1 |
PRKAG2 |
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) |
SNV |
Pathogenic |
6846 |
rs121908987 |
7:151273498-151273498 |
7:151576412-151576412 |
2 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Glu351_Leu352insLeu) |
insertion |
Pathogenic |
6848 |
rs587776643 |
7:151269750-151269751 |
7:151572664-151572665 |
3 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile) |
SNV |
Pathogenic |
6850 |
rs121908989 |
7:151261285-151261285 |
7:151564199-151564199 |
4 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) |
SNV |
Pathogenic |
6854 |
rs267606977 |
7:151257699-151257699 |
7:151560613-151560613 |
5 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) |
SNV |
Likely pathogenic |
6855 |
rs267606978 |
7:151261232-151261232 |
7:151564146-151564146 |
6 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) |
SNV |
Likely pathogenic |
6849 |
rs28938173 |
7:151265836-151265836 |
7:151568750-151568750 |
7 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) |
SNV |
Conflicting interpretations of pathogenicity |
6853 |
rs267606976 |
7:151261289-151261289 |
7:151564203-151564203 |
8 |
PRKAG2 |
NM_016203.4(PRKAG2):c.947-7G>A |
SNV |
Conflicting interpretations of pathogenicity |
465344 |
rs1554464198 |
7:151272042-151272042 |
7:151574956-151574956 |
9 |
PRKAG2 |
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=) |
SNV |
Conflicting interpretations of pathogenicity |
465343 |
rs756923555 |
7:151573618-151573618 |
7:151876533-151876533 |
10 |
PRKAG2 |
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) |
SNV |
Conflicting interpretations of pathogenicity |
520278 |
rs764742900 |
7:151478272-151478272 |
7:151781186-151781186 |
11 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) |
SNV |
Conflicting interpretations of pathogenicity |
36696 |
rs148197254 |
7:151257695-151257695 |
7:151560609-151560609 |
12 |
PRKAG2 |
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) |
SNV |
Conflicting interpretations of pathogenicity |
36697 |
rs79474211 |
7:151478406-151478406 |
7:151781320-151781320 |
13 |
DNAAF3 , TNNI3 , TNNT1 |
NM_000363.5(TNNI3):c.373-10= |
SNV |
Conflicting interpretations of pathogenicity |
36881 |
rs7252610 |
19:55665584-55665584 |
19:55154216-55154216 |
14 |
TNNI3 |
NM_000363.5(TNNI3):c.12-7del |
deletion |
Conflicting interpretations of pathogenicity |
43361 |
rs370714315 |
19:55668683-55668683 |
19:55157315-55157315 |
15 |
PRKAG2 |
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) |
SNV |
Conflicting interpretations of pathogenicity |
45738 |
rs145029525 |
7:151273491-151273491 |
7:151576405-151576405 |
16 |
TNNI3 |
NM_000363.5(TNNI3):c.151-6C>G |
SNV |
Conflicting interpretations of pathogenicity |
43363 |
rs377258542 |
19:55667706-55667706 |
19:55156338-55156338 |
17 |
TNNI3 |
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) |
SNV |
Conflicting interpretations of pathogenicity |
43372 |
rs75491697 |
19:55667578-55667578 |
19:55156210-55156210 |
18 |
TNNI3 |
NM_000363.5(TNNI3):c.373-15C>G |
SNV |
Conflicting interpretations of pathogenicity |
43377 |
rs192630178 |
19:55665589-55665589 |
19:55154221-55154221 |
19 |
TNNI3 |
NM_000363.5(TNNI3):c.373-4C>G |
SNV |
Conflicting interpretations of pathogenicity |
43378 |
rs2288530 |
19:55665578-55665578 |
19:55154210-55154210 |
20 |
DNAAF3 , TNNI3 |
NM_000363.5(TNNI3):c.537G>A (p.Glu179=) |
SNV |
Conflicting interpretations of pathogenicity |
43391 |
rs3729841 |
19:55665410-55665410 |
19:55154042-55154042 |
21 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) |
SNV |
Conflicting interpretations of pathogenicity |
45686 |
rs116541276 |
7:151267265-151267265 |
7:151570179-151570179 |
22 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1106+9G>C |
SNV |
Conflicting interpretations of pathogenicity |
45687 |
rs200429988 |
7:151267248-151267248 |
7:151570162-151570162 |
23 |
PRKAG2 |
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) |
SNV |
Conflicting interpretations of pathogenicity |
45688 |
rs144426409 |
7:151573595-151573595 |
7:151876510-151876510 |
24 |
DNAAF3 , TNNI3 |
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) |
SNV |
Conflicting interpretations of pathogenicity |
43366 |
rs3729711 |
19:55667647-55667647 |
19:55156279-55156279 |
25 |
TNNI3 |
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) |
SNV |
Conflicting interpretations of pathogenicity |
43367 |
rs3729712 |
19:55667616-55667616 |
19:55156248-55156248 |
26 |
PRKAG2 |
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) |
