1 |
NBEAL2 |
NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter) |
SNV |
Pathogenic
|
31116 |
rs387907112 |
GRCh37: 3:47038800-47038800 GRCh38: 3:46997310-46997310 |
2 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro) |
SNV |
Pathogenic
|
31118 |
rs387907113 |
GRCh37: 3:47035476-47035476 GRCh38: 3:46993986-46993986 |
3 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val) |
SNV |
Pathogenic
|
31119 |
rs387907114 |
GRCh37: 3:47037233-47037233 GRCh38: 3:46995743-46995743 |
4 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu) |
SNV |
Pathogenic
|
31120 |
rs387907115 |
GRCh37: 3:47046466-47046466 GRCh38: 3:47004976-47004976 |
5 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter) |
SNV |
Pathogenic
|
31121 |
rs794726682 |
GRCh37: 3:47037048-47037048 GRCh38: 3:46995558-46995558 |
6 |
NBEAL2 |
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs) |
DUP |
Pathogenic
|
31122 |
rs794726683 |
GRCh37: 3:47044240-47044241 GRCh38: 3:47002750-47002751 |
7 |
NBEAL2 |
NM_015175.3(NBEAL2):c.3118+2T>G |
SNV |
Pathogenic
|
812961 |
rs1349443190 |
GRCh37: 3:47039718-47039718 GRCh38: 3:46998228-46998228 |
8 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) |
DEL |
Pathogenic
|
812962 |
rs1575623114 |
GRCh37: 3:47046681-47046681 GRCh38: 3:47005191-47005191 |
9 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) |
SNV |
Pathogenic
|
627258 |
rs1172581672 |
GRCh37: 3:47037014-47037014 GRCh38: 3:46995524-46995524 |
10 |
NBEAL2 |
NM_015175.3(NBEAL2):c.607dup (p.Ile203fs) |
DUP |
Pathogenic
|
627345 |
rs1575592157 |
GRCh37: 3:47032758-47032759 GRCh38: 3:46991268-46991269 |
11 |
NBEAL2 |
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter) |
SNV |
Pathogenic
|
627372 |
rs1575629721 |
GRCh37: 3:47049067-47049067 GRCh38: 3:47007577-47007577 |
12 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs) |
DUP |
Pathogenic
|
982270 |
rs2036418481 |
GRCh37: 3:47036949-47036950 GRCh38: 3:46995459-46995460 |
13 |
NBEAL2 |
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter) |
DUP |
Pathogenic
|
982272 |
rs2036579205 |
GRCh37: 3:47038849-47038850 GRCh38: 3:46997359-46997360 |
14 |
NBEAL2 |
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs) |
DUP |
Pathogenic
|
982276 |
rs2037501401 |
GRCh37: 3:47048609-47048610 GRCh38: 3:47007119-47007120 |
15 |
NBEAL2 |
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs) |
DEL |
Pathogenic
|
982278 |
rs2037558268 |
GRCh37: 3:47049185-47049185 GRCh38: 3:47007695-47007695 |
16 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6920-1G>C |
SNV |
Pathogenic
|
982279 |
rs2037428827 |
GRCh37: 3:47047654-47047654 GRCh38: 3:47006164-47006164 |
17 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) |
DEL |
Pathogenic
|
982280 |
rs2037363765 |
GRCh37: 3:47046986-47046986 GRCh38: 3:47005496-47005496 |
18 |
NBEAL2 |
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) |
DEL |
Pathogenic
|
982274 |
rs2037048154 |
GRCh37: 3:47043555-47043556 GRCh38: 3:47002065-47002066 |
19 |
NBEAL2 |
NM_015175.3(NBEAL2):c.2650-1G>A |
SNV |
Pathogenic
|
982286 |
rs2036570687 |
GRCh37: 3:47038748-47038748 GRCh38: 3:46997258-46997258 |
20 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs) |
MICROSAT |
Pathogenic
|
982290 |
rs781366964 |
GRCh37: 3:47036694-47036695 GRCh38: 3:46995204-46995205 |
21 |
NBEAL2 |
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs) |
DUP |
Pathogenic
|
1300139 |
|
GRCh37: 3:47044458-47044459 GRCh38: 3:47002968-47002969 |
22 |
NBEAL2 |
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) |
DEL |
Pathogenic
|
982277 |
rs2037042664 |
GRCh37: 3:47043514-47043514 GRCh38: 3:47002024-47002024 |
23 |
NBEAL2 |
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) |
SNV |
Pathogenic
|
435928 |
rs1553663498 |
GRCh37: 3:47041670-47041670 GRCh38: 3:47000180-47000180 |
24 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) |
SNV |
Pathogenic
|
435927 |
rs1553659758 |
GRCh37: 3:47037018-47037018 GRCh38: 3:46995528-46995528 |
25 |
NBEAL2 |
NM_015175.3(NBEAL2):c.4485-1G>T |
SNV |
Pathogenic
|
982282 |
rs763842878 |
GRCh37: 3:47042768-47042768 GRCh38: 3:47001278-47001278 |
26 |
NBEAL2 |
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter) |
