1 |
MIPEP |
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) |
SNV |
Pathogenic
|
208631 |
rs114638163 |
GRCh37: 13:24380133-24380133 GRCh38: 13:23805994-23805994 |
2 |
overlap with 8 genes |
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 |
CN LOSS |
Pathogenic
|
208634 |
|
GRCh37: 13:23519916-24941516 GRCh38: |
3 |
LAMP2 |
NM_002294.3(LAMP2):c.668dup (p.Tyr223Ter) |
DUP |
Pathogenic
|
1065183 |
|
GRCh37: X:119581768-119581769 GRCh38: X:120447913-120447914 |
4 |
NKX2-5 |
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) |
SNV |
Pathogenic
|
523473 |
rs1554093433 |
GRCh37: 5:172659836-172659836 GRCh38: 5:173232833-173232833 |
5 |
TTN |
NM_001267550.2(TTN):c.20836+1G>A |
SNV |
Pathogenic
|
523428 |
rs1553915256 |
GRCh37: 2:179590094-179590094 GRCh38: 2:178725367-178725367 |
6 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) |
DEL |
Pathogenic
|
523430 |
rs1553707780 |
GRCh37: 2:179481655-179481655 GRCh38: 2:178616928-178616928 |
7 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) |
DUP |
Pathogenic
|
177698 |
rs730880336 |
GRCh37: 11:47367806-47367810 GRCh38: 11:47346254-47346255 |
8 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) |
DEL |
Pathogenic
|
254153 |
rs886037900 |
GRCh37: 11:47364434-47364434 GRCh38: 11:47342883-47342883 |
9 |
MYH7 |
NM_000257.4(MYH7):c.732+1G>A |
SNV |
Pathogenic
|
14127 |
rs730880850 |
GRCh37: 14:23900793-23900793 GRCh38: 14:23431584-23431584 |
10 |
MYH7 |
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) |
SNV |
Pathogenic
|
42822 |
rs397516089 |
GRCh37: 14:23899016-23899016 GRCh38: 14:23429807-23429807 |
11 |
MYH7 |
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) |
SNV |
Pathogenic
|
164378 |
rs727503269 |
GRCh37: 14:23898538-23898538 GRCh38: 14:23429329-23429329 |
12 |
MYH7 |
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) |
SNV |
Pathogenic
|
181327 |
rs730880856 |
GRCh37: 14:23900163-23900163 GRCh38: 14:23430954-23430954 |
13 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3190+5G>A |
SNV |
Pathogenic
|
155808 |
rs587782958 |
GRCh37: 11:47355103-47355103 GRCh38: 11:47333552-47333552 |
14 |
MYBPC3 |
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) |
DEL |
Pathogenic
|
164021 |
rs727503166 |
GRCh37: 11:47353661-47353661 GRCh38: 11:47332110-47332110 |
15 |
LMNA |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) |
SNV |
Pathogenic
|
36473 |
rs386134243 |
GRCh37: 1:156105758-156105758 GRCh38: 1:156135967-156135967 |
16 |
LOC110121269, SCN5A |
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) |
SNV |
Risk Factor
|
9393 |
rs7626962 |
GRCh37: 3:38620907-38620907 GRCh38: 3:38579416-38579416 |
17 |
MYBPC3 |
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) |
SNV |
Likely Pathogenic
|
177902 |
rs573916965 |
GRCh37: 11:47367848-47367848 GRCh38: 11:47346297-47346297 |
18 |
LMNA |
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) |
SNV |
Likely Pathogenic
|
48045 |
rs201583907 |
GRCh37: 1:156106982-156106982 GRCh38: 1:156137191-156137191 |
19 |
SLC30A5 |
NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs) |
DEL |
Likely Pathogenic
|
976212 |
rs1746359403 |
GRCh37: 5:68411799-68411803 GRCh38: 5:69115972-69115976 |
20 |
MYH7 |
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) |
DEL |
Likely Pathogenic
|
42968 |
rs397516190 |
GRCh37: 14:23889120-23889122 GRCh38: 14:23419911-23419913 |
21 |
MYH7 |
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) |
SNV |
Likely Pathogenic
|
164299 |
rs727503249 |
GRCh37: 14:23888797-23888797 GRCh38: 14:23419588-23419588 |
22 |
GJD2-DT, ACTC1 |
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) |
SNV |
Likely Pathogenic
|
45190 |
rs397517071 |
GRCh37: 15:35084293-35084293 GRCh38: 15:34792092-34792092 |
23 |
MYH7 |
NM_000257.4(MYH7):c.732+2T>G |
SNV |
Likely Pathogenic
|
454395 |
rs1555338658 |
GRCh37: 14:23900792-23900792 GRCh38: 14:23431583-23431583 |
24 |
MYH7 |
NM_000257.4(MYH7):c.1000-1G>A |
SNV |
Likely Pathogenic
|
637005 |
rs113392527 |
GRCh37: 14:23899123-23899123 GRCh38: 14:23429914-23429914 |
25 |
SLC30A5 |
NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs) |
DEL |
Likely Pathogenic
|
988899 |
rs1746589361 |
GRCh37: 5:68419234-68419235 GRCh38: 5:69123407-69123408 |
26 |
DTNA |
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) |
SNV |
Likely Pathogenic
|
374197 |
rs1057518968 |
GRCh37: 18:32374029-32374029 GRCh38: 18:34794065-34794065 |
27 |
LDB3 |
NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala) |
SNV |
Uncertain Significance
|
967764 |
rs1589674758 |
GRCh37: 10:88476203-88476203 GRCh38: 10:86716446-86716446 |
28 |
MYH6 |
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His) |
SNV |
Uncertain Significance
|
44482 |
rs376002621 |
GRCh37: 14:23859615-23859615 GRCh38: 14:23390406-23390406 |
29 |
DSP |
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) |
SNV |
Uncertain Significance
|
642389 |
rs1581813405 |
GRCh37: 6:7578028-7578028 GRCh38: 6:7577795-7577795 |
30 |
PKP2 |
NM_001005242.3(PKP2):c.1878C>A (p.Asn626Lys) |
SNV |
Uncertain Significance
|
684846 |
rs769943903 |
GRCh37: 12:32974425-32974425 GRCh38: 12:32821491-32821491 |
31 |
MYH7 |
NM_000257.4(MYH7):c.803T>G (p.Leu268Arg) |
SNV |
Uncertain Significance
|
684854 |
rs1555338582 |
GRCh37: 14:23900202-23900202 GRCh38: 14:23430993-23430993 |
32 |
MIPEP |
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) |
SNV |
Uncertain Significance
|
208630 |
rs143912947 |
GRCh37: 13:24443458-24443458 GRCh38: 13:23869319-23869319 |
33 |
MIPEP |
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) |
SNV |
Uncertain Significance
|
208629 |
rs1057518740 |
GRCh37: 13:24460623-24460623 GRCh38: 13:23886484-23886484 |
34 |
MIPEP |
NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) |
SNV |
Uncertain Significance
|
208632 |
rs1057518741 |
GRCh37: 13:24436467-24436467 GRCh38: 13:23862328-23862328 |
35 |
MIPEP |
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) |
SNV |
Uncertain Significance
|
208628 |
rs1057518739 |
GRCh37: 13:24380192-24380192 GRCh38: 13:23806053-23806053 |
36 |
TAFAZZIN |
NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter) |
DUP |
Uncertain Significance
|
446166 |
rs1557194203 |
GRCh37: X:153648583-153648584 GRCh38: X:154420244-154420245 |
37 |
MIPEP |
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) |
SNV |
Uncertain Significance
|
208633 |
rs779598020 |
GRCh37: 13:24411700-24411700 GRCh38: 13:23837561-23837561 |
38 |
RYR2 |
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) |
SNV |
Uncertain Significance
|
488158 |
rs1553325274 |
GRCh37: 1:237951371-237951371 GRCh38: 1:237788071-237788071 |
39 |
RYR2 |
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) |
SNV |
Uncertain Significance
|
165128 |
rs571985775 |
GRCh37: 1:237949299-237949299 GRCh38: 1:237785999-237785999 |
40 |
ANKRD1 |
NM_014391.3(ANKRD1):c.806G>A (p.Arg269Gln) |
SNV |
Uncertain Significance
|
520516 |
rs367609929 |
GRCh37: 10:92675343-92675343 GRCh38: 10:90915586-90915586 |
41 |
JUP |
NM_002230.4(JUP):c.2105G>A (p.Arg702His) |
SNV |
Uncertain Significance
|
178849 |
rs200690479 |
GRCh37: 17:39912129-39912129 GRCh38: 17:41755877-41755877 |
42 |
PKP2 |
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) |
SNV |
Uncertain Significance
|
403313 |
rs200947767 |
GRCh37: 12:32949098-32949098 GRCh38: 12:32796164-32796164 |
43 |
BAG3 |
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) |
SNV |
Uncertain Significance
|
179009 |
rs201638005 |
GRCh37: 10:121431912-121431912 GRCh38: 10:119672400-119672400 |
44 |
TGFB3 |
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) |
SNV |
Uncertain Significance
|
192131 |
rs142047577 |
GRCh37: 14:76446944-76446944 GRCh38: 14:75980601-75980601 |
45 |
TPM1 |
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) |
SNV |
Uncertain Significance
|
178148 |
rs371934474 |
GRCh37: 15:63356287-63356287 GRCh38: 15:63064088-63064088 |
46 |
JUP |
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) |
SNV |
Uncertain Significance
|
468745 |
rs376051686 |
GRCh37: 17:39915113-39915113 GRCh38: 17:41758861-41758861 |
47 |
MYBPC3 |
NM_000256.3(MYBPC3):c.2217G>A (p.Glu739=) |
SNV |
Uncertain Significance
|
407331 |
rs786204348 |
GRCh37: 11:47360162-47360162 GRCh38: 11:47338611-47338611 |
48 |
MYH7 |
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) |
SNV |
Uncertain Significance
|
42941 |
rs145532615 |
GRCh37: 14:23892910-23892910 GRCh38: 14:23423701-23423701 |
49 |
MYH6 |
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) |
SNV |
Uncertain Significance
|
470523 |
rs745801044 |
GRCh37: 14:23859585-23859585 GRCh38: 14:23390376-23390376 |
50 |
TTN-AS1, TTN |
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) |
SNV |
Uncertain Significance
|
511503 |
rs182422055 |
GRCh37: 2:179414298-179414298 GRCh38: 2:178549571-178549571 |