SNV |
Conflicting interpretations of pathogenicity |
45692 |
rs397517263 |
7:151483619-151483619 |
7:151786533-151786533 |
27 |
PRKAG2 |
NM_016203.4(PRKAG2):c.1584+7C>T |
SNV |
Conflicting interpretations of pathogenicity |
45699 |
rs111627309 |
7:151261157-151261157 |
7:151564071-151564071 |
28 |
PRKAG2 |
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) |
SNV |
Conflicting interpretations of pathogenicity |
45710 |
rs142482217 |
7:151478464-151478464 |
7:151781378-151781378 |
29 |
PRKAG2 |
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) |
SNV |
Conflicting interpretations of pathogenicity |
45711 |
rs148791216 |
7:151478457-151478457 |
7:151781371-151781371 |
30 |
PRKAG2 |
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=) |
SNV |
Conflicting interpretations of pathogenicity |
45713 |
rs397517268 |
7:151478392-151478392 |
7:151781306-151781306 |
31 |
PRKAG2 |
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) |
SNV |
Conflicting interpretations of pathogenicity |
45721 |
rs141804012 |
7:151372719-151372719 |
7:151675633-151675633 |
32 |
PRKAG2 |
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) |
SNV |
Conflicting interpretations of pathogenicity |
45733 |
rs201240745 |
7:151329211-151329211 |
7:151632125-151632125 |
33 |
PRKAG2 |
NM_016203.4(PRKAG2):c.*2C>T |
SNV |
Conflicting interpretations of pathogenicity |
177987 |
rs199559205 |
7:151254285-151254285 |
7:151557199-151557199 |
34 |
TNNI3 |
NM_000363.5(TNNI3):c.372+7C>T |
SNV |
Conflicting interpretations of pathogenicity |
165519 |
rs367809676 |
19:55666102-55666102 |
19:55154734-55154734 |
35 |
PRKAG2 |
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) |
SNV |
Conflicting interpretations of pathogenicity |
181465 |
rs730880970 |
7:151478502-151478502 |
7:151781416-151781416 |
36 |
TNNI3 |
NM_000363.5(TNNI3):c.*35C>T |
SNV |
Conflicting interpretations of pathogenicity |
188677 |
rs375447438 |
19:55663167-55663167 |
19:55151799-55151799 |
37 |
TNNI3 |
NM_000363.5(TNNI3):c.-47C>T |
SNV |
Conflicting interpretations of pathogenicity |
188667 |
rs202159627 |
19:55669004-55669004 |
19:55157636-55157636 |
38 |
TNNI3 |
NM_000363.5(TNNI3):c.-98C>A |
SNV |
Conflicting interpretations of pathogenicity |
188666 |
rs12973773 |
19:55669055-55669055 |
19:55157687-55157687 |
39 |
TNNI3 |
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) |
SNV |
Conflicting interpretations of pathogenicity |
137685 |
rs587780967 |
19:55667982-55667982 |
19:55156614-55156614 |
40 |
PRKAG2 |
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) |
SNV |
Conflicting interpretations of pathogenicity |
227880 |
rs764162597 |
7:151272001-151272001 |
7:151574915-151574915 |
41 |
DNAAF3 , TNNI3 |
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) |
SNV |
Conflicting interpretations of pathogenicity |
257685 |
rs111250144 |
19:55670808-55670808 |
19:55159440-55159440 |
42 |
PRKAG2 |
NM_016203.4(PRKAG2):c.186+7C>T |
SNV |
Conflicting interpretations of pathogenicity |
359350 |
rs886062102 |
7:151483549-151483549 |
7:151786463-151786463 |
43 |
PRKAG2 |
NM_016203.4(PRKAG2):c.*135T>C |
SNV |
Conflicting interpretations of pathogenicity |
359340 |
rs184932311 |
7:151254152-151254152 |
7:151557066-151557066 |
44 |
PRKAG2 |
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) |
SNV |
Conflicting interpretations of pathogenicity |
359346 |
rs757727533 |
7:151478275-151478275 |
7:151781189-151781189 |
45 |
PRKAG2 |
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) |
SNV |
Conflicting interpretations of pathogenicity |
359348 |
rs757900380 |
7:151478456-151478456 |
7:151781370-151781370 |
46 |
PRKAG2 |
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) |
SNV |
Conflicting interpretations of pathogenicity |
359351 |
rs767613486 |
7:151483604-151483604 |
7:151786518-151786518 |
47 |
PRKAG2 |
NM_016203.4(PRKAG2):c.*572G>A |
SNV |
Conflicting interpretations of pathogenicity |
359334 |
rs78192883 |
7:151253715-151253715 |
7:151556629-151556629 |
48 |
PRKAG2 |
NM_016203.3(PRKAG2):c.-520C>T |
SNV |
Conflicting interpretations of pathogenicity |
359364 |
rs73160072 |
7:151574225-151574225 |
7:151877140-151877140 |
49 |
PRKAG2 |
NM_016203.4(PRKAG2):c.-16A>G |
SNV |
Conflicting interpretations of pathogenicity |
359352 |
rs200468798 |
7:151573721-151573721 |
7:151876636-151876636 |
50 |
PRKAG2 |
NM_016203.4(PRKAG2):c.-287C>G |
SNV |
Conflicting interpretations of pathogenicity |
359359 |
rs75059373 |
7:151573992-151573992 |
7:151876907-151876907 |