1 |
SMARCB1
|
NM_003073.5(SMARCB1): c.152G> A (p.Trp51Ter)
|
single nucleotide variant |
Pathogenic |
rs1060503016
|
22:24134001-24134001 |
22:23791814-23791814 |
2 |
NF2
|
NC_000022.11: g.(29668447_29671826)_(29681601_?)del
|
deletion |
Pathogenic |
|
|
|
3 |
NF2
|
NM_000268.3(NF2): c.125_126insG (p.Gly43fs)
|
insertion |
Pathogenic |
rs587776564
|
22:30032750-30032751 |
22:29636761-29636762 |
4 |
NF2
|
NM_000268.3(NF2): c.205_211del (p.Lys69fs)
|
deletion |
Pathogenic |
rs587776565
|
22:30032830-30032836 |
22:29636841-29636847 |
5 |
SMARCB1
|
NM_003073.5(SMARCB1): c.92A> T (p.Glu31Val)
|
single nucleotide variant |
Pathogenic |
rs267607072
|
22:24129448-24129448 |
22:23787261-23787261 |
6 |
SMARCB1
|
NM_003073.5(SMARCB1): c.34C> T (p.Gln12Ter)
|
single nucleotide variant |
Pathogenic |
rs74315513
|
22:24129390-24129390 |
22:23787203-23787203 |
7 |
SMARCB1
|
NM_003073.5(SMARCB1): c.203_216delinsTACC (p.His68fs)
|
indel |
Pathogenic |
rs587776679
|
22:24134052-24134065 |
22:23791865-23791878 |
8 |
SMARCB1
|
SMARCB1, 7-BP DEL, NT233
|
deletion |
Pathogenic |
|
|
|
9 |
SMARCB1
|
NM_003073.4(SMARCB1): c.629-361_795+2103dup
|
duplication |
Pathogenic |
|
|
|
10 |
SMARCB1
|
NM_003073.5(SMARCB1): c.143C> T (p.Pro48Leu)
|
single nucleotide variant |
Pathogenic |
rs387906811
|
22:24133992-24133992 |
22:23791805-23791805 |
11 |
SMARCB1
|
NM_003073.5(SMARCB1): c.969_976del (p.Lys324fs)
|
deletion |
Pathogenic |
rs1060503017
|
22:24167585-24167592 |
22:23825398-23825405 |
12 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*82C> T
|
single nucleotide variant |
Pathogenic |
rs878854600
|
22:24176449-24176449 |
22:23834262-23834262 |
13 |
SMARCB1
|
NM_003073.5(SMARCB1): c.723C> T (p.Ile241=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs752910574
|
22:24159051-24159051 |
22:23816864-23816864 |
14 |
SMARCB1
|
NM_003073.5(SMARCB1): c.158G> T (p.Arg53Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs779769475
|
22:24134007-24134007 |
22:23791820-23791820 |
15 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*12_*14dup
|
duplication |
Uncertain significance |
rs779825754
|
22:24176379-24176381 |
22:23834192-23834194 |
16 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*113C> T
|
single nucleotide variant |
Uncertain significance |
rs886057286
|
22:24176480-24176480 |
22:23834293-23834293 |
17 |
NF2
|
NM_000268.3(NF2): c.215T> C (p.Val72Ala)
|
single nucleotide variant |
Uncertain significance |
|
22:30032840-30032840 |
22:29636851-29636851 |
18 |
NF2
|
NM_000268.3(NF2): c.1619A> G (p.Asn540Ser)
|
single nucleotide variant |
Uncertain significance |
|
22:30077472-30077472 |
22:29681483-29681483 |
19 |
NF2
|
NM_000268.3(NF2): c.4G> T (p.Ala2Ser)
|
single nucleotide variant |
Uncertain significance |
|
22:29999991-29999991 |
22:29604002-29604002 |
20 |
SMARCB1
|
NM_003073.5(SMARCB1): c.-157G> A
|
single nucleotide variant |
Uncertain significance |
rs886057281
|
22:24129200-24129200 |
22:23787013-23787013 |
21 |
SMARCB1
|
NM_003073.5(SMARCB1): c.-148T> C
|
single nucleotide variant |
Uncertain significance |
rs886057283
|
22:24129209-24129209 |
22:23787022-23787022 |
22 |
SMARCB1
|
NM_003073.5(SMARCB1): c.790A> C (p.Ile264Leu)
|
single nucleotide variant |
Uncertain significance |
rs887245809
|
22:24159118-24159118 |
22:23816931-23816931 |
23 |
SMARCB1
|
NM_003073.5(SMARCB1): c.888G> T (p.Lys296Asn)
|
single nucleotide variant |
Uncertain significance |
rs769322487
|
