| - GRCh37:
- Chr14:76446761
- GRCh38:
- Chr14:75980418
| TGFB3 | | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:76447007
- GRCh38:
- Chr14:75980664
| TGFB3 | R77Q | Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1,
not provided, Rienhoff syndrome | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76446977
- GRCh38:
- Chr14:75980634
| TGFB3 | R87M | Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, not provided
| Uncertain significance
(Mar 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76438071-76438075
- GRCh38:
- Chr14:75971728-75971732
| TGFB3 | | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome
| Likely benign
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76438003
- GRCh38:
- Chr14:75971660
| TGFB3 | S138fs | Arrhythmogenic right ventricular dysplasia 1 | Pathogenic
(Nov 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:32974377
- GRCh38:
- Chr12:32821443
| PKP2 | Y642*, Y686* | Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 9 | Pathogenic/Likely pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32945667
- GRCh38:
- Chr12:32792733
| PKP2 | | Arrhythmogenic right ventricular dysplasia 1 | Likely pathogenic
(Nov 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:28651780-28651783
- GRCh38:
- Chr18:31071814-31071817
| DSC2 | Q638fs | Arrhythmogenic right ventricular dysplasia 1 | Likely pathogenic
(Jan 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr14:76429735
- GRCh38:
- Chr14:75963392
| TGFB3 | P284S | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome
| Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76429829
- GRCh38:
- Chr14:75963486
| TGFB3 | | Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome, Rienhoff syndrome,
Arrhythmogenic right ventricular dysplasia 1 | Conflicting interpretations of pathogenicity
(Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:76437524
- GRCh38:
- Chr14:75971181
| TGFB3 | | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Familial thoracic aortic aneurysm and aortic dissection,
Rienhoff syndrome | Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76446912
- GRCh38:
- Chr14:75980569
| TGFB3 | D109N | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:179419249
- GRCh38:
- Chr2:178554522
| TTN, TTN-AS1 | R20544*, R27968*, R29609*, R20669*, R20736*, R27041* | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided,
Arrhythmogenic right ventricular dysplasia 1, Cardiovascular phenotype | Pathogenic/Likely pathogenic
(Feb 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76425550
- GRCh38:
- Chr14:75959207
| TGFB3 | K407E | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(May 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76429800
- GRCh38:
- Chr14:75963457
| TGFB3 | G262V | Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr8:145004655
- GRCh38:
- Chr8:143930487
| PLEC | A753G, A763G, A771G, A785G, A789G, A812G, A922G | Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr8:144992372
- GRCh38:
- Chr8:143918204
| PLEC | L3841V, L3851V, L3859V, L3873V, L3877V, L3900V, L4010V | Arrhythmogenic right ventricular dysplasia 1 | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr14:76429726
- GRCh38:
- Chr14:75963383
| TGFB3 | R287W | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome,
Familial thoracic aortic aneurysm and aortic dissection, not provided, not specified
| Uncertain significance
(Feb 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447136
- GRCh38:
- Chr14:75980793
| TGFB3 | H34R | not provided, Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome,
Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome | Likely benign
(Mar 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447002
- GRCh38:
- Chr14:75980659
| TGFB3 | L79V | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome,
Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447236
- GRCh38:
- Chr14:75980893
| TGFB3 | M1V | Rienhoff syndrome, not provided, Rienhoff syndrome,
Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76437950
- GRCh38:
- Chr14:75971607
| TGFB3 | R155Q | Rienhoff syndrome, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1,
not provided | Uncertain significance
(Jun 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76429677
- GRCh38:
- Chr14:75963334
| TGFB3 | D303A | Rienhoff syndrome, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
| Uncertain significance
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76429828
- GRCh38:
- Chr14:75963485
| TGFB3 | V253M | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome,
Arrhythmogenic right ventricular dysplasia 1, not provided | Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76437951
- GRCh38:
- Chr14:75971608
| TGFB3 | R155W | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1 | Conflicting interpretations of pathogenicity
(Jul 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:7580197
- GRCh38:
- Chr6:7579964
| DSP | D1258E | not provided, Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8,
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 1, Cardiovascular phenotype
| Conflicting interpretations of pathogenicity
(Jul 26, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:76425664-76425667
- GRCh38:
- Chr14:75959321-75959324
| TGFB3 | L368fs | Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, Rienhoff syndrome,
Familial thoracic aortic aneurysm and aortic dissection | Pathogenic/Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76427420
- GRCh38:
- Chr14:75961077
| TGFB3 | | Rienhoff syndrome, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
| Likely pathogenic
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76425600
- GRCh38:
- Chr14:75959257
| TGFB3 | Y390F | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1,
not provided, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome
| Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76427381
- GRCh38:
- Chr14:75961038
| TGFB3 | I322T | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1,
Rienhoff syndrome, not provided | Uncertain significance
(Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76429713
- GRCh38:
- Chr14:75963370
| TGFB3 | P291L | Rienhoff syndrome, not provided, Arrhythmogenic right ventricular dysplasia 1,
Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76437926
- GRCh38:
- Chr14:75971583
| TGFB3 | R163Q | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1,
not provided | Uncertain significance
(Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76437535
- GRCh38:
- Chr14:75971192
| TGFB3 | R194W | Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, Rienhoff syndrome,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(May 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447140
- GRCh38:
- Chr14:75980797
| TGFB3 | G33S | Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, Rienhoff syndrome,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76427312
- GRCh38:
- Chr14:75960969
| TGFB3 | S345* | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, Arrhythmogenic right ventricular dysplasia 1,
Rienhoff syndrome, Developmental disorder, not provided
| Pathogenic/Likely pathogenic
(May 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:32975480
- GRCh38:
- Chr12:32822546
| PKP2 | Y631C, Y587C | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 1,
