1 |
ELANE |
NM_001972.4(ELANE):c.214G>A (p.Val72Met) |
SNV |
Pathogenic
|
16744 |
rs387906553 |
GRCh37: 19:853022-853022 GRCh38: 19:853022-853022 |
2 |
ELANE |
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) |
SNV |
Pathogenic
|
16746 |
rs28931611 |
GRCh37: 19:853019-853019 GRCh38: 19:853019-853019 |
3 |
ELANE |
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) |
SNV |
Pathogenic
|
208494 |
rs797045009 |
GRCh37: 19:855758-855758 GRCh38: 19:855758-855758 |
4 |
TCIRG1 |
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) |
SNV |
Pathogenic
|
127173 |
rs587779413 |
GRCh37: 11:67817691-67817691 GRCh38: 11:68050224-68050224 |
5 |
ELANE |
NM_001972.4(ELANE):c.452G>C (p.Cys151Ser) |
SNV |
Pathogenic
|
1339552 |
|
GRCh37: 19:855649-855649 GRCh38: 19:855649-855649 |
6 |
ELANE |
NM_001972.4(ELANE):c.574_583del (p.Gly192fs) |
DEL |
Pathogenic
|
1339651 |
|
GRCh37: 19:855768-855777 GRCh38: 19:855768-855777 |
7 |
ELANE |
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) |
SNV |
Pathogenic
|
986920 |
rs2035677025 |
GRCh37: 19:856082-856082 GRCh38: 19:856082-856082 |
8 |
ELANE |
NM_001972.4(ELANE):c.1A>G (p.Met1Val) |
SNV |
Pathogenic
|
1343367 |
|
GRCh37: 19:852329-852329 GRCh38: 19:852329-852329 |
9 |
ELANE |
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) |
SNV |
Pathogenic
|
803509 |
rs1599294750 |
GRCh37: 19:856029-856029 GRCh38: 19:856029-856029 |
10 |
ELANE |
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe) |
SNV |
Pathogenic
|
372362 |
rs878855320 |
GRCh37: 19:852945-852945 GRCh38: 19:852945-852945 |
11 |
ELANE |
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) |
SNV |
Pathogenic
Pathogenic
|
16748 |
rs137854451 |
GRCh37: 19:856000-856000 GRCh38: 19:856000-856000 |
12 |
ELANE |
NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla) |
DUP |
Pathogenic
|
1693275 |
|
GRCh37: 19:853325-853326 GRCh38: 19:853325-853326 |
13 |
ELANE |
NM_001972.4(ELANE):c.367-8C>A |
SNV |
Pathogenic
|
1402531 |
|
GRCh37: 19:855556-855556 GRCh38: 19:855556-855556 |
14 |
ELANE |
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp) |
SNV |
Pathogenic
|
1452300 |
|
GRCh37: 19:855574-855574 GRCh38: 19:855574-855574 |
15 |
ELANE |
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
16743 |
rs137854448 |
GRCh37: 19:855613-855613 GRCh38: 19:855613-855613 |
16 |
ELANE |
NM_001972.4(ELANE):c.292G>T (p.Val98Leu) |
SNV |
Pathogenic
|
16747 |
rs267606781 |
GRCh37: 19:853329-853329 GRCh38: 19:853329-853329 |
17 |
ELANE |
NM_001972.4(ELANE):c.597+1G>A |
SNV |
Pathogenic
Pathogenic
|
242287 |
rs1555710005 |
GRCh37: 19:855795-855795 GRCh38: 19:855795-855795 |
18 |
ELANE |
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) |
SNV |
Pathogenic
Pathogenic
|
535843 |
rs57246956 |
GRCh37: 19:855649-855649 GRCh38: 19:855649-855649 |
19 |
ELANE |
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) |
SNV |
Pathogenic
|
16738 |
rs137854445 |
GRCh37: 19:856019-856019 GRCh38: 19:856019-856019 |
20 |
ELANE |
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) |
SNV |
Pathogenic
|
16740 |
rs137854447 |
GRCh37: 19:852990-852990 GRCh38: 19:852990-852990 |
21 |
ELANE |
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) |
SNV |
Pathogenic
Conflicting Interpretations Of Pathogenicity
|
16745 |
rs137854450 |
GRCh37: 19:855574-855574 GRCh38: 19:855574-855574 |
22 |
ELANE |
NM_001972.4(ELANE):c.597+5G>A |
SNV |
Pathogenic
|
245598 |
rs879253882 |
GRCh37: 19:855799-855799 GRCh38: 19:855799-855799 |
23 |
ELANE |
NM_001972.4(ELANE):c.597+5G>T |
SNV |
Pathogenic
|
1069597 |
|
GRCh37: 19:855799-855799 GRCh38: 19:855799-855799 |
24 |
ELANE |
NM_001972.4(ELANE):c.687del (p.Asp230fs) |
DEL |
Pathogenic
|
1069598 |
|
GRCh37: 19:856044-856044 GRCh38: 19:856044-856044 |
25 |
ELANE |
NM_001972.4(ELANE):c.301G>A (p.Val101Met) |
SNV |
Pathogenic
|
844491 |
rs137854449 |
GRCh37: 19:853338-853338 GRCh38: 19:853338-853338 |
26 |
ELANE |
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) |
SNV |
Pathogenic
Pathogenic
|
939547 |
rs201139487 |
GRCh37: 19:855967-855967 GRCh38: 19:855967-855967 |