22:24167504-24167504 |
22:23825317-23825317 |
24 |
SMARCB1
|
NM_003073.4(SMARCB1): c.-207-?_*338dup1703
|
duplication |
Uncertain significance |
|
22:24129150-24176705 |
22:23786963-23834518 |
25 |
SMARCB1
|
NM_003073.4(SMARCB1): c.987-?_*338dup510
|
duplication |
Uncertain significance |
|
22:24175759-24176705 |
22:23833572-23834518 |
26 |
SMARCB1
|
NM_003073.5(SMARCB1): c.713C> T (p.Ala238Val)
|
single nucleotide variant |
Uncertain significance |
rs1060503019
|
22:24159041-24159041 |
22:23816854-23816854 |
27 |
NF2
|
NM_000268.3(NF2): c.1701C> G (p.Asp567Glu)
|
single nucleotide variant |
Uncertain significance |
rs1049732514
|
22:30077554-30077554 |
22:29681565-29681565 |
28 |
NF2
|
NM_000268.3(NF2): c.1232G> A (p.Arg411His)
|
single nucleotide variant |
Uncertain significance |
rs201214090
|
22:30069367-30069367 |
22:29673378-29673378 |
29 |
SMARCB1
|
NM_003073.5(SMARCB1): c.-149C> T
|
single nucleotide variant |
Uncertain significance |
rs886057282
|
22:24129208-24129208 |
22:23787021-23787021 |
30 |
SMARCB1
|
NM_003073.5(SMARCB1): c.-17C> T
|
single nucleotide variant |
Uncertain significance |
rs372777519
|
22:24129340-24129340 |
22:23787153-23787153 |
31 |
SMARCB1
|
NM_003073.5(SMARCB1): c.987-4G> C
|
single nucleotide variant |
Uncertain significance |
rs745773662
|
22:24175755-24175755 |
22:23833568-23833568 |
32 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*279G> A
|
single nucleotide variant |
Uncertain significance |
rs886057287
|
22:24176646-24176646 |
22:23834459-23834459 |
33 |
SMARCB1
|
NM_003073.5(SMARCB1): c.-107A> G
|
single nucleotide variant |
Uncertain significance |
rs886057284
|
22:24129250-24129250 |
22:23787063-23787063 |
34 |
SMARCB1
|
NM_003073.5(SMARCB1): c.607G> A (p.Ala203Thr)
|
single nucleotide variant |
Uncertain significance |
rs762962010
|
22:24145588-24145588 |
22:23803401-23803401 |
35 |
SMARCB1
|
NM_003073.5(SMARCB1): c.628+13C> T
|
single nucleotide variant |
Likely benign |
rs184021903
|
22:24145622-24145622 |
22:23803435-23803435 |
36 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*17C> T
|
single nucleotide variant |
Likely benign |
rs372348692
|
22:24176384-24176384 |
22:23834197-23834197 |
37 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*293C> T
|
single nucleotide variant |
Likely benign |
rs754865420
|
22:24176660-24176660 |
22:23834473-23834473 |
38 |
SMARCB1
|
NM_003073.5(SMARCB1): c.-115C> T
|
single nucleotide variant |
Likely benign |
rs551328283
|
22:24129242-24129242 |
22:23787055-23787055 |
39 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*15C> A
|
single nucleotide variant |
Likely benign |
rs369400289
|
22:24176382-24176382 |
22:23834195-23834195 |
40 |
SMARCB1
|
NM_003073.5(SMARCB1): c.1143G> C (p.Thr381=)
|
single nucleotide variant |
Likely benign |
rs750187119
|
22:24176352-24176352 |
22:23834165-23834165 |
41 |
SMARCB1
|
NM_003073.5(SMARCB1): c.362+7C> T
|
single nucleotide variant |
Benign/Likely benign |
rs34746244
|
22:24135882-24135882 |
22:23793695-23793695 |
42 |
SMARCB1
|
NM_003073.5(SMARCB1): c.897G> A (p.Ser299=)
|
single nucleotide variant |
Benign |
rs2229354
|
22:24167513-24167513 |
22:23825326-23825326 |
43 |
SMARCB1
|
NM_003073.5(SMARCB1): c.-117C> T
|
single nucleotide variant |
Benign |
rs11090285
|
22:24129240-24129240 |
22:23787053-23787053 |
44 |
SMARCB1
|
NM_003073.5(SMARCB1): c.*116dup
|
duplication |
Benign |
rs397897183
|
22:24176483-24176483 |
22:23834296-23834296 |