MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Dysostoses (D004413)
Parent Node: Intellectual Disability (D008607)
..Starting node ..Rubinstein-Taybi Syndrome (D012415)
Child Nodes:
........Chromosome 16p13.3 Deletion Syndrome (C566433)
........Rubinstein Taybi like syndrome (C535877)
Sister Nodes:
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Acrodysostosis (C538179)
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Akesson syndrome (C535610)
..Al Gazali Aziz Salem syndrome (C535613)
..AL-RAQAD SYNDROME (OMIM:616459)
..ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..ALAZAMI SYNDROME (OMIM:615071)
..ALAZAMI-YUAN SYNDROME (OMIM:617126)
..Alopecia contractures dwarfism mental retardation (C537051)
..Alopecia epilepsy oligophrenia syndrome of Moynahan (C537052)
..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
..Alopecia, Neurologic Defects, and Endocrinopathy Syndrome (C567425)
..Alopecia-Mental Retardation Syndrome 1 (C565965)
..Alopecia-Mental Retardation Syndrome 2 (C563668)
..ALOPECIA-MENTAL RETARDATION SYNDROME 3 (OMIM:613930)
..Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type (C563050)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation (C565958)
..Amyotrophic Dystonic Paraplegia (C566292)
..Anemia, Congenital Hypoplastic, with Multiple Congenital Anomalies-Mental Retardation Syndrome (C565796)
..Aniridia cerebellar ataxia mental deficiency (C536370)
..Ansell Bywaters Elderking syndrome (C537773)
..Aortic arch anomaly with peculiar facies and mental retardation (C537785)
..Aphalangia, Partial, with Syndactyly and Duplication of Metatarsal IV (C563942)
..Arachnodactyly ataxia cataract aminoaciduria mental retardation (C537424)
..Arginine:Glycine Amidinotransferase Deficiency (C567192) L: 00444;
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..AU-KLINE SYNDROME (OMIM:616580)
..Aughton syndrome (C538269)
..Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation (C565923)
..Baraitser Rodeck Garner syndrome (C537906)
..BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Behr syndrome (C537669)
..Bellini Chiumello Rimoldi syndrome (C535652)
..Biemond syndrome II (C565902)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Blepharophimosis syndrome Ohdo type (C536232)
..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
..Bohring syndrome (C537419)
..BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME (OMIM:615722)
..Boudhina Yedes Khiari syndrome (C537939)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And (C564519)
..BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY (OMIM:614923)
..Brunner Syndrome (C563156)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAHMR syndrome (C537959)
..Camera Marugo Cohen syndrome (C537964)
..Cantalamessa Baldini Ambrosi syndrome (C537981)
..Cantu Sanchez-Corona Fragoso syndrome (C535571)
..Cartwright Nelson Fryns syndrome (C535917)
..Cataract, Congenital, with Mental Impairment and Dentate Gyrus Atrophy (C564353)
..Cataracts, ataxia, short stature, and mental retardation (C535345)
..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..Cephalin Lipidosis (C565872)
..Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 (C567656)
..Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 (C567690)
..CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
..CEREBELLOFACIODENTAL SYNDROME (OMIM:616202)
..Cerebral Cavernous Malformations 2 (C566394)
..Cerebral Cavernous Malformations 3 (C566393)
..Cerebrocostomandibular Syndrome (C562538)
..Cerebrofaciothoracic Dysplasia (C565862)
..Cerebrooculofacioskeletal Syndrome 2 (C565185)
..Cerebrooculofacioskeletal Syndrome 4 (C565184)
..Cerebrooculonasal Syndrome (C565313)
..Choroid plexus calcification with mental retardation (C535357)
..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Chromosome 17q21.31 Deletion Syndrome (C566476)
..Chromosome 18 Pericentric Inversion (C563734)
..Chromosome 1q21.1 Duplication Syndrome (C567290)
..Chromosome 1q43-Q44 Deletion Syndrome (C567346)
..Chromosome 2q31.2 Deletion Syndrome (C567344)
..Chromosome 2q32-Q33 Deletion Syndrome (C567350)
..Chromosome 3q29 Deletion Syndrome (C567184)
..CHROMOSOME 7q11.23 DELETION SYNDROME, DISTAL, 1.2-MB (OMIM:613729)
..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Chudley-Rozdilsky syndrome (C535458)
..Cleft Palate, Isolated, And Mental Retardation (C566991)
..Coffin syndrome 1 (C536435)
..Coffin-Siris syndrome (C536436)
..Cohen syndrome (C536438)
..Coloboma, cleft lip-palate and mental retardation syndrome (C535971)
..COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
..Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617360)
..Convulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..Craniofaciofrontodigital Syndrome (C567298)
..Craniosynostosis Mental Retardation Clefting Syndrome (C565663)
..Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
..Cree Mental Retardation Syndrome (C564654)
..Cri-du-Chat Syndrome (D003410) 6
..Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Curatolo Cilio Pessagno syndrome (C536701)
..Cutis Verticis Gyrata and Mental Deficiency (C565661)
..Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality (C565658)
..Davis Lafer syndrome (C535989)
..De Barsy syndrome (C535990)
..De Lange Syndrome (D003635) 1
..De Sanctis-Cacchione syndrome (C535992)
..Deafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Devriendt syndrome (C535947)
..Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification (C565632)
..Dicarboxylicaminoaciduria (C536171)
..Digitorenocerebral Syndrome (C563052)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Down Syndrome (D004314) 6
..Dubowitz syndrome (C535718)
..Duker Weiss Siber syndrome (C535719)
..Duplication 15q11-q13 Syndrome (C557830)
..Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone (C565615)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dysequilibrium syndrome (C535731)
..Dysmyelination With Jaundice (C565610)
..Ectodermal dysplasia mental retardation syndactyly (C538018)
..Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum (C565605)
..Elliott Ludman Teebi syndrome (C536204)
..Emanuel syndrome (C535733)
..Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..Epilepsy telangiectasia (C535497)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION (OMIM:245570)
..EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
..Epilepsy, Photogenic, with Spastic Diplegia and Mental Retardation (C565587)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..Faciocardiomelic Syndrome (C567176)
..Fallot complex with severe mental and growth retardation (C536608)
..Feingold Trainer syndrome (C536179)
..Fg Syndrome 5 (C564480)
..Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..Filippi syndrome (C538152)
..Fine-Lubinsky syndrome (C537933)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Fountain syndrome (C537270)
..Fryns-Aftimos Syndrome (C565258)
..Garret Tripp syndrome (C535646)
..Genitopatellar Syndrome (C565255)
..Goniodysgenesis-Mental Retardation-Short Stature Syndrome (C564214)
..Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia (C565755)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Growth mental deficiency syndrome of Myhre (C537620)
..GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
..Gurrieri Sammito Bellussi syndrome (C537625)
..Hair defect with photosensitivity and mental retardation (C537628)
..Hall Riggs mental retardation syndrome (C535623)
..HAREL-YOON SYNDROME (OMIM:617183)
..Harrod Doman Keele syndrome (C535635)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
..Hittner Hirsch Kreh syndrome (C538323)
..Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate (C564484)
..Hooft disease (C535329)
..Hordnes Engebretsen Knudtson syndrome (C536067)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hunter-McAlpine syndrome (C536072)
..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..Hydroxylysinuria (C565502)
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria (C565499)
..Hyperphosphatasia with Mental Retardation (C565495) 2
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies (C564406)
..HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Hypotonia-Cystinuria Syndrome (C564710) L: 00416;
..Ichthyosis and male hypogonadism (C537365)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation (C565462)
..Jagell Holmgren Hofer syndrome (C537364)
..Johanson Blizzard syndrome (C535880)
..Joubert Syndrome 7 (C566916)
..Joubert Syndrome 9 (C567364)
..Kahrizi Syndrome (C567196)
..Kaler Garrity Stern syndrome (C537706)
..Kapur Toriello syndrome (C537008)
..Karandikar Maria Kamble syndrome (C537009)
..Katsantoni Papadakou Lagoyanni syndrome (C537012)
..Kaufman oculocerebrofacial syndrome (C537013)
..KBG syndrome (C537015)
..KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..Kleefstra Syndrome (C563043)
..Koone Rizzo Elias syndrome (C537023)
..Kosztolanyi syndrome (C537024)
..Kozlowski Ouvrier syndrome (C537508)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..Kozlowski-Krajewska syndrome (C537615)
..Kuzniecky syndrome (C538091)
..LAMB-SHAFFER SYNDROME (OMIM:616803)
..Lambert syndrome (C538396)
..Lenz Majewski hyperostotic dwarfism (C537115)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Light Fixation Seizure Syndrome (C566367)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..Lissencephaly 3 (C566908)
..Lowry Maclean syndrome (C537037)
..Lowry Wood syndrome (C537038)
..Lubani Al Saleh Teebi syndrome (C537039)
..LUSCAN-LUMISH SYNDROME (OMIM:616831)
..Lynch Lee Murday syndrome (C537713)
..Macrogyria, pseudobulbar palsy and mental retardation (C537722)
..Macrosomia obesity macrocephaly ocular abnormalities (C535812)
..Male pseudohermaphroditism-mental retardation syndrome, Verloes type (C535693)
..Mandibulofacial Dysostosis with Mental Deficiency (C565420)
..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..Martsolf syndrome (C536028)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..McDonough syndrome (C538158)
..MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION (OMIM:613926)
..MEND SYNDROME (OMIM:300960)
..Mental and Growth Retardation with Amblyopia (C563591)
..MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS (OMIM:616789)
..Mental Retardation associated with Psoriasis (C564107)
..Mental retardation Mietens Weber type (C537444)
..Mental retardation Smith Fineman Myers type (C537445)
..Mental retardation spasticity ectrodactyly (C537446)
..Mental retardation syndrome, Belgian type (C537447)
..MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES (OMIM:613670)
..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
..Mental Retardation with Spastic Paraplegia (C564099)
..Mental retardation Wolff type (C537448)
..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..Mental Retardation, Autosomal Dominant 1 (C566947)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (OMIM:614256)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (OMIM:614257)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 (OMIM:615074)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 (OMIM:615075)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 2 (OMIM:614113)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 (OMIM:615502)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 (OMIM:612337)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 (OMIM:615828)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 (OMIM:615866)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
..Mental Retardation, Autosomal Dominant 3 (C567241)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 (OMIM:616083)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
..Mental Retardation, Autosomal Dominant 4 (C567240)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 (OMIM:616944)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 (OMIM:617061)
..Mental Retardation, Autosomal Dominant 5 (C567234)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (OMIM:614255)
..Mental Retardation, Autosomal Recessive 1 (C565406)
..Mental Retardation, Autosomal Recessive 10 (C567013)
..Mental Retardation, Autosomal Recessive 11 (C567012)
..Mental Retardation, Autosomal Recessive 12 (C567019)
..Mental Retardation, Autosomal Recessive 13 (C567714)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 (OMIM:614020)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 16 (OMIM:614208)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 (OMIM:614249)
..Mental Retardation, Autosomal Recessive 2 (C564404)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
..Mental Retardation, Autosomal Recessive 3 (C563929)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY (OMIM:614499)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 (OMIM:615286)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 (OMIM:615493)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 (OMIM:615516)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
..Mental Retardation, Autosomal Recessive 4 (C567008)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 (OMIM:616281)
..Mental Retardation, Autosomal Recessive 5 (C567018)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 (OMIM:616739)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 (OMIM:616917)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 (OMIM:617051)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 (OMIM:617125)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 (OMIM:617323)
..Mental Retardation, Autosomal Recessive 6 (C567017)
..MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 (OMIM:617432)
..Mental Retardation, Autosomal Recessive 7 (C567016)
..Mental Retardation, Autosomal Recessive 8 (C567015)
..Mental Retardation, Autosomal Recessive 9 (C567014)
..Mental Retardation, Buenos Aires Type (C563095)
..Mental Retardation, Fra12a Type (C566980)
..Mental Retardation, Joint Hypermobility, And Skin Laxity, With Or Without Metabolic Abnormalities (C567209)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Mental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
..Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mental Retardation, X-Linked (D038901) 134 C:4
..Mental Retardation, X-Linked, Syndromic 12 (C564106)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Mental Retardation, X-Linked, Znf711-Related (C567583)
..Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
..Methionine Malabsorption Syndrome (C562682)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microphthalmia and mental deficiency (C537462)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mohr-Tranebjaerg syndrome (C535808) L: 00113;
..Mollica Pavone Antener syndrome (C535809)
..MOMES Syndrome (C564660)
..Morillo-Cucci Passarge syndrome (C536983)
..MORM syndrome (C536984)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..Muscular Dystrophy, Congenital, Type 1D (C563844)
..MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY (OMIM:617404)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 (OMIM:615351)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..Myotonia with Skeletal Abnormalities and Mental Retardation (C564967)
..N syndrome (C536108)
..Nakamura Osame syndrome (C538335)
..Neuhauser syndrome (C536143)
..NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT (OMIM:614254)
..Neurofaciodigitorenal syndrome (C537388)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..NF1 Microdeletion Syndrome (C563524)
..NF1 Microduplication Syndrome (C567173)
..Nicolaides Baraitser syndrome (C536116)
..Oculodigitoesophagoduodenal syndrome (C537734)
..OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..Oliver Syndrome (C564931)
..Oliver-McFarlane syndrome (C536554)
..Onychotrichodysplasia and neutropenia (C537752)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Opitz trigonocephaly syndrome (C537418)
..OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..Osteolysis syndrome recessive (C536052)
..PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..Palant cleft palate syndrome (C538102)
..Pallister W syndrome (C538106)
..Parastremmatic dwarfism (C537172)
..Parkinsonism, early onset with mental retardation (C537179)
..Pashayan syndrome (C536303)
..Patella hypoplasia mental retardation (C536308)
..Pavone Fiumara Rizzo syndrome (C536313)
..Perisylvian syndrome (C536658)
..Perniola Krajewska Carnevale syndrome (C536660)
..Pfeiffer Kapferer syndrome (C537887)
..Pfeiffer Mayer syndrome (C537888)
..Pfeiffer Tietze Welte syndrome (C537891)
..PHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..Pilotto syndrome (C537400)
..Pitt-Hopkins syndrome (C537403)
..Piussan Lenaerts Mathieu syndrome (C537511)
..Prader-Willi Syndrome (D011218) 2
..Primrose syndrome (C536420)
..Prolonged Bleeding Time, Brachydactyly, and Mental Retardation (C564207)
..Proud Syndrome (C563110)
..Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..Pseudoaminopterin syndrome (C535823)
..Pseudouridinuria and Mental Defect (C564864)
..Pterygium colli mental retardation digital anomalies (C535831)
..Qazi Markouizos syndrome (C536259)
..Radioulnar synostosis retinal pigment abnormalities (C536270)
..Ramon Syndrome (C535285)
..Ramos Arroyo Clark syndrome (C535286)
..Reardon Wilson Cavanagh syndrome (C535295)
..Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation (C567038)
..Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..Richards-Rundle syndrome (C535674)
..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
..Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant (C563392)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Rubinstein-Taybi Syndrome (D012415) 2
..Rud Syndrome (C535878)
..Ruzicka Goerz Anton syndrome (C537192)
..Sammartino De Crecchio Syndrome (C537229)
..Sao Paulo MCA-MR Syndrome (C563119)
..Scaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
..SCARF syndrome (C536625)
..Schinzel-Giedion syndrome (C536632)
..Schofer Beetz Bohl syndrome (C535949)
..Scholte syndrome (C536638)
..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
..Sclerosing bone dysplasia mental retardation (C537523)
..Scott Bryant Graham syndrome (C537528)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Seemanova Lesny syndrome (C537536)
..SeSAME syndrome (C557674)
..Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting (C566989)
..Simpson-Golabi-Behmel syndrome (C537340)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Skeletal Defects, Genital Hypoplasia, And Mental Retardation (C567306)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Spastic Ataxia (C564815)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic Paraplegia, Ataxia, And Mental Retardation (C564378)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paresis, Glaucoma, and Mental Retardation (C564809)
..Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..Spinal Muscular Atrophy with Mental Retardation (C564807)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Stevenson-Carey Syndrome (C567446)
..Sucrosuria, Hiatus Hernia and Mental Retardation (C564792)
..SUPERNUMERARY DER(22)t(8 (OMIM:613700)
..TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
..Tamari Goodman syndrome (C536896)
..TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
..Temple-Baraitser Syndrome (C567516)
..Temtamy preaxial brachydactyly syndrome (C536958)
..TENORIO SYNDROME (OMIM:616260)
..Tetrasomy X (C536502)
..Tonoki syndrome (C536967)
..Trichodental syndrome (C536551)
..TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..Trisomy 13 Syndrome (D000073839)
..Tryptophanuria With Dwarfism (C562658)
..Tsukahara Syndrome (C566376)
..Ulna hypoplasia with mental retardation (C536934)
..Ulnar Hypoplasia with Mental Retardation (C564757)
..Upton Young syndrome (C536473)
..Van Bogaert-Hozay syndrome (C536526)
..Van Den Bosch Syndrome (C563129)
..Van Maldergem Wetzburger Verloes syndrome (C536530)
..Vasquez Hurst Sotos syndrome (C536533)
..Verloes Gillerot Fryns syndrome (C536539)
..Viljoen Kallis Voges syndrome (C536349)
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Volcke Soekarman syndrome (C537718)
..WAGR Syndrome (D017624) 2
..Walker Dyson syndrome (C536568)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..Wiedemann Grosse Dibbern syndrome (C536704)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..WIEDEMANN-STEINER SYNDROME (OMIM:605130)
..Williams Syndrome (D018980) 1
..Winship Viljoen Leary syndrome (C536711)
..Woodhouse Sakati syndrome (C536742)
..Worster Drought syndrome (C536747)
..XIA-GIBBS SYNDROME (OMIM:615829)
..Yorifuji Okuno syndrome (C536714)
..Young Hughes syndrome (C536715)
..Young Simpson syndrome (C536717)
..Zazam Sheriff Phillips syndrome (C536723)
..Zechi-Ceide Syndrome (C567865)
..Zerres Rietschel Majewski syndrome (C536724)
..Zlotogora-Ogur syndrome (C536726)
..ZTTK SYNDROME (OMIM:617140)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10912

Name:

Rubinstein-Taybi Syndrome

Definition:

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

Alternative IDs:

DO:DOID:1933|OMIM:180849|OMIM:613684

ParentIDs:

MESH:D000015|MESH:D004413|MESH:D008607|MESH:D019465|MESH:D025063

TreeNumbers:

C05.116.099.370.797 |C05.660.207.850 |C10.597.606.360.700 |C16.131.077.804 |C16.131.260.790 |C16.131.621.207.850 |C16.320.180.790

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: D012415
MeSH: D012415
OMIM: 180849;
MSeqDR :
Genes: CREBBP; EP300;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000481	Abnormal cornea morphology
3	HP:0006483	Abnormal number of teeth
4	HP:0000539	Abnormality of refraction
5	HP:0003319	Abnormality of the cervical spine
6	HP:0000077	Abnormality of the kidney NAMDC: Abnormality of the kidney
7	HP:0000377	Abnormality of the pinna
8	HP:0002251	Aganglionic megacolon
9	HP:0001274	Agenesis of corpus callosum
10	HP:0000756	Agoraphobia
11	HP:0011675	Arrhythmia NAMDC: Cardiac conduction block
12	HP:0001631	Atrial septal defect
13	HP:0000717	Autism NAMDC: Autism
14	HP:0005743	Avascular necrosis of the capital femoral epiphysis
15	HP:0000136	Bifid uterus
16	HP:0001335	Bimanual synkinesia
17	HP:0010055	Broad hallux
18	HP:0011304	Broad thumb
19	HP:0000957	Cafe-au-lait spot
20	HP:0005306	Capillary hemangioma
21	HP:0000518	Cataract NAMDC: Cataracts
22	HP:0001135	Chorioretinal dystrophy
23	HP:0004209	Clinodactyly of the 5th finger
24	HP:0000589	Coloboma
25	HP:0002019	Constipation
26	HP:0000444	Convex nasal ridge
27	HP:0000028	Cryptorchidism
28	HP:0000490	Deeply set eye
29	HP:0000270	Delayed cranial suture closure
30	HP:0002750	Delayed skeletal maturation
31	HP:0000750	Delayed speech and language development NAMDC: Delayed language
32	HP:0000678	Dental crowding
33	HP:0000689	Dental malocclusion
34	HP:0004411	Deviated nasal septum
35	HP:0003083	Dislocated radial head
36	HP:0000494	Downslanted palpebral fissures
37	HP:0009921	Duane anomaly
38	HP:0010066	Duplication of phalanx of hallux
39	HP:0002353	EEG abnormality
40	HP:0000286	Epicanthus
41	HP:0000273	Facial grimacing
42	HP:0001508	Failure to thrive	Infantile onset
43	HP:0008872	Feeding difficulties in infancy
44	HP:0002869	Flared iliac wings
45	HP:0001371	Flexion contracture
46	HP:0002007	Frontal bossing
47	HP:0002236	Frontal upsweep of hair
48	HP:0001290	Generalized hypotonia
49	HP:0000501	Glaucoma
50	HP:0000365	Hearing impairment
51	HP:0001425	Heterogeneous
52	HP:0001042	High axial triradius
53	HP:0000218	High palate
54	HP:0002553	Highly arched eyebrow
55	HP:0001007	Hirsutism
56	HP:0000752	Hyperactivity
57	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
58	HP:0006297	Hypoplasia of dental enamel
59	HP:0000327	Hypoplasia of the maxilla
60	HP:0002866	Hypoplastic iliac wing
61	HP:0000047	Hypospadias
62	HP:0100710	Impulsivity
63	HP:0001249	Intellectual disability
64	HP:0001382	Joint hypermobility
65	HP:0001388	Joint laxity
66	HP:0010562	Keloids
67	HP:0002700	Large foramen magnum
68	HP:0001601	Laryngomalacia
69	HP:0000527	Long eyelashes
70	HP:0000294	Low anterior hairline
71	HP:0009765	Low hanging columella
72	HP:0002162	Low posterior hairline
73	HP:0000369	Low-set ears
74	HP:0000252	Microcephaly
75	HP:0000347	Micrognathia
76	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
77	HP:0000160	Narrow mouth
78	HP:0000189	Narrow palate
79	HP:0000579	Nasolacrimal duct obstruction
80	HP:0002870	Obstructive sleep apnea
81	HP:0009715	Papillary cystadenoma of the epididymis
82	HP:0002697	Parietal foramina
83	HP:0002999	Patellar dislocation
84	HP:0001643	Patent ductus arteriosus
85	HP:0000767	Pectus excavatum
86	HP:0001763	Pes planus
87	HP:0002183	Phonophobia
88	HP:0008107	Plantar crease between first and second toes
89	HP:0010442	Polydactyly
90	HP:0001561	Polyhydramnios
91	HP:0002370	Poor coordination
92	HP:0008897	Postnatal growth retardation
93	HP:0010314	Premature thelarche
94	HP:0001212	Prominent fingertip pads
95	HP:0000520	Proptosis
96	HP:0000508	Ptosis NAMDC: Ptosis
97	HP:0005895	Radial deviation of thumb terminal phalanx
98	HP:0002788	Recurrent upper respiratory tract infections	Infantile onset
99	HP:0002098	Respiratory distress	Neonatal onset
100	HP:0000278	Retrognathia
101	HP:0002650	Scoliosis
102	HP:0001250	Seizures NAMDC: Seizures
103	HP:0000742	Self-mutilation
104	HP:0000049	Shawl scrotum
105	HP:0000736	Short attention span
106	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
107	HP:0000954	Single transverse palmar crease
108	HP:0003298	Spina bifida occulta
109	HP:0003745	Sporadic
110	HP:0000733	Stereotypy
111	HP:0001159	Syndactyly
112	HP:0011087	Talon cusp
113	HP:0002144	Tethered cord
114	HP:0000574	Thick eyebrow
115	HP:0001956	Truncal obesity	Juvenile onset
116	HP:0002317	Unsteady gait
117	HP:0003828	Variable expressivity
118	HP:0010775	Vascular ring
119	HP:0001629	Ventricular septal defect
120	HP:0000260	Wide anterior fontanel
121	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NG_009873.1:g.(?_5000)_(160068_?)del	1387	CREBBP	Pathogenic	-1	RCV000417106;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3775054	3930122		-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)	1387	CREBBP	Likely pathogenic	rs1555470631	RCV000625603;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3777472	3777787	16:g.3777473_3777571del	ClinGen:CA658798522	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)	1387	CREBBP	Uncertain significance	rs895608889	RCV000723280;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3777737	3777737	NC_000016.9:g.3777737C>A	-
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=)	1387	CREBBP	Likely benign	rs745992971	RCV000876099\|RCV001593105\|RCV002501345;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3777812	3777812	16:g.3777812C>T	-
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)	1387	CREBBP	Benign/Likely benign	rs55916120	RCV000081072\|RCV000544854\|RCV002311618\|RCV002498424;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3777836	3777836	16:g.3777836T>C	ClinGen:CA148150	CN169374 not specified;
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)	1387	CREBBP	Uncertain significance	rs863223334	RCV000201310\|RCV002485054\|RCV002515218;	N	MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3777838	3777838	16:g.3777838C>T	ClinGen:CA279194	C2931876 142623 Hirschsprung disease 1;
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	1387	CREBBP	Uncertain significance	rs759047530	RCV001332437\|RCV002476549;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3777864	3777864	3777864	-
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs756011865	RCV000714678\|RCV002369985;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123	16	3777886	3777886	NC_000016.9:g.3777886C>T	-
NM_004380.3(CREBBP):c.7125C>T (p.His2375=)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs746116315	RCV000513559\|RCV002490864\|RCV002524961;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3777923	3777923	16:g.3777923G>A	ClinGen:CA7868947	CN517202 not provided;
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)	1387	CREBBP	Likely benign	-1	RCV002156397\|RCV002494496;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3777932	3777932	3777932	-
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)	1387	CREBBP	Benign/Likely benign	rs148904096	RCV000593890\|RCV000872416\|RCV002317337\|RCV002476298;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3778199	3778199	16:g.3778199G>A	ClinGen:CA7868984	CN169374 not specified;
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)	1387	CREBBP	Uncertain significance	-1	RCV001420558\|RCV002554090;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3778209	3778209	3778209	-
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=)	1387	CREBBP	Likely benign	rs372866305	RCV000930031\|RCV002502840;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3778214	3778214	16:g.3778214C>T	-
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=)	1387	CREBBP	Likely benign	rs748072121	RCV000915483\|RCV002495518;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3778253	3778253	16:g.3778253C>T	-
NM_004380.3(CREBBP):c.6684C>T (p.His2228=)	1387	CREBBP	Benign/Likely benign	rs138613594	RCV001655580\|RCV002313581\|RCV002477659\|RCV002534559;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3778364	3778364	NC_000016.9:g.3778364G>A	-
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs750845399	RCV000341039\|RCV002487207\|RCV002521902;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3778370	3778370	16:g.3778370C>T	ClinGen:CA7869029	CN169374 not specified;
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del)	1387	CREBBP	Benign/Likely benign	rs727503890	RCV000153114\|RCV002478445;	N	MedGen:CN169374\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778419	3778427	16:g.3778419_3778427del	ClinGen:CA179938	CN169374 not specified;
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)	1387	CREBBP	Benign/Likely benign	rs142545779	RCV000081069\|RCV000871284\|RCV001538690\|RCV002313777\|RCV002490710;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778424	3778424	16:g.3778424T>C	ClinGen:CA148144	CN169374 not specified;
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs779647460	RCV000193510\|RCV002314797\|RCV002500589\|RCV002517926;	N	MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3778427	3778428	NC_000016.9:g.3778430CTG[4]	ClinGen:CA202520	CN169374 not specified;
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=)	1387	CREBBP	Benign/Likely benign	rs62636220	RCV000081067\|RCV000871688\|RCV001650917\|RCV002311615\|RCV002477235;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778439	3778439	16:g.3778439T>C	ClinGen:CA148140	CN169374 not specified;
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del)	1387	CREBBP	Uncertain significance	-1	RCV001763568\|RCV002489768\|RCV002544061;	N	MedGen:CN517202\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3778440	3778445	3778439	-
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=)	1387	CREBBP	Benign/Likely benign	rs73491896	RCV000081066\|RCV000872058\|RCV001521307\|RCV002313776\|RCV002477234;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778484	3778484	16:g.3778484C>T	ClinGen:CA148138	CN169374 not specified;
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser)	1387	CREBBP	Uncertain significance	-1	RCV002275595;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778489	3778489	3778489	-
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile)	1387	CREBBP	Uncertain significance	-1	RCV002273346;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778491	3778491	3778491	-
