1 |
SMARCB1 |
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) |
SNV |
Pathogenic
|
30202 |
rs387906811 |
GRCh37: 22:24133992-24133992 GRCh38: 22:23791805-23791805 |
2 |
NF2 |
NM_000268.4(NF2):c.125_126insG (p.Gly43fs) |
INSERT |
Pathogenic
|
3299 |
rs587776564 |
GRCh37: 22:30032750-30032751 GRCh38: 22:29636761-29636762 |
3 |
NF2 |
NM_000268.4(NF2):c.205_211del (p.Lys69fs) |
DEL |
Pathogenic
|
3300 |
rs587776565 |
GRCh37: 22:30032830-30032836 GRCh38: 22:29636841-29636847 |
4 |
NF2 |
NM_000268.4(NF2):c.363+1G>A |
SNV |
Pathogenic
|
635372 |
rs1601583839 |
GRCh37: 22:30035202-30035202 GRCh38: 22:29639213-29639213 |
5 |
SMARCB1 |
NM_003073.5(SMARCB1):c.233-2_237del |
DEL |
Pathogenic
|
8029 |
|
GRCh37: 22:24135742-24135748 GRCh38: 22:23793555-23793561 |
6 |
NF2 |
NC_000022.11:g.(29668447_29671826)_(29681601_?)del |
DEL |
Pathogenic
|
3298 |
|
GRCh37: GRCh38: 22:29668447-29681601 |
7 |
SMARCB1 |
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs) |
DUP |
Pathogenic
|
1686219 |
|
GRCh37: 22:24159071-24159072 GRCh38: 22:23816884-23816885 |
8 |
SMARCB1 |
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs) |
DEL |
Pathogenic
|
1686218 |
|
GRCh37: 22:24135818-24135857 GRCh38: 22:23793631-23793670 |
9 |
SMARCB1 |
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) |
SNV |
Pathogenic
|
8031 |
rs267607072 |
GRCh37: 22:24129448-24129448 GRCh38: 22:23787261-23787261 |
10 |
SMARCB1 |
NM_003073.5(SMARCB1):c.629-361_795+2103dup |
DUP |
Pathogenic
|
8030 |
|
GRCh37: 22:24158592-24158593 GRCh38: 22:23816405-23816406 |
11 |
SMARCB1 |
NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs) |
INDEL |
Pathogenic
|
8028 |
rs587776679 |
GRCh37: 22:24134052-24134065 GRCh38: 22:23791865-23791878 |
12 |
SMARCB1 |
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) |
SNV |
Pathogenic
|
8026 |
rs74315513 |
GRCh37: 22:24129390-24129390 GRCh38: 22:23787203-23787203 |
13 |
SMARCB1 |
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) |
SNV |
Likely Pathogenic
|
825898 |
rs1601405064 |
GRCh37: 22:24145549-24145549 GRCh38: 22:23803362-23803362 |
14 |
SMARCB1 |
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) |
SNV |
Uncertain Significance
|
340912 |
rs762962010 |
GRCh37: 22:24145588-24145588 GRCh38: 22:23803401-23803401 |
15 |
SMARCB1 |
NM_003073.5(SMARCB1):c.987-4G>C |
SNV |
Uncertain Significance
|
340915 |
rs745773662 |
GRCh37: 22:24175755-24175755 GRCh38: 22:23833568-23833568 |
16 |
SMARCB1 |
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) |
SNV |
Uncertain Significance
|
410706 |
rs779769475 |
GRCh37: 22:24134007-24134007 GRCh38: 22:23791820-23791820 |
17 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*100C>G |
SNV |
Uncertain Significance
|
903097 |
rs1363655817 |
GRCh37: 22:24176467-24176467 GRCh38: 22:23834280-23834280 |
18 |
SMARCB1 |
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) |
SNV |
Uncertain Significance
|
532975 |
rs145695677 |
GRCh37: 22:24135822-24135822 GRCh38: 22:23793635-23793635 |
19 |
NF2 |
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) |
SNV |
Uncertain Significance
|
457904 |
rs1049732514 |
GRCh37: 22:30077554-30077554 GRCh38: 22:29681565-29681565 |
20 |
NF2 |
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) |
SNV |
Uncertain Significance
|
565467 |
rs774824164 |
GRCh37: 22:30077472-30077472 GRCh38: 22:29681483-29681483 |
21 |
NF2 |
NM_000268.4(NF2):c.1232G>A (p.Arg411His) |
SNV |
Uncertain Significance
|
527695 |
rs201214090 |
GRCh37: 22:30069367-30069367 GRCh38: 22:29673378-29673378 |
22 |
NF2 |
NM_000268.4(NF2):c.215T>C (p.Val72Ala) |
SNV |
Uncertain Significance
|
569354 |
rs1260510937 |
GRCh37: 22:30032840-30032840 GRCh38: 22:29636851-29636851 |
23 |
NF2 |
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) |
SNV |
Uncertain Significance
|
638486 |
rs1601515682 |
GRCh37: 22:29999991-29999991 GRCh38: 22:29604002-29604002 |
24 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*279G>A |
SNV |
Uncertain Significance
|
340921 |
rs886057287 |
GRCh37: 22:24176646-24176646 GRCh38: 22:23834459-23834459 |
25 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*113C>T |
SNV |
Uncertain Significance
|
340920 |
rs886057286 |
GRCh37: 22:24176480-24176480 GRCh38: 22:23834293-23834293 |
