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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

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)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..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)
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
..Aughton syndrome (C538269)
..Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation (C565923)
..Baraitser Rodeck Garner syndrome (C537906)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Behr syndrome (C537669)
..Bellini Chiumello Rimoldi syndrome (C535652)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..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)
..Boudhina Yedes Khiari syndrome (C537939)
..BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (OMIM:600430)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..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)
..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, Uveal, with Cleft Lip and Palate and Mental Retardation (C565173)
..Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome (C566623)
..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, 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)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..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)
..Gurrieri Sammito Bellussi syndrome (C537625)
..Hair defect with photosensitivity and mental retardation (C537628)
..Hall Riggs mental retardation syndrome (C535623)
..Harrod Doman Keele syndrome (C535635)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Histidinemia (C538320)
..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)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Hypotonia-Cystinuria Syndrome (C564710)
..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)
..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)
..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)
..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)
..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)
..Mental and Growth Retardation with Amblyopia (C563591)
..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 20 (OMIM:613443)
..Mental Retardation, Autosomal Dominant 3 (C567241)
..Mental Retardation, Autosomal Dominant 4 (C567240)
..Mental Retardation, Autosomal Dominant 5 (C567234)
..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 16 (OMIM:614208)
..Mental Retardation, Autosomal Recessive 2 (C564404)
..Mental Retardation, Autosomal Recessive 3 (C563929)
..Mental Retardation, Autosomal Recessive 4 (C567008)
..Mental Retardation, Autosomal Recessive 5 (C567018)
..Mental Retardation, Autosomal Recessive 6 (C567017)
..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
..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, 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)
..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-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..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)
..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)
..Oliver Syndrome (C564931)
..Oliver-McFarlane syndrome (C536554)
..Onychotrichodysplasia and neutropenia (C537752)
..Ophthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..Opitz trigonocephaly syndrome (C537418)
..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)
..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)
..Tamari Goodman syndrome (C536896)
..Temple-Baraitser Syndrome (C567516)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tetrasomy X (C536502)
..Tonoki syndrome (C536967)
..Trichodental syndrome (C536551)
..TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..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)
..Williams Syndrome (D018980) 1
..Winship Viljoen Leary syndrome (C536711)
..Woodhouse Sakati syndrome (C536742)
..Worster Drought syndrome (C536747)
..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)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9916

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:

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 |C10.597.606.643.700 |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;

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
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
