1 |
PAX6
|
NM_000280.4(PAX6): c.382C> T (p.Arg128Cys)
|
single nucleotide variant |
Pathogenic |
rs121907918
|
GRCh37 |
Chromosome 11, 31822380: 31822380 |
2 |
PAX6
|
NM_000280.4(PAX6): c.382C> T (p.Arg128Cys)
|
single nucleotide variant |
Pathogenic |
rs121907918
|
GRCh38 |
Chromosome 11, 31800832: 31800832 |
3 |
PAX6
|
NM_000280.4(PAX6): c.10+5G> C
|
single nucleotide variant |
Pathogenic |
rs587776572
|
GRCh38 |
Chromosome 11, 31806397: 31806397 |
4 |
PAX6
|
NM_000280.4(PAX6): c.10+5G> C
|
single nucleotide variant |
Pathogenic |
rs587776572
|
GRCh37 |
Chromosome 11, 31827945: 31827945 |
5 |
PAX6
|
NM_000280.4(PAX6): c.-129+9G> A
|
single nucleotide variant |
Benign/Likely benign |
rs56139994
|
GRCh37 |
Chromosome 11, 31832367: 31832367 |
6 |
PAX6
|
NM_001604.5(PAX6): c.808-12C> T
|
single nucleotide variant |
Benign |
rs667773
|
GRCh37 |
Chromosome 11, 31815362: 31815362 |
7 |
PAX6
|
NM_001604.5(PAX6): c.808-12C> T
|
single nucleotide variant |
Benign |
rs667773
|
GRCh38 |
Chromosome 11, 31793814: 31793814 |
8 |
PAX6
|
NM_000280.4(PAX6): c.1137A> C (p.Thr379=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143477661
|
GRCh37 |
Chromosome 11, 31812304: 31812304 |
9 |
PAX6
|
NM_000280.4(PAX6): c.1137A> C (p.Thr379=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs143477661
|
GRCh38 |
Chromosome 11, 31790756: 31790756 |
10 |
PAX6
|
NM_000280.4(PAX6): c.*4627A> C
|
single nucleotide variant |
Likely benign |
rs140971065
|
GRCh37 |
Chromosome 11, 31806855: 31806855 |
11 |
PAX6
|
NM_000280.4(PAX6): c.*4627A> C
|
single nucleotide variant |
Likely benign |
rs140971065
|
GRCh38 |
Chromosome 11, 31785307: 31785307 |
12 |
PAX6
|
NM_000280.4(PAX6): c.*4076A> C
|
single nucleotide variant |
Uncertain significance |
rs886048183
|
GRCh37 |
Chromosome 11, 31807406: 31807406 |
13 |
PAX6
|
NM_000280.4(PAX6): c.*4076A> C
|
single nucleotide variant |
Uncertain significance |
rs886048183
|
GRCh38 |
Chromosome 11, 31785858: 31785858 |
14 |
PAX6
|
NM_000280.4(PAX6): c.*4003G> T
|
single nucleotide variant |
Uncertain significance |
rs886048184
|
GRCh37 |
Chromosome 11, 31807479: 31807479 |
15 |
PAX6
|
NM_000280.4(PAX6): c.*4003G> T
|
single nucleotide variant |
Uncertain significance |
rs886048184
|
GRCh38 |
Chromosome 11, 31785931: 31785931 |
16 |
PAX6
|
NM_000280.4(PAX6): c.*3318A> G
|
single nucleotide variant |
Likely benign |
rs371438311
|
GRCh37 |
Chromosome 11, 31808164: 31808164 |
17 |
PAX6
|
NM_000280.4(PAX6): c.*3318A> G
|
single nucleotide variant |
Likely benign |
rs371438311
|
GRCh38 |
Chromosome 11, 31786616: 31786616 |
18 |
PAX6
|
NM_000280.4(PAX6): c.*2901T> C
|
single nucleotide variant |
Likely benign |
rs542906080
|
GRCh37 |
Chromosome 11, 31808581: 31808581 |
19 |
PAX6
|
NM_000280.4(PAX6): c.*2901T> C
|
single nucleotide variant |
Likely benign |
rs542906080
|
GRCh38 |
Chromosome 11, 31787033: 31787033 |
20 |
PAX6
|
NM_000280.4(PAX6): c.*2705_*2707delAGC
|
deletion |
Uncertain significance |
rs886048189
|
GRCh37 |
Chromosome 11, 31808775: 31808777 |
21 |
PAX6
|
NM_000280.4(PAX6): c.*2705_*2707delAGC
|
deletion |
Uncertain significance |
rs886048189
|
GRCh38 |
Chromosome 11, 31787227: 31787229 |
22 |
PAX6
|
NM_000280.4(PAX6): c.*1521C> T
|
single nucleotide variant |
Uncertain significance |
rs886048196
|
GRCh37 |
Chromosome 11, 31809961: 31809961 |
23 |
PAX6
|
NM_000280.4(PAX6): c.*1521C> T
|
single nucleotide variant |
Uncertain significance |
rs886048196
|
GRCh38 |
Chromosome 11, 31788413: 31788413 |
24 |
PAX6
|
NM_000280.4(PAX6): c.*1394A> C
|
single nucleotide variant |
Uncertain significance |
rs776894983
|
GRCh37 |
Chromosome 11, 31810088: 31810088 |
25 |
PAX6
|
NM_000280.4(PAX6): c.*1394A> C
|
single nucleotide variant |
Uncertain significance |
