| - GRCh37:
- Chr6:7555951
- GRCh38:
- Chr6:7555718
| DSP | C57* | Cardiomyopathy | Likely pathogenic
(Apr 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7555985-7555986
- GRCh38:
- Chr6:7555752-7555753
| DSP | I71fs | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic
(Feb 27, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7555994
- GRCh38:
- Chr6:7555761
| DSP | Q72* | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic
(May 16, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr6:7556006
- GRCh38:
- Chr6:7555773
| DSP | Q76* | Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy | Likely pathogenic
(Jun 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7556022-7556030
- GRCh38:
- Chr6:7555789-7555797
| DSP | | not provided | Pathogenic
(Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7556030
- GRCh38:
- Chr6:7555797
| DSP | R84* | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8,
not provided | Pathogenic
(May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7556048
- GRCh38:
- Chr6:7555815
| DSP | Q90* | Cardiovascular phenotype, not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8, not specified | Pathogenic
(Jun 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7556053
- GRCh38:
- Chr6:7555820
| DSP | E92fs | Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy, not provided
| Pathogenic/Likely pathogenic
(Sep 20, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7556054
- GRCh38:
- Chr6:7555821
| DSP | | not provided, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
| Pathogenic/Likely pathogenic
(Jul 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7558388
- GRCh38:
- Chr6:7558155
| DSP | R105* | not provided, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Dec 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7558395
- GRCh38:
- Chr6:7558162
| DSP | L107* | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Feb 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7558403-7558407
- GRCh38:
- Chr6:7558170-7558174
| DSP | F111fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Dec 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7558404-7558405
- GRCh38:
- Chr6:7558171-7558172
| DSP | C110* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(May 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7558418-7558419
- GRCh38:
- Chr6:7558185-7558186
| DSP | D116fs | not provided | Likely pathogenic
(Sep 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7558458-7558459
- GRCh38:
- Chr6:7558225-7558226
| DSP | R129fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7558499
- GRCh38:
- Chr6:7558266
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely pathogenic
(Mar 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559457
- GRCh38:
- Chr6:7559224
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely pathogenic
(Jun 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559458
- GRCh38:
- Chr6:7559225
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, not provided,
Cardiovascular phenotype | Pathogenic/Likely pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7559484
- GRCh38:
- Chr6:7559251
| DSP | R150* | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8,
not provided | Pathogenic
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7559500
- GRCh38:
- Chr6:7559267
| DSP | I156fs | Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8,
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(May 22, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7559514
- GRCh38:
- Chr6:7559281
| DSP | R160* | Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular cardiomyopathy,
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Primary dilated cardiomyopathy
| Pathogenic/Likely pathogenic
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7559526-7559527
- GRCh38:
- Chr6:7559293-7559294
| DSP | A164fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Jul 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559527-7559528
- GRCh38:
- Chr6:7559294-7559295
| DSP | | not provided | Pathogenic
(Dec 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559527-7559528
- GRCh38:
- Chr6:7559294-7559295
| DSP | A164fs | Primary dilated cardiomyopathy | Likely pathogenic
(Aug 23, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559558
- GRCh38:
- Chr6:7559325
| DSP | C174* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559559
- GRCh38:
- Chr6:7559326
| DSP | Q175* | Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, not provided,
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic/Likely pathogenic
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7559570-7559571
- GRCh38:
- Chr6:7559337-7559338
| DSP | G179fs | Primary dilated cardiomyopathy | Likely pathogenic
(May 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559593-7559594
- GRCh38:
- Chr6:7559360-7559361
| DSP | H186fs | Cardiovascular phenotype | Pathogenic
(Mar 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7559634
- GRCh38:
- Chr6:7559401
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely pathogenic
(Sep 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7562907
- GRCh38:
- Chr6:7562674
| DSP | G208fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Mar 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7562908
- GRCh38:
- Chr6:7562675
| DSP | W207* | Keratosis palmoplantaris striata 2 | Likely pathogenic
(Jul 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7562932-7562933
- GRCh38:
- Chr6:7562699-7562700
| DSP | Q216fs | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
| Pathogenic
(Jun 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7562986
- GRCh38:
- Chr6:7562753
| DSP | W233* | Cardiac arrhythmia, Cardiovascular phenotype, not provided,
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular cardiomyopathy,
Cardiomyopathy, Lethal acantholytic epidermolysis bullosa, Keratosis palmoplantaris striata 2,
Skin fragility-woolly hair-palmoplantar keratoderma syndrome, Arrhythmogenic cardiomyopathy with woolly hair and keratodermaArrhythmogenic right ventricular dysplasia 8,
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis, ...see more | Pathogenic/Likely pathogenic
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7562987
- GRCh38:
- Chr6:7562754
| DSP | Q234* | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Sep 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7562995-7562996
- GRCh38:
- Chr6:7562762-7562763
| DSP | I238fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Primary dilated cardiomyopathy
| Pathogenic/Likely pathogenic
(Feb 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7563971
- GRCh38:
- Chr6:7563738
| DSP | E244fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7563990
- GRCh38:
- Chr6:7563757
| DSP | Q250* | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr6:7565590
- GRCh38:
- Chr6:7565357
| DSP | | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Likely pathogenic
(Jan 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565604-7565605
- GRCh38:
- Chr6:7565371-7565372
| DSP | R265fs | Arrhythmogenic right ventricular cardiomyopathy | Pathogenic
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565612-7565613
- GRCh38:
- Chr6:7565379-7565380
| DSP | N274fs | Cardiomyopathy | Likely pathogenic
(Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565622
- GRCh38:
- Chr6:7565389
| DSP | R270* | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565625
- GRCh38:
- Chr6:7565392
| DSP | Q271* | not provided | Pathogenic
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565631-7565632
- GRCh38:
- Chr6:7565398-7565399
| DSP | N274fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565638-7565641
- GRCh38:
- Chr6:7565405-7565408
| DSP | I276fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Sep 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565675
- GRCh38:
- Chr6:7565442
| DSP | N287K | Skin fragility-woolly hair-palmoplantar keratoderma syndrome | Pathogenic
(Feb 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr6:7565681
- GRCh38:
- Chr6:7565448
| DSP | C289* | Primary dilated cardiomyopathy | Likely pathogenic
(Dec 1, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565702
- GRCh38:
- Chr6:7565469
| DSP | Y296* | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565702
- GRCh38:
- Chr6:7565469
| DSP | Y296* | not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8,
Cardiomyopathy | Pathogenic/Likely pathogenic
(Mar 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7565708
- GRCh38:
- Chr6:7565475
| DSP | W298* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565711
- GRCh38:
- Chr6:7565478
| DSP | S299R | Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Nov 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr6:7565733
- GRCh38:
- Chr6:7565500
| DSP | Q307* | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic
(Jul 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565735-7565736
- GRCh38:
- Chr6:7565502-7565503
| DSP | Q309fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565739
- GRCh38:
- Chr6:7565506
| DSP | Q309* | Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Mar 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565740-7565741
- GRCh38:
- Chr6:7565507-7565508
| DSP | E310fs | Cardiovascular phenotype, not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7565747-7565748
- GRCh38:
- Chr6:7565514-7565515
| DSP | S313fs | not provided | Likely pathogenic
(Aug 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565754
- GRCh38:
- Chr6:7565521
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Jun 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565754
- GRCh38:
- Chr6:7565521
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Jan 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7565754
- GRCh38:
- Chr6:7565521
| DSP | | not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype,
Primary dilated cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8 | Pathogenic/Likely pathogenic
(Jan 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7565755
- GRCh38:
- Chr6:7565522
| DSP | | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7566608
- GRCh38:
- Chr6:7566375
| DSP | | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Likely pathogenic
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7566611-7566612
- GRCh38:
- Chr6:7566378-7566379
| DSP | R315fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Apr 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7566612
- GRCh38:
- Chr6:7566379
| DSP | R315fs | not provided | Likely pathogenic
(Apr 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7566661
- GRCh38:
- Chr6:7566428
| DSP | Q331* | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
| Pathogenic
(Mar 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7566672
- GRCh38:
- Chr6:7566439
| DSP | Q335fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7566677-7566678