12	HP:0001631	Atrial septal defect
13	HP:0000717	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
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
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:0006297	Enamel hypoplasia
41	HP:0000286	Epicanthus
42	HP:0000273	Facial grimacing
43	HP:0001508	Failure to thrive
44	HP:0008872	Feeding difficulties in infancy
45	HP:0002869	Flared iliac wing
46	HP:0001371	Flexion contracture
47	HP:0002007	Frontal bossing
48	HP:0002236	Frontal upsweep of hair
49	HP:0001290	Generalized hypotonia
50	HP:0000501	Glaucoma
51	HP:0000365	Hearing impairment
52	HP:0001425	Heterogeneous
53	HP:0001042	High axial triradius
54	HP:0000218	High palate
55	HP:0002553	Highly arched eyebrow
56	HP:0001007	Hirsutism
57	HP:0000752	Hyperactivity
58	HP:0001347	Hyperreflexia
59	HP:0000327	Hypoplasia of the maxilla
60	HP:0002866	Hypoplastic iliac wing
61	HP:0000047	Hypospadias
62	HP:0001252	Hypotonia
63	HP:0100710	Impulsivity
64	HP:0001249	Intellectual disability
65	HP:0001382	Joint hypermobility
66	HP:0001388	Joint laxity
67	HP:0010562	Keloids
68	HP:0002700	Large foramen magnum
69	HP:0001601	Laryngomalacia
70	HP:0000527	Long eyelashes
71	HP:0000294	Low anterior hairline
72	HP:0009765	Low hanging columella
73	HP:0002162	Low posterior hairline
74	HP:0000369	Low-set ears
75	HP:0000252	Microcephaly
76	HP:0000347	Micrognathia
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
97	HP:0005895	Radial deviation of thumb terminal phalanx
98	HP:0002788	Recurrent upper respiratory tract infections
99	HP:0002098	Respiratory distress
100	HP:0000278	Retrognathia
101	HP:0002650	Scoliosis
102	HP:0001250	Seizure
103	HP:0000742	Self-mutilation
104	HP:0000049	Shawl scrotum
105	HP:0000736	Short attention span
106	HP:0004322	Short stature
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
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_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004380.2(CREBBP):c.6449C>T (p.Pro2150Leu)	1387	CREBBP	Uncertain significance	587783512	RCV000145778;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3778599	3778599	NM_004380.2:c.6449C>T	NP_004371.2:p.Pro2150Leu	NC_000016.9:g.3778599G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.6395_6417dup23 (p.Gln2140Alafs)	1387	CREBBP	Pathogenic	797045500	RCV000192313;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3778631	3778653	NM_004380.2:c.6395_6417dup23	NP_004371.2:p.Gln2140Alafs	NC_000016.9:g.3778631_3778653dup23	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.6130_6171del42 (p.Ala2044_Gln2057del)	1387	CREBBP	Likely pathogenic	587783511	RCV000145777;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3778877	3778918	NM_004380.2:c.6130_6171del42	NP_004371.2:p.Ala2044_Gln2057del	NC_000016.9:g.3778877_3778918del42	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.6107_6116delCCAGGCCTGT (p.Pro2036Argfs)	1387	CREBBP	Pathogenic	797045499	RCV000194469;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3778932	3778941	NM_004380.2:c.6107_6116delCCAGGCCTGT	NP_004371.2:p.Pro2036Argfs	NC_000016.9:g.3778932_3778941delACAGGCCTGG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.6088C>T (p.Gln2030Ter)	1387	CREBBP	Pathogenic	587783510	RCV000145775;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3778960	3778960	NM_004380.2:c.6088C>T	NP_004371.2:p.Gln2030Ter	NC_000016.9:g.3778960G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5936_5937insT (p.Ser1980Glnfs)	1387	CREBBP	Pathogenic	797045498	RCV000193252;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779111	3779112	NM_004380.2:c.5936_5937insT	NP_004371.2:p.Ser1980Glnfs	NC_000016.9:g.3779111_3779112insA	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5869delG (p.Glu1957Lysfs)	1387	CREBBP	Pathogenic	587783508	RCV000145773;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779179	3779179	NM_004380.2:c.5869delG	NP_004371.2:p.Glu1957Lysfs	NC_000016.9:g.3779179delC	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5834_5844delCCCCACCCCCG (p.Pro1945Argfs)	1387	CREBBP	Pathogenic	587783506	RCV000145771;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779204	3779214	NM_004380.2:c.5834_5844delCCCCACCCCCG	NP_004371.2:p.Pro1945Argfs	NC_000016.9:g.3779204_3779214delCGGGGGTGGGG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5837delC (p.Pro1946Hisfs)	1387	CREBBP	Pathogenic	