Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
26028 chr22 29658210 T G
c.621T>G
p.Tyr207Ter
NF2
- 4.0
B
21966 chr22 29658244 G A
c.655G>A
p.Val219Met
NF2
3.5
B
32610 chr22 29658265 G T
c.675+1G>T
p.?
NF2
- 4.0
B
21736 chr22 29658270 TTGAAA T
c.675+7_675+11del
-
NF2
- 3.0
B
21737 chr22 29658276 C G
c.675+12C>G
-
NF2
- 3.0
B
16413 chr22 29661188 TC T
c.676-16del
-
NF2
- 3.0
B
34124 chr22 29661280 A AC
c.756dup
p.Lys253GlnfsTer8
NF2
- 4.0
B
3829 chr22 29661285 CAA C
c.757_758del
p.Lys253AspfsTer7
NF2
- 4.0
B
1425 chr22 29661296 TC T
c.770del
p.Pro257ArgfsTer39
NF2
- 4.0
B
18350 chr22 29661302 GGAAT G
c.777_780del
p.Asn259LysfsTer36
NF2
- 4.0
B
2583 chr22 29661313 C T
c.784C>T
p.Arg262Ter
NF2
4.5
B
26049 chr22 29661334 A T
c.805A>T
p.Lys269Ter
NF2
- 4.0
B
10953 chr22 29661340 G T
c.810+1G>T
p.?
NF2
- 3.5
B
27226 chr22 29661341 T C
c.810+2T>C
p.?
NF2
4.0
B
17018 chr22 29664970 GTTCTGCTTCATTCTTCCAGTTTACTATTAA G
c.811-19_821del
p.?
NF2
- 4.0
B
8979 chr22 29664983 C T
c.811-7C>T
-
NF2
- 3.0
B
35374 chr22 29664991 T G
c.812T>G
p.Phe271Cys
NF2
3.0
B
13559 chr22 29665042 C G
c.863C>G
p.Ser288Ter
NF2
4.5
B
18358 chr22 29665065 G C
c.885+1G>C
p.?
NF2
- 4.0
B
27235 chr22 29668381 A T
c.934A>T
p.Lys312Ter
NF2
- 4.0
B