1 |
OPTN |
NC_000010.11:g.(?_13109103)_(13136886_?)del |
deletion |
Pathogenic |
529764 |
|
10:13151103-13178886 |
10:13109103-13136886 |
2 |
OPTN |
NC_000010.10:g.(?_12833157)_(13178866_?)del |
deletion |
Pathogenic |
584050 |
|
10:12833157-13178866 |
|
3 |
OPTN |
NC_000010.11:g.(?_13109123)_(13183100_?)del |
deletion |
Pathogenic |
583651 |
|
10:13151123-13225100 |
10:13109123-13183100 |
4 |
OPTN |
NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) |
duplication |
Pathogenic |
576203 |
rs1564354968 |
10:13151279-13151280 |
10:13109279-13109280 |
5 |
OPTN |
NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) |
insertion |
Pathogenic |
647662 |
|
10:13154464-13154465 |
10:13112464-13112465 |
6 |
OPTN |
NC_000010.11:g.(?_13109113)_(13112645_?)del |
deletion |
Pathogenic |
832940 |
|
10:13151113-13154645 |
|
7 |
OPTN |
NC_000010.11:g.(?_13116257)_(13116350_?)del |
deletion |
Pathogenic |
831344 |
|
10:13158257-13158350 |
|
8 |
OPTN |
NM_001008212.2(OPTN):c.1217del (p.Thr406fs) |
deletion |
Pathogenic |
873267 |
|
10:13168014-13168014 |
10:13126014-13126014 |
9 |
OPTN |
NM_001008212.2(OPTN):c.76del (p.His26fs) |
deletion |
Pathogenic |
873264 |
|
10:13151192-13151192 |
10:13109192-13109192 |
10 |
OPTN |
OPTN, EX5DEL |
deletion |
Pathogenic |
7100 |
|
|
|
11 |
OPTN |
NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter) |
SNV |
Pathogenic |
7101 |
rs267606928 |
10:13167989-13167989 |
10:13125989-13125989 |
12 |
OPTN |
NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly) |
SNV |
Pathogenic |
7102 |
rs267606929 |
10:13174098-13174098 |
10:13132098-13132098 |
13 |
OPTN |
NM_001008212.2(OPTN):c.875dup (p.Glu293fs) |
duplication |
Likely pathogenic |
873265 |
|
10:13164477-13164478 |
10:13122477-13122478 |
14 |
OPTN |
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) |
deletion |
Likely pathogenic |
873266 |
|
10:13167494-13167495 |
10:13125494-13125495 |
15 |
OPTN |
NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) |
SNV |
Conflicting interpretations of pathogenicity |
631627 |
rs140599944 |
10:13154486-13154486 |
10:13112486-13112486 |
16 |
OPTN |
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) |
SNV |
Conflicting interpretations of pathogenicity |
7098 |
rs75654767 |
10:13178766-13178766 |
10:13136766-13136766 |
17 |
OPTN |
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) |
SNV |
Conflicting interpretations of pathogenicity |
256881 |
rs113811959 |
10:13154572-13154572 |
10:13112572-13112572 |
18 |
OPTN |
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) |
SNV |
Conflicting interpretations of pathogenicity |
266060 |
rs142812715 |
10:13166053-13166053 |
10:13124053-13124053 |
19 |
OPTN |
NM_001008212.2(OPTN):c.444G>A (p.Val148=) |
SNV |
Conflicting interpretations of pathogenicity |
299213 |
rs780011442 |
10:13154527-13154527 |
10:13112527-13112527 |
20 |
OPTN |
NM_001008212.2(OPTN):c.573A>G (p.Ser191=) |
SNV |
Conflicting interpretations of pathogenicity |
299215 |
rs773095721 |
10:13158287-13158287 |
10:13116287-13116287 |
21 |
OPTN |
NM_001008212.2(OPTN):c.*1251C>G |
SNV |
Conflicting interpretations of pathogenicity |
299236 |
rs542617940 |
10:13180117-13180117 |
10:13138117-13138117 |
22 |
OPTN |
NM_001008212.2(OPTN):c.812G>A (p.Arg271His) |
SNV |
Conflicting interpretations of pathogenicity |
877716 |
|
10:13164417-13164417 |
10:13122417-13122417 |
23 |
OPTN |
NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp) |
SNV |
Conflicting interpretations of pathogenicity |
877717 |
|
10:13164472-13164472 |
10:13122472-13122472 |
24 |
OPTN |
NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp) |
SNV |
Conflicting interpretations of pathogenicity |
879707 |
|
10:13178765-13178765 |
10:13136765-13136765 |
25 |
OPTN |
NM_001008212.2(OPTN):c.963C>T (p.Ser321=) |