587783507	RCV000145772;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779211	3779211	NM_004380.2:c.5837delC	NP_004371.2:p.Pro1946Hisfs	NC_000016.9:g.3779211delG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5837dupC (p.Pro1947Thrfs)	1387	CREBBP	Pathogenic	797045497	RCV000195029;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779211	3779211	NM_004380.2:c.5837dupC	NP_004371.2:p.Pro1947Thrfs	NC_000016.9:g.3779211dupG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5821C>T (p.Gln1941Ter)	1387	CREBBP	Pathogenic	587783505	RCV000145769;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779227	3779227	NM_004380.2:c.5821C>T	NP_004371.2:p.Gln1941Ter	NC_000016.9:g.3779227G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5800T>C (p.Ser1934Pro)	1387	CREBBP	Uncertain significance	587783504	RCV000145768; RCV000177560;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004; MedGen:CN221809	16	3779248	3779248	NM_004380.2:c.5800T>C	NP_004371.2:p.Ser1934Pro	NC_000016.9:g.3779248A>G	-	CN221809 not provided; C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr)	1387	CREBBP	Benign;Uncertain significance	199990883	RCV000145767; RCV000081061;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004; MedGen:CN169374	16	3779329	3779329	NM_004380.2:c.5719G>A	NP_004371.2:p.Ala1907Thr	NC_000016.9:g.3779329C>T	HGMD:CM131081	CN169374 not specified; C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5614A>G (p.Met1872Val)	1387	CREBBP	Likely pathogenic	797045037	RCV000191076;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779434	3779434	NM_004380.2:c.5614A>G	NP_004371.2:p.Met1872Val	NC_000016.9:g.3779434T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5412C>A (p.His1804Gln)	1387	CREBBP	Likely pathogenic	797045496	RCV000194204;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779636	3779636	NM_004380.2:c.5412C>A	NP_004371.2:p.His1804Gln	NC_000016.9:g.3779636G>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5237G>T (p.Gly1746Val)	1387	CREBBP	Uncertain significance	869312714	RCV000209852;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3779811	3779811	NM_004380.2:c.5237G>T	NP_004371.2:p.Gly1746Val	NC_000016.9:g.3779811C>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5050T>C (p.Ser1684Pro)	1387	CREBBP	Likely pathogenic	587783503	RCV000145765;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3781315	3781315	NM_004380.2:c.5050T>C	NP_004371.2:p.Ser1684Pro	NC_000016.9:g.3781315A>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5039_5041delCCT (p.Ser1680del)	1387	CREBBP	Uncertain significance	587783502	RCV000145764;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3781324	3781326	NM_004380.2:c.5039_5041delCCT	NP_004371.2:p.Ser1680del	NC_000016.9:g.3781324_3781326delAGG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.5027G>A (p.Trp1676Ter)	1387	CREBBP	Pathogenic	797045495	RCV000193359;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3781338	3781338	NM_004380.2:c.5027G>A	NP_004371.2:p.Trp1676Ter	NC_000016.9:g.3781338C>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4894T>C (p.Phe1632Leu)	1387	CREBBP	Uncertain significance	587783501	RCV000145763;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3781471	3781471	NM_004380.2:c.4894T>C	NP_004371.2:p.Phe1632Leu	NC_000016.9:g.3781471A>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4792delA (p.Ser1598Alafs)	1387	CREBBP	Pathogenic	587783500	RCV000145762;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3781875	3781875	NM_004380.2:c.4792delA	NP_004371.2:p.Ser1598Alafs	NC_000016.9:g.3781875delT	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4689delG (p.Lys1565Argfs)	1387	CREBBP	Pathogenic	587783499	RCV000145760;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3786076	3786076	NM_004380.2:c.4689delG	NP_004371.2:p.Lys1565Argfs	NC_000016.9:g.3786076delC	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4508A>G (p.Tyr1503Cys)	1387	CREBBP	Pathogenic	587783497	RCV000145757;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3786703	3786703	NM_004380.2:c.4508A>G	NP_004371.2:p.Tyr1503Cys	NC_000016.9:g.3786703T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4445A>G (p.Tyr1482Cys)	1387	CREBBP	Likely pathogenic	587783496	RCV000145756;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3786766	3786766	NM_004380.2:c.4445A>G	