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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: Intellectual Disability (D008607)
..Starting node ..De Lange Syndrome (D003635)
Child Nodes:
........Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay (C566206)
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:

3151

Name:

De Lange Syndrome

Definition:

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)

Alternative IDs:

OMIM:122470|OMIM:300590|OMIM:610759

ParentIDs:

MESH:D000015|MESH:D008607|MESH:D025063

TreeNumbers:

C10.597.606.643.210 |C16.131.077.272 |C16.131.260.210 |C16.320.180.210

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D003635
MeSH: D003635
OMIM: 122470;

Genes: NIPBL; SMC1A; SMC3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0001551	Abnormal umbilicus morphology
4	HP:0000463	Anteverted nares
5	HP:0000483	Astigmatism
6	HP:0000708	Behavioral abnormality
7	HP:0000248	Brachycephaly
8	HP:0000453	Choanal atresia
9	HP:0000175	Cleft palate
10	HP:0000204	Cleft upper lip
11	HP:0004209	Clinodactyly of the 5th finger
12	HP:0000405	Conductive hearing impairment
13	HP:0000776	Congenital diaphragmatic hernia
14	HP:0000028	Cryptorchidism
15	HP:0007665	Curly eyelashes
16	HP:0000965	Cutis marmorata
17	HP:0000684	Delayed eruption of teeth
18	HP:0002750	Delayed skeletal maturation
19	HP:0000750	Delayed speech and language development
20	HP:0005280	Depressed nasal bridge
21	HP:0003083	Dislocated radial head
22	HP:0002714	Downturned corners of mouth
23	HP:0005217	Duplication of internal organs
24	HP:0000086	Ectopic kidney
25	HP:0002987	Elbow flexion contracture
26	HP:0002020	Gastroesophageal reflux
27	HP:0001180	Hand oligodactyly
28	HP:0002036	Hiatus hernia
29	HP:0000218	High palate
30	HP:0002705	High, narrow palate
31	HP:0002553	Highly arched eyebrow
32	HP:0001007	Hirsutism
33	HP:0001276	Hypertonia
34	HP:0002984	Hypoplasia of the radius
35	HP:0000059	Hypoplastic labia majora
36	HP:0000050	Hypoplastic male external genitalia
37	HP:0002557	Hypoplastic nipples
38	HP:0003997	Hypoplastic radial head
39	HP:0000047	Hypospadias
40	HP:0000023	Inguinal hernia
41	HP:0001249	Intellectual disability
42	HP:0001511	Intrauterine growth retardation
43	HP:0001377	Limited elbow extension
44	HP:0000527	Long eyelashes
45	HP:0000343	Long philtrum
46	HP:0002162	Low posterior hairline
47	HP:0000369	Low-set ears
48	HP:0004785	Malrotation of colon
49	HP:0000252	Microcephaly
50	HP:0000482	Microcornea
51	HP:0000347	Micrognathia
52	HP:0002983	Micromelia
53	HP:0000545	Myopia
54	HP:0000639	Nystagmus
55	HP:0000648	Optic atrophy
56	HP:0000588	Optic disc coloboma
57	HP:0003812	Phenotypic variability
58	HP:0009829	Phocomelia
59	HP:0002090	Pneumonia
60	HP:0000520	Proptosis
61	HP:0000093	Proteinuria	HP:0040283
62	HP:0009623	Proximal placement of thumb
63	HP:0000508	Ptosis
64	HP:0002021	Pyloric stenosis
65	HP:0005565	Reduced renal corticomedullary differentiation
66	HP:0000107	Renal cyst	HP:0040283
67	HP:0000089	Renal hypoplasia	HP:0040283
68	HP:0001250	Seizure
69	HP:0100716	Self-injurious behavior
70	HP:0000407	Sensorineural hearing impairment
71	HP:0000470	Short neck
72	HP:0004322	Short stature
73	HP:0000879	Short sternum
74	HP:0000954	Single transverse palmar crease
75	HP:0003745	Sporadic
76	HP:0000486	Strabismus
77	HP:0005815	Supernumerary ribs
78	HP:0000664	Synophrys
79	HP:0000219	Thin upper lip vermilion
80	HP:0001873	Thrombocytopenia
81	HP:0001629	Ventricular septal defect
82	HP:0000076	Vesicoureteral reflux	HP:0040283
83	HP:0001612	Weak cry
84	HP:0000687	Widely spaced teeth

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_005933.3(KMT2A):c.2233C>T (p.Arg745Ter)	4297	KMT2A	Pathogenic	727503777	RCV000157053;	N	MedGen:CN029798,OMIM:122470	11	118344107	118344107	NM_005933.3:c.2233C>T	NP_005924.2:p.Arg745Ter	NC_000011.9:g.118344107C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.-321_-320delCCinsA	25836	NIPBL	Pathogenic	724159980	RCV000002233;	N	MedGen:CN029798,OMIM:122470	5	36877039	36877040	NM_015384.4:c.-321_-320delCCinsA		NC_000005.9:g.36877039_36877040delCCinsA	OMIM Allelic Variant:608667.0013	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2T>A (p.Met1Lys)	25836	NIPBL	Pathogenic	121918264	RCV000002221;	N	MedGen:CN029798,OMIM:122470	5	36953800	36953800	NM_015384.4:c.2T>A	NP_056199.2:p.Met1Lys	NC_000005.9:g.36953800T>A	OMIM Allelic Variant:608667.0001	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3G>T (p.Met1Ile)	25836	NIPBL	Pathogenic	587783937	RCV000146596;	N	MedGen:CN029798,OMIM:122470	5	36953801	36953801	NM_133433.3:c.3G>T	NP_597677.2:p.Met1Ile	NC_000005.9:g.36953801G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.64+1G>A	25836	NIPBL	Pathogenic	587784009	RCV000146685;	N	MedGen:CN029798,OMIM:122470	5	36953863	36953863	NM_133433.3:c.64+1G>A		NC_000005.9:g.36953863G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.64+3A>C	25836	NIPBL	Pathogenic	587784010	RCV000146686;	N	MedGen:CN029798,OMIM:122470	5	36953865	36953865	NM_133433.3:c.64+3A>C		NC_000005.9:g.36953865A>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.64+5G>A	25836	NIPBL	Likely pathogenic	587784011	RCV000146687;	N	MedGen:CN029798,OMIM:122470	5	36953867	36953867	NM_133433.3:c.64+5G>A		NC_000005.9:g.36953867G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.65-5A>G	25836	NIPBL	Likely pathogenic	587784012	RCV000146690;	N	MedGen:CN029798,OMIM:122470	5	36955569	36955569	NM_133433.3:c.65-5A>G		NC_000005.9:g.36955569A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.65-3T>G	25836	NIPBL	Pathogenic	727503768	RCV000157044;	N	MedGen:CN029798,OMIM:122470	5	36955571	36955571	NM_015384.4:c.65-3T>G		NC_000005.9:g.36955571T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.86delC (p.Pro29Hisfs)	25836	NIPBL	Pathogenic	587784060	RCV000146746;	N	MedGen:CN029798,OMIM:122470	5	36955595	36955595	NM_015384.4:c.86delC	NP_056199.2:p.Pro29Hisfs	NC_000005.9:g.36955595delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.133C>T (p.Arg45Ter)	25836	NIPBL	Pathogenic	80358367	RCV000086366;	N	MedGen:CN029798,OMIM:122470	5	36955642	36955642	NM_015384.4:c.133C>T	NP_056199.2:p.Arg45Ter	NC_000005.9:g.36955642C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.145G>T (p.Glu49Ter)	25836	NIPBL	Pathogenic	587783886	RCV000146520;	N	MedGen:CN029798,OMIM:122470	5	36955654	36955654	NM_133433.3:c.145G>T	NP_597677.2:p.Glu49Ter	NC_000005.9:g.36955654G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.192delG (p.Gln64Hisfs)	25836	NIPBL	Pathogenic	80358364	RCV000086369;	N	MedGen:CN029798,OMIM:122470	5	36955701	36955701	NM_015384.4:c.192delG	NP_056199.2:p.Gln64Hisfs	