| - GRCh37:
- Chr2:179454838
- GRCh38:
- Chr2:178590111
| TTN, TTN-AS1 | A11474fs, A11599fs, A11666fs, A17971fs, A18898fs, A20539fs | Primary familial dilated cardiomyopathy | Likely pathogenic
(Mar 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179427517-179427520
- GRCh38:
- Chr2:178562790-178562793
| TTN, TTN-AS1 | K18715fs, K18840fs, K18907fs, K25212fs, K26139fs, K27780fs | Primary familial dilated cardiomyopathy | Likely pathogenic
(Feb 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179418798
- GRCh38:
- Chr2:178554071
| TTN, TTN-AS1 | W20615*, W27112*, W20807*, W28039*, W20740*, W29680* | Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179432510-179432511
- GRCh38:
- Chr2:178567783-178567784
| TTN, TTN-AS1 | G17052fs, G17244fs, G17177fs, G23549fs, G24476fs, G26117fs | Cardiovascular phenotype, Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128488614-128488615
- GRCh38:
- Chr7:128848560-128848561
| FLNC | F1529fs | Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128488613
- GRCh38:
- Chr7:128848559
| FLNC | | Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128487808
- GRCh38:
- Chr7:128847754
| FLNC | S1449* | Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486196
- GRCh38:
- Chr7:128846142
| FLNC | Q1315* | Primary familial dilated cardiomyopathy | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128486160-128486161
- GRCh38:
- Chr7:128846106-128846107
| FLNC | Y1303* | Primary familial dilated cardiomyopathy | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128482862
- GRCh38:
- Chr7:128842808
| FLNC | G802fs | Primary familial dilated cardiomyopathy | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128477229
- GRCh38:
- Chr7:128837175
| FLNC | W206* | Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128497191
- GRCh38:
- Chr7:128857137
| FLNC-AS1, FLNC | I2494fs, I2527fs | Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128496635-128496636
- GRCh38:
- Chr7:128856581-128856582
| FLNC, FLNC-AS1 | V2406fs, V2439fs | Primary familial dilated cardiomyopathy | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128494646
- GRCh38:
- Chr7:128854592
| FLNC-AS1, FLNC | Q2270*, Q2303* | Primary familial dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26,
Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant | Pathogenic
(Jun 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128494481
- GRCh38:
- Chr7:128854427
| FLNC, FLNC-AS1 | Q2215*, Q2248* | Primary familial dilated cardiomyopathy | Likely pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128490961
- GRCh38:
- Chr7:128850907
| FLNC, FLNC-AS1 | Q1802*, Q1835* | Primary familial dilated cardiomyopathy | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128489575
- GRCh38:
- Chr7:128849521
| FLNC | Y1714* | Primary familial dilated cardiomyopathy | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr7:128475431
- GRCh38:
- Chr7:128835377
| FLNC | W135* | Primary familial dilated cardiomyopathy | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179466794-179466798
- GRCh38:
- Chr2:178602067-178602071
| TTN, TTN-AS1 | V9336fs, V9528fs, V18401fs, V9461fs, V15833fs, V16760fs | Primary familial dilated cardiomyopathy | Likely pathogenic
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179455458-179455459
- GRCh38:
- Chr2:178590731-178590732
| TTN, TTN-AS1 | R11266fs, R11391fs, R11458fs, R17763fs, R18690fs, R20331fs | Primary familial dilated cardiomyopathy | Likely pathogenic
(Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179495815
- GRCh38:
- Chr2:178631088
| TTN | Q12086*, Q13013*, Q14654*, Q5589*, Q5714*, Q5781* | Primary familial dilated cardiomyopathy | Likely pathogenic
(May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179404323-179404324
- GRCh38:
- Chr2:178539596-178539597
| TTN, TTN-AS1 | D23758fs, D23883fs, D23950fs, D30255fs, D31182fs, D32823fs | Primary familial dilated cardiomyopathy | Likely pathogenic
(Jan 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:112581064
- GRCh38:
- Chr10:110821306
| RBM20 | E896fs | Primary familial dilated cardiomyopathy, not provided | Conflicting interpretations of pathogenicity
(May 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:128497358-128497359
- GRCh38:
- Chr7:128857304-128857305
| FLNC, FLNC-AS1 | K2558fs, K2591fs | Distal myopathy with posterior leg and anterior hand involvement, Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5,
Hypertrophic cardiomyopathy 26, Primary familial dilated cardiomyopathy | Pathogenic/Likely pathogenic
(Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179441021
- GRCh38:
- Chr2:178576294
| LOC126806422, TTN, TTN-AS1 | Q14215*, Q14340*, Q14407*, Q20712*, Q21639*, Q23280* | Primary familial dilated cardiomyopathy | Likely pathogenic
(Aug 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179463948
- GRCh38:
- Chr2:178599221
| TTN, TTN-AS1 | R16290*, R9918*, R17217*, R18858*, R9793*, R9985* | Myopathy, myofibrillar, 9, with early respiratory failure, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, Primary familial dilated cardiomyopathy,
Cardiovascular phenotype, not provided ...see more | Pathogenic/Likely pathogenic
(Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:3394299-3632836
| TAX1BP3, ASPA, TRPV1, ITGAE, P2RX5, TRPV3, HASPIN, EMC6, CTNS, SHPK | | Primary familial dilated cardiomyopathy | Uncertain significance
(Apr 16, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:179474817
- GRCh38:
- Chr2:178610090
| TTN, TTN-AS1 | Q14578*, Q8206*, Q8273*, Q17146*, Q15505*, Q8081* | Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
Primary familial dilated cardiomyopathy, Primary dilated cardiomyopathy | Pathogenic/Likely pathogenic
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179425564
- GRCh38:
- Chr2:178560837
| TTN, TTN-AS1 | L19367fs, L19492fs, L19559fs, L25864fs, L26791fs, L28432fs | Primary familial dilated cardiomyopathy | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:179397485
- GRCh38:
- Chr2:178532758
| TTN-AS1, TTN | W25554*, W25679*, W25746*, W32051*, W32978*, W34619* | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:69881304
- GRCh38:
- Chr10:68121547
| MYPN | P37S | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr2:179605436-179605437
- GRCh38:
- Chr2:178740709-178740710
| TTN | Q3812fs, Q3858fs, Q3937fs, Q4004fs, Q4175fs | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:236925830
- GRCh38:
- Chr1:236762530
| ACTN2 | M658L, M866L | Primary familial dilated cardiomyopathy, Myopathy, distal, 6, adult-onset, autosomal dominant, Myopathy, congenital, with structured cores and z-line abnormalities,
Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
| Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:32407708
- GRCh38:
- ChrX:32389591
| DMD | M132I, M1353I, M135I, M1468I, M1472I, M1476I | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr18:29125934
- GRCh38:
- Chr18:31545971
| DSG2, DSG2-AS1 | S862T | Primary familial dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10 | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:112581622
- GRCh38:
- Chr10:110821864
| RBM20 | L1082P | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr14:23863462
- GRCh38:
- Chr14:23394253
| MYH6 | L834F | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:78399036
- GRCh38:
- Chr1:77933351
| NEXN | E311*, E375* | Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
| Conflicting interpretations of pathogenicity
(Sep 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179438196
- GRCh38:
- Chr2:178573469
| TTN, TTN-AS1 | P15158fs, P15283fs, P15350fs, P21655fs, P22582fs, P24223fs | Primary familial dilated cardiomyopathy | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- ChrX:153648608
- GRCh38:
- ChrX:154420269
| TAFAZZIN | | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:156109619
- GRCh38:
- Chr1:156139828
| LMNA | C572R | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:201334345
- GRCh38:
- Chr1:201365217
| TNNT2 | E114Q, E119Q, E129Q | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr6:7579889
- GRCh38:
- Chr6:7579656
| DSP | Q1156* | Primary familial dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
| Pathogenic/Likely pathogenic
(Aug 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:153608381
- GRCh38:
- ChrX:154380021
| EMD | | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr7:128496798
- GRCh38:
- Chr7:128856744
| FLNC-AS1, FLNC | | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr14:23899832
- GRCh38:
- Chr14:23430623
| MYH7 | F312L | Myopathy, myosin storage, autosomal recessive, Congenital myopathy with fiber type disproportion, Myosin storage myopathy,
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy,
MYH7-related late-onset scapuloperoneal muscular dystrophy, Hypertrophic cardiomyopathy, Primary familial dilated cardiomyopathy,
not provided | Uncertain significance
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:155771520
- GRCh38:
- Chr5:156344510
| SGCD | H8Y, H9Y | Dilated cardiomyopathy 1L, Autosomal recessive limb-girdle muscular dystrophy type 2F, not provided,
Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases, Primary familial dilated cardiomyopathy
| Uncertain significance
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:75871856
- GRCh38:
- Chr10:74112098
| VCL | K979E | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- ChrX:32430020
- GRCh38:
- ChrX:32411903
| DMD | R1238K, R1353K, R1357K, R1361K, R17K, R20K | Duchenne muscular dystrophy, Primary familial dilated cardiomyopathy | Uncertain significance
(Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156085005
- GRCh38:
- Chr1:156115214
| LMNA | R99P | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:121436032-121436035
- GRCh38:
- Chr10:119676520-119676523
| BAG3 | K324fs | Primary familial dilated cardiomyopathy, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Pathogenic/Likely pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179447875
- GRCh38:
- Chr2:178583148
| TTN, TTN-AS1 | T12821fs, T12946fs, T13013fs, T19318fs, T20245fs, T21886fs | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:179605692
- GRCh38:
- Chr2:178740965
| TTN | Q3727*, Q3773*, Q3852*, Q3919*, Q4090* | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr10:69926309
- GRCh38:
- Chr10:68166552
| MYPN | T326S, T620S | Primary familial dilated cardiomyopathy | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:7580187
- GRCh38:
- Chr6:7579954
| DSP | R1255K | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, Keratosis palmoplantaris striata 2,
Arrhythmogenic right ventricular dysplasia 8, Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis,
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8,
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Cardiomyopathy ...see more | Uncertain significance
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:69934389
- GRCh38:
- Chr10:68174632
| MYPN | G847V, G553V | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1KK,
MYPN-related myopathy, Dilated cardiomyopathy 1KK, not provided
| Conflicting interpretations of pathogenicity
(Jul 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:88477740
- GRCh38:
- Chr10:86717983
| LDB3 | M456V, M566V, M503V, M519V, M571V | Dilated cardiomyopathy 1C, Myofibrillar myopathy 4, Primary familial dilated cardiomyopathy,
not specified | Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:128486411
- GRCh38:
- Chr7:128846357
| FLNC | R1341* | Primary familial dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5,
Dilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement,
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Cardiovascular phenotype,
Hypertrophic cardiomyopathy 26, not provided ...see more | Pathogenic/Likely pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:3567493
- GRCh38:
- Chr17:3664199
| P2RX5-TAX1BP3, TAX1BP3 | M78T | Primary familial dilated cardiomyopathy, TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy | Conflicting interpretations of pathogenicity
(Apr 16, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179396571
- GRCh38:
- Chr2:178531844
| TTN, TTN-AS1 | S34924*, S33283*, S32356*, S25859*, S25984*, S26051* | Primary familial dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
| Likely pathogenic
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156104291
- GRCh38:
- Chr1:156134500
| LMNA | L204Q, L123Q, L92Q | Primary familial dilated cardiomyopathy | Uncertain significance
(May 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr3:38601715
- GRCh38:
- Chr3:38560224
| SCN5A | T1389A, T1390A, T1336A | Primary familial dilated cardiomyopathy | Uncertain significance
(Aug 31, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:112590819
- GRCh38:
- Chr10:110831061
| RBM20 | G1151A | Primary familial dilated cardiomyopathy | Uncertain significance
(Oct 27, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23873505
- GRCh38:
- Chr14:23404296
| MYH6 | F245L | Primary familial dilated cardiomyopathy | Pathogenic
(Feb 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr17:39914998
- GRCh38:
- Chr17:41758746
| JUP | H541L | Naxos disease, Arrhythmogenic right ventricular dysplasia 12, Primary familial dilated cardiomyopathy,
Cardiovascular phenotype | Uncertain significance
(Jul 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:31241173
- GRCh38:
- ChrX:31223056