SNV |
Pathogenic
|
31117 |
rs372277612 |
GRCh37: 3:47033134-47033134 GRCh38: 3:46991644-46991644 |
27 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr) |
SNV |
Likely Pathogenic
|
1703782 |
|
GRCh37: 3:47047511-47047511 GRCh38: 3:47006021-47006021 |
28 |
NBEAL2 |
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs) |
MICROSAT |
Likely Pathogenic
|
1705844 |
|
GRCh37: 3:47042545-47042546 GRCh38: 3:47001055-47001056 |
29 |
NBEAL2 |
NM_015175.2(NBEAL2):c.6920delG |
DEL |
Likely Pathogenic
|
1684441 |
|
GRCh37: 3:47047654-47047654 GRCh38: 3:47006164-47006164 |
30 |
NBEAL2 |
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs) |
DEL |
Likely Pathogenic
|
1185026 |
|
GRCh37: 3:47048790-47048790 GRCh38: 3:47007300-47007300 |
31 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser) |
SNV |
Likely Pathogenic
|
1684434 |
|
GRCh37: 3:47047527-47047527 GRCh38: 3:47006037-47006037 |
32 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs) |
DEL |
Likely Pathogenic
|
1684437 |
|
GRCh37: 3:47036601-47036601 GRCh38: 3:46995111-46995111 |
33 |
NBEAL2 |
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) |
DEL |
Likely Pathogenic
|
627267 |
rs1235183015 |
GRCh37: 3:47037085-47037085 GRCh38: 3:46995595-46995595 |
34 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) |
SNV |
Likely Pathogenic
|
982289 |
rs2037417315 |
GRCh37: 3:47047528-47047528 GRCh38: 3:47006038-47006038 |
35 |
NBEAL2 |
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp) |
SNV |
Likely Pathogenic
|
1339259 |
|
GRCh37: 3:47037541-47037541 GRCh38: 3:46996051-46996051 |
36 |
NBEAL2 |
NM_015175.3(NBEAL2):c.7103dup (p.His2368fs) |
DUP |
Likely Pathogenic
|
1684440 |
|
GRCh37: 3:47047907-47047908 GRCh38: 3:47006417-47006418 |
37 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter) |
SNV |
Likely Pathogenic
|
1684442 |
|
GRCh37: 3:47046719-47046719 GRCh38: 3:47005229-47005229 |
38 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys) |
SNV |
Likely Pathogenic
|
1684443 |
|
GRCh37: 3:47046025-47046025 GRCh38: 3:47004535-47004535 |
39 |
NBEAL2 |
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs) |
DEL |
Likely Pathogenic
|
1684444 |
|
GRCh37: 3:47044487-47044494 GRCh38: 3:47002997-47003004 |
40 |
NBEAL2 |
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys) |
SNV |
Likely Pathogenic
|
1684445 |
|
GRCh37: 3:47044484-47044484 GRCh38: 3:47002994-47002994 |
41 |
NBEAL2 |
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs) |
DEL |
Likely Pathogenic
|
1684446 |
|
GRCh37: 3:47044263-47044270 GRCh38: 3:47002773-47002780 |
42 |
NBEAL2 |
NM_015175.3(NBEAL2):c.7225-1G>C |
SNV |
Likely Pathogenic
|
804437 |
rs1575628744 |
GRCh37: 3:47048730-47048730 GRCh38: 3:47007240-47007240 |
43 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) |
SNV |
Likely Pathogenic
|
627357 |
rs749279630 |
GRCh37: 3:47047075-47047075 GRCh38: 3:47005585-47005585 |
44 |
NBEAL2 |
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) |
SNV |
Likely Pathogenic
|
627099 |
rs1575619957 |
GRCh37: 3:47045362-47045362 GRCh38: 3:47003872-47003872 |
45 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) |
SNV |
Likely Pathogenic
|
627106 |
rs762258197 |
GRCh37: 3:47046526-47046526 GRCh38: 3:47005036-47005036 |
46 |
NBEAL2 |
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu) |
SNV |
Uncertain Significance
|
627111 |
rs1575623184 |
GRCh37: 3:47046711-47046711 GRCh38: 3:47005221-47005221 |
47 |
NBEAL2 |
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro) |
SNV |
Uncertain Significance
|
627286 |
rs1575602690 |
GRCh37: 3:47038304-47038304 GRCh38: 3:46996814-46996814 |
48 |
NBEAL2 |
NM_015175.3(NBEAL2):c.3373G>A (p.Asp1125Asn) |
SNV |
Uncertain Significance
|
345654 |
rs373444282 |
GRCh37: 3:47040358-47040358 GRCh38: 3:46998868-46998868 |
49 |
NBEAL2 |
NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr) |
SNV |
Uncertain Significance
|
345687 |
rs886058604 |
GRCh37: 3:47048598-47048598 GRCh38: 3:47007108-47007108 |
50 |
NBEAL2 |
NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met) |
SNV |
Uncertain Significance
|
345634 |
rs376623029 |
GRCh37: 3:47037804-47037804 GRCh38: 3:46996314-46996314 |