26 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-107A>G |
SNV |
Uncertain Significance
|
340910 |
rs886057284 |
GRCh37: 22:24129250-24129250 GRCh38: 22:23787063-23787063 |
27 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-157G>A |
SNV |
Uncertain Significance
|
340905 |
rs886057281 |
GRCh37: 22:24129200-24129200 GRCh38: 22:23787013-23787013 |
28 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-148T>C |
SNV |
Uncertain Significance
|
340907 |
rs886057283 |
GRCh37: 22:24129209-24129209 GRCh38: 22:23787022-23787022 |
29 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-83C>T |
SNV |
Uncertain Significance
|
903043 |
rs1374186002 |
GRCh37: 22:24129274-24129274 GRCh38: 22:23787087-23787087 |
30 |
SMARCB1 |
NM_003073.5(SMARCB1):c.1118+8T>C |
SNV |
Uncertain Significance
|
902212 |
rs2030796889 |
GRCh37: 22:24175898-24175898 GRCh38: 22:23833711-23833711 |
31 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*307A>G |
SNV |
Uncertain Significance
|
900606 |
rs2030874248 |
GRCh37: 22:24176674-24176674 GRCh38: 22:23834487-23834487 |
32 |
SMARCB1 |
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=) |
SNV |
Uncertain Significance
|
900547 |
rs1930218305 |
GRCh37: 22:24158961-24158961 GRCh38: 22:23816774-23816774 |
33 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*197A>C |
SNV |
Uncertain Significance
|
899472 |
rs1306414841 |
GRCh37: 22:24176564-24176564 GRCh38: 22:23834377-23834377 |
34 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*159C>G |
SNV |
Uncertain Significance
|
899471 |
rs1022324232 |
GRCh37: 22:24176526-24176526 GRCh38: 22:23834339-23834339 |
35 |
SMARCB1 |
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) |
SNV |
Likely Benign
|
416321 |
rs145934279 |
GRCh37: 22:24159024-24159024 GRCh38: 22:23816837-23816837 |
36 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*17C>T |
SNV |
Likely Benign
|
340918 |
rs372348692 |
GRCh37: 22:24176384-24176384 GRCh38: 22:23834197-23834197 |
37 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*15C>A |
SNV |
Likely Benign
|
340917 |
rs369400289 |
GRCh37: 22:24176382-24176382 GRCh38: 22:23834195-23834195 |
38 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-17C>T |
SNV |
Benign
|
340911 |
rs372777519 |
GRCh37: 22:24129340-24129340 GRCh38: 22:23787153-23787153 |
39 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*293C>T |
SNV |
Benign
|
340922 |
rs754865420 |
GRCh37: 22:24176660-24176660 GRCh38: 22:23834473-23834473 |
40 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-117C>T |
SNV |
Benign
|
340908 |
rs11090285 |
GRCh37: 22:24129240-24129240 GRCh38: 22:23787053-23787053 |
41 |
SMARCB1 |
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) |
SNV |
Benign
|
126368 |
rs2229354 |
GRCh37: 22:24167513-24167513 GRCh38: 22:23825326-23825326 |
42 |
SMARCB1 |
NM_003073.5(SMARCB1):c.362+7C>T |
SNV |
Benign
|
239483 |
rs34746244 |
GRCh37: 22:24135882-24135882 GRCh38: 22:23793695-23793695 |
43 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-184G>A |
SNV |
Benign
|
900500 |
rs563943196 |
GRCh37: 22:24129173-24129173 GRCh38: 22:23786986-23786986 |
44 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-115C>T |
SNV |
Benign
|
340909 |
rs551328283 |
GRCh37: 22:24129242-24129242 GRCh38: 22:23787055-23787055 |
45 |
SMARCB1 |
NM_003073.5(SMARCB1):c.*33T>G |
SNV |
Benign
|
903096 |
rs11541580 |
GRCh37: 22:24176400-24176400 GRCh38: 22:23834213-23834213 |
46 |
SMARCB1 |
NM_003073.5(SMARCB1):c.-31C>T |
SNV |
Benign
|
903044 |
rs34276473 |
GRCh37: 22:24129326-24129326 GRCh38: 22:23787139-23787139 |
47 |
SMARCB1 |
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) |
SNV |
Benign
|
388704 |
rs187488637 |
GRCh37: 22:24167594-24167594 GRCh38: 22:23825407-23825407 |
48 |
SMARCB1 |
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) |
SNV |
Benign
|
416325 |
rs149451748 |
GRCh37: 22:24175804-24175804 GRCh38: 22:23833617-23833617 |
49 |
SMARCB1 |
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) |
SNV |
Benign
|
135257 |
rs367768260 |
GRCh37: 22:24129357-24129357 GRCh38: 22:23787170-23787170 |
50 |
SMARCB1 |
NM_003073.5(SMARCB1):c.628+13C>T |
SNV |
Benign
|
340913 |
rs184021903 |
GRCh37: 22:24145622-24145622 GRCh38: 22:23803435-23803435 |