1 |
TBC1D23
|
NM_018309.5(TBC1D23): c.1473_1474TG[1] (p.Val492fs)
|
short repeat |
Pathogenic |
rs1553730872
|
3:100029308-100029309 |
3:100310464-100310465 |
2 |
TBC1D23
|
NM_001199198.3(TBC1D23): c.1526delinsAA (p.Ile509fs)
|
indel |
Pathogenic |
rs1553730885
|
3:100029359-100029359 |
3:100310515-100310515 |
3 |
TBC1D23
|
NM_018309.5(TBC1D23): c.1642+2T> G
|
single nucleotide variant |
Pathogenic |
rs1553731605
|
3:100035033-100035033 |
3:100316189-100316189 |
4 |
TSEN54
|
NM_207346.3(TSEN54): c.3_8dup (p.2_3EP[4])
|
duplication |
Conflicting interpretations of pathogenicity |
rs398124622
|
17:73512644-73512649 |
17:75516563-75516568 |
5 |
RARS2
|
NM_020320.5(RARS2): c.155A> T (p.Lys52Ile)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs73496064
|
6:88273906-88273906 |
6:87564188-87564188 |
6 |
SEPSECS
|
NM_016955.4(SEPSECS): c.780A> G (p.Ser260=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs61747281
|
4:25153606-25153606 |
4:25151984-25151984 |
7 |
RARS2
|
NM_020320.5(RARS2): c.-8A> C
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs28381459
|
6:88299683-88299683 |
6:87589965-87589965 |
8 |
RARS2
|
NM_020320.5(RARS2): c.888G> C (p.Thr296=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145189950
|
6:88234361-88234361 |
6:87524643-87524643 |
9 |
RARS2
|
NM_020320.5(RARS2): c.975-14C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs199941996
|
6:88231256-88231256 |
6:87521538-87521538 |
10 |
TSEN2
|
NM_001145394.1(TSEN2): c.272-4C> G
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs41293385
|
3:12538013-12538013 |
3:12496514-12496514 |
11 |
TSEN2
|
NM_001145394.1(TSEN2): c.516+44G> C
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146117200
|
3:12545012-12545012 |
3:12503513-12503513 |
12 |
TSEN2
|
NM_001145394.1(TSEN2): c.1155A> G (p.Lys385=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs113981920
|
3:12573152-12573152 |
3:12531653-12531653 |
13 |
TSEN54
|
NM_207346.3(TSEN54): c.624-9G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138719855
|
17:73517777-73517777 |
17:75521696-75521696 |
14 |
TSEN34
|
NM_024075.5(TSEN34): c.39G> A (p.Val13=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs184898622
|
19:54695254-54695254 |
19:54191403-54191403 |
15 |
TSEN54
|
NM_207346.3(TSEN54): c.1368C> T (p.Asp456=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138560086
|
17:73519798-73519798 |
17:75523717-75523717 |
16 |
TSEN54
|
NM_207346.3(TSEN54): c.325C> G (p.Arg109Gly)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148146916
|
17:73513281-73513281 |
17:75517200-75517200 |
17 |
TSEN54
|
NM_207346.3(TSEN54): c.984T> C (p.Ala328=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs776960594
|
17:73518146-73518146 |
17:75522065-75522065 |
18 |
RARS2
|
NM_020320.5(RARS2): c.1366C> T (p.Arg456Cys)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs147844153
|
6:88228397-88228397 |
6:87518679-87518679 |
19 |
TSEN2
|
NM_001145394.1(TSEN2): c.-18+361G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs9871742
|
3:12526377-12526377 |
3:12484878-12484878 |
20 |
TSEN2
|
NM_001145394.1(TSEN2): c.784-14G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs748777382
|
3:12560544-12560544 |
3:12519045-12519045 |
21 |
TSEN2
|
NM_001145394.1(TSEN2): c.852C> T (p.Tyr284=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs371073764
|
3:12560626-12560626 |
3:12519127-12519127 |
22 |
RARS2
|
NM_020320.5(RARS2): c.1637C> T (p.Pro546Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs142348911
|
6:88224688-88224688 |
6:87514970-87514970 |
23 |
RARS2
; SLC35A1
|
NM_006416.5(SLC35A1): c.*240G> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs9450722
|
6:88221484-88221484 |
6:87511766-87511766 |
24 |
RARS2
|
NM_020320.5(RARS2): c.-13C> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200228607
|
6:88299688-88299688 |
6:87589970-87589970 |
25 |
EXOSC3
|
NM_016042.4(EXOSC3): c.166A> C (p.Asn56His)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148348866
|
9:37784876-37784876 |
9:37784879-37784879 |
26 |
RARS2
|
