1 |
CREBBP
|
NM_004380.2(CREBBP): c.406C> T (p.Gln136Ter)
|
single nucleotide variant |
Pathogenic |
rs121434624
|
GRCh37 |
Chromosome 16, 3900690: 3900690 |
2 |
CREBBP
|
NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter)
|
single nucleotide variant |
Pathogenic |
rs121434625
|
GRCh37 |
Chromosome 16, 3843534: 3843534 |
3 |
CREBBP
|
NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro)
|
single nucleotide variant |
Pathogenic |
rs121434626
|
GRCh37 |
Chromosome 16, 3790400: 3790400 |
4 |
CREBBP
|
CREBBP, 2-BP DEL, NT5222
|
deletion |
Pathogenic |
|
|
|
5 |
CREBBP
|
NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys)
|
single nucleotide variant |
Pathogenic |
rs28937315
|
GRCh37 |
Chromosome 16, 3807895: 3807895 |
6 |
CREBBP
|
NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys)
|
single nucleotide variant |
Pathogenic |
rs267606752
|
GRCh37 |
Chromosome 16, 3799632: 3799632 |
7 |
CREBBP
|
CREBBP, IVS21, A-T, -2
|
single nucleotide variant |
Pathogenic |
|
|
|
8 |
CREBBP
|
NM_004380.2(CREBBP): c.3982+1G> A
|
single nucleotide variant |
Pathogenic |
rs398124145
|
GRCh37 |
Chromosome 16, 3794894: 3794894 |
9 |
CREBBP
|
NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del)
|
deletion |
Likely pathogenic |
rs587783511
|
GRCh37 |
Chromosome 16, 3778877: 3778918 |
10 |
CREBBP
|
NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter)
|
single nucleotide variant |
Pathogenic |
rs587783510
|
GRCh37 |
Chromosome 16, 3778960: 3778960 |
11 |
CREBBP
|
NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs)
|
deletion |
Pathogenic |
rs587783508
|
GRCh37 |
Chromosome 16, 3779179: 3779179 |
12 |
CREBBP
|
NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs)
|
deletion |
Pathogenic |
rs587783506
|
GRCh37 |
Chromosome 16, 3779204: 3779214 |
13 |
CREBBP
|
NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs)
|
deletion |
Pathogenic |
rs587783507
|
GRCh37 |
Chromosome 16, 3779211: 3779211 |
14 |
CREBBP
|
NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter)
|
single nucleotide variant |
Pathogenic |
rs587783505
|
GRCh37 |
Chromosome 16, 3779227: 3779227 |
15 |
CREBBP
|
NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro)
|
single nucleotide variant |
Likely pathogenic |
rs587783503
|
GRCh37 |
Chromosome 16, 3781315: 3781315 |
16 |
CREBBP
|
NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del)
|
deletion |
Likely pathogenic |
rs587783502
|
GRCh37 |
Chromosome 16, 3781324: 3781326 |
17 |
CREBBP
|
NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs)
|
deletion |
Pathogenic |
rs587783500
|
GRCh37 |
Chromosome 16, 3781875: 3781875 |
18 |
CREBBP
|
NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs)
|
deletion |
Pathogenic |
rs587783499
|
GRCh37 |
Chromosome 16, 3786076: 3786076 |
19 |
CREBBP
|
NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys)
|
single nucleotide variant |
Pathogenic |
rs587783497
|
GRCh37 |
Chromosome 16, 3786703: 3786703 |
20 |
CREBBP
|
NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys)
|
single nucleotide variant |
Likely pathogenic |
rs587783496
|
GRCh37 |
Chromosome 16, 3786766: 3786766 |
21 |
CREBBP
|
NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp)
|
single nucleotide variant |
Pathogenic |
rs587783495
|
GRCh37 |
Chromosome 16, 3786767: 3786767 |
22 |
CREBBP
|
NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter)
|
single nucleotide variant |
Pathogenic |
rs147688139
|
GRCh37 |
Chromosome 16, 3786813: 3786813 |
23 |
CREBBP
|
NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly)
|
single nucleotide variant |
