1 |
TMEM67 |
NM_001142301.1(TMEM67):c.2072_2079+4delinsG | ‎‎
indel |
Pathogenic |
1368 |
rs1554557920 |
8:94815905-94815916 |
8:93803677-93803688 |
2 |
TMEM67 |
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) | ‎‎
SNV |
Pathogenic |
1371 |
rs137853107 |
8:94803510-94803510 |
8:93791282-93791282 |
3 |
TMEM67 |
NM_153704.6(TMEM67):c.2439+5G>C | ‎‎
SNV |
Pathogenic |
1372 |
|
8:94817111-94817111 |
8:93804883-93804883 |
4 |
TMEM67 |
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu) | ‎‎
SNV |
Pathogenic |
1374 |
rs267607114 |
8:94805484-94805484 |
8:93793256-93793256 |
5 |
TMEM67 |
NM_001142301.1(TMEM67):c.1718-2A>C | ‎‎
SNV |
Pathogenic |
1375 |
rs758948621 |
8:94809557-94809557 |
8:93797329-93797329 |
6 |
TMEM67 |
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) | ‎‎
SNV |
Pathogenic |
1376 |
rs137853108 |
8:94777845-94777845 |
8:93765617-93765617 |
7 |
TMEM67 |
NM_001142301.1(TMEM67):c.2313+1G>T | ‎‎
SNV |
Pathogenic |
1379 |
rs786200867 |
8:94821185-94821185 |
8:93808957-93808957 |
8 |
TMEM67 |
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) | ‎‎
SNV |
Pathogenic |
1381 |
rs267607115 |
8:94807731-94807731 |
8:93795503-93795503 |
9 |
TMEM67 |
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) | ‎‎
SNV |
Pathogenic |
1382 |
rs267607116 |
8:94821089-94821089 |
8:93808861-93808861 |
10 |
TMEM67 |
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) | ‎‎
SNV |
Pathogenic |
1385 |
rs267607116 |
8:94821089-94821089 |
8:93808861-93808861 |
11 |
TMEM67 |
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) | ‎‎
SNV |
Pathogenic |
1386 |
rs267607118 |
8:94767272-94767272 |
8:93755044-93755044 |
12 |
TMEM67 |
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) | ‎‎
SNV |
Pathogenic |
1387 |
rs202149403 |
8:94792861-94792861 |
8:93780633-93780633 |
13 |
TMEM67 |
TMEM67, PRO358LEU | ‎‎
undetermined variant |
Pathogenic |
30808 |
|
|
|
14 |
TMEM67 |
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) | ‎‎
SNV |
Pathogenic |
56787 |
rs386834205 |
8:94784840-94784840 |
8:93772612-93772612 |
15 |
TMEM67 |
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) | ‎‎
SNV |
Pathogenic |
217712 |
rs751309268 |
8:94768082-94768082 |
8:93755854-93755854 |
16 |
TMEM67 |
NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg) | ‎‎
SNV |
Pathogenic |
217709 |
rs863225226 |
8:94770787-94770787 |
8:93758559-93758559 |
17 |
TMEM67 |
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) | ‎‎
SNV |
Pathogenic |
217721 |
rs750950408 |
8:94777642-94777642 |
8:93765414-93765414 |
18 |
TMEM67 |
NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala) | ‎‎
SNV |
Pathogenic |
217716 |
rs863225229 |
8:94792836-94792836 |
8:93780608-93780608 |
19 |
TMEM67 |
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) | ‎‎
SNV |
Pathogenic |
217710 |
rs863225227 |
8:94792875-94792875 |
8:93780647-93780647 |
20 |
TMEM67 |
NM_001142301.1(TMEM67):c.735+3A>G | ‎‎
SNV |
Pathogenic |
217711 |
rs775256658 |
8:94793213-94793213 |
8:93780985-93780985 |
21 |
TMEM67 |
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) | ‎‎
SNV |
Pathogenic |
217720 |
rs863225232 |
8:94794630-94794630 |
8:93782402-93782402 |
22 |
TMEM67 |
NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter) | ‎‎
SNV |
Pathogenic |
217728 |
rs863225237 |
8:94794638-94794638 |
8:93782410-93782410 |
23 |
TMEM67 |
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser) | ‎‎
SNV |
Pathogenic |
217715 |
rs762543032 |
8:94768026-94768026 |
8:93755798-93755798 |
24 |
TMEM67 |
NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu) | ‎‎
SNV |
Pathogenic |
217719 |
rs863225231 |
8:94794683-94794683 |
8:93782455-93782455 |
25 |
TMEM67 |
NM_001142301.1(TMEM67):c.1431+3A>G | ‎‎
SNV |
Pathogenic |
217707 |
rs863225224 |
8:94805527-94805527 |
8:93793299-93793299 |
26 |
TMEM67 |
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) | ‎‎
SNV |
Pathogenic |
217724 |
rs116647652 |
8:94798513-94798513 |
8:93786285-93786285 |
27 |
TMEM67 |
NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser) | ‎‎
SNV |
Pathogenic |
217713 |
rs863225228 |
8:94800112-94800112 |
8:93787884-93787884 |
28 |
TMEM67 |
NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu) | ‎‎
SNV |
Pathogenic |
217708 |
rs863225225 |
8:94809412-94809412 |
8:93797184-93797184 |
29 |
TMEM67 |
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) | ‎‎
SNV |
Pathogenic |
217717 |
rs751517725 |
8:94815880-94815880 |
8:93803652-93803652 |
30 |
TMEM67 |
NM_153704.6(TMEM67):c.2368C>A (p.His790Asn) | ‎‎
SNV |
Pathogenic |
217718 |
rs863225230 |
8:94817035-94817035 |
8:93804807-93804807 |
31 |
TMEM67 |
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro) | ‎‎
SNV |
Pathogenic |
217723 |
rs863225234 |
8:94821150-94821150 |
8:93808922-93808922 |
32 |
TMEM67 |
NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu) | ‎‎
SNV |
Pathogenic |
217727 |
rs863225236 |
8:94827569-94827569 |
8:93815341-93815341 |
33 |
TMEM67 |
NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys) | ‎‎
SNV |
Pathogenic |
217722 |
rs863225233 |
8:94827593-94827593 |
8:93815365-93815365 |
34 |
TMEM67 |
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
217725 |
rs752362727 |
8:94798483-94798483 |
8:93786255-93786255 |
35 |
TMEM67 |
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
217726 |
rs863225235 |
8:94794672-94794672 |
8:93782444-93782444 |
36 |
TMEM67 |
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
56762 |
rs386834180 |
8:94793953-94793953 |
8:93781725-93781725 |
37 |
TMEM67 |
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
1378 |
rs267607119 |
8:94821126-94821126 |
8:93808898-93808898 |
38 |
TMEM67 |
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) | ‎‎
deletion |
Pathogenic/Likely pathogenic |
56783 |
rs386834202 |
8:94777802-94777803 |
8:93765574-93765575 |
39 |
TMEM67 |
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
216826 |
rs775883520 |
8:94792831-94792831 |
8:93780603-93780603 |
40 |
TMEM67 |
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
1383 |
rs201893408 |
8:94808198-94808198 |
8:93795970-93795970 |
41 |
TMEM67 |
NM_001142301.1(TMEM67):c.408+2T>G | ‎‎
SNV |
Pathogenic/Likely pathogenic |
1373 |
rs199821258 |
8:94777876-94777876 |
8:93765648-93765648 |
42 |
TMEM67 |
NM_001142301.1(TMEM67):c.1332+5G>A | ‎‎
SNV |
Likely pathogenic |
495328 |
rs1554555063 |
8:94803552-94803552 |
8:93791324-93791324 |
43 |
TMEM67 |
NM_153704.6(TMEM67):c.313-3T>G | ‎‎
SNV |
Likely pathogenic |
692261 |
|
8:94770708-94770708 |
8:93758480-93758480 |
44 |
TMEM67 |
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) | ‎‎
deletion |
Likely pathogenic |
225493 |
rs749435317 |
8:94798515-94798515 |
8:93786287-93786287 |
45 |
TMEM67 |
NM_001142301.1(TMEM67):c.2418+5G>A | ‎‎
SNV |
Likely pathogenic |
217730 |
rs863225239 |
8:94821394-94821394 |
8:93809166-93809166 |
46 |
TMEM67 |
NM_001142301.1(TMEM67):c.2079+5del | ‎‎
deletion |
Likely pathogenic |
217731 |
rs863225240 |
8:94815917-94815917 |
8:93803689-93803689 |
47 |
TMEM67 |
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
242363 |
rs115563233 |
8:94811986-94811986 |
8:93799758-93799758 |
48 |
TMEM67 |
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
262741 |
rs767999682 |
8:94767262-94767262 |
8:93755034-93755034 |
49 |
TMEM67 |
NM_001142301.1(TMEM67):c.626+9A>G | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
262756 |
rs372597584 |
8:94792984-94792984 |
8:93780756-93780756 |
50 |
TMEM67 |
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
262745 |
rs886038738 |
8:94821076-94821076 |
8:93808848-93808848 |