NP_004371.2:p.Tyr1482Cys	NC_000016.9:g.3786766T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4444T>G (p.Tyr1482Asp)	1387	CREBBP	Pathogenic	587783495	RCV000145755;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3786767	3786767	NM_004380.2:c.4444T>G	NP_004371.2:p.Tyr1482Asp	NC_000016.9:g.3786767A>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4398T>A (p.Tyr1466Ter)	1387	CREBBP	Pathogenic	147688139	RCV000145754;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3786813	3786813	NM_004380.2:c.4398T>A	NP_004371.2:p.Tyr1466Ter	NC_000016.9:g.3786813A>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4376A>G (p.Glu1459Gly)	1387	CREBBP	Likely pathogenic	587783494	RCV000145753;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3788578	3788578	NM_004380.2:c.4376A>G	NP_004371.2:p.Glu1459Gly	NC_000016.9:g.3788578T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4281G>T (p.Arg1427Ser)	1387	CREBBP	Likely pathogenic	797045494	RCV000195137;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3788673	3788673	NM_004380.2:c.4281G>T	NP_004371.2:p.Arg1427Ser	NC_000016.9:g.3788673C>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4281-11C>G	1387	CREBBP	Likely pathogenic	587783493	RCV000145752;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3788684	3788684	NM_004380.2:c.4281-11C>G		NC_000016.9:g.3788684G>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4226T>C (p.Phe1409Ser)	1387	CREBBP	Likely pathogenic	587783492	RCV000145750;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3789633	3789633	NM_004380.2:c.4226T>C	NP_004371.2:p.Phe1409Ser	NC_000016.9:g.3789633A>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4133+1G>A	1387	CREBBP	Pathogenic	587783491	RCV000145749;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790399	3790399	NM_004380.2:c.4133+1G>A		NC_000016.9:g.3790399C>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4133G>C (p.Arg1378Pro)	1387	CREBBP	Pathogenic	121434626	RCV000010037;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790400	3790400	NM_004380.2:c.4133G>C	NP_004371.2:p.Arg1378Pro	NC_000016.9:g.3790400C>G	OMIM Allelic Variant:600140.0003	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4078C>T (p.Arg1360Ter)	1387	CREBBP	Pathogenic	587783490	RCV000145748;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790455	3790455	NM_004380.2:c.4078C>T	NP_004371.2:p.Arg1360Ter	NC_000016.9:g.3790455G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4045C>T (p.Gln1349Ter)	1387	CREBBP	Pathogenic	587783489	RCV000145747;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790488	3790488	NM_004380.2:c.4045C>T	NP_004371.2:p.Gln1349Ter	NC_000016.9:g.3790488G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.4022G>C (p.Arg1341Pro)	1387	CREBBP	Likely pathogenic	587783488	RCV000145746;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790511	3790511	NM_004380.2:c.4022G>C	NP_004371.2:p.Arg1341Pro	NC_000016.9:g.3790511C>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3993delC (p.Thr1332Glnfs)	1387	CREBBP	Pathogenic	794727391	RCV000176482;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790540	3790540	NM_004380.2:c.3993delC	NP_004371.2:p.Thr1332Glnfs	NC_000016.9:g.3790540delG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3989A>G (p.Gln1330Arg)	1387	CREBBP	Uncertain significance	587783487	RCV000145745;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790544	3790544	NM_004380.2:c.3989A>G	NP_004371.2:p.Gln1330Arg	NC_000016.9:g.3790544T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3983-2A>G	1387	CREBBP	Pathogenic	587783486	RCV000145744;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3790552	3790552	NM_004380.2:c.3983-2A>G		NC_000016.9:g.3790552T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3914+3G>T	1387	CREBBP	Likely pathogenic	587783485	RCV000145743;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3795275	3795275	NM_004380.2:c.3914+3G>T		NC_000016.9:g.3795275C>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3836+1G>A	1387	CREBBP	Pathogenic	200782888	RCV000145741;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3799627	3799627	NM_004380.2:c.3836+1G>A		NC_000016.9:g.3799627C>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3832G>A (p.Glu1278Lys)	1387	CREBBP	Pathogenic	267606752	RCV000010040;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3799632	