Likely pathogenic |
rs587783494
|
GRCh37 |
Chromosome 16, 3788578: 3788578 |
24 |
CREBBP
|
NM_004380.2(CREBBP): c.4281-11C> G
|
single nucleotide variant |
Likely pathogenic |
rs587783493
|
GRCh37 |
Chromosome 16, 3788684: 3788684 |
25 |
CREBBP
|
NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser)
|
single nucleotide variant |
Likely pathogenic |
rs587783492
|
GRCh37 |
Chromosome 16, 3789633: 3789633 |
26 |
CREBBP
|
NM_004380.2(CREBBP): c.4133+1G> A
|
single nucleotide variant |
Pathogenic |
rs587783491
|
GRCh37 |
Chromosome 16, 3790399: 3790399 |
27 |
CREBBP
|
NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter)
|
single nucleotide variant |
Pathogenic |
rs587783490
|
GRCh37 |
Chromosome 16, 3790455: 3790455 |
28 |
CREBBP
|
NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter)
|
single nucleotide variant |
Pathogenic |
rs587783489
|
GRCh37 |
Chromosome 16, 3790488: 3790488 |
29 |
CREBBP
|
NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro)
|
single nucleotide variant |
Likely pathogenic |
rs587783488
|
GRCh37 |
Chromosome 16, 3790511: 3790511 |
30 |
CREBBP
|
NM_004380.2(CREBBP): c.3983-2A> G
|
single nucleotide variant |
Pathogenic |
rs587783486
|
GRCh37 |
Chromosome 16, 3790552: 3790552 |
31 |
CREBBP
|
NM_004380.2(CREBBP): c.3914+3G> T
|
single nucleotide variant |
Likely pathogenic |
rs587783485
|
GRCh37 |
Chromosome 16, 3795275: 3795275 |
32 |
CREBBP
|
NM_004380.2(CREBBP): c.3836+1G> A
|
single nucleotide variant |
Pathogenic |
rs200782888
|
GRCh37 |
Chromosome 16, 3799627: 3799627 |
33 |
CREBBP
|
NM_004380.2(CREBBP): c.3779+1G> A
|
single nucleotide variant |
Pathogenic |
rs587783483
|
GRCh37 |
Chromosome 16, 3801726: 3801726 |
34 |
CREBBP
|
NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter)
|
single nucleotide variant |
Pathogenic |
rs587783482
|
GRCh37 |
Chromosome 16, 3807374: 3807374 |
35 |
CREBBP
|
NM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys)
|
single nucleotide variant |
Likely pathogenic |
rs587783481
|
GRCh37 |
Chromosome 16, 3807919: 3807919 |
36 |
CREBBP
|
NM_004380.2(CREBBP): c.3369+1G> T
|
single nucleotide variant |
Pathogenic |
rs587783480
|
GRCh37 |
Chromosome 16, 3808854: 3808854 |
37 |
CREBBP
|
NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter)
|
single nucleotide variant |
Pathogenic |
rs587783479
|
GRCh37 |
Chromosome 16, 3808914: 3808914 |
38 |
CREBBP
|
NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter)
|
single nucleotide variant |
Pathogenic |
rs587783475
|
GRCh37 |
Chromosome 16, 3820660: 3820660 |
39 |
CREBBP
|
NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs)
|
deletion |
Pathogenic |
rs587783473
|
GRCh37 |
Chromosome 16, 3820844: 3820845 |
40 |
CREBBP
|
NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter)
|
single nucleotide variant |
Pathogenic |
rs587783471
|
GRCh37 |
Chromosome 16, 3820916: 3820916 |
41 |
CREBBP
|
NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs)
|
deletion |
Pathogenic |
rs587783470
|
GRCh37 |
Chromosome 16, 3827649: 3827650 |
42 |
CREBBP
|
NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs)
|
deletion |
Pathogenic |
rs587783469
|
GRCh37 |
Chromosome 16, 3828099: 3828099 |
43 |
CREBBP
|
NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs)
|
deletion |
Pathogenic |
rs587783467
|
GRCh37 |
Chromosome 16, 3830735: 3830735 |
44 |
CREBBP
|
NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs)
|
deletion |
Pathogenic |
rs587783465
|
GRCh37 |
Chromosome 16, 3831291: 3831291 |
45 |
CREBBP
|
NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter)
|
single nucleotide variant |
Pathogenic |
rs587783464
|
GRCh37 |
Chromosome 16, 3842042: 3842042 |
46 |
CREBBP
|
NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter)
|
single nucleotide variant |
Pathogenic |
rs587783463
|
GRCh37 |
Chromosome 16, 3842055: 3842055 |
47 |
CREBBP
|
NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter)
|
single nucleotide variant |
Pathogenic |
rs587783461
|
GRCh37 |
Chromosome 16, 3843447: 3843447 |
48 |
CREBBP
|
NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter)
|
single nucleotide variant |
Pathogenic |
rs587783460
|
GRCh37 |
Chromosome 16, 3843540: 3843540 |
49 |
CREBBP
|
NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter)
|
single nucleotide variant |
Pathogenic |
rs587783516
|
GRCh37 |
Chromosome 16, 3860626: 3860626 |
50 |
CREBBP
|
NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter)
|
single nucleotide variant |
Pathogenic |
rs587783509
|
GRCh37 |
Chromosome 16, 3900498: 3900498 |
51 |
CREBBP
|
NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter)
|
single nucleotide variant |
Pathogenic |
rs587783478
|
GRCh37 |
Chromosome 16, 3900780: 3900780 |
52 |
CREBBP
|
NM_004380.2(CREBBP): c.299delG (p.Gly100Valfs)
|
deletion |
Pathogenic |
rs587783477
|
GRCh37 |
Chromosome 16, 3900797: 3900797 |
53 |
CREBBP
|
NM_004380.2(CREBBP): c.286C> T (p.Gln96Ter)
|
single nucleotide variant |
Pathogenic |
rs587783476
|
GRCh37 |
Chromosome 16, 3900810: 3900810 |
54 |
CREBBP
|
NM_004380.2(CREBBP): c.86-2A> C
|
single nucleotide variant |
Pathogenic |
rs587783515
|
GRCh37 |
Chromosome 16, 3901012: 3901012 |
55 |
CREBBP
|
NM_004380.2(CREBBP): c.37A> G (p.Lys13Glu)
|
single nucleotide variant |
Likely pathogenic |
rs587783484
|
GRCh37 |
Chromosome 16, 3929881: 3929881 |
56 |
CREBBP
|
NM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs)
|
deletion |
Pathogenic |
rs794727124
|
GRCh37 |
Chromosome 16, 3820766: 3820766 |
57 |
CREBBP
|
NM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs)
|
deletion |
Pathogenic |
rs794727391
|
GRCh38 |
Chromosome 16, 3740539: 3740539 |
58 |
CREBBP
|
NM_004380.2(CREBBP): c.5614A> G (p.Met1872Val)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs797045037
|
GRCh37 |
Chromosome 16, 3779434: 3779434 |
59 |
CREBBP
|
NM_004380.2(CREBBP): c.(?_-23)_85+?del
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 16, 3879832: 3879939 |
60 |
CREBBP
|
NM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs)
|
duplication |
Pathogenic |
rs797045500
|
GRCh38 |
Chromosome 16, 3728630: 3728652 |
61 |
CREBBP
|
NM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs)
|
deletion |
Pathogenic |
rs797045499
|
GRCh37 |
Chromosome 16, 3778932: 3778941 |
62 |
CREBBP
|
NM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs)
|
insertion |
Pathogenic |
rs797045498
|
GRCh38 |
Chromosome 16, 3729110: 3729111 |
63 |
CREBBP
|
NM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs)
|
duplication |
Pathogenic |
rs797045497
|
GRCh37 |
Chromosome 16, 3779211: 3779211 |
64 |
CREBBP
|
NM_004380.2(CREBBP): c.5412C> A (p.His1804Gln)
|
single nucleotide variant |
Likely pathogenic |
rs797045496
|
GRCh37 |
Chromosome 16, 3779636: 3779636 |
65 |
CREBBP
|
NM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter)
|
single nucleotide variant |
Pathogenic |
rs797045495
|
GRCh37 |
Chromosome 16, 3781338: 3781338 |
66 |
CREBBP
|
NM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser)
|
single nucleotide variant |
Likely pathogenic |
rs797045494
|
GRCh38 |
Chromosome 16, 3738672: 3738672 |
67 |
CREBBP
|
NM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro)
|
single nucleotide variant |
Likely pathogenic |
rs797045492
|
GRCh37 |
Chromosome 16, 3807929: 3807929 |
68 |
CREBBP
|
NM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs)
|
duplication |
Pathogenic |
rs797045490
|
GRCh38 |
Chromosome 16, 3757957: 3757957 |
69 |
CREBBP
|
NM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter)
|
single nucleotide variant |
Pathogenic |
rs797045489
|
GRCh38 |
Chromosome 16, 3757982: 3757982 |
70 |
CREBBP
|
NM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs)
|
indel |
Pathogenic |
rs797045488
|
GRCh38 |
Chromosome 16, 3767885: 3767893 |
71 |
CREBBP
|
NM_004380.2(CREBBP): c.2810_2811insC (p.Ser938Valfs)
|
duplication |
Pathogenic |
rs797045485
|
GRCh37 |
Chromosome 16, 3820641: 3820641 |
72 |
CREBBP
|
NM_004380.2(CREBBP): c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs)
|
indel |
Pathogenic |
rs797045484
|
GRCh38 |
Chromosome 16, 3770760: 3770771 |
73 |
CREBBP
|
NM_004380.2(CREBBP): c.2178_2179insC (p.Met727Hisfs)
|
duplication |
Pathogenic |
rs797045483
|
GRCh37 |
Chromosome 16, 3824675: 3824675 |
74 |
CREBBP
|
NM_004380.2(CREBBP): c.827_828dupTT (p.Gly277Leufs)
|
duplication |
Pathogenic |
rs797045502
|
GRCh38 |
Chromosome 16, 3810750: 3810751 |
75 |
CREBBP
|
NM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs)
|
duplication |
Pathogenic |
rs797045491
|
GRCh37 |
Chromosome 16, 3900747: 3900748 |
76 |
CREBBP
|
NM_004380.2(CREBBP): c.282dupC (p.Val95Argfs)
|
duplication |
Pathogenic |
rs797045486
|
GRCh37 |
Chromosome 16, 3900814: 3900814 |
77 |
CREBBP
|
NM_004380.2(CREBBP): c.86-1G> T
|
single nucleotide variant |
Pathogenic |
rs11644721
|
GRCh37 |
Chromosome 16, 3901011: 3901011 |
78 |
CREBBP
|
NM_004380.2(CREBBP): c.2T> A (p.Met1Lys)
|
single nucleotide variant |
Pathogenic |
rs797045487
|
GRCh37 |
Chromosome 16, 3929916: 3929916 |
79 |
CREBBP
|
NM_004380.2(CREBBP): c.4134-1G> T
|
single nucleotide variant |
Likely pathogenic |
rs886041048
|
GRCh38 |
Chromosome 16, 3739725: 3739725 |
80 |
CREBBP
|
NG_009873.1: g.(?_5000)_(160068_?)del
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 16, 3725053: 3880121 |
81 |
CREBBP
|
NM_004380.2(CREBBP): c.6324C> A (p.Tyr2108Ter)
|
single nucleotide variant |
Likely pathogenic |
rs199821421
|
GRCh37 |
Chromosome 16, 3778724: 3778724 |
82 |
CREBBP
|
NM_004380.2(CREBBP): c.3914+1G> T
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 16, 3795277: 3795277 |
83 |
CREBBP
|
NM_004380.2(CREBBP): c.1237C> T (p.Arg413Ter)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 16, 3842075: 3842075 |
84 |
CREBBP
|
NM_004380.2(CREBBP): c.6275C> G (p.Ser2092Ter)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 16, 3778773: 3778773 |
85 |
CREBBP
|
NM_004380.2(CREBBP): c.5694_5703delCACACCCCAG (p.Ser1898Argfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 16, 3779345: 3779354 |
86 |
CREBBP
|
NM_004380.2(CREBBP): c.4644_4645delGT (p.Leu1549Argfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 16, 3786120: 3786121 |
87 |
CREBBP
|
NM_004380.2(CREBBP): c.508C> T (p.Gln170Ter)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 16, 3850587: 3850587 |
88 |
CREBBP
|
NM_004380.2(CREBBP): c.472delC (p.Gln158Lysfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 16, 3900624: 3900624 |
89 |
CREBBP
|
NM_004380.2(CREBBP): c.1447C> T (p.Arg483Ter)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 16, 3832811: 3832811 |
90 |
EP300
|
NM_001429.3(EP300): c.3262-2A> G
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 22, 41157167: 41157167 |