- GRCh38:
- Chr6:7566444-7566445
| DSP | L338fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7567596-7567601
- GRCh38:
- Chr6:7567363-7567368
| DSP | D352fs | Conduction disorder of the heart, not provided | Pathogenic/Likely pathogenic
(Mar 1, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7567600-7567601
- GRCh38:
- Chr6:7567367-7567368
| DSP | L354fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7567605
- GRCh38:
- Chr6:7567372
| DSP | Q355* | Cardiomyopathy | Likely pathogenic
(Aug 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7567622
- GRCh38:
- Chr6:7567389
| DSP | W360* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Mar 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7567629
- GRCh38:
- Chr6:7567396
| DSP | Q363* | Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Pathogenic
(Nov 4, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7567640-7567641
- GRCh38:
- Chr6:7567407-7567408
| DSP | C367fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Apr 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7567659
- GRCh38:
- Chr6:7567426
| DSP | E374fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7567684
- GRCh38:
- Chr6:7567451
| DSP | | Primary dilated cardiomyopathy | Likely pathogenic
(Sep 15, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568012
- GRCh38:
- Chr6:7567779
| DSP | | not provided, Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic
(Jan 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568012
- GRCh38:
- Chr6:7567779
| DSP | | Arrhythmogenic right ventricular dysplasia 9, not provided | Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568013
- GRCh38:
- Chr6:7567780
| DSP | | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Likely pathogenic
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568014
- GRCh38:
- Chr6:7567781
| DSP | F382fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular cardiomyopathy
| Pathogenic
(Jan 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568035
- GRCh38:
- Chr6:7567802
| DSP | T388fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Cardiovascular phenotype
| Pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568052
- GRCh38:
- Chr6:7567819
| DSP | L395fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568058
- GRCh38:
- Chr6:7567825
| DSP | Q396fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Jun 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568082
- GRCh38:
- Chr6:7567849
| DSP | Y403* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568088
- GRCh38:
- Chr6:7567855
| DSP | C405* | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568101-7568102
- GRCh38:
- Chr6:7567868-7567869
| DSP | P410fs | Cardiovascular phenotype | Pathogenic
(Jan 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568107
- GRCh38:
- Chr6:7567874
| DSP | Q412* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma
| Pathogenic
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568122
- GRCh38:
- Chr6:7567889
| DSP | Q417* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568141
- GRCh38:
- Chr6:7567908
| DSP | | not provided | Likely pathogenic
(Apr 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568676
- GRCh38:
- Chr6:7568443
| DSP | R425* | Cardiovascular phenotype, not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma,
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy,
DSP-related arrhythmogenic cardiomyopathy | Pathogenic/Likely pathogenic
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568681-7568682
- GRCh38:
- Chr6:7568448-7568449
| DSP | I428fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Cardiovascular phenotype
| Pathogenic
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568691
- GRCh38:
- Chr6:7568458
| DSP | E430* | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
| Pathogenic/Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568696
- GRCh38:
- Chr6:7568463
| DSP | | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568728
- GRCh38:
- Chr6:7568495
| DSP | S442F | not provided | Likely pathogenic
(Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568742
- GRCh38:
- Chr6:7568509
| DSP | Q447* | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568754
- GRCh38:
- Chr6:7568521
| DSP | R451G | not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7568755
- GRCh38:
- Chr6:7568522
| DSP | R451P | Arrhythmogenic cardiomyopathy | Likely pathogenic
(Jan 10, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr6:7568784-7568786
- GRCh38:
- Chr6:7568551-7568553
| DSP | I462del | Cardiomyopathy | Likely pathogenic
(Aug 18, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568788
- GRCh38:
- Chr6:7568555
| DSP | L463fs | Cardiomyopathy | Pathogenic
(Nov 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7568814-7568815
- GRCh38:
- Chr6:7568581-7568582
| DSP | Q471fs | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Pathogenic
(Jul 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7569417
- GRCh38:
- Chr6:7569184
| DSP | | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 | Likely pathogenic
(Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7569418
- GRCh38:
- Chr6:7569185
| DSP | | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
| Likely pathogenic
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:7569438
- GRCh38:
- Chr6:7569205
| DSP | D480fs | Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | Pathogenic
(Feb 25, 2022) | criteria provided, single submitter |