3799632	NM_004380.2:c.3832G>A	NP_004371.2:p.Glu1278Lys	NC_000016.9:g.3799632C>T	OMIM Allelic Variant:600140.0006	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3779+1G>A	1387	CREBBP	Pathogenic	587783483	RCV000145739;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3801726	3801726	NM_004380.2:c.3779+1G>A		NC_000016.9:g.3801726C>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3613G>T (p.Glu1205Ter)	1387	CREBBP	Pathogenic	587783482	RCV000145738;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3807374	3807374	NM_004380.2:c.3613G>T	NP_004371.2:p.Glu1205Ter	NC_000016.9:g.3807374C>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3524A>G (p.Tyr1175Cys)	1387	CREBBP	Pathogenic	28937315	RCV000010039;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3807895	3807895	NM_004380.2:c.3524A>G	NP_004371.2:p.Tyr1175Cys	NC_000016.9:g.3807895T>C	OMIM Allelic Variant:600140.0005	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys)	1387	CREBBP	Likely pathogenic	587783481	RCV000145737;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3807919	3807919	NM_004380.2:c.3500A>G	NP_004371.2:p.Tyr1167Cys	NC_000016.9:g.3807919T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3490G>C (p.Ala1164Pro)	1387	CREBBP	Likely pathogenic	797045492	RCV000192723;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3807929	3807929	NM_004380.2:c.3490G>C	NP_004371.2:p.Ala1164Pro	NC_000016.9:g.3807929C>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3461dupT (p.Asp1155Glyfs)	1387	CREBBP	Pathogenic	797045490	RCV000194047;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3807958	3807958	NM_004380.2:c.3461dupT	NP_004371.2:p.Asp1155Glyfs	NC_000016.9:g.3807958dupA	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3436C>T (p.Gln1146Ter)	1387	CREBBP	Pathogenic	797045489	RCV000192840;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3807983	3807983	NM_004380.2:c.3436C>T	NP_004371.2:p.Gln1146Ter	NC_000016.9:g.3807983G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3369+1G>T	1387	CREBBP	Pathogenic	587783480	RCV000145736;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3808854	3808854	NM_004380.2:c.3369+1G>T		NC_000016.9:g.3808854C>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3310C>T (p.Gln1104Ter)	1387	CREBBP	Pathogenic	587783479	RCV000145735;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3808914	3808914	NM_004380.2:c.3310C>T	NP_004371.2:p.Gln1104Ter	NC_000016.9:g.3808914G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.3077_3085delTGCAAGGAGinsAA (p.Leu1026Terfs)	1387	CREBBP	Pathogenic	797045488	RCV000194630;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3817886	3817894	NM_004380.2:c.3077_3085delTGCAAGGAGinsAA	NP_004371.2:p.Leu1026Terfs	NC_000016.9:g.3817886_3817894delCTCCTTGCAinsTT	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2811G>A (p.Pro937=)	1387	CREBBP	Uncertain significance	146168040	RCV000145731; RCV000081041;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004; MedGen:CN221809	16	3820640	3820640	NM_004380.2:c.2811G>A	NP_004371.2:p.Pro937=	NC_000016.9:g.3820640C>T	-	CN221809 not provided; C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2810dupC (p.Ser938Valfs)	1387	CREBBP	Pathogenic	797045485	RCV000194548;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820641	3820641	NM_004380.2:c.2810dupC	NP_004371.2:p.Ser938Valfs	NC_000016.9:g.3820641dupG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2791C>T (p.Gln931Ter)	1387	CREBBP	Pathogenic	587783475	RCV000145730;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820660	3820660	NM_004380.2:c.2791C>T	NP_004371.2:p.Gln931Ter	NC_000016.9:g.3820660G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala)	1387	CREBBP	Benign;Likely benign;Pathogenic	143247685	RCV000022942; RCV000145728;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004; MedGen:CN169374	16	3820723	3820723	NM_004380.2:c.2728A>G	NP_004371.2:p.Thr910Ala	NC_000016.9:g.3820723T>A,NC_000016.9:g.3820723T>C	OMIM Allelic Variant:600140.0008	CN169374 not specified; C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2679_2690delGTCTTCCGGGCAinsCC (p.Ser894Argfs)	1387	CREBBP	Pathogenic	797045484	RCV000193709;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820761	3820772	NM_004380.2:c.2679_2690delGTCTTCCGGGCAinsCC	NP_004371.2:p.Ser894Argfs	