1 |
TMEM216 |
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) | ‎‎
SNV |
Pathogenic |
198 |
rs201108965 |
11:61161437-61161437 |
11:61393965-61393965 |
2 |
TMEM216 |
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
56384 |
rs11230683 |
11:61165269-61165269 |
11:61397797-61397797 |
3 |
TMEM216 |
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
217704 |
rs755459875 |
11:61165414-61165414 |
11:61397942-61397942 |
4 |
TMEM216 |
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
197 |
rs201108965 |
11:61161437-61161437 |
11:61393965-61393965 |
5 |
TMEM216 |
NM_001173990.3(TMEM216):c.34+2T>C | ‎‎
SNV |
Likely pathogenic |
371740 |
rs1057517498 |
11:61160139-61160139 |
11:61392667-61392667 |
6 |
TMEM216 |
NM_001173990.3(TMEM216):c.35-2A>G | ‎‎
SNV |
Likely pathogenic |
371778 |
rs1057517528 |
11:61160701-61160701 |
11:61393229-61393229 |
7 |
TMEM216 |
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) | ‎‎
deletion |
Likely pathogenic |
371759 |
rs1057517512 |
11:61161441-61161441 |
11:61393969-61393969 |
8 |
TMEM216 |
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) | ‎‎
deletion |
Likely pathogenic |
371763 |
rs767384710 |
11:61161442-61161442 |
11:61393970-61393970 |
9 |
TMEM216 |
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) | ‎‎
duplication |
Likely pathogenic |
371710 |
rs767384710 |
11:61161441-61161442 |
11:61393969-61393970 |
10 |
TMEM216 |
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) | ‎‎
insertion |
Likely pathogenic |
558417 |
rs1554972958 |
11:61165332-61165333 |
11:61397860-61397861 |
11 |
TMEM216 |
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) | ‎‎
SNV |
Likely pathogenic |
554706 |
rs147267631 |
11:61165352-61165352 |
11:61397880-61397880 |
12 |
TMEM216 |
NM_001173990.3(TMEM216):c.137-1G>A | ‎‎
SNV |
Likely pathogenic |
558218 |
rs1554972547 |
11:61161355-61161355 |
11:61393883-61393883 |
13 |
TMEM216 |
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) | ‎‎
deletion |
Likely pathogenic |
551831 |
rs1554972556 |
11:61161380-61161384 |
11:61393908-61393912 |
14 |
TMEM216 |
NM_016499.5(TMEM216):c.-283G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
878887 |
|
11:61160018-61160018 |
11:61392546-61392546 |
15 |
TMEM216 |
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
193189 |
rs569734777 |
11:61160108-61160108 |
11:61392636-61392636 |
16 |
TMEM216 |
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
217706 |
rs541666319 |
11:61161435-61161435 |
11:61393963-61393963 |
17 |
TMEM216 |
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
217705 |
rs779526456 |
11:61161436-61161436 |
11:61393964-61393964 |
18 |
TMEM216 |
NM_001173990.3(TMEM216):c.*21A>G | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
257594 |
rs111371929 |
11:61165769-61165769 |
11:61398297-61398297 |
19 |
TMEM216 |
NM_001173990.3(TMEM216):c.*303C>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
877371 |
|
11:61166051-61166051 |
11:61398579-61398579 |
20 |
TMEM216 |
NM_001173990.3(TMEM216):c.-24C>T | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
305076 |
rs59493015 |
11:61160080-61160080 |
11:61392608-61392608 |
21 |
TMEM216 |
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
305081 |
rs749351351 |
11:61165436-61165436 |
11:61397964-61397964 |
22 |
TMEM216 |
NM_016499.5(TMEM216):c.-332T>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
305073 |
rs183785901 |
11:61159969-61159969 |
11:61392497-61392497 |
23 |
TMEM216 |
NM_016499.5(TMEM216):c.-288G>A | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
305075 |
rs557559653 |
11:61160013-61160013 |
11:61392541-61392541 |
24 |
TMEM216 |
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
305080 |
rs200289511 |
11:61165374-61165374 |
11:61397902-61397902 |
25 |
TMEM216 |
NM_001173990.3(TMEM216):c.*247C>T | ‎‎
SNV |
Uncertain significance |
305086 |
rs886048413 |
11:61165995-61165995 |
11:61398523-61398523 |
26 |
TMEM216 |
NM_001173991.2(TMEM216):c.-242C>T | ‎‎
SNV |
Uncertain significance |
305072 |
rs756981776 |
11:61159862-61159862 |
11:61392390-61392390 |
27 |
TMEM216 |
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) | ‎‎
SNV |
Uncertain significance |
305079 |
rs752216307 |
11:61165360-61165360 |
11:61397888-61397888 |
28 |
TMEM216 |
NM_001173990.3(TMEM216):c.*107G>T | ‎‎
SNV |
Uncertain significance |
305085 |
rs535550368 |
11:61165855-61165855 |
11:61398383-61398383 |
29 |
TMEM216 |
NM_001173990.3(TMEM216):c.*335G>A | ‎‎
SNV |
Uncertain significance |
305087 |
rs886048414 |
11:61166083-61166083 |
11:61398611-61398611 |
30 |
TMEM216 |
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) | ‎‎
SNV |
Uncertain significance |
305078 |
rs201614099 |
11:61165305-61165305 |
11:61397833-61397833 |
31 |
TMEM216 |
NM_016499.5(TMEM216):c.-325A>C | ‎‎
SNV |
Uncertain significance |
305074 |
rs886048411 |
11:61159976-61159976 |
11:61392504-61392504 |
32 |
TMEM216 |
NM_001173990.3(TMEM216):c.*372C>T | ‎‎
SNV |
Uncertain significance |
305088 |
rs565159932 |
11:61166120-61166120 |
11:61398648-61398648 |
33 |
TMEM216 |
NM_001173990.3(TMEM216):c.*377T>C | ‎‎
SNV |
Uncertain significance |
878392 |
|
11:61166125-61166125 |
11:61398653-61398653 |
34 |
TMEM216 |
NM_001173990.3(TMEM216):c.*393C>T | ‎‎
SNV |
Uncertain significance |
878393 |
|
11:61166141-61166141 |
11:61398669-61398669 |
35 |
TMEM216 |
NM_001173990.3(TMEM216):c.*525T>G | ‎‎
SNV |
Uncertain significance |
878394 |
|
11:61166273-61166273 |
11:61398801-61398801 |
36 |
TMEM216 |
NM_001173990.3(TMEM216):c.*548T>A | ‎‎
SNV |
Uncertain significance |
878986 |
|
11:61166296-61166296 |
11:61398824-61398824 |
37 |
TMEM216 |
NC_000011.10:g.61392347A>G | ‎‎
SNV |
Uncertain significance |
878303 |
|
11:61159819-61159819 |
|
38 |
TMEM216 |
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) | ‎‎
SNV |
Uncertain significance |
289981 |
rs762918371 |
11:61161359-61161359 |
11:61393887-61393887 |
39 |
TMEM216 |
NM_001173990.3(TMEM216):c.*93T>C | ‎‎
SNV |
Uncertain significance |
305084 |
rs746881860 |
11:61165841-61165841 |
11:61398369-61398369 |
40 |
TMEM216 |
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) | ‎‎
SNV |
Uncertain significance |
878935 |
|
11:61165398-61165398 |
11:61397926-61397926 |
41 |
TMEM216 |
NM_001173990.3(TMEM216):c.*190A>G | ‎‎
SNV |
Uncertain significance |
877370 |
|
11:61165938-61165938 |
11:61398466-61398466 |
42 |
TMEM216 |
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) | ‎‎
SNV |
Uncertain significance |
557517 |
rs1287246452 |
11:61160104-61160104 |
11:61392632-61392632 |
43 |
TMEM216 |
NM_001173990.3(TMEM216):c.432-10delinsAC | ‎‎
indel |
Uncertain significance |
552510 |
rs1554973021 |
11:61165732-61165732 |
11:61398260-61398260 |
44 |
TMEM216 |
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs) | ‎‎
duplication |
Uncertain significance |
553034 |
rs1554972964 |
11:61165353-61165354 |
11:61397881-61397882 |
45 |
TMEM216 |
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) | ‎‎
SNV |
Uncertain significance |
598600 |
rs769285695 |
11:61160725-61160725 |
11:61393253-61393253 |
46 |
TMEM216 |
NM_001173991.2(TMEM216):c.-264C>T | ‎‎
SNV |
Uncertain significance |
878304 |
|
11:61159840-61159840 |
11:61392368-61392368 |
47 |
TMEM216 |
NM_001173990.3(TMEM216):c.230-9dup | ‎‎
duplication |
Uncertain significance |
557532 |
rs1554972934 |
11:61165236-61165237 |
11:61397764-61397765 |
48 |
TMEM216 |
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG | ‎‎
indel |
Uncertain significance |
558461 |
rs1554973024 |
11:61165732-61165734 |
11:61398260-61398262 |
49 |
TMEM216 |
NM_001173990.3(TMEM216):c.432-10delinsAA | ‎‎
indel |
Uncertain significance |
557306 |
rs1554973021 |
11:61165732-61165732 |
11:61398260-61398260 |
50 |
TMEM216 |
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) | ‎‎
deletion |
Uncertain significance |
557444 |
rs1554972400 |
11:61160094-61160113 |
11:61392622-61392641 |