SNV |
Conflicting interpretations of pathogenicity |
299218 |
rs150381274 |
10:13166075-13166075 |
10:13124075-13124075 |
26 |
OPTN |
NM_001008212.2(OPTN):c.1569G>A (p.Ala523=) |
SNV |
Conflicting interpretations of pathogenicity |
299222 |
rs771316696 |
10:13175538-13175538 |
10:13133538-13133538 |
27 |
OPTN |
NM_001008212.2(OPTN):c.1427A>G (p.His476Arg) |
SNV |
Uncertain significance |
299220 |
rs886046821 |
10:13174092-13174092 |
10:13132092-13132092 |
28 |
OPTN |
NM_001008212.2(OPTN):c.*938C>G |
SNV |
Uncertain significance |
299232 |
rs886046826 |
10:13179804-13179804 |
10:13137804-13137804 |
29 |
OPTN |
NM_001008212.2(OPTN):c.*1089G>A |
SNV |
Uncertain significance |
299235 |
rs758812707 |
10:13179955-13179955 |
10:13137955-13137955 |
30 |
OPTN |
NM_001008212.2(OPTN):c.*1385T>C |
SNV |
Uncertain significance |
299238 |
rs546352206 |
10:13180251-13180251 |
10:13138251-13138251 |
31 |
OPTN |
NM_001008212.2(OPTN):c.*1063C>A |
SNV |
Uncertain significance |
299234 |
rs530046832 |
10:13179929-13179929 |
10:13137929-13137929 |
32 |
OPTN |
NM_001008212.2(OPTN):c.*222G>C |
SNV |
Uncertain significance |
877764 |
|
10:13179088-13179088 |
10:13137088-13137088 |
33 |
OPTN |
NM_001008212.2(OPTN):c.*335C>T |
SNV |
Uncertain significance |
877765 |
|
10:13179201-13179201 |
10:13137201-13137201 |
34 |
OPTN |
NM_001008212.2(OPTN):c.*631A>G |
SNV |
Uncertain significance |
878794 |
|
10:13179497-13179497 |
10:13137497-13137497 |
35 |
OPTN |
NM_001008212.2(OPTN):c.*1111A>C |
SNV |
Uncertain significance |
879768 |
|
10:13179977-13179977 |
10:13137977-13137977 |
36 |
OPTN |
NM_001008212.2(OPTN):c.1243-9C>A |
SNV |
Uncertain significance |
878758 |
|
10:13169736-13169736 |
10:13127736-13127736 |
37 |
OPTN |
NM_001008211.1(OPTN):c.-408G>T |
SNV |
Uncertain significance |
877641 |
|
10:13142127-13142127 |
10:13100127-13100127 |
38 |
OPTN |
NM_001008212.2(OPTN):c.-184C>G |
SNV |
Uncertain significance |
879254 |
|
10:13142282-13142282 |
10:13100282-13100282 |
39 |
OPTN |
NM_001008212.2(OPTN):c.-172G>A |
SNV |
Uncertain significance |
879255 |
|
10:13142294-13142294 |
10:13100294-13100294 |
40 |
OPTN |
NM_001008212.2(OPTN):c.-9A>G |
SNV |
Uncertain significance |
880441 |
|
10:13151114-13151114 |
10:13109114-13109114 |
41 |
OPTN |
NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) |
SNV |
Uncertain significance |
880442 |
|
10:13151139-13151139 |
10:13109139-13109139 |
42 |
OPTN |
NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) |
SNV |
Uncertain significance |
878705 |
|
10:13152466-13152466 |
10:13110466-13110466 |
43 |
OPTN |
NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) |
SNV |
Uncertain significance |
878706 |
|
10:13154481-13154481 |
10:13112481-13112481 |
44 |
OPTN |
NC_000010.11:g.(?_13118878)_(13119050_?)del |
deletion |
Uncertain significance |
832895 |
|
10:13160878-13161050 |
|
45 |
OPTN |
NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) |
SNV |
Uncertain significance |
861585 |
|
10:13158319-13158319 |
10:13116319-13116319 |
46 |
OPTN |
NM_001008212.2(OPTN):c.1533-3C>T |
SNV |
Uncertain significance |
852864 |
|
10:13175499-13175499 |
10:13133499-13133499 |
47 |
OPTN |
NM_001008212.2(OPTN):c.626+4T>C |
SNV |
Uncertain significance |
848382 |
|
10:13158344-13158344 |
10:13116344-13116344 |
48 |
OPTN |
NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) |
SNV |
Uncertain significance |
447910 |
rs377219791 |
10:13174107-13174107 |
10:13132107-13132107 |
49 |
OPTN |
NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) |
SNV |
Uncertain significance |
651429 |
|
10:13154486-13154486 |
10:13112486-13112486 |
50 |
OPTN |
NM_001008212.2(OPTN):c.1402-3C>G |
SNV |
Uncertain significance |
650247 |
|
10:13174064-13174064 |
10:13132064-13132064 |