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly)	1387	CREBBP	Uncertain significance	rs398124149	RCV000081065\|RCV002490709;	N	MedGen:CN517202\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778498	3778498	16:g.3778498T>C	ClinGen:CA222705	CN169374 not specified;
NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser)	1387	CREBBP	Uncertain significance	rs773348705	RCV001270736;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778594	3778594	16:g.3778594G>A	-
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=)	1387	CREBBP	Likely benign	rs371497730	RCV002060931\|RCV002318816\|RCV002493281;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3778598	3778598	NC_000016.9:g.3778598C>T	-
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)	1387	CREBBP	Uncertain significance	rs587783512	RCV000145778\|RCV002492531;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3778599	3778599	NC_000016.9:g.3778599G>A	ClinGen:CA271440	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)	1387	CREBBP	Pathogenic	rs1596783639	RCV000856797;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778612	3778612	16:g.3778612G>A	-
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)	1387	CREBBP	Pathogenic	rs797045500	RCV000192313;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778630	3778631	NC_000016.9:g.3778631_3778653dup	ClinGen:CA276936	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)	1387	CREBBP	Pathogenic	rs797045500	RCV000856888;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778631	3778653	16:g.3778631_3778653del	-
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	1387	CREBBP	Likely pathogenic	-1	RCV001563617;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778660	3778660	3778660	-
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)	1387	CREBBP	Likely pathogenic	rs199821421	RCV000497205\|RCV000623929;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123	16	3778724	3778724	16:g.3778724G>T	ClinGen:CA394553636	C0950123 Inborn genetic diseases;
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)	1387	CREBBP	Pathogenic	-1	RCV001754541;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778724	3778724	3778724	-
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)	1387	CREBBP	Likely pathogenic	rs1555471077	RCV000503664;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778773	3778773	16:g.3778773G>C	ClinGen:CA394553744	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)	1387	CREBBP	Likely pathogenic	rs2051825168	RCV001265550;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778798	3778798	16:g.3778798G>A	-
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)	1387	CREBBP	Pathogenic/Likely pathogenic	rs886041518	RCV000261393\|RCV001256995\|RCV002250613;	N	MedGen:CN517202\|MedGen:CN283358, Orphanet:183757\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778807	3778807	16:g.3778807G>A	ClinGen:CA10603392	CN517202 not provided;
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs)	1387	CREBBP	Pathogenic	rs1596784310	RCV000856887;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778818	3778827	16:g.3778818_3778827del	-
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=)	1387	CREBBP	Benign/Likely benign	rs374150949	RCV000893896\|RCV001709683\|RCV002312362\|RCV002507253;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3778853	3778853	NC_000016.9:g.3778853G>A	-
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)	1387	CREBBP	Likely pathogenic	rs587783511	RCV000145777;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778877	3778918	NC_000016.9:g.3778877_3778918del	ClinGen:CA271438	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)	1387	CREBBP	Likely pathogenic	rs1596784713	RCV000856886\|RCV001420346;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|	16	3778910	3778911	16:g.3778910_3778911insGCCTGGGCCTGCATGGATATCACAG	-
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)	1387	CREBBP	Benign/Likely benign	rs371656213	RCV000871930\|RCV002501316\|RCV002539119;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3778910	3778910	16:g.3778910C>T	-
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)	1387	CREBBP	Pathogenic	rs1596784713	RCV000856885;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778911	3778935	16:g.3778911_3778935del	-
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)	1387	CREBBP	Pathogenic	rs797045499	RCV000194469;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778932	3778941	NC_000016.9:g.3778932_3778941delACAGGCCTGG	ClinGen:CA277328	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)	1387	CREBBP	Pathogenic	rs2051830234	RCV001252210;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778944	3778944	16:g.3778944_3778944del	-
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)	1387	CREBBP	Pathogenic	rs587783510	RCV000145775;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778960	3778960	NC_000016.9:g.3778960G>A	ClinGen:CA271436	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)	1387	CREBBP	Uncertain significance	rs745551441	RCV002231255\|RCV002316527\|RCV002497075;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3778977	3778977	16:g.3778977G>A	ClinGen:CA7869187	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)	1387	CREBBP	Uncertain significance	rs751739281	RCV001195818;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779020	3779020	16:g.3779020C>T	-
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser)	1387	CREBBP	Uncertain significance	-1	RCV001682623;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779041	3779041	3779041	-
NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)	1387	CREBBP	Pathogenic	-1	RCV002471870;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779042	3779043	NC_000016.9:g.3779042CA[1]	-
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=)	1387	CREBBP	Benign	rs181646656	RCV000081063\|RCV000530305\|RCV001610373\|RCV002311613\|RCV002490708;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779060	3779060	16:g.3779060G>A	ClinGen:CA148134	CN169374 not specified;
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs)	1387	CREBBP	Pathogenic	rs1596785514	RCV000856884;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779062	3779062	16:g.3779062_3779062del	-
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del)	1387	CREBBP	Uncertain significance	rs777318563	RCV000177558\|RCV002500498\|RCV002516740;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3779071	3779079	16:g.3779071_3779079del	ClinGen:CA243765	CN169374 not specified;
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs)	1387	CREBBP	Pathogenic	rs797045498	RCV000193252;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779111	3779112	NC_000016.9:g.3779111_3779112insA	ClinGen:CA277105	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)	1387	CREBBP	Pathogenic	rs1567262537	RCV000754905;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779143	3779143	NC_000016.9:g.3779143G>A	-
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)	1387	CREBBP	Benign/Likely benign	rs370565083	RCV000945520\|RCV002066226\|RCV002479086\|RCV002354839;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MeSH:D030342,MedGen:C0950123	16	3779162	3779162	16:g.3779162G>A	-
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)	1387	CREBBP	Pathogenic	rs587783508	RCV000145773;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779179	3779179	NC_000016.9:g.3779179delC	ClinGen:CA271433	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup)	1387	CREBBP	Uncertain significance	-1	RCV001839075;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779201	3779202	3779201	-
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)	1387	CREBBP	Pathogenic	rs1596786219	RCV000856926;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779202	3779203	16:g.3779202_3779203insC	-
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)	1387	CREBBP	Pathogenic	rs587783506	RCV000145771;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779204	3779214	NC_000016.9:g.3779204_3779214delCGGGGGTGGGG	ClinGen:CA271431	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr)	1387	CREBBP	Uncertain significance	rs1231016252	RCV001331221;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779206	3779206	3779206	-
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)	1387	CREBBP	Pathogenic/Likely pathogenic	rs587783507	RCV000195029\|RCV001731511;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|	16	3779210	3779211	16:g.3779210_3779211insG	ClinGen:CA277424	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)	1387	CREBBP	Pathogenic/Likely pathogenic	rs587783507	RCV000145772\|RCV000681911;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3779211	3779211	NC_000016.9:g.3779217del	ClinGen:CA271432
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs765600316	RCV002233339\|RCV002352188\|RCV002485719;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3779211	3779211	NC_000016.9:g.3779211G>T	-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)	1387	CREBBP	Conflicting interpretations of pathogenicity	-1	RCV001578063\|RCV002568505\|RCV002495924\|RCV002359190;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MeSH:D030342,MedGen:C0950123	16	3779212	3779212	3779212	-
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)	1387	CREBBP	Pathogenic	rs587783505	RCV000145769;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779227	3779227	NC_000016.9:g.3779227G>A	ClinGen:CA271429	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile)	1387	CREBBP	Uncertain significance	-1	RCV002272833;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779244	3779244	3779244	-
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs587783504	RCV000145768\|RCV000177560\|RCV001087896\|RCV002221200\|RCV002354332;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:	16	3779248	3779248	16:g.3779248A>G	ClinGen:CA243769	CN169374 not specified;
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	1387	CREBBP	Conflicting interpretations of pathogenicity	-1	RCV001839234\|RCV002478074\|RCV002542829;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,O	16	3779254	3779254	3779254	-
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)	1387	CREBBP	Pathogenic	rs1596786512	RCV000856925;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779257	3779258	16:g.3779257_3779258insG	-
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)	1387	CREBBP	Benign/Likely benign	rs778915687	RCV000989507\|RCV002549727;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3779272	3779272	16:g.3779272G>C	-
NM_004380.3(CREBBP):c.5763C>G (p.Phe1921Leu)	1387	CREBBP	Likely benign	rs2051845365	RCV001262784;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779285	3779285	16:g.3779285G>C	-
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)	1387	CREBBP	Uncertain significance	rs559294915	RCV000402703\|RCV002487197;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3779301	3779301	16:g.3779301A>G	ClinGen:CA7869249	CN169374 not specified;
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs760771706	RCV000714851\|RCV002477653\|RCV002532980;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,O	16	3779308	3779308	NC_000016.9:g.3779308C>T	-
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)	1387	CREBBP	Pathogenic	rs1596786752	RCV000856924;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779326	3779326	16:g.3779326_3779326del	-
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs199990883	RCV000081061\|RCV000145767\|RCV000224624\|RCV001085724\|RCV002311611;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123	16	3779329	3779329	16:g.3779329C>T	ClinGen:CA248675	CN517202 not provided;
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)	1387	CREBBP	Pathogenic	-1	RCV002226990;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779338	3779338	3779338	-
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)	1387	CREBBP	Pathogenic	-1	RCV002470191;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779365	3779365	NC_000016.9:g.3779365G>A	-
NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)	1387	CREBBP	Pathogenic	rs1567263114	RCV000710038\|RCV000823101;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3779406	3779407	NC_000016.9:g.3779406CT[1]	-
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs797045037	RCV000191076\|RCV000523539\|RCV000757968\|RCV001260745\|RCV002517032;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Huma	16	3779434	3779434	16:g.3779434T>C	ClinGen:CA276136,OMIM:600140.0012	CN517202 not provided;
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro)	1387	CREBBP	Uncertain significance	rs2051850835	RCV001198109;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779437	3779437	16:g.3779437T>G	-
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)	1387	CREBBP	Pathogenic	-1	RCV002249839;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779473	3779493	3779472	-
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)	1387	CREBBP	Likely pathogenic	rs1596787459	RCV000824846;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779564	3779566	16:g.3779564_3779566del	-
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg)	1387	CREBBP	Uncertain significance	-1	RCV001799564;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3779586	3779586	3779586	-
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)	1387	CREBBP	Likely pathogenic	rs797045496	RCV000194204;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779636	3779636	NC_000016.9:g.3779636G>T	ClinGen:CA277274	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)	1387	CREBBP	Pathogenic/Likely pathogenic	rs988251457	RCV001249612\|RCV001847212;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3779691	3779691	16:g.3779691C>T	-
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)	1387	CREBBP	Benign/Likely benign	rs190121951	RCV000983912\|RCV001514646\|RCV002312487\|RCV002477654;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3779777	3779777	NC_000016.9:g.3779777G>A	-
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=)	1387	CREBBP	Likely benign	rs932933039	RCV002317412\|RCV002534963\|RCV002507261;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3779807	3779807	NC_000016.9:g.3779807C>A	-
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)	1387	CREBBP	Likely pathogenic	rs869312714	RCV000209852;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779811	3779811	16:g.3779811C>A	ClinGen:CA357158	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)	1387	CREBBP	Likely pathogenic	rs2051863859	RCV001089539;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3779862	3779862	16:g.3779862C>G	-
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)	1387	CREBBP	Pathogenic	-1	RCV002249840;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781196	3781196	3781196	-
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)	1387	CREBBP	Pathogenic/Likely pathogenic	rs2051906390	RCV001253321;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781207	3781207	16:g.3781207A>G	-
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)	1387	CREBBP	Benign/Likely benign	rs200287696	RCV000177470\|RCV000873308\|RCV001560281\|RCV002317036\|RCV002503684;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781250	3781250	16:g.3781250G>A	ClinGen:CA202486	CN169374 not specified;
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)	1387	CREBBP	Likely pathogenic	-1	RCV001377314\|RCV002504629;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781305	3781305	3781305	-