NM_020320.5(RARS2): c.442A> G (p.Thr148Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143389605
|
6:88258318-88258318 |
6:87548600-87548600 |
27 |
RARS2
|
NM_020320.5(RARS2): c.207A> G (p.Ala69=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs568483789
|
6:88273854-88273854 |
6:87564136-87564136 |
28 |
EXOSC3
|
NM_016042.4(EXOSC3): c.-11T> C
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs373191549
|
9:37785052-37785052 |
9:37785055-37785055 |
29 |
TSEN54
|
NM_207346.3(TSEN54): c.767G> A (p.Gly256Asp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200683263
|
17:73517929-73517929 |
17:75521848-75521848 |
30 |
VRK1
|
NM_003384.3(VRK1): c.375-8G> C
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs191021502
|
14:97319160-97319160 |
14:96852823-96852823 |
31 |
TSEN34
|
NM_024075.5(TSEN34): c.-5+15G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141003293
|
19:54694316-54694316 |
19:54190465-54190465 |
32 |
TSEN34
|
NM_024075.5(TSEN34): c.230G> C (p.Arg77Pro)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs200004897
|
19:54695445-54695445 |
19:54191594-54191594 |
33 |
TSEN54
|
NM_207346.3(TSEN54): c.1415G> A (p.Arg472Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs151332020
|
17:73519845-73519845 |
17:75523764-75523764 |
34 |
TSEN54
|
NM_207346.3(TSEN54): c.285+12G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs373044979
|
17:73513165-73513165 |
17:75517084-75517084 |
35 |
TSEN54
|
NM_207346.3(TSEN54): c.663G> A (p.Leu221=)
|
single nucleotide variant |
Uncertain significance |
rs886053396
|
17:73517825-73517825 |
17:75521744-75521744 |
36 |
TSEN54
|
NM_207346.3(TSEN54): c.862G> A (p.Val288Ile)
|
single nucleotide variant |
Uncertain significance |
rs199682817
|
17:73518024-73518024 |
17:75521943-75521943 |
37 |
TSEN2
|
NM_001145394.1(TSEN2): c.871C> T (p.Arg291Ter)
|
single nucleotide variant |
Uncertain significance |
|
3:12560645-12560645 |
3:12519146-12519146 |
38 |
TSEN34
|
NM_024075.5(TSEN34): c.289C> T (p.Gln97Ter)
|
single nucleotide variant |
Uncertain significance |
|
19:54695617-54695617 |
19:54191766-54191766 |
39 |
TSEN54
|
NM_207346.3(TSEN54): c.1452C> T (p.Asp484=)
|
single nucleotide variant |
Uncertain significance |
rs767631739
|
17:73520364-73520364 |
17:75524283-75524283 |
40 |
TSEN54
|
NM_207346.3(TSEN54): c.1530C> A (p.Ile510=)
|
single nucleotide variant |
Uncertain significance |
rs754461779
|
17:73520442-73520442 |
17:75524361-75524361 |
41 |
TSEN54
|
NM_207346.3(TSEN54): c.*167T> C
|
single nucleotide variant |
Uncertain significance |
rs886053401
|
17:73520660-73520660 |
17:75524579-75524579 |
42 |
TSEN34
|
NM_024075.5(TSEN34): c.591C> G (p.Ala197=)
|
single nucleotide variant |
Uncertain significance |
rs781446570
|
19:54696070-54696070 |
19:54192219-54192219 |
43 |
TSEN34
|
NM_024075.5(TSEN34): c.*94C> T
|
single nucleotide variant |
Uncertain significance |
rs886054626
|
19:54697311-54697311 |
19:54193456-54193456 |
44 |
TSEN34
|
NM_024075.5(TSEN34): c.*849_*850AT[3]
|
short repeat |
Uncertain significance |
rs746578183
|
19:54698072-54698073 |
19:54194217-54194218 |
45 |
TSEN34
|
NM_024075.5(TSEN34): c.*993C> T
|
single nucleotide variant |
Uncertain significance |
rs535031564
|
19:54698213-54698213 |
19:54194355-54194355 |
46 |
TSEN34
|
NM_024075.5(TSEN34): c.*1053G> A
|
single nucleotide variant |
Uncertain significance |
rs182704571
|
19:54698273-54698273 |
19:54194415-54194415 |
47 |
TSEN34
|
NM_024075.5(TSEN34): c.-95A> G
|
single nucleotide variant |
Uncertain significance |
rs115290127
|
19:54694211-54694211 |
19:54190360-54190360 |
48 |
TSEN34
|
NM_024075.5(TSEN34): c.262C> T (p.Arg88Cys)
|
single nucleotide variant |
Uncertain significance |
rs758855323
|
19:54695590-54695590 |
19:54191739-54191739 |
49 |
TSEN34
|
NM_024075.5(TSEN34): c.765C> T (p.His255=)
|
single nucleotide variant |
Uncertain significance |
rs148706818
|
19:54697049-54697049 |
19:54193194-54193194 |
50 |
TSEN34
|
NM_024075.5(TSEN34): c.*358T> C
|
single nucleotide variant |
Uncertain significance |
rs762136353
|
19:54697575-54697575 |
19:54193720-54193720 |