rs776894983
|
GRCh38 |
Chromosome 11, 31788540: 31788540 |
26 |
PAX6
|
NM_000280.4(PAX6): c.*1287A> T
|
single nucleotide variant |
Likely benign |
rs576321279
|
GRCh37 |
Chromosome 11, 31810195: 31810195 |
27 |
PAX6
|
NM_000280.4(PAX6): c.*1287A> T
|
single nucleotide variant |
Likely benign |
rs576321279
|
GRCh38 |
Chromosome 11, 31788647: 31788647 |
28 |
PAX6
|
NM_000280.4(PAX6): c.*1184A> T
|
single nucleotide variant |
Benign |
rs1506
|
GRCh37 |
Chromosome 11, 31810298: 31810298 |
29 |
PAX6
|
NM_000280.4(PAX6): c.*1184A> T
|
single nucleotide variant |
Benign |
rs1506
|
GRCh38 |
Chromosome 11, 31788750: 31788750 |
30 |
PAX6
|
NM_000280.4(PAX6): c.*1063A> G
|
single nucleotide variant |
Benign |
rs117590302
|
GRCh37 |
Chromosome 11, 31810419: 31810419 |
31 |
PAX6
|
NM_000280.4(PAX6): c.*1063A> G
|
single nucleotide variant |
Benign |
rs117590302
|
GRCh38 |
Chromosome 11, 31788871: 31788871 |
32 |
PAX6
|
NM_000280.4(PAX6): c.327G> A (p.Glu109=)
|
single nucleotide variant |
Benign/Likely benign |
rs114384476
|
GRCh37 |
Chromosome 11, 31823139: 31823139 |
33 |
PAX6
|
NM_000280.4(PAX6): c.327G> A (p.Glu109=)
|
single nucleotide variant |
Benign/Likely benign |
rs114384476
|
GRCh38 |
Chromosome 11, 31801591: 31801591 |
34 |
PAX6
|
NM_000280.4(PAX6): c.142-8C> T
|
single nucleotide variant |
Uncertain significance |
rs886048203
|
GRCh37 |
Chromosome 11, 31823332: 31823332 |
35 |
PAX6
|
NM_000280.4(PAX6): c.142-8C> T
|
single nucleotide variant |
Uncertain significance |
rs886048203
|
GRCh38 |
Chromosome 11, 31801784: 31801784 |
36 |
PAX6
|
NM_000280.4(PAX6): c.-316-8C> G
|
single nucleotide variant |
Likely benign |
rs566281941
|
GRCh37 |
Chromosome 11, 31832571: 31832571 |
37 |
PAX6
|
NM_000280.4(PAX6): c.-129+9G> A
|
single nucleotide variant |
Benign/Likely benign |
rs56139994
|
GRCh38 |
Chromosome 11, 31810819: 31810819 |
38 |
PAX6
|
NM_000280.4(PAX6): c.-316-8C> G
|
single nucleotide variant |
Likely benign |
rs566281941
|
GRCh38 |
Chromosome 11, 31811023: 31811023 |
39 |
PAX6
|
NM_000280.4(PAX6): c.*5108A> G
|
single nucleotide variant |
Likely benign |
rs146579778
|
GRCh37 |
Chromosome 11, 31806374: 31806374 |
40 |
PAX6
|
NM_000280.4(PAX6): c.*5108A> G
|
single nucleotide variant |
Likely benign |
rs146579778
|
GRCh38 |
Chromosome 11, 31784826: 31784826 |
41 |
PAX6
|
NM_000280.4(PAX6)
|
indel |
Uncertain significance |
rs886048180
|
GRCh37 |
Chromosome 11, 31806561: 31806563 |
42 |
PAX6
|
NM_000280.4(PAX6)
|
indel |
Uncertain significance |
rs886048180
|
GRCh38 |
Chromosome 11, 31785013: 31785015 |
43 |
PAX6
|
NM_000280.4(PAX6): c.*4696G> C
|
single nucleotide variant |
Likely benign |
rs180780893
|
GRCh37 |
Chromosome 11, 31806786: 31806786 |
44 |
PAX6
|
NM_000280.4(PAX6): c.*4696G> C
|
single nucleotide variant |
Likely benign |
rs180780893
|
GRCh38 |
Chromosome 11, 31785238: 31785238 |
45 |
PAX6
|
NM_000280.4(PAX6): c.*4599T> G
|
single nucleotide variant |
Likely benign |
rs185968715
|
GRCh37 |
Chromosome 11, 31806883: 31806883 |
46 |
PAX6
|
NM_000280.4(PAX6): c.*4599T> G
|
single nucleotide variant |
Likely benign |
rs185968715
|
GRCh38 |
Chromosome 11, 31785335: 31785335 |
47 |
PAX6
|
NM_000280.4(PAX6): c.*4361T> C
|
single nucleotide variant |
Uncertain significance |
rs886048181
|
GRCh37 |
Chromosome 11, 31807121: 31807121 |
48 |
PAX6
|
NM_000280.4(PAX6): c.*4361T> C
|
single nucleotide variant |
Uncertain significance |
rs886048181
|
GRCh38 |
Chromosome 11, 31785573: 31785573 |
49 |
PAX6
|
NM_000280.4(PAX6): c.*3958G> A
|
single nucleotide variant |
Benign |
rs3026401
|
GRCh37 |
Chromosome 11, 31807524: 31807524 |
50 |
PAX6
|
NM_000280.4(PAX6): c.*3958G> A
|
single nucleotide variant |
Benign |
rs3026401
|
GRCh38 |
Chromosome 11, 31785976: 31785976 |