NC_000005.9:g.36955701delG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.201_212delTAGCCTCAACCA (p.His67_Asn70del)	25836	NIPBL	Likely pathogenic	587783893	RCV000146531;	N	MedGen:CN029798,OMIM:122470	5	36955710	36955721	NM_015384.4:c.201_212delTAGCCTCAACCA	NP_056199.2:p.His67_Asn70del	NC_000005.9:g.36955710_36955721delTAGCCTCAACCA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.206T>C (p.Leu69Pro)	25836	NIPBL	Likely pathogenic	587783895	RCV000146534;	N	MedGen:CN029798,OMIM:122470	5	36955715	36955715	NM_133433.3:c.206T>C	NP_597677.2:p.Leu69Pro	NC_000005.9:g.36955715T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.212_213dupAG (p.Val72Argfs)	25836	NIPBL	Pathogenic	797045749	RCV000192596;	N	MedGen:CN029798,OMIM:122470	5	36955721	36955722	NM_015384.4:c.212_213dupAG	NP_056199.2:p.Val72Argfs	NC_000005.9:g.36955721_36955722dupAG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.286_287insG (p.Leu96Cysfs)	25836	NIPBL	Pathogenic	797045753	RCV000194119;	N	MedGen:CN029798,OMIM:122470	5	36958261	36958262	NM_133433.3:c.286_287insG	NP_597677.2:p.Leu96Cysfs	NC_000005.9:g.36958261_36958262insG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.310_317delCCTAATGT (p.Pro104Phefs)	25836	NIPBL	Pathogenic	587783917	RCV000146566;	N	MedGen:CN029798,OMIM:122470	5	36958285	36958292	NM_015384.4:c.310_317delCCTAATGT	NP_056199.2:p.Pro104Phefs	NC_000005.9:g.36958285_36958292delCCTAATGT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.314dupA (p.Asn105Lysfs)	25836	NIPBL	Pathogenic	797045755	RCV000192791;	N	MedGen:CN029798,OMIM:122470	5	36958289	36958289	NM_015384.4:c.314dupA	NP_056199.2:p.Asn105Lysfs	NC_000005.9:g.36958289dupA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.332G>A (p.Ser111Asn)	25836	NIPBL	Uncertain significance	587783920	RCV000146572;	N	MedGen:CN029798,OMIM:122470	5	36958307	36958307	NM_133433.3:c.332G>A	NP_597677.2:p.Ser111Asn	NC_000005.9:g.36958307G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.345A>G (p.Arg115=)	25836	NIPBL	Likely pathogenic	587783922	RCV000146576;	N	MedGen:CN029798,OMIM:122470	5	36958320	36958320	NM_133433.3:c.345A>G	NP_597677.2:p.Arg115=	NC_000005.9:g.36958320A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.358+1G>T	25836	NIPBL	Pathogenic	587783927	RCV000146582;	N	MedGen:CN029798,OMIM:122470	5	36958334	36958334	NM_133433.3:c.358+1G>T		NC_000005.9:g.36958334G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.358+5G>C	25836	NIPBL	Likely pathogenic	587783928	RCV000146583;	N	MedGen:CN029798,OMIM:122470	5	36958338	36958338	NM_133433.3:c.358+5G>C		NC_000005.9:g.36958338G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.456delC (p.Ser153Alafs)	25836	NIPBL	Pathogenic	587783951	RCV000146613;	N	MedGen:CN029798,OMIM:122470	5	36961683	36961683	NM_015384.4:c.456delC	NP_056199.2:p.Ser153Alafs	NC_000005.9:g.36961683delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.458+1_458+2dup	25836	NIPBL	Pathogenic	797045763	RCV000193348;	N	MedGen:CN029798,OMIM:122470	5	36961686	36961687	NM_133433.3:c.458+1_458+2dup		NC_000005.9:g.36961686_36961687dupGT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.585C>G (p.Tyr195Ter)	25836	NIPBL	Pathogenic	80358360	RCV000086385;	N	MedGen:CN029798,OMIM:122470	5	36962351	36962351	NM_015384.4:c.585C>G	NP_056199.2:p.Tyr195Ter	NC_000005.9:g.36962351C>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.598C>T (p.Gln200Ter)	25836	NIPBL	Pathogenic	587783988	RCV000146661;	N	MedGen:CN029798,OMIM:122470	5	36962364	36962364	NM_133433.3:c.598C>T	NP_597677.2:p.Gln200Ter	NC_000005.9:g.36962364C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.610+1G>A	25836	NIPBL	Pathogenic	587783993	RCV000146666;	N	MedGen:CN029798,OMIM:122470	5	36962377	36962377	NM_133433.3:c.610+1G>A		NC_000005.9:g.36962377G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.611-10T>C	25836	NIPBL	Uncertain significance	368836554	RCV000146669;	N	MedGen:CN029798,OMIM:122470	5	36970968	36970968	NM_133433.3:c.611-10T>C		NC_000005.9:g.36970968T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.678G>A (p.Pro226=)	25836	NIPBL	Uncertain significance	192822119	RCV000146703;	N	MedGen:CN029798,OMIM:122470	5	36971045	36971045	NM_133433.3:c.678G>A	NP_597677.2:p.Pro226=	NC_000005.9:g.36971045G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.737A>G (p.Asp246Gly)	25836	NIPBL	Pathogenic	587784042	RCV000146724;	N	MedGen:CN029798,OMIM:122470	5	36971104	36971104	NM_133433.3:c.737A>G	NP_597677.2:p.Asp246Gly	NC_000005.9:g.36971104A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.771+1G>A	25836	NIPBL	Pathogenic	587784048	RCV000146730;	N	MedGen:CN029798,OMIM:122470	5	36971139	36971139	NM_133433.3:c.771+1G>A		NC_000005.9:g.36971139G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.772-1G>A	25836	NIPBL	Pathogenic	587784049	RCV000146731;	N	MedGen:CN029798,OMIM:122470	5	36972046	36972046	NM_133433.3:c.772-1G>A		NC_000005.9:g.36972046G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.869-1G>A	25836	NIPBL	Pathogenic	587784059	RCV000146745;	N	MedGen:CN029798,OMIM:122470	5	36975877	36975877	NM_133433.3:c.869-1G>A		NC_000005.9:g.36975877G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.892C>T (p.Gln298Ter)	25836	NIPBL	Pathogenic	587784062	RCV000146748;	N	MedGen:CN029798,OMIM:122470	5	36975901	36975901	NM_133433.3:c.892C>T	NP_597677.2:p.Gln298Ter	NC_000005.9:g.36975901C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.892delC (p.Gln298Asnfs)	25836	NIPBL	Pathogenic	587784063	RCV000146749;	N	MedGen:CN029798,OMIM:122470	5	36975901	36975901	NM_015384.4:c.892delC	NP_056199.2:p.Gln298Asnfs	NC_000005.9:g.36975901delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.894A>G (p.Gln298=)	25836	NIPBL	Uncertain significance	587784064	RCV000146750;	N	MedGen:CN029798,OMIM:122470	5	36975903	36975903	NM_133433.3:c.894A>G	NP_597677.2:p.Gln298=	NC_000005.9:g.36975903A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.914C>A (p.Ser305Ter)	25836	NIPBL	Pathogenic	727503770	RCV000157046;	N	MedGen:CN029798,OMIM:122470	5	36975923	36975923	NM_015384.4:c.914C>A	NP_056199.2:p.Ser305Ter	NC_000005.9:g.36975923C>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.922C>T (p.Arg308Ter)	25836	NIPBL	Pathogenic	587784065	