB | E32*, E99* | Cardiovascular phenotype, Dilated cardiomyopathy 1II | Conflicting interpretations of pathogenicity (Aug 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111779478-111782458
| CRYAB | | Dilated cardiomyopathy 1II | Pathogenic (Oct 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782415
- GRCh38:
- Chr11:111911691
| CRYAB | R12C | not provided, Dilated cardiomyopathy 1II | Conflicting interpretations of pathogenicity (Mar 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111782322
- GRCh38:
- Chr11:111911598
| CRYAB | S43A | Dilated cardiomyopathy 1II | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782412
- GRCh38:
- Chr11:111911688
| CRYAB | P13T | Cardiovascular phenotype, Dilated cardiomyopathy 1II, not provided, Cataract 16 multiple types, Dilated cardiomyopathy 1II, Fatal infantile hypertonic myofibrillar myopathy, Myofibrillar myopathy 2 | Uncertain significance (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779517
- GRCh38:
- Chr11:111908793
| CRYAB | P100A, P167A | Dilated cardiomyopathy 1II | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781170
- GRCh38:
- Chr11:111910446
| CRYAB | R2S, R69S | Dilated cardiomyopathy 1II | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782428
- GRCh38:
- Chr11:111911704
| CRYAB | H7Q | Dilated cardiomyopathy 1II | Uncertain significance (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782345
- GRCh38:
- Chr11:111911621
| CRYAB | S35F | Dilated cardiomyopathy 1II | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779643
- GRCh38:
- Chr11:111908919
| CRYAB | P125A, P58A | Dilated cardiomyopathy 1II | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781173
- GRCh38:
- Chr11:111910449
| CRYAB | M1L, M68L | not provided, Dilated cardiomyopathy 1II | Uncertain significance (Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111779583
- GRCh38:
- Chr11:111908859
| CRYAB | V145L, V78L | Inborn genetic diseases, Dilated cardiomyopathy 1II | Uncertain significance (Dec 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111781073
- GRCh38:
- Chr11:111910349
| CRYAB | H101L, H34L | Dilated cardiomyopathy 1II | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111781098
- GRCh38:
- Chr11:111910374
| CRYAB | V26L, V93L | Dilated cardiomyopathy 1II | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782414
- GRCh38:
- Chr11:111911690
| CRYAB | R12H | Dilated cardiomyopathy 1II | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782418
- GRCh38:
- Chr11:111911694
| CRYAB | R11G | Cataract 16 multiple types, Fatal infantile hypertonic myofibrillar myopathy, Dilated cardiomyopathy 1II, Myofibrillar myopathy 2, not provided, Dilated cardiomyopathy 1II
| Uncertain significance (Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782318
- GRCh38:
- Chr11:111911594
| CRYAB | L44P | Dilated cardiomyopathy 1II | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779654
- GRCh38:
- Chr11:111908930
| CRYAB | K121T, K54T | Dilated cardiomyopathy 1II | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111779528
- GRCh38:
- Chr11:111908804
| CRYAB | R163H, R96H | Dilated cardiomyopathy 1II, Cardiovascular phenotype, not provided
| Uncertain significance (Mar 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111782248
- GRCh38:
- Chr11:111911524
| CRYAB | | Dilated cardiomyopathy 1II | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111782363
- GRCh38:
- Chr11:111911639
| CRYAB | G29A | Dilated cardiomyopathy 1II | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |