NC_000010.11:g.(?_66621672)_(66621804_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000529383] |
Chr10:66621672..66621804 [GRCh38] Chr10:68381430..68381562 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1175C>T (p.Thr392Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000549297]|CTNNA3-related disorder [RCV004754469] |
Chr10:66766370 [GRCh38] Chr10:68526128 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.986T>C (p.Ile329Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000545764] |
Chr10:67180378 [GRCh38] Chr10:68940136 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.452T>G (p.Val151Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000527206]|not specified [RCV004024298] |
Chr10:67539510 [GRCh38] Chr10:69299268 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000552444]|not provided [RCV001770477]|not specified [RCV004024299] |
Chr10:67219671 [GRCh38] Chr10:68979429 [GRCh37] Chr10:10q21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000525867]|not provided [RCV001770476]|not specified [RCV001701083] |
Chr10:66069325 [GRCh38] Chr10:67829083 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NC_000010.10:g.(?_68381430)_(68526194_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000546549] |
Chr10:68381430..68526194 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 |
copy number loss |
See cases [RCV000052530] |
Chr10:62229688..74468143 [GRCh38] Chr10:63989447..76227901 [GRCh37] Chr10:63659453..75897907 [NCBI36] Chr10:10q21.2-22.2 |
pathogenic |
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 |
copy number loss |
See cases [RCV000052511] |
Chr10:58436466..74415216 [GRCh38] Chr10:60196226..76174974 [GRCh37] Chr10:59866232..75844980 [NCBI36] Chr10:10q21.1-22.2 |
pathogenic |
GRCh38/hg38 10q21.3(chr10:66544198-66756820)x1 |
copy number loss |
See cases [RCV000053241] |
Chr10:66544198..66756820 [GRCh38] Chr10:68303956..68516578 [GRCh37] Chr10:67973962..68186584 [NCBI36] Chr10:10q21.3 |
uncertain significance |
NM_178011.4(LRRTM3):c.285C>T (p.Asn95=) |
single nucleotide variant |
Malignant melanoma [RCV000069003] |
Chr10:66927201 [GRCh38] Chr10:68686959 [GRCh37] Chr10:68356965 [NCBI36] Chr10:10q21.3 |
not provided |
NM_013266.3(CTNNA3):c.1813C>T (p.Gln605Ter) |
single nucleotide variant |
Malignant melanoma [RCV000062061] |
Chr10:66280541 [GRCh38] Chr10:68040299 [GRCh37] Chr10:67710305 [NCBI36] Chr10:10q21.3 |
not provided |
NM_178011.4(LRRTM3):c.1582C>A (p.Pro528Thr) |
single nucleotide variant |
Malignant melanoma [RCV000062062] |
Chr10:67097632 [GRCh38] Chr10:68857390 [GRCh37] Chr10:68527396 [NCBI36] Chr10:10q21.3 |
not provided |
NM_013266.3(CTNNA3):c.819G>T (p.Leu273=) |
single nucleotide variant |
Malignant melanoma [RCV000062063] |
Chr10:67219631 [GRCh38] Chr10:68979389 [GRCh37] Chr10:68649395 [NCBI36] Chr10:10q21.3 |
not provided |
NM_013266.3(CTNNA3):c.218G>A (p.Gly73Glu) |
single nucleotide variant |
Malignant melanoma [RCV000062064] |
Chr10:67606931 [GRCh38] Chr10:69366689 [GRCh37] Chr10:69036695 [NCBI36] Chr10:10q21.3 |
not provided |
NM_178011.4(LRRTM3):c.95G>A (p.Arg32Gln) |
single nucleotide variant |
Malignant melanoma [RCV000069002] |
Chr10:66927011 [GRCh38] Chr10:68686769 [GRCh37] Chr10:68356775 [NCBI36] Chr10:10q21.3 |
not provided |
NM_178011.4(LRRTM3):c.1650G>A (p.Gln550=) |
single nucleotide variant |
Malignant melanoma [RCV000069004] |
Chr10:67097700 [GRCh38] Chr10:68857458 [GRCh37] Chr10:68527464 [NCBI36] Chr10:10q21.3 |
not provided |
NM_013266.3(CTNNA3):c.2265+931A>T |
single nucleotide variant |
Lung cancer [RCV000109286] |
Chr10:65987761 [GRCh38] Chr10:67747519 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.2160-23892G>A |
single nucleotide variant |
Lung cancer [RCV000109287] |
Chr10:66012689 [GRCh38] Chr10:67772447 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.2159+21855A>T |
single nucleotide variant |
Lung cancer [RCV000109288] |
Chr10:66047453 [GRCh38] Chr10:67807211 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1885-7891C>T |
single nucleotide variant |
Lung cancer [RCV000109289] |
Chr10:66111140 [GRCh38] Chr10:67870898 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1884+82782C>G |
single nucleotide variant |
Lung cancer [RCV000109290] |
Chr10:66197688 [GRCh38] Chr10:67957446 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1884+72656C>A |
single nucleotide variant |
Lung cancer [RCV000109291] |
Chr10:66207814 [GRCh38] Chr10:67967572 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1884+49204G>T |
single nucleotide variant |
Lung cancer [RCV000109292] |
Chr10:66231266 [GRCh38] Chr10:67991024 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1732+23106A>G |
single nucleotide variant |
Lung cancer [RCV000109293] |
Chr10:66356046 [GRCh38] Chr10:68115804 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1532-53336T>C |
single nucleotide variant |
Lung cancer [RCV000109294] |
Chr10:66432688 [GRCh38] Chr10:68192446 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1532-57272A>G |
single nucleotide variant |
Lung cancer [RCV000109295] |
Chr10:66436624 [GRCh38] Chr10:68196382 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1531+35358T>C |
single nucleotide variant |
Lung cancer [RCV000109296] |
Chr10:66485259 [GRCh38] Chr10:68245017 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1531+7361G>T |
single nucleotide variant |
Lung cancer [RCV000109297] |
Chr10:66513256 [GRCh38] Chr10:68273014 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1375-30704G>A |
single nucleotide variant |
Lung cancer [RCV000109298] |
Chr10:66551477 [GRCh38] Chr10:68311235 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1374+19942T>C |
single nucleotide variant |
Lung cancer [RCV000109299] |
Chr10:66601750 [GRCh38] Chr10:68361508 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1374+19040G>T |
single nucleotide variant |
Lung cancer [RCV000109300] |
Chr10:66602652 [GRCh38] Chr10:68362410 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1281+67498G>A |
single nucleotide variant |
Lung cancer [RCV000109301] |
Chr10:66698766 [GRCh38] Chr10:68458524 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1048-123978C>T |
single nucleotide variant |
Lung cancer [RCV000109302] |
Chr10:66899502 [GRCh38] Chr10:68659260 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1048-184709C>A |
single nucleotide variant |
Lung cancer [RCV000109303] |
Chr10:66960233 [GRCh38] Chr10:68719991 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1047+150078C>G |
single nucleotide variant |
Lung cancer [RCV000109304] |
Chr10:67030239 [GRCh38] Chr10:68789997 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1047+92069G>T |
single nucleotide variant |
Lung cancer [RCV000109305] |
Chr10:67088248 [GRCh38] Chr10:68848006 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.1047+66690G>T |
single nucleotide variant |
Lung cancer [RCV000109306] |
Chr10:67113627 [GRCh38] Chr10:68873385 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.580-24909C>G |
single nucleotide variant |
Lung cancer [RCV000109307] |
Chr10:67244779 [GRCh38] Chr10:69004537 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.580-109748T>C |
single nucleotide variant |
Lung cancer [RCV000109308] |
Chr10:67329618 [GRCh38] Chr10:69089376 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.579+120071T>C |
single nucleotide variant |
Lung cancer [RCV000109309] |
Chr10:67401771 [GRCh38] Chr10:69161529 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.579+33533G>T |
single nucleotide variant |
Lung cancer [RCV000109310] |
Chr10:67488309 [GRCh38] Chr10:69248067 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.579+11986C>G |
single nucleotide variant |
Lung cancer [RCV000109311] |
Chr10:67509856 [GRCh38] Chr10:69269614 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.99+5012G>T |
single nucleotide variant |
Lung cancer [RCV000109312] |
Chr10:67642403 [GRCh38] Chr10:69402161 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.3(CTNNA3):c.*5452G>A |
single nucleotide variant |
Lung cancer [RCV000109285] |
Chr10:65914878 [GRCh38] Chr10:67674636 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000087056] |
Chr10:67606868 [GRCh38] Chr10:69366626 [GRCh37] Chr10:10q21.3 |
pathogenic |
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del) |
microsatellite |
Arrhythmogenic right ventricular cardiomyopathy [RCV000487676]|Arrhythmogenic right ventricular dysplasia 13 [RCV000087057] |
Chr10:65966714..65966716 [GRCh38] Chr10:67726472..67726474 [GRCh37] Chr10:10q21.3 |
pathogenic |
NM_013266.4(CTNNA3):c.100-119C>T |
single nucleotide variant |
not provided [RCV001766216] |
Chr10:67607168 [GRCh38] Chr10:69366926 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2571del (p.Pro857_Leu858insTer) |
deletion |
Primary dilated cardiomyopathy [RCV000143876] |
Chr10:65920447 [GRCh38] Chr10:67680205 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001087086]|CTNNA3-related disorder [RCV004754311]|Primary dilated cardiomyopathy [RCV000143877]|not provided [RCV000865327] |
Chr10:65920445 [GRCh38] Chr10:67680203 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
GRCh38/hg38 10q21.3(chr10:66719462-66839674)x1 |
copy number loss |
See cases [RCV000134380] |
Chr10:66719462..66839674 [GRCh38] Chr10:68479220..68599432 [GRCh37] Chr10:68149226..68269438 [NCBI36] Chr10:10q21.3 |
benign |
GRCh38/hg38 10q21.3(chr10:66684077-66756761)x1 |
copy number loss |
See cases [RCV000134618] |
Chr10:66684077..66756761 [GRCh38] Chr10:68443835..68516519 [GRCh37] Chr10:68113841..68186525 [NCBI36] Chr10:10q21.3 |
benign |
GRCh38/hg38 10q21.3(chr10:66203935-66312974)x1 |
copy number loss |
See cases [RCV000135144] |
Chr10:66203935..66312974 [GRCh38] Chr10:67963693..68072732 [GRCh37] Chr10:67633699..67742738 [NCBI36] Chr10:10q21.3 |
likely benign |
GRCh38/hg38 10q21.3(chr10:66523779-66684077)x1 |
copy number loss |
See cases [RCV000135184] |
Chr10:66523779..66684077 [GRCh38] Chr10:68283537..68443835 [GRCh37] Chr10:67953543..68113841 [NCBI36] Chr10:10q21.3 |
likely benign |
GRCh38/hg38 10q21.3(chr10:66562861-66684077)x1 |
copy number loss |
See cases [RCV000135196] |
Chr10:66562861..66684077 [GRCh38] Chr10:68322619..68443835 [GRCh37] Chr10:67992625..68113841 [NCBI36] Chr10:10q21.3 |
likely benign |
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 |
copy number gain |
See cases [RCV000134848] |
Chr10:42685306..73715908 [GRCh38] Chr10:43180754..75475666 [GRCh37] Chr10:42500760..75145672 [NCBI36] Chr10:10q11.21-22.2 |
pathogenic |
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 |
copy number gain |
See cases [RCV000135438] |
Chr10:67196567..79422057 [GRCh38] Chr10:68956325..81181813 [GRCh37] Chr10:68626331..80851819 [NCBI36] Chr10:10q21.3-22.3 |
pathogenic |
GRCh38/hg38 10q21.3(chr10:66491807-66668026)x1 |
copy number loss |
See cases [RCV000136155] |
Chr10:66491807..66668026 [GRCh38] Chr10:68251565..68427784 [GRCh37] Chr10:67921571..68097790 [NCBI36] Chr10:10q21.3 |
benign |
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 |
copy number loss |
See cases [RCV000136658] |
Chr10:63402579..75296099 [GRCh38] Chr10:65162339..77055857 [GRCh37] Chr10:64832345..76725863 [NCBI36] Chr10:10q21.3-22.2 |
pathogenic|likely benign |
GRCh38/hg38 10q21.3(chr10:66312974-66523838)x1 |
copy number loss |
See cases [RCV000137658] |
Chr10:66312974..66523838 [GRCh38] Chr10:68072732..68283596 [GRCh37] Chr10:67742738..67953602 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.3(chr10:66236291-66599736)x1 |
copy number loss |
See cases [RCV000137357] |
Chr10:66236291..66599736 [GRCh38] Chr10:67996049..68359494 [GRCh37] Chr10:67666055..68029500 [NCBI36] Chr10:10q21.3 |
likely benign |
GRCh38/hg38 10q21.3(chr10:66756761-66919447)x1 |
copy number loss |
See cases [RCV000137232] |
Chr10:66756761..66919447 [GRCh38] Chr10:68516519..68679205 [GRCh37] Chr10:68186525..68349211 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.3(chr10:64673789-66599736)x1 |
copy number loss |
See cases [RCV000138115] |
Chr10:64673789..66599736 [GRCh38] Chr10:66433546..68359494 [GRCh37] Chr10:66103552..68029500 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 |
copy number gain |
See cases [RCV000138007] |
Chr10:50729367..87147204 [GRCh38] Chr10:52489127..88906961 [GRCh37] Chr10:52159133..88896941 [NCBI36] Chr10:10q11.23-23.2 |
pathogenic |
GRCh38/hg38 10q21.3(chr10:66523779-66756820)x1 |
copy number loss |
See cases [RCV000138010] |
Chr10:66523779..66756820 [GRCh38] Chr10:68283537..68516578 [GRCh37] Chr10:67953543..68186584 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.3(chr10:66491777-66719521)x1 |
copy number loss |
See cases [RCV000137760] |
Chr10:66491777..66719521 [GRCh38] Chr10:68251535..68479279 [GRCh37] Chr10:67921541..68149285 [NCBI36] Chr10:10q21.3 |
likely benign|uncertain significance |
GRCh38/hg38 10q21.3(chr10:66491777-66756820)x1 |
copy number loss |
See cases [RCV000137789] |
Chr10:66491777..66756820 [GRCh38] Chr10:68251535..68516578 [GRCh37] Chr10:67921541..68186584 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.3(chr10:66616757-67476125)x3 |
copy number gain |
See cases [RCV000138335] |
Chr10:66616757..67476125 [GRCh38] Chr10:68376515..69235883 [GRCh37] Chr10:68046521..68905889 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.3(chr10:66546165-66750807)x1 |
copy number loss |
See cases [RCV000140459] |
Chr10:66546165..66750807 [GRCh38] Chr10:68305923..68510565 [GRCh37] Chr10:67975929..68180571 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.3(chr10:66557571-66771907)x1 |
copy number loss |
See cases [RCV000139911] |
Chr10:66557571..66771907 [GRCh38] Chr10:68317329..68531665 [GRCh37] Chr10:67987335..68201671 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3 |
copy number gain |
See cases [RCV000141179] |
Chr10:55287177..67558442 [GRCh38] Chr10:57046937..69318200 [GRCh37] Chr10:56716943..68988206 [NCBI36] Chr10:10q21.1-21.3 |
pathogenic |
GRCh38/hg38 10q21.3(chr10:66312974-66394729)x1 |
copy number loss |
See cases [RCV000141180] |
Chr10:66312974..66394729 [GRCh38] Chr10:68072732..68154487 [GRCh37] Chr10:67742738..67824493 [NCBI36] Chr10:10q21.3 |
benign |
GRCh38/hg38 10q21.3(chr10:66562861-66599677)x1 |
copy number loss |
See cases [RCV000141181] |
Chr10:66562861..66599677 [GRCh38] Chr10:68322619..68359435 [GRCh37] Chr10:67992625..68029441 [NCBI36] Chr10:10q21.3 |
benign |
GRCh38/hg38 10q21.3(chr10:66312974-66491777)x1 |
copy number loss |
See cases [RCV000141187] |
Chr10:66312974..66491777 [GRCh38] Chr10:68072732..68251535 [GRCh37] Chr10:67742738..67921541 [NCBI36] Chr10:10q21.3 |
benign |
GRCh38/hg38 10q21.3(chr10:66394729-66599677)x1 |
copy number loss |
See cases [RCV000141192] |
Chr10:66394729..66599677 [GRCh38] Chr10:68154487..68359435 [GRCh37] Chr10:67824493..68029441 [NCBI36] Chr10:10q21.3 |
benign |
GRCh38/hg38 10q21.3(chr10:66535354-66758372)x1 |
copy number loss |
See cases [RCV000141981] |
Chr10:66535354..66758372 [GRCh38] Chr10:68295112..68518130 [GRCh37] Chr10:67965118..68188136 [NCBI36] Chr10:10q21.3 |
conflicting data from submitters |
GRCh38/hg38 10q21.3(chr10:67349841-67620538)x1 |
copy number loss |
See cases [RCV000142455] |
Chr10:67349841..67620538 [GRCh38] Chr10:69109599..69380296 [GRCh37] Chr10:68779605..69050302 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q21.3(chr10:66621526-66845254)x1 |
copy number loss |
See cases [RCV000142129] |
Chr10:66621526..66845254 [GRCh38] Chr10:68381284..68605012 [GRCh37] Chr10:68051290..68275018 [NCBI36] Chr10:10q21.3 |
uncertain significance |
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 |
copy number gain |
See cases [RCV000142967] |
Chr10:42112187..67400675 [GRCh38] Chr10:42607635..69160433 [GRCh37] Chr10:41927641..68830439 [NCBI36] Chr10:10q11.21-21.3 |
pathogenic |
GRCh38/hg38 10q21.3(chr10:66870487-67090125)x1 |
copy number loss |
See cases [RCV000142560] |
Chr10:66870487..67090125 [GRCh38] Chr10:68630245..68849883 [GRCh37] Chr10:68300251..68519889 [NCBI36] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.35A>T (p.Asp12Val) |
single nucleotide variant |
Long QT syndrome [RCV000157156] |
Chr10:67647479 [GRCh38] Chr10:69407237 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.242C>T (p.Thr81Ile) |
single nucleotide variant |
Primary dilated cardiomyopathy [RCV000157157] |
Chr10:67606907 [GRCh38] Chr10:69366665 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.377G>A (p.Arg126His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001211820]|Long QT syndrome [RCV000157158] |
Chr10:67539585 [GRCh38] Chr10:69299343 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000696692]|Primary familial hypertrophic cardiomyopathy [RCV000157159]|not provided [RCV000786290]|not specified [RCV004019893] |
Chr10:67539505 [GRCh38] Chr10:69299263 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.1031C>T (p.Ser344Leu) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000157160] |
Chr10:67180333 [GRCh38] Chr10:68940091 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2500C>T (p.Arg834Ter) |
single nucleotide variant |
Primary familial hypertrophic cardiomyopathy [RCV000157161] |
Chr10:65920518 [GRCh38] Chr10:67680276 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2588del (p.Lys863fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV002516352]|Left ventricular noncompaction cardiomyopathy [RCV000157162] |
Chr10:65920430 [GRCh38] Chr10:67680188 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NG_034072.1:g.1346469_1382469del36001 |
deletion |
Large for gestational age [RCV000161597]|Normal pregnancy [RCV000161599]|Small for gestational age [RCV000161596] |
Chr10:66318723..66354723 [GRCh38] Chr10:68078481..68114481 [GRCh37] Chr10:10q21.3 |
not provided |
Single allele |
deletion |
Gestational diabetes mellitus uncontrolled [RCV000161598] |
Chr10:66318723..66353837 [GRCh38] Chr10:68078481..68113595 [GRCh37] Chr10:10q21.3 |
not provided |
NM_013266.4(CTNNA3):c.1531+114G>A |
single nucleotide variant |
not provided [RCV001766077] |
Chr10:66520503 [GRCh38] Chr10:68280261 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000205894]|not provided [RCV001753621] |
Chr10:66766314 [GRCh38] Chr10:68526072 [GRCh37] Chr10:10q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_013266.4(CTNNA3):c.348A>C (p.Pro116=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000206494]|not provided [RCV001640312]|not specified [RCV001699068] |
Chr10:67539614 [GRCh38] Chr10:69299372 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000203767]|CTNNA3-related disorder [RCV003967558]|not provided [RCV001753622] |
Chr10:66621763 [GRCh38] Chr10:68381521 [GRCh37] Chr10:10q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 10q21.3(chr10:68211551-68516519)x1 |
copy number loss |
See cases [RCV000449074] |
Chr10:68211551..68516519 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.622C>T (p.Arg208Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001342430]|Left ventricular noncompaction cardiomyopathy [RCV000208145] |
Chr10:67219828 [GRCh38] Chr10:68979586 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1064G>A (p.Arg355Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000543388] |
Chr10:66775508 [GRCh38] Chr10:68535266 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1073C>A (p.Thr358Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000560482]|Primary familial hypertrophic cardiomyopathy [RCV000208397]|not provided [RCV000786291] |
Chr10:66775499 [GRCh38] Chr10:68535257 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001853297]|Primary familial hypertrophic cardiomyopathy [RCV000208496] |
Chr10:67606917 [GRCh38] Chr10:69366675 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2053A>G (p.Ser685Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002517391]|Primary dilated cardiomyopathy [RCV000208044] |
Chr10:66069414 [GRCh38] Chr10:67829172 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2430del (p.Ala811fs) |
deletion |
Primary dilated cardiomyopathy [RCV000208198] |
Chr10:65920588 [GRCh38] Chr10:67680346 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000228871]|not provided [RCV001725139]|not specified [RCV001699082] |
Chr10:66379281 [GRCh38] Chr10:68139039 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1865G>A (p.Cys622Tyr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000231702]|not specified [RCV004020836] |
Chr10:66280489 [GRCh38] Chr10:68040247 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.578A>G (p.Gln193Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000229714]|not provided [RCV004692859] |
Chr10:67521843 [GRCh38] Chr10:69281601 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.399G>A (p.Thr133=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000231892]|not provided [RCV001723820]|not specified [RCV001699084] |
Chr10:67539563 [GRCh38] Chr10:69299321 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000230167]|not provided [RCV001528772]|not specified [RCV001699083] |
Chr10:67647481 [GRCh38] Chr10:69407239 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.213C>G (p.Asp71Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000232378]|not specified [RCV004020838] |
Chr10:67606936 [GRCh38] Chr10:69366694 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.580-8C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000232573]|CTNNA3-related disorder [RCV003929984]|not provided [RCV001723821]|not specified [RCV001699246] |
Chr10:67219878 [GRCh38] Chr10:68979636 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000226194]|not provided [RCV001651092]|not specified [RCV001699166] |
Chr10:65920465 [GRCh38] Chr10:67680223 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
GRCh38/hg38 10q21.3(chr10:66318723-66354723)x1 |
copy number loss |
Large for gestational age [RCV000161597]|Normal pregnancy [RCV000161599]|Premature ovarian failure [RCV000225157]|Small for gestational age [RCV000161596] |
Chr10:66318723..66354723 [GRCh38] Chr10:68078481..68114481 [GRCh37] Chr10:10q21.3 |
benign|not provided |
NM_013266.4(CTNNA3):c.1047C>T (p.Asn349=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000233895]|not provided [RCV001709520]|not specified [RCV001699081] |
Chr10:67180317 [GRCh38] Chr10:68940075 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1978-9_1978-8del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001499995]|not provided [RCV000228400] |
Chr10:66069497..66069498 [GRCh38] Chr10:67829255..67829256 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000226671]|not provided [RCV000514836]|not specified [RCV004020837] |
Chr10:66103234 [GRCh38] Chr10:67862992 [GRCh37] Chr10:10q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000226862]|not provided [RCV001594881]|not specified [RCV001699262] |
Chr10:67521943 [GRCh38] Chr10:69281701 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.460-13T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002066757]|not provided [RCV004718757]|not specified [RCV000605484] |
Chr10:67521974 [GRCh38] Chr10:69281732 [GRCh37] Chr10:10q21.3 |
benign |
NC_000010.11:g.(?_66520597)_(66520793_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000551865] |
Chr10:66520597..66520793 [GRCh38] Chr10:68280355..68280551 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1532-1G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000490422] |
Chr10:66379353 [GRCh38] Chr10:68139111 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1841A>G (p.Tyr614Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000549732] |
Chr10:66280513 [GRCh38] Chr10:68040271 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1611G>A (p.Ala537=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000526777]|not provided [RCV001755897]|not specified [RCV003987602] |
Chr10:66379273 [GRCh38] Chr10:68139031 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NC_000010.10:g.(?_68940055)_(68940298_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV000530783] |
Chr10:67180297..67180540 [GRCh38] Chr10:68940055..68940298 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1587_1588delinsAT (p.Asp529_Ala530delinsGluSer) |
indel |
Arrhythmogenic right ventricular dysplasia 13 [RCV000550652]|not provided [RCV001675929] |
Chr10:66379296..66379297 [GRCh38] Chr10:68139054..68139055 [GRCh37] Chr10:10q21.3 |
benign |
NC_000010.11:g.(?_66520597)_(66621804_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000532582] |
Chr10:66520597..66621804 [GRCh38] Chr10:68280355..68381562 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68199177-68348456)x1 |
copy number loss |
not provided [RCV000415828] |
Chr10:68199177..68348456 [GRCh37] Chr10:10q21.3 |
likely benign |
GRCh37/hg19 10q21.3(chr10:68738624-68926461)x3 |
copy number gain |
not provided [RCV000416153] |
Chr10:68738624..68926461 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67726350)_(67748575_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000541541] |
Chr10:67726350..67748575 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1128+7G>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000536668] |
Chr10:66775437 [GRCh38] Chr10:68535195 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66621682)_(66621794_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000815266] |
Chr10:66621682..66621794 [GRCh38] Chr10:68381440..68381552 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68182308-68322619)x1 |
copy number loss |
See cases [RCV000446090] |
Chr10:68182308..68322619 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68395508-68465910)x1 |
copy number loss |
See cases [RCV000446961] |
Chr10:68395508..68465910 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68237581-68443835)x1 |
copy number loss |
See cases [RCV000447556] |
Chr10:68237581..68443835 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68772358-68885637)x3 |
copy number gain |
See cases [RCV000446714] |
Chr10:68772358..68885637 [GRCh37] Chr10:10q21.3 |
likely benign |
GRCh37/hg19 10q21.3(chr10:68322619-68465910)x1 |
copy number loss |
See cases [RCV000446186] |
Chr10:68322619..68465910 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68211551-68322619)x1 |
copy number loss |
See cases [RCV000445953] |
Chr10:68211551..68322619 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68322619-68558600)x1 |
copy number loss |
See cases [RCV000445688] |
Chr10:68322619..68558600 [GRCh37] Chr10:10q21.3 |
likely benign |
GRCh37/hg19 10q21.3(chr10:68182308-68290259)x1 |
copy number loss |
See cases [RCV000448923] |
Chr10:68182308..68290259 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10q21.3(chr10:68290259-68465910)x1 |
copy number loss |
See cases [RCV000448442] |
Chr10:68290259..68465910 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000458918]|not provided [RCV001700118]|not specified [RCV004022711] |
Chr10:66069488 [GRCh38] Chr10:67829246 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1823A>T (p.Asp608Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000466574] |
Chr10:66280531 [GRCh38] Chr10:68040289 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1949G>A (p.Ser650Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000470272] |
Chr10:66103185 [GRCh38] Chr10:67862943 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000473941]|CTNNA3-related disorder [RCV003972787]|not provided [RCV001675907]|not specified [RCV001700125] |
Chr10:66379229 [GRCh38] Chr10:68138987 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000474264]|not provided [RCV001703178]|not specified [RCV001700388] |
Chr10:66766350 [GRCh38] Chr10:68526108 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.429T>C (p.Asp143=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000459446]|not provided [RCV001702787]|not specified [RCV001701017] |
Chr10:67539533 [GRCh38] Chr10:69299291 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1132C>T (p.Arg378Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001081045]|CTNNA3-related disorder [RCV004754438]|not provided [RCV000463164]|not specified [RCV004022712] |
Chr10:66766413 [GRCh38] Chr10:68526171 [GRCh37] Chr10:10q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_013266.4(CTNNA3):c.412C>A (p.Leu138Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000468380] |
Chr10:67539550 [GRCh38] Chr10:69299308 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000463599]|CTNNA3-related disorder [RCV003972786]|not provided [RCV001529132]|not specified [RCV001700189] |
Chr10:66520695 [GRCh38] Chr10:68280453 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1872C>A (p.Val624=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000470890]|not provided [RCV004718695]|not specified [RCV000607421] |
Chr10:66280482 [GRCh38] Chr10:68040240 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.999C>A (p.Asn333Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000474693]|CTNNA3-related disorder [RCV003409628] |
Chr10:67180365 [GRCh38] Chr10:68940123 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1929C>T (p.His643=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000456182]|not provided [RCV001528596]|not specified [RCV001701016] |
Chr10:66103205 [GRCh38] Chr10:67862963 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1959C>T (p.Thr653=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001518163]|not provided [RCV000467723]|not specified [RCV004022962] |
Chr10:66103175 [GRCh38] Chr10:67862933 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000475329]|CTNNA3-related disorder [RCV004754442]|not provided [RCV001528590]|not specified [RCV001700387] |
Chr10:66766412 [GRCh38] Chr10:68526170 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.945G>A (p.Ala315=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000464096]|CTNNA3-related disorder [RCV004754443]|not specified [RCV004022966] |
Chr10:67180419 [GRCh38] Chr10:68940177 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1120C>T (p.Arg374Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000468111]|not specified [RCV004022709] |
Chr10:66775452 [GRCh38] Chr10:68535210 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1790C>T (p.Ser597Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000471849]|not specified [RCV004022713] |
Chr10:66280564 [GRCh38] Chr10:68040322 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.999C>T (p.Asn333=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000471991]|not specified [RCV004022964] |
Chr10:67180365 [GRCh38] Chr10:68940123 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2638dup (p.Ile880fs) |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV000457164]|not provided [RCV001529490] |
Chr10:65920379..65920380 [GRCh38] Chr10:67680137..67680138 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.393G>A (p.Ala131=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000464664]|not provided [RCV001643184]|not specified [RCV001700190] |
Chr10:67539569 [GRCh38] Chr10:69299327 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.264G>A (p.Thr88=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001417842]|CTNNA3-related disorder [RCV003960083]|not specified [RCV004022965] |
Chr10:67606885 [GRCh38] Chr10:69366643 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1894G>A (p.Glu632Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000461303] |
Chr10:66103240 [GRCh38] Chr10:67862998 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.974G>C (p.Arg325Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000465051] |
Chr10:67180390 [GRCh38] Chr10:68940148 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1450C>T (p.Arg484Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000468927] |
Chr10:66520698 [GRCh38] Chr10:68280456 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1507A>C (p.Ile503Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000476436] |
Chr10:66520641 [GRCh38] Chr10:68280399 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1883G>A (p.Arg628Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000476496] |
Chr10:66280471 [GRCh38] Chr10:68040229 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1536C>T (p.Ser512=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001450149] |
Chr10:66379348 [GRCh38] Chr10:68139106 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.742G>T (p.Ala248Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000465693] |
Chr10:67219708 [GRCh38] Chr10:68979466 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2528A>G (p.His843Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000458279] |
Chr10:65920490 [GRCh38] Chr10:67680248 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2501G>A (p.Arg834Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000462129] |
Chr10:65920517 [GRCh38] Chr10:67680275 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.483C>T (p.Leu161=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000473397]|CTNNA3-related disorder [RCV003925361]|not provided [RCV001726184]|not specified [RCV001700126] |
Chr10:67521938 [GRCh38] Chr10:69281696 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.880G>A (p.Glu294Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000477253]|not specified [RCV004022710] |
Chr10:67180484 [GRCh38] Chr10:68940242 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.156G>C (p.Ser52=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000462519]|not provided [RCV001770363]|not specified [RCV004022963] |
Chr10:67606993 [GRCh38] Chr10:69366751 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1604G>A (p.Arg535His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000469975] |
Chr10:66379280 [GRCh38] Chr10:68139038 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68274043-68564455)x1 |
copy number loss |
See cases [RCV000510355] |
Chr10:68274043..68564455 [GRCh37] Chr10:10q21.3 |
likely benign |
GRCh37/hg19 10q21.3(chr10:68085761-68778597)x1 |
copy number loss |
See cases [RCV000511536] |
Chr10:68085761..68778597 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10q21.3(chr10:68329181-68541248)x1 |
copy number loss |
See cases [RCV000511832] |
Chr10:68329181..68541248 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68080930-68405697)x1 |
copy number loss |
See cases [RCV000512005] |
Chr10:68080930..68405697 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68219763-68449956)x1 |
copy number loss |
See cases [RCV000510892] |
Chr10:68219763..68449956 [GRCh37] Chr10:10q21.3 |
likely benign |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NC_000010.10:g.(?_68280355)_(68535302_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV000553238] |
Chr10:66520597..66775544 [GRCh38] Chr10:68280355..68535302 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.155C>T (p.Ser52Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000537992]|not specified [RCV004024297] |
Chr10:67606994 [GRCh38] Chr10:69366752 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2158A>C (p.Arg720=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000538441]|not provided [RCV001727759]|not specified [RCV001700160] |
Chr10:66069309 [GRCh38] Chr10:67829067 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37] Chr10:10q11.21-26.3 |
drug response |
NM_013266.4(CTNNA3):c.649C>T (p.Leu217Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000539816] |
Chr10:67219801 [GRCh38] Chr10:68979559 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2125T>A (p.Cys709Ser) |
single nucleotide variant |
not specified [RCV004330646] |
Chr10:66069342 [GRCh38] Chr10:67829100 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1233A>G (p.Ile411Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000557271] |
Chr10:66766312 [GRCh38] Chr10:68526070 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.521A>G (p.Tyr174Cys) |
single nucleotide variant |
not specified [RCV004330645] |
Chr10:67521900 [GRCh38] Chr10:69281658 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2419C>T (p.Leu807=) |
single nucleotide variant |
not specified [RCV004330651] |
Chr10:65920599 [GRCh38] Chr10:67680357 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2234T>G (p.Met745Arg) |
single nucleotide variant |
not specified [RCV004330652] |
Chr10:65988723 [GRCh38] Chr10:67748481 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2438A>T (p.Asn813Ile) |
single nucleotide variant |
not specified [RCV004330653] |
Chr10:65920580 [GRCh38] Chr10:67680338 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1799T>A (p.Val600Glu) |
single nucleotide variant |
not specified [RCV004330655] |
Chr10:66280555 [GRCh38] Chr10:68040313 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2623T>C (p.Ser875Pro) |
single nucleotide variant |
not specified [RCV004330656] |
Chr10:65920395 [GRCh38] Chr10:67680153 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66766244)_(66775544_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000559139] |
Chr10:66766244..66775544 [GRCh38] Chr10:68526002..68535302 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1215T>C (p.Asn405=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000540614]|not specified [RCV004024296] |
Chr10:66766330 [GRCh38] Chr10:68526088 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1627C>T (p.Arg543Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000537123] |
Chr10:66379257 [GRCh38] Chr10:68139015 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1669C>T (p.His557Tyr) |
single nucleotide variant |
not specified [RCV004323037] |
Chr10:67097719 [GRCh38] Chr10:68857477 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1669A>G (p.Ser557Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651969] |
Chr10:66379215 [GRCh38] Chr10:68138973 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2630A>C (p.Lys877Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651970] |
Chr10:65920388 [GRCh38] Chr10:67680146 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.904A>G (p.Lys302Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651971] |
Chr10:67180460 [GRCh38] Chr10:68940218 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1733-1G>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651972] |
Chr10:66280622 [GRCh38] Chr10:68040380 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1007G>A (p.Arg336His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651973] |
Chr10:67180357 [GRCh38] Chr10:68940115 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651974]|not provided [RCV001756098]|not specified [RCV003987646] |
Chr10:65920494 [GRCh38] Chr10:67680252 [GRCh37] Chr10:10q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_013266.4(CTNNA3):c.1247C>T (p.Ala416Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651975] |
Chr10:66766298 [GRCh38] Chr10:68526056 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1183C>A (p.Pro395Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651976] |
Chr10:66766362 [GRCh38] Chr10:68526120 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.392C>T (p.Ala131Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651977] |
Chr10:67539570 [GRCh38] Chr10:69299328 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.78A>T (p.Leu26=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651978] |
Chr10:67647436 [GRCh38] Chr10:69407194 [GRCh37] Chr10:10q21.3 |
likely benign |
NC_000010.10:g.(?_68280355)_(68280551_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651979] |
Chr10:66520597..66520793 [GRCh38] Chr10:68280355..68280551 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66280450)_(66280641_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000651980] |
Chr10:66280450..66280641 [GRCh38] Chr10:68040208..68040399 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.293-19A>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002066756]|not provided [RCV004718756]|not specified [RCV000600625] |
Chr10:67539688 [GRCh38] Chr10:69299446 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.292+13A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002066755]|not provided [RCV004718754]|not specified [RCV000606132] |
Chr10:67606844 [GRCh38] Chr10:69366602 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.856C>A (p.Leu286Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000533141] |
Chr10:67180508 [GRCh38] Chr10:68940266 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000555603]|CTNNA3-related disorder [RCV004754470]|not provided [RCV001727760]|not specified [RCV001701084] |
Chr10:65988785 [GRCh38] Chr10:67748543 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.2266-10T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001520450]|not provided [RCV004718755]|not specified [RCV000611018] |
Chr10:65966756 [GRCh38] Chr10:67726514 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1 |
copy number loss |
not provided [RCV000513331] |
Chr10:68394411..70673475 [GRCh37] Chr10:10q21.3-22.1 |
likely pathogenic |
NM_013266.4(CTNNA3):c.843+1G>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000700547] |
Chr10:67219606 [GRCh38] Chr10:68979364 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68350060-68541249)x1 |
copy number loss |
not provided [RCV000683201] |
Chr10:68350060..68541249 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68381284-68607568)x1 |
copy number loss |
not provided [RCV000683207] |
Chr10:68381284..68607568 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68367907-68489915)x1 |
copy number loss |
not provided [RCV000683195] |
Chr10:68367907..68489915 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:67445709-67773309)x3 |
copy number gain |
not provided [RCV000683221] |
Chr10:67445709..67773309 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 |
copy number gain |
not provided [RCV000683289] |
Chr10:69040366..93194993 [GRCh37] Chr10:10q21.3-23.32 |
pathogenic |
NM_013266.4(CTNNA3):c.1819G>A (p.Val607Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000687964] |
Chr10:66280535 [GRCh38] Chr10:68040293 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1402G>A (p.Ala468Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000688572]|not specified [RCV004026299] |
Chr10:66520746 [GRCh38] Chr10:68280504 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.398C>T (p.Thr133Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000688631] |
Chr10:67539564 [GRCh38] Chr10:69299322 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1186C>G (p.Leu396Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000704232] |
Chr10:66766359 [GRCh38] Chr10:68526117 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.674G>T (p.Cys225Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000693534] |
Chr10:67219776 [GRCh38] Chr10:68979534 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.417G>A (p.Ala139=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000693926]|not specified [RCV004025175] |
Chr10:67539545 [GRCh38] Chr10:69299303 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.654G>T (p.Leu218Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000685295] |
Chr10:67219796 [GRCh38] Chr10:68979554 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1128+2T>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000689248] |
Chr10:66775442 [GRCh38] Chr10:68535200 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.974G>A (p.Arg325Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000699847]|not specified [RCV004026488] |
Chr10:67180390 [GRCh38] Chr10:68940148 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68040208)_(68381562_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV000708408] |
Chr10:66280450..66621804 [GRCh38] Chr10:68040208..68381562 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66379132)_(66379372_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000708466] |
Chr10:66379132..66379372 [GRCh38] Chr10:68138890..68139130 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2368C>G (p.Gln790Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000702469]|not specified [RCV004026593] |
Chr10:65966644 [GRCh38] Chr10:67726402 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.952T>C (p.Ser318Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000705963] |
Chr10:67180412 [GRCh38] Chr10:68940170 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66775424)_(66775544_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000708540] |
Chr10:66775424..66775544 [GRCh38] Chr10:68535182..68535302 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2278T>C (p.Ser760Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000694573]|not specified [RCV004025205] |
Chr10:65966734 [GRCh38] Chr10:67726492 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68370045-68527823)x1 |
copy number loss |
not provided [RCV000737168] |
Chr10:68370045..68527823 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68457608-68502854)x1 |
copy number loss |
not provided [RCV000737169] |
Chr10:68457608..68502854 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68479424-68607338)x1 |
copy number loss |
not provided [RCV000737170] |
Chr10:68479424..68607338 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68606886-68965526)x1 |
copy number loss |
not provided [RCV000737171] |
Chr10:68606886..68965526 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68732840-68922029)x3 |
copy number gain |
not provided [RCV000737172] |
Chr10:68732840..68922029 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68732840-68922242)x3 |
copy number gain |
not provided [RCV000737173] |
Chr10:68732840..68922242 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:69039309-69040095)x1 |
copy number loss |
not provided [RCV000737174] |
Chr10:69039309..69040095 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:69039517-69042380)x1 |
copy number loss |
not provided [RCV000737175] |
Chr10:69039517..69042380 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:69348758-69448289)x3 |
copy number gain |
not provided [RCV000737176] |
Chr10:69348758..69448289 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68065729-68114481)x1 |
copy number loss |
not provided [RCV000749656] |
Chr10:68065729..68114481 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68072084-68113595)x1 |
copy number loss |
not provided [RCV000749657] |
Chr10:68072084..68113595 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68072084-68114481)x1 |
copy number loss |
not provided [RCV000749658] |
Chr10:68072084..68114481 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68078481-68118450)x1 |
copy number loss |
not provided [RCV000749659] |
Chr10:68078481..68118450 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68078481-68122473)x1 |
copy number loss |
not provided [RCV000749660] |
Chr10:68078481..68122473 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68107483-68254082)x1 |
copy number loss |
not provided [RCV000749661] |
Chr10:68107483..68254082 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68122473-68242672)x1 |
copy number loss |
not provided [RCV000749662] |
Chr10:68122473..68242672 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68140020-68469477)x1 |
copy number loss |
not provided [RCV000749663] |
Chr10:68140020..68469477 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68150124-68224886)x1 |
copy number loss |
not provided [RCV000749664] |
Chr10:68150124..68224886 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68164444-68722086)x1 |
copy number loss |
not provided [RCV000749665] |
Chr10:68164444..68722086 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:68254082-68593916)x1 |
copy number loss |
not provided [RCV000749666] |
Chr10:68254082..68593916 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_013266.4(CTNNA3):c.292+236T>C |
single nucleotide variant |
not provided [RCV001609461] |
Chr10:67606621 [GRCh38] Chr10:69366379 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2400+206T>A |
single nucleotide variant |
not provided [RCV001680900] |
Chr10:65966406 [GRCh38] Chr10:67726164 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.-5-1241G>A |
single nucleotide variant |
not provided [RCV001766062] |
Chr10:67648759 [GRCh38] Chr10:69408517 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.18A>T (p.Pro6=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000861301]|not provided [RCV001528444]|not specified [RCV001700314] |
Chr10:67647496 [GRCh38] Chr10:69407254 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.969dup (p.His324fs) |
duplication |
not provided [RCV000994410] |
Chr10:67180394..67180395 [GRCh38] Chr10:68940152..68940153 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2575A>T (p.Ile859Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001044930] |
Chr10:65920443 [GRCh38] Chr10:67680201 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1732+275A>G |
single nucleotide variant |
not provided [RCV001643250] |
Chr10:66378877 [GRCh38] Chr10:68138635 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2525G>A (p.Arg842Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001067744] |
Chr10:65920493 [GRCh38] Chr10:67680251 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.*243G>A |
single nucleotide variant |
not provided [RCV001665873] |
Chr10:65920087 [GRCh38] Chr10:67679845 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.579+306G>A |
single nucleotide variant |
not provided [RCV001681714] |
Chr10:67521536 [GRCh38] Chr10:69281294 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2133C>T (p.Ile711=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000864046]|not specified [RCV004027612] |
Chr10:66069334 [GRCh38] Chr10:67829092 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.449A>G (p.His150Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002064533]|not provided [RCV000866267] |
Chr10:67539513 [GRCh38] Chr10:69299271 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2217A>T (p.Ser739=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002065698]|not specified [RCV004028518] |
Chr10:65988740 [GRCh38] Chr10:67748498 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1531+9T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003768713] |
Chr10:66520608 [GRCh38] Chr10:68280366 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2670A>G (p.Arg890=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001494021] |
Chr10:65920348 [GRCh38] Chr10:67680106 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.849A>G (p.Leu283=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002065972]|not specified [RCV004029473] |
Chr10:67180515 [GRCh38] Chr10:68940273 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2061G>A (p.Leu687=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000983257]|not specified [RCV004030077] |
Chr10:66069406 [GRCh38] Chr10:67829164 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1531+10T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000937430] |
Chr10:66520607 [GRCh38] Chr10:68280365 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.165C>T (p.Ala55=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000867394]|not specified [RCV004027698] |
Chr10:67606984 [GRCh38] Chr10:69366742 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.959C>T (p.Thr320Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001036763]|not specified [RCV004031001] |
Chr10:67180405 [GRCh38] Chr10:68940163 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.967T>A (p.Leu323Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001061374] |
Chr10:67180397 [GRCh38] Chr10:68940155 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.644C>T (p.Ser215Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001058974]|not specified [RCV004031859] |
Chr10:67219806 [GRCh38] Chr10:68979564 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1105A>T (p.Lys369Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001068651] |
Chr10:66775467 [GRCh38] Chr10:68535225 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.698C>T (p.Ser233Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001060630] |
Chr10:67219752 [GRCh38] Chr10:68979510 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66520607)_(66775534_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001033054] |
Chr10:68280365..68535292 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1787_1788delinsAT (p.Ser596Asn) |
indel |
Arrhythmogenic right ventricular dysplasia 13 [RCV001050842] |
Chr10:66280566..66280567 [GRCh38] Chr10:68040324..68040325 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.973C>T (p.Arg325Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000791464] |
Chr10:67180391 [GRCh38] Chr10:68940149 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66379142)_(66379362_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000815270] |
Chr10:66379142..66379362 [GRCh38] Chr10:68138900..68139120 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1936C>T (p.Arg646Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000861443]|CTNNA3-related disorder [RCV003948056]|not provided [RCV001759644]|not specified [RCV004029297] |
Chr10:66103198 [GRCh38] Chr10:67862956 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.387G>A (p.Leu129=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000861575]|not provided [RCV001724173]|not specified [RCV001701450] |
Chr10:67539575 [GRCh38] Chr10:69299333 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1374+10C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000869027] |
Chr10:66621682 [GRCh38] Chr10:68381440 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2172A>G (p.Pro724=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001428767] |
Chr10:65988785 [GRCh38] Chr10:67748543 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1850T>C (p.Ile617Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000863312] |
Chr10:66280504 [GRCh38] Chr10:68040262 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2378G>A (p.Gly793Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000862202]|CTNNA3-related disorder [RCV003928341]|not provided [RCV001759646]|not specified [RCV004702474] |
Chr10:65966634 [GRCh38] Chr10:67726392 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2601G>A (p.Thr867=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000862447]|not provided [RCV001729718]|not specified [RCV001729719] |
Chr10:65920417 [GRCh38] Chr10:67680175 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1508T>C (p.Ile503Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000796488]|not specified [RCV004609527] |
Chr10:66520640 [GRCh38] Chr10:68280398 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.40C>T (p.Gln14Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000801150] |
Chr10:67647474 [GRCh38] Chr10:69407232 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1219C>T (p.Arg407Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000807144]|not specified [RCV004028609] |
Chr10:66766326 [GRCh38] Chr10:68526084 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1571C>G (p.Ala524Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000794194] |
Chr10:66379313 [GRCh38] Chr10:68139071 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.670G>C (p.Ala224Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000805207]|not specified [RCV004028211] |
Chr10:67219780 [GRCh38] Chr10:68979538 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66520607)_(66520783_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000801982] |
Chr10:66520607..66520783 [GRCh38] Chr10:68280365..68280541 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.100-7A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000807397] |
Chr10:67607056 [GRCh38] Chr10:69366814 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1000G>A (p.Ala334Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000815565] |
Chr10:67180364 [GRCh38] Chr10:68940122 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2122A>G (p.Met708Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000795791]|not specified [RCV004027537] |
Chr10:66069345 [GRCh38] Chr10:67829103 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_69366605)_(69407286_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV000819216] |
Chr10:67606847..67647528 [GRCh38] Chr10:69366605..69407286 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2211G>C (p.Met737Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000796957] |
Chr10:65988746 [GRCh38] Chr10:67748504 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2501G>T (p.Arg834Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000801427] |
Chr10:65920517 [GRCh38] Chr10:67680275 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000802741]|CTNNA3-related disorder [RCV004754566] |
Chr10:66520697 [GRCh38] Chr10:68280455 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.99+5T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000817452] |
Chr10:67647410 [GRCh38] Chr10:69407168 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66766254)_(66775534_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV000810687] |
Chr10:66766254..66775534 [GRCh38] Chr10:68526012..68535292 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2427A>G (p.Gln809=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001067002] |
Chr10:65920591 [GRCh38] Chr10:67680349 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.2265+1G>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000824310] |
Chr10:65988691 [GRCh38] Chr10:67748449 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.305A>T (p.Lys102Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001043911] |
Chr10:67539657 [GRCh38] Chr10:69299415 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1793T>C (p.Leu598Ser) |
single nucleotide variant |
not provided [RCV000994408] |
Chr10:66280561 [GRCh38] Chr10:68040319 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.851T>C (p.Ile284Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003099960]|not specified [RCV004056217] |
Chr10:67180513 [GRCh38] Chr10:68940271 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1610C>T (p.Ala537Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000792851] |
Chr10:66379274 [GRCh38] Chr10:68139032 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68735255-68938523)x3 |
copy number gain |
not provided [RCV001006333] |
Chr10:68735255..68938523 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2117A>G (p.Lys706Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001044547]|not specified [RCV004031362] |
Chr10:66069350 [GRCh38] Chr10:67829108 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68208012-68437064)x1 |
copy number loss |
not provided [RCV001006332] |
Chr10:68208012..68437064 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2628A>G (p.Ala876=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001417972]|not specified [RCV004029644] |
Chr10:65920390 [GRCh38] Chr10:67680148 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1048-151703G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000988370] |
Chr10:66927227 [GRCh38] Chr10:68686985 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 |
copy number loss |
not provided [RCV001006319] |
Chr10:50250603..69256083 [GRCh37] Chr10:10q11.23-21.3 |
pathogenic |
NC_000010.11:g.(?_67539493)_(67539679_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001031108] |
Chr10:69299251..69299437 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001046288]|not provided [RCV001700690] |
Chr10:66379256 [GRCh38] Chr10:68139014 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2098G>A (p.Asp700Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001204805]|CTNNA3-related disorder [RCV003918777]|not provided [RCV001729812]|not specified [RCV004033629] |
Chr10:66069369 [GRCh38] Chr10:67829127 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.151C>T (p.Arg51Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001220363]|not specified [RCV004032389] |
Chr10:67606998 [GRCh38] Chr10:69366756 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1256A>G (p.His419Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001237643]|not specified [RCV004034559] |
Chr10:66766289 [GRCh38] Chr10:68526047 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.1651G>A (p.Val551Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001210255] |
Chr10:66379233 [GRCh38] Chr10:68138991 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2494A>T (p.Ile832Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001211338] |
Chr10:65920524 [GRCh38] Chr10:67680282 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001229751]|not provided [RCV001700723] |
Chr10:67180475 [GRCh38] Chr10:68940233 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1450C>A (p.Arg484Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001229242] |
Chr10:66520698 [GRCh38] Chr10:68280456 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2530C>G (p.Pro844Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001230025] |
Chr10:65920488 [GRCh38] Chr10:67680246 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.459+69G>A |
single nucleotide variant |
not provided [RCV001643625] |
Chr10:67539434 [GRCh38] Chr10:69299192 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1128+113dup |
duplication |
not provided [RCV001655121] |
Chr10:66775324..66775325 [GRCh38] Chr10:68535082..68535083 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.99+239TA[14] |
microsatellite |
not provided [RCV001652822] |
Chr10:67647147..67647148 [GRCh38] Chr10:69406905..69406906 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1375-267G>T |
single nucleotide variant |
not provided [RCV001679362] |
Chr10:66521040 [GRCh38] Chr10:68280798 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1251A>G (p.Ile417Met) |
single nucleotide variant |
not provided [RCV001528950] |
Chr10:66766294 [GRCh38] Chr10:68526052 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.99+218T>C |
single nucleotide variant |
not provided [RCV001679691] |
Chr10:67647197 [GRCh38] Chr10:69406955 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2129T>C (p.Met710Thr) |
single nucleotide variant |
not provided [RCV001699766] |
Chr10:66069338 [GRCh38] Chr10:67829096 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1375-199C>T |
single nucleotide variant |
not provided [RCV001616250] |
Chr10:66520972 [GRCh38] Chr10:68280730 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.451G>T (p.Val151Leu) |
single nucleotide variant |
not provided [RCV001699896]|not specified [RCV004039953] |
Chr10:67539511 [GRCh38] Chr10:69299269 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1351C>T (p.His451Tyr) |
single nucleotide variant |
not provided [RCV001699910] |
Chr10:66621715 [GRCh38] Chr10:68381473 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.460-322C>T |
single nucleotide variant |
not provided [RCV001676253] |
Chr10:67522283 [GRCh38] Chr10:69282041 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.99+239TA[9] |
microsatellite |
not provided [RCV001676550] |
Chr10:67647147..67647158 [GRCh38] Chr10:69406905..69406916 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1733-217dup |
duplication |
not provided [RCV001594512] |
Chr10:66280828..66280829 [GRCh38] Chr10:68040586..68040587 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2401-203A>G |
single nucleotide variant |
not provided [RCV001676693] |
Chr10:65920820 [GRCh38] Chr10:67680578 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:67805361-67914425)x1 |
copy number loss |
Intellectual disability, mild [RCV002284256] |
Chr10:67805361..67914425 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.843+17A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002073249]|not provided [RCV001691530]|not specified [RCV001699597] |
Chr10:67219590 [GRCh38] Chr10:68979348 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.540G>A (p.Glu180=) |
single nucleotide variant |
not provided [RCV000909773] |
Chr10:67521881 [GRCh38] Chr10:69281639 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1588G>T (p.Ala530Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000886761]|not provided [RCV001615077]|not specified [RCV001700490] |
Chr10:66379296 [GRCh38] Chr10:68139054 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2401-166C>T |
single nucleotide variant |
not provided [RCV001766144] |
Chr10:65920783 [GRCh38] Chr10:67680541 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1587T>A (p.Asp529Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV000886792]|not provided [RCV001655640]|not specified [RCV001701468] |
Chr10:66379297 [GRCh38] Chr10:68139055 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1885-4A>G |
single nucleotide variant |
not provided [RCV000979151] |
Chr10:66103253 [GRCh38] Chr10:67863011 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1091A>G (p.Asp364Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001049054]|not provided [RCV004697032] |
Chr10:66775481 [GRCh38] Chr10:68535239 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1048-3C>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001235400] |
Chr10:66775527 [GRCh38] Chr10:68535285 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.764C>T (p.Ala255Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001244591]|not specified [RCV004034793] |
Chr10:67219686 [GRCh38] Chr10:68979444 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.592C>A (p.Pro198Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001240119]|not specified [RCV004034639] |
Chr10:67219858 [GRCh38] Chr10:68979616 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1771G>A (p.Glu591Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001248588] |
Chr10:66280583 [GRCh38] Chr10:68040341 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.844-2A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001234602] |
Chr10:67180522 [GRCh38] Chr10:68940280 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1220G>A (p.Arg407Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001211961] |
Chr10:66766325 [GRCh38] Chr10:68526083 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1A>C (p.Met1Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001244043] |
Chr10:67647513 [GRCh38] Chr10:69407271 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2617C>T (p.Arg873Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001048818] |
Chr10:65920401 [GRCh38] Chr10:67680159 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1248G>A (p.Ala416=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002568879]|not provided [RCV001529802]|not specified [RCV001729941] |
Chr10:66766297 [GRCh38] Chr10:68526055 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.-5-1035G>A |
single nucleotide variant |
not provided [RCV001637620] |
Chr10:67648553 [GRCh38] Chr10:69408311 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.580-225C>T |
single nucleotide variant |
not provided [RCV001721873] |
Chr10:67220095 [GRCh38] Chr10:68979853 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1281+197A>G |
single nucleotide variant |
not provided [RCV001719504] |
Chr10:66766067 [GRCh38] Chr10:68525825 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.99+239TA[13] |
microsatellite |
not provided [RCV001662876] |
Chr10:67647147..67647150 [GRCh38] Chr10:69406905..69406908 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.843+22G>C |
single nucleotide variant |
not provided [RCV001719606] |
Chr10:67219585 [GRCh38] Chr10:68979343 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2401-289A>G |
single nucleotide variant |
not provided [RCV001609361] |
Chr10:65920906 [GRCh38] Chr10:67680664 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.99+239TA[16] |
microsatellite |
not provided [RCV001640961] |
Chr10:67647146..67647147 [GRCh38] Chr10:69406904..69406905 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1282-79A>G |
single nucleotide variant |
not provided [RCV001636077] |
Chr10:66621863 [GRCh38] Chr10:68381621 [GRCh37] Chr10:10q21.3 |
benign |
GRCh37/hg19 10q21.3(chr10:69066516-70079295)x3 |
copy number gain |
not provided [RCV001006334] |
Chr10:69066516..70079295 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2160-304G>A |
single nucleotide variant |
not provided [RCV001715969] |
Chr10:65989101 [GRCh38] Chr10:67748859 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1128+262C>G |
single nucleotide variant |
not provided [RCV001715974] |
Chr10:66775182 [GRCh38] Chr10:68534940 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.892C>G (p.Pro298Ala) |
single nucleotide variant |
not provided [RCV001723266] |
Chr10:67180472 [GRCh38] Chr10:68940230 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1047+3461C>T |
single nucleotide variant |
not provided [RCV001659543] |
Chr10:67176856 [GRCh38] Chr10:68936614 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1732+188A>G |
single nucleotide variant |
not provided [RCV001719508] |
Chr10:66378964 [GRCh38] Chr10:68138722 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.99+11C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002077135]|not provided [RCV001700887]|not specified [RCV001700888] |
Chr10:67647404 [GRCh38] Chr10:69407162 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.-5-232T>G |
single nucleotide variant |
not provided [RCV001716686] |
Chr10:67647750 [GRCh38] Chr10:69407508 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1375-144_1375-141del |
microsatellite |
not provided [RCV001719505] |
Chr10:66520914..66520917 [GRCh38] Chr10:68280672..68280675 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1374+88dup |
duplication |
not provided [RCV001719506] |
Chr10:66621591..66621592 [GRCh38] Chr10:68381349..68381350 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1531+178G>A |
single nucleotide variant |
not provided [RCV001719507] |
Chr10:66520439 [GRCh38] Chr10:68280197 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2160-292G>A |
single nucleotide variant |
not provided [RCV001710650] |
Chr10:65989089 [GRCh38] Chr10:67748847 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.843+164A>T |
single nucleotide variant |
not provided [RCV001619496] |
Chr10:67219443 [GRCh38] Chr10:68979201 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.100-270T>C |
single nucleotide variant |
not provided [RCV001698921] |
Chr10:67607319 [GRCh38] Chr10:69367077 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1531+16T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002073258]|not provided [RCV001698715]|not specified [RCV001700800] |
Chr10:66520601 [GRCh38] Chr10:68280359 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2265+160G>A |
single nucleotide variant |
not provided [RCV001598747] |
Chr10:65988532 [GRCh38] Chr10:67748290 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.843+323A>G |
single nucleotide variant |
not provided [RCV001715973] |
Chr10:67219284 [GRCh38] Chr10:68979042 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.293-291T>C |
single nucleotide variant |
not provided [RCV001598876] |
Chr10:67539960 [GRCh38] Chr10:69299718 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2401-293G>T |
single nucleotide variant |
not provided [RCV001678449] |
Chr10:65920910 [GRCh38] Chr10:67680668 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2482G>A (p.Ala828Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001066421] |
Chr10:65920536 [GRCh38] Chr10:67680294 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.580-300G>T |
single nucleotide variant |
not provided [RCV001685746] |
Chr10:67220170 [GRCh38] Chr10:68979928 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1532-279G>C |
single nucleotide variant |
not provided [RCV001666889] |
Chr10:66379631 [GRCh38] Chr10:68139389 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.460-324T>G |
single nucleotide variant |
not provided [RCV001667997] |
Chr10:67522285 [GRCh38] Chr10:69282043 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.99+239TA[19] |
microsatellite |
not provided [RCV001713927] |
Chr10:67647146..67647147 [GRCh38] Chr10:69406904..69406905 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.579+15T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002073011]|not provided [RCV001654516]|not specified [RCV001701210] |
Chr10:67521827 [GRCh38] Chr10:69281585 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2401-23dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV002539698]|not provided [RCV001703338]|not specified [RCV001700901] |
Chr10:65920634..65920635 [GRCh38] Chr10:67680392..67680393 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NC_000010.11:g.67606900_67606901insAlu |
insertion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001089837] |
Chr10:67606900..67606901 [GRCh38] Chr10:69366658..69366659 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.580-51T>A |
single nucleotide variant |
not provided [RCV001725069] |
Chr10:67219921 [GRCh38] Chr10:68979679 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1978-298G>A |
single nucleotide variant |
not provided [RCV001614648] |
Chr10:66069787 [GRCh38] Chr10:67829545 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2540T>C (p.Met847Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001048486]|not specified [RCV004031509] |
Chr10:65920478 [GRCh38] Chr10:67680236 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.100-41dup |
duplication |
not provided [RCV001540556] |
Chr10:67607089..67607090 [GRCh38] Chr10:69366847..69366848 [GRCh37] Chr10:10q21.3 |
benign |
NC_000010.11:g.(?_66520607)_(66520783_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV001032086] |
Chr10:68280365..68280541 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.767C>T (p.Ser256Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002568196]|not provided [RCV001531689]|not specified [RCV004039222] |
Chr10:67219683 [GRCh38] Chr10:68979441 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1073C>T (p.Thr358Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001233068] |
Chr10:66775499 [GRCh38] Chr10:68535257 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.796C>T (p.Pro266Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001220250] |
Chr10:67219654 [GRCh38] Chr10:68979412 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.99+3A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001216158] |
Chr10:67647412 [GRCh38] Chr10:69407170 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001235946]|not provided [RCV001699522] |
Chr10:67647447 [GRCh38] Chr10:69407205 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.541C>A (p.Leu181Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001235000] |
Chr10:67521880 [GRCh38] Chr10:69281638 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2127T>G (p.Cys709Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001053743] |
Chr10:66069340 [GRCh38] Chr10:67829098 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.130C>G (p.Pro44Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001219114]|not specified [RCV004032351] |
Chr10:67607019 [GRCh38] Chr10:69366777 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.694G>C (p.Ala232Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001236198] |
Chr10:67219756 [GRCh38] Chr10:68979514 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1421C>T (p.Ala474Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001051864]|not provided [RCV001759785] |
Chr10:66520727 [GRCh38] Chr10:68280485 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.2568dup (p.Pro857fs) |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV001218397] |
Chr10:65920449..65920450 [GRCh38] Chr10:67680207..67680208 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66520607)_(66621794_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001033329] |
Chr10:68280365..68381552 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2324A>G (p.Tyr775Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001062629] |
Chr10:65966688 [GRCh38] Chr10:67726446 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001062709]|not provided [RCV001700691] |
Chr10:67219618 [GRCh38] Chr10:68979376 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1128+2T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001069700]|CTNNA3-related disorder [RCV003938433] |
Chr10:66775442 [GRCh38] Chr10:68535200 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.907C>T (p.Arg303Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001056748]|not specified [RCV004031790] |
Chr10:67180457 [GRCh38] Chr10:68940215 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.11:g.(?_66621682)_(66775534_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001033891] |
Chr10:68381440..68535292 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1691C>T (p.Thr564Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001063260] |
Chr10:66379193 [GRCh38] Chr10:68138951 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.283C>T (p.Arg95Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001053122] |
Chr10:67606866 [GRCh38] Chr10:69366624 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4:c.1532_1884del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV004799368] |
|
uncertain significance |
NM_013266.4(CTNNA3):c.1630G>A (p.Ala544Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002002199] |
Chr10:66379254 [GRCh38] Chr10:68139012 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2265+2T>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001303594] |
Chr10:65988690 [GRCh38] Chr10:67748448 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.844-15G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002070361]|not provided [RCV001529381]|not specified [RCV001699810] |
Chr10:67180535 [GRCh38] Chr10:68940293 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.1885-122G>A |
single nucleotide variant |
not provided [RCV001766217] |
Chr10:66103371 [GRCh38] Chr10:67863129 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1880T>A (p.Ile627Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001324712] |
Chr10:66280474 [GRCh38] Chr10:68040232 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2041A>G (p.Lys681Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001341576]|not specified [RCV004035968] |
Chr10:66069426 [GRCh38] Chr10:67829184 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.421A>G (p.Met141Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001315742] |
Chr10:67539541 [GRCh38] Chr10:69299299 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2377G>A (p.Gly793Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001338300]|not specified [RCV004035860] |
Chr10:65966635 [GRCh38] Chr10:67726393 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68280365)_(68280541_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia, familial, 13 [RCV001296201] |
Chr10:68280365..68280541 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.844-5C>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001319316] |
Chr10:67180525 [GRCh38] Chr10:68940283 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1382A>G (p.Asn461Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001341473]|not specified [RCV004035966] |
Chr10:66520766 [GRCh38] Chr10:68280524 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1853A>G (p.His618Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001307838] |
Chr10:66280501 [GRCh38] Chr10:68040259 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68280355)_(68535302_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia, familial, 13 [RCV001325174] |
Chr10:68280355..68535302 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1739C>T (p.Pro580Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001309222]|not specified [RCV004034198] |
Chr10:66280615 [GRCh38] Chr10:68040373 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.181T>C (p.Ser61Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001296800] |
Chr10:67606968 [GRCh38] Chr10:69366726 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67726350)_(67748575_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia, familial, 13 [RCV001296203] |
Chr10:67726350..67748575 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2278T>A (p.Ser760Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001294257] |
Chr10:65966734 [GRCh38] Chr10:67726492 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.293-10T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001342567] |
Chr10:67539679 [GRCh38] Chr10:69299437 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1884+5G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001318799] |
Chr10:66280465 [GRCh38] Chr10:68040223 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.935C>T (p.Ala312Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001321534]|not provided [RCV003416205] |
Chr10:67180429 [GRCh38] Chr10:68940187 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1278A>G (p.Val426=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001414448]|not specified [RCV004038115] |
Chr10:66766267 [GRCh38] Chr10:68526025 [GRCh37] Chr10:10q21.3 |
likely benign |
NC_000010.10:g.(?_67862905)_(68535292_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001325172] |
Chr10:67862905..68535292 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.674G>A (p.Cys225Tyr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001314386] |
Chr10:67219776 [GRCh38] Chr10:68979534 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67829056)_(67829257_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001374196] |
Chr10:67829056..67829257 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68138890)_(68280551_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001374197] |
Chr10:68138890..68280551 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_69366605)_(69366817_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001296202] |
Chr10:69366605..69366817 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68940069)_(68979634_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV001296205] |
Chr10:68940069..68979634 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2066C>T (p.Ala689Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001303989]|not provided [RCV001699530] |
Chr10:66069401 [GRCh38] Chr10:67829159 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2562A>G (p.Ala854=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001434046] |
Chr10:65920456 [GRCh38] Chr10:67680214 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1774G>T (p.Ala592Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001306507] |
Chr10:66280580 [GRCh38] Chr10:68040338 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001373945] |
Chr10:67539531 [GRCh38] Chr10:69299289 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1205C>A (p.Ala402Asp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001364919] |
Chr10:66766340 [GRCh38] Chr10:68526098 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2023G>A (p.Glu675Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001321750] |
Chr10:66069444 [GRCh38] Chr10:67829202 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.16C>G (p.Pro6Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001321859] |
Chr10:67647498 [GRCh38] Chr10:69407256 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2589G>T (p.Lys863Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001313006] |
Chr10:65920429 [GRCh38] Chr10:67680187 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.376C>T (p.Arg126Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001322050]|not specified [RCV004035049] |
Chr10:67539586 [GRCh38] Chr10:69299344 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.323T>C (p.Phe108Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001363074]|not specified [RCV004036862] |
Chr10:67539639 [GRCh38] Chr10:69299397 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68280365)_(68280541_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia, familial, 13 [RCV001296204] |
Chr10:68280365..68280541 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2006A>T (p.Glu669Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001338985]|not specified [RCV004035878] |
Chr10:66069461 [GRCh38] Chr10:67829219 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.517A>G (p.Thr173Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001323296] |
Chr10:67521904 [GRCh38] Chr10:69281662 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1927C>T (p.His643Tyr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001361508] |
Chr10:66103207 [GRCh38] Chr10:67862965 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.214A>G (p.Lys72Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001372477] |
Chr10:67606935 [GRCh38] Chr10:69366693 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68138900)_(68139120_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia, familial, 13 [RCV001323559] |
Chr10:68138900..68139120 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1645C>A (p.His549Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001359812] |
Chr10:66379239 [GRCh38] Chr10:68138997 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68040218)_(68040389_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001339345] |
Chr10:68040218..68040389 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1933G>C (p.Val645Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001363844] |
Chr10:66103201 [GRCh38] Chr10:67862959 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_69299251)_(69299437_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia, familial, 13 [RCV001325171] |
Chr10:69299251..69299437 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68940065)_(68940288_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV001325173] |
Chr10:68940065..68940288 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.433A>G (p.Met145Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001360273] |
Chr10:67539529 [GRCh38] Chr10:69299287 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2080T>C (p.Trp694Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001338590] |
Chr10:66069387 [GRCh38] Chr10:67829145 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2550G>A (p.Met850Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001326976]|not provided [RCV004692513] |
Chr10:65920468 [GRCh38] Chr10:67680226 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2686T>C (p.Ter896Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001341094] |
Chr10:65920332 [GRCh38] Chr10:67680090 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1282G>A (p.Val428Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001298696] |
Chr10:66621784 [GRCh38] Chr10:68381542 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1121G>A (p.Arg374His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001295694] |
Chr10:66775451 [GRCh38] Chr10:68535209 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.370G>A (p.Ala124Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001295695]|not specified [RCV004036012] |
Chr10:67539592 [GRCh38] Chr10:69299350 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1897C>T (p.Leu633=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001464754] |
Chr10:66103237 [GRCh38] Chr10:67862995 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2460A>G (p.Gln820=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001416603] |
Chr10:65920558 [GRCh38] Chr10:67680316 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2614A>C (p.Arg872=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001495687]|not provided [RCV004706221] |
Chr10:65920404 [GRCh38] Chr10:67680162 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1192G>A (p.Val398Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001482702]|not provided [RCV001751772]|not specified [RCV004037233] |
Chr10:66766353 [GRCh38] Chr10:68526111 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.378T>C (p.Arg126=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001475284] |
Chr10:67539584 [GRCh38] Chr10:69299342 [GRCh37] Chr10:10q21.3 |
likely benign |
GRCh37/hg19 10q21.3(chr10:66337001-67764000)x3 |
copy number gain |
See cases [RCV001526489] |
Chr10:66337001..67764000 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2523C>T (p.Pro841=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001459438]|not specified [RCV004038572] |
Chr10:65920495 [GRCh38] Chr10:67680253 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1885-9T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001397896]|not provided [RCV001751755] |
Chr10:66103258 [GRCh38] Chr10:67863016 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.768A>G (p.Ser256=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001429552]|CTNNA3-related disorder [RCV004754756]|not specified [RCV004038277] |
Chr10:67219682 [GRCh38] Chr10:68979440 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1236A>G (p.Lys412=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001424286] |
Chr10:66766309 [GRCh38] Chr10:68526067 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1532-12A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002071891]|not provided [RCV001528386] |
Chr10:66379364 [GRCh38] Chr10:68139122 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1740T>C (p.Pro580=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001411977] |
Chr10:66280614 [GRCh38] Chr10:68040372 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.66C>T (p.Thr22=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001449161]|not specified [RCV004038473] |
Chr10:67647448 [GRCh38] Chr10:69407206 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.405C>T (p.Leu135=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001439851]|not specified [RCV004038375] |
Chr10:67539557 [GRCh38] Chr10:69299315 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1836G>A (p.Lys612=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001405452]|not provided [RCV001529116]|not specified [RCV001701157] |
Chr10:66280518 [GRCh38] Chr10:68040276 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.2054G>A (p.Ser685Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001437130] |
Chr10:66069413 [GRCh38] Chr10:67829171 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.844-10C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001431031] |
Chr10:67180530 [GRCh38] Chr10:68940288 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.954A>G (p.Ser318=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001447203]|not specified [RCV004038452] |
Chr10:67180410 [GRCh38] Chr10:68940168 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2647T>C (p.Leu883=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001410773] |
Chr10:65920371 [GRCh38] Chr10:67680129 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1695A>G (p.Glu565=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001418784]|not specified [RCV004038161] |
Chr10:66379189 [GRCh38] Chr10:68138947 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1035G>A (p.Glu345=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001410761]|not specified [RCV004038068] |
Chr10:67180329 [GRCh38] Chr10:68940087 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1476C>T (p.Val492=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001405891]|not specified [RCV004038013] |
Chr10:66520672 [GRCh38] Chr10:68280430 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1617T>C (p.Ala539=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001442809]|not specified [RCV004038410] |
Chr10:66379267 [GRCh38] Chr10:68139025 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1674C>T (p.Tyr558=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001411206]|not specified [RCV004038073] |
Chr10:66379210 [GRCh38] Chr10:68138968 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.718A>G (p.Thr240Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001411217]|not provided [RCV001724316]|not specified [RCV001699786] |
Chr10:67219732 [GRCh38] Chr10:68979490 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.2572T>C (p.Leu858=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001425770] |
Chr10:65920446 [GRCh38] Chr10:67680204 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1263C>T (p.His421=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001439167] |
Chr10:66766282 [GRCh38] Chr10:68526040 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1962A>G (p.Glu654=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001398775]|not specified [RCV004037797] |
Chr10:66103172 [GRCh38] Chr10:67862930 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.930G>T (p.Gly310=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001411693]|not specified [RCV004038081] |
Chr10:67180434 [GRCh38] Chr10:68940192 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1182C>T (p.Val394=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001394027]|not specified [RCV004037747] |
Chr10:66766363 [GRCh38] Chr10:68526121 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1732+8A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001472285]|not provided [RCV001529315]|not specified [RCV001701169] |
Chr10:66379144 [GRCh38] Chr10:68138902 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.579+105G>C |
single nucleotide variant |
not provided [RCV001540019] |
Chr10:67521737 [GRCh38] Chr10:69281495 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.99+239TA[8] |
microsatellite |
not provided [RCV001681770] |
Chr10:67647147..67647160 [GRCh38] Chr10:69406905..69406918 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2104A>G (p.Ile702Val) |
single nucleotide variant |
not provided [RCV001698860] |
Chr10:66069363 [GRCh38] Chr10:67829121 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1532-7C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001474116] |
Chr10:66379359 [GRCh38] Chr10:68139117 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1318G>A (p.Asp440Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001510805]|not specified [RCV004037918] |
Chr10:66621748 [GRCh38] Chr10:68381506 [GRCh37] Chr10:10q21.3 |
benign|uncertain significance |
NM_013266.4(CTNNA3):c.1455A>G (p.Thr485=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001469627]|not specified [RCV004038688] |
Chr10:66520693 [GRCh38] Chr10:68280451 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1532-32C>T |
single nucleotide variant |
not provided [RCV001686353] |
Chr10:66379384 [GRCh38] Chr10:68139142 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.-5-255T>G |
single nucleotide variant |
not provided [RCV001654801] |
Chr10:67647773 [GRCh38] Chr10:69407531 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.870A>C (p.Thr290=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001477237]|not specified [RCV004611830] |
Chr10:67180494 [GRCh38] Chr10:68940252 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.460-161T>C |
single nucleotide variant |
not provided [RCV001613785] |
Chr10:67522122 [GRCh38] Chr10:69281880 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1006C>A (p.Arg336Ser) |
single nucleotide variant |
not provided [RCV001699712]|not specified [RCV004039947] |
Chr10:67180358 [GRCh38] Chr10:68940116 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.-5-1528A>G |
single nucleotide variant |
not provided [RCV001715968] |
Chr10:67649046 [GRCh38] Chr10:69408804 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2271A>G (p.Pro757=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001478351] |
Chr10:65966741 [GRCh38] Chr10:67726499 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1281+173A>G |
single nucleotide variant |
not provided [RCV001617006] |
Chr10:66766091 [GRCh38] Chr10:68525849 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2404G>T (p.Asp802Tyr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001495678] |
Chr10:65920614 [GRCh38] Chr10:67680372 [GRCh37] Chr10:10q21.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001520451]|not provided [RCV001655779]|not specified [RCV001699572] |
Chr10:66280567 [GRCh38] Chr10:68040325 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.822A>C (p.Gly274=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001477687] |
Chr10:67219628 [GRCh38] Chr10:68979386 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1692G>A (p.Thr564=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001399640]|not specified [RCV004037804] |
Chr10:66379192 [GRCh38] Chr10:68138950 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.177A>G (p.Leu59=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001501801] |
Chr10:67606972 [GRCh38] Chr10:69366730 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1614T>C (p.Gly538=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001458465] |
Chr10:66379270 [GRCh38] Chr10:68139028 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1792T>C (p.Leu598=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001442674] |
Chr10:66280562 [GRCh38] Chr10:68040320 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1176G>A (p.Thr392=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001488334]|not specified [RCV004037289] |
Chr10:66766369 [GRCh38] Chr10:68526127 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1365G>A (p.Leu455=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001486124] |
Chr10:66621701 [GRCh38] Chr10:68381459 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1978-9A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001519757] |
Chr10:66069498 [GRCh38] Chr10:67829256 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.828C>T (p.Ala276=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001392857] |
Chr10:67219622 [GRCh38] Chr10:68979380 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1937G>A (p.Arg646His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001402285]|not specified [RCV004599261] |
Chr10:66103197 [GRCh38] Chr10:67862955 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.898C>T (p.Leu300=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001479530] |
Chr10:67180466 [GRCh38] Chr10:68940224 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.699C>G (p.Ser233=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001463965]|not specified [RCV004038628] |
Chr10:67219751 [GRCh38] Chr10:68979509 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002032706]|not provided [RCV001730219] |
Chr10:66379163 [GRCh38] Chr10:68138921 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.946del (p.Asp316fs) |
deletion |
not provided [RCV001726817] |
Chr10:67180418 [GRCh38] Chr10:68940176 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1374+284C>A |
single nucleotide variant |
not provided [RCV001768105] |
Chr10:66621408 [GRCh38] Chr10:68381166 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1884+242A>G |
single nucleotide variant |
not provided [RCV001768185] |
Chr10:66280228 [GRCh38] Chr10:68039986 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.293-245C>G |
single nucleotide variant |
not provided [RCV001769774] |
Chr10:67539914 [GRCh38] Chr10:69299672 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1047+3462C>T |
single nucleotide variant |
not provided [RCV001769931] |
Chr10:67176855 [GRCh38] Chr10:68936613 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2266-98T>C |
single nucleotide variant |
not provided [RCV001769512] |
Chr10:65966844 [GRCh38] Chr10:67726602 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1047+3683G>C |
single nucleotide variant |
not provided [RCV001757716] |
Chr10:67176634 [GRCh38] Chr10:68936392 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1129-22T>C |
single nucleotide variant |
not provided [RCV001759324] |
Chr10:66766438 [GRCh38] Chr10:68526196 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2266-206T>A |
single nucleotide variant |
not provided [RCV001766218] |
Chr10:65966952 [GRCh38] Chr10:67726710 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2375T>C (p.Leu792Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001733649] |
Chr10:65966637 [GRCh38] Chr10:67726395 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1375-168T>G |
single nucleotide variant |
not provided [RCV001752965] |
Chr10:66520941 [GRCh38] Chr10:68280699 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2401-86C>T |
single nucleotide variant |
not provided [RCV001753046] |
Chr10:65920703 [GRCh38] Chr10:67680461 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1531+163C>T |
single nucleotide variant |
not provided [RCV001752903] |
Chr10:66520454 [GRCh38] Chr10:68280212 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.460-291A>G |
single nucleotide variant |
not provided [RCV001752942] |
Chr10:67522252 [GRCh38] Chr10:69282010 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1129-44T>C |
single nucleotide variant |
not provided [RCV001753063] |
Chr10:66766460 [GRCh38] Chr10:68526218 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1374+247C>T |
single nucleotide variant |
not provided [RCV001768178] |
Chr10:66621445 [GRCh38] Chr10:68381203 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1281+4A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002540668]|not provided [RCV001768195] |
Chr10:66766260 [GRCh38] Chr10:68526018 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.1281+291T>C |
single nucleotide variant |
not provided [RCV001753207] |
Chr10:66765973 [GRCh38] Chr10:68525731 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1128+38G>A |
single nucleotide variant |
not provided [RCV001755470] |
Chr10:66775406 [GRCh38] Chr10:68535164 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2554G>T (p.Ala852Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001809182] |
Chr10:65920464 [GRCh38] Chr10:67680222 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.376C>G (p.Arg126Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001907691] |
Chr10:67539586 [GRCh38] Chr10:69299344 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1823A>G (p.Asp608Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001889384] |
Chr10:66280531 [GRCh38] Chr10:68040289 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.108del (p.Leu37_Val38insTer) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001970600] |
Chr10:67607041 [GRCh38] Chr10:69366799 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.425T>C (p.Ile142Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001896895]|CTNNA3-related disorder [RCV003407928] |
Chr10:67539537 [GRCh38] Chr10:69299295 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.313G>T (p.Ala105Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002025832] |
Chr10:67539649 [GRCh38] Chr10:69299407 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.772G>A (p.Gly258Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002006147]|not specified [RCV004045213] |
Chr10:67219678 [GRCh38] Chr10:68979436 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.493G>A (p.Ala165Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001914448]|not specified [RCV004044076] |
Chr10:67521928 [GRCh38] Chr10:69281686 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.448C>T (p.His150Tyr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001864215]|not specified [RCV004039677] |
Chr10:67539514 [GRCh38] Chr10:69299272 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1154T>C (p.Val385Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002023869]|not provided [RCV004697188] |
Chr10:66766391 [GRCh38] Chr10:68526149 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68208022-68265397)x1 |
copy number loss |
not provided [RCV001834317] |
Chr10:68208022..68265397 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.957T>A (p.Cys319Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001947925] |
Chr10:67180407 [GRCh38] Chr10:68940165 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2582G>C (p.Arg861Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001983222] |
Chr10:65920436 [GRCh38] Chr10:67680194 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1241A>G (p.Tyr414Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001891562] |
Chr10:66766304 [GRCh38] Chr10:68526062 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.76C>A (p.Leu26Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001947344] |
Chr10:67647438 [GRCh38] Chr10:69407196 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2054G>C (p.Ser685Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001947495] |
Chr10:66069413 [GRCh38] Chr10:67829171 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2044A>G (p.Lys682Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001965931] |
Chr10:66069423 [GRCh38] Chr10:67829181 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68295495-68526163)x1 |
copy number loss |
not provided [RCV001825181] |
Chr10:68295495..68526163 [GRCh37] Chr10:10q21.3 |
not provided |
NM_013266.4(CTNNA3):c.1574T>C (p.Leu525Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001969862]|not specified [RCV004043191] |
Chr10:66379310 [GRCh38] Chr10:68139068 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1978-3T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001967787] |
Chr10:66069492 [GRCh38] Chr10:67829250 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.919A>T (p.Ile307Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001927853] |
Chr10:67180445 [GRCh38] Chr10:68940203 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68461721-68608284)x1 |
copy number loss |
not provided [RCV001827945] |
Chr10:68461721..68608284 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2688A>G (p.Ter896Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002043234] |
Chr10:65920330 [GRCh38] Chr10:67680088 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1006C>T (p.Arg336Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002022774]|not specified [RCV004046071] |
Chr10:67180358 [GRCh38] Chr10:68940116 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1836G>T (p.Lys612Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001969775]|not provided [RCV003418233] |
Chr10:66280518 [GRCh38] Chr10:68040276 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2242C>T (p.Leu748Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002041549] |
Chr10:65988715 [GRCh38] Chr10:67748473 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3(chr10:68842730-68970039)x1 |
copy number loss |
not provided [RCV001827843] |
Chr10:68842730..68970039 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68381430)_(69407271_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV001967371] |
Chr10:68381430..69407271 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1346C>G (p.Ala449Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001893862] |
Chr10:66621720 [GRCh38] Chr10:68381478 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2167G>A (p.Gly723Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001986785] |
Chr10:65988790 [GRCh38] Chr10:67748548 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.16_17insA (p.Pro6fs) |
insertion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001964701] |
Chr10:67647497..67647498 [GRCh38] Chr10:69407255..69407256 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.980G>A (p.Arg327Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002002059]|not specified [RCV004042954] |
Chr10:67180384 [GRCh38] Chr10:68940142 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) |
copy number loss |
not specified [RCV002052875] |
Chr10:68735254..78885714 [GRCh37] Chr10:10q21.3-22.3 |
pathogenic |
NM_013266.4(CTNNA3):c.793_797dup (p.Glu267fs) |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV002041752] |
Chr10:67219652..67219653 [GRCh38] Chr10:68979410..68979411 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1094A>G (p.Asn365Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001927673]|not specified [RCV004042612] |
Chr10:66775478 [GRCh38] Chr10:68535236 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.770A>G (p.Gln257Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002039652]|not specified [RCV004038865] |
Chr10:67219680 [GRCh38] Chr10:68979438 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.34G>A (p.Asp12Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002014401] |
Chr10:67647480 [GRCh38] Chr10:69407238 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2134A>G (p.Met712Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001957770] |
Chr10:66069333 [GRCh38] Chr10:67829091 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1059del (p.Glu354fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001888232] |
Chr10:66775513 [GRCh38] Chr10:68535271 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.571C>T (p.Arg191Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001992981] |
Chr10:67521850 [GRCh38] Chr10:69281608 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1172A>T (p.Asp391Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002030182]|not specified [RCV004038752] |
Chr10:66766373 [GRCh38] Chr10:68526131 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.106A>C (p.Thr36Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001904861] |
Chr10:67607043 [GRCh38] Chr10:69366801 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68040208)_(68040399_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV001943036] |
Chr10:68040208..68040399 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.623G>A (p.Arg208Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002010216]|not specified [RCV004045358] |
Chr10:67219827 [GRCh38] Chr10:68979585 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68381430)_(68535302_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001918893] |
Chr10:68381430..68535302 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.646C>T (p.Pro216Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002016896] |
Chr10:67219804 [GRCh38] Chr10:68979562 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1012G>A (p.Ala338Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001883071] |
Chr10:67180352 [GRCh38] Chr10:68940110 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2684A>G (p.Tyr895Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001935309]|not specified [RCV004611976] |
Chr10:65920334 [GRCh38] Chr10:67680092 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1334T>C (p.Val445Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002031056] |
Chr10:66621732 [GRCh38] Chr10:68381490 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2260A>C (p.Asn754His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001935373] |
Chr10:65988697 [GRCh38] Chr10:67748455 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2126G>A (p.Cys709Tyr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001898386]|not specified [RCV004041496] |
Chr10:66069341 [GRCh38] Chr10:67829099 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1724C>G (p.Thr575Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001917117] |
Chr10:66379160 [GRCh38] Chr10:68138918 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.362T>A (p.Val121Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001875314] |
Chr10:67539600 [GRCh38] Chr10:69299358 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1882C>A (p.Arg628=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001956686] |
Chr10:66280472 [GRCh38] Chr10:68040230 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1955A>G (p.Gln652Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001995931]|not specified [RCV004042500] |
Chr10:66103179 [GRCh38] Chr10:67862937 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.373G>T (p.Ala125Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002016051] |
Chr10:67539589 [GRCh38] Chr10:69299347 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.38del (p.Pro13fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001959626] |
Chr10:67647476 [GRCh38] Chr10:69407234 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2351A>G (p.Gln784Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001899050] |
Chr10:65966661 [GRCh38] Chr10:67726419 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.334C>T (p.Pro112Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001923278] |
Chr10:67539628 [GRCh38] Chr10:69299386 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.473T>C (p.Phe158Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001899259] |
Chr10:67521948 [GRCh38] Chr10:69281706 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.416C>T (p.Ala139Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001940826]|not specified [RCV004042016] |
Chr10:67539546 [GRCh38] Chr10:69299304 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.99G>A (p.Gln33=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001917932] |
Chr10:67647415 [GRCh38] Chr10:69407173 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.778C>T (p.Gln260Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001881396] |
Chr10:67219672 [GRCh38] Chr10:68979430 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67862895)_(67863027_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001955891] |
Chr10:67862895..67863027 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68535192)_(68535292_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001922910] |
Chr10:68535192..68535292 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.682C>T (p.His228Tyr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001933146] |
Chr10:67219768 [GRCh38] Chr10:68979526 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.794C>T (p.Pro265Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001936506]|not specified [RCV004041872] |
Chr10:67219656 [GRCh38] Chr10:68979414 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2455G>A (p.Val819Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001934514] |
Chr10:65920563 [GRCh38] Chr10:67680321 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2174T>A (p.Leu725Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001973701] |
Chr10:65988783 [GRCh38] Chr10:67748541 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_69366595)_(69407271_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV001918896] |
Chr10:69366595..69407271 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68280355)_(68535302_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001879727] |
Chr10:68280355..68535302 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1849A>G (p.Ile617Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001883868] |
Chr10:66280505 [GRCh38] Chr10:68040263 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1657G>T (p.Gly553Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001959250]|not specified [RCV004044555] |
Chr10:66379227 [GRCh38] Chr10:68138985 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2248C>T (p.Arg750Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001923620]|not specified [RCV004044085] |
Chr10:65988709 [GRCh38] Chr10:67748467 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2563A>G (p.Lys855Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001886118] |
Chr10:65920455 [GRCh38] Chr10:67680213 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2616A>C (p.Arg872Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001957801] |
Chr10:65920402 [GRCh38] Chr10:67680160 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2265+1del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001921507] |
Chr10:65988691 [GRCh38] Chr10:67748449 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67829046)_(68280551_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV001978942] |
Chr10:67829046..68280551 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67680088)_(68535302_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV002011826] |
Chr10:67680088..68535302 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1459G>A (p.Glu487Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV001936501]|not specified [RCV004041871] |
Chr10:66520689 [GRCh38] Chr10:68280447 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2017A>T (p.Ile673Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002033477]|not specified [RCV004612073] |
Chr10:66069450 [GRCh38] Chr10:67829208 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67680088)_(71332799_?)del |
deletion |
not provided [RCV001956019] |
Chr10:67680088..71332799 [GRCh37] Chr10:10q21.3-22.1 |
pathogenic|uncertain significance |
NM_013266.4(CTNNA3):c.480T>A (p.Ser160=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002190945] |
Chr10:67521941 [GRCh38] Chr10:69281699 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.489T>C (p.Asn163=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002185120] |
Chr10:67521932 [GRCh38] Chr10:69281690 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1733-20C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002166938] |
Chr10:66280641 [GRCh38] Chr10:68040399 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1272G>A (p.Arg424=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002169109]|not specified [RCV004047060] |
Chr10:66766273 [GRCh38] Chr10:68526031 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1566C>T (p.Ile522=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002107529] |
Chr10:66379318 [GRCh38] Chr10:68139076 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2159+15A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002147394] |
Chr10:66069293 [GRCh38] Chr10:67829051 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1794G>A (p.Leu598=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002189305] |
Chr10:66280560 [GRCh38] Chr10:68040318 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.843+8G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002111406] |
Chr10:67219599 [GRCh38] Chr10:68979357 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2349T>C (p.Ser783=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002126069] |
Chr10:65966663 [GRCh38] Chr10:67726421 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2205G>A (p.Ala735=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002112601]|CTNNA3-related disorder [RCV003951059] |
Chr10:65988752 [GRCh38] Chr10:67748510 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.633G>A (p.Leu211=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002089710] |
Chr10:67219817 [GRCh38] Chr10:68979575 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1282-18T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002192680] |
Chr10:66621802 [GRCh38] Chr10:68381560 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.894A>G (p.Pro298=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002086645]|not specified [RCV004046444] |
Chr10:67180470 [GRCh38] Chr10:68940228 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.882G>A (p.Glu294=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002085288] |
Chr10:67180482 [GRCh38] Chr10:68940240 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2159+13A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002076032] |
Chr10:66069295 [GRCh38] Chr10:67829053 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1885-16T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002085731] |
Chr10:66103265 [GRCh38] Chr10:67863023 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1282-13G>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002206827] |
Chr10:66621797 [GRCh38] Chr10:68381555 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1800G>A (p.Val600=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002168793]|not specified [RCV004046401] |
Chr10:66280554 [GRCh38] Chr10:68040312 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1282-16T>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002084951] |
Chr10:66621800 [GRCh38] Chr10:68381558 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.36T>C (p.Asp12=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002167625] |
Chr10:67647478 [GRCh38] Chr10:69407236 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.24A>G (p.Thr8=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002091486]|not specified [RCV004046451] |
Chr10:67647490 [GRCh38] Chr10:69407248 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1848A>T (p.Thr616=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002152348]|not specified [RCV004046354] |
Chr10:66280506 [GRCh38] Chr10:68040264 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1375-15T>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002080567] |
Chr10:66520788 [GRCh38] Chr10:68280546 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2259T>C (p.Ala753=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002081011]|not specified [RCV004045724] |
Chr10:65988698 [GRCh38] Chr10:67748456 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1732+16A>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002088496] |
Chr10:66379136 [GRCh38] Chr10:68138894 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1491A>G (p.Val497=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002108305]|not specified [RCV004046464] |
Chr10:66520657 [GRCh38] Chr10:68280415 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.843+7C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002190691] |
Chr10:67219600 [GRCh38] Chr10:68979358 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.580-14A>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002094593] |
Chr10:67219884 [GRCh38] Chr10:68979642 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.480T>C (p.Ser160=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002085947]|not specified [RCV004045756] |
Chr10:67521941 [GRCh38] Chr10:69281699 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2401-11T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002115125] |
Chr10:65920628 [GRCh38] Chr10:67680386 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1281+18601C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002115302] |
Chr10:66747663 [GRCh38] Chr10:68507421 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2058G>A (p.Lys686=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002149353] |
Chr10:66069409 [GRCh38] Chr10:67829167 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2617C>A (p.Arg873=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002144940] |
Chr10:65920401 [GRCh38] Chr10:67680159 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1422G>A (p.Ala474=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002090071]|CTNNA3-related disorder [RCV004754834]|not specified [RCV004044963] |
Chr10:66520726 [GRCh38] Chr10:68280484 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.156G>A (p.Ser52=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002215497] |
Chr10:67606993 [GRCh38] Chr10:69366751 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1048-19C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002212881] |
Chr10:66775543 [GRCh38] Chr10:68535301 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1978-7G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002173884] |
Chr10:66069496 [GRCh38] Chr10:67829254 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2532A>G (p.Pro844=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002197829] |
Chr10:65920486 [GRCh38] Chr10:67680244 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.843+12G>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002179261] |
Chr10:67219595 [GRCh38] Chr10:68979353 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1488C>T (p.Ala496=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002217077]|not specified [RCV004045639] |
Chr10:66520660 [GRCh38] Chr10:68280418 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1884+7T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002118398] |
Chr10:66280463 [GRCh38] Chr10:68040221 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1461G>A (p.Glu487=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002100925]|not specified [RCV004045816] |
Chr10:66520687 [GRCh38] Chr10:68280445 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1978-11A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002103265] |
Chr10:66069500 [GRCh38] Chr10:67829258 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1531+12T>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002162075] |
Chr10:66520605 [GRCh38] Chr10:68280363 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.867C>G (p.Leu289=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002102963]|not specified [RCV004045797] |
Chr10:67180497 [GRCh38] Chr10:68940255 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1048-18G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002162930] |
Chr10:66775542 [GRCh38] Chr10:68535300 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1884+9G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002179489] |
Chr10:66280461 [GRCh38] Chr10:68040219 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1375-10A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002182994] |
Chr10:66520783 [GRCh38] Chr10:68280541 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1977+18G>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002203858] |
Chr10:66103139 [GRCh38] Chr10:67862897 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.2025G>A (p.Glu675=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002119545]|not specified [RCV004045848] |
Chr10:66069442 [GRCh38] Chr10:67829200 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1509T>C (p.Ile503=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002181617] |
Chr10:66520639 [GRCh38] Chr10:68280397 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.420C>T (p.Asp140=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002176603] |
Chr10:67539542 [GRCh38] Chr10:69299300 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2160-19T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002217976] |
Chr10:65988816 [GRCh38] Chr10:67748574 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1199T>C (p.Ile400Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003110836] |
Chr10:66766346 [GRCh38] Chr10:68526104 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1611G>T (p.Ala537=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003112549] |
Chr10:66379273 [GRCh38] Chr10:68139031 [GRCh37] Chr10:10q21.3 |
likely benign |
NC_000010.10:g.(?_67680088)_(67680395_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003116627] |
Chr10:67680088..67680395 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_69281580)_(69407271_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003116628] |
Chr10:69281580..69407271 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68280355)_(68526194_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003116629] |
Chr10:68280355..68526194 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68138890)_(68381562_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV003116630] |
Chr10:68138890..68381562 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67829046)_(68139130_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV003116631] |
Chr10:67829046..68139130 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_69366595)_(69366827_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003116632] |
Chr10:69366595..69366827 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68507421)_(68526194_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003116633] |
Chr10:68507421..68526194 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.761del (p.Asn254fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003118845] |
Chr10:67219689 [GRCh38] Chr10:68979447 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1780A>C (p.Ser594Arg) |
single nucleotide variant |
not specified [RCV004330642] |
Chr10:66280574 [GRCh38] Chr10:68040332 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1870G>C (p.Val624Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583224]|not specified [RCV004330647] |
Chr10:66280484 [GRCh38] Chr10:68040242 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2568del (p.Lys856fs) |
deletion |
Malignant tumor of urinary bladder [RCV002276252] |
Chr10:65920450 [GRCh38] Chr10:67680208 [GRCh37] Chr10:10q21.3 |
likely pathogenic |
NM_013266.4(CTNNA3):c.371C>T (p.Ala124Val) |
single nucleotide variant |
not specified [RCV004049755] |
Chr10:67539591 [GRCh38] Chr10:69299349 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.375C>T (p.Ala125=) |
single nucleotide variant |
not specified [RCV004048026] |
Chr10:67539587 [GRCh38] Chr10:69299345 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.160del (p.Arg54fs) |
deletion |
Long QT syndrome [RCV003318462] |
Chr10:67606989 [GRCh38] Chr10:69366747 [GRCh37] Chr10:10q21.3 |
pathogenic|likely pathogenic |
NM_013266.4(CTNNA3):c.1255C>A (p.His419Asn) |
single nucleotide variant |
not specified [RCV004055388] |
Chr10:66766290 [GRCh38] Chr10:68526048 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.989C>T (p.Ala330Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003103622]|not specified [RCV004057684] |
Chr10:67180375 [GRCh38] Chr10:68940133 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.261T>C (p.Leu87=) |
single nucleotide variant |
not specified [RCV004062965] |
Chr10:67606888 [GRCh38] Chr10:69366646 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2581A>G (p.Arg861Gly) |
single nucleotide variant |
not specified [RCV004062808] |
Chr10:65920437 [GRCh38] Chr10:67680195 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2635A>C (p.Lys879Gln) |
single nucleotide variant |
not specified [RCV004063484] |
Chr10:65920383 [GRCh38] Chr10:67680141 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.302T>C (p.Leu101Pro) |
single nucleotide variant |
not specified [RCV004066325] |
Chr10:67539660 [GRCh38] Chr10:69299418 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2028A>G (p.Gln676=) |
single nucleotide variant |
not specified [RCV004059549] |
Chr10:66069439 [GRCh38] Chr10:67829197 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2677C>A (p.Gln893Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003102100]|not specified [RCV004063611] |
Chr10:65920341 [GRCh38] Chr10:67680099 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.816C>T (p.Thr272=) |
single nucleotide variant |
not specified [RCV004055514] |
Chr10:67219634 [GRCh38] Chr10:68979392 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1959C>G (p.Thr653=) |
single nucleotide variant |
not specified [RCV004061525] |
Chr10:66103175 [GRCh38] Chr10:67862933 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2021C>A (p.Ala674Asp) |
single nucleotide variant |
not specified [RCV004059523] |
Chr10:66069446 [GRCh38] Chr10:67829204 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2036A>T (p.Asp679Val) |
single nucleotide variant |
not specified [RCV004059583] |
Chr10:66069431 [GRCh38] Chr10:67829189 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.987C>T (p.Ile329=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583211]|not provided [RCV003418488]|not specified [RCV004057671] |
Chr10:67180377 [GRCh38] Chr10:68940135 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.954A>C (p.Ser318=) |
single nucleotide variant |
not specified [RCV004056897] |
Chr10:67180410 [GRCh38] Chr10:68940168 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1952T>C (p.Ile651Thr) |
single nucleotide variant |
not specified [RCV004061500] |
Chr10:66103182 [GRCh38] Chr10:67862940 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.92T>A (p.Ile31Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002471847] |
Chr10:67647422 [GRCh38] Chr10:69407180 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.186G>T (p.Val62=) |
single nucleotide variant |
not specified [RCV004060102] |
Chr10:67606963 [GRCh38] Chr10:69366721 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1815A>G (p.Gln605=) |
single nucleotide variant |
not specified [RCV004059343] |
Chr10:66280539 [GRCh38] Chr10:68040297 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.573T>C (p.Arg191=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583206]|not specified [RCV004053777] |
Chr10:67521848 [GRCh38] Chr10:69281606 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.792C>T (p.Thr264=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583209]|not specified [RCV004054788] |
Chr10:67219658 [GRCh38] Chr10:68979416 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1173T>C (p.Asp391=) |
single nucleotide variant |
not specified [RCV004050616] |
Chr10:66766372 [GRCh38] Chr10:68526130 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.639G>C (p.Glu213Asp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002471351] |
Chr10:67219811 [GRCh38] Chr10:68979569 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2392A>G (p.Met798Val) |
single nucleotide variant |
not specified [RCV004330648] |
Chr10:65966620 [GRCh38] Chr10:67726378 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2288A>G (p.Gln763Arg) |
single nucleotide variant |
not specified [RCV004330649] |
Chr10:65966724 [GRCh38] Chr10:67726482 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1538A>G (p.His513Arg) |
single nucleotide variant |
not specified [RCV004330650] |
Chr10:66379346 [GRCh38] Chr10:68139104 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1185T>A (p.Pro395=) |
single nucleotide variant |
not specified [RCV004052178] |
Chr10:66766360 [GRCh38] Chr10:68526118 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2118G>A (p.Lys706=) |
single nucleotide variant |
not specified [RCV004060388] |
Chr10:66069349 [GRCh38] Chr10:67829107 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2125T>G (p.Cys709Gly) |
single nucleotide variant |
not specified [RCV004060424] |
Chr10:66069342 [GRCh38] Chr10:67829100 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2500C>G (p.Arg834Gly) |
single nucleotide variant |
not specified [RCV004062023] |
Chr10:65920518 [GRCh38] Chr10:67680276 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2097C>T (p.Asn699=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583215]|not specified [RCV004060310] |
Chr10:66069370 [GRCh38] Chr10:67829128 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1122C>T (p.Arg374=) |
single nucleotide variant |
not specified [RCV004065361] |
Chr10:66775450 [GRCh38] Chr10:68535208 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2287C>G (p.Gln763Glu) |
single nucleotide variant |
not specified [RCV004062553] |
Chr10:65966725 [GRCh38] Chr10:67726483 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1710T>C (p.Asn570=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003097152]|not specified [RCV004060572] |
Chr10:66379174 [GRCh38] Chr10:68138932 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.874A>T (p.Thr292Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744028]|not specified [RCV004056682] |
Chr10:67180490 [GRCh38] Chr10:68940248 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2421G>A (p.Leu807=) |
single nucleotide variant |
not specified [RCV004063740] |
Chr10:65920597 [GRCh38] Chr10:67680355 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1015C>T (p.Leu339Phe) |
single nucleotide variant |
not specified [RCV004051567] |
Chr10:67180349 [GRCh38] Chr10:68940107 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2302T>C (p.Tyr768His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003101720]|not specified [RCV004062624] |
Chr10:65966710 [GRCh38] Chr10:67726468 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2397A>G (p.Ser799=) |
single nucleotide variant |
not specified [RCV004063395] |
Chr10:65966615 [GRCh38] Chr10:67726373 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1379T>C (p.Ile460Thr) |
single nucleotide variant |
not specified [RCV004058930] |
Chr10:66520769 [GRCh38] Chr10:68280527 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.60A>G (p.Thr20=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003776216]|not specified [RCV004052721] |
Chr10:67647454 [GRCh38] Chr10:69407212 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2493G>T (p.Lys831Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003101885]|not specified [RCV004061991] |
Chr10:65920525 [GRCh38] Chr10:67680283 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1776C>T (p.Ala592=) |
single nucleotide variant |
not specified [RCV004061415] |
Chr10:66280578 [GRCh38] Chr10:68040336 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1150C>T (p.His384Tyr) |
single nucleotide variant |
not specified [RCV004049680] |
Chr10:66766395 [GRCh38] Chr10:68526153 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.955T>C (p.Cys319Arg) |
single nucleotide variant |
not specified [RCV004056917] |
Chr10:67180409 [GRCh38] Chr10:68940167 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.765T>A (p.Ala255=) |
single nucleotide variant |
not specified [RCV004056501] |
Chr10:67219685 [GRCh38] Chr10:68979443 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2334A>G (p.Gln778=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003742829]|not specified [RCV004062718] |
Chr10:65966678 [GRCh38] Chr10:67726436 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1246G>A (p.Ala416Thr) |
single nucleotide variant |
not specified [RCV004056426] |
Chr10:66766299 [GRCh38] Chr10:68526057 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1804G>T (p.Asp602Tyr) |
single nucleotide variant |
not specified [RCV004059285] |
Chr10:66280550 [GRCh38] Chr10:68040308 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.891A>T (p.Arg297=) |
single nucleotide variant |
not specified [RCV004054863] |
Chr10:67180473 [GRCh38] Chr10:68940231 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.732A>G (p.Glu244=) |
single nucleotide variant |
not specified [RCV004055904] |
Chr10:67219718 [GRCh38] Chr10:68979476 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.654G>A (p.Leu218=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743990]|not specified [RCV004054391] |
Chr10:67219796 [GRCh38] Chr10:68979554 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2395T>C (p.Ser799Pro) |
single nucleotide variant |
not specified [RCV004063393] |
Chr10:65966617 [GRCh38] Chr10:67726375 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2299G>A (p.Ala767Thr) |
single nucleotide variant |
not specified [RCV004062600] |
Chr10:65966713 [GRCh38] Chr10:67726471 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.865C>A (p.Leu289Ile) |
single nucleotide variant |
not specified [RCV004056603] |
Chr10:67180499 [GRCh38] Chr10:68940257 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1643C>T (p.Ala548Val) |
single nucleotide variant |
not specified [RCV004058149] |
Chr10:66379241 [GRCh38] Chr10:68138999 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.519C>T (p.Thr173=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743973]|not specified [RCV004051675] |
Chr10:67521902 [GRCh38] Chr10:69281660 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.240T>C (p.Ala80=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003742831]|not provided [RCV003418526]|not specified [RCV004063444] |
Chr10:67606909 [GRCh38] Chr10:69366667 [GRCh37] Chr10:10q21.3 |
benign|likely benign |
NM_013266.4(CTNNA3):c.765T>C (p.Ala255=) |
single nucleotide variant |
not specified [RCV004056502] |
Chr10:67219685 [GRCh38] Chr10:68979443 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2669G>A (p.Arg890Lys) |
single nucleotide variant |
not specified [RCV004063584] |
Chr10:65920349 [GRCh38] Chr10:67680107 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1653C>T (p.Val551=) |
single nucleotide variant |
not specified [RCV004059734] |
Chr10:66379231 [GRCh38] Chr10:68138989 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.475G>C (p.Glu159Gln) |
single nucleotide variant |
not specified [RCV004052080] |
Chr10:67521946 [GRCh38] Chr10:69281704 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1179A>G (p.Thr393=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583203]|not specified [RCV004051409] |
Chr10:66766366 [GRCh38] Chr10:68526124 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.679G>C (p.Glu227Gln) |
single nucleotide variant |
not specified [RCV004052818] |
Chr10:67219771 [GRCh38] Chr10:68979529 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1467T>C (p.His489=) |
single nucleotide variant |
not specified [RCV004057992] |
Chr10:66520681 [GRCh38] Chr10:68280439 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2382A>G (p.Gly794=) |
single nucleotide variant |
not specified [RCV004063360] |
Chr10:65966630 [GRCh38] Chr10:67726388 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2357A>G (p.Lys786Arg) |
single nucleotide variant |
not specified [RCV004063272] |
Chr10:65966655 [GRCh38] Chr10:67726413 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.233A>G (p.Gln78Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002298038] |
Chr10:67606916 [GRCh38] Chr10:69366674 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2439T>C (p.Asn813=) |
single nucleotide variant |
not specified [RCV004063812] |
Chr10:65920579 [GRCh38] Chr10:67680337 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1390C>G (p.Leu464Val) |
single nucleotide variant |
not specified [RCV004057086] |
Chr10:66520758 [GRCh38] Chr10:68280516 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1642G>T (p.Ala548Ser) |
single nucleotide variant |
not specified [RCV004058146] |
Chr10:66379242 [GRCh38] Chr10:68139000 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1299T>C (p.Cys433=) |
single nucleotide variant |
not specified [RCV004058234] |
Chr10:66621767 [GRCh38] Chr10:68381525 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2452G>A (p.Val818Ile) |
single nucleotide variant |
not specified [RCV004063875] |
Chr10:65920566 [GRCh38] Chr10:67680324 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1422G>T (p.Ala474=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003095136]|not specified [RCV004057246] |
Chr10:66520726 [GRCh38] Chr10:68280484 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1787G>C (p.Ser596Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002299567] |
Chr10:66280567 [GRCh38] Chr10:68040325 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2557C>A (p.Pro853Thr) |
single nucleotide variant |
not specified [RCV004062206] |
Chr10:65920461 [GRCh38] Chr10:67680219 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1682G>A (p.Gly561Glu) |
single nucleotide variant |
not specified [RCV004059882] |
Chr10:66379202 [GRCh38] Chr10:68138960 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1650C>T (p.Ile550=) |
single nucleotide variant |
not specified [RCV004059721] |
Chr10:66379234 [GRCh38] Chr10:68138992 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1245T>C (p.Ala415=) |
single nucleotide variant |
not specified [RCV004056383] |
Chr10:66766300 [GRCh38] Chr10:68526058 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.890G>A (p.Arg297Gln) |
single nucleotide variant |
not specified [RCV004054860] |
Chr10:67180474 [GRCh38] Chr10:68940232 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2497A>G (p.Ile833Val) |
single nucleotide variant |
not specified [RCV004061999] |
Chr10:65920521 [GRCh38] Chr10:67680279 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.850A>G (p.Ile284Val) |
single nucleotide variant |
not specified [RCV004056207] |
Chr10:67180514 [GRCh38] Chr10:68940272 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1866T>C (p.Cys622=) |
single nucleotide variant |
not specified [RCV004060084] |
Chr10:66280488 [GRCh38] Chr10:68040246 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.782A>G (p.Asn261Ser) |
single nucleotide variant |
not specified [RCV004054715] |
Chr10:67219668 [GRCh38] Chr10:68979426 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2232G>A (p.Arg744=) |
single nucleotide variant |
not specified [RCV004061842] |
Chr10:65988725 [GRCh38] Chr10:67748483 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.693T>G (p.Val231=) |
single nucleotide variant |
not specified [RCV004052984] |
Chr10:67219757 [GRCh38] Chr10:68979515 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1007G>T (p.Arg336Leu) |
single nucleotide variant |
not specified [RCV004061859] |
Chr10:67180357 [GRCh38] Chr10:68940115 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2380G>A (p.Gly794Arg) |
single nucleotide variant |
not specified [RCV004063358] |
Chr10:65966632 [GRCh38] Chr10:67726390 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.749A>G (p.Asn250Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003099657]|not specified [RCV004056335] |
Chr10:67219701 [GRCh38] Chr10:68979459 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.869C>T (p.Thr290Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744026]|not specified [RCV004056638] |
Chr10:67180495 [GRCh38] Chr10:68940253 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1455A>C (p.Thr485=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583212]|not specified [RCV004057927] |
Chr10:66520693 [GRCh38] Chr10:68280451 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1172A>G (p.Asp391Gly) |
single nucleotide variant |
not specified [RCV004050024] |
Chr10:66766373 [GRCh38] Chr10:68526131 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1831A>G (p.Lys611Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583214]|not specified [RCV004059424] |
Chr10:66280523 [GRCh38] Chr10:68040281 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.477G>A (p.Glu159=) |
single nucleotide variant |
not specified [RCV004052116] |
Chr10:67521944 [GRCh38] Chr10:69281702 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1851T>G (p.Ile617Met) |
single nucleotide variant |
not specified [RCV004060030] |
Chr10:66280503 [GRCh38] Chr10:68040261 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2162G>A (p.Gly721Asp) |
single nucleotide variant |
not specified [RCV004061079] |
Chr10:65988795 [GRCh38] Chr10:67748553 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.34G>T (p.Asp12Tyr) |
single nucleotide variant |
not specified [RCV004048673] |
Chr10:67647480 [GRCh38] Chr10:69407238 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1568T>C (p.Ile523Thr) |
single nucleotide variant |
not specified [RCV004059171] |
Chr10:66379316 [GRCh38] Chr10:68139074 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.6A>T (p.Ser2=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744000]|not specified [RCV004055122] |
Chr10:67647508 [GRCh38] Chr10:69407266 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2600C>T (p.Thr867Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583216]|not specified [RCV004062897] |
Chr10:65920418 [GRCh38] Chr10:67680176 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.908G>A (p.Arg303His) |
single nucleotide variant |
not specified [RCV004054983] |
Chr10:67180456 [GRCh38] Chr10:68940214 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1361C>G (p.Thr454Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002303249] |
Chr10:66621705 [GRCh38] Chr10:68381463 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1393G>C (p.Ala465Pro) |
single nucleotide variant |
not specified [RCV004057099] |
Chr10:66520755 [GRCh38] Chr10:68280513 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.837G>A (p.Glu279=) |
single nucleotide variant |
not specified [RCV004056093] |
Chr10:67219613 [GRCh38] Chr10:68979371 [GRCh37] Chr10:10q21.3 |
likely benign |
GRCh37/hg19 10q21.3(chr10:67374941-68004975)x3 |
copy number gain |
not provided [RCV002475805] |
Chr10:67374941..68004975 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1524T>A (p.Ala508=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003095685] |
Chr10:66520624 [GRCh38] Chr10:68280382 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2654T>C (p.Val885Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002731483] |
Chr10:65920364 [GRCh38] Chr10:67680122 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1135A>C (p.Lys379Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002839424] |
Chr10:66766410 [GRCh38] Chr10:68526168 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1675G>A (p.Glu559Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003074209]|not specified [RCV004070381] |
Chr10:66379209 [GRCh38] Chr10:68138967 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1374+9A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002995953] |
Chr10:66621683 [GRCh38] Chr10:68381441 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.263C>T (p.Thr88Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003076583]|not specified [RCV004070294] |
Chr10:67606886 [GRCh38] Chr10:69366644 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2345G>A (p.Cys782Tyr) |
single nucleotide variant |
not specified [RCV004149538] |
Chr10:65966667 [GRCh38] Chr10:67726425 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1900G>T (p.Glu634Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002843900] |
Chr10:66103234 [GRCh38] Chr10:67862992 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1972G>A (p.Asp658Asn) |
single nucleotide variant |
not specified [RCV004204206] |
Chr10:66103162 [GRCh38] Chr10:67862920 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.292+19G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002903622] |
Chr10:67606838 [GRCh38] Chr10:69366596 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1144A>G (p.Ile382Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002972170] |
Chr10:66766401 [GRCh38] Chr10:68526159 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1187C>T (p.Pro396Leu) |
single nucleotide variant |
not specified [RCV004098862] |
Chr10:66928103 [GRCh38] Chr10:68687861 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1757T>G (p.Val586Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003012474]|not specified [RCV004068565] |
Chr10:66280597 [GRCh38] Chr10:68040355 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1655C>G (p.Thr552Arg) |
single nucleotide variant |
not specified [RCV004192286] |
Chr10:66379229 [GRCh38] Chr10:68138987 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2585A>G (p.Glu862Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003015694] |
Chr10:65920433 [GRCh38] Chr10:67680191 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.436C>T (p.His146Tyr) |
single nucleotide variant |
not specified [RCV004216505] |
Chr10:66927352 [GRCh38] Chr10:68687110 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1178C>A (p.Thr393Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002908877] |
Chr10:66766367 [GRCh38] Chr10:68526125 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.150A>G (p.Gly50=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002751502] |
Chr10:67606999 [GRCh38] Chr10:69366757 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.617G>A (p.Gly206Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003018776] |
Chr10:67219833 [GRCh38] Chr10:68979591 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1128+16G>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002640381] |
Chr10:66775428 [GRCh38] Chr10:68535186 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1977+12C>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002953523] |
Chr10:66103145 [GRCh38] Chr10:67862903 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1171G>A (p.Asp391Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002761046] |
Chr10:66766374 [GRCh38] Chr10:68526132 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2071A>G (p.Ile691Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002800246]|not specified [RCV004064694] |
Chr10:66069396 [GRCh38] Chr10:67829154 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2199T>C (p.Tyr733=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002637990] |
Chr10:65988758 [GRCh38] Chr10:67748516 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2415A>G (p.Thr805=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002912518] |
Chr10:65920603 [GRCh38] Chr10:67680361 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1128+14G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003078309] |
Chr10:66775430 [GRCh38] Chr10:68535188 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.245T>G (p.Val82Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003036087] |
Chr10:67606904 [GRCh38] Chr10:69366662 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2401-18T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002912976] |
Chr10:65920635 [GRCh38] Chr10:67680393 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.254A>G (p.Asp85Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002695457] |
Chr10:67606895 [GRCh38] Chr10:69366653 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1531+1G>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003002033] |
Chr10:66520616 [GRCh38] Chr10:68280374 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.619G>T (p.Ala207Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003077131] |
Chr10:67219831 [GRCh38] Chr10:68979589 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.292A>G (p.Ser98Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002824825] |
Chr10:67606857 [GRCh38] Chr10:69366615 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1307C>T (p.Ser436Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003020117] |
Chr10:66621759 [GRCh38] Chr10:68381517 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.811G>A (p.Ala271Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002639761] |
Chr10:67219639 [GRCh38] Chr10:68979397 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.482_483del (p.Leu161fs) |
microsatellite |
Arrhythmogenic right ventricular dysplasia 13 [RCV002866845] |
Chr10:67521938..67521939 [GRCh38] Chr10:69281696..69281697 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.579G>A (p.Gln193=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002876317] |
Chr10:67521842 [GRCh38] Chr10:69281600 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.383C>T (p.Thr128Ile) |
single nucleotide variant |
not specified [RCV004134396] |
Chr10:66927299 [GRCh38] Chr10:68687057 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2322C>G (p.Phe774Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002959029] |
Chr10:65966690 [GRCh38] Chr10:67726448 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2283T>C (p.Cys761=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003085601] |
Chr10:65966729 [GRCh38] Chr10:67726487 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1748T>C (p.Val583Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003084473] |
Chr10:66280606 [GRCh38] Chr10:68040364 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1560G>A (p.Lys520=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003082597] |
Chr10:66379324 [GRCh38] Chr10:68139082 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1646A>T (p.His549Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003005502] |
Chr10:66379238 [GRCh38] Chr10:68138996 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1884+20C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002572198] |
Chr10:66280450 [GRCh38] Chr10:68040208 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1581C>A (p.Asp527Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003082594] |
Chr10:66379303 [GRCh38] Chr10:68139061 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1324A>G (p.Ile442Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003083378]|not specified [RCV004071652] |
Chr10:66621742 [GRCh38] Chr10:68381500 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1291C>G (p.Leu431Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003040210] |
Chr10:66621775 [GRCh38] Chr10:68381533 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2650C>A (p.Gln884Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002711421] |
Chr10:65920368 [GRCh38] Chr10:67680126 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1775C>G (p.Ala592Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002624524] |
Chr10:66280579 [GRCh38] Chr10:68040337 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2372A>G (p.Asn791Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002932954] |
Chr10:65966640 [GRCh38] Chr10:67726398 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1178C>T (p.Pro393Leu) |
single nucleotide variant |
not specified [RCV004152849] |
Chr10:66928094 [GRCh38] Chr10:68687852 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1114G>A (p.Asp372Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002597073] |
Chr10:66775458 [GRCh38] Chr10:68535216 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.668C>T (p.Ala223Val) |
single nucleotide variant |
not specified [RCV004178678] |
Chr10:66927584 [GRCh38] Chr10:68687342 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.944C>T (p.Ala315Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003084418] |
Chr10:67180420 [GRCh38] Chr10:68940178 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2184A>G (p.Thr728=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003083897] |
Chr10:65988773 [GRCh38] Chr10:67748531 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.602G>A (p.Arg201Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002667440]|not specified [RCV004066802] |
Chr10:67219848 [GRCh38] Chr10:68979606 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1620C>T (p.Ile540=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002574768] |
Chr10:66379264 [GRCh38] Chr10:68139022 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2282G>T (p.Cys761Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002917835] |
Chr10:65966730 [GRCh38] Chr10:67726488 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.292+19G>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002623338] |
Chr10:67606838 [GRCh38] Chr10:69366596 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2410G>A (p.Val804Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002575074] |
Chr10:65920608 [GRCh38] Chr10:67680366 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.979C>T (p.Arg327Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002962867] |
Chr10:67180385 [GRCh38] Chr10:68940143 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1441A>T (p.Met481Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003031651] |
Chr10:66520707 [GRCh38] Chr10:68280465 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1733-3C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002900115] |
Chr10:66280624 [GRCh38] Chr10:68040382 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1115A>G (p.Asp372Gly) |
single nucleotide variant |
not specified [RCV004092942] |
Chr10:66775457 [GRCh38] Chr10:68535215 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.844-6T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002602722] |
Chr10:67180526 [GRCh38] Chr10:68940284 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1558A>C (p.Lys520Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003060559] |
Chr10:66379326 [GRCh38] Chr10:68139084 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.336_337del (p.Cys113fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003086879] |
Chr10:67539625..67539626 [GRCh38] Chr10:69299383..69299384 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.284G>A (p.Arg95His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002627715]|not provided [RCV004697233] |
Chr10:67606865 [GRCh38] Chr10:69366623 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1273G>A (p.Val425Met) |
single nucleotide variant |
not specified [RCV004153361] |
Chr10:66928189 [GRCh38] Chr10:68687947 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1374+14G>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002647677] |
Chr10:66621678 [GRCh38] Chr10:68381436 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2618G>A (p.Arg873Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002647708] |
Chr10:65920400 [GRCh38] Chr10:67680158 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1222G>A (p.Glu408Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002922009]|not specified [RCV004066290] |
Chr10:66766323 [GRCh38] Chr10:68526081 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1047+3A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002856665] |
Chr10:67180314 [GRCh38] Chr10:68940072 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.572G>A (p.Arg191His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002629065] |
Chr10:67521849 [GRCh38] Chr10:69281607 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.845G>T (p.Arg282Leu) |
single nucleotide variant |
not specified [RCV004221407] |
Chr10:66927761 [GRCh38] Chr10:68687519 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1670G>A (p.Ser557Asn) |
single nucleotide variant |
not specified [RCV004220531] |
Chr10:66379214 [GRCh38] Chr10:68138972 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1732+6T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002715483] |
Chr10:66379146 [GRCh38] Chr10:68138904 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.988G>A (p.Ala330Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002962975] |
Chr10:67180376 [GRCh38] Chr10:68940134 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.777C>A (p.Ile259=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003031188] |
Chr10:67219673 [GRCh38] Chr10:68979431 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_178011.5(LRRTM3):c.1250T>C (p.Phe417Ser) |
single nucleotide variant |
not specified [RCV004087638] |
Chr10:66928166 [GRCh38] Chr10:68687924 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1461G>T (p.Glu487Asp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002812162] |
Chr10:66520687 [GRCh38] Chr10:68280445 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.580-20del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003048256] |
Chr10:67219890 [GRCh38] Chr10:68979648 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1953T>C (p.Ile651=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003048270] |
Chr10:66103181 [GRCh38] Chr10:67862939 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1859T>A (p.Ile620Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002632685] |
Chr10:66280495 [GRCh38] Chr10:68040253 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.611T>C (p.Ile204Thr) |
single nucleotide variant |
not specified [RCV004135244] |
Chr10:67219839 [GRCh38] Chr10:68979597 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.6A>G (p.Ser2=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003069087]|not specified [RCV004071762] |
Chr10:67647508 [GRCh38] Chr10:69407266 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1012G>C (p.Ala338Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003050996] |
Chr10:67180352 [GRCh38] Chr10:68940110 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1577G>A (p.Arg526Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003049830]|not specified [RCV004068739] |
Chr10:66379307 [GRCh38] Chr10:68139065 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1978-17A>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002943012] |
Chr10:66069506 [GRCh38] Chr10:67829264 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.649C>G (p.Leu217Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003069532] |
Chr10:67219801 [GRCh38] Chr10:68979559 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.577_579+11dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV003093392] |
Chr10:67521830..67521831 [GRCh38] Chr10:69281588..69281589 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1885-19T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003092902] |
Chr10:66103268 [GRCh38] Chr10:67863026 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2472G>A (p.Met824Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003092436]|not specified [RCV004073080] |
Chr10:65920546 [GRCh38] Chr10:67680304 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1525G>A (p.Val509Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003070325] |
Chr10:66520623 [GRCh38] Chr10:68280381 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1152T>C (p.His384=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002814500] |
Chr10:66766393 [GRCh38] Chr10:68526151 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1431C>A (p.Asn477Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002610129] |
Chr10:66520717 [GRCh38] Chr10:68280475 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1489G>A (p.Val497Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003051162]|not specified [RCV004070284] |
Chr10:66520659 [GRCh38] Chr10:68280417 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2584G>A (p.Glu862Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003072042] |
Chr10:65920434 [GRCh38] Chr10:67680192 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1924G>T (p.Glu642Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003052114] |
Chr10:66103210 [GRCh38] Chr10:67862968 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2563A>C (p.Lys855Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002603668] |
Chr10:65920455 [GRCh38] Chr10:67680213 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1523C>A (p.Ala508Asp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002588407]|not specified [RCV004068826] |
Chr10:66520625 [GRCh38] Chr10:68280383 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.187G>C (p.Glu63Gln) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003050997] |
Chr10:67606962 [GRCh38] Chr10:69366720 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2386C>T (p.Leu796Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003071803]|not specified [RCV004071649] |
Chr10:65966626 [GRCh38] Chr10:67726384 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1386T>G (p.Ala462=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV002657985] |
Chr10:66520762 [GRCh38] Chr10:68280520 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1959C>A (p.Thr653=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003052151] |
Chr10:66103175 [GRCh38] Chr10:67862933 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1944C>T (p.His648=) |
single nucleotide variant |
not specified [RCV004330643] |
Chr10:66103190 [GRCh38] Chr10:67862948 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1143T>C (p.Ile381=) |
single nucleotide variant |
not specified [RCV004243434] |
Chr10:66766402 [GRCh38] Chr10:68526160 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.166A>C (p.Ser56Arg) |
single nucleotide variant |
not specified [RCV004243435] |
Chr10:67606983 [GRCh38] Chr10:69366741 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.189G>A (p.Glu63=) |
single nucleotide variant |
not specified [RCV004243436] |
Chr10:67606960 [GRCh38] Chr10:69366718 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.367C>G (p.Gln123Glu) |
single nucleotide variant |
not specified [RCV004243440] |
Chr10:67539595 [GRCh38] Chr10:69299353 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1449G>A (p.Lys483=) |
single nucleotide variant |
not specified [RCV004243443] |
Chr10:66520699 [GRCh38] Chr10:68280457 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1561T>G (p.Cys521Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003145906] |
Chr10:66379323 [GRCh38] Chr10:68139081 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1496A>C (p.Asp499Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003145909] |
Chr10:66520652 [GRCh38] Chr10:68280410 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.888A>G (p.Ile296Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745563]|not specified [RCV004269640] |
Chr10:67180476 [GRCh38] Chr10:68940234 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1423G>T (p.Val475Phe) |
single nucleotide variant |
not specified [RCV004243439] |
Chr10:66520725 [GRCh38] Chr10:68280483 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1021G>T (p.Asp341Tyr) |
single nucleotide variant |
not specified [RCV004243441] |
Chr10:67180343 [GRCh38] Chr10:68940101 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2344T>C (p.Cys782Arg) |
single nucleotide variant |
not specified [RCV004243442] |
Chr10:65966668 [GRCh38] Chr10:67726426 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.166C>A (p.Pro56Thr) |
single nucleotide variant |
not specified [RCV004277615] |
Chr10:66927082 [GRCh38] Chr10:68686840 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1321G>A (p.Gly441Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003145908] |
Chr10:66621745 [GRCh38] Chr10:68381503 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1244C>T (p.Ala415Val) |
single nucleotide variant |
not specified [RCV004285558] |
Chr10:66766301 [GRCh38] Chr10:68526059 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1700T>C (p.Val567Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745564]|not specified [RCV004285559] |
Chr10:66379184 [GRCh38] Chr10:68138942 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1009_1015del (p.Gln337fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003228625] |
Chr10:67180349..67180355 [GRCh38] Chr10:68940107..68940113 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1658C>T (p.Thr553Met) |
single nucleotide variant |
not specified [RCV004321915] |
Chr10:67097708 [GRCh38] Chr10:68857466 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1201G>T (p.Ala401Ser) |
single nucleotide variant |
not specified [RCV004258058] |
Chr10:66928117 [GRCh38] Chr10:68687875 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.91A>G (p.Ile31Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003228634] |
Chr10:67647423 [GRCh38] Chr10:69407181 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2648T>G (p.Leu883Trp) |
single nucleotide variant |
not specified [RCV004243437] |
Chr10:65920370 [GRCh38] Chr10:67680128 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.78A>G (p.Leu26=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003779000]|not specified [RCV004243438] |
Chr10:67647436 [GRCh38] Chr10:69407194 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.466A>G (p.Arg156Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003145907] |
Chr10:67521955 [GRCh38] Chr10:69281713 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37] Chr10:10p14-q26.3 |
pathogenic |
NM_013266.4(CTNNA3):c.660A>G (p.Ser220=) |
single nucleotide variant |
not specified [RCV003324164] |
Chr10:67219790 [GRCh38] Chr10:68979548 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1304T>C (p.Met435Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583223]|not specified [RCV004328229] |
Chr10:66621762 [GRCh38] Chr10:68381520 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.802C>G (p.Pro268Ala) |
single nucleotide variant |
not specified [RCV004328231] |
Chr10:67219648 [GRCh38] Chr10:68979406 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1116C>G (p.Asp372Glu) |
single nucleotide variant |
not specified [RCV004328232] |
Chr10:66775456 [GRCh38] Chr10:68535214 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1001C>T (p.Ala334Val) |
single nucleotide variant |
not specified [RCV004330644] |
Chr10:67180363 [GRCh38] Chr10:68940121 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37] Chr10:10p13-q26.3 |
pathogenic |
NM_013266.4(CTNNA3):c.2340A>C (p.Lys780Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003330246] |
Chr10:65966672 [GRCh38] Chr10:67726430 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2159+2T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003334464] |
Chr10:66069306 [GRCh38] Chr10:67829064 [GRCh37] Chr10:10q21.3 |
likely pathogenic |
NM_013266.4(CTNNA3):c.464A>G (p.Gln155Arg) |
single nucleotide variant |
not specified [RCV004360594] |
Chr10:67521957 [GRCh38] Chr10:69281715 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.141G>A (p.Arg47=) |
single nucleotide variant |
not specified [RCV004362730] |
Chr10:67607008 [GRCh38] Chr10:69366766 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1596T>G (p.Asn532Lys) |
single nucleotide variant |
not specified [RCV004362729] |
Chr10:66379288 [GRCh38] Chr10:68139046 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.872T>C (p.Val291Ala) |
single nucleotide variant |
not specified [RCV004362728] |
Chr10:67180492 [GRCh38] Chr10:68940250 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1528G>A (p.Glu510Lys) |
single nucleotide variant |
not specified [RCV004362349] |
Chr10:66928444 [GRCh38] Chr10:68688202 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2400+5G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003448801] |
Chr10:65966607 [GRCh38] Chr10:67726365 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2498T>G (p.Ile833Ser) |
single nucleotide variant |
not specified [RCV004364331] |
Chr10:65920520 [GRCh38] Chr10:67680278 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2629A>C (p.Lys877Gln) |
single nucleotide variant |
not specified [RCV004364332] |
Chr10:65920389 [GRCh38] Chr10:67680147 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2099A>G (p.Asp700Gly) |
single nucleotide variant |
not specified [RCV004362727] |
Chr10:66069368 [GRCh38] Chr10:67829126 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2551A>C (p.Lys851Gln) |
single nucleotide variant |
not specified [RCV004362732] |
Chr10:65920467 [GRCh38] Chr10:67680225 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.157A>G (p.Lys53Glu) |
single nucleotide variant |
not specified [RCV004362731] |
Chr10:67606992 [GRCh38] Chr10:69366750 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 |
copy number loss |
not provided [RCV003483092] |
Chr10:51735638..70791246 [GRCh37] Chr10:10q11.23-22.1 |
pathogenic |
NM_013266.4(CTNNA3):c.1910C>T (p.Ser637Phe) |
single nucleotide variant |
CTNNA3-related disorder [RCV003404474] |
Chr10:66103224 [GRCh38] Chr10:67862982 [GRCh37] Chr10:10q21.3 |
uncertain significance |
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 |
copy number gain |
not provided [RCV003484798] |
Chr10:42709645..100834951 [GRCh37] Chr10:10q11.21-24.2 |
pathogenic |
GRCh37/hg19 10q21.3(chr10:68506202-68744348)x1 |
copy number loss |
not provided [RCV003483097] |
Chr10:68506202..68744348 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4:c.1282-780_1531+54046del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003448558] |
|
uncertain significance |
NM_013266.4(CTNNA3):c.2248C>G (p.Arg750Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745595]|CTNNA3-related disorder [RCV003406264] |
Chr10:65988709 [GRCh38] Chr10:67748467 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2265+2T>G |
single nucleotide variant |
not provided [RCV003417427] |
Chr10:65988690 [GRCh38] Chr10:67748448 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1903G>T (p.Asp635Tyr) |
single nucleotide variant |
not provided [RCV003417428] |
Chr10:66103231 [GRCh38] Chr10:67862989 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1048-7T>C |
single nucleotide variant |
not provided [RCV003417429] |
Chr10:66775531 [GRCh38] Chr10:68535289 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.722T>C (p.Val241Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745597]|not provided [RCV003417430] |
Chr10:67219728 [GRCh38] Chr10:68979486 [GRCh37] Chr10:10q21.3 |
likely benign|uncertain significance |
NM_013266.4(CTNNA3):c.580-59152G>A |
single nucleotide variant |
not provided [RCV003417431] |
Chr10:67279022 [GRCh38] Chr10:69038780 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.509T>C (p.Leu170Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003876149] |
Chr10:67521912 [GRCh38] Chr10:69281670 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1977+9C>T |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745089] |
Chr10:66103148 [GRCh38] Chr10:67862906 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.174_176del (p.Leu59del) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745099] |
Chr10:67606973..67606975 [GRCh38] Chr10:69366731..69366733 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1374+10C>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745192] |
Chr10:66621682 [GRCh38] Chr10:68381440 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.293-20T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745253] |
Chr10:67539689 [GRCh38] Chr10:69299447 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1498A>T (p.Ile500Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003812052]|not specified [RCV004614534] |
Chr10:66520650 [GRCh38] Chr10:68280408 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.844-17A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003832889] |
Chr10:67180537 [GRCh38] Chr10:68940295 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.16C>T (p.Pro6Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745199] |
Chr10:67647498 [GRCh38] Chr10:69407256 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2530C>A (p.Pro844Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743273] |
Chr10:65920488 [GRCh38] Chr10:67680246 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.563C>T (p.Ala188Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743416] |
Chr10:67521858 [GRCh38] Chr10:69281616 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1299T>G (p.Cys433Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745247] |
Chr10:66621767 [GRCh38] Chr10:68381525 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1281+14A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743442] |
Chr10:66766250 [GRCh38] Chr10:68526008 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.276G>C (p.Glu92Asp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745715] |
Chr10:67606873 [GRCh38] Chr10:69366631 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1612G>T (p.Gly538Cys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743454] |
Chr10:66379272 [GRCh38] Chr10:68139030 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1345G>A (p.Ala449Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003850621] |
Chr10:66621721 [GRCh38] Chr10:68381479 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1556A>C (p.Asn519Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583260] |
Chr10:66379328 [GRCh38] Chr10:68139086 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1703T>A (p.Met568Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744112] |
Chr10:66379181 [GRCh38] Chr10:68138939 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1469T>C (p.Ile490Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003850798]|not specified [RCV004614553] |
Chr10:66520679 [GRCh38] Chr10:68280437 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.388G>C (p.Ala130Pro) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744479] |
Chr10:67539574 [GRCh38] Chr10:69299332 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1903G>A (p.Asp635Asn) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745030] |
Chr10:66103231 [GRCh38] Chr10:67862989 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.459+17_459+31del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745073] |
Chr10:67539472..67539486 [GRCh38] Chr10:69299230..69299244 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.324del (p.Phe108fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745108] |
Chr10:67539638 [GRCh38] Chr10:69299396 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1531+5G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743428] |
Chr10:66520612 [GRCh38] Chr10:68280370 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1048G>A (p.Ala350Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743451] |
Chr10:66775524 [GRCh38] Chr10:68535282 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1549G>C (p.Asp517His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743450] |
Chr10:66379335 [GRCh38] Chr10:68139093 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1368T>G (p.Cys456Trp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003856298] |
Chr10:66621698 [GRCh38] Chr10:68381456 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1101T>A (p.Cys367Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583375] |
Chr10:66775471 [GRCh38] Chr10:68535229 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2409T>C (p.Ser803=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583499] |
Chr10:65920609 [GRCh38] Chr10:67680367 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.951T>C (p.Ser317=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583538] |
Chr10:67180413 [GRCh38] Chr10:68940171 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2564A>G (p.Lys855Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744528] |
Chr10:65920454 [GRCh38] Chr10:67680212 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2378GAG[1] (p.Gly794del) |
microsatellite |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583815] |
Chr10:65966629..65966631 [GRCh38] Chr10:67726387..67726389 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.580-16T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583926] |
Chr10:67219886 [GRCh38] Chr10:68979644 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.844-14T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583951] |
Chr10:67180534 [GRCh38] Chr10:68940292 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2478C>T (p.Tyr826=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583608]|not specified [RCV004369257] |
Chr10:65920540 [GRCh38] Chr10:67680298 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1775C>A (p.Ala592Asp) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583617] |
Chr10:66280579 [GRCh38] Chr10:68040337 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2642A>G (p.His881Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003852602] |
Chr10:65920376 [GRCh38] Chr10:67680134 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1095C>T (p.Asn365=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583666] |
Chr10:66775477 [GRCh38] Chr10:68535235 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.510C>A (p.Leu170=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744057] |
Chr10:67521911 [GRCh38] Chr10:69281669 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.25T>G (p.Leu9Val) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583734] |
Chr10:67647489 [GRCh38] Chr10:69407247 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1242T>C (p.Tyr414=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583747] |
Chr10:66766303 [GRCh38] Chr10:68526061 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.216G>A (p.Lys72=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744209] |
Chr10:67606933 [GRCh38] Chr10:69366691 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.721G>C (p.Val241Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583789] |
Chr10:67219729 [GRCh38] Chr10:68979487 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.758C>A (p.Ser253Ter) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744361] |
Chr10:67219692 [GRCh38] Chr10:68979450 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.284G>T (p.Arg95Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583826] |
Chr10:67606865 [GRCh38] Chr10:69366623 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1191G>T (p.Leu397Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583402] |
Chr10:66766354 [GRCh38] Chr10:68526112 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2053A>C (p.Ser685Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583861] |
Chr10:66069414 [GRCh38] Chr10:67829172 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.460-4T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583416] |
Chr10:67521965 [GRCh38] Chr10:69281723 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2400+13T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003852155] |
Chr10:65966599 [GRCh38] Chr10:67726357 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1885-7T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583437] |
Chr10:66103256 [GRCh38] Chr10:67863014 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2347A>G (p.Ser783Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583456]|not specified [RCV004369127] |
Chr10:65966665 [GRCh38] Chr10:67726423 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.461T>C (p.Phe154Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745109]|not specified [RCV004614510] |
Chr10:67521960 [GRCh38] Chr10:69281718 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.225G>A (p.Lys75=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745182] |
Chr10:67606924 [GRCh38] Chr10:69366682 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.665G>T (p.Cys222Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745218] |
Chr10:67219785 [GRCh38] Chr10:68979543 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.100-1G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745223] |
Chr10:67607050 [GRCh38] Chr10:69366808 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2248C>A (p.Arg750=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583517]|not specified [RCV004614462] |
Chr10:65988709 [GRCh38] Chr10:67748467 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.364G>T (p.Val122Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583529] |
Chr10:67539598 [GRCh38] Chr10:69299356 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1128+8A>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745258] |
Chr10:66775436 [GRCh38] Chr10:68535194 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1373A>G (p.Gln458Arg) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745642] |
Chr10:66621693 [GRCh38] Chr10:68381451 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1885-11T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583569] |
Chr10:66103260 [GRCh38] Chr10:67863018 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1145T>C (p.Ile382Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583519] |
Chr10:66766400 [GRCh38] Chr10:68526158 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2248del (p.Arg750fs) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744164] |
Chr10:65988709 [GRCh38] Chr10:67748467 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2202_2203delinsCA (p.Ala735Thr) |
indel |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744202] |
Chr10:65988754..65988755 [GRCh38] Chr10:67748512..67748513 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2400+18C>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583604] |
Chr10:65966594 [GRCh38] Chr10:67726352 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1048-12dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583613] |
Chr10:66775535..66775536 [GRCh38] Chr10:68535293..68535294 [GRCh37] Chr10:10q21.3 |
benign |
NM_013266.4(CTNNA3):c.1129-18T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003855453] |
Chr10:66766434 [GRCh38] Chr10:68526192 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.802C>T (p.Pro268Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003838575] |
Chr10:67219648 [GRCh38] Chr10:68979406 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1374+12_1374+13del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003744316] |
Chr10:66621679..66621680 [GRCh38] Chr10:68381437..68381438 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2567A>C (p.Lys856Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583678] |
Chr10:65920451 [GRCh38] Chr10:67680209 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.662T>C (p.Ile221Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583576] |
Chr10:67219788 [GRCh38] Chr10:68979546 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1401T>A (p.Ala467=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583239] |
Chr10:66520747 [GRCh38] Chr10:68280505 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1732+20C>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583243] |
Chr10:66379132 [GRCh38] Chr10:68138890 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2554G>A (p.Ala852Thr) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583302] |
Chr10:65920464 [GRCh38] Chr10:67680222 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.459+19A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745831] |
Chr10:67539484 [GRCh38] Chr10:69299242 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1577_1586dup (p.Asp529fs) |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583271] |
Chr10:66379297..66379298 [GRCh38] Chr10:68139055..68139056 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1971T>A (p.Thr657=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745102]|not specified [RCV004374209] |
Chr10:66103163 [GRCh38] Chr10:67862921 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1444T>C (p.Tyr482His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583886] |
Chr10:66520704 [GRCh38] Chr10:68280462 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1732+16A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745234] |
Chr10:66379136 [GRCh38] Chr10:68138894 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2354T>C (p.Val785Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583415] |
Chr10:65966658 [GRCh38] Chr10:67726416 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.134_135del (p.Pro44_Ser45insTer) |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583968] |
Chr10:67607014..67607015 [GRCh38] Chr10:69366772..69366773 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1129-11T>C |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003834457] |
Chr10:66766427 [GRCh38] Chr10:68526185 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1282-4T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745705] |
Chr10:66621788 [GRCh38] Chr10:68381546 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.59C>T (p.Thr20Ile) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583475] |
Chr10:67647455 [GRCh38] Chr10:69407213 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.469A>G (p.Thr157Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583493] |
Chr10:67521952 [GRCh38] Chr10:69281710 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1107_1108delinsAC (p.Thr370Pro) |
indel |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583957] |
Chr10:66775464..66775465 [GRCh38] Chr10:68535222..68535223 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.416C>A (p.Ala139Glu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583537] |
Chr10:67539546 [GRCh38] Chr10:69299304 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.459+8A>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003743526] |
Chr10:67539495 [GRCh38] Chr10:69299253 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2097C>G (p.Asn699Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003583551] |
Chr10:66069370 [GRCh38] Chr10:67829128 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.730G>A (p.Glu244Lys) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745063] |
Chr10:67219720 [GRCh38] Chr10:68979478 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.947A>G (p.Asp316Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003846543]|not specified [RCV004614547] |
Chr10:67180417 [GRCh38] Chr10:68940175 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1977+1G>A |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003860978] |
Chr10:66103156 [GRCh38] Chr10:67862914 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1501A>G (p.Thr501Ala) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003867317] |
Chr10:66520647 [GRCh38] Chr10:68280405 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1885-12T>G |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003868997] |
Chr10:66103261 [GRCh38] Chr10:67863019 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.914A>G (p.Glu305Gly) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745905] |
Chr10:67180450 [GRCh38] Chr10:68940208 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.152G>A (p.Arg51His) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745931]|not specified [RCV004371625] |
Chr10:67606997 [GRCh38] Chr10:69366755 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1624G>A (p.Gly542Ser) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003745940] |
Chr10:66379260 [GRCh38] Chr10:68139018 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.243A>C (p.Thr81=) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003858119] |
Chr10:67606906 [GRCh38] Chr10:69366664 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2665T>C (p.Phe889Leu) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003863358] |
Chr10:65920353 [GRCh38] Chr10:67680111 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1191G>C (p.Leu397Phe) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 13 [RCV003846019] |
Chr10:66766354 [GRCh38] Chr10:68526112 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.586A>G (p.Lys196Glu) |
single nucleotide variant |
not specified [RCV004374926] |
Chr10:67219864 [GRCh38] Chr10:68979622 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.130C>T (p.Pro44Ser) |
single nucleotide variant |
not specified [RCV004519461] |
Chr10:67607019 [GRCh38] Chr10:69366777 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1489G>T (p.Val497Leu) |
single nucleotide variant |
not specified [RCV004519462] |
Chr10:66520659 [GRCh38] Chr10:68280417 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1899G>A (p.Leu633=) |
single nucleotide variant |
not specified [RCV004519464] |
Chr10:66103235 [GRCh38] Chr10:67862993 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2033C>T (p.Ala678Val) |
single nucleotide variant |
not specified [RCV004519466] |
Chr10:66069434 [GRCh38] Chr10:67829192 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2039T>G (p.Phe680Cys) |
single nucleotide variant |
not specified [RCV004519467] |
Chr10:66069428 [GRCh38] Chr10:67829186 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2454A>G (p.Val818=) |
single nucleotide variant |
not specified [RCV004519473] |
Chr10:65920564 [GRCh38] Chr10:67680322 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.314C>T (p.Ala105Val) |
single nucleotide variant |
not specified [RCV004519476] |
Chr10:67539648 [GRCh38] Chr10:69299406 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.533G>A (p.Gly178Glu) |
single nucleotide variant |
not specified [RCV004519478] |
Chr10:67521888 [GRCh38] Chr10:69281646 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.775A>G (p.Ile259Val) |
single nucleotide variant |
not specified [RCV004519479] |
Chr10:67219675 [GRCh38] Chr10:68979433 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.808G>C (p.Ala270Pro) |
single nucleotide variant |
not specified [RCV004519480] |
Chr10:67219642 [GRCh38] Chr10:68979400 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.871G>A (p.Val291Ile) |
single nucleotide variant |
not specified [RCV004519481] |
Chr10:67180493 [GRCh38] Chr10:68940251 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2332C>T (p.Gln778Ter) |
single nucleotide variant |
CTNNA3-related disorder [RCV003982652] |
Chr10:65966680 [GRCh38] Chr10:67726438 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1803G>T (p.Leu601Phe) |
single nucleotide variant |
not specified [RCV004519463] |
Chr10:66280551 [GRCh38] Chr10:68040309 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1970C>A (p.Thr657Asn) |
single nucleotide variant |
not specified [RCV004519465] |
Chr10:66103164 [GRCh38] Chr10:67862922 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2242C>G (p.Leu748Val) |
single nucleotide variant |
not specified [RCV004519470] |
Chr10:65988715 [GRCh38] Chr10:67748473 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2393T>C (p.Met798Thr) |
single nucleotide variant |
not specified [RCV004519471] |
Chr10:65966619 [GRCh38] Chr10:67726377 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2428G>A (p.Ala810Thr) |
single nucleotide variant |
not specified [RCV004519472] |
Chr10:65920590 [GRCh38] Chr10:67680348 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2459A>G (p.Gln820Arg) |
single nucleotide variant |
not specified [RCV004519474] |
Chr10:65920559 [GRCh38] Chr10:67680317 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.264G>T (p.Thr88=) |
single nucleotide variant |
not specified [RCV004519475] |
Chr10:67606885 [GRCh38] Chr10:69366643 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1067G>A (p.Ser356Asn) |
single nucleotide variant |
not specified [RCV004374925] |
Chr10:66775505 [GRCh38] Chr10:68535263 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2180A>C (p.His727Pro) |
single nucleotide variant |
not specified [RCV004519469] |
Chr10:65988777 [GRCh38] Chr10:67748535 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.399G>T (p.Thr133=) |
single nucleotide variant |
not specified [RCV004519477] |
Chr10:67539563 [GRCh38] Chr10:69299321 [GRCh37] Chr10:10q21.3 |
likely benign |
NC_000010.11:g.(?_59792917)_(68231677_?)del |
deletion |
Intellectual developmental disorder, autosomal dominant 70 [RCV003883491] |
Chr10:59792917..68231677 [GRCh38] Chr10:10q21.2-21.3 |
likely pathogenic |
NM_013266.4(CTNNA3):c.-5-1214A>C |
single nucleotide variant |
CTNNA3-related disorder [RCV003949338] |
Chr10:67648732 [GRCh38] Chr10:69408490 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1100G>T (p.Cys367Phe) |
single nucleotide variant |
not specified [RCV004519459] |
Chr10:66775472 [GRCh38] Chr10:68535230 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1176G>T (p.Thr392=) |
single nucleotide variant |
not specified [RCV004519460] |
Chr10:66766369 [GRCh38] Chr10:68526127 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.2140G>A (p.Glu714Lys) |
single nucleotide variant |
not specified [RCV004519468] |
Chr10:66069327 [GRCh38] Chr10:67829085 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1189C>A (p.Pro397Thr) |
single nucleotide variant |
not specified [RCV004408078] |
Chr10:66928105 [GRCh38] Chr10:68687863 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1239G>T (p.Glu413Asp) |
single nucleotide variant |
not specified [RCV004408079] |
Chr10:66928155 [GRCh38] Chr10:68687913 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1715G>A (p.Arg572Gln) |
single nucleotide variant |
not specified [RCV004408080] |
Chr10:67097765 [GRCh38] Chr10:68857523 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.23T>C (p.Leu8Pro) |
single nucleotide variant |
not specified [RCV004408081] |
Chr10:66926939 [GRCh38] Chr10:68686697 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68526002)_(68526194_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV004581678] |
Chr10:68526002..68526194 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68040208)_(68139130_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV004581680] |
Chr10:68040208..68139130 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67829046)_(68381562_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV004581681] |
Chr10:67829046..68381562 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67680088)_(67726524_?)dup |
duplication |
Arrhythmogenic right ventricular dysplasia 13 [RCV004581682] |
Chr10:67680088..67726524 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_67748430)_(67748575_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV004581677] |
Chr10:67748430..67748575 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NC_000010.10:g.(?_68138890)_(68381562_?)del |
deletion |
Arrhythmogenic right ventricular dysplasia 13 [RCV004581679] |
Chr10:68138890..68381562 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.660C>T (p.Leu220=) |
single nucleotide variant |
not provided [RCV004598701] |
Chr10:66927576 [GRCh38] Chr10:68687334 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.774G>A (p.Gly258=) |
single nucleotide variant |
not specified [RCV004615911] |
Chr10:67219676 [GRCh38] Chr10:68979434 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.912T>A (p.Leu304=) |
single nucleotide variant |
not specified [RCV004615914] |
Chr10:67180452 [GRCh38] Chr10:68940210 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_178011.5(LRRTM3):c.1114G>T (p.Ala372Ser) |
single nucleotide variant |
not specified [RCV004636277] |
Chr10:66928030 [GRCh38] Chr10:68687788 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1472A>G (p.His491Arg) |
single nucleotide variant |
not specified [RCV004615899] |
Chr10:66520676 [GRCh38] Chr10:68280434 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.259C>A (p.Leu87Ile) |
single nucleotide variant |
not specified [RCV004615910] |
Chr10:67606890 [GRCh38] Chr10:69366648 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2655C>A (p.Val885=) |
single nucleotide variant |
not specified [RCV004615913] |
Chr10:65920363 [GRCh38] Chr10:67680121 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_178011.5(LRRTM3):c.1640C>T (p.Thr547Met) |
single nucleotide variant |
not specified [RCV004640127] |
Chr10:67097690 [GRCh38] Chr10:68857448 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.707C>T (p.Ala236Val) |
single nucleotide variant |
not specified [RCV004615902] |
Chr10:67219743 [GRCh38] Chr10:68979501 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2599A>T (p.Thr867Ser) |
single nucleotide variant |
not specified [RCV004615903] |
Chr10:65920419 [GRCh38] Chr10:67680177 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2431G>T (p.Ala811Ser) |
single nucleotide variant |
not specified [RCV004615905] |
Chr10:65920587 [GRCh38] Chr10:67680345 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1561T>C (p.Cys521Arg) |
single nucleotide variant |
not specified [RCV004615907] |
Chr10:66379323 [GRCh38] Chr10:68139081 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1618A>G (p.Ile540Val) |
single nucleotide variant |
not specified [RCV004615912] |
Chr10:66379266 [GRCh38] Chr10:68139024 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2407A>G (p.Ser803Gly) |
single nucleotide variant |
not provided [RCV004696836] |
Chr10:65920611 [GRCh38] Chr10:67680369 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1181C>T (p.Pro394Leu) |
single nucleotide variant |
not specified [RCV004640128] |
Chr10:66928097 [GRCh38] Chr10:68687855 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1752A>T (p.Thr584=) |
single nucleotide variant |
not specified [RCV004615904] |
Chr10:66280602 [GRCh38] Chr10:68040360 [GRCh37] Chr10:10q21.3 |
likely benign |
NM_013266.4(CTNNA3):c.1201G>C (p.Glu401Gln) |
single nucleotide variant |
not specified [RCV004615909] |
Chr10:66766344 [GRCh38] Chr10:68526102 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.373G>A (p.Ala125Thr) |
single nucleotide variant |
not specified [RCV004615917] |
Chr10:67539589 [GRCh38] Chr10:69299347 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1048G>C (p.Ala350Pro) |
single nucleotide variant |
not specified [RCV004615901] |
Chr10:66775524 [GRCh38] Chr10:68535282 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1456T>A (p.Trp486Arg) |
single nucleotide variant |
not specified [RCV004615908] |
Chr10:66520692 [GRCh38] Chr10:68280450 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1866T>G (p.Cys622Trp) |
single nucleotide variant |
not specified [RCV004615916] |
Chr10:66280488 [GRCh38] Chr10:68040246 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.2232G>C (p.Arg744Ser) |
single nucleotide variant |
not specified [RCV004615918] |
Chr10:65988725 [GRCh38] Chr10:67748483 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_013266.4(CTNNA3):c.1732+1G>A |
single nucleotide variant |
CTNNA3-related disorder [RCV004754204] |
Chr10:66379151 [GRCh38] Chr10:68138909 [GRCh37] Chr10:10q21.3 |
uncertain significance |
NM_178011.5(LRRTM3):c.1278G>T (p.Ala426=) |
single nucleotide variant |
not provided [RCV004722579] |
Chr10:66928194 [GRCh38] Chr10:68687952 [GRCh37] Chr10:10q21.3 |
likely benign |