MCID: RBN021
MIFTS: 49

Rubinstein-Taybi Syndrome 1

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases, Rare diseases, Mental diseases, Smell/Taste diseases

Aliases & Classifications for Rubinstein-Taybi Syndrome 1

MalaCards integrated aliases for Rubinstein-Taybi Syndrome 1:

Name: Rubinstein-Taybi Syndrome 1 57 75
Broad Thumb-Hallux Syndrome 57 75
Rubinstein Syndrome 57 75
Rsts1 57 75
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation 57
Broad Thumbs Great Toes Characteristic Facies and Mental Retardation 75
Rubinstein-Taybi Syndrome Due to Crebbp Mutations 59
Rubinstein-Taybi Syndrome, Type 1 40
Rubinstein-Taybi Syndrome 73
Rsts 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
incidence of 1 in 100,000 to 125,000 at birth
de novo mutation in most cases
truncating mutations in crebbp found in 10% of patients


HPO:

32
rubinstein-taybi syndrome 1:
Onset and clinical course variable expressivity
Inheritance heterogeneous autosomal dominant inheritance sporadic


Classifications:



Summaries for Rubinstein-Taybi Syndrome 1

OMIM : 57 Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006). Floating-Harbor syndrome (136140), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (611421), a coactivator for CREBBP. (180849)

MalaCards based summary : Rubinstein-Taybi Syndrome 1, also known as broad thumb-hallux syndrome, is related to chromosome 16p13.3 deletion syndrome, proximal and rubinstein-taybi syndrome 2, and has symptoms including constipation and seizures. An important gene associated with Rubinstein-Taybi Syndrome 1 is CREBBP (CREB Binding Protein), and among its related pathways/superpathways are NF-KappaB Family Pathway and Regulation of IFNA signaling. The drugs Valproic Acid and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone, and related phenotypes are low-set ears and pectus excavatum

UniProtKB/Swiss-Prot : 75 Rubinstein-Taybi syndrome 1: A disorder characterized by craniofacial abnormalities, postnatal growth deficiency, broad thumbs, broad big toes, mental retardation and a propensity for development of malignancies.

Related Diseases for Rubinstein-Taybi Syndrome 1

Diseases in the Rubinstein Taybi Like Syndrome family:

Rubinstein-Taybi Syndrome 1 Rubinstein-Taybi Syndrome 2

Diseases related to Rubinstein-Taybi Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 11, show less)
# Related Disease Score Top Affiliating Genes
1 chromosome 16p13.3 deletion syndrome, proximal 31.7 CREBBP EP300
2 rubinstein-taybi syndrome 2 11.3
3 neonatal leukemia 9.6 CREBBP EP300
4 human t-cell leukemia virus type 2 9.6 CREBBP EP300
5 human t-cell leukemia virus type 1 9.6 CREBBP EP300
6 leukemia, acute monocytic 9.5 CREBBP EP300
7 bladder squamous cell carcinoma 9.5 CREBBP EP300
8 hypoxia 9.4 CREBBP EP300
9 hematologic cancer 9.3 CREBBP EP300
10 t-cell leukemia 9.2 CREBBP EP300
11 amyotrophic lateral sclerosis 1 9.0 CREBBP EP300

Graphical network of the top 20 diseases related to Rubinstein-Taybi Syndrome 1:



Diseases related to Rubinstein-Taybi Syndrome 1

Symptoms & Phenotypes for Rubinstein-Taybi Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss
recurrent otitis

Head And Neck Head:
frontal bossing
microcephaly
large anterior fontanel
late closure of fontanel

Abdomen Gastrointestinal:
constipation

Head And Neck Mouth:
narrow palate
high-arched palate
small opening of the mouth

Skeletal:
delayed skeletal maturation
joint hypermobility

Growth Height:
short stature
average adult male height 153 cm
average adult female height 147 cm

Cardiovascular Vascular:
patent ductus arteriosus
capillary hemangiomas

Growth Other:
postnatal growth retardation

Skin Nails Hair Skin:
capillary hemangiomas
single transverse palmar creases
cafe-au-lait spots
keloid formation in surgical scars

Skeletal Limbs:
patellar dislocation

Skin Nails Hair Hair:
hirsutism

Head And Neck Nose:
deviated nasal septum
broad nasal bridge
beaked nose

Skeletal Skull:
parietal foramina
large foramen magnum

Growth Weight:
obesity after puberty

Skeletal Pelvis:
small, flared iliac wings

Laboratory Abnormalities:
ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by fish
a small minority of patients have translocations and inversions involving 16p13.3

Neurologic Central Nervous System:
agenesis of corpus callosum
seizures
hyperreflexia
poor coordination
hypotonia
more
Head And Neck Eyes:
ptosis
strabismus
glaucoma
nasolacrimal duct obstruction
long eyelashes
more
Skeletal Spine:
scoliosis
spina bifida occulta

Respiratory:
recurrent respiratory infections

Skeletal Feet:
pes planus
broad great toes
plantar crease between first and second toes

Head And Neck Face:
micrognathia
retrognathia
low anterior hairline
hypoplastic maxilla
grimacing or unusual smile with almost closing of the eyes

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum

Head And Neck Teeth:
dental crowding
enamel hypoplasia
talon cusps
crossbite
screwdriver permanent incisors
more
Immunology:
recurrent infections
polysaccharide antibody response defect

Skeletal Hands:
syndactyly
polydactyly
fifth finger clinodactyly
single transverse palmar creases
broad thumbs with radial angulation
more
Neurologic Behavioral Psychiatric Manifestations:
short attention span
good social contacts
labile mood

Cardiovascular Heart:
atrial septal defects
ventricular septal defects

Chest Ribs Sternum Clavicles And Scapulae:
sternal anomalies

Neoplasia:
increased risk of tumor formation, especially of the head
increased risk of leukemia


Clinical features from OMIM:

180849

Human phenotypes related to Rubinstein-Taybi Syndrome 1:

32 (showing 117, show less)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 pectus excavatum 32 HP:0000767
3 agenesis of corpus callosum 32 HP:0001274
4 frontal bossing 32 HP:0002007
5 high palate 32 HP:0000218
6 ptosis 32 HP:0000508
7 intellectual disability 32 HP:0001249
8 seizures 32 HP:0001250
9 muscular hypotonia 32 HP:0001252
10 hyperreflexia 32 HP:0001347
11 failure to thrive 32 HP:0001508
12 constipation 32 HP:0002019
13 eeg abnormality 32 HP:0002353
14 scoliosis 32 HP:0002650
15 narrow palate 32 HP:0000189
16 hearing impairment 32 HP:0000365
17 cataract 32 HP:0000518
18 dental malocclusion 32 HP:0000689
19 delayed skeletal maturation 32 HP:0002750
20 wide nasal bridge 32 HP:0000431
21 delayed speech and language development 32 HP:0000750
22 pes planus 32 HP:0001763
23 microcephaly 32 HP:0000252
24 thick eyebrow 32 HP:0000574
25 short stature 32 HP:0004322
26 broad thumb 32 HP:0011304
27 flexion contracture 32 HP:0001371
28 feeding difficulties in infancy 32 HP:0008872
29 stereotypy 32 HP:0000733
30 laryngomalacia 32 HP:0001601
31 arrhythmia 32 HP:0011675
32 micrognathia 32 HP:0000347
33 recurrent upper respiratory tract infections 32 HP:0002788
34 retrognathia 32 HP:0000278
35 patent ductus arteriosus 32 HP:0001643
36 respiratory distress 32 HP:0002098
37 epicanthus 32 HP:0000286
38 cryptorchidism 32 HP:0000028
39 autism 32 HP:0000717
40 postnatal growth retardation 32 HP:0008897
41 low posterior hairline 32 HP:0002162
42 atrial septal defect 32 HP:0001631
43 abnormality of the pinna 32 HP:0000377
44 aganglionic megacolon 32 HP:0002251
45 hypoplastic iliac wing 32 HP:0002866
46 hypospadias 32 HP:0000047
47 deeply set eye 32 HP:0000490
48 clinodactyly of the 5th finger 32 HP:0004209
49 hypoplasia of the maxilla 32 HP:0000327
50 abnormality of the kidney 32 HP:0000077
51 glaucoma 32 HP:0000501
52 papillary cystadenoma of the epididymis 32 HP:0009715
53 dental crowding 32 HP:0000678
54 joint hypermobility 32 HP:0001382
55 downslanted palpebral fissures 32 HP:0000494
56 narrow mouth 32 HP:0000160
57 joint laxity 32 HP:0001388
58 polyhydramnios 32 HP:0001561
59 ventricular septal defect 32 HP:0001629
60 patellar dislocation 32 HP:0002999
61 low anterior hairline 32 HP:0000294
62 phonophobia 32 HP:0002183
63 spina bifida occulta 32 HP:0003298
64 obstructive sleep apnea 32 HP:0002870
65 convex nasal ridge 32 HP:0000444
66 nasolacrimal duct obstruction 32 HP:0000579
67 highly arched eyebrow 32 HP:0002553
68 keloids 32 HP:0010562
69 wide anterior fontanel 32 HP:0000260
70 proptosis 32 HP:0000520
71 long eyelashes 32 HP:0000527
72 truncal obesity 32 HP:0001956
73 hyperactivity 32 HP:0000752
74 impulsivity 32 HP:0100710
75 poor coordination 32 HP:0002370
76 shawl scrotum 32 HP:0000049
77 single transverse palmar crease 32 HP:0000954
78 abnormality of the cervical spine 32 HP:0003319
79 delayed cranial suture closure 32 HP:0000270
80 avascular necrosis of the capital femoral epiphysis 32 HP:0005743
81 cafe-au-lait spot 32 HP:0000957
82 generalized hypotonia 32 HP:0001290
83 unsteady gait 32 HP:0002317
84 coloboma 32 HP:0000589
85 agoraphobia 32 HP:0000756
86 dislocated radial head 32 HP:0003083
87 hirsutism 32 HP:0001007
88 syndactyly 32 HP:0001159
89 flared iliac wings 32 HP:0002869
90 hypoplasia of dental enamel 32 HP:0006297
91 deviated nasal septum 32 HP:0004411
92 broad hallux 32 HP:0010055
93 self-mutilation 32 HP:0000742
94 prominent fingertip pads 32 HP:0001212
95 bimanual synkinesia 32 HP:0001335
96 duane anomaly 32 HP:0009921
97 short attention span 32 HP:0000736
98 facial grimacing 32 HP:0000273
99 premature thelarche 32 HP:0010314
100 polydactyly 32 HP:0010442
101 chorioretinal dystrophy 32 HP:0001135
102 abnormality of refraction 32 HP:0000539
103 parietal foramina 32 HP:0002697
104 low hanging columella 32 HP:0009765
105 bifid uterus 32 HP:0000136
106 large foramen magnum 32 HP:0002700
107 radial deviation of thumb terminal phalanx 32 HP:0005895
108 tethered cord 32 HP:0002144
109 plantar crease between first and second toes 32 HP:0008107
110 high axial triradius 32 HP:0001042
111 vascular ring 32 HP:0010775
112 talon cusp 32 HP:0011087
113 duplication of phalanx of hallux 32 HP:0010066
114 frontal upsweep of hair 32 HP:0002236
115 abnormal cornea morphology 32 HP:0000481
116 capillary hemangioma 32 HP:0005306
117 abnormal number of teeth 32 HP:0006483

UMLS symptoms related to Rubinstein-Taybi Syndrome 1:


constipation, seizures

Drugs & Therapeutics for Rubinstein-Taybi Syndrome 1

Drugs for Rubinstein-Taybi Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 9, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
2 Anticonvulsants Phase 2
3 Antimanic Agents Phase 2
4 Central Nervous System Depressants Phase 2
5 GABA Agents Phase 2
6 Histone Deacetylase Inhibitors Phase 2
7 Neurotransmitter Agents Phase 2
8 Psychotropic Drugs Phase 2
9 Tranquilizing Agents Phase 2

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
2 Resistant Starch on Glycemic Response in Older Adults Completed NCT00676767 Not Applicable

Search NIH Clinical Center for Rubinstein-Taybi Syndrome 1

Genetic Tests for Rubinstein-Taybi Syndrome 1

Anatomical Context for Rubinstein-Taybi Syndrome 1

MalaCards organs/tissues related to Rubinstein-Taybi Syndrome 1:

41
Eye, Kidney, Bone, Uterus

Publications for Rubinstein-Taybi Syndrome 1

Articles related to Rubinstein-Taybi Syndrome 1:

(showing 2, show less)
# Title Authors Year
1
Rubinstein-Taybi syndrome (broad thumb-hallux syndrome). ( 15748572 )
2004
2
Clinical quiz. Rubinstein-Taybi syndrome (synonyms: broad thumbs and great toes, characteristic facies, and mental retardation -- broad thumb-hallux syndrome). ( 11809612 )
2002

Variations for Rubinstein-Taybi Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Rubinstein-Taybi Syndrome 1:

75 (showing 17, show less)
# Symbol AA change Variation ID SNP ID
1 CREBBP p.Arg1378Pro VAR_015578 rs121434626
2 CREBBP p.Glu1278Lys VAR_035080 rs267606752
3 CREBBP p.Thr1447Ile VAR_035081
4 CREBBP p.Tyr1450His VAR_035082
5 CREBBP p.His1470Arg VAR_035083 rs797044860
6 CREBBP p.Arg1664His VAR_035084
7 CREBBP p.Tyr1175Cys VAR_037305 rs28937315
8 CREBBP p.Tyr650Phe VAR_072915
9 CREBBP p.Ala789Thr VAR_072916 rs746728741
10 CREBBP p.Thr910Ala VAR_072917 rs143247685
11 CREBBP p.Glu1278Ala VAR_072918
12 CREBBP p.Asp1406Tyr VAR_072919
13 CREBBP p.Gln1415Pro VAR_072920
14 CREBBP p.Pro1475Thr VAR_072921
15 CREBBP p.Tyr1503Phe VAR_072922
16 CREBBP p.Leu1507Pro VAR_072923
17 CREBBP p.Asp1543Asn VAR_072924

ClinVar genetic disease variations for Rubinstein-Taybi Syndrome 1:

6
(showing 510, show less)
# Gene Variation Type Significance SNP ID Assembly Location
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.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121434624 GRCh38 Chromosome 16, 3850689: 3850689
3 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh37 Chromosome 16, 3843534: 3843534
4 CREBBP NM_004380.2(CREBBP): c.1069C> T (p.Gln357Ter) single nucleotide variant Pathogenic rs121434625 GRCh38 Chromosome 16, 3793533: 3793533
5 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh37 Chromosome 16, 3790400: 3790400
6 CREBBP NM_004380.2(CREBBP): c.4133G> C (p.Arg1378Pro) single nucleotide variant Pathogenic rs121434626 GRCh38 Chromosome 16, 3740399: 3740399
7 CREBBP CREBBP, 2-BP DEL, NT5222 deletion Pathogenic
8 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh37 Chromosome 16, 3807895: 3807895
9 CREBBP NM_004380.2(CREBBP): c.3524A> G (p.Tyr1175Cys) single nucleotide variant Pathogenic rs28937315 GRCh38 Chromosome 16, 3757894: 3757894
10 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh37 Chromosome 16, 3799632: 3799632
11 CREBBP NM_004380.2(CREBBP): c.3832G> A (p.Glu1278Lys) single nucleotide variant Pathogenic rs267606752 GRCh38 Chromosome 16, 3749631: 3749631
12 CREBBP CREBBP, IVS21, A-T, -2 single nucleotide variant Pathogenic
13 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh37 Chromosome 16, 3794894: 3794894
14 CREBBP NM_004380.2(CREBBP): c.3982+1G> A single nucleotide variant Pathogenic rs398124145 GRCh38 Chromosome 16, 3744893: 3744893
15 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh37 Chromosome 16, 3778599: 3778599
16 CREBBP NM_004380.2(CREBBP): c.6449C> T (p.Pro2150Leu) single nucleotide variant Uncertain significance rs587783512 GRCh38 Chromosome 16, 3728598: 3728598
17 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh37 Chromosome 16, 3778877: 3778918
18 CREBBP NM_004380.2(CREBBP): c.6130_6171del42 (p.Ala2044_Gln2057del) deletion Likely pathogenic rs587783511 GRCh38 Chromosome 16, 3728876: 3728917
19 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh37 Chromosome 16, 3778960: 3778960
20 CREBBP NM_004380.2(CREBBP): c.6088C> T (p.Gln2030Ter) single nucleotide variant Pathogenic rs587783510 GRCh38 Chromosome 16, 3728959: 3728959
21 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh37 Chromosome 16, 3779179: 3779179
22 CREBBP NM_004380.2(CREBBP): c.5869delG (p.Glu1957Lysfs) deletion Pathogenic rs587783508 GRCh38 Chromosome 16, 3729178: 3729178
23 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh37 Chromosome 16, 3779204: 3779214
24 CREBBP NM_004380.2(CREBBP): c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs) deletion Pathogenic rs587783506 GRCh38 Chromosome 16, 3729203: 3729213
25 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh37 Chromosome 16, 3779211: 3779211
26 CREBBP NM_004380.2(CREBBP): c.5837delC (p.Pro1946Hisfs) deletion Pathogenic rs587783507 GRCh38 Chromosome 16, 3729210: 3729210
27 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh37 Chromosome 16, 3779227: 3779227
28 CREBBP NM_004380.2(CREBBP): c.5821C> T (p.Gln1941Ter) single nucleotide variant Pathogenic rs587783505 GRCh38 Chromosome 16, 3729226: 3729226
29 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh37 Chromosome 16, 3779248: 3779248
30 CREBBP NM_004380.2(CREBBP): c.5800T> C (p.Ser1934Pro) single nucleotide variant Uncertain significance rs587783504 GRCh38 Chromosome 16, 3729247: 3729247
31 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh37 Chromosome 16, 3781315: 3781315
32 CREBBP NM_004380.2(CREBBP): c.5050T> C (p.Ser1684Pro) single nucleotide variant Likely pathogenic rs587783503 GRCh38 Chromosome 16, 3731314: 3731314
33 CREBBP NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh37 Chromosome 16, 3781324: 3781326
34 CREBBP NM_004380.2(CREBBP): c.5039_5041delCCT (p.Ser1680del) deletion Likely pathogenic rs587783502 GRCh38 Chromosome 16, 3731323: 3731325
35 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh37 Chromosome 16, 3781471: 3781471
36 CREBBP NM_004380.2(CREBBP): c.4894T> C (p.Phe1632Leu) single nucleotide variant Uncertain significance rs587783501 GRCh38 Chromosome 16, 3731470: 3731470
37 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh37 Chromosome 16, 3781875: 3781875
38 CREBBP NM_004380.2(CREBBP): c.4792delA (p.Ser1598Alafs) deletion Pathogenic rs587783500 GRCh38 Chromosome 16, 3731874: 3731874
39 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh37 Chromosome 16, 3786076: 3786076
40 CREBBP NM_004380.2(CREBBP): c.4689delG (p.Lys1565Argfs) deletion Pathogenic rs587783499 GRCh38 Chromosome 16, 3736075: 3736075
41 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh37 Chromosome 16, 3786703: 3786703
42 CREBBP NM_004380.2(CREBBP): c.4508A> G (p.Tyr1503Cys) single nucleotide variant Pathogenic rs587783497 GRCh38 Chromosome 16, 3736702: 3736702
43 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh37 Chromosome 16, 3786766: 3786766
44 CREBBP NM_004380.2(CREBBP): c.4445A> G (p.Tyr1482Cys) single nucleotide variant Likely pathogenic rs587783496 GRCh38 Chromosome 16, 3736765: 3736765
45 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh37 Chromosome 16, 3786767: 3786767
46 CREBBP NM_004380.2(CREBBP): c.4444T> G (p.Tyr1482Asp) single nucleotide variant Pathogenic rs587783495 GRCh38 Chromosome 16, 3736766: 3736766
47 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh37 Chromosome 16, 3786813: 3786813
48 CREBBP NM_004380.2(CREBBP): c.4398T> A (p.Tyr1466Ter) single nucleotide variant Pathogenic rs147688139 GRCh38 Chromosome 16, 3736812: 3736812
49 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh37 Chromosome 16, 3788578: 3788578
50 CREBBP NM_004380.2(CREBBP): c.4376A> G (p.Glu1459Gly) single nucleotide variant Likely pathogenic rs587783494 GRCh38 Chromosome 16, 3738577: 3738577
51 CREBBP NM_004380.2(CREBBP): c.4281-11C> G single nucleotide variant Likely pathogenic rs587783493 GRCh37 Chromosome 16, 3788684: 3788684
52 CREBBP NM_004380.2(CREBBP): c.4281-11C> G single nucleotide variant Likely pathogenic rs587783493 GRCh38 Chromosome 16, 3738683: 3738683
53 CREBBP NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser) single nucleotide variant Likely pathogenic rs587783492 GRCh37 Chromosome 16, 3789633: 3789633
54 CREBBP NM_004380.2(CREBBP): c.4226T> C (p.Phe1409Ser) single nucleotide variant Likely pathogenic rs587783492 GRCh38 Chromosome 16, 3739632: 3739632
55 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh37 Chromosome 16, 3790399: 3790399
56 CREBBP NM_004380.2(CREBBP): c.4133+1G> A single nucleotide variant Pathogenic rs587783491 GRCh38 Chromosome 16, 3740398: 3740398
57 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh37 Chromosome 16, 3790455: 3790455
58 CREBBP NM_004380.2(CREBBP): c.4078C> T (p.Arg1360Ter) single nucleotide variant Pathogenic rs587783490 GRCh38 Chromosome 16, 3740454: 3740454
59 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh37 Chromosome 16, 3790488: 3790488
60 CREBBP NM_004380.2(CREBBP): c.4045C> T (p.Gln1349Ter) single nucleotide variant Pathogenic rs587783489 GRCh38 Chromosome 16, 3740487: 3740487
61 CREBBP NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro) single nucleotide variant Likely pathogenic rs587783488 GRCh37 Chromosome 16, 3790511: 3790511
62 CREBBP NM_004380.2(CREBBP): c.4022G> C (p.Arg1341Pro) single nucleotide variant Likely pathogenic rs587783488 GRCh38 Chromosome 16, 3740510: 3740510
63 CREBBP NM_004380.2(CREBBP): c.3989A> G (p.Gln1330Arg) single nucleotide variant Uncertain significance rs587783487 GRCh37 Chromosome 16, 3790544: 3790544
64 CREBBP NM_004380.2(CREBBP): c.3989A> G (p.Gln1330Arg) single nucleotide variant Uncertain significance rs587783487 GRCh38 Chromosome 16, 3740543: 3740543
65 CREBBP NM_004380.2(CREBBP): c.3983-2A> G single nucleotide variant Pathogenic rs587783486 GRCh37 Chromosome 16, 3790552: 3790552
66 CREBBP NM_004380.2(CREBBP): c.3983-2A> G single nucleotide variant Pathogenic rs587783486 GRCh38 Chromosome 16, 3740551: 3740551
67 CREBBP NM_004380.2(CREBBP): c.3914+3G> T single nucleotide variant Likely pathogenic rs587783485 GRCh37 Chromosome 16, 3795275: 3795275
68 CREBBP NM_004380.2(CREBBP): c.3914+3G> T single nucleotide variant Likely pathogenic rs587783485 GRCh38 Chromosome 16, 3745274: 3745274
69 CREBBP NM_004380.2(CREBBP): c.3900C> A (p.Ile1300=) single nucleotide variant Benign rs129974 GRCh37 Chromosome 16, 3795292: 3795292
70 CREBBP NM_004380.2(CREBBP): c.3900C> A (p.Ile1300=) single nucleotide variant Benign rs129974 GRCh38 Chromosome 16, 3745291: 3745291
71 CREBBP NM_004380.2(CREBBP): c.3836+1G> A single nucleotide variant Pathogenic rs200782888 GRCh37 Chromosome 16, 3799627: 3799627
72 CREBBP NM_004380.2(CREBBP): c.3836+1G> A single nucleotide variant Pathogenic rs200782888 GRCh38 Chromosome 16, 3749626: 3749626
73 CREBBP NM_004380.2(CREBBP): c.3779+1G> A single nucleotide variant Pathogenic rs587783483 GRCh37 Chromosome 16, 3801726: 3801726
74 CREBBP NM_004380.2(CREBBP): c.3779+1G> A single nucleotide variant Pathogenic rs587783483 GRCh38 Chromosome 16, 3751725: 3751725
75 CREBBP NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs587783482 GRCh37 Chromosome 16, 3807374: 3807374
76 CREBBP NM_004380.2(CREBBP): c.3613G> T (p.Glu1205Ter) single nucleotide variant Pathogenic rs587783482 GRCh38 Chromosome 16, 3757373: 3757373
77 CREBBP NM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys) single nucleotide variant Likely pathogenic rs587783481 GRCh37 Chromosome 16, 3807919: 3807919
78 CREBBP NM_004380.2(CREBBP): c.3500A> G (p.Tyr1167Cys) single nucleotide variant Likely pathogenic rs587783481 GRCh38 Chromosome 16, 3757918: 3757918
79 CREBBP NM_004380.2(CREBBP): c.3369+1G> T single nucleotide variant Pathogenic rs587783480 GRCh37 Chromosome 16, 3808854: 3808854
80 CREBBP NM_004380.2(CREBBP): c.3369+1G> T single nucleotide variant Pathogenic rs587783480 GRCh38 Chromosome 16, 3758853: 3758853
81 CREBBP NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter) single nucleotide variant Pathogenic rs587783479 GRCh37 Chromosome 16, 3808914: 3808914
82 CREBBP NM_004380.2(CREBBP): c.3310C> T (p.Gln1104Ter) single nucleotide variant Pathogenic rs587783479 GRCh38 Chromosome 16, 3758913: 3758913
83 CREBBP NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter) single nucleotide variant Pathogenic rs587783475 GRCh37 Chromosome 16, 3820660: 3820660
84 CREBBP NM_004380.2(CREBBP): c.2791C> T (p.Gln931Ter) single nucleotide variant Pathogenic rs587783475 GRCh38 Chromosome 16, 3770659: 3770659
85 CREBBP NM_004380.2(CREBBP): c.2784G> A (p.Pro928=) single nucleotide variant Benign rs3025694 GRCh37 Chromosome 16, 3820667: 3820667
86 CREBBP NM_004380.2(CREBBP): c.2784G> A (p.Pro928=) single nucleotide variant Benign rs3025694 GRCh38 Chromosome 16, 3770666: 3770666
87 CREBBP NM_004380.2(CREBBP): c.2679G> A (p.Ser893=) single nucleotide variant Uncertain significance rs587783474 GRCh37 Chromosome 16, 3820772: 3820772
88 CREBBP NM_004380.2(CREBBP): c.2679G> A (p.Ser893=) single nucleotide variant Uncertain significance rs587783474 GRCh38 Chromosome 16, 3770771: 3770771
89 CREBBP NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs) deletion Pathogenic rs587783473 GRCh37 Chromosome 16, 3820844: 3820845