27 |
ELANE |
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr) |
SNV |
Likely Pathogenic
|
1495615 |
|
GRCh37: 19:852977-852977 GRCh38: 19:852977-852977 |
28 |
ELANE |
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly) |
SNV |
Likely Pathogenic
|
1495685 |
|
GRCh37: 19:855982-855982 GRCh38: 19:855982-855982 |
29 |
ELANE |
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro) |
SNV |
Likely Pathogenic
|
1012306 |
|
GRCh37: 19:855565-855565 GRCh38: 19:855565-855565 |
30 |
ELANE |
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu) |
SNV |
Likely Pathogenic
|
1301410 |
|
GRCh37: 19:856001-856001 GRCh38: 19:856001-856001 |
31 |
ELANE |
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) |
SNV |
Likely Pathogenic
|
842953 |
rs745455816 |
GRCh37: 19:853345-853345 GRCh38: 19:853345-853345 |
32 |
ELANE |
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) |
SNV |
Likely Pathogenic
|
836562 |
rs1405536870 |
GRCh37: 19:853290-853290 GRCh38: 19:853290-853290 |
33 |
ELANE |
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) |
SNV |
Likely Pathogenic
|
952580 |
rs2035616857 |
GRCh37: 19:852944-852944 GRCh38: 19:852944-852944 |
34 |
ELANE |
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
696438 |
rs193141883 |
GRCh37: 19:855721-855721 GRCh38: 19:855721-855721 |
35 |
ELANE |
NM_001972.4(ELANE):c.10G>A (p.Gly4Ser) |
SNV |
Uncertain Significance
Uncertain Significance
|
570477 |
rs773460580 |
GRCh37: 19:852338-852338 GRCh38: 19:852338-852338 |
36 |
ELANE |
NM_001972.4(ELANE):c.73G>A (p.Ala25Thr) |
SNV |
Uncertain Significance
|
1718175 |
|
GRCh37: 19:852881-852881 GRCh38: 19:852881-852881 |
37 |
ELANE |
NM_001972.4(ELANE):c.431G>A (p.Arg144His) |
SNV |
Uncertain Significance
|
242281 |
rs142441575 |
GRCh37: 19:855628-855628 GRCh38: 19:855628-855628 |
38 |
ELANE |
NM_001972.4(ELANE):c.556G>A (p.Val186Ile) |
SNV |
Uncertain Significance
|
265118 |
rs140642538 |
GRCh37: 19:855753-855753 GRCh38: 19:855753-855753 |
39 |
ELANE |
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) |
SNV |
Uncertain Significance
|
418179 |
rs1064793108 |
GRCh37: 19:853288-853288 GRCh38: 19:853288-853288 |
40 |
ELANE |
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro) |
SNV |
Uncertain Significance
|
242289 |
rs878855319 |
GRCh37: 19:852948-852948 GRCh38: 19:852948-852948 |
41 |
ELANE |
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) |
SNV |
Uncertain Significance
|
242290 |
rs201421847 |
GRCh37: 19:853025-853025 GRCh38: 19:853025-853025 |
42 |
ELANE |
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) |
SNV |
Uncertain Significance
|
449746 |
rs112990855 |
GRCh37: 19:855687-855687 GRCh38: 19:855687-855687 |
43 |
ELANE |
NM_001972.4(ELANE):c.119C>T (p.Ala40Val) |
SNV |
Uncertain Significance
|
467828 |
rs1555709342 |
GRCh37: 19:852927-852927 GRCh38: 19:852927-852927 |
44 |
ELANE |
NM_001972.4(ELANE):c.428G>A (p.Arg143His) |
SNV |
Uncertain Significance
|
515631 |
rs200993994 |
GRCh37: 19:855625-855625 GRCh38: 19:855625-855625 |
45 |
ELANE |
NM_001972.4(ELANE):c.235G>C (p.Ala79Pro) |
SNV |
Uncertain Significance
|
535844 |
rs769123461 |
GRCh37: 19:853272-853272 GRCh38: 19:853272-853272 |
46 |
ELANE |
NM_001972.4(ELANE):c.702G>A (p.Pro234=) |
SNV |
Uncertain Significance
|
668759 |
rs202059602 |
GRCh37: 19:856062-856062 GRCh38: 19:856062-856062 |
47 |
ELANE |
NM_001972.4(ELANE):c.378G>A (p.Ser126=) |
SNV |
Uncertain Significance
|
535839 |
rs202204133 |
GRCh37: 19:855575-855575 GRCh38: 19:855575-855575 |
48 |
ELANE |
NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) |
SNV |
Uncertain Significance
|
535840 |
rs1555709360 |
GRCh37: 19:852980-852980 GRCh38: 19:852980-852980 |
49 |
ELANE |
NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) |
SNV |
Uncertain Significance
|
535841 |
rs756726256 |
GRCh37: 19:852366-852366 GRCh38: 19:852366-852366 |
50 |
ELANE |
NM_001972.4(ELANE):c.665G>A (p.Gly222Asp) |
SNV |
Uncertain Significance
|
535842 |
rs1555710104 |
GRCh37: 19:856025-856025 GRCh38: 19:856025-856025 |