| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSC2 | 2 | E46K | c.136G>A | p.Glu46Lys |
0/0
| Found once in 250 patients | | |
Mutation details
|
| DSC2 | 3 | D70E | c.210C>A | p.Asp70Glu |
0/180
| | | |
Mutation details
|
| DSC2 | 5 | Intronic | c.475-76G>C | - |
0/0
| | | |
Mutation details
|
| DSC2 | 5 | F209F | c.627T>C | p.= |
0/0
| Found once in 170 patients | | |
Mutation details
|
| DSC2 | 6 | Intronic | c.631-29C>G | - |
0/0
| | | |
Mutation details
|
| DSC2 | 6 | Intronic | c.631-13dupA | - |
0/0
| Found once in 250 patients | | |
Mutation details
|
| DSC2 | 8 | Splice | c.943-1G>A | r.spl? |
0/0
| | | |
Mutation details
|
| DSC2 | 9 | Intronic | c.1078-40A>T | - |
0/0
| | | |
Mutation details
|
| DSC2 | 9 | Intronic | c.1078-31C>T | - |
0/0
| | | |
Mutation details
|
| DSC2 | 9 | D380E | c.1140T>G | p.Asp380Glu |
0/0
| Found once in 320 patients | | |
Mutation details
|
| DSC2 | 9 | Intronic | c.1263+38A>G | - |
0/0
| | | |
Mutation details
|
| DSC2 | 10 | R450R | c.1350A>G | p.= |
0/0
| Found once in 300 patients | | |
Mutation details
|
| DSC2 | 12 | S574N | c.1721G>A | p.Ser574Asn |
0/186
| | | |
Mutation details
|
| DSC2 | 12 | I577V | c.1729A>G | p.Ile577Val |
1/186
| | | |
Mutation details
|
| DSC2 | 12 | I603L | c.1807A>C | p.Ile603Leu |
0/300
| | | |
Mutation details
|
| DSC2 | 12 | Intronic | c.1888+51G>A | - |
0/0
| Found once in 275 patients | | |
Mutation details
|
| DSC2 | 14 | A718T | c.2152G>A | p.Ala718Thr |
0/0
| Found once in 250 patients | | |
Mutation details
|
| DSC2 | 15 | Intronic | c.2251-27C>A | - |
0/0
| | | |
Mutation details
|
| DSC2 | 15 | Intronic | c.2251-20G>A | - |
0/0
| | | |
Mutation details
|
| DSC2 | 15 | G762G | c.2286C>T | p.= |
0/0
| Found once in 230 patients | | |
Mutation details
|
| DSC2 | 15 | G790del | c.2368_2370delGGA | p.Gly790del |
1/180
| | | Found once in a control sample, never in a patient |
Mutation details
|
| DSC2 | 15 | P832T | c.2494C>A | p.Pro832Thr |
0/0
| | | |
Mutation details
|
| DSC2 | 16 | G863R | c.2587G>A | p.Gly863Arg |
0/0
| Found once in 230 patients | | |
Mutation details
|
| DSC2 | 16 | A897fsX900 | c.2686_2687dupGA | p.Ala897LysfsX4 |
3/178
| | | |
Mutation details
|
| DSC2 | 3'UTR | UTR | c.*46A>T | - |
0/0
| | | |
Mutation details
|
| DSG2 | 1 | Intronic | c.45+33G>T | - |
0/0
| | | |
Mutation details
|
| DSG2 | 2 | Intronic | c.46-36T>C | - |
0/0
| | | |
Mutation details
|
| DSG2 | 2 | N19N | c.57C>T | p.= |
0/0
| Found once in 310 patients | | |
Mutation details
|
| DSG2 | 4 | Intronic | c.217-89G>C | - |
0/0
| | | |
Mutation details
|
| DSG2 | 4 | H74R | c.221A>G | p.His74Arg |
0/0
| Found once in 300 patients | | |
Mutation details
|
| DSG2 | 4 | Splice | c.378+2T>G | r.spl? |
0/0
| | | |
Mutation details
|
| DSG2 | 5 | Intronic | c.379-52G>A | - |
0/0
| | | |
Mutation details
|
| DSG2 | 5 | R146L | c.437G>T | p.Arg146Leu |
0/0
| Found once in 300 patients | | |
Mutation details
|
| DSG2 | 6 | Intronic | c.524-48A>G | - |
0/0
| | | |
Mutation details
|
| DSG2 | 6 | Intronic | c.524-9T>A | - |
0/0
| | | |
Mutation details
|
| DSG2 | 6 | S194P | c.580T>C | p.Ser194Pro |
0/0
| Found once in 230 patients | | |
Mutation details
|
| DSG2 | 8 | R292C | c.874C>T | p.Arg292Cys |
0/0
| Found once in 300 patients | | |
Mutation details
|
| DSG2 | 8 | T335A | c.1003A>G | p.Thr335Ala |
0/200
| | | Reported as UV |
Mutation details
|
| DSG2 | 9 | S351G | c.1051A>G | p.Ser351Gly |
0/0
| Found once in 310 patients | | |
Mutation details
|
| DSG2 | 9 | A358T | c.1072G>A | p.Ala358Thr |
0/0
| Found once in 300 patients | | |
Mutation details
|
| DSG2 | 10 | D435N | c.1303G>A | p.Asp435Asn |
0/180
| | | |
Mutation details
|
| DSG2 | 11 | I492V | c.1474A>G | p.Ile492Val |
0/200
| | | |
Mutation details
|
| DSG2 | 11 | D494N | c.1480G>A | p.Asp494Asn |
0/0
| Found once in 230 patients | | |
Mutation details
|
| DSG2 | 11 | E501D | c.1503G>T | p.Glu501Asp |
0/280
| | | |
Mutation details
|
| DSG2 | 13 | Intronic | c.1880-40A>G | - |
0/0
| | | |
Mutation details
|
| DSG2 | 14 | I704V | c.2110A>G | p.Ile704Val |
0/300
| | | |
Mutation details
|
| DSG2 | 15 | M875V | c.2623A>G | p.Met875Val |
0/0
| Found once in 275 patients | | |
Mutation details
|
| DSG2 | 15 | N898T | c.2693A>C | p.Asn898Thr |
0/300
| | | |
Mutation details
|
| DSG2 | 15 | T1070M | c.3209C>T | p.Thr1070Met |
0/150
| | | |
Mutation details
|
| DSP | 1 | G35G | c.105G>A | p.= |
1/96
| | | |
Mutation details
|
| DSP | 1 | G46D | c.137G>A | p.Gly46Asp |
0/96
| | | |
Mutation details
|
| DSP | 2 | Intronic | c.171-65T>C | - |
0/0
| | | |
Mutation details
|
| DSP | 2 | C81Y | c.242G>A | p.Cys81Tyr |
0/300
| | | |
Mutation details
|
| DSP | 3 | Intronic | c.422+32C>G | - |
0/0
| Found once in 500 patients | | |
Mutation details
|
| DSP | 4 | Intronic | c.423-23T>A | - |
0/0
| Found once in 500 patients | | |
Mutation details
|
| DSP | 4 | Intronic | c.423-16_423-15insC | - |
0/0
| Found once in 500 patients | | |
Mutation details
|
| DSP | 5 | Intronic | c.726+7G>C | - |
0/0
| | | |
Mutation details
|
| DSP | 6 | Intronic | c.727-35G>A | - |
0/0
| | | |
Mutation details
|
| DSP | 6 | Intronic | c.777+22G>A | - |
0/0
| | | |
Mutation details
|
| DSP | 6 | Intronic | c.777+29G>A | - |
0/0
| | | |
Mutation details
|
| DSP | 7 | E274fsX288 | c.818_819insA | p.Asn274GlufsX15 |
0/0
| | | |
Mutation details
|
| DSP | 8 | Intronic | c.1044+49A>G | - |
0/0
| | | |
Mutation details
|
| DSP | 9 | A354fsX368 | c.1060_1061delCT | p.Leu354AlafsX15 |
0/0
| | | |
Mutation details
|
| DSP | 9 | T356T | c.1068G>A | p.= |
0/0
| | | |
Mutation details
|
| DSP | 10 | K393K | c.1179G>A | p.= |
0/0
| | | |
Mutation details
|
| DSP | 10 | K402K | c.1206G>A | p.= |
0/0
| | | |
Mutation details
|
| DSP | 10 | Intronic | c.1266+44G>A | - |
0/0
| Found once in 450 patients | | |
Mutation details
|
| DSP | 12 | Intronic | c.1574+14G>T | - |
0/0
| | | |
Mutation details
|
| DSP | 12 | Intronic | c.1574+50G>A | - |
0/0
| | | |
Mutation details
|
| DSP | 13 | Intronic | c.1701+44G>A | - |
0/0
| Found once in 500 patients | | |
Mutation details
|
| DSP | 14 | Q620Q | c.1860G>A | p.= |
0/0
| | | |
Mutation details
|
| DSP | 14 | T621P | c.1861A>C | p.Thr621Pro |
0/0
| Found once in 440 patients | | |
Mutation details
|
| DSP | 15 | Intronic | c.1904-17C>G | - |
0/0
| | | |
Mutation details
|
| DSP | 16 | Intronic | c.2297+47C>T | - |
0/0
| | | |
Mutation details
|
| DSP | 16 | Intronic | c.2297+74A>C | - |
0/0
| | | |
Mutation details
|
| DSP | 17 | R808C | c.2422C>T | p.Arg808Cys |
0/0
| Found once in 450 patients | | |
Mutation details
|
| DSP | 17 | R808H | c.2423G>A | p.Arg808His |
0/300
| | | |
Mutation details
|
| DSP | 18 | L824L | c.2470T>C | p.= |
0/0
| | | |
Mutation details
|
| DSP | 18 | N871fsX887 | c.2611_2614delGATA | p.Asp871AsnfsX17 |
0/0
| | | |
Mutation details
|
| DSP | 19 | Y891Y | c.2673T>C | p.= |
0/0
| Found once in 400 patients | | |
Mutation details
|
| DSP | 19 | R908H | c.2723G>A | p.Arg908His |
0/124
| | | |
Mutation details
|
| DSP | 20 | G939S | c.2815G>A | p.Gly939Ser |
0/0
| | | |
Mutation details
|
| DSP | 23 | Y1101Y | c.3303C>T | p.= |
0/0
| | | |
Mutation details
|
| DSP | 23 | Y1188H | c.3262T>C | p.Tyr1188His |
0/0
| Found once in 370 patients | | |
Mutation details
|
| DSP | 23 | Y1217M | c.3650C>T | p.Tyr1217Met |
0/0
| CPVT | | Patient also carries variant in JUP: S125L |
Mutation details
|
| DSP | 23 | Q1321Q | c.3963G>A | p.= |
0/0
| | | |
Mutation details
|
| DSP | 23 | Y1355Y | c.4065T>C | p.= |
0/0
| | | |
Mutation details
|
| DSP | 23 | E1461E | c.4383G>A | p.= |
0/0
| | | |
Mutation details
|
| DSP | 23 | T1522M | c.4565C>T | p.Thr1522Met |
0/0
| | | |
Mutation details
|
| DSP | 23 | N1726K | c.5178C>A | p.Asn1726Lys |
0/150
| | | |
Mutation details
|
| DSP | 23 | E1740K | c.5218G>A | p.Glu1740Lys |
0/0
| | | |
Mutation details
|
| DSP | 23 | D1772D | c.5316T>C | p.= |
0/0
| Found once in 400 patients | | |
Mutation details
|
| DSP | 24 | Q1810X | c.5428C>T | p.Gln1810X |
0/0
| | | |
Mutation details
|
| DSP | 24 | V1817M | c.5449G>A | p.Val1817Met |
0/0
| Found once in 450 patients | | |
Mutation details
|
| DSP | 24 | E1833V | c.5498A>T | p.Glu1833Val |
0/0
| TFC- | | |
Mutation details
|
| DSP | 24 | A2150G | c.6449C>G | p.Ala2150Gly |
0/0
| | | |
Mutation details
|
| DSP | 24 | A2294G | c.6881C>G | p.Ala2294Gly |
0/0
| from Canada | | |
Mutation details
|
| DSP | 24 | D2673D | c.8019C>T | p.= |
0/0
| Found once in 500 patients | | |
Mutation details
|
| DSP | 24 | G2703R | c.8107G>A | p.Gly2703Arg |
0/0
| Found once in 350 patients | | |
Mutation details
|
| DSP | 24 | A2771V | c.8312C>T | p.Ala2771Val |
0/0
| | | |
Mutation details
|
| DSP | 24 | L2774L | c.8320C>T | p.= |
0/0
| Found once in 370 patients | | |
Mutation details
|
| DSP | 24 | A2805A | c.8415C>T | p.= |
0/0
| | | |
Mutation details
|
| DSP | 24 | R2834C | c.8500C>T | p.Arg2834Cys |
0/0
| | | |
Mutation details
|
| DSP | 24 | R2846G | c.8536C>G | p.Arg2846Gly |
0/0
| | | |
Mutation details
|
| DSP | 3'UTR | UTR | c.*42A>G | - |
0/124
| | | |
Mutation details
|
| JUP | 3 | E96K | c.286G>A | p.Glu96Lys |
0/160
| | | |
Mutation details
|
| JUP | 3 | S99S | c.297G>A | p.= |
0/0
| Found once in 140 patients | | |
Mutation details
|
| JUP | 3 | S125L | c.374C>T | p.Ser125Leu |
0/0
| CPVT | | Patient also carries variant in DSP: Y1217M |
Mutation details
|
| JUP | 4 | Intronic | c.469-48C>T | - |
0/0
| | | |
Mutation details
|
| JUP | 8 | Intronic | c.1159-21C>T | - |
0/0
| | | |
Mutation details
|
| JUP | 8 | E453D | c.1359G>T | p.Glu453Asp |
0/170
| | | |
Mutation details
|
| JUP | 9 | A521A | c.1563A>G | p.= |
0/0
| | | |
Mutation details
|
| JUP | 10 | Intronic | c.1773+27A>G | - |
0/0
| | | |
Mutation details
|
| JUP | 10 | Intronic | c.1773+57G>C | - |
0/0
| Found once in 250 patients | | |
Mutation details
|
| JUP | 11 | Intronic | c.1774-13C>T | - |
0/0
| Found once in 250 patients | | |
Mutation details
|
| JUP | 12 | Intronic | c.1925-40delG | - |
0/0
| | | |
Mutation details
|
| JUP | 12 | V648I | c.1942G>A | p.Val648Ile |
1/172
| | | found in 8/210 ARVC patients; one patient also carries PKP2 S70I |
Mutation details
|
| JUP | 13 | Intronic | c.2047-14C>G | - |
0/0
| | | |
Mutation details
|
| JUP | 14 | M704I | c.2112G>A | p.Met704Ile |
0/0
| Found once in 315 patients | | |
Mutation details
|
| JUP | 14 | M743V | c.2227T>A | p.Met743Val |
0/0
| Found once in 220 patients | | |
Mutation details
|
| PKP2 | 5'UTR | UTR | c.-22C>G | - |
0/0
| | | No effect on splicing |
Mutation details
|
| PKP2 | 5'UTR | UTR | c.-5G>T | - |
0/600
| from UK | | no cosegregation |
Mutation details
|
| PKP2 | 1 | Q19X | c.55C>T | p.Gln19X |
0/0
| | | |
Mutation details
|
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
5/210
| | | Personal communication from A. Rampazzo |
Mutation details
|
| PKP2 | 1 | D26N | c.76G>A | p.Asp26Asn |
0/0
| Found in 2/100 Caucasian probands, did not segregate with the disease in one family. | | Personal communication from B. Funke |
Mutation details
|
| PKP2 | 1 | K52K | c.156G>A | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 1 | R55R | c.165G>T | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 2 | R101H | c.302G>A | p.Arg101His |
0/0
| Found once in 460 patients | | |
Mutation details
|
| PKP2 | 2 | P103T | c.307C>A | p.Pro103Thr |
0/0
| TFC- | 2 | |
Mutation details
|
| PKP2 | 3 | E120X | c.358G>T | p.Glu120X |
0/0
| | | |
Mutation details
|
| PKP2 | 3 | S169G | c.505A>G | p.Ser169Gly |
0/0
| Found once in 400 patients | | |
Mutation details
|
| PKP2 | 3 | Y221X | c.663C>A | p.Tyr221X |
0/0
| | | |
Mutation details
|
| PKP2 | 3 | L281fsX301 | c.841delA | p.Thr281LeufsX21 |
| TFC+ | | |
Mutation details
|
| PKP2 | 3 | Q306fsX334 | c.917_918delCC | p.Pro318GlnfsX29 |
0/0
| | | |
Mutation details
|
| PKP2 | 3 | Q318fsX341 | c.951_983delinsAC | p.His318GlnfsX24 |
0/0
| | | Compound heterozygote: PKP2 c.1510+5G>A(UV) |
Mutation details
|
| PKP2 | 3 | A324A | c.972G>A | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 3 | G328R | c.982G>A | p.Gly328Arg |
0/100
| | | |
Mutation details
|
| PKP2 | 3 | G328A | c.983G>C | p.Gly328Ala |
0/0
| | | |
Mutation details
|
| PKP2 | 4 | A372P | c.1114G>C | p.Ala372Pro |
0/0
| | | |
Mutation details
|
| PKP2 | 4 | A372A | c.1116T>C | p.= |
0/0
| Found once in 500 patients | | |
Mutation details
|
| PKP2 | 4 | Splice | c.1170+1G>C | r.spl? |
0/0
| | | |
Mutation details
|
| PKP2 | 5 | Intronic | c.1171-11T>C | - |
0/0
| | | |
Mutation details
|
| PKP2 | 5 | E432E | c.1296G>A | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 5 | D460N | c.1378G>A | p.Asp460Asn |
0/0
| Found once in 450 patients | | Splice-prediction software SpliceSitefinder, MaxEntScan and NNSPLICE predict impaired recognition of WT splice donor site |
Mutation details
|
| PKP2 | 6 | Splice | c.1379-1G>A | r.spl? |
0/0
| | | |
Mutation details
|
| PKP2 | 6 | R490W | c.1468C>T | p.Arg490Trp |
0/0
| Found once in 400 patients | | |
Mutation details
|
| PKP2 | 6 | Intronic | c.1510+78G>A | - |
| | | |
Mutation details
|
| PKP2 | 7 | Intronic | c.1511-54G>A | - |
0/0
| | | |
Mutation details
|
| PKP2 | 7 | I531T | c.1592T>C | p.Ile531Thr |
1/94
| | | |
Mutation details
|
| PKP2 | 7 | I531S | c.1592T>G | p.Ile531Ser |
2/414
| TFC-; arrhythmia | | |
Mutation details
|
| PKP2 | 7 | N547N | c.1641T>C | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 7 | Intronic | c.1688+27T>C | - |
0/0
| | | |
Mutation details
|
| PKP2 | 7 | Intronic | c.1688+29G>A | - |
0/0
| | | |
Mutation details
|
| PKP2 | 8 | Intronic | c.1689-7_1689-8insT | - |
0/0
| | | |
Mutation details
|
| PKP2 | 9 | E605E | c.1815G>A | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 11 | S751S | c.2253G>A | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 12 | T798R | c.2393C>G | p.Thr798Arg |
0/0
| From 2 Canadian families | | |
Mutation details
|
| PKP2 | 12 | D829D | c.2487T>C | p.= |
0/0
| | | |
Mutation details
|
| PKP2 | 13 | Intronic | c.2577+70C>A | - |
0/0
| | | |
Mutation details
|
| PKP2 | 14 | T872I | c.2615C>T | p.Thr872Ile |
0/0
| TFC+ | 5 | Compound heterozygote: PKP2 Q133X |
Mutation details
|
| PKP2 | 14 | H877Q | c.2631C>A | p.His877Gln |
0/0
| TFC- | | |
Mutation details
|
| TMEM43 | 1 | Intronic | c.12+34G>C | - |
0/0
| | | |
Mutation details
|
| TMEM43 | 2 | M41V | c.121A>G | p.Met41Val |
0/0
| Found once in 150 patients | | |
Mutation details
|
| TMEM43 | 3 | Intronic | c.163-3delC | - |
0/0
| Found once in 200 patients | | |
Mutation details
|
| TMEM43 | 6 | Intronic | c.512+19G>T | - |
0/0
| | | |
Mutation details
|
| TMEM43 | 7 | Intronic | c.583+30G>A | - |
0/0
| Found once in 275 patients | | |
Mutation details
|
| TMEM43 | 8 | L208L | c.624A>G | p.= |
0/300
| | | |
Mutation details
|
| TMEM43 | 9 | R240C | c.718C>T | p.Arg240Cys |
0/0
| Found once in 200 patients | | Patient also carries a PKP2 mutation |
Mutation details
|
| TMEM43 | 10 | Intronic | c.781-42C>T | - |
0/0
| | | |
Mutation details
|
| TMEM43 | 10 | T282A | c.844 A>G | p.Thr282Ala |
0/0
| Found once in 275 patients | | |
Mutation details
|
| TMEM43 | 10 | Intronic | c.882+25G>A | - |
0/0
| | | |
Mutation details
|
| TMEM43 | 11 | R312W | c.934C>T | p.Arg312Trp |
4/500
| | | did not segregate with the disease in a family with a proband who died of SCD at age 25 and was diagnosed with ARVC post-mortem |
Mutation details
|
| TMEM43 | 12 | G318S | c.1141G>A | p.Gly381Ser |
0/0
| Found once in 250 patients | | |
Mutation details
|
| TMEM43 | 3'UTR | UTR | c.*8C>T | - |
0/0
| Found once in 275 patients | | |
Mutation details
|
| TMEM43 | 3'UTR | UTR | c.*31T>C | - |
3/300
| | | |
Mutation details
|
| TMEM43 | 3'UTR | UTR | c.*115T>C | - |
0/0
| | | |
Mutation details
|