90 CREBBP NM_004380.2(CREBBP): c.2606_2607delTC (p.Leu869Profs) deletion Pathogenic rs587783473 GRCh38 Chromosome 16, 3770843: 3770844
91 CREBBP NM_004380.2(CREBBP): c.2606T> C (p.Leu869Pro) single nucleotide variant Uncertain significance rs587783472 GRCh37 Chromosome 16, 3820845: 3820845
92 CREBBP NM_004380.2(CREBBP): c.2606T> C (p.Leu869Pro) single nucleotide variant Uncertain significance rs587783472 GRCh38 Chromosome 16, 3770844: 3770844
93 CREBBP NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter) single nucleotide variant Pathogenic rs587783471 GRCh37 Chromosome 16, 3820916: 3820916
94 CREBBP NM_004380.2(CREBBP): c.2535C> A (p.Cys845Ter) single nucleotide variant Pathogenic rs587783471 GRCh38 Chromosome 16, 3770915: 3770915
95 CREBBP NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs) deletion Pathogenic rs587783470 GRCh37 Chromosome 16, 3827649: 3827650
96 CREBBP NM_004380.2(CREBBP): c.2122_2123delCT (p.Leu708Valfs) deletion Pathogenic rs587783470 GRCh38 Chromosome 16, 3777648: 3777649
97 CREBBP NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs) deletion Pathogenic rs587783469 GRCh37 Chromosome 16, 3828099: 3828099
98 CREBBP NM_004380.2(CREBBP): c.2026delC (p.Gln676Lysfs) deletion Pathogenic rs587783469 GRCh38 Chromosome 16, 3778098: 3778098
99 CREBBP NM_004380.2(CREBBP): c.1955A> C (p.His652Pro) single nucleotide variant Uncertain significance rs587783468 GRCh37 Chromosome 16, 3828170: 3828170
100 CREBBP NM_004380.2(CREBBP): c.1955A> C (p.His652Pro) single nucleotide variant Uncertain significance rs587783468 GRCh38 Chromosome 16, 3778169: 3778169
101 CREBBP NM_004380.2(CREBBP): c.1953T> C (p.Tyr651=) single nucleotide variant Benign rs130003 GRCh37 Chromosome 16, 3828172: 3828172
102 CREBBP NM_004380.2(CREBBP): c.1953T> C (p.Tyr651=) single nucleotide variant Benign rs130003 GRCh38 Chromosome 16, 3778171: 3778171
103 CREBBP NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs) deletion Pathogenic rs587783467 GRCh37 Chromosome 16, 3830735: 3830735
104 CREBBP NM_004380.2(CREBBP): c.1821delA (p.Lys607Asnfs) deletion Pathogenic rs587783467 GRCh38 Chromosome 16, 3780734: 3780734
105 CREBBP NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs) deletion Pathogenic rs587783465 GRCh37 Chromosome 16, 3831291: 3831291
106 CREBBP NM_004380.2(CREBBP): c.1590delC (p.Asn530Lysfs) deletion Pathogenic rs587783465 GRCh38 Chromosome 16, 3781290: 3781290
107 CREBBP NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs587783464 GRCh37 Chromosome 16, 3842042: 3842042
108 CREBBP NM_004380.2(CREBBP): c.1270C> T (p.Arg424Ter) single nucleotide variant Pathogenic rs587783464 GRCh38 Chromosome 16, 3792041: 3792041
109 CREBBP NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs587783463 GRCh37 Chromosome 16, 3842055: 3842055
110 CREBBP NM_004380.2(CREBBP): c.1257G> A (p.Trp419Ter) single nucleotide variant Pathogenic rs587783463 GRCh38 Chromosome 16, 3792054: 3792054
111 CREBBP NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs587783461 GRCh37 Chromosome 16, 3843447: 3843447
112 CREBBP NM_004380.2(CREBBP): c.1156C> T (p.Arg386Ter) single nucleotide variant Pathogenic rs587783461 GRCh38 Chromosome 16, 3793446: 3793446
113 CREBBP NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs587783460 GRCh37 Chromosome 16, 3843540: 3843540
114 CREBBP NM_004380.2(CREBBP): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs587783460 GRCh38 Chromosome 16, 3793539: 3793539
115 CREBBP NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter) single nucleotide variant Pathogenic rs587783516 GRCh37 Chromosome 16, 3860626: 3860626
116 CREBBP NM_004380.2(CREBBP): c.953C> A (p.Ser318Ter) single nucleotide variant Pathogenic rs587783516 GRCh38 Chromosome 16, 3810625: 3810625
117 CREBBP NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783509 GRCh37 Chromosome 16, 3900498: 3900498
118 CREBBP NM_004380.2(CREBBP): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783509 GRCh38 Chromosome 16, 3850497: 3850497
119 CREBBP NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs587783478 GRCh37 Chromosome 16, 3900780: 3900780
120 CREBBP NM_004380.2(CREBBP): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs587783478 GRCh38 Chromosome 16, 3850779: 3850779
121 CREBBP NM_004380.2(CREBBP): c.299delG (p.Gly100Valfs) deletion Pathogenic rs587783477 GRCh37 Chromosome 16, 3900797: 3900797
122 CREBBP NM_004380.2(CREBBP): c.299delG (p.Gly100Valfs) deletion Pathogenic rs587783477 GRCh38 Chromosome 16, 3850796: 3850796
123 CREBBP NM_004380.2(CREBBP): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs587783476 GRCh37 Chromosome 16, 3900810: 3900810
124 CREBBP NM_004380.2(CREBBP): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs587783476 GRCh38 Chromosome 16, 3850809: 3850809
125 CREBBP NM_004380.2(CREBBP): c.164A> G (p.Asn55Ser) single nucleotide variant Uncertain significance rs587783466 GRCh37 Chromosome 16, 3900932: 3900932
126 CREBBP NM_004380.2(CREBBP): c.164A> G (p.Asn55Ser) single nucleotide variant Uncertain significance rs587783466 GRCh38 Chromosome 16, 3850931: 3850931
127 CREBBP NM_004380.2(CREBBP): c.86-2A> C single nucleotide variant Pathogenic rs587783515 GRCh37 Chromosome 16, 3901012: 3901012
128 CREBBP NM_004380.2(CREBBP): c.86-2A> C single nucleotide variant Pathogenic rs587783515 GRCh38 Chromosome 16, 3851011: 3851011
129 CREBBP NM_004380.2(CREBBP): c.37A> G (p.Lys13Glu) single nucleotide variant Likely pathogenic rs587783484 GRCh37 Chromosome 16, 3929881: 3929881
130 CREBBP NM_004380.2(CREBBP): c.37A> G (p.Lys13Glu) single nucleotide variant Likely pathogenic rs587783484 GRCh38 Chromosome 16, 3879880: 3879880
131 EP300 NM_001429.3(EP300): c.586A> G (p.Ile196Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148693910 GRCh37 Chromosome 22, 41513682: 41513682
132 EP300 NM_001429.3(EP300): c.586A> G (p.Ile196Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148693910 GRCh38 Chromosome 22, 41117678: 41117678
133 EP300 NM_001429.3(EP300): c.942C> T (p.Gly314=) single nucleotide variant Benign/Likely benign rs20553 GRCh37 Chromosome 22, 41523526: 41523526
134 EP300 NM_001429.3(EP300): c.942C> T (p.Gly314=) single nucleotide variant Benign/Likely benign rs20553 GRCh38 Chromosome 22, 41127522: 41127522
135 EP300 NM_001429.3(EP300): c.1782G> C (p.Thr594=) single nucleotide variant Likely benign rs17002307 GRCh37 Chromosome 22, 41536165: 41536165
136 EP300 NM_001429.3(EP300): c.1782G> C (p.Thr594=) single nucleotide variant Likely benign rs17002307 GRCh38 Chromosome 22, 41140161: 41140161
137 EP300 NM_001429.3(EP300): c.2380-15T> C single nucleotide variant Benign rs17002316 GRCh37 Chromosome 22, 41545750: 41545750
138 EP300 NM_001429.3(EP300): c.2380-15T> C single nucleotide variant Benign rs17002316 GRCh38 Chromosome 22, 41149746: 41149746
139 EP300 NM_001429.3(EP300): c.2998-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs115849119 GRCh37 Chromosome 22, 41548198: 41548198
140 EP300 NM_001429.3(EP300): c.2998-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs115849119 GRCh38 Chromosome 22, 41152194: 41152194
141 EP300 NM_001429.3(EP300): c.3348G> A (p.Gln1116=) single nucleotide variant Benign rs20554 GRCh37 Chromosome 22, 41553259: 41553259
142 EP300 NM_001429.3(EP300): c.3348G> A (p.Gln1116=) single nucleotide variant Benign rs20554 GRCh38 Chromosome 22, 41157255: 41157255
143 EP300 NM_001429.3(EP300): c.3426C> T (p.Cys1142=) single nucleotide variant Benign/Likely benign rs76268515 GRCh37 Chromosome 22, 41553337: 41553337
144 EP300 NM_001429.3(EP300): c.3426C> T (p.Cys1142=) single nucleotide variant Benign/Likely benign rs76268515 GRCh38 Chromosome 22, 41157333: 41157333
145 EP300 NM_001429.3(EP300): c.5061+9C> T single nucleotide variant Benign/Likely benign rs73176628 GRCh37 Chromosome 22, 41572541: 41572541
146 EP300 NM_001429.3(EP300): c.5061+9C> T single nucleotide variant Benign/Likely benign rs73176628 GRCh38 Chromosome 22, 41176537: 41176537
147 EP300 NM_001429.3(EP300): c.5061+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs78432056 GRCh37 Chromosome 22, 41572542: 41572542
148 EP300 NM_001429.3(EP300): c.5061+10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs78432056 GRCh38 Chromosome 22, 41176538: 41176538
149 EP300 NM_001429.3(EP300): c.6372C> T (p.Val2124=) single nucleotide variant Benign/Likely benign rs34985152 GRCh37 Chromosome 22, 41574087: 41574087
150 EP300 NM_001429.3(EP300): c.6372C> T (p.Val2124=) single nucleotide variant Benign/Likely benign rs34985152 GRCh38 Chromosome 22, 41178083: 41178083
151 EP300 NM_001429.3(EP300): c.6636G> A (p.Gln2212=) single nucleotide variant Benign/Likely benign rs142673005 GRCh37 Chromosome 22, 41574351: 41574351
152 EP300 NM_001429.3(EP300): c.6636G> A (p.Gln2212=) single nucleotide variant Benign/Likely benign rs142673005 GRCh38 Chromosome 22, 41178347: 41178347
153 EP300 NM_001429.3(EP300): c.*13_*15delGTA deletion Benign rs35508493 GRCh37 Chromosome 22, 41574973: 41574975
154 EP300 NM_001429.3(EP300): c.*13_*15delGTA deletion Benign rs35508493 GRCh38 Chromosome 22, 41178969: 41178971
155 EP300 NM_001429.3(EP300): c.2064A> G (p.Leu688=) single nucleotide variant Benign/Likely benign rs61756763 GRCh37 Chromosome 22, 41542753: 41542753
156 EP300 NM_001429.3(EP300): c.2064A> G (p.Leu688=) single nucleotide variant Benign/Likely benign rs61756763 GRCh38 Chromosome 22, 41146749: 41146749
157 EP300 NM_001429.3(EP300): c.2240C> T (p.Pro747Leu) single nucleotide variant Likely benign rs193026103 GRCh37 Chromosome 22, 41543949: 41543949
158 EP300 NM_001429.3(EP300): c.2240C> T (p.Pro747Leu) single nucleotide variant Likely benign rs193026103 GRCh38 Chromosome 22, 41147945: 41147945
159 CREBBP NM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs) deletion Pathogenic rs794727124 GRCh37 Chromosome 16, 3820766: 3820766
160 CREBBP NM_004380.2(CREBBP): c.2685delC (p.Gln897Argfs) deletion Pathogenic rs794727124 GRCh38 Chromosome 16, 3770765: 3770765
161 EP300 NM_001429.3(EP300): c.3143-4delT deletion Conflicting interpretations of pathogenicity rs794727184 GRCh37 Chromosome 22, 41550995: 41550995
162 EP300 NM_001429.3(EP300): c.3143-4delT deletion Conflicting interpretations of pathogenicity rs794727184 GRCh38 Chromosome 22, 41154991: 41154991
163 CREBBP NM_004380.2(CREBBP): c.3698+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374345970 GRCh37 Chromosome 16, 3807282: 3807282
164 CREBBP NM_004380.2(CREBBP): c.3698+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374345970 GRCh38 Chromosome 16, 3757281: 3757281
165 CREBBP NM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs) deletion Pathogenic rs794727391 GRCh37 Chromosome 16, 3790540: 3790540
166 CREBBP NM_004380.2(CREBBP): c.3993delC (p.Thr1332Glnfs) deletion Pathogenic rs794727391 GRCh38 Chromosome 16, 3740539: 3740539
167 EP300 NM_001429.3(EP300): c.5957C> T (p.Pro1986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144626200 GRCh37 Chromosome 22, 41573672: 41573672
168 EP300 NM_001429.3(EP300): c.5957C> T (p.Pro1986Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs144626200 GRCh38 Chromosome 22, 41177668: 41177668
169 EP300 NM_001429.3(EP300): c.1283-8T> C single nucleotide variant Benign/Likely benign rs76827562 GRCh37 Chromosome 22, 41527384: 41527384
170 EP300 NM_001429.3(EP300): c.1283-8T> C single nucleotide variant Benign/Likely benign rs76827562 GRCh38 Chromosome 22, 41131380: 41131380
171 CREBBP NM_004380.2(CREBBP): c.5614A> G (p.Met1872Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045037 GRCh37 Chromosome 16, 3779434: 3779434
172 CREBBP NM_004380.2(CREBBP): c.5614A> G (p.Met1872Val) single nucleotide variant Pathogenic/Likely pathogenic rs797045037 GRCh38 Chromosome 16, 3729433: 3729433
173 CREBBP NM_004380.2(CREBBP): c.(?_-23)_85+?del deletion Pathogenic GRCh37 Chromosome 16, 3929833: 3929940
174 CREBBP NM_004380.2(CREBBP): c.(?_-23)_85+?del deletion Pathogenic GRCh38 Chromosome 16, 3879832: 3879939
