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Links from MedGen

Items: 63

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:76446761
GRCh38:
Chr14:75980418
TGFB3Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1Uncertain significance
(Dec 15, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr14:76447007
GRCh38:
Chr14:75980664
TGFB3R77QFamilial 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
3.
GRCh37:
Chr14:76446977
GRCh38:
Chr14:75980634
TGFB3R87MArrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, not provided
Uncertain significance
(Mar 31, 2021)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr14:76438071-76438075
GRCh38:
Chr14:75971728-75971732
TGFB3Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome
Likely benign
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr14:76438003
GRCh38:
Chr14:75971660
TGFB3S138fsArrhythmogenic right ventricular dysplasia 1Pathogenic
(Nov 20, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr12:32974377
GRCh38:
Chr12:32821443
PKP2Y642*, Y686*Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular dysplasia 9Pathogenic/Likely pathogenic
(Mar 22, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:32945667
GRCh38:
Chr12:32792733
PKP2Arrhythmogenic right ventricular dysplasia 1Likely pathogenic
(Nov 15, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr18:28651780-28651783
GRCh38:
Chr18:31071814-31071817
DSC2Q638fsArrhythmogenic right ventricular dysplasia 1Likely pathogenic
(Jan 25, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr14:76429735
GRCh38:
Chr14:75963392
TGFB3P284SRienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr14:76429829
GRCh38:
Chr14:75963486
TGFB3Familial 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
11.
GRCh37:
Chr14:76437524
GRCh38:
Chr14:75971181
TGFB3Rienhoff 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
12.
GRCh37:
Chr14:76446912
GRCh38:
Chr14:75980569
TGFB3D109NRienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Familial thoracic aortic aneurysm and aortic dissection
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:179419249
GRCh38:
Chr2:178554522
TTN, TTN-AS1R20544*, 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
14.
GRCh37:
Chr14:76425550
GRCh38:
Chr14:75959207
TGFB3K407ERienhoff 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
15.
GRCh37:
Chr14:76429800
GRCh38:
Chr14:75963457
TGFB3G262VArrhythmogenic right ventricular dysplasia 1Uncertain significance
(Jun 26, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr8:145004655
GRCh38:
Chr8:143930487
PLECA753G, A763G, A771G, A785G, A789G, A812G, A922GArrhythmogenic right ventricular dysplasia 1Uncertain significancecriteria provided, single submitter
17.
GRCh37:
Chr8:144992372
GRCh38:
Chr8:143918204
PLECL3841V, L3851V, L3859V, L3873V, L3877V, L3900V, L4010VArrhythmogenic right ventricular dysplasia 1Likely benigncriteria provided, single submitter
18.
GRCh37:
Chr14:76429726
GRCh38:
Chr14:75963383
TGFB3R287WRienhoff 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
19.
GRCh37:
Chr14:76447136
GRCh38:
Chr14:75980793
TGFB3H34Rnot 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
20.
GRCh37:
Chr14:76447002
GRCh38:
Chr14:75980659
TGFB3L79VRienhoff 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
21.
GRCh37:
Chr14:76447236
GRCh38:
Chr14:75980893
TGFB3M1VRienhoff syndrome, not provided, Rienhoff syndrome,
Arrhythmogenic right ventricular dysplasia 1
Uncertain significance
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr14:76437950
GRCh38:
Chr14:75971607
TGFB3R155QRienhoff syndrome, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1,
not provided
Uncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr14:76429677
GRCh38:
Chr14:75963334
TGFB3D303ARienhoff syndrome, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr14:76429828
GRCh38:
Chr14:75963485
TGFB3V253MRienhoff 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
25.
GRCh37:
Chr14:76437951
GRCh38:
Chr14:75971608
TGFB3R155WRienhoff 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
26.
GRCh37:
Chr6:7580197
GRCh38:
Chr6:7579964
DSPD1258Enot 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
27.
GRCh37:
Chr14:76425664-76425667
GRCh38:
Chr14:75959321-75959324
TGFB3L368fsArrhythmogenic 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
28.
GRCh37:
Chr14:76427420
GRCh38:
Chr14:75961077
TGFB3Rienhoff syndrome, Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
Likely pathogenic
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr14:76425600
GRCh38:
Chr14:75959257
TGFB3Y390FRienhoff 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
30.
GRCh37:
Chr14:76427381
GRCh38:
Chr14:75961038
TGFB3I322TRienhoff 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
31.
GRCh37:
Chr14:76429713
GRCh38:
Chr14:75963370
TGFB3P291LRienhoff 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
32.
GRCh37:
Chr14:76437926
GRCh38:
Chr14:75971583
TGFB3R163QRienhoff 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
33.
GRCh37:
Chr14:76437535
GRCh38:
Chr14:75971192
TGFB3R194WArrhythmogenic 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
34.
GRCh37:
Chr14:76447140
GRCh38:
Chr14:75980797
TGFB3G33SArrhythmogenic 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
35.
GRCh37:
Chr14:76427312
GRCh38:
Chr14:75960969
TGFB3S345*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
36.
GRCh37:
Chr12:32975480
GRCh38:
Chr12:32822546
PKP2Y631C, Y587CArrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 1,
Cardiomyopathy
Uncertain significance
(May 2, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr14:76447160
GRCh38:
Chr14:75980817
TGFB3T26SArrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, Rienhoff syndrome,
not provided
Uncertain significance
(Sep 6, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr18:29100818
GRCh38:
Chr18:31520855
DSG2T90ICardiovascular 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
39.
GRCh37:
Chr14:76447782-76447783
GRCh38:
Chr14:75981439-75981440
TGFB3Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular cardiomyopathy
Uncertain significance
(Oct 4, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr14:76447772
GRCh38:
Chr14:75981429
TGFB3Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular cardiomyopathy
Uncertain significance
(Jul 30, 2021)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr14:76447668-76447670
GRCh38:
Chr14:75981325-75981327
TGFB3Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Arrhythmogenic right ventricular cardiomyopathy
Uncertain significance
(Aug 16, 2021)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr14:76446943
GRCh38:
Chr14:75980600
TGFB3Arrhythmogenic 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
43.
GRCh37:
Chr14:76447155
GRCh38:
Chr14:75980812
TGFB3T28PRienhoff 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
44.
GRCh37:
Chr14:76447058
GRCh38:
Chr14:75980715
TGFB3T60Mnot 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
45.
GRCh37:
Chr1:237755074
GRCh38:
Chr1:237591774
RYR2T1399KArrhythmogenic right ventricular dysplasia 1Uncertain significance
(Mar 11, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr2:179486460-179486462
GRCh38:
Chr2:178621733-178621735
LOC126806427, TTNCardiovascular 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
47.
GRCh37:
Chr1:237777340
GRCh38:
Chr1:237614040
RYR2S1638TCardiovascular 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
48.
GRCh37:
Chr1:237604757
GRCh38:
Chr1:237441457
RYR2V382MCardiovascular 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
49.
GRCh37:
Chr8:144995938
GRCh38:
Chr8:143921770
PLECR2652Q, R2662Q, R2670Q, R2684Q, R2688Q, R2711Q, R2821QEpidermolysis 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
50.
GRCh37:
Chr8:144998626
GRCh38:
Chr8:143924458
PLECA1792V, A1802V, A1810V, A1824V, A1828V, A1851V, A1961VInborn 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
51.
GRCh37:
Chr8:144998707
GRCh38:
Chr8:143924539
PLECR1765H, R1775H, R1783H, R1797H, R1801H, R1824H, R1934HEpidermolysis 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
52.
GRCh37:
Chr14:76437927
GRCh38:
Chr14:75971584
TGFB3R163WRienhoff 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
53.
GRCh37:
Chr14:76437556
GRCh38:
Chr14:75971213
TGFB3G187SRienhoff 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
54.
GRCh37:
Chr6:7581486
GRCh38:
Chr6:7581253
DSPA1688VArrhythmogenic 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
55.
GRCh37:
Chr8:144998621
GRCh38:
Chr8:143924453
PLECR1794W, R1804W, R1812W, R1826W, R1830W, R1853W, R1963WEpidermolysis 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
56.
GRCh37:
Chr18:28662951
GRCh38:
Chr18:31082985
DSC2T340ACardiovascular 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
57.
GRCh37:
Chr2:179542469-179542489
GRCh38:
Chr2:178677742-178677762
TTNDilated 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
58.
GRCh37:
Chr18:29101156
GRCh38:
Chr18:31521193
DSG2V158GCardiovascular 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
59.
GRCh37:
Chr11:47365122
GRCh38:
Chr11:47343571
MYBPC3R382WCardiovascular 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
60.
GRCh37:
Chr11:47364602
GRCh38:
Chr11:47343051
MYBPC3E441KCardiovascular 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
61.
GRCh37:
Chr18:29111109
GRCh38:
Chr18:31531146
DSG2V392ICardiovascular 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
62.
GRCh37:
Chr14:76425035
GRCh38:
Chr14:75958692
TGFB3Rienhoff syndromeUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr14:76447266
GRCh38:
Chr14:75980923
TGFB3Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome,
not provided
Uncertain significance
(Dec 5, 2022)
criteria provided, multiple submitters, no conflicts
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