NC_000016.9:g.3820761_3820772delTGCCCGGAAGACinsGG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2685delC (p.Gln897Argfs)	1387	CREBBP	Pathogenic	794727124	RCV000174746;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820766	3820766	NM_004380.2:c.2685delC	NP_004371.2:p.Gln897Argfs	NC_000016.9:g.3820766delG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2679G>A (p.Ser893=)	1387	CREBBP	Uncertain significance	587783474	RCV000145727;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820772	3820772	NM_004380.2:c.2679G>A	NP_004371.2:p.Ser893=	NC_000016.9:g.3820772C>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2606_2607delTC (p.Leu869Profs)	1387	CREBBP	Pathogenic	587783473	RCV000145726;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820844	3820845	NM_004380.2:c.2606_2607delTC	NP_004371.2:p.Leu869Profs	NC_000016.9:g.3820844_3820845delGA	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2606T>C (p.Leu869Pro)	1387	CREBBP	Uncertain significance	587783472	RCV000145725;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820845	3820845	NM_004380.2:c.2606T>C	NP_004371.2:p.Leu869Pro	NC_000016.9:g.3820845A>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2535C>A (p.Cys845Ter)	1387	CREBBP	Pathogenic	587783471	RCV000145724;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3820916	3820916	NM_004380.2:c.2535C>A	NP_004371.2:p.Cys845Ter	NC_000016.9:g.3820916G>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2178dupC (p.Met727Hisfs)	1387	CREBBP	Pathogenic	797045483	RCV000192496;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3824675	3824675	NM_004380.2:c.2178dupC	NP_004371.2:p.Met727Hisfs	NC_000016.9:g.3824675dupG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2122_2123delCT (p.Leu708Valfs)	1387	CREBBP	Pathogenic	587783470	RCV000145723;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3827649	3827650	NM_004380.2:c.2122_2123delCT	NP_004371.2:p.Leu708Valfs	NC_000016.9:g.3827649_3827650delAG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2026delC (p.Gln676Lysfs)	1387	CREBBP	Pathogenic	587783469	RCV000145722;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3828099	3828099	NM_004380.2:c.2026delC	NP_004371.2:p.Gln676Lysfs	NC_000016.9:g.3828099delG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1955A>C (p.His652Pro)	1387	CREBBP	Uncertain significance	587783468	RCV000145721;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3828170	3828170	NM_004380.2:c.1955A>C	NP_004371.2:p.His652Pro	NC_000016.9:g.3828170T>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1821delA (p.Lys607Asnfs)	1387	CREBBP	Pathogenic	587783467	RCV000145719;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3830735	3830735	NM_004380.2:c.1821delA	NP_004371.2:p.Lys607Asnfs	NC_000016.9:g.3830735delT	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1590delC (p.Asn530Lysfs)	1387	CREBBP	Pathogenic	587783465	RCV000145717;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3831291	3831291	NM_004380.2:c.1590delC	NP_004371.2:p.Asn530Lysfs	NC_000016.9:g.3831291delG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1270C>T (p.Arg424Ter)	1387	CREBBP	Pathogenic	587783464	RCV000145716;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3842042	3842042	NM_004380.2:c.1270C>T	NP_004371.2:p.Arg424Ter	NC_000016.9:g.3842042G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1257G>A (p.Trp419Ter)	1387	CREBBP	Pathogenic	587783463	RCV000145715;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3842055	3842055	NM_004380.2:c.1257G>A	NP_004371.2:p.Trp419Ter	NC_000016.9:g.3842055C>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1156C>T (p.Arg386Ter)	1387	CREBBP	Pathogenic	587783461	RCV000145713;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3843447	3843447	NM_004380.2:c.1156C>T	NP_004371.2:p.Arg386Ter	NC_000016.9:g.3843447G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1149G>A (p.Pro383=)	1387	CREBBP	Benign;Uncertain significance	61759495	RCV000145712; RCV000081028;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004; MedGen:CN169374	16	3843454	3843454	NM_004380.2:c.1149G>A	NP_004371.2:p.Pro383=	NC_000016.9:g.3843454C>T	-	CN169374 not specified; C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1069C>T (p.Gln357Ter)	1387	CREBBP	Pathogenic	121434625	RCV000010036;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3843534	3843534	NM_004380.2:c.1069C>T	NP_004371.2:p.Gln357Ter	NC_000016.9:g.3843534G>A	OMIM Allelic Variant:600140.0002	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.1063C>T (p.Gln355Ter)	1387	CREBBP	Pathogenic	587783460	RCV000145711;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3843540	3843540	NM_004380.2:c.1063C>T	NP_004371.2:p.Gln355Ter	NC_000016.9:g.3843540G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.953C>A (p.Ser318Ter)	1387	CREBBP	Pathogenic	587783516	RCV000145784;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3860626	3860626	NM_004380.2:c.953C>A	NP_004371.2:p.Ser318Ter	NC_000016.9:g.3860626G>T	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.827_828dupTT (p.Gly277Leufs)	1387	CREBBP	Pathogenic	797045502	RCV000192380;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3860751	3860752	NM_004380.2:c.827_828dupTT	NP_004371.2:p.Gly277Leufs	NC_000016.9:g.3860751_3860752dupAA	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.598C>T (p.Gln200Ter)	1387	CREBBP	Pathogenic	587783509	RCV000145774;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900498	3900498	NM_004380.2:c.598C>T	NP_004371.2:p.Gln200Ter	NC_000016.9:g.3900498G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.406C>T (p.Gln136Ter)	1387	CREBBP	Pathogenic	121434624	RCV000010035;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900690	3900690	NM_004380.2:c.406C>T	NP_004371.2:p.Gln136Ter	NC_000016.9:g.3900690G>A	OMIM Allelic Variant:600140.0001	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.348_349dupTG (p.Ala117Valfs)	1387	CREBBP	Pathogenic	797045491	RCV000195252;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900747	3900748	NM_004380.2:c.348_349dupTG	NP_004371.2:p.Ala117Valfs	NC_000016.9:g.3900747_3900748dupCA	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.316C>T (p.Gln106Ter)	1387	CREBBP	Pathogenic	587783478	RCV000145734;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900780	3900780	NM_004380.2:c.316C>T	NP_004371.2:p.Gln106Ter	NC_000016.9:g.3900780G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.299delG (p.Gly100Valfs)	1387	CREBBP	Pathogenic	587783477	RCV000145733;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900797	3900797	NM_004380.2:c.299delG	NP_004371.2:p.Gly100Valfs	NC_000016.9:g.3900797delC	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.286C>T (p.Gln96Ter)	1387	CREBBP	Pathogenic	587783476	RCV000145732;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900810	3900810	NM_004380.2:c.286C>T	NP_004371.2:p.Gln96Ter	NC_000016.9:g.3900810G>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.282dupC (p.Val95Argfs)	1387	CREBBP	Pathogenic	797045486	RCV000192951;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900814	3900814	NM_004380.2:c.282dupC	NP_004371.2:p.Val95Argfs	NC_000016.9:g.3900814dupG	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.164A>G (p.Asn55Ser)	1387	CREBBP	Uncertain significance	587783466	RCV000145718;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3900932	3900932	NM_004380.2:c.164A>G	NP_004371.2:p.Asn55Ser	NC_000016.9:g.3900932T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.86-1G>T	1387	CREBBP	Pathogenic	11644721	RCV000193581;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3901011	3901011	NM_004380.2:c.86-1G>T		NC_000016.9:g.3901011C>A	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.86-2A>C	1387	CREBBP	Pathogenic	587783515	RCV000145783;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3901012	3901012	NM_004380.2:c.86-2A>C		NC_000016.9:g.3901012T>G	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.(?_-23)_85+?del	1387	CREBBP	Pathogenic	-1	RCV000192615;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3929833	3929940	NM_004380.2:c.(?_-23)_85+?del			-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.37A>G (p.Lys13Glu)	1387	CREBBP	Likely pathogenic	587783484	RCV000145740;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3929881	3929881	NM_004380.2:c.37A>G	NP_004371.2:p.Lys13Glu	NC_000016.9:g.3929881T>C	-	C0035934 180849 Rubinstein-Taybi syndrome
NM_004380.2(CREBBP):c.2T>A (p.Met1Lys)	1387	CREBBP	Pathogenic	797045487	RCV000193780;	N	MedGen:C0035934,OMIM:180849,ORPHA:783,SNOMED CT:45582004	16	3929916	3929916	NM_004380.2:c.2T>A	NP_004371.2:p.Met1Lys	NC_000016.9:g.3929916A>T	-	C0035934 180849 Rubinstein-Taybi syndrome