175 CREBBP NM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs) duplication Pathogenic rs797045500 GRCh38 Chromosome 16, 3728630: 3728652
176 CREBBP NM_004380.2(CREBBP): c.6395_6417dup23 (p.Gln2140Alafs) duplication Pathogenic rs797045500 GRCh37 Chromosome 16, 3778631: 3778653
177 CREBBP NM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) deletion Pathogenic rs797045499 GRCh37 Chromosome 16, 3778932: 3778941
178 CREBBP NM_004380.2(CREBBP): c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs) deletion Pathogenic rs797045499 GRCh38 Chromosome 16, 3728931: 3728940
179 CREBBP NM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs) insertion Pathogenic rs797045498 GRCh38 Chromosome 16, 3729110: 3729111
180 CREBBP NM_004380.2(CREBBP): c.5936_5937insT (p.Ser1980Glnfs) insertion Pathogenic rs797045498 GRCh37 Chromosome 16, 3779111: 3779112
181 CREBBP NM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs) duplication Pathogenic rs797045497 GRCh37 Chromosome 16, 3779211: 3779211
182 CREBBP NM_004380.2(CREBBP): c.5837dupC (p.Pro1947Thrfs) duplication Pathogenic rs797045497 GRCh38 Chromosome 16, 3729210: 3729210
183 CREBBP NM_004380.2(CREBBP): c.5412C> A (p.His1804Gln) single nucleotide variant Likely pathogenic rs797045496 GRCh37 Chromosome 16, 3779636: 3779636
184 CREBBP NM_004380.2(CREBBP): c.5412C> A (p.His1804Gln) single nucleotide variant Likely pathogenic rs797045496 GRCh38 Chromosome 16, 3729635: 3729635
185 CREBBP NM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter) single nucleotide variant Pathogenic rs797045495 GRCh38 Chromosome 16, 3731337: 3731337
186 CREBBP NM_004380.2(CREBBP): c.5027G> A (p.Trp1676Ter) single nucleotide variant Pathogenic rs797045495 GRCh37 Chromosome 16, 3781338: 3781338
187 CREBBP NM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser) single nucleotide variant Likely pathogenic rs797045494 GRCh38 Chromosome 16, 3738672: 3738672
188 CREBBP NM_004380.2(CREBBP): c.4281G> T (p.Arg1427Ser) single nucleotide variant Likely pathogenic rs797045494 GRCh37 Chromosome 16, 3788673: 3788673
189 CREBBP NM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro) single nucleotide variant Likely pathogenic rs797045492 GRCh37 Chromosome 16, 3807929: 3807929
190 CREBBP NM_004380.2(CREBBP): c.3490G> C (p.Ala1164Pro) single nucleotide variant Likely pathogenic rs797045492 GRCh38 Chromosome 16, 3757928: 3757928
191 CREBBP NM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs) duplication Pathogenic rs797045490 GRCh38 Chromosome 16, 3757957: 3757957
192 CREBBP NM_004380.2(CREBBP): c.3461dupT (p.Asp1155Glyfs) duplication Pathogenic rs797045490 GRCh37 Chromosome 16, 3807958: 3807958
193 CREBBP NM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter) single nucleotide variant Pathogenic rs797045489 GRCh38 Chromosome 16, 3757982: 3757982
194 CREBBP NM_004380.2(CREBBP): c.3436C> T (p.Gln1146Ter) single nucleotide variant Pathogenic rs797045489 GRCh37 Chromosome 16, 3807983: 3807983
195 CREBBP NM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs) indel Pathogenic rs797045488 GRCh38 Chromosome 16, 3767885: 3767893
196 CREBBP NM_004380.2(CREBBP): c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs) indel Pathogenic rs797045488 GRCh37 Chromosome 16, 3817886: 3817894
197 CREBBP NM_004380.2(CREBBP): c.2810_2811insC (p.Ser938Valfs) duplication Pathogenic rs797045485 GRCh38 Chromosome 16, 3770640: 3770640
198 CREBBP NM_004380.2(CREBBP): c.2810_2811insC (p.Ser938Valfs) duplication Pathogenic rs797045485 GRCh37 Chromosome 16, 3820641: 3820641
199 CREBBP NM_004380.2(CREBBP): c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs) indel Pathogenic rs797045484 GRCh38 Chromosome 16, 3770760: 3770771
200 CREBBP NM_004380.2(CREBBP): c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs) indel Pathogenic rs797045484 GRCh37 Chromosome 16, 3820761: 3820772
201 CREBBP NM_004380.2(CREBBP): c.2178_2179insC (p.Met727Hisfs) duplication Pathogenic rs797045483 GRCh38 Chromosome 16, 3774674: 3774674
202 CREBBP NM_004380.2(CREBBP): c.2178_2179insC (p.Met727Hisfs) duplication Pathogenic rs797045483 GRCh37 Chromosome 16, 3824675: 3824675
203 CREBBP NM_004380.2(CREBBP): c.827_828dupTT (p.Gly277Leufs) duplication Pathogenic rs797045502 GRCh37 Chromosome 16, 3860751: 3860752
204 CREBBP NM_004380.2(CREBBP): c.827_828dupTT (p.Gly277Leufs) duplication Pathogenic rs797045502 GRCh38 Chromosome 16, 3810750: 3810751
205 CREBBP NM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs) duplication Pathogenic rs797045491 GRCh38 Chromosome 16, 3850746: 3850747
206 CREBBP NM_004380.2(CREBBP): c.348_349dupTG (p.Ala117Valfs) duplication Pathogenic rs797045491 GRCh37 Chromosome 16, 3900747: 3900748
207 CREBBP NM_004380.2(CREBBP): c.282dupC (p.Val95Argfs) duplication Pathogenic rs797045486 GRCh38 Chromosome 16, 3850813: 3850813
208 CREBBP NM_004380.2(CREBBP): c.282dupC (p.Val95Argfs) duplication Pathogenic rs797045486 GRCh37 Chromosome 16, 3900814: 3900814
209 CREBBP NM_004380.2(CREBBP): c.86-1G> T single nucleotide variant Pathogenic rs11644721 GRCh37 Chromosome 16, 3901011: 3901011
210 CREBBP NM_004380.2(CREBBP): c.86-1G> T single nucleotide variant Pathogenic rs11644721 GRCh38 Chromosome 16, 3851010: 3851010
211 CREBBP NM_004380.2(CREBBP): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs797045487 GRCh37 Chromosome 16, 3929916: 3929916
212 CREBBP NM_004380.2(CREBBP): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs797045487 GRCh38 Chromosome 16, 3879915: 3879915
213 EP300 NM_001429.3(EP300): c.1168+7G> C single nucleotide variant Benign/Likely benign rs181755354 GRCh37 Chromosome 22, 41523759: 41523759
214 EP300 NM_001429.3(EP300): c.1168+7G> C single nucleotide variant Benign/Likely benign rs181755354 GRCh38 Chromosome 22, 41127755: 41127755
215 EP300 NM_001429.3(EP300): c.1878+9C> G single nucleotide variant Likely benign rs186198699 GRCh37 Chromosome 22, 41536270: 41536270
216 EP300 NM_001429.3(EP300): c.1878+9C> G single nucleotide variant Likely benign rs186198699 GRCh38 Chromosome 22, 41140266: 41140266
217 EP300 NM_001429.3(EP300): c.3105C> T (p.Thr1035=) single nucleotide variant Conflicting interpretations of pathogenicity rs150498069 GRCh37 Chromosome 22, 41548317: 41548317
218 EP300 NM_001429.3(EP300): c.3105C> T (p.Thr1035=) single nucleotide variant Conflicting interpretations of pathogenicity rs150498069 GRCh38 Chromosome 22, 41152313: 41152313
219 CREBBP NM_004380.2(CREBBP): c.5237G> T (p.Gly1746Val) single nucleotide variant Uncertain significance rs869312714 GRCh37 Chromosome 16, 3779811: 3779811
220 CREBBP NM_004380.2(CREBBP): c.5237G> T (p.Gly1746Val) single nucleotide variant Uncertain significance rs869312714 GRCh38 Chromosome 16, 3729810: 3729810
221 CREBBP NM_004380.2(CREBBP): c.3190G> A (p.Glu1064Lys) single nucleotide variant Uncertain significance rs886041006 GRCh37 Chromosome 16, 3817781: 3817781
222 CREBBP NM_004380.2(CREBBP): c.3190G> A (p.Glu1064Lys) single nucleotide variant Uncertain significance rs886041006 GRCh38 Chromosome 16, 3767780: 3767780
223 CREBBP NM_004380.2(CREBBP): c.4134-1G> T single nucleotide variant Likely pathogenic rs886041048 GRCh38 Chromosome 16, 3739725: 3739725
224 CREBBP NM_004380.2(CREBBP): c.4134-1G> T single nucleotide variant Likely pathogenic rs886041048 GRCh37 Chromosome 16, 3789726: 3789726
225 EP300 NM_001429.3(EP300): c.5814G> A (p.Thr1938=) single nucleotide variant Benign/Likely benign rs112948044 GRCh37 Chromosome 22, 41573529: 41573529
226 EP300 NM_001429.3(EP300): c.5814G> A (p.Thr1938=) single nucleotide variant Benign/Likely benign rs112948044 GRCh38 Chromosome 22, 41177525: 41177525
227 EP300 NM_001429.3(EP300): c.-192C> T single nucleotide variant Uncertain significance rs763177046 GRCh37 Chromosome 22, 41488817: 41488817
228 EP300 NM_001429.3(EP300): c.-192C> T single nucleotide variant Uncertain significance rs763177046 GRCh38 Chromosome 22, 41092813: 41092813
229 EP300 NM_001429.3(EP300): c.102C> G (p.Gly34=) single nucleotide variant Uncertain significance rs750031887 GRCh37 Chromosome 22, 41513198: 41513198
230 EP300 NM_001429.3(EP300): c.102C> G (p.Gly34=) single nucleotide variant Uncertain significance rs750031887 GRCh38 Chromosome 22, 41117194: 41117194
231 EP300 NM_001429.3(EP300): c.157T> C (p.Leu53=) single nucleotide variant Uncertain significance rs147566983 GRCh37 Chromosome 22, 41513253: 41513253
232 EP300 NM_001429.3(EP300): c.157T> C (p.Leu53=) single nucleotide variant Uncertain significance rs147566983 GRCh38 Chromosome 22, 41117249: 41117249
233 EP300 NM_001429.3(EP300): c.444G> C (p.Thr148=) single nucleotide variant Uncertain significance rs376779611 GRCh37 Chromosome 22, 41513540: 41513540
234 EP300 NM_001429.3(EP300): c.444G> C (p.Thr148=) single nucleotide variant Uncertain significance rs376779611 GRCh38 Chromosome 22, 41117536: 41117536
235 EP300 NM_001429.3(EP300): c.513G> A (p.Ala171=) single nucleotide variant Uncertain significance rs146041458 GRCh37 Chromosome 22, 41513609: 41513609
236 EP300 NM_001429.3(EP300): c.513G> A (p.Ala171=) single nucleotide variant Uncertain significance rs146041458 GRCh38 Chromosome 22, 41117605: 41117605
237 EP300 NM_001429.3(EP300): c.667C> G (p.Leu223Val) single nucleotide variant Uncertain significance rs746720991 GRCh37 Chromosome 22, 41513763: 41513763
238 EP300 NM_001429.3(EP300): c.667C> G (p.Leu223Val) single nucleotide variant Uncertain significance rs746720991 GRCh38 Chromosome 22, 41117759: 41117759
239 EP300 NM_001429.3(EP300): c.684C> G (p.Pro228=) single nucleotide variant Uncertain significance rs749187279 GRCh38 Chromosome 22, 41117776: 41117776
240 EP300 NM_001429.3(EP300): c.684C> G (p.Pro228=) single nucleotide variant Uncertain significance rs749187279 GRCh37 Chromosome 22, 41513780: 41513780
241 EP300 NM_001429.3(EP300): c.726T> A (p.Leu242=) single nucleotide variant Uncertain significance rs886057555 GRCh38 Chromosome 22, 41117818: 41117818
242 EP300 NM_001429.3(EP300): c.726T> A (p.Leu242=) single nucleotide variant Uncertain significance rs886057555 GRCh37 Chromosome 22, 41513822: 41513822
243 EP300 NM_001429.3(EP300): c.2174T> C (p.Ile725Thr) single nucleotide variant Uncertain significance rs375822328 GRCh38 Chromosome 22, 41147879: 41147879
244 EP300 NM_001429.3(EP300): c.2174T> C (p.Ile725Thr) single nucleotide variant Uncertain significance rs375822328 GRCh37 Chromosome 22, 41543883: 41543883
245 EP300 NM_001429.3(EP300): c.2580A> G (p.Pro860=) single nucleotide variant Uncertain significance rs752536439 GRCh38 Chromosome 22, 41149961: 41149961
246 EP300 NM_001429.3(EP300): c.2580A> G (p.Pro860=) single nucleotide variant Uncertain significance rs752536439 GRCh37 Chromosome 22, 41545965: 41545965
247 EP300 NM_001429.3(EP300): c.2609C> T (p.Pro870Leu) single nucleotide variant Likely benign rs540935486 GRCh38 Chromosome 22, 41149990: 41149990
248 EP300 NM_001429.3(EP300): c.2609C> T (p.Pro870Leu) single nucleotide variant Likely benign rs540935486 GRCh37 Chromosome 22, 41545994: 41545994
249 EP300 NM_001429.3(EP300): c.3143-7T> G single nucleotide variant Uncertain significance rs778277906 GRCh38 Chromosome 22, 41154988: 41154988
250 EP300 NM_001429.3(EP300): c.3143-7T> G single nucleotide variant Uncertain significance rs778277906 GRCh37 Chromosome 22, 41550992: 41550992
251 EP300 NM_001429.3(EP300): c.4311A> C (p.Ala1437=) single nucleotide variant Benign/Likely benign rs150941761 GRCh37 Chromosome 22, 41566434: 41566434
252 EP300 NM_001429.3(EP300): c.4311A> C (p.Ala1437=) single nucleotide variant Benign/Likely benign rs150941761 GRCh38 Chromosome 22, 41170430: 41170430
253 EP300 NM_001429.3(EP300): c.4503G> A (p.Leu1501=) single nucleotide variant Likely benign rs368320273 GRCh37 Chromosome 22, 41568553: 41568553
254 EP300 NM_001429.3(EP300): c.4503G> A (p.Leu1501=) single nucleotide variant Likely benign rs368320273 GRCh38 Chromosome 22, 41172549: 41172549
255 EP300 NM_001429.3(EP300): c.4598C> A (p.Thr1533Asn) single nucleotide variant Uncertain significance rs886057561 GRCh37 Chromosome 22, 41568648: 41568648
