1 |
TCTN2 |
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) | ‎‎
SNV |
Pathogenic |
218100 |
rs863225426 |
12:124191376-124191376 |
12:123706829-123706829 |
2 |
TCTN2 |
NM_024809.5(TCTN2):c.1235-1G>A | ‎‎
SNV |
Pathogenic |
218099 |
rs863225425 |
12:124179766-124179766 |
12:123695219-123695219 |
3 |
TCTN2 |
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) | ‎‎
duplication |
Pathogenic |
217700 |
rs863225222 |
12:124155857-124155858 |
12:123671310-123671311 |
4 |
TCTN2 |
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
217696 |
rs187433682 |
12:124179406-124179406 |
12:123694859-123694859 |
5 |
TCTN2 |
NM_024809.5(TCTN2):c.564+3A>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
307547 |
rs761089886 |
12:124163839-124163839 |
12:123679292-123679292 |
6 |
TCTN2 |
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
307549 |
rs201545344 |
12:124171406-124171406 |
12:123686859-123686859 |
7 |
TCTN2 |
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
307556 |
rs116845100 |
12:124172721-124172721 |
12:123688174-123688174 |
8 |
TCTN2 |
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
307548 |
rs146698907 |
12:124171389-124171389 |
12:123686842-123686842 |
9 |
TCTN2 |
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
307550 |
rs139927033 |
12:124171453-124171453 |
12:123686906-123686906 |
10 |
ATP6V0A2 , TCTN2 |
NM_024809.5(TCTN2):c.*45G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
307562 |
rs142969969 |
12:124192305-124192305 |
12:123707758-123707758 |
11 |
TCTN2 |
NM_024809.5(TCTN2):c.615C>A (p.Gly205=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
261790 |
rs147485641 |
12:124171433-124171433 |
12:123686886-123686886 |
12 |
TCTN2 |
NM_024809.5(TCTN2):c.1612+12C>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
261787 |
rs117614122 |
12:124184369-124184369 |
12:123699822-123699822 |
13 |
TCTN2 |
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
126288 |
rs79251326 |
12:124171417-124171417 |
12:123686870-123686870 |
14 |
TCTN2 |
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
198261 |
rs149430216 |
12:124171538-124171538 |
12:123686991-123686991 |
15 |
TCTN2 |
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
198262 |
rs147485641 |
12:124171433-124171433 |
12:123686886-123686886 |
16 |
TCTN2 |
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
198593 |
rs144567556 |
12:124172643-124172643 |
12:123688096-123688096 |
17 |
TCTN2 |
NM_024809.5(TCTN2):c.1150C>T (p.His384Tyr) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
697155 |
|
12:124179439-124179439 |
12:123694892-123694892 |
18 |
TCTN2 |
NM_024809.5(TCTN2):c.76G>T (p.Asp26Tyr) | ‎‎
SNV |
Uncertain significance |
882803 |
|
12:124155863-124155863 |
12:123671316-123671316 |
19 |
TCTN2 |
NM_024809.5(TCTN2):c.289A>G (p.Arg97Gly) | ‎‎
SNV |
Uncertain significance |
883591 |
|
12:124158183-124158183 |
12:123673636-123673636 |
20 |
TCTN2 |
NM_024809.5(TCTN2):c.301G>T (p.Gly101Cys) | ‎‎
SNV |
Uncertain significance |
881226 |
|
12:124158195-124158195 |
12:123673648-123673648 |
21 |
TCTN2 |
NM_024809.5(TCTN2):c.490G>T (p.Val164Leu) | ‎‎
SNV |
Uncertain significance |
881228 |
|
12:124163762-124163762 |
12:123679215-123679215 |
22 |
TCTN2 |
NM_024809.5(TCTN2):c.671C>A (p.Thr224Lys) | ‎‎
SNV |
Uncertain significance |
883631 |
|
12:124171489-124171489 |
12:123686942-123686942 |
23 |
TCTN2 |
NM_024809.5(TCTN2):c.752A>G (p.Tyr251Cys) | ‎‎
SNV |
Uncertain significance |
881278 |
|
12:124171570-124171570 |
12:123687023-123687023 |
24 |
TCTN2 |
NM_024809.5(TCTN2):c.796T>C (p.Tyr266His) | ‎‎
SNV |
Uncertain significance |
881279 |
|
12:124172629-124172629 |
12:123688082-123688082 |
25 |
TCTN2 |
NM_024809.5(TCTN2):c.908A>T (p.Gln303Leu) | ‎‎
SNV |
Uncertain significance |
882885 |
|
12:124175096-124175096 |
12:123690549-123690549 |