| DMD | A3118S, A1774S, A1777S, A3114S, A389S, A658S, A3110S, A2995S, A50S | Primary familial dilated cardiomyopathy, Cardiovascular phenotype, Becker muscular dystrophy,
Dilated cardiomyopathy 3B, Duchenne muscular dystrophy, not provided,
Duchenne muscular dystrophy | Conflicting interpretations of pathogenicity
(Oct 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:22040812
- GRCh38:
- Chr12:21887878
| ABCC9 | R620Q, R332Q | Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1O, not provided
| Uncertain significance
(May 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:22078945
- GRCh38:
- Chr12:21926011
| ABCC9 | V113I | Primary familial dilated cardiomyopathy, Cardiovascular phenotype | Uncertain significance
(Jun 24, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179474569
- GRCh38:
- Chr2:178609842
| TTN, TTN-AS1 | W17194*, W15553*, W8129*, W8254*, W14626*, W8321* | Primary familial dilated cardiomyopathy | Pathogenic
(Nov 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179416921
- GRCh38:
- Chr2:178552194
| TTN, TTN-AS1 | E30236*, E21363*, E21296*, E21171*, E27668*, E28595* | Primary familial dilated cardiomyopathy | Pathogenic
(Jul 30, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:47354749
- GRCh38:
- Chr11:47333198
| MYBPC3 | T1109N | Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4, Primary familial dilated cardiomyopathy
| Uncertain significance
(Jul 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156106909
- GRCh38:
- Chr1:156137118
| LMNA | W498*, W386*, W417* | Primary familial dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2 | Pathogenic
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:156085043
- GRCh38:
- Chr1:156115252
| LMNA | E112K | Primary familial dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2, Cardiomyopathy
| Uncertain significance
(Jul 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7556029
- GRCh38:
- Chr6:7555796
| DSP | M83I | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, not provided,
Cardiomyopathy, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7585804
- GRCh38:
- Chr6:7585571
| DSP | Y2770C, Y2327C, Y2171C | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, not provided,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
| Conflicting interpretations of pathogenicity
(Aug 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7568760
- GRCh38:
- Chr6:7568527
| DSP | P453S | Primary familial dilated cardiomyopathy | Uncertain significance
(Nov 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7584451
- GRCh38:
- Chr6:7584218
| DSP | G2319D, G1720D, G1876D | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Primary familial dilated cardiomyopathy,
Keratosis palmoplantaris striata 2, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Skin fragility-woolly hair-palmoplantar keratoderma syndrome,
Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
| Uncertain significance
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:22025567
- GRCh38:
- Chr12:21872633
| ABCC9 | H730Q, H442Q | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1O
| Uncertain significance
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237870366
- GRCh38:
- Chr1:237707066
| RYR2 | H3233R | Primary familial dilated cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy,
Catecholaminergic polymorphic ventricular tachycardia 1 | Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:38645490
- GRCh38:
- Chr3:38603999
| SCN5A | R535* | Primary familial dilated cardiomyopathy, Cardiovascular phenotype, Brugada syndrome,
Cardiac arrhythmia, not provided | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- ChrX:31697652
- GRCh38:
- ChrX:31679535
| DMD | R2571Q, R111Q, R1227Q, R2448Q, R2563Q, R1230Q, R2567Q | Primary familial dilated cardiomyopathy, Duchenne muscular dystrophy, not specified,
not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179428202
- GRCh38:
- Chr2:178563475
| TTN-AS1, TTN | G25912*, G27553*, G24985*, G18488*, G18613*, G18680* | Primary familial dilated cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 9,
Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G, Tibial muscular dystrophy,
Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy, myofibrillar, 9, with early respiratory failure, not provided,
Cardiomyopathy, Dilated cardiomyopathy 1GAutosomal recessive limb-girdle muscular dystrophy type 2J,
...see more | Pathogenic/Likely pathogenic
(Mar 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179417257