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)	1387	CREBBP	Likely pathogenic	rs587783503	RCV000145765;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781315	3781315	NC_000016.9:g.3781315A>G	ClinGen:CA271427	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)	1387	CREBBP	Pathogenic/Likely pathogenic	rs587783502	RCV000145764\|RCV001804855;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3781324	3781326	NC_000016.9:g.3781324_3781326delAGG	ClinGen:CA271425	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)	1387	CREBBP	Pathogenic	rs797045495	RCV000193359;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781338	3781338	NC_000016.9:g.3781338C>T	ClinGen:CA277127	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)	1387	CREBBP	Benign/Likely benign	rs756979739	RCV000872625\|RCV002478983\|RCV003103857;	N	MedGen:CN517202\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3781373	3781373	16:g.3781373G>A	-
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)	1387	CREBBP	Likely pathogenic	rs1596791996	RCV000856923\|RCV001784472;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3781374	3781374	16:g.3781374C>T	-
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)	1387	CREBBP	Likely pathogenic	-1	RCV001842251;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781374	3781374	3781374	-
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=)	1387	CREBBP	Likely benign	rs139365408	RCV000905610\|RCV002537587\|RCV002336890\|RCV002502693;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3781409	3781409	16:g.3781409G>A	-
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu)	1387	CREBBP	Uncertain significance	rs587783501	RCV000145763;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781471	3781471	NC_000016.9:g.3781471A>G	ClinGen:CA271423	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4890+6C>T	1387	CREBBP	Uncertain significance	rs1567265838	RCV002233397\|RCV002485741;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3781771	3781771	NC_000016.9:g.3781771G>A	-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4890+1G>A	1387	CREBBP	Pathogenic	rs1596793242	RCV000856922;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781776	3781776	16:g.3781776C>T	-
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)	1387	CREBBP	Benign/Likely benign	rs73491901	RCV000081055\|RCV000872059\|RCV001521308\|RCV002313774\|RCV002477233;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781845	3781845	16:g.3781845G>T	ClinGen:CA148126	CN169374 not specified;
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser)	1387	CREBBP	Uncertain significance	-1	RCV002244141;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781863	3781863	3781863	-
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)	1387	CREBBP	Pathogenic	rs587783500	RCV000145762;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3781875	3781875	NC_000016.9:g.3781875delT	ClinGen:CA271422	C0035934 180849 Rubinstein-Taybi syndrome;
NC_000016.9:g.(?_3786017)_(3786836_?)dup	1387	CREBBP	Likely pathogenic	-1	RCV000707788\|RCV001377251;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3786017	3786836		-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4728+2del	1387	CREBBP	Pathogenic	rs1596803811	RCV000856921;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786035	3786035	16:g.3786035_3786035del	-
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val)	1387	CREBBP	Uncertain significance	-1	RCV001822437\|RCV002506857;	N	MedGen:CN169374\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786056	3786056	3786056	-
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs)	1387	CREBBP	Pathogenic	rs587783499	RCV000145760;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786076	3786076	NC_000016.9:g.3786076delC	ClinGen:CA271421	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)	1387	CREBBP	Uncertain significance	-1	RCV002795928;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786099	3786099	NC_000016.9:g.3786099G>C	-
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)	1387	CREBBP	Pathogenic	rs1567269316	RCV000754903;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786105	3786105	NC_000016.9:g.3786105T>A	-
NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)	1387	CREBBP	Pathogenic	-1	RCV002282719;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786111	3786115	3786110	-
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup)	1387	CREBBP	Pathogenic	rs1596804073	RCV000856920;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786118	3786119	16:g.3786118_3786119insAAC	-
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs)	1387	CREBBP	Pathogenic	rs1555472938	RCV000538610;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786120	3786121	16:g.3786120_3786121del	ClinGen:CA658658388	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)	1387	CREBBP	Likely pathogenic	rs1596804126	RCV000856919;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786152	3786152	16:g.3786152G>A	-
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)	1387	CREBBP	Pathogenic	-1	RCV002790011;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786197	3786198	NC_000016.9:g.3786199_3786200del	-
NC_000016.9:g.(?_3786631)_(3790570_?)dup	1387	CREBBP	Likely pathogenic	-1	RCV000633006\|RCV001377250;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3786631	3790570		-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4560+14A>G	1387	CREBBP	Benign/Likely benign	rs200934101	RCV000145758\|RCV002498665\|RCV002514807;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3786637	3786637	NC_000016.9:g.3786637T>C	ClinGen:CA171795	CN169374 not specified;
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met)	1387	CREBBP	Uncertain significance	rs1596805575	RCV000856918;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786652	3786652	16:g.3786652T>A	-
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)	1387	CREBBP	Pathogenic	rs587783497	RCV000145757;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786703	3786703	NC_000016.9:g.3786703T>C	ClinGen:CA271419	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=)	1387	CREBBP	Benign/Likely benign	rs149560660	RCV000176746\|RCV000872757\|RCV001310315\|RCV002317025\|RCV002500490;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786717	3786717	16:g.3786717T>C	ClinGen:CA202087	CN169374 not specified;
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)	1387	CREBBP	Likely pathogenic	rs1596805792	RCV000856917;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786751	3786751	16:g.3786751T>C	-
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)	1387	CREBBP	Uncertain significance	rs1057519207	RCV000416059\|RCV000856916;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786752	3786752	16:g.3786752G>A	ClinGen:CA16043855	CN517202 not provided;
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs)	1387	CREBBP	Pathogenic	rs1596805807	RCV000856915;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786752	3786753	16:g.3786752_3786753insA	-
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)	1387	CREBBP	Likely pathogenic	rs587783496	RCV000145756;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786766	3786766	NC_000016.9:g.3786766T>C	ClinGen:CA271417	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)	1387	CREBBP	Pathogenic	rs587783495	RCV000145755;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786767	3786767	NC_000016.9:g.3786767A>C	ClinGen:CA271415	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)	1387	CREBBP	Pathogenic/Likely pathogenic	rs886041286	RCV000334678\|RCV000850544;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786772	3786772	NC_000016.9:g.3786772T>C	ClinGen:CA10603272	CN517202 not provided;
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)	1387	CREBBP	Likely pathogenic	rs1555473122	RCV000677660;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786773	3786775	NC_000016.9:g.3786775_3786777del	-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473_Cys1474=)	1387	CREBBP	Conflicting interpretations of pathogenicity	-1	RCV002266677\|RCV003096046;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3786792	3786792	3786792	-
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)	1387	CREBBP	Likely pathogenic	rs1596805927	RCV000856883;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786794	3786794	16:g.3786794C>T	-
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs)	1387	CREBBP	Pathogenic	-1	RCV000010038;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786806	3786807	3786805	OMIM:600140.0004
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)	1387	CREBBP	Pathogenic	rs147688139	RCV000145754;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3786813	3786813	NC_000016.9:g.3786813A>T	ClinGen:CA271413	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4394+3_4394+7del	1387	CREBBP	Uncertain significance	rs1596810185	RCV000856882;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788553	3788557	16:g.3788553_3788557del	-
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)	1387	CREBBP	Likely pathogenic	rs587783494	RCV000145753;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788578	3788578	NC_000016.9:g.3788578T>C	ClinGen:CA271411	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)	1387	CREBBP	Benign/Likely benign	rs144832179	RCV000176670\|RCV000871285\|RCV001651041\|RCV002503675\|RCV002326966;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123	16	3788604	3788604	16:g.3788604G>A	ClinGen:CA202056	CN169374 not specified;
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)	1387	CREBBP	Likely pathogenic	-1	RCV002226996;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788649	3788649	3788649	-
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)	1387	CREBBP	Likely pathogenic	rs1596810419	RCV000856881;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788651	3788651	16:g.3788651C>A	-
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)	1387	CREBBP	Likely pathogenic	rs1596810435	RCV000856880;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788657	3788657	16:g.3788657A>G	-
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)	1387	CREBBP	Pathogenic	rs1596810465	RCV000856879;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788664	3788664	16:g.3788664G>T	-
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)	1387	CREBBP	Likely pathogenic	rs778448390	RCV000856878;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788671	3788671	16:g.3788671C>G	-
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)	1387	CREBBP	Likely pathogenic	rs797045494	RCV000195137;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788673	3788673	NC_000016.9:g.3788673C>A	ClinGen:CA277444	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4281-11C>G	1387	CREBBP	Likely pathogenic	rs587783493	RCV000145752;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3788684	3788684	NC_000016.9:g.3788684G>C	ClinGen:CA271410	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly)	1387	CREBBP	Uncertain significance	rs794727401	RCV000176558\|RCV000856877;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789580	3789580	16:g.3789580T>C	ClinGen:CA242550	CN169374 not specified;
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)	1387	CREBBP	Likely pathogenic	rs145988918	RCV000856876;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789582	3789582	16:g.3789582G>C	-
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)	1387	CREBBP	Likely pathogenic	rs200616542	RCV001249613;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789597	3789597	16:g.3789597C>A	-
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=)	1387	CREBBP	Likely benign	rs61731412	RCV000921946\|RCV001868363\|RCV002316848\|RCV002507259;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3789608	3789608	NC_000016.9:g.3789608G>A	-
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)	1387	CREBBP	Pathogenic	-1	RCV002471646;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789608	3789608	NC_000016.9:g.3789608G>C	-
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)	1387	CREBBP	Pathogenic	rs1596812202	RCV000856875;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789616	3789616	16:g.3789616G>A	-
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)	1387	CREBBP	Likely pathogenic	rs587783492	RCV000145750;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789633	3789633	NC_000016.9:g.3789633A>G	ClinGen:CA271408	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)	1387	CREBBP	Pathogenic	rs1596812256	RCV000856783;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789653	3789653	16:g.3789653_3789653del	-
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)	1387	CREBBP	Likely pathogenic	rs1596812290	RCV000856874;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789684	3789684	16:g.3789684C>A	-
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)	1387	CREBBP	Pathogenic	rs1596812306	RCV000856873;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789685	3789685	16:g.3789685G>A	-
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)	1387	CREBBP	Likely pathogenic	rs149877180	RCV000856872;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789714	3789714	16:g.3789714G>A	-
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)	1387	CREBBP	Uncertain significance	-1	RCV001420576\|RCV002499902;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3789718	3789718	3789718	-
NM_004380.3(CREBBP):c.4134-1G>T	1387	CREBBP	Likely pathogenic	rs886041048	RCV000258851;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3789726	3789726	NC_000016.9:g.3789726C>A	ClinGen:CA10602670	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4133+9G>A	1387	CREBBP	Benign/Likely benign	rs376602227	RCV000878353\|RCV002495330;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790391	3790391	16:g.3790391C>T	-
NM_004380.3(CREBBP):c.4133+1G>A	1387	CREBBP	Pathogenic	rs587783491	RCV000145749;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790399	3790399	NC_000016.9:g.3790399C>T	ClinGen:CA271407	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	1387	CREBBP	Likely pathogenic	rs121434626	RCV000010037;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790400	3790400	16:g.3790400C>G	ClinGen:CA254813,UniProtKB:Q92793#VAR_015578,OMIM:600140.0003	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala)	1387	CREBBP	Uncertain significance	-1	RCV001596625\|RCV002495963;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3790412	3790412	3790412	-
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)	1387	CREBBP	Benign/Likely benign	rs3025679	RCV000874955\|RCV002064784\|RCV002320042\|RCV002495309;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3790414	3790414	16:g.3790414G>A	-
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs)	1387	CREBBP	Pathogenic	rs1596813570	RCV000856871;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790454	3790455	16:g.3790454_3790455insG	-
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)	1387	CREBBP	Pathogenic	rs587783490	RCV000145748\|RCV002464124;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3790455	3790455	16:g.3790455G>A	ClinGen:CA271405	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)	1387	CREBBP	Likely pathogenic	-1	RCV002287221;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790462	3790466	3790461	-
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)	1387	CREBBP	Pathogenic	rs587783489	RCV000145747;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790488	3790488	NC_000016.9:g.3790488G>A	ClinGen:CA271403	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)	1387	CREBBP	Likely pathogenic	rs1596813665	RCV000856870;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790493	3790493	16:g.3790493C>G	-
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)	1387	CREBBP	Likely pathogenic	rs587783488	RCV000145746;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790511	3790511	NC_000016.9:g.3790511C>G	ClinGen:CA271401	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)	1387	CREBBP	Uncertain significance	-1	RCV001807948;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790520	3790520	3790520	-