26 |
TCTN2 |
NM_024809.5(TCTN2):c.1267T>G (p.Leu423Val) | ‎‎
SNV |
Uncertain significance |
883681 |
|
12:124179799-124179799 |
12:123695252-123695252 |
27 |
TCTN2 |
NM_024809.5(TCTN2):c.1329G>A (p.Lys443=) | ‎‎
SNV |
Uncertain significance |
881340 |
|
12:124180978-124180978 |
12:123696431-123696431 |
28 |
TCTN2 |
NM_024809.5(TCTN2):c.1573G>C (p.Asp525His) | ‎‎
SNV |
Uncertain significance |
881783 |
|
12:124184318-124184318 |
12:123699771-123699771 |
29 |
TCTN2 |
NM_024809.5(TCTN2):c.1662C>T (p.Asn554=) | ‎‎
SNV |
Uncertain significance |
881784 |
|
12:124189128-124189128 |
12:123704581-123704581 |
30 |
TCTN2 |
NM_024809.5(TCTN2):c.1699C>T (p.Arg567Cys) | ‎‎
SNV |
Uncertain significance |
881785 |
|
12:124189165-124189165 |
12:123704618-123704618 |
31 |
TCTN2 |
NM_024809.5(TCTN2):c.1872A>G (p.Ala624=) | ‎‎
SNV |
Uncertain significance |
882933 |
|
12:124191375-124191375 |
12:123706828-123706828 |
32 |
TCTN2 |
NM_024809.5(TCTN2):c.1949C>T (p.Pro650Leu) | ‎‎
SNV |
Uncertain significance |
883728 |
|
12:124191585-124191585 |
12:123707038-123707038 |
33 |
TCTN2 |
NM_024809.5(TCTN2):c.*71T>G | ‎‎
SNV |
Uncertain significance |
881390 |
|
12:124192331-124192331 |
12:123707784-123707784 |
34 |
TCTN2 |
NM_024809.5(TCTN2):c.*146C>T | ‎‎
SNV |
Uncertain significance |
881391 |
|
12:124192406-124192406 |
12:123707859-123707859 |
35 |
TCTN2 |
NM_024809.5(TCTN2):c.*290C>G | ‎‎
SNV |
Uncertain significance |
881834 |
|
12:124192550-124192550 |
12:123708003-123708003 |
36 |
TCTN2 |
NM_024809.5(TCTN2):c.*477G>A | ‎‎
SNV |
Uncertain significance |
882984 |
|
12:124192737-124192737 |
12:123708190-123708190 |
37 |
TCTN2 |
NM_024809.5(TCTN2):c.*493T>A | ‎‎
SNV |
Uncertain significance |
882985 |
|
12:124192753-124192753 |
12:123708206-123708206 |
38 |
TCTN2 |
NM_024809.5(TCTN2):c.*559C>T | ‎‎
SNV |
Uncertain significance |
883782 |
|
12:124192819-124192819 |
12:123708272-123708272 |
39 |
TCTN2 |
NM_024809.5(TCTN2):c.*562G>C | ‎‎
SNV |
Uncertain significance |
883783 |
|
12:124192822-124192822 |
12:123708275-123708275 |
40 |
TCTN2 |
NM_024809.5(TCTN2):c.*608T>C | ‎‎
SNV |
Uncertain significance |
881451 |
|
12:124192868-124192868 |
12:123708321-123708321 |
41 |
TCTN2 |
NM_024809.5(TCTN2):c.267+3A>G | ‎‎
SNV |
Uncertain significance |
883590 |
|
12:124156682-124156682 |
12:123672135-123672135 |
42 |
TCTN2 |
NM_024809.5(TCTN2):c.464-7T>A | ‎‎
SNV |
Uncertain significance |
881227 |
|
12:124163729-124163729 |
12:123679182-123679182 |
43 |
TCTN2 |
NM_024809.5(TCTN2):c.1393+15T>C | ‎‎
SNV |
Uncertain significance |
881341 |
|
12:124181057-124181057 |
12:123696510-123696510 |
44 |
TCTN2 |
NM_024809.5(TCTN2):c.1394-6T>C | ‎‎
SNV |
Uncertain significance |
881342 |
|
12:124181628-124181628 |
12:123697081-123697081 |
45 |
TCTN2 |
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) | ‎‎
SNV |
Uncertain significance |
212388 |
rs145374149 |
12:124171486-124171486 |
12:123686939-123686939 |
46 |
TCTN2 |
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) | ‎‎
SNV |
Uncertain significance |
307552 |
rs774785140 |
12:124171495-124171495 |
12:123686948-123686948 |
47 |
TCTN2 |
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) | ‎‎
SNV |
Uncertain significance |
307553 |
rs151318349 |
12:124172609-124172609 |
12:123688062-123688062 |
48 |
TCTN2 |
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) | ‎‎
SNV |
Uncertain significance |
307544 |
rs137939978 |
12:124156614-124156614 |
12:123672067-123672067 |
49 |
TCTN2 |
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) | ‎‎
SNV |
Uncertain significance |
307554 |
rs886049054 |
12:124172646-124172646 |
12:123688099-123688099 |
50 |
TCTN2 |
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) | ‎‎
SNV |
Uncertain significance |
307557 |
rs886049055 |
12:124175080-124175080 |
12:123690533-123690533 |