- GRCh38:
- Chr2:178552530
| TTN, TTN-AS1 | E28483*, E30124*, E21251*, E21059*, E21184*, E27556* | Primary familial dilated cardiomyopathy, not provided | Likely pathogenic
(Oct 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47372097
- GRCh38:
- Chr11:47350546
| MYBPC3 | P121L | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179418640
- GRCh38:
- Chr2:178553913
| TTN, TTN-AS1 | | Cardiovascular phenotype, not provided, Primary familial dilated cardiomyopathy,
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J | Pathogenic/Likely pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179474496
- GRCh38:
- Chr2:178609769
| TTN, TTN-AS1 | Y15577*, Y17218*, Y8153*, Y8345*, Y14650*, Y8278* | Primary familial dilated cardiomyopathy, not provided | Pathogenic
(Sep 16, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121432095
- GRCh38:
- Chr10:119672583
| BAG3 | S279* | Primary familial dilated cardiomyopathy, not provided | Likely pathogenic
(Jul 28, 2016) | criteria provided, single submitter |
| | | | Congenital muscular dystrophy | Likely pathogenic
(Dec 1, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr14:23871706
- GRCh38:
- Chr14:23402497
| MYH6 | R370W | Primary familial dilated cardiomyopathy, not specified, not provided,
Hypertrophic cardiomyopathy 14 | Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:112595668
- GRCh38:
- Chr10:110835910
| RBM20 | E1206K | Dilated cardiomyopathy 1DD, Primary familial dilated cardiomyopathy, Cardiovascular phenotype,
not provided | Conflicting interpretations of pathogenicity
(Oct 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121431806-121431808
- GRCh38:
- Chr10:119672294-119672296
| BAG3 | S185del | Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6,
not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121429689
- GRCh38:
- Chr10:119670177
| BAG3 | E169D | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1HH,
Myofibrillar myopathy 6 | Uncertain significance
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47367892
- GRCh38:
- Chr11:47346341
| MYBPC3 | E319A | Primary familial dilated cardiomyopathy, Cardiovascular phenotype, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy | Uncertain significance
(Feb 6, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88476105
- GRCh38:
- Chr10:86716348
| LDB3 | P418R, P308R, P423R, P355R, P371R | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, not provided,
Myofibrillar myopathy 4, Dilated cardiomyopathy 1C, Myofibrillar myopathy 4,
not specified | Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179416867
- GRCh38:
- Chr2:178552140
| TTN-AS1, TTN | G30254*, G21314*, G21189*, G21381*, G28613*, G27686* | Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J,
Primary familial dilated cardiomyopathy, not provided, Dilated cardiomyopathy 1G
| Pathogenic/Likely pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:108397429
- GRCh38:
- Chr9:105635148
| FKTN | G424S, G292S, G401S | Walker-Warburg congenital muscular dystrophy, Primary familial dilated cardiomyopathy, not provided
| Conflicting interpretations of pathogenicity
(Jun 5, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:21238367
- GRCh38:
- Chr2:21015495
| APOB | R1128H | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, not specified,
Hypercholesterolemia, familial, 1, Familial hypobetalipoproteinemia 1, Familial hypercholesterolemia,
Hypercholesterolemia, autosomal dominant, type B, Hypercholesterolemia, autosomal dominant, type B, Familial hypobetalipoproteinemia 1,
not provided | Conflicting interpretations of pathogenicity
(Jan 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:75855491
- GRCh38:
- Chr10:74095733
| VCL | L541V | Cardiovascular phenotype, Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1W,
Hypertrophic cardiomyopathy 15, not specified, not provided,
Cardiomyopathy, Dilated cardiomyopathy 1W | Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179499190-179499193
- GRCh38:
- Chr2:178634463-178634466
| TTN | K5040fs, K11537fs, K5232fs, K12464fs, K14105fs, K5165fs | Primary familial dilated cardiomyopathy | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr18:28673594
- GRCh38:
- Chr18:31093631
| DSC2 | A28S | Primary familial dilated cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy,
not provided, Arrhythmogenic right ventricular dysplasia 11 | Conflicting interpretations of pathogenicity
(Jul 29, 2022) | criteria provided, conflicting interpretations |