256 EP300 NM_001429.3(EP300): c.4598C> A (p.Thr1533Asn) single nucleotide variant Uncertain significance rs886057561 GRCh38 Chromosome 22, 41172644: 41172644
257 EP300 NM_001429.3(EP300): c.4798C> G (p.Leu1600Val) single nucleotide variant Likely benign rs140154690 GRCh37 Chromosome 22, 41572269: 41572269
258 EP300 NM_001429.3(EP300): c.4798C> G (p.Leu1600Val) single nucleotide variant Likely benign rs140154690 GRCh38 Chromosome 22, 41176265: 41176265
259 EP300 NM_001429.3(EP300): c.4908C> T (p.Asp1636=) single nucleotide variant Uncertain significance rs886057562 GRCh37 Chromosome 22, 41572379: 41572379
260 EP300 NM_001429.3(EP300): c.4908C> T (p.Asp1636=) single nucleotide variant Uncertain significance rs886057562 GRCh38 Chromosome 22, 41176375: 41176375
261 EP300 NM_001429.3(EP300): c.5262A> G (p.Ser1754=) single nucleotide variant Uncertain significance rs886057565 GRCh37 Chromosome 22, 41572977: 41572977
262 EP300 NM_001429.3(EP300): c.5262A> G (p.Ser1754=) single nucleotide variant Uncertain significance rs886057565 GRCh38 Chromosome 22, 41176973: 41176973
263 EP300 NM_001429.3(EP300): c.5808G> A (p.Ala1936=) single nucleotide variant Likely benign rs144798492 GRCh37 Chromosome 22, 41573523: 41573523
264 EP300 NM_001429.3(EP300): c.5808G> A (p.Ala1936=) single nucleotide variant Likely benign rs144798492 GRCh38 Chromosome 22, 41177519: 41177519
265 EP300 NM_001429.3(EP300): c.6516C> A (p.His2172Gln) single nucleotide variant Uncertain significance rs139382344 GRCh37 Chromosome 22, 41574231: 41574231
266 EP300 NM_001429.3(EP300): c.6516C> A (p.His2172Gln) single nucleotide variant Uncertain significance rs139382344 GRCh38 Chromosome 22, 41178227: 41178227
267 EP300 NM_001429.3(EP300): c.6951G> A (p.Arg2317=) single nucleotide variant Likely benign rs139551099 GRCh38 Chromosome 22, 41178662: 41178662
268 EP300 NM_001429.3(EP300): c.6951G> A (p.Arg2317=) single nucleotide variant Likely benign rs139551099 GRCh37 Chromosome 22, 41574666: 41574666
269 EP300 NM_001429.3(EP300): c.*138G> A single nucleotide variant Likely benign rs75494658 GRCh38 Chromosome 22, 41179094: 41179094
270 EP300 NM_001429.3(EP300): c.*138G> A single nucleotide variant Likely benign rs75494658 GRCh37 Chromosome 22, 41575098: 41575098
271 EP300 NM_001429.3(EP300): c.*340dupT duplication Likely benign rs886057573 GRCh38 Chromosome 22, 41179296: 41179296
272 EP300 NM_001429.3(EP300): c.*340dupT duplication Likely benign rs886057573 GRCh37 Chromosome 22, 41575300: 41575300
273 EP300 NM_001429.3(EP300): c.*592delA deletion Uncertain significance rs60283061 GRCh38 Chromosome 22, 41179548: 41179548
274 EP300 NM_001429.3(EP300): c.*592delA deletion Uncertain significance rs60283061 GRCh37 Chromosome 22, 41575552: 41575552
275 EP300 NM_001429.3(EP300): c.*592dupA duplication Uncertain significance rs398037214 GRCh38 Chromosome 22, 41179548: 41179548
276 EP300 NM_001429.3(EP300): c.*592dupA duplication Uncertain significance rs398037214 GRCh37 Chromosome 22, 41575552: 41575552
277 EP300 NM_001429.3(EP300): c.*753T> C single nucleotide variant Uncertain significance rs886057576 GRCh37 Chromosome 22, 41575713: 41575713
278 EP300 NM_001429.3(EP300): c.*753T> C single nucleotide variant Uncertain significance rs886057576 GRCh38 Chromosome 22, 41179709: 41179709
279 EP300 NM_001429.3(EP300): c.*922_*932delACTCACACACAinsC indel Uncertain significance rs886057580 GRCh37 Chromosome 22, 41575882: 41575892
280 EP300 NM_001429.3(EP300): c.*922_*932delACTCACACACAinsC indel Uncertain significance rs886057580 GRCh38 Chromosome 22, 41179878: 41179888
281 EP300 NM_001429.3(EP300): c.*922_*932delACTCACACACAinsCCC indel Uncertain significance rs886057580 GRCh37 Chromosome 22, 41575882: 41575892
282 EP300 NM_001429.3(EP300): c.*922_*932delACTCACACACAinsCCC indel Uncertain significance rs886057580 GRCh38 Chromosome 22, 41179878: 41179888
283 EP300 NM_001429.3(EP300): c.*922_*938del17insC indel Uncertain significance rs886057581 GRCh37 Chromosome 22, 41575882: 41575898
284 EP300 NM_001429.3(EP300): c.*922_*938del17insC indel Uncertain significance rs886057581 GRCh38 Chromosome 22, 41179878: 41179894
285 EP300 NM_001429.3(EP300): c.*926A> C single nucleotide variant Uncertain significance rs140429533 GRCh37 Chromosome 22, 41575886: 41575886
286 EP300 NM_001429.3(EP300): c.*926A> C single nucleotide variant Uncertain significance rs140429533 GRCh38 Chromosome 22, 41179882: 41179882
287 EP300 NM_001429.3(EP300): c.*928A> C single nucleotide variant Uncertain significance rs142198417 GRCh37 Chromosome 22, 41575888: 41575888
288 EP300 NM_001429.3(EP300): c.*928A> C single nucleotide variant Uncertain significance rs142198417 GRCh38 Chromosome 22, 41179884: 41179884
289 EP300 NM_001429.3(EP300): c.*964_*967dupACAC duplication Uncertain significance rs59721178 GRCh38 Chromosome 22, 41179920: 41179923
290 EP300 NM_001429.3(EP300): c.*964_*967dupACAC duplication Uncertain significance rs59721178 GRCh37 Chromosome 22, 41575924: 41575927
291 EP300 NM_001429.3(EP300): c.*966_*967delAC deletion Uncertain significance rs886057583 GRCh38 Chromosome 22, 41179922: 41179923
292 EP300 NM_001429.3(EP300): c.*966_*967delAC deletion Uncertain significance rs886057583 GRCh37 Chromosome 22, 41575926: 41575927
293 EP300 NM_001429.3(EP300): c.-149G> A single nucleotide variant Uncertain significance rs553861147 GRCh37 Chromosome 22, 41488860: 41488860
294 EP300 NM_001429.3(EP300): c.-149G> A single nucleotide variant Uncertain significance rs553861147 GRCh38 Chromosome 22, 41092856: 41092856
295 EP300 NM_001429.3(EP300): c.324C> T (p.Ala108=) single nucleotide variant Likely benign rs138876937 GRCh37 Chromosome 22, 41513420: 41513420
296 EP300 NM_001429.3(EP300): c.324C> T (p.Ala108=) single nucleotide variant Likely benign rs138876937 GRCh38 Chromosome 22, 41117416: 41117416
297 EP300 NM_001429.3(EP300): c.444G> A (p.Thr148=) single nucleotide variant Likely benign rs376779611 GRCh37 Chromosome 22, 41513540: 41513540
298 EP300 NM_001429.3(EP300): c.444G> A (p.Thr148=) single nucleotide variant Likely benign rs376779611 GRCh38 Chromosome 22, 41117536: 41117536
299 EP300 NM_001429.3(EP300): c.1302C> T (p.Pro434=) single nucleotide variant Uncertain significance rs199901345 GRCh38 Chromosome 22, 41131407: 41131407
300 EP300 NM_001429.3(EP300): c.1302C> T (p.Pro434=) single nucleotide variant Uncertain significance rs199901345 GRCh37 Chromosome 22, 41527411: 41527411
301 EP300 NM_001429.3(EP300): c.1516A> G (p.Met506Val) single nucleotide variant Uncertain significance rs886057556 GRCh38 Chromosome 22, 41131621: 41131621
302 EP300 NM_001429.3(EP300): c.1516A> G (p.Met506Val) single nucleotide variant Uncertain significance rs886057556 GRCh37 Chromosome 22, 41527625: 41527625
303 EP300 NM_001429.3(EP300): c.1540A> G (p.Met514Val) single nucleotide variant Uncertain significance rs765266179 GRCh38 Chromosome 22, 41135824: 41135824
304 EP300 NM_001429.3(EP300): c.1540A> G (p.Met514Val) single nucleotide variant Uncertain significance rs765266179 GRCh37 Chromosome 22, 41531828: 41531828
305 EP300 NM_001429.3(EP300): c.2242-6_2242-4delTTT deletion Uncertain significance rs886057559 GRCh38 Chromosome 22, 41149032: 41149034
306 EP300 NM_001429.3(EP300): c.2242-6_2242-4delTTT deletion Uncertain significance rs886057559 GRCh37 Chromosome 22, 41545036: 41545038
307 EP300 NM_001429.3(EP300): c.2393G> A (p.Ser798Asn) single nucleotide variant Uncertain significance rs781326261 GRCh38 Chromosome 22, 41149774: 41149774
308 EP300 NM_001429.3(EP300): c.2393G> A (p.Ser798Asn) single nucleotide variant Uncertain significance rs781326261 GRCh37 Chromosome 22, 41545778: 41545778
309 EP300 NM_001429.3(EP300): c.2629G> A (p.Ala877Thr) single nucleotide variant Uncertain significance rs772289466 GRCh38 Chromosome 22, 41150010: 41150010
310 EP300 NM_001429.3(EP300): c.2629G> A (p.Ala877Thr) single nucleotide variant Uncertain significance rs772289466 GRCh37 Chromosome 22, 41546014: 41546014
311 EP300 NM_001429.3(EP300): c.2931G> C (p.Lys977Asn) single nucleotide variant Uncertain significance rs749225428 GRCh38 Chromosome 22, 41151946: 41151946
312 EP300 NM_001429.3(EP300): c.2931G> C (p.Lys977Asn) single nucleotide variant Uncertain significance rs749225428 GRCh37 Chromosome 22, 41547950: 41547950
313 EP300 NM_001429.3(EP300): c.3162A> G (p.Leu1054=) single nucleotide variant Likely benign rs139758629 GRCh37 Chromosome 22, 41551018: 41551018
314 EP300 NM_001429.3(EP300): c.3162A> G (p.Leu1054=) single nucleotide variant Likely benign rs139758629 GRCh38 Chromosome 22, 41155014: 41155014
315 EP300 NM_001429.3(EP300): c.4824C> G (p.Ser1608=) single nucleotide variant Likely benign rs199994113 GRCh37 Chromosome 22, 41572295: 41572295
316 EP300 NM_001429.3(EP300): c.4824C> G (p.Ser1608=) single nucleotide variant Likely benign rs199994113 GRCh38 Chromosome 22, 41176291: 41176291
317 EP300 NM_001429.3(EP300): c.5061+7A> G single nucleotide variant Uncertain significance rs886057563 GRCh38 Chromosome 22, 41176535: 41176535
318 EP300 NM_001429.3(EP300): c.5061+7A> G single nucleotide variant Uncertain significance rs886057563 GRCh37 Chromosome 22, 41572539: 41572539
319 EP300 NM_001429.3(EP300): c.5604G> A (p.Thr1868=) single nucleotide variant Uncertain significance rs200795114 GRCh37 Chromosome 22, 41573319: 41573319
320 EP300 NM_001429.3(EP300): c.5604G> A (p.Thr1868=) single nucleotide variant Uncertain significance rs200795114 GRCh38 Chromosome 22, 41177315: 41177315
321 EP300 NM_001429.3(EP300): c.5644A> G (p.Ser1882Gly) single nucleotide variant Uncertain significance rs769796204 GRCh37 Chromosome 22, 41573359: 41573359
322 EP300 NM_001429.3(EP300): c.5644A> G (p.Ser1882Gly) single nucleotide variant Uncertain significance rs769796204 GRCh38 Chromosome 22, 41177355: 41177355
323 EP300 NM_001429.3(EP300): c.5889C> T (p.Ala1963=) single nucleotide variant Uncertain significance rs886057566 GRCh37 Chromosome 22, 41573604: 41573604
324 EP300 NM_001429.3(EP300): c.5889C> T (p.Ala1963=) single nucleotide variant Uncertain significance rs886057566 GRCh38 Chromosome 22, 41177600: 41177600
325 EP300 NM_001429.3(EP300): c.*40_*44delCTCTT deletion Uncertain significance rs886057572 GRCh38 Chromosome 22, 41178996: 41179000
326 EP300 NM_001429.3(EP300): c.*40_*44delCTCTT deletion Uncertain significance rs886057572 GRCh37 Chromosome 22, 41575000: 41575004
327 EP300 NM_001429.3(EP300): c.*552G> A single nucleotide variant Uncertain significance rs886057574 GRCh38 Chromosome 22, 41179508: 41179508
328 EP300 NM_001429.3(EP300): c.*552G> A single nucleotide variant Uncertain significance rs886057574 GRCh37 Chromosome 22, 41575512: 41575512
329 EP300 NM_001429.3(EP300): c.*559A> G single nucleotide variant Uncertain significance rs886057575 GRCh38 Chromosome 22, 41179515: 41179515
330 EP300 NM_001429.3(EP300): c.*559A> G single nucleotide variant Uncertain significance rs886057575 GRCh37 Chromosome 22, 41575519: 41575519
331 EP300 NM_001429.3(EP300): c.*921dupC duplication Uncertain significance rs886057578 GRCh37 Chromosome 22, 41575881: 41575881
332 EP300 NM_001429.3(EP300): c.*921dupC duplication Uncertain significance rs886057578 GRCh38 Chromosome 22, 41179877: 41179877
333 EP300 NM_001429.3(EP300): c.*922_*942del21insCC indel Uncertain significance rs886057582 GRCh37 Chromosome 22, 41575882: 41575902
334 EP300 NM_001429.3(EP300): c.*922_*942del21insCC indel Uncertain significance rs886057582 GRCh38 Chromosome 22, 41179878: 41179898
335 EP300 NM_001429.3(EP300): c.*924T> A single nucleotide variant Uncertain significance rs149250603 GRCh37 Chromosome 22, 41575884: 41575884
336 EP300 NM_001429.3(EP300): c.*924T> A single nucleotide variant Uncertain significance rs149250603 GRCh38 Chromosome 22, 41179880: 41179880
337 EP300 NM_001429.3(EP300): c.*938A> C single nucleotide variant Uncertain significance rs886057586 GRCh37 Chromosome 22, 41575898: 41575898
338 EP300 NM_001429.3(EP300): c.*938A> C single nucleotide variant Uncertain significance rs886057586 GRCh38 Chromosome 22, 41179894: 41179894
339 EP300 NM_001429.3(EP300): c.*942A> C single nucleotide variant Uncertain significance rs754018515 GRCh37 Chromosome 22, 41575902: 41575902
340 EP300 NM_001429.3(EP300): c.*942A> C single nucleotide variant Uncertain significance rs754018515 GRCh38 Chromosome 22, 41179898: 41179898
341 EP300 NM_001429.3(EP300): c.*968T> A single nucleotide variant Uncertain significance rs3210590 GRCh38 Chromosome 22, 41179924: 41179924
342 EP300 NM_001429.3(EP300): c.*968T> A single nucleotide variant Uncertain significance rs3210590 GRCh37 Chromosome 22, 41575928: 41575928
343 EP300 NM_001429.3(EP300): c.-238T> C single nucleotide variant Uncertain significance rs886057551 GRCh37 Chromosome 22, 41488771: 41488771
344 EP300 NM_001429.3(EP300): c.-238T> C single nucleotide variant Uncertain significance rs886057551 GRCh38 Chromosome 22, 41092767: 41092767
345 EP300 NM_001429.3(EP300): c.-212C> T single nucleotide variant Uncertain significance rs886057553 GRCh37 Chromosome 22, 41488797: 41488797
346 EP300 NM_001429.3(EP300): c.-212C> T single nucleotide variant Uncertain significance rs886057553 GRCh38 Chromosome 22, 41092793: 41092793
347 EP300 NM_001429.3(EP300): c.-133A> G single nucleotide variant Likely benign rs116913445 GRCh37 Chromosome 22, 41488876: 41488876
348 EP300 NM_001429.3(EP300): c.-133A> G single nucleotide variant Likely benign rs116913445 GRCh38 Chromosome 22, 41092872: 41092872
349 EP300 NM_001429.3(EP300): c.94+13A> G single nucleotide variant Likely benign rs201124490 GRCh37 Chromosome 22, 41489115: 41489115
350 EP300 NM_001429.3(EP300): c.94+13A> G single nucleotide variant Likely benign rs201124490 GRCh38 Chromosome 22, 41093111: 41093111
351 EP300 NM_001429.3(EP300): c.678C> G (p.Gly226=) single nucleotide variant Benign/Likely benign rs147244947 GRCh38 Chromosome 22, 41117770: 41117770
352 EP300 NM_001429.3(EP300): c.678C> G (p.Gly226=) single nucleotide variant Benign/Likely benign rs147244947 GRCh37 Chromosome 22, 41513774: 41513774
353 EP300 NM_001429.3(EP300): c.781C> T (p.Pro261Ser) single nucleotide variant Uncertain significance rs753462821 GRCh38 Chromosome 22, 41125915: 41125915
354 EP300 NM_001429.3(EP300): c.781C> T (p.Pro261Ser) single nucleotide variant Uncertain significance rs753462821 GRCh37 Chromosome 22, 41521919: 41521919
355 EP300 NM_001429.3(EP300): c.1528+15T> C single nucleotide variant Likely benign rs200147263 GRCh38 Chromosome 22, 41131648: 41131648
356 EP300 NM_001429.3(EP300): c.1528+15T> C single nucleotide variant Likely benign rs200147263 GRCh37 Chromosome 22, 41527652: 41527652
357 EP300 NM_001429.3(EP300): c.2131+13A> T single nucleotide variant Uncertain significance rs886057558 GRCh38 Chromosome 22, 41146829: 41146829
358 EP300 NM_001429.3(EP300): c.2131+13A> T single nucleotide variant Uncertain significance rs886057558 GRCh37 Chromosome 22, 41542833: 41542833
359 EP300 NM_001429.3(EP300): c.2787A> G (p.Ala929=) single nucleotide variant Conflicting interpretations of pathogenicity rs143690368 GRCh38 Chromosome 22, 41150168: 41150168
360 EP300 NM_001429.3(EP300): c.2787A> G (p.Ala929=) single nucleotide variant Conflicting interpretations of pathogenicity rs143690368 GRCh37 Chromosome 22, 41546172: 41546172
361 EP300 NM_001429.3(EP300): c.3624C> A (p.Ile1208=) single nucleotide variant Likely benign rs143660871 GRCh37 Chromosome 22, 41556679: 41556679
362 EP300 NM_001429.3(EP300): c.3624C> A (p.Ile1208=) single nucleotide variant Likely benign rs143660871 GRCh38 Chromosome 22, 41160675: 41160675
363 EP300 NM_001429.3(EP300): c.4026-7T> C single nucleotide variant Likely benign rs187388966 GRCh37 Chromosome 22, 41564718: 41564718
364 EP300 NM_001429.3(EP300): c.4026-7T> C single nucleotide variant Likely benign rs187388966 GRCh38 Chromosome 22, 41168714: 41168714
365 EP300 NM_001429.3(EP300): c.5028T> C (p.His1676=) single nucleotide variant Uncertain significance rs747152661 GRCh38 Chromosome 22, 41176495: 41176495
366 EP300 NM_001429.3(EP300): c.5028T> C (p.His1676=) single nucleotide variant Uncertain significance rs747152661 GRCh37 Chromosome 22, 41572499: 41572499
367 EP300 NM_001429.3(EP300): c.5172C> A (p.Thr1724=) single nucleotide variant Uncertain significance rs142330184 GRCh37 Chromosome 22, 41572887: 41572887
368 EP300 NM_001429.3(EP300): c.5172C> A (p.Thr1724=) single nucleotide variant Uncertain significance rs142330184 GRCh38 Chromosome 22, 41176883: 41176883
369 EP300 NM_001429.3(EP300): c.5179C> T (p.Pro1727Ser) single nucleotide variant Uncertain significance rs886057564 GRCh37 Chromosome 22, 41572894: 41572894
370 EP300 NM_001429.3(EP300): c.5179C> T (p.Pro1727Ser) single nucleotide variant Uncertain significance rs886057564 GRCh38 Chromosome 22, 41176890: 41176890
371 EP300 NM_001429.3(EP300): c.6358G> T (p.Gly2120Cys) single nucleotide variant Uncertain significance rs886057567 GRCh37 Chromosome 22, 41574073: 41574073
372 EP300 NM_001429.3(EP300): c.6358G> T (p.Gly2120Cys) single nucleotide variant Uncertain significance rs886057567 GRCh38 Chromosome 22, 41178069: 41178069
373 EP300 NM_001429.3(EP300): c.6374A> G (p.His2125Arg) single nucleotide variant Uncertain significance rs886057568 GRCh37 Chromosome 22, 41574089: 41574089
374 EP300 NM_001429.3(EP300): c.6374A> G (p.His2125Arg) single nucleotide variant Uncertain significance rs886057568 GRCh38 Chromosome 22, 41178085: 41178085
375 EP300 NM_001429.3(EP300): c.6395A> T (p.Asn2132Ile) single nucleotide variant Uncertain significance rs886057569 GRCh37 Chromosome 22, 41574110: 41574110
376 EP300 NM_001429.3(EP300): c.6395A> T (p.Asn2132Ile) single nucleotide variant Uncertain significance rs886057569 GRCh38 Chromosome 22, 41178106: 41178106
377 EP300 NM_001429.3(EP300): c.6417C> T (p.Gly2139=) single nucleotide variant Likely benign rs111315183 GRCh37 Chromosome 22, 41574132: 41574132
378 EP300 NM_001429.3(EP300): c.6417C> T (p.Gly2139=) single nucleotide variant Likely benign rs111315183 GRCh38 Chromosome 22, 41178128: 41178128
379 EP300 NM_001429.3(EP300): c.6526C> T (p.Pro2176Ser) single nucleotide variant Uncertain significance rs779543207 GRCh38 Chromosome 22, 41178237: 41178237
380 EP300 NM_001429.3(EP300): c.6526C> T (p.Pro2176Ser) single nucleotide variant Uncertain significance rs779543207 GRCh37 Chromosome 22, 41574241: 41574241
381 EP300 NM_001429.3(EP300): c.6969C> G (p.Pro2323=) single nucleotide variant Benign/Likely benign rs111489369 GRCh38 Chromosome 22, 41178680: 41178680
382 EP300 NM_001429.3(EP300): c.6969C> G (p.Pro2323=) single nucleotide variant Benign/Likely benign rs111489369 GRCh37 Chromosome 22, 41574684: 41574684
383 EP300 NM_001429.3(EP300): c.*137C> T single nucleotide variant Likely benign rs113567138 GRCh38 Chromosome 22, 41179093: 41179093
384 EP300 NM_001429.3(EP300): c.*137C> T single nucleotide variant Likely benign rs113567138 GRCh37 Chromosome 22, 41575097: 41575097
385 EP300 NM_001429.3(EP300): c.*298A> G single nucleotide variant Likely benign rs552755933 GRCh38 Chromosome 22, 41179254: 41179254
386 EP300 NM_001429.3(EP300): c.*298A> G single nucleotide variant Likely benign rs552755933 GRCh37 Chromosome 22, 41575258: 41575258
387 EP300 NM_001429.3(EP300): c.*352C> T single nucleotide variant Likely benign rs577686550 GRCh38 Chromosome 22, 41179308: 41179308
388 EP300 NM_001429.3(EP300): c.*352C> T single nucleotide variant Likely benign rs577686550 GRCh37 Chromosome 22, 41575312: 41575312
389 EP300 NM_001429.3(EP300): c.*568A> G single nucleotide variant Likely benign rs533563820 GRCh38 Chromosome 22, 41179524: 41179524
390 EP300 NM_001429.3(EP300): c.*568A> G single nucleotide variant Likely benign rs533563820 GRCh37 Chromosome 22, 41575528: 41575528
391 EP300 NM_001429.3(EP300): c.*591_*592dupAA duplication Uncertain significance rs398037214 GRCh38 Chromosome 22, 41179547: 41179548
392 EP300 NM_001429.3(EP300): c.*591_*592dupAA duplication Uncertain significance rs398037214 GRCh37 Chromosome 22, 41575551: 41575552
393 EP300 NM_001429.3(EP300): c.*785_*786delTT deletion Uncertain significance rs886057577 GRCh37 Chromosome 22, 41575745: 41575746
394 EP300 NM_001429.3(EP300): c.*785_*786delTT deletion Uncertain significance rs886057577 GRCh38 Chromosome 22, 41179741: 41179742
395 EP300 NM_001429.3(EP300): c.*815A> C single nucleotide variant Likely benign rs572918594 GRCh37 Chromosome 22, 41575775: 41575775
396 EP300 NM_001429.3(EP300): c.*815A> C single nucleotide variant Likely benign rs572918594 GRCh38 Chromosome 22, 41179771: 41179771
397 EP300 NM_001429.3(EP300): c.*922_*930delACTCACACAinsC indel Uncertain significance rs886057579 GRCh37 Chromosome 22, 41575882: 41575890
398 EP300 NM_001429.3(EP300): c.*922_*930delACTCACACAinsC indel Uncertain significance rs886057579 GRCh38 Chromosome 22, 41179878: 41179886
399 EP300 NM_001429.3(EP300): c.*922_*930delACTCACACAinsCCC indel Uncertain significance rs886057579 GRCh37 Chromosome 22, 41575882: 41575890
400 EP300 NM_001429.3(EP300): c.*922_*930delACTCACACAinsCCC indel Uncertain significance rs886057579 GRCh38 Chromosome 22, 41179878: 41179886
401 EP300 NM_001429.3(EP300): c.*922_*942del21insC indel Uncertain significance rs886057582 GRCh37 Chromosome 22, 41575882: 41575902
402 EP300 NM_001429.3(EP300): c.*922_*942del21insC indel Uncertain significance rs886057582 GRCh38 Chromosome 22, 41179878: 41179898
403 EP300 NM_001429.3(EP300): c.*930A> C single nucleotide variant Uncertain significance rs879634387 GRCh37 Chromosome 22, 41575890: 41575890
404 EP300 NM_001429.3(EP300): c.*930A> C single nucleotide variant Uncertain significance rs879634387 GRCh38 Chromosome 22, 41179886: 41179886
405 EP300 NM_001429.3(EP300): c.*966_*967dupAC duplication Uncertain significance rs59721178 GRCh38 Chromosome 22, 41179922: 41179923
406 EP300 NM_001429.3(EP300): c.*966_*967dupAC duplication Uncertain significance rs59721178 GRCh37 Chromosome 22, 41575926: 41575927
407 EP300 NM_001429.3(EP300): c.-363A> C single nucleotide variant Uncertain significance rs886057550 GRCh37 Chromosome 22, 41488646: 41488646
408 EP300 NM_001429.3(EP300): c.-363A> C single nucleotide variant Uncertain significance rs886057550 GRCh38 Chromosome 22, 41092642: 41092642
409 EP300 NM_001429.3(EP300): c.-237C> T single nucleotide variant Uncertain significance rs886057552 GRCh37 Chromosome 22, 41488772: 41488772
410 EP300 NM_001429.3(EP300): c.-237C> T single nucleotide variant Uncertain significance rs886057552 GRCh38 Chromosome 22, 41092768: 41092768
411 EP300 NM_001429.3(EP300): c.-139A> G single nucleotide variant Uncertain significance rs886057554 GRCh37 Chromosome 22, 41488870: 41488870
412 EP300 NM_001429.3(EP300): c.-139A> G single nucleotide variant Uncertain significance rs886057554 GRCh38 Chromosome 22, 41092866: 41092866
413 EP300 NM_001429.3(EP300): c.615G> A (p.Met205Ile) single nucleotide variant Uncertain significance rs766306644 GRCh37 Chromosome 22, 41513711: 41513711
414 EP300 NM_001429.3(EP300): c.615G> A (p.Met205Ile) single nucleotide variant Uncertain significance rs766306644 GRCh38 Chromosome 22, 41117707: 41117707
415 EP300 NM_001429.3(EP300): c.1784C> T (p.Pro595Leu) single nucleotide variant Uncertain significance rs886057557 GRCh38 Chromosome 22, 41140163: 41140163
416 EP300 NM_001429.3(EP300): c.1784C> T (p.Pro595Leu) single nucleotide variant Uncertain significance rs886057557 GRCh37 Chromosome 22, 41536167: 41536167
417 EP300 NM_001429.3(EP300): c.1990A> G (p.Met664Val) single nucleotide variant Likely benign rs529145180 GRCh38 Chromosome 22, 41141159: 41141159
418 EP300 NM_001429.3(EP300): c.1990A> G (p.Met664Val) single nucleotide variant Likely benign rs529145180 GRCh37 Chromosome 22, 41537163: 41537163
419 EP300 NM_001429.3(EP300): c.2536C> T (p.Pro846Ser) single nucleotide variant Uncertain significance rs886057560 GRCh38 Chromosome 22, 41149917: 41149917
420 EP300 NM_001429.3(EP300): c.2536C> T (p.Pro846Ser) single nucleotide variant Uncertain significance rs886057560 GRCh37 Chromosome 22, 41545921: 41545921
421 EP300 NM_001429.3(EP300): c.6798_6800delGCA (p.Gln2268del) deletion Likely benign rs533875300 GRCh38 Chromosome 22, 41178509: 41178511
422 EP300 NM_001429.3(EP300): c.6798_6800delGCA (p.Gln2268del) deletion Likely benign rs533875300 GRCh37 Chromosome 22, 41574513: 41574515
423 EP300 NM_001429.3(EP300): c.6912C> T (p.Ser2304=) single nucleotide variant Likely benign rs113329190 GRCh38 Chromosome 22, 41178623: 41178623
424 EP300 NM_001429.3(EP300): c.6912C> T (p.Ser2304=) single nucleotide variant Likely benign rs113329190 GRCh37 Chromosome 22, 41574627: 41574627
425 EP300 NM_001429.3(EP300): c.6984C> A (p.Ser2328=) single nucleotide variant Likely benign rs200478275 GRCh38 Chromosome 22, 41178695: 41178695
426 EP300 NM_001429.3(EP300): c.6984C> A (p.Ser2328=) single nucleotide variant Likely benign rs200478275 GRCh37 Chromosome 22, 41574699: 41574699
427 EP300 NM_001429.3(EP300): c.7017C> T (p.His2339=) single nucleotide variant Uncertain significance rs759571982 GRCh38 Chromosome 22, 41178728: 41178728
428 EP300 NM_001429.3(EP300): c.7017C> T (p.His2339=) single nucleotide variant Uncertain significance rs759571982 GRCh37 Chromosome 22, 41574732: 41574732
429 EP300 NM_001429.3(EP300): c.7136A> G (p.Asn2379Ser) single nucleotide variant Uncertain significance rs886057571 GRCh38 Chromosome 22, 41178847: 41178847
430 EP300 NM_001429.3(EP300): c.7136A> G (p.Asn2379Ser) single nucleotide variant Uncertain significance rs886057571 GRCh37 Chromosome 22, 41574851: 41574851
431 EP300 NM_001429.3(EP300): c.*52C> G single nucleotide variant Likely benign rs542406106 GRCh38 Chromosome 22, 41179008: 41179008
432 EP300 NM_001429.3(EP300): c.*52C> G single nucleotide variant Likely benign rs542406106 GRCh37 Chromosome 22, 41575012: 41575012
433 EP300 NM_001429.3(EP300): c.*745delG deletion Uncertain significance rs532524940 GRCh38 Chromosome 22, 41179701: 41179701
434 EP300 NM_001429.3(EP300): c.*745delG deletion Uncertain significance rs532524940 GRCh37 Chromosome 22, 41575705: 41575705
435 EP300 NM_001429.3(EP300): c.*844G> A single nucleotide variant Uncertain significance rs532999218 GRCh37 Chromosome 22, 41575804: 41575804
436 EP300 NM_001429.3(EP300): c.*844G> A single nucleotide variant Uncertain significance rs532999218 GRCh38 Chromosome 22, 41179800: 41179800
437 EP300 NM_001429.3(EP300): c.*922A> C single nucleotide variant Uncertain significance rs146984033 GRCh37 Chromosome 22, 41575882: 41575882
438 EP300 NM_001429.3(EP300): c.*922A> C single nucleotide variant Uncertain significance rs146984033 GRCh38 Chromosome 22, 41179878: 41179878
439 EP300 NM_001429.3(EP300): c.*924T> C single nucleotide variant Uncertain significance rs149250603 GRCh37 Chromosome 22, 41575884: 41575884
440 EP300 NM_001429.3(EP300): c.*924T> C single nucleotide variant Uncertain significance rs149250603 GRCh38 Chromosome 22, 41179880: 41179880
441 EP300 NM_001429.3(EP300): c.*932A> C single nucleotide variant Uncertain significance rs886057585 GRCh37 Chromosome 22, 41575892: 41575892
442 EP300 NM_001429.3(EP300): c.*932A> C single nucleotide variant Uncertain significance rs886057585 GRCh38 Chromosome 22, 41179888: 41179888
443 EP300 NM_001429.3(EP300): c.*962_*967delACACAC deletion Uncertain significance rs886057584 GRCh37 Chromosome 22, 41575922: 41575927
444 EP300 NM_001429.3(EP300): c.*962_*967delACACAC deletion Uncertain significance rs886057584 GRCh38 Chromosome 22, 41179918: 41179923
445 EP300 NM_001429.3(EP300): c.*1083_*1085delCTT deletion Likely benign rs886057587 GRCh38 Chromosome 22, 41180039: 41180041
446 EP300 NM_001429.3(EP300): c.*1083_*1085delCTT deletion Likely benign rs886057587 GRCh37 Chromosome 22, 41576043: 41576045
447 CREBBP NG_009873.1: g.(?_5000)_(160068_?)del deletion Pathogenic GRCh38 Chromosome 16, 3725053: 3880121
448 CREBBP NG_009873.1: g.(?_5000)_(160068_?)del deletion Pathogenic GRCh37 Chromosome 16, 3775054: 3930122
449 CREBBP NM_004380.2(CREBBP): c.6324C> A (p.Tyr2108Ter) single nucleotide variant Likely pathogenic rs199821421 GRCh37 Chromosome 16, 3778724: 3778724
450 CREBBP NM_004380.2(CREBBP): c.6324C> A (p.Tyr2108Ter) single nucleotide variant Likely pathogenic rs199821421 GRCh38 Chromosome 16, 3728723: 3728723
451 CREBBP NM_004380.2(CREBBP): c.3914+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3745276: 3745276
452 CREBBP NM_004380.2(CREBBP): c.3914+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3795277: 3795277
453 CREBBP NM_004380.2(CREBBP): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3842075: 3842075
454 CREBBP NM_004380.2(CREBBP): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3792074: 3792074
455 CREBBP NM_004380.2(CREBBP): c.6275C> G (p.Ser2092Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 16, 3728772: 3728772
456 CREBBP NM_004380.2(CREBBP): c.6275C> G (p.Ser2092Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 16, 3778773: 3778773
457 CREBBP NM_004380.2(CREBBP): c.5694_5703delCACACCCCAG (p.Ser1898Argfs) deletion Pathogenic GRCh37 Chromosome 16, 3779345: 3779354
458 CREBBP NM_004380.2(CREBBP): c.5694_5703delCACACCCCAG (p.Ser1898Argfs) deletion Pathogenic GRCh38 Chromosome 16, 3729344: 3729353
459 CREBBP NM_004380.2(CREBBP): c.4644_4645delGT (p.Leu1549Argfs) deletion Pathogenic GRCh37 Chromosome 16, 3786120: 3786121
460 CREBBP NM_004380.2(CREBBP): c.4644_4645delGT (p.Leu1549Argfs) deletion Pathogenic GRCh38 Chromosome 16, 3736119: 3736120
461 CREBBP NM_004380.2(CREBBP): c.879G> A (p.Val293=) single nucleotide variant Likely benign rs144344016 GRCh37 Chromosome 16, 3860700: 3860700
462 CREBBP NM_004380.2(CREBBP): c.879G> A (p.Val293=) single nucleotide variant Likely benign rs144344016 GRCh38 Chromosome 16, 3810699: 3810699
463 CREBBP NM_004380.2(CREBBP): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3900588: 3900588
464 CREBBP NM_004380.2(CREBBP): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3850587: 3850587
465 CREBBP NM_004380.2(CREBBP): c.472delC (p.Gln158Lysfs) deletion Pathogenic GRCh38 Chromosome 16, 3850623: 3850623
466 CREBBP NM_004380.2(CREBBP): c.472delC (p.Gln158Lysfs) deletion Pathogenic GRCh37 Chromosome 16, 3900624: 3900624
467 CREBBP NM_004380.2(CREBBP): c.7245C> T (p.Pro2415=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 3777803: 3777803
468 CREBBP NM_004380.2(CREBBP): c.7245C> T (p.Pro2415=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 3727802: 3727802
469 CREBBP NM_004380.2(CREBBP): c.5051C> A (p.Ser1684Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 3781314: 3781314
470 CREBBP NM_004380.2(CREBBP): c.5051C> A (p.Ser1684Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 3731313: 3731313
471 CREBBP NM_004380.2(CREBBP): c.6071C> T (p.Ala2024Val) single nucleotide variant Uncertain significance rs745551441 GRCh37 Chromosome 16, 3778977: 3778977
472 CREBBP NM_004380.2(CREBBP): c.6071C> T (p.Ala2024Val) single nucleotide variant Uncertain significance rs745551441 GRCh38 Chromosome 16, 3728976: 3728976
473 CREBBP NM_004380.2(CREBBP): c.1447C> T (p.Arg483Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3832811: 3832811
474 CREBBP NM_004380.2(CREBBP): c.1447C> T (p.Arg483Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3782810: 3782810
475 EP300 NM_001429.3(EP300): c.3262-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 22, 41553171: 41553171
476 EP300 NM_001429.3(EP300): c.3262-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 22, 41157167: 41157167
477 CREBBP NM_004380.2(CREBBP): c.4509C> G (p.Tyr1503Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3786702: 3786702
478 CREBBP NM_004380.2(CREBBP): c.4509C> G (p.Tyr1503Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3736701: 3736701
479 CREBBP NM_004380.2(CREBBP): c.2031delC (p.Ile678Serfs) deletion Likely pathogenic GRCh38 Chromosome 16, 3778093: 3778093
480 CREBBP NM_004380.2(CREBBP): c.2031delC (p.Ile678Serfs) deletion Likely pathogenic GRCh37 Chromosome 16, 3828094: 3828094
481 CREBBP NM_004380.2(CREBBP): c.7261_*247del316insC indel Likely pathogenic GRCh37 Chromosome 16, 3777472: 3777787
482 CREBBP NM_004380.2(CREBBP): c.7261_*247del316insC indel Likely pathogenic GRCh38 Chromosome 16, 3727471: 3727786
483 CREBBP NM_004380.2(CREBBP): c.2314C> A (p.Pro772Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 3823901: 3823901
484 CREBBP NM_004380.2(CREBBP): c.2314C> A (p.Pro772Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 3773900: 3773900
485 CREBBP NC_000016.10: g.(?_3744874)_(3758992_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 3794875: 3808993
486 CREBBP NC_000016.10: g.(?_3744874)_(3758992_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 3744874: 3758992
487 CREBBP NC_000016.10: g.(?_3736630)_(3740569_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 3786631: 3790570
488 CREBBP NC_000016.10: g.(?_3736630)_(3740569_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 3736630: 3740569
489 CREBBP NM_004380.2(CREBBP): c.5014A> T (p.Arg1672Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3731350: 3731350
490 CREBBP NM_004380.2(CREBBP): c.5014A> T (p.Arg1672Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3781351: 3781351
491 CREBBP NM_004380.2(CREBBP): c.4663G> T (p.Glu1555Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3736101: 3736101
492 CREBBP NM_004380.2(CREBBP): c.4663G> T (p.Glu1555Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3786102: 3786102
493 CREBBP NM_004380.2(CREBBP): c.4230dup (p.Gly1411Trpfs) duplication Pathogenic GRCh37 Chromosome 16, 3789629: 3789629
494 CREBBP NM_004380.2(CREBBP): c.4230dup (p.Gly1411Trpfs) duplication Pathogenic GRCh38 Chromosome 16, 3739628: 3739628
495 CREBBP NM_004380.2(CREBBP): c.3985C> T (p.Leu1329=) single nucleotide variant Likely benign rs149055008 GRCh37 Chromosome 16, 3790548: 3790548
496 CREBBP NM_004380.2(CREBBP): c.3985C> T (p.Leu1329=) single nucleotide variant Likely benign rs149055008 GRCh38 Chromosome 16, 3740547: 3740547
497 CREBBP NM_004380.2(CREBBP): c.1089T> C (p.His363=) single nucleotide variant Likely benign rs969407052 GRCh37 Chromosome 16, 3843514: 3843514
498 CREBBP NM_004380.2(CREBBP): c.1089T> C (p.His363=) single nucleotide variant Likely benign rs969407052 GRCh38 Chromosome 16, 3793513: 3793513
499 CREBBP NM_004380.2(CREBBP): c.4394G> A (p.Gly1465Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3788560: 3788560
500 CREBBP NM_004380.2(CREBBP): c.4394G> A (p.Gly1465Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3738559: 3738559
501 CREBBP NM_004380.2(CREBBP): c.1941+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 3828700: 3828700
502 CREBBP NM_004380.2(CREBBP): c.1941+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 3778699: 3778699
503 CREBBP NM_004380.2(CREBBP): c.6444C> T (p.Gly2148=) single nucleotide variant Uncertain significance rs148539895 GRCh37 Chromosome 16, 3778604: 3778604
504 CREBBP NM_004380.2(CREBBP): c.6444C> T (p.Gly2148=) single nucleotide variant Uncertain significance rs148539895 GRCh38 Chromosome 16, 3728603: 3728603
505 CREBBP NM_004380.2(CREBBP): c.4421_4422delGTinsTC (p.Cys1474Phe) indel Uncertain significance GRCh38 Chromosome 16, 3736788: 3736789
506 CREBBP NM_004380.2(CREBBP): c.4421_4422delGTinsTC (p.Cys1474Phe) indel Uncertain significance GRCh37 Chromosome 16, 3786789: 3786790
507 CREBBP NM_004380.2(CREBBP): c.2193C> T (p.Asn731=) single nucleotide variant Likely benign rs746813014 GRCh38 Chromosome 16, 3774659: 3774659
508 CREBBP NM_004380.2(CREBBP): c.2193C> T (p.Asn731=) single nucleotide variant Likely benign rs746813014 GRCh37 Chromosome 16, 3824660: 3824660
509 CREBBP NM_004380.2(CREBBP): c.2141G> T (p.Arg714Leu) single nucleotide variant Uncertain significance rs141098117 GRCh37 Chromosome 16, 3827631: 3827631
510 CREBBP NM_004380.2(CREBBP): c.2141G> T (p.Arg714Leu) single nucleotide variant Uncertain significance rs141098117 GRCh38 Chromosome 16, 3777630: 3777630