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg)	1387	CREBBP	Uncertain significance	rs587783487	RCV000145745;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790544	3790544	NC_000016.9:g.3790544T>C	ClinGen:CA271399	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3983-1G>C	1387	CREBBP	Likely pathogenic	-1	RCV002250932;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790551	3790551	3790551	-
NM_004380.3(CREBBP):c.3983-2A>G	1387	CREBBP	Pathogenic	rs587783486	RCV000145744;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3790552	3790552	NC_000016.9:g.3790552T>C	ClinGen:CA271398	C0035934 180849 Rubinstein-Taybi syndrome;
NC_000016.10:g.(?_3744874)_(3758992_?)del	1387	CREBBP	Likely pathogenic	-1	RCV000633005\|RCV001379794;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3794875	3808993		-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3982+9C>T	1387	CREBBP	Benign/Likely benign	rs114668693	RCV000952236\|RCV001516440\|RCV002502939;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3794886	3794886	16:g.3794886G>A	-
NM_004380.3(CREBBP):c.3982+3A>T	1387	CREBBP	Likely pathogenic	rs1596823180	RCV000989508;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3794892	3794892	16:g.3794892T>A	-
NM_004380.3(CREBBP):c.3982+1G>A	1387	CREBBP	Pathogenic	rs398124145	RCV000081051\|RCV000499536;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3794894	3794894	16:g.3794894C>T	ClinGen:CA222694	CN517202 not provided;
GRCh37/hg19 16p13.3(chr16:3794894-3795355)	1387	CREBBP	Pathogenic	-1	RCV000754906;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3794894	3795355		-
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile)	1387	CREBBP	Uncertain significance	-1	RCV002253117\|RCV002481058;	N	\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3794903	3794903	3794903	-
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)	1387	CREBBP	Likely pathogenic	-1	RCV001814883;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3794937	3794937	3794937	-
NM_004380.3(CREBBP):c.3914+3G>T	1387	CREBBP	Likely pathogenic	rs587783485	RCV000145743;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3795275	3795275	NC_000016.9:g.3795275C>A	ClinGen:CA271397	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3914+1G>T	1387	CREBBP	Pathogenic	rs1555475352	RCV000502986;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3795277	3795277	NC_000016.9:g.3795277C>A	ClinGen:CA394566710	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3914+1G>A	1387	CREBBP	Pathogenic	rs1555475352	RCV000856869;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3795277	3795277	16:g.3795277C>T	-
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)	1387	CREBBP	Uncertain significance	-1	RCV002251263;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3795285	3795285	3795285	-
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)	1387	CREBBP	Uncertain significance	-1	RCV001420511;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3795299	3795299	3795299	-
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His)	1387	CREBBP	Uncertain significance	rs2052315739	RCV001196918;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3795300	3795300	16:g.3795300A>G	-
NM_004380.3(CREBBP):c.3837-2A>T	1387	CREBBP	Pathogenic	rs1567277287	RCV000010041;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3795357	3795357	NC_000016.9:g.3795357T>A	OMIM:600140.0007
NM_004380.3(CREBBP):c.3699-1469_3836+1579del	1387	CREBBP	Pathogenic	-1	RCV001526445;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3798049	3803276	3798048	-
NC_000016.9:g.(?_3799608)_(3821007_?)dup	1387	CREBBP	Pathogenic	-1	RCV000707927\|RCV001380926;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3799608	3821007		-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3836+1G>A	1387	CREBBP	Pathogenic	rs200782888	RCV000145741\|RCV001390957;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3799627	3799627	NC_000016.9:g.3799627C>T	ClinGen:CA271396	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg)	1387	CREBBP	Uncertain significance	rs749189606	RCV001331219;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3799628	3799628	3799628	-
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	1387	CREBBP	Pathogenic/Likely pathogenic	rs267606752	RCV000010040\|RCV000255660\|RCV001260694\|RCV001267080\|RCV001813970\|RCV002496320;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype	16	3799632	3799632	16:g.3799632C>T	ClinGen:CA254815,UniProtKB:Q92793#VAR_035080,OMIM:600140.0006	CN517202 not provided;
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs)	1387	CREBBP	Pathogenic	rs1596834998	RCV000856914;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3799632	3799632	16:g.3799632_3799632del	-
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)	1387	CREBBP	Likely pathogenic	-1	RCV002226836;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3799632	3799632	3799632	-
NM_004380.3(CREBBP):c.3779+1G>A	1387	CREBBP	Pathogenic	rs587783483	RCV000145739\|RCV000255068\|RCV001260696\|RCV002498664;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype	16	3801726	3801726	16:g.3801726C>T	ClinGen:CA271393	CN517202 not provided;
NM_004380.3(CREBBP):c.3779+1G>T	1387	CREBBP	Pathogenic	rs587783483	RCV000856913\|RCV002536209;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3801726	3801726	16:g.3801726C>A	-
NM_004380.3(CREBBP):c.3779+1G>C	1387	CREBBP	Likely pathogenic	rs587783483	RCV001252207;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3801726	3801726	16:g.3801726C>G	-
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)	1387	CREBBP	Uncertain significance	-1	RCV002471593;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3801757	3801757	NC_000016.9:g.3801757G>T	-
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs1596839714	RCV000856912\|RCV001858527;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3801787	3801787	16:g.3801787C>T	-
NM_004380.3(CREBBP):c.3698+7G>A	1387	CREBBP	Benign/Likely benign	rs374345970	RCV000175448\|RCV000633001\|RCV001640267\|RCV002492745;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807282	3807282	16:g.3807282C>T	ClinGen:CA241202	CN169374 not specified;
NM_004380.3(CREBBP):c.3698+5G>T	1387	CREBBP	Uncertain significance	rs1596852349	RCV000856911;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807284	3807284	16:g.3807284C>A	-
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)	1387	CREBBP	Likely pathogenic	rs1057518844	RCV000415361\|RCV001198296;	N	Human Phenotype Ontology:HP:0000501,MONDO:MONDO:0005041,MedGen:C0017601; Human Phenotype Ontology:HP:0001172,MONDO:MONDO:0008561,MedGen:C0575897,OMIM:188100\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807289	3807289	NC_000016.9:g.3807289C>T	ClinGen:CA16043514	C0575897 188100 Abnormality of the thumb;
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)	1387	CREBBP	Pathogenic	rs748451307	RCV000856910;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807297	3807297	16:g.3807297A>C	-
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)	1387	CREBBP	Pathogenic	rs1596852443	RCV000856909;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807322	3807326	16:g.3807322_3807326del	-
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)	1387	CREBBP	Pathogenic	rs1596852463	RCV000856908;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807327	3807328	16:g.3807327_3807328insACCAT	-
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys)	1387	CREBBP	Uncertain significance	-1	RCV001663140\|RCV002495982;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3807346	3807346	3807346	-
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)	1387	CREBBP	Pathogenic	rs1596852578	RCV000856907\|RCV002453935;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123	16	3807362	3807362	16:g.3807362G>A	-
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)	1387	CREBBP	Pathogenic/Likely pathogenic	rs2052611239	RCV001091532\|RCV001759862;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807363	3807364	16:g.3807363_3807364insG	-
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)	1387	CREBBP	Pathogenic	rs587783482	RCV000145738;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807374	3807374	NC_000016.9:g.3807374C>A	ClinGen:CA271391	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3610-1G>C	1387	CREBBP	Pathogenic	rs1596852670	RCV000856905;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807378	3807378	16:g.3807378C>G	-
NM_004380.3(CREBBP):c.3610-2A>G	1387	CREBBP	Pathogenic	rs1596852674	RCV000856906;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807379	3807379	16:g.3807379T>C	-
NM_004380.3(CREBBP):c.3598del (p.Cys1200fs)	1387	CREBBP	Pathogenic	rs2052622209	RCV001261356;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807821	3807821	16:g.3807821_3807821del	-
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)	1387	CREBBP	Likely pathogenic	rs1596853925	RCV001027692;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807844	3807924	16:g.3807844_3807924del	-
NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr)	1387	CREBBP	Uncertain significance	-1	RCV001823504;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807848	3807848	3807848	-
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)	1387	CREBBP	Likely pathogenic	rs1596854023	RCV000856904;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807884	3807884	16:g.3807884T>C	-
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)	1387	CREBBP	Likely pathogenic	-1	RCV002510718;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807892	3807915	NC_000016.9:g.3807899_3807922del	-
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	1387	CREBBP	Likely pathogenic	rs28937315	RCV000010039;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807895	3807895	16:g.3807895T>C	OMIM:600140.0005,ClinGen:CA254814,UniProtKB:Q92793#VAR_037305	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)	1387	CREBBP	Likely pathogenic	-1	RCV000760233;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807907	3807907	NC_000016.9:g.3807907G>C	-
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs587783481	RCV000145737\|RCV002228523;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3807919	3807919	NC_000016.9:g.3807919T>C	ClinGen:CA271389	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)	1387	CREBBP	Likely pathogenic	rs797045492	RCV000192723\|RCV001261355;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|	16	3807929	3807929	16:g.3807929C>G	ClinGen:CA277012	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	1387	CREBBP	Uncertain significance	-1	RCV002247112\|RCV002481054;	N	MedGen:CN169374\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807934	3807934	3807934	-
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=)	1387	CREBBP	Likely benign	rs1447337021	RCV002317410\|RCV002499320\|RCV002534962;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3807954	3807954	NC_000016.9:g.3807954G>A	-
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)	1387	CREBBP	Pathogenic	rs797045490	RCV000194047;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807957	3807958	NC_000016.9:g.3807958dupA	ClinGen:CA277251	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)	1387	CREBBP	Pathogenic	rs797045489	RCV000192840;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807983	3807983	NC_000016.9:g.3807983G>A	ClinGen:CA277030	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)	1387	CREBBP	Pathogenic	rs1596854369	RCV000856903;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3807986	3807987	16:g.3807986_3807987del	-
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)	1387	CREBBP	Likely pathogenic	-1	RCV001808129;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808001	3808001	3808000	-
NM_004380.3(CREBBP):c.3370-2A>G	1387	CREBBP	Likely pathogenic	-1	RCV001807959;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808051	3808051	3808051	-
NM_004380.3(CREBBP):c.3370-5_3370-4del	1387	CREBBP	Benign/Likely benign	rs75459669	RCV000175314\|RCV000864230\|RCV002313041\|RCV002500478;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808053	3808054	16:g.3808053_3808054del	ClinGen:CA201388	CN169374 not specified;
NM_004380.3(CREBBP):c.3370-4del	1387	CREBBP	Benign/Likely benign	rs75459669	RCV000202810\|RCV001516758\|RCV001707554\|RCV002311315\|RCV002503795;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3808053	3808053	16:g.3808053_3808053del	ClinGen:CA249010	CN169374 not specified;
NM_004380.3(CREBBP):c.3370-17A>T	1387	CREBBP	Likely benign	-1	RCV002116537\|RCV002486940;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3808066	3808066	3808066	-
NM_004380.3(CREBBP):c.3369+1G>T	1387	CREBBP	Pathogenic/Likely pathogenic	rs587783480	RCV000145736\|RCV001268616;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3808854	3808854	16:g.3808854C>A	ClinGen:CA271388	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3369+1del	1387	CREBBP	Pathogenic	-1	RCV001420156;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808854	3808854	3808853	-
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)	1387	CREBBP	Pathogenic	rs1596856176	RCV000856868;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808857	3808858	16:g.3808857_3808858insA	-
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)	1387	CREBBP	Pathogenic	rs1596856285	RCV000856867;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808890	3808894	16:g.3808890_3808894del	-
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)	1387	CREBBP	Pathogenic	rs587783479	RCV000145735;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808914	3808914	NC_000016.9:g.3808914G>A	ClinGen:CA271386	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)	1387	CREBBP	Pathogenic	rs1596856390	RCV000856866;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3808932	3808932	16:g.3808932_3808932del	-
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=)	1387	CREBBP	Likely benign	-1	RCV002210936\|RCV002325709\|RCV003089109;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3808972	3808972	3808972	-
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn)	1387	CREBBP	Uncertain significance	-1	RCV001801255;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817722	3817722	3817722	-
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)	1387	CREBBP	Uncertain significance	-1	RCV001658967\|RCV002488449\|RCV002539623;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3817738	3817738	3817738	-
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe)	1387	CREBBP	Uncertain significance	rs1476678901	RCV001331218;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817744	3817744	3817744	-
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=)	1387	CREBBP	Likely benign	-1	RCV002155861\|RCV002486972;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3817767	3817767	3817767	-
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys)	1387	CREBBP	Uncertain significance	rs886041006	RCV000258504;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817781	3817781	16:g.3817781C>T	ClinGen:CA10602613	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)	1387	CREBBP	Pathogenic	rs1596878700	RCV000856865;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817802	3817803	16:g.3817802_3817803insT	-
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)	1387	CREBBP	Uncertain significance	-1	RCV002472013;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817808	3817808	NC_000016.9:g.3817808C>A	-
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)	1387	CREBBP	Benign/Likely benign	rs61731376	RCV000081047\|RCV000870669\|RCV001682774\|RCV002311608\|RCV002504996;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817843	3817843	16:g.3817843G>A	ClinGen:CA148119	CN169374 not specified;
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)	1387	CREBBP	Pathogenic	rs1596878921	RCV000856864;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817874	3817874	16:g.3817874T>A	-
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)	1387	CREBBP	Pathogenic	rs797045488	RCV000194630;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817886	3817894	NC_000016.9:g.3817886_3817894delinsTT	ClinGen:CA277351	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3061-1G>T	1387	CREBBP	Pathogenic	rs1555481030	RCV000661965;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3817911	3817911	NC_000016.9:g.3817911C>A	-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.3060+9C>T	1387	CREBBP	Likely benign	rs372291994	RCV002502898\|RCV002547181;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3819166	3819166	16:g.3819166G>A	-
NM_004380.3(CREBBP):c.3060+1G>T	1387	CREBBP	Pathogenic	rs1596882004	RCV000856863;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3819174	3819174	16:g.3819174C>A	-
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)	1387	CREBBP	Pathogenic	rs1596882010	RCV000856862;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3819177	3819177	16:g.3819177C>A	-
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)	1387	CREBBP	Pathogenic	rs1596882124	RCV000856861;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3819213	3819214	16:g.3819213_3819214insCT	-
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)	1387	CREBBP	Benign/Likely benign	rs774653315	RCV000968912\|RCV001816775\|RCV002060926\|RCV002318055\|RCV002499315;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3819214	3819214	NC_000016.9:g.3819214C>G	-
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)	1387	CREBBP	Benign/Likely benign	rs142528559	RCV000081044\|RCV000871211\|RCV001711191\|RCV002313772\|RCV002504995;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3819262	3819262	16:g.3819262G>A	ClinGen:CA148115	CN169374 not specified;
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr)	1387	CREBBP	Benign	rs61753380	RCV000081042\|RCV000509267\|RCV000870748\|RCV001618250\|RCV002311606;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	3819294	3819294	16:g.3819294C>T	ClinGen:CA148113	CN169374 not specified;
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)	1387	CREBBP	Pathogenic	rs1374436403	RCV000856860;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3819324	3819324	16:g.3819324T>A	-
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs)	1387	CREBBP	Pathogenic	rs1596882629	RCV000856859;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3819324	3819325	16:g.3819324_3819325insG	-
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs)	1387	CREBBP	Pathogenic	rs1596885651	RCV000856858;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820587	3820588	16:g.3820587_3820588insGGGCGTGCAC	-
NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr)	1387	CREBBP	Uncertain significance	rs373284909	RCV000731974\|RCV002493340;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3820591	3820591	NC_000016.9:g.3820591C>T	-
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs369930675	RCV001293919\|RCV002486106\|RCV002538429;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,O	16	3820597	3820597	3820597	-
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)	1387	CREBBP	Benign/Likely benign	-1	RCV001583471\|RCV002495932\|RCV003106237;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3820605	3820605	3820605	-
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)	1387	CREBBP	Pathogenic	rs1596885894	RCV000856857;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820633	3820634	16:g.3820634_3820634del	-
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs)	1387	CREBBP	Pathogenic	rs797045485	RCV000194548;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820640	3820641	NC_000016.9:g.3820645dup	ClinGen:CA277340	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)	1387	CREBBP	Pathogenic	rs587783475	RCV000145730;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820660	3820660	NC_000016.9:g.3820660G>A	ClinGen:CA271379	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)	1387	CREBBP	Pathogenic	rs1596886048	RCV000856856;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820663	3820664	16:g.3820663_3820664insC	-
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)	1387	CREBBP	Pathogenic	rs1596886132	RCV000856855;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820678	3820678	16:g.3820678G>A	-
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	1387	CREBBP	Benign/Likely benign	rs143247685	RCV000022942\|RCV000145728\|RCV000421582\|RCV001087789\|RCV001252206\|RCV002224958\|RCV002311524;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phe	16	3820723	3820723	16:g.3820723T>C	ClinGen:CA171789,UniProtKB:Q92793#VAR_072917,OMIM:600140.0008	CN517202 not provided;
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs)	1387	CREBBP	Pathogenic	rs1596886295	RCV000856854;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820732	3820738	16:g.3820732_3820738del	-
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs)	1387	CREBBP	Pathogenic	rs797045484	RCV000193709;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820761	3820772	NC_000016.9:g.3820761_3820772delinsGG	ClinGen:CA277190	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)	1387	CREBBP	Uncertain significance	rs587783474	RCV000145727;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820772	3820772	NC_000016.9:g.3820772C>T	ClinGen:CA271377	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)	1387	CREBBP	Benign/Likely benign	rs142047649	RCV000081040\|RCV000429335\|RCV000989509\|RCV001086640\|RCV002313771\|RCV002498423;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MOND	16	3820773	3820773	16:g.3820773G>A	ClinGen:CA148111	CN517202 not provided;
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=)	1387	CREBBP	Benign/Likely benign	rs781112420	RCV001712214\|RCV002064944\|RCV002318408\|RCV002506026;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3820835	3820835	16:g.3820835C>T	ClinGen:CA7870063	CN169374 not specified;
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)	1387	CREBBP	Pathogenic	rs587783473	RCV000145726;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820844	3820845	NC_000016.9:g.3820844_3820845delGA	ClinGen:CA271376	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro)	1387	CREBBP	Uncertain significance	rs587783472	RCV000145725;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820845	3820845	NC_000016.9:g.3820845A>G	ClinGen:CA271374	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	1387	CREBBP	Conflicting interpretations of pathogenicity	-1	RCV001756480\|RCV001882821\|RCV002539869\|RCV002496068;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3820853	3820853	3820853	-
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs542970560	RCV001197022\|RCV002561049;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3820894	3820894	16:g.3820894G>T	-
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)	1387	CREBBP	Pathogenic	rs587783471	RCV000145724;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820916	3820916	NC_000016.9:g.3820916G>T	ClinGen:CA271372	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser)	1387	CREBBP	Uncertain significance	rs2052990480	RCV001253247;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820921	3820921	16:g.3820921G>A	-
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	1387	CREBBP	Uncertain significance	rs759041100	RCV001197473\|RCV002480647;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3820946	3820946	16:g.3820946C>A	-
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile)	1387	CREBBP	Uncertain significance	rs759041100	RCV001199275;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820946	3820946	16:g.3820946C>T	-
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser)	1387	CREBBP	Benign/Likely benign	rs779000839	RCV001696223\|RCV002318031\|RCV002533026\|RCV002477662;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3820969	3820969	NC_000016.9:g.3820969C>A	-
NM_004380.3(CREBBP):c.2464-7C>G	1387	CREBBP	Likely benign	-1	RCV001472431\|RCV002495698;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3820994	3820994	3820994	-
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)	1387	CREBBP	Pathogenic	rs1596894889	RCV000856902;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823758	3823759	16:g.3823758_3823759insA	-
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=)	1387	CREBBP	Likely benign	-1	RCV001564076\|RCV002458531\|RCV002495900\|RCV002573186;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3823776	3823776	3823776	-
NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs)	1387	CREBBP	Pathogenic	-1	RCV002245282;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823778	3823779	3823778	-
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs750178517	RCV001198921\|RCV002480650\|RCV002560261;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,O	16	3823795	3823795	16:g.3823795C>G	-
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg)	1387	CREBBP	Uncertain significance	rs1596895058	RCV000856901;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823798	3823798	16:g.3823798A>C	-
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys)	1387	CREBBP	Uncertain significance	rs1596895058	RCV001255112\|RCV002570581\|RCV002504376;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823798	3823798	16:g.3823798A>T	-
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr)	1387	CREBBP	Uncertain significance	rs1596895058	RCV001270737;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823798	3823798	16:g.3823798A>G	-
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)	1387	CREBBP	Benign/Likely benign	rs139207930	RCV000596046\|RCV001584406\|RCV002448836\|RCV002491218\|RCV002532587;	N	MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3823806	3823806	16:g.3823806G>A	ClinGen:CA7870145	CN169374 not specified;
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup)	1387	CREBBP	Likely benign	rs1596895167	RCV000989510;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823814	3823815	16:g.3823814_3823815insCGGGAACTGGTTCTGTGG	-
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=)	1387	CREBBP	Likely benign	rs756570921	RCV000905603\|RCV002495478\|RCV002454083\|RCV002542086;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3823815	3823815	16:g.3823815C>T	-
NM_004380.3(CREBBP):c.2330del (p.Gly777fs)	1387	CREBBP	Pathogenic	rs1596895500	RCV000856900;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823885	3823885	16:g.3823885_3823885del	-
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr)	1387	CREBBP	Uncertain significance	rs1555482779	RCV000625604;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3823901	3823901	16:g.3823901G>T	ClinGen:CA394553093	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs147805823	RCV000081037\|RCV001854429\|RCV002477232\|RCV002514426;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123	16	3823903	3823903	16:g.3823903T>C	ClinGen:CA222683	CN169374 not specified;
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)	1387	CREBBP	Uncertain significance	-1	RCV001806591\|RCV002478034;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3823912	3823912	3823912	-
NM_004380.3(CREBBP):c.2178dup (p.Met727fs)	1387	CREBBP	Pathogenic	rs797045483	RCV000192496;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3824674	3824675	NC_000016.9:g.3824678dup	ClinGen:CA276978	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2159-1G>T	1387	CREBBP	Pathogenic	rs1596897799	RCV000856899;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3824695	3824695	16:g.3824695C>A	-
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)	1387	CREBBP	Pathogenic	rs587783470	RCV000145723;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3827649	3827650	NC_000016.9:g.3827649_3827650delAG	ClinGen:CA271371	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=)	1387	CREBBP	Likely benign	rs778065124	RCV000925249\|RCV002067046\|RCV002318709\|RCV002499319;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3827654	3827654	NC_000016.9:g.3827654T>C	-
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=)	1387	CREBBP	Likely benign	rs766050154	RCV002495475\|RCV002537582;	N	MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3828061	3828061	16:g.3828061C>T	-
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)	1387	CREBBP	Likely pathogenic	rs1555483716	RCV000624200;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828094	3828094	NC_000016.9:g.3828094del	ClinGen:CA658798530	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2026del (p.Gln676fs)	1387	CREBBP	Pathogenic	rs587783469	RCV000145722;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828099	3828099	NC_000016.9:g.3828099delG	ClinGen:CA271370	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)	1387	CREBBP	Pathogenic	rs2053190428	RCV001253817;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828148	3828148	16:g.3828148G>T	-
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro)	1387	CREBBP	Uncertain significance	rs587783468	RCV000145721;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828170	3828170	NC_000016.9:g.3828170T>G	ClinGen:CA271368	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1941+8G>A	1387	CREBBP	Uncertain significance	-1	RCV002275579;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828693	3828693	3828693	-
NM_004380.3(CREBBP):c.1941+2T>C	1387	CREBBP	Pathogenic	rs1596909656	RCV000856898;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828699	3828699	16:g.3828699A>G	-
NM_004380.3(CREBBP):c.1941+1G>T	1387	CREBBP	Pathogenic	rs1555483834	RCV000754898;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828700	3828700	NC_000016.9:g.3828700C>A	-
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)	1387	CREBBP	Likely pathogenic	-1	RCV002077368;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828712	3828712	3828712	-
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)	1387	CREBBP	Pathogenic	rs1596909791	RCV000856897;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828730	3828735	16:g.3828730_3828735del	-
NM_004380.3(CREBBP):c.1911del (p.Asp639fs)	1387	CREBBP	Pathogenic	-1	RCV002223099;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828731	3828731	3828730	-
NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)	1387	CREBBP	Pathogenic	-1	RCV003128091;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828768	3828775	NC_000016.9:g.3828769_3828776del	-
NM_004380.3(CREBBP):c.1824-1G>A	1387	CREBBP	Pathogenic	rs1596910004	RCV000856896;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3828819	3828819	16:g.3828819C>T	-
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)	1387	CREBBP	Likely pathogenic	rs2053254528	RCV001249727;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3830733	3830733	16:g.3830733A>G	-
NM_004380.3(CREBBP):c.1821del (p.Lys607fs)	1387	CREBBP	Pathogenic	rs587783467	RCV000145719;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3830735	3830735	NC_000016.9:g.3830735delT	ClinGen:CA271367	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)	1387	CREBBP	Likely pathogenic	rs1354934373	RCV000856895;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3830755	3830755	16:g.3830755G>A	-
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)	1387	CREBBP	Uncertain significance	-1	RCV002466801;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3830780	3830780	NC_000016.9:g.3830780C>G	-
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs148023511	RCV000153119\|RCV000764070\|RCV002316965\|RCV003105799;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3830824	3830824	16:g.3830824G>A	ClinGen:CA233869	CN169374 not specified;
NM_004380.3(CREBBP):c.1694del (p.Gly565fs)	1387	CREBBP	Pathogenic	rs1596916327	RCV000989511;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3830862	3830862	16:g.3830862_3830862del	-
NM_004380.3(CREBBP):c.1676+2_1676+5del	1387	CREBBP	Pathogenic	-1	RCV001730138;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3831200	3831203	3831199	-
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)	1387	CREBBP	Pathogenic	rs1596917200	RCV000856894;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3831235	3831235	16:g.3831235G>C	-
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=)	1387	CREBBP	Likely benign	rs371285951	RCV000597528\|RCV002395516\|RCV002530982\|RCV002506406;	N	MedGen:CN169374\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3831248	3831248	16:g.3831248A>G	ClinGen:CA7870403	CN169374 not specified;
NM_004380.3(CREBBP):c.1627C>G (p.Pro543Ala)	1387	CREBBP	Likely benign	-1	RCV001355418\|RCV002471094;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3831254	3831254	3831254	-
NM_004380.3(CREBBP):c.1590del (p.Asn530fs)	1387	CREBBP	Pathogenic	rs587783465	RCV000145717;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3831291	3831291	NC_000016.9:g.3831291delG	ClinGen:CA271364	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val)	1387	CREBBP	Uncertain significance	rs747187975	RCV000850462\|RCV002487880;	N	MedGen:CN263130\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3831296	3831296	16:g.3831296T>C	-
NM_004380.3(CREBBP):c.1574-12C>T	1387	CREBBP	Benign	-1	RCV001649604\|RCV002073005\|RCV002477867;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3831319	3831319	3831319	-
NM_004380.3(CREBBP):c.1573+1G>A	1387	CREBBP	Pathogenic	rs1596920360	RCV000856893;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3832684	3832684	16:g.3832684C>T	-
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)	1387	CREBBP	Pathogenic	rs1567309482	RCV000678969;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3832695	3832696	16:g.3832695_3832696del	-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)	1387	CREBBP	Pathogenic	rs1596920501	RCV000856892\|RCV001234331;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3832709	3832709	16:g.3832709G>A	-
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs766320521	RCV000731898\|RCV001868968\|RCV002485905;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3832738	3832738	NC_000016.9:g.3832738T>C	-
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)	1387	CREBBP	Pathogenic	rs1596920745	RCV000856891;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3832775	3832775	16:g.3832775G>A	-
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs369459749	RCV000081029\|RCV002265601\|RCV002381401\|RCV002514423;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3832889	3832889	16:g.3832889T>C	ClinGen:CA222672	CN169374 not specified;
NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)	1387	CREBBP	Pathogenic	rs1567316655	RCV000754900;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3842031	3842032	NC_000016.9:g.3842032_3842033del	-
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)	1387	CREBBP	Pathogenic	rs587783464	RCV000145716\|RCV001824287;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3842042	3842042	NC_000016.9:g.3842042G>A	ClinGen:CA271362	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)	1387	CREBBP	Pathogenic	rs587783463	RCV000145715;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3842055	3842055	NC_000016.9:g.3842055C>T	ClinGen:CA271360	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)	1387	CREBBP	Pathogenic	rs1302427305	RCV000501651\|RCV000579110;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202	16	3842075	3842075	NC_000016.9:g.3842075G>A	ClinGen:CA394560862	CN517202 not provided;
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs)	1387	CREBBP	Pathogenic	rs1596944340	RCV000856890;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3842081	3842087	16:g.3842081_3842087del	-
NM_004380.3(CREBBP):c.1216+2T>A	1387	CREBBP	Pathogenic	rs1596947522	RCV000856889;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843385	3843385	16:g.3843385A>T	-
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)	1387	CREBBP	Uncertain significance	rs2053544204	RCV001249728;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843390	3843390	16:g.3843390G>C	-
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)	1387	CREBBP	Pathogenic	rs587783461	RCV000145713;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843447	3843447	16:g.3843447G>A	ClinGen:CA271358	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs61759495	RCV000081028\|RCV000145712\|RCV000872923\|RCV001610371\|RCV002311602;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	3843454	3843454	16:g.3843454C>T	ClinGen:CA148108	CN169374 not specified;
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=)	1387	CREBBP	Likely benign	rs147342740	RCV000929983\|RCV002488008;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3843460	3843460	16:g.3843460C>T	-
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs)	1387	CREBBP	Pathogenic	rs1596947732	RCV000856853;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843474	3843475	16:g.3843474_3843475insCT	-
NM_004380.3(CREBBP):c.1124del (p.Gly375fs)	1387	CREBBP	Pathogenic	rs1596947743	RCV000856852;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843479	3843479	16:g.3843479_3843479del	-
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)	1387	CREBBP	Pathogenic	rs1384496494	RCV000856851\|RCV001526626;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|Human Phenotype Ontology:HP:0001274,Human Phenotype Ontology:HP:0006800,MONDO:MONDO:0009022,MedGen:C0175754,OMIM:217990, Orphanet:200	16	3843495	3843495	16:g.3843495G>A	-
NM_004380.3(CREBBP):c.1095T>C (p.His365=)	1387	CREBBP	Benign/Likely benign	rs565069106	RCV000876664\|RCV002064861\|RCV002507538;	N	MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3843508	3843508	16:g.3843508A>G	-
NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)	1387	CREBBP	Likely benign	-1	RCV002471961;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843513	3843513	NC_000016.9:g.3843513C>G	-
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)	1387	CREBBP	Pathogenic	rs121434625	RCV000010036;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843534	3843534	16:g.3843534G>A	ClinGen:CA254811,OMIM:600140.0002	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)	1387	CREBBP	Pathogenic	rs587783460	RCV000145711;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843540	3843540	NC_000016.9:g.3843540G>A	ClinGen:CA271356	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.1062dup (p.Gln355fs)	1387	CREBBP	Pathogenic	rs1567318022	RCV000754899;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843540	3843541	NC_000016.9:g.3843541dup	-
NM_004380.3(CREBBP):c.1044del (p.Glu349fs)	1387	CREBBP	Pathogenic	rs1596948052	RCV000856850;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843559	3843559	16:g.3843559_3843559del	-
NM_004380.3(CREBBP):c.998G>A (p.Gly333Glu)	1387	CREBBP	Likely benign	rs2053548814	RCV001255819;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843605	3843605	16:g.3843605C>T	-
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)	1387	CREBBP	Pathogenic	rs1596948165	RCV000856849;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3843606	3843606	16:g.3843606C>A	-
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs)	1387	CREBBP	Pathogenic	rs1596984633	RCV000856848;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3860604	3860605	16:g.3860604_3860605insATATTTGG	-
NM_004380.3(CREBBP):c.960C>T (p.Thr320=)	1387	CREBBP	Likely benign	rs898885851	RCV000878765\|RCV002495333;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3860619	3860619	16:g.3860619G>A	-
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)	1387	CREBBP	Pathogenic	rs587783516	RCV000145784;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3860626	3860626	NC_000016.9:g.3860626G>T	ClinGen:CA271443	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.879G>A (p.Val293=)	1387	CREBBP	Benign/Likely benign	rs144344016	RCV000533308\|RCV000728991\|RCV001644627\|RCV002377024\|RCV002483375;	N	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3860700	3860700	16:g.3860700C>T	ClinGen:CA7870567	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)	1387	CREBBP	Uncertain significance	-1	RCV001837202;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3860701	3860701	3860701	-
NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)	1387	CREBBP	Uncertain significance	-1	RCV002510633;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3860704	3860704	NC_000016.9:g.3860704C>T	-
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)	1387	CREBBP	Likely pathogenic	-1	RCV001268960;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3860719	3860720	NC_000016.9:g.3860719_3860720inv	-
NM_004380.3(CREBBP):c.851del (p.Gly284fs)	1387	CREBBP	Pathogenic	-1	RCV002283594;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3860728	3860728	3860727	-
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro)	1387	CREBBP	Benign/Likely benign	rs577305576	RCV000347899\|RCV002502125\|RCV002518956;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3860746	3860746	16:g.3860746T>G	ClinGen:CA7870574	CN169374 not specified;
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)	1387	CREBBP	Pathogenic	rs797045502	RCV000192380;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3860750	3860751	NC_000016.9:g.3860751_3860752dupAA	ClinGen:CA276962	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)	1387	CREBBP	Uncertain significance	rs1597053070	RCV000856847\|RCV002487884\|RCV002538886;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,O	16	3900324	3900324	16:g.3900324T>C	-
NM_004380.3(CREBBP):c.758A>G (p.His253Arg)	1387	CREBBP	Likely benign	rs142268920	RCV001255802;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900338	3900338	16:g.3900338T>C	-
NM_004380.3(CREBBP):c.753T>G (p.Thr251=)	1387	CREBBP	Benign/Likely benign	rs142403441	RCV000081073\|RCV001523570\|RCV001541503\|RCV002390236\|RCV002490711;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900343	3900343	16:g.3900343A>C	ClinGen:CA148152	CN169374 not specified;
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)	1387	CREBBP	Benign/Likely benign	rs146887252	RCV000175777\|RCV000878810\|RCV000989512\|RCV001753580\|RCV002372086\|RCV002485138;	N	MedGen:CN169374\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MOND	16	3900384	3900384	16:g.3900384C>G	ClinGen:CA241543	CN169374 not specified;
NM_004380.3(CREBBP):c.712G>A (p.Val238Met)	1387	CREBBP	Benign/Likely benign	-1	RCV001787508\|RCV002227559\|RCV002503277\|RCV002541261;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C0427144\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,	16	3900384	3900384	3900384	-
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs)	1387	CREBBP	Pathogenic	rs1597053322	RCV000856846;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900398	3900434	16:g.3900398_3900434del	-
NM_004380.3(CREBBP):c.681T>C (p.Pro227=)	1387	CREBBP	Benign/Likely benign	rs201193684	RCV000733293\|RCV001712738\|RCV002315273\|RCV002493277\|RCV003117519;	N	MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3900415	3900415	NC_000016.9:g.3900415A>G	-
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala)	1387	CREBBP	Uncertain significance	rs2054806972	RCV001196410;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900428	3900428	16:g.3900428C>G	-
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)	1387	CREBBP	Pathogenic	rs1597053504	RCV000856845;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900483	3900483	16:g.3900483G>A	-
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)	1387	CREBBP	Pathogenic	rs587783509	RCV000145774;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900498	3900498	NC_000016.9:g.3900498G>A	ClinGen:CA271434	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter)	1387	CREBBP	Pathogenic	rs1555496560	RCV000527062;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900588	3900588	NC_000016.9:g.3900588G>A	ClinGen:CA394560816	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs)	1387	CREBBP	Pathogenic	rs1597053795	RCV000856844;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900589	3900602	16:g.3900589_3900602del	-
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val)	1387	CREBBP	Uncertain significance	rs1295662710	RCV000856843;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900659	3900659	16:g.3900659G>A	-
NM_004380.3(CREBBP):c.435C>T (p.Pro145=)	1387	CREBBP	Likely benign	rs201435679	RCV002314367\|RCV002499309\|RCV002534545;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3900661	3900661	NC_000016.9:g.3900661G>A	-
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)	1387	CREBBP	Pathogenic	rs121434624	RCV000010035;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900690	3900690	16:g.3900690G>A	ClinGen:CA254809,OMIM:600140.0001	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)	1387	CREBBP	Pathogenic	rs1597054242	RCV000856842;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900720	3900720	16:g.3900720C>A	-
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs)	1387	CREBBP	Pathogenic	rs797045491	RCV000195252;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900746	3900747	NC_000016.9:g.3900747_3900748dupCA	ClinGen:CA277466	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)	1387	CREBBP	Pathogenic	rs587783478	RCV000145734;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900780	3900780	NC_000016.9:g.3900780G>A	ClinGen:CA271384	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.299del (p.Gly100fs)	1387	CREBBP	Pathogenic	rs587783477	RCV000145733;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900797	3900797	NC_000016.9:g.3900797delC	ClinGen:CA271383	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)	1387	CREBBP	Pathogenic	rs587783476	RCV000145732;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900810	3900810	NC_000016.9:g.3900810G>A	ClinGen:CA271381	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.282dup (p.Val95fs)	1387	CREBBP	Pathogenic	rs797045486	RCV000192951;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900813	3900814	NC_000016.9:g.3900814dupG	ClinGen:CA277056	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs756802946	RCV000989513\|RCV001655658\|RCV002550613;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3900813	3900813	16:g.3900813C>T	-
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)	1387	CREBBP	Conflicting interpretations of pathogenicity	rs200673670	RCV000658735\|RCV001198613;	N	MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900825	3900825	16:g.3900825C>A	-	CN517202 not provided;
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met)	1387	CREBBP	Likely benign	rs2054819160	RCV001255816;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900838	3900838	16:g.3900838T>C	-
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)	1387	CREBBP	Pathogenic	rs1597054662	RCV000856841;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900852	3900853	16:g.3900852_3900853insTA	-
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys)	1387	CREBBP	Uncertain significance	rs1318683084	RCV001336682;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900857	3900857	3900857	-
NM_004380.3(CREBBP):c.189del (p.Ala64fs)	1387	CREBBP	Likely pathogenic	-1	RCV002510739;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900907	3900907	NC_000016.9:g.3900907del	-
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs)	1387	CREBBP	Pathogenic	rs1597054837	RCV000856840;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3900911	3900923	16:g.3900911_3900923del	-
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)	1387	CREBBP	Uncertain significance	rs587783466	RCV000145718\|RCV002478406;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332	16	3900932	3900932	NC_000016.9:g.3900932T>C	ClinGen:CA271365	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.86-1G>T	1387	CREBBP	Pathogenic	rs11644721	RCV000193581;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3901011	3901011	NC_000016.9:g.3901011C>A	ClinGen:CA277172	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.86-2A>C	1387	CREBBP	Pathogenic	rs587783515	RCV000145783;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3901012	3901012	NC_000016.9:g.3901012T>G	ClinGen:CA271442	C0035934 180849 Rubinstein-Taybi syndrome;
NC_000016.9:g.(?_3929813)_(4387545_?)dup	1387	CREBBP	Uncertain significance	-1	RCV000708038\|RCV001308817;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849, Orphanet:783	16	3929813	4387545		-
NM_004380.3(CREBBP):c.85+1G>A	1387	CREBBP	Likely pathogenic	rs1597099388	RCV000850371;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929832	3929832	16:g.3929832C>T	-
NM_004380.2(CREBBP):c.(?_-23)_85+?del	1387	CREBBP	Pathogenic	-1	RCV000192615;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929833	3929940		-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.-204_85del (p.Met1fs)	1387	CREBBP	Pathogenic	rs1567386034	RCV000698529;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929833	3930121	NC_000016.9:g.3929834_3930122del	-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.69G>A (p.Ser23=)	1387	CREBBP	Uncertain significance	rs766095612	RCV001352939\|RCV002504567;	N	Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C0427144\|MONDO:MONDO:0020763,MedGen:C5193034,OMIM:618332; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929849	3929849	3929849	-
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	1387	CREBBP	Uncertain significance	rs1211983012	RCV001198521;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929856	3929856	16:g.3929856C>T	-
NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs)	1387	CREBBP	Pathogenic	rs2055490250	RCV001331220;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929870	3929871	3929870	-
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)	1387	CREBBP	Likely pathogenic	rs587783484	RCV000145740;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929881	3929881	NC_000016.9:g.3929881T>C	ClinGen:CA271394	C0035934 180849 Rubinstein-Taybi syndrome;
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)	1387	CREBBP	Pathogenic	rs797045487	RCV000193780;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	16	3929916	3929916	NC_000016.9:g.3929916A>T	ClinGen:CA277198	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.444G>A (p.Thr148=)	2033	EP300	Likely benign	rs376779611	RCV000279884\|RCV000908576;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783	22	41513540	41513540	22:g.41513540G>A	ClinGen:CA10252250	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	2033	EP300	Conflicting interpretations of pathogenicity	-1	RCV002489936\|RCV002545689\|RCV002545418;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783; MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MONDO:MONDO:0020769,MedGen:C5193035	22	41513550	41513550	41513550	-
NM_001429.4(EP300):c.631G>A (p.Gly211Ser)	2033	EP300	Benign	rs142030651	RCV000120712\|RCV001536992\|RCV002492421\|RCV002515842;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0013364,MedGen:C3150	22	41513727	41513727	22:g.41513727G>A	ClinGen:CA158496	C0699790 114500 Carcinoma of colon;
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)	2033	EP300	Conflicting interpretations of pathogenicity	-1	RCV001355626\|RCV002493823\|RCV002547613;	N	MedGen:CN517202\|MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333; MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783; MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,	22	41513791	41513791	41513791	-
NM_001429.4(EP300):c.730-18_730-9del	2033	EP300	Benign	rs61120041	RCV000079682\|RCV000371284\|RCV001689625\|RCV002514403;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783	22	41521849	41521858	22:g.41521849_41521858del	ClinGen:CA147277	C0699790 114500 Carcinoma of colon;
NM_001429.4(EP300):c.1516A>G (p.Met506Val)	2033	EP300	Uncertain significance	rs886057556	RCV000285290;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41527625	41527625	NC_000022.10:g.41527625A>G	ClinGen:CA10651393	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)	2033	EP300	Benign/Likely benign	rs146242251	RCV000120734\|RCV001537538\|RCV002498560\|RCV002514630;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0013364,MedGen:C3150	22	41527628	41527628	22:g.41527628A>G	ClinGen:CA158540	CN169374 not specified;
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)	2033	EP300	Benign/Likely benign	rs61756764	RCV000120704\|RCV000367429\|RCV001252243\|RCV001572648\|RCV002515839;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype	22	41542780	41542780	22:g.41542780T>G	ClinGen:CA158481	C0699790 114500 Carcinoma of colon;
NM_001429.4(EP300):c.2242-6_2242-4del	2033	EP300	Uncertain significance	rs747710183	RCV000260663;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41545025	41545027	NC_000022.10:g.41545036_41545038del	ClinGen:CA10651396	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)	2033	EP300	Benign/Likely benign	rs201480900	RCV000990449\|RCV001576395\|RCV002549745;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783	22	41545151	41545151	22:g.41545151C>T	-
NM_001429.4(EP300):c.2380-18T>C	2033	EP300	Benign/Likely benign	-1	RCV001595685\|RCV002501963\|RCV002592507;	N	MedGen:CN517202\|MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333; MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0005575,MedGen:C0346629	22	41545747	41545747	41545747	-
NM_001429.4(EP300):c.2499G>A (p.Ser833=)	2033	EP300	Benign/Likely benign	rs35560602	RCV000079672\|RCV001675607\|RCV002490693\|RCV002514400;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783; MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MON	22	41545884	41545884	22:g.41545884G>A	ClinGen:CA147262	C0699790 114500 Carcinoma of colon;
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)	2033	EP300	Benign/Likely benign	rs148884710	RCV000120708\|RCV000294667\|RCV000445350\|RCV002498558\|RCV002517582;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333; MONDO:MONDO:0008393,MedGen:C4551	22	41546158	41546158	22:g.41546158C>A	ClinGen:CA158488	CN517202 not provided;
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)	2033	EP300	Pathogenic	-1	RCV003127285;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41547912	41547912	NC_000022.10:g.41547912C>T	-
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs)	2033	EP300	Pathogenic	rs1601621506	RCV000856773;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41548282	41548283	22:g.41548282_41548283insT	-
NM_001429.4(EP300):c.3143-4del	2033	EP300	Conflicting interpretations of pathogenicity	rs757931697	RCV000175159\|RCV000297575\|RCV002516662;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783	22	41550985	41550985	22:g.41550985_41550985del	ClinGen:CA201326	CN169374 not specified;
NM_001429.4(EP300):c.3262-2A>G	2033	EP300	Pathogenic/Likely pathogenic	rs1555910114	RCV000578180\|RCV001034552;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800, Orphanet:138	22	41553171	41553171	22:g.41553171A>G	ClinGen:CA411694508	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)	2033	EP300	Likely pathogenic	rs565779970	RCV000190511\|RCV000990451;	N	MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41554487	41554487	22:g.41554487T>A	ClinGen:CA275975	C3150941 613684 Rubinstein-Taybi syndrome 2;
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)	2033	EP300	Uncertain significance	rs143660871	RCV000990452;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41556679	41556679	22:g.41556679C>G	-
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)	2033	EP300	Pathogenic	rs1601628237	RCV000990453\|RCV002549746;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783	22	41558756	41558757	22:g.41558756_41558757insA	-
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)	2033	EP300	Likely pathogenic	rs1601629319	RCV000990454;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41560077	41560077	22:g.41560077G>A	-
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)	2033	EP300	Uncertain significance	rs146119145	RCV000990455;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41564725	41564725	22:g.41564725G>A	-
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)	2033	EP300	Likely pathogenic	rs1601636935	RCV000990456;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41569700	41569701	22:g.41569700_41569701insT	-
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs)	2033	EP300	Likely pathogenic	rs2059210417	RCV001261286;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41573729	41573742	22:g.41573729_41573742del	-
NM_001429.4(EP300):c.6437C>A (p.Pro2146His)	2033	EP300	Uncertain significance	rs745528077	RCV000661969;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41574152	41574152	NC_000022.10:g.41574152C>A	-	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.6481A>G (p.Met2161Val)	2033	EP300	Benign/Likely benign	rs188035979	RCV000120718\|RCV001554913\|RCV002498559\|RCV002517585;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500, Orphanet:466667; MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333; MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0013364,MedGen:C3150	22	41574196	41574196	22:g.41574196A>G	ClinGen:CA158508	CN169374 not specified;
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	2033	EP300	Benign/Likely benign	rs533875300	RCV000120717\|RCV000394928\|RCV000514498\|RCV001027440;	N	MedGen:CN169374\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783	22	41574511	41574513	NC_000022.10:g.41574513_41574515del	ClinGen:CA158506	CN517202 not provided;
NM_001429.4(EP300):c.6912C>T (p.Ser2304=)	2033	EP300	Benign/Likely benign	rs113329190	RCV000308663\|RCV000883192\|RCV002523231;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783\|MedGen:CN517202\|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783	22	41574627	41574627	NC_000022.10:g.41574627C>T	ClinGen:CA10253974	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.6951G>A (p.Arg2317=)	2033	EP300	Benign/Likely benign	rs139551099	RCV001672614\|RCV002523232\|RCV002502315;	N	MedGen:CN517202\|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684, Orphanet:353284, Orphanet:783\|MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783; MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333; MONDO:MONDO:0013364,MedGen:C3150941	22	41574666	41574666	NC_000022.10:g.41574666G>A	ClinGen:CA10253986	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del)	2033	EP300	Uncertain significance	rs1601642386	RCV000990457;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41574724	41574738	22:g.41574724_41574738del	-
NM_001429.4(EP300):c.40_44del	2033	EP300	Uncertain significance	rs751376755	RCV000356031;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41574998	41575002	NC_000022.10:g.41575000_41575004del	ClinGen:CA10254086	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*340dup	2033	EP300	Likely benign	rs561569141	RCV000326718;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575292	41575293	NC_000022.10:g.41575300dup	ClinGen:CA10645611	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*592dup	2033	EP300	Uncertain significance	rs60283061	RCV000293084;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575537	41575538	NC_000022.10:g.41575552dup	ClinGen:CA10645613	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.591_592dup	2033	EP300	Uncertain significance	rs60283061	RCV000352830;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575537	41575538	NC_000022.10:g.41575551_41575552dup	ClinGen:CA10653583	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*592del	2033	EP300	Uncertain significance	rs60283061	RCV000397568;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575538	41575538	NC_000022.10:g.41575552del	ClinGen:CA10645612	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*745del	2033	EP300	Uncertain significance	rs532524940	RCV000280368;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575705	41575705	NC_000022.10:g.41575705del	ClinGen:CA10654163	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.785_786del	2033	EP300	Uncertain significance	rs886057577	RCV000389987;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575740	41575741	22:g.41575740_41575741del	ClinGen:CA10653586	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*921dup	2033	EP300	Uncertain significance	rs1161532977	RCV000401601;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575875	41575876	22:g.41575875_41575876insC	ClinGen:CA10651410	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.922_932delinsC	2033	EP300	Uncertain significance	rs886057580	RCV000270725;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575882	41575892	22:g.41575883_41575892del	ClinGen:CA10645616	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.922_932delinsCCC	2033	EP300	Uncertain significance	rs886057580	RCV000325816;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575882	41575892	22:g.41575883_41575892del	ClinGen:CA10645617	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.922_938delinsC	2033	EP300	Uncertain significance	rs886057581	RCV000366399;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575882	41575898	22:g.41575883_41575898del	ClinGen:CA10645622	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.922_942delinsCC	2033	EP300	Uncertain significance	rs1555912616	RCV000331628;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575882	41575902	22:g.41575883_41575902del	ClinGen:CA10651411	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.922_930delinsC	2033	EP300	Uncertain significance	rs1555912614	RCV000306058;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575882	41575890	22:g.41575883_41575890del	ClinGen:CA10653590	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.922_930delinsCCC	2033	EP300	Uncertain significance	rs1555912614	RCV000360762;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575882	41575890	22:g.41575883_41575890del	ClinGen:CA10653591	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.922_942delinsC	2033	EP300	Uncertain significance	rs1555912616	RCV000271755;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575882	41575902	22:g.41575883_41575902del	ClinGen:CA10653594	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*926AC[23]	2033	EP300	Uncertain significance	rs59721178	RCV000278768;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575884	41575885	NC_000022.10:g.41575886AC[23]	ClinGen:CA10645628	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*926AC[22]	2033	EP300	Uncertain significance	rs59721178	RCV000373228;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575884	41575885	NC_000022.10:g.41575886AC[22]	ClinGen:CA10653598	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*926AC[20]	2033	EP300	Uncertain significance	rs59721178	RCV000337034;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575885	41575886	NC_000022.10:g.41575886AC[20]	ClinGen:CA10645629	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.*926AC[18]	2033	EP300	Uncertain significance	rs59721178	RCV000395952;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41575885	41575890	22:g.41575885_41575890del	ClinGen:CA10654168	C0035934 180849 Rubinstein-Taybi syndrome;
NM_001429.4(EP300):c.1083_1085del	2033	EP300	Likely benign	rs561433394	RCV000367957;	N	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849, Orphanet:353277, Orphanet:783	22	41576041	41576043	NC_000022.10:g.41576043_41576045del	ClinGen:CA10654169	C0035934 180849 Rubinstein-Taybi syndrome;

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