Cardiomyopathy | Uncertain significance
(May 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447160
- GRCh38:
- Chr14:75980817
| TGFB3 | T26S | Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, Rienhoff syndrome,
not provided | Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:29100818
- GRCh38:
- Chr18:31520855
| DSG2 | T90I | Cardiovascular phenotype, not specified, not provided,
Arrhythmogenic right ventricular dysplasia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
| Conflicting interpretations of pathogenicity
(Dec 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:76447782-76447783
- GRCh38:
- Chr14:75981439-75981440
| TGFB3 | | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular cardiomyopathy
| Uncertain significance
(Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447772
- GRCh38:
- Chr14:75981429
| TGFB3 | | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular cardiomyopathy
| Uncertain significance
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447668-76447670
- GRCh38:
- Chr14:75981325-75981327
| TGFB3 | | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular cardiomyopathy
| Uncertain significance
(Aug 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76446943
- GRCh38:
- Chr14:75980600
| TGFB3 | | Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, Rienhoff syndrome,
not provided, Familial thoracic aortic aneurysm and aortic dissection | Likely benign
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447155
- GRCh38:
- Chr14:75980812
| TGFB3 | T28P | Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided,
Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome | Uncertain significance
(May 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76447058
- GRCh38:
- Chr14:75980715
| TGFB3 | T60M | not provided, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome,
Familial thoracic aortic aneurysm and aortic dissection | Likely benign
(Jul 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237755074
- GRCh38:
- Chr1:237591774
| RYR2 | T1399K | Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(Mar 11, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179486460-179486462
- GRCh38:
- Chr2:178621733-178621735
| LOC126806427, TTN | | Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided, not specified, Arrhythmogenic right ventricular dysplasia 1
| Conflicting interpretations of pathogenicity
(Apr 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:237777340
- GRCh38:
- Chr1:237614040
| RYR2 | S1638T | Cardiovascular phenotype, not provided, Cardiomyopathy,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(May 3, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:237604757
- GRCh38:
- Chr1:237441457
| RYR2 | V382M | Cardiovascular phenotype, not provided, Cardiomyopathy,
Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 1 | Conflicting interpretations of pathogenicity
(Aug 25, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:144995938
- GRCh38:
- Chr8:143921770
| PLEC | R2652Q, R2662Q, R2670Q, R2684Q, R2688Q, R2711Q, R2821Q | Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, not specified,
not provided, Arrhythmogenic right ventricular dysplasia 1 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:144998626
- GRCh38:
- Chr8:143924458
| PLEC | A1792V, A1802V, A1810V, A1824V, A1828V, A1851V, A1961V | Inborn genetic diseases, not specified, Epidermolysis bullosa simplex 5B, with muscular dystrophy,
Epidermolysis bullosa simplex, Ogna type, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, not provided, Arrhythmogenic right ventricular dysplasia 1
| Conflicting interpretations of pathogenicity
(Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:144998707
- GRCh38:
- Chr8:143924539
| PLEC | R1765H, R1775H, R1783H, R1797H, R1801H, R1824H, R1934H | Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q,
Epidermolysis bullosa simplex 5C, with pyloric atresia, Epidermolysis bullosa simplex, Ogna type, not provided,
Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76437927
- GRCh38:
- Chr14:75971584
| TGFB3 | R163W | Rienhoff syndrome, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1,
not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection
| Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:76437556
- GRCh38:
- Chr14:75971213
| TGFB3 | G187S | Rienhoff syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection,
Arrhythmogenic right ventricular dysplasia 1 | Uncertain significance
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:7581486
- GRCh38:
- Chr6:7581253
| DSP | A1688V | Arrhythmogenic cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 1 | Conflicting interpretations of pathogenicity
(Jul 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:144998621
- GRCh38:
- Chr8:143924453
| PLEC | R1794W, R1804W, R1812W, R1826W, R1830W, R1853W, R1963W | Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex 5C, with pyloric atresia,
Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex, Ogna type, not specified,
not provided, Arrhythmogenic right ventricular dysplasia 1 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:28662951
- GRCh38:
- Chr18:31082985
| DSC2 | T340A | Cardiovascular phenotype, Cardiomyopathy, not provided,
Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 1 | Conflicting interpretations of pathogenicity
(Sep 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179542469-179542489
- GRCh38:
- Chr2:178677742-178677762
| TTN | | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not specified,
Cardiomyopathy, not provided, Arrhythmogenic right ventricular dysplasia 1,
Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29101156
- GRCh38:
- Chr18:31521193
| DSG2 | V158G | Cardiovascular phenotype, Primary dilated cardiomyopathy, Cardiomyopathy,
not specified, Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB,
not provided, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy,
Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 1 ...see more | Benign/Likely benign
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47365122
- GRCh38:
- Chr11:47343571
| MYBPC3 | R382W | Cardiovascular phenotype, Left ventricular noncompaction 10, not specified,
not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 1,
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:47364602
- GRCh38:
- Chr11:47343051
| MYBPC3 | E441K | Cardiovascular phenotype, Left ventricular noncompaction 10, not specified,
not provided, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 1,
Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy | Conflicting interpretations of pathogenicity
(May 19, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr18:29111109
- GRCh38:
- Chr18:31531146
| DSG2 | V392I | Cardiovascular phenotype, not provided, not specified,
Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10,
Arrhythmogenic right ventricular dysplasia 1 | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:76425035
- GRCh38:
- Chr14:75958692
| TGFB3 | | Rienhoff syndrome | Uncertain significance
(Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:76447266
- GRCh38:
- Chr14:75980923
| TGFB3 | | Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome,
not provided | Uncertain significance
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |