1 |
POMT2 |
NM_013382.5(POMT2):c.924-2A>C | ‎‎
SNV |
Pathogenic |
449378 |
rs886044256 |
14:77765116-77765116 |
14:77298773-77298773 |
2 |
POMT2 |
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) | ‎‎
SNV |
Pathogenic |
538730 |
rs147871747 |
14:77769186-77769186 |
14:77302843-77302843 |
3 |
POMT2 |
NM_013382.5(POMT2):c.673del (p.Trp225fs) | ‎‎
deletion |
Pathogenic |
649496 |
|
14:77767576-77767576 |
14:77301233-77301233 |
4 |
POMT2 |
NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) | ‎‎
SNV |
Pathogenic |
3218 |
rs119463989 |
14:77745192-77745192 |
14:77278849-77278849 |
5 |
POMT2 |
NM_013382.5(POMT2):c.1006+1G>A | ‎‎
SNV |
Pathogenic |
3219 |
rs533916138 |
14:77765031-77765031 |
14:77298688-77298688 |
6 |
POMT2 |
NM_013382.5(POMT2):c.1261del (p.Arg421fs) | ‎‎
deletion |
Pathogenic |
3220 |
rs587777815 |
14:77753158-77753158 |
14:77286815-77286815 |
7 |
POMT2 |
NM_013382.5(POMT2):c.1293dup (p.Met432fs) | ‎‎
duplication |
Pathogenic |
538734 |
rs1555352706 |
14:77753125-77753126 |
14:77286782-77286783 |
8 |
POMT2 |
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) | ‎‎
SNV |
Pathogenic |
3222 |
rs267606969 |
14:77743795-77743795 |
14:77277452-77277452 |
9 |
POMT2 |
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) | ‎‎
SNV |
Pathogenic |
3231 |
rs267606970 |
14:77762566-77762566 |
14:77296223-77296223 |
10 |
POMT2 |
POMT2, IVS12AS, G-A, -14 | ‎‎
SNV |
Pathogenic |
3235 |
|
|
|
11 |
POMT2 |
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) | ‎‎
SNV |
Pathogenic |
3236 |
rs267606968 |
14:77751863-77751863 |
14:77285520-77285520 |
12 |
POMT2 |
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) | ‎‎
SNV |
Pathogenic |
3226 |
rs267606965 |
14:77757723-77757723 |
14:77291380-77291380 |
13 |
POMT2 |
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) | ‎‎
SNV |
Pathogenic |
95535 |
rs368817785 |
14:77751891-77751891 |
14:77285548-77285548 |
14 |
POMT2 |
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) | ‎‎
SNV |
Pathogenic |
289683 |
rs775932206 |
14:77765080-77765080 |
14:77298737-77298737 |
15 |
POMT2 |
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) | ‎‎
SNV |
Pathogenic/Likely pathogenic |
3221 |
rs200198778 |
14:77745107-77745107 |
14:77278764-77278764 |
16 |
POMT2 |
NM_013382.5(POMT2):c.1485-2_1485-1del | ‎‎
deletion |
Likely pathogenic |
579922 |
rs1185491348 |
14:77751385-77751386 |
14:77285042-77285043 |
17 |
POMT2 |
NM_013382.5(POMT2):c.1752_1753CA[1] (p.Thr585fs) | ‎‎
short repeat |
Likely pathogenic |
538732 |
rs1555351894 |
14:77746394-77746395 |
14:77280051-77280052 |
18 |
POMT2 |
NM_013382.5(POMT2):c.248+1G>C | ‎‎
SNV |
Likely pathogenic |
579369 |
rs961440747 |
14:77786776-77786776 |
14:77320433-77320433 |
19 |
POMT2 |
NM_013382.5(POMT2):c.1332+6_1332+9del | ‎‎
short repeat |
Conflicting interpretations of pathogenicity |
592360 |
rs781093215 |
14:77753078-77753081 |
14:77286735-77286738 |
20 |
POMT2 |
NM_013382.5(POMT2):c.871C>G (p.Leu291Val) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
436382 |
rs764015186 |
14:77765850-77765850 |
14:77299507-77299507 |
21 |
POMT2 |
NM_013382.5(POMT2):c.1397G>A (p.Arg466Gln) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
471387 |
rs138266415 |
14:77751911-77751911 |
14:77285568-77285568 |
22 |
POMT2 |
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
79628 |
rs141339355 |
14:77762578-77762578 |
14:77296235-77296235 |
23 |
POMT2 |
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
95541 |
rs151103906 |
14:77786793-77786793 |
14:77320450-77320450 |
24 |
POMT2 |
NM_013382.5(POMT2):c.1404A>G (p.Lys468=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
194247 |
rs150491326 |
14:77751904-77751904 |
14:77285561-77285561 |
25 |
POMT2 |
NM_013382.5(POMT2):c.1485-4A>C | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
194400 |
rs794727127 |
14:77751388-77751388 |
14:77285045-77285045 |
26 |
POMT2 |
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
194648 |
rs151051452 |
14:77746759-77746759 |
14:77280416-77280416 |
27 |
POMT2 |
NM_013382.5(POMT2):c.1881G>A (p.Ala627=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
194863 |
rs146588608 |
14:77746176-77746176 |
14:77279833-77279833 |
28 |
POMT2 |
NM_013382.5(POMT2):c.1903G>A (p.Val635Ile) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
194965 |
rs142299878 |
14:77745201-77745201 |
14:77278858-77278858 |
29 |
POMT2 |
NM_013382.5(POMT2):c.1958C>T (p.Pro653Leu) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
194966 |
rs794727228 |
14:77745146-77745146 |
14:77278803-77278803 |
30 |
POMT2 |
NM_013382.5(POMT2):c.84C>T (p.Ala28=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
290205 |
rs771031903 |
14:77786941-77786941 |
14:77320598-77320598 |
31 |
POMT2 |
NM_013382.5(POMT2):c.1935C>T (p.Leu645=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
284450 |
rs141193672 |
14:77745169-77745169 |
14:77278826-77278826 |
32 |
POMT2 |
NM_013382.5(POMT2):c.648C>T (p.Cys216=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
314560 |
rs147871747 |
14:77769186-77769186 |
14:77302843-77302843 |
33 |
POMT2 |
NM_013382.5(POMT2):c.1206A>C (p.Pro402=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
386968 |
rs142479943 |
14:77755152-77755152 |
14:77288809-77288809 |
34 |
POMT2 |
NM_013382.5(POMT2):c.1261C>T (p.Arg421Trp) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
162597 |
rs727502855 |
14:77753158-77753158 |
14:77286815-77286815 |
35 |
POMT2 |
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
166904 |
rs146307965 |
14:77746777-77746777 |
14:77280434-77280434 |
36 |
POMT2 |
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
211949 |
rs117173425 |
14:77751332-77751332 |
14:77284989-77284989 |
37 |
POMT2 |
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
282243 |
rs200163818 |
14:77744827-77744827 |
14:77278484-77278484 |
38 |
POMT2 |
NM_013382.5(POMT2):c.651C>T (p.Ala217=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
282404 |
rs147845081 |
14:77769183-77769183 |
14:77302840-77302840 |
39 |
POMT2 |
NM_013382.5(POMT2):c.649G>A (p.Ala217Thr) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
282839 |
rs144748043 |
14:77769185-77769185 |
14:77302842-77302842 |
40 |
POMT2 |
NM_013382.5(POMT2):c.1654-8T>G | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
283033 |
rs780532724 |
14:77746814-77746814 |
14:77280471-77280471 |
41 |
POMT2 |
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
260291 |
rs147268052 |
14:77755108-77755108 |
14:77288765-77288765 |
42 |
POMT2 |
NM_013382.5(POMT2):c.2223A>G (p.Gly741=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
283477 |
rs554801559 |
14:77743749-77743749 |
14:77277406-77277406 |
43 |
POMT2 |
NM_013382.5(POMT2):c.66C>T (p.Gly22=) | ‎‎
SNV |
Conflicting interpretations of pathogenicity |
285150 |
rs200670377 |
14:77786959-77786959 |
14:77320616-77320616 |
44 |
POMT2 |
NM_013382.5(POMT2):c.621G>A (p.Met207Ile) | ‎‎
SNV |
Uncertain significance |
285222 |
rs551885065 |
14:77769213-77769213 |
14:77302870-77302870 |
45 |
POMT2 |
NM_013382.5(POMT2):c.825G>A (p.Val275=) | ‎‎
SNV |
Uncertain significance |
288761 |
rs779272258 |
14:77765896-77765896 |
14:77299553-77299553 |
46 |
POMT2 |
NM_013382.5(POMT2):c.2086C>A (p.Pro696Thr) | ‎‎
SNV |
Uncertain significance |
283989 |
rs76700503 |
14:77744798-77744798 |
14:77278455-77278455 |
47 |
POMT2 |
NM_013382.5(POMT2):c.1711C>T (p.Pro571Ser) | ‎‎
SNV |
Uncertain significance |
284056 |
rs771812476 |
14:77746749-77746749 |
14:77280406-77280406 |
48 |
POMT2 |
NM_013382.5(POMT2):c.1920C>T (p.Gly640=) | ‎‎
SNV |
Uncertain significance |
281987 |
rs150755807 |
14:77745184-77745184 |
14:77278841-77278841 |
49 |
POMT2 |
NM_013382.5(POMT2):c.1732C>T (p.Arg578Cys) | ‎‎
SNV |
Uncertain significance |
283109 |
rs148466370 |
14:77746417-77746417 |
14:77280074-77280074 |
50 |
POMT2 |
NM_013382.5(POMT2):c.148C>G (p.Arg50Gly) | ‎‎
SNV |
Uncertain significance |
211948 |
rs550420394 |
14:77786877-77786877 |
14:77320534-77320534 |