Expression for Rubinstein-Taybi Syndrome 1

Search GEO for disease gene expression data for Rubinstein-Taybi Syndrome 1.

Pathways for Rubinstein-Taybi Syndrome 1

Pathways related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

(showing 73, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 CREBBP EP300
2
Show member pathways
12.34 CREBBP EP300
3
Show member pathways
12.28 CREBBP EP300
4
Show member pathways
12.26 CREBBP EP300
5
Show member pathways
12.25 CREBBP EP300
6 12.21 CREBBP EP300
7
Show member pathways
12.2 CREBBP EP300
8
Show member pathways
12.19 CREBBP EP300
9
Show member pathways
12.18 CREBBP EP300
10
Show member pathways
12.14 CREBBP EP300
11
Show member pathways
12.14 CREBBP EP300
12 12.14 CREBBP EP300
13 12.13 CREBBP EP300
14 12.09 CREBBP EP300
15
Show member pathways
12.07 CREBBP EP300
16
Show member pathways
12.05 CREBBP EP300
17
Show member pathways
12.02 CREBBP EP300
18 12.02 CREBBP EP300
19 12.02 CREBBP EP300
20
Show member pathways
11.97 CREBBP EP300
21 11.96 CREBBP EP300
22
Show member pathways
11.95 CREBBP EP300
23
Show member pathways
11.94 CREBBP EP300
24
Show member pathways
11.93 CREBBP EP300
25
Show member pathways
11.92 CREBBP EP300
26 11.91 CREBBP EP300
27
Show member pathways
11.9 CREBBP EP300
28 11.89 CREBBP EP300
29
Show member pathways
11.83 CREBBP EP300
30 11.81 CREBBP EP300
31 11.81 CREBBP EP300
32 11.79 CREBBP EP300
33
Show member pathways
11.78 CREBBP EP300
34
Show member pathways
11.76 CREBBP EP300
35 11.74 CREBBP EP300
36 11.69 CREBBP EP300
37 11.67 CREBBP EP300
38
Show member pathways
11.64 CREBBP EP300
39 11.62 CREBBP EP300
40 11.61 CREBBP EP300
41 11.58 CREBBP EP300
42
Show member pathways
11.57 CREBBP EP300
43 11.56 CREBBP EP300
44 11.56 CREBBP EP300
45 11.53 CREBBP EP300
46 11.52 CREBBP EP300
47 11.5 CREBBP EP300
48 11.49 CREBBP EP300
49 11.48 CREBBP EP300
50
Show member pathways
11.46 CREBBP EP300
51 11.43 CREBBP EP300
52 11.42 CREBBP EP300
53 11.41 CREBBP EP300
54 11.36 CREBBP EP300
55 11.35 CREBBP EP300
56 11.32 CREBBP EP300
57 11.3 CREBBP EP300
58
Show member pathways
11.29 CREBBP EP300
59 11.26 CREBBP EP300
60
Show member pathways
11.24 CREBBP EP300
61 11.22 CREBBP EP300
62 11.19 CREBBP EP300
63 11.18 CREBBP EP300
64
Show member pathways
11.14 CREBBP EP300
65 11.07 CREBBP EP300
66
Show member pathways
11.02 CREBBP EP300
67 11 CREBBP EP300
68 10.94 CREBBP EP300
69 10.89 CREBBP EP300
70
Show member pathways
10.81 CREBBP EP300
71 10.69 CREBBP EP300
72 10.3 CREBBP EP300
73 9.97 CREBBP EP300

GO Terms for Rubinstein-Taybi Syndrome 1

Cellular components related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase complex GO:0000123 8.62 CREBBP EP300

Biological processes related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.55 CREBBP EP300
2 rhythmic process GO:0048511 9.54 CREBBP EP300
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.52 CREBBP EP300
4 Notch signaling pathway GO:0007219 9.51 CREBBP EP300
5 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 9.49 CREBBP EP300
6 regulation of cellular response to heat GO:1900034 9.48 CREBBP EP300
7 positive regulation of type I interferon production GO:0032481 9.46 CREBBP EP300
8 cellular response to UV GO:0034644 9.43 CREBBP EP300
9 histone acetylation GO:0016573 9.4 CREBBP EP300
10 positive regulation of Notch signaling pathway GO:0045747 9.37 CREBBP EP300
11 protein destabilization GO:0031648 9.32 CREBBP EP300
12 beta-catenin-TCF complex assembly GO:1904837 9.26 CREBBP EP300
13 positive regulation of transcription of Notch receptor target GO:0007221 9.16 CREBBP EP300
14 protein acetylation GO:0006473 8.96 CREBBP EP300
15 N-terminal peptidyl-lysine acetylation GO:0018076 8.62 CREBBP EP300

Molecular functions related to Rubinstein-Taybi Syndrome 1 according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.49 CREBBP EP300
2 transcription coactivator activity GO:0003713 9.48 CREBBP EP300
3 transferase activity, transferring acyl groups GO:0016746 9.46 CREBBP EP300
4 transcription coregulator activity GO:0003712 9.43 CREBBP EP300
5 p53 binding GO:0002039 9.4 CREBBP EP300
6 damaged DNA binding GO:0003684 9.37 CREBBP EP300
7 RNA polymerase II transcription factor binding GO:0001085 9.32 CREBBP EP300
8 histone acetyltransferase activity GO:0004402 9.26 CREBBP EP300
9 RNA polymerase II activating transcription factor binding GO:0001102 9.16 CREBBP EP300
10 acetyltransferase activity GO:0016407 8.96 CREBBP EP300
11 peptide N-acetyltransferase activity GO:0034212 8.62 CREBBP EP300

Sources for Rubinstein-Taybi Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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