RCV000146751;	N	MedGen:CN029798,OMIM:122470	5	36975931	36975931	NM_133433.3:c.922C>T	NP_597677.2:p.Arg308Ter	NC_000005.9:g.36975931C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1003delG (p.Glu335Lysfs)	25836	NIPBL	Pathogenic	587783877	RCV000146509;	N	MedGen:CN029798,OMIM:122470	5	36976012	36976012	NM_015384.4:c.1003delG	NP_056199.2:p.Glu335Lysfs	NC_000005.9:g.36976012delG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1033_1036delTATG (p.Tyr345Ilefs)	25836	NIPBL	Pathogenic	587783878	RCV000146510;	N	MedGen:CN029798,OMIM:122470	5	36976042	36976045	NM_015384.4:c.1033_1036delTATG	NP_056199.2:p.Tyr345Ilefs	NC_000005.9:g.36976042_36976045delTATG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1057A>T (p.Lys353Ter)	25836	NIPBL	Pathogenic	587783879	RCV000146512;	N	MedGen:CN029798,OMIM:122470	5	36976066	36976066	NM_133433.3:c.1057A>T	NP_597677.2:p.Lys353Ter	NC_000005.9:g.36976066A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1086_1087delTT (p.Arg364Cysfs)	25836	NIPBL	Pathogenic	587783880	RCV000146513;	N	MedGen:CN029798,OMIM:122470	5	36976095	36976096	NM_015384.4:c.1086_1087delTT	NP_056199.2:p.Arg364Cysfs	NC_000005.9:g.36976095_36976096delTT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1146dupT (p.Ser383Terfs)	25836	NIPBL	Pathogenic	797045745	RCV000192354;	N	MedGen:CN029798,OMIM:122470	5	36976155	36976155	NM_015384.4:c.1146dupT	NP_056199.2:p.Ser383Terfs	NC_000005.9:g.36976155dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1183C>T (p.Gln395Ter)	25836	NIPBL	Pathogenic	587783882	RCV000146516;	N	MedGen:CN029798,OMIM:122470	5	36976192	36976192	NM_133433.3:c.1183C>T	NP_597677.2:p.Gln395Ter	NC_000005.9:g.36976192C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1212C>T (p.Pro404=)	25836	NIPBL	Uncertain significance	80358349	RCV000086365;	N	MedGen:CN029798,OMIM:122470	5	36976221	36976221	NM_015384.4:c.1212C>T	NP_056199.2:p.Pro404=	NC_000005.9:g.36976221C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1297C>T (p.Gln433Ter)	25836	NIPBL	Pathogenic	587783883	RCV000146517;	N	MedGen:CN029798,OMIM:122470	5	36976306	36976306	NM_133433.3:c.1297C>T	NP_597677.2:p.Gln433Ter	NC_000005.9:g.36976306C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1372C>T (p.Gln458Ter)	25836	NIPBL	Pathogenic	587783884	RCV000146518;	N	MedGen:CN029798,OMIM:122470	5	36976381	36976381	NM_133433.3:c.1372C>T	NP_597677.2:p.Gln458Ter	NC_000005.9:g.36976381C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1445_1448delGAGA (p.Arg482Asnfs)	25836	NIPBL	Pathogenic	80358382	RCV000086367;	N	MedGen:CN029798,OMIM:122470	5	36976454	36976457	NM_015384.4:c.1445_1448delGAGA	NP_056199.2:p.Arg482Asnfs	NC_000005.9:g.36976454_36976457delGAGA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1447_1448delGA (p.Glu483Ilefs)	25836	NIPBL	Pathogenic	587783885	RCV000146519;	N	MedGen:CN029798,OMIM:122470	5	36976456	36976457	NM_015384.4:c.1447_1448delGA	NP_056199.2:p.Glu483Ilefs	NC_000005.9:g.36976456_36976457delGA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1448_1449delAAinsCTCCCTT (p.Glu483Alafs)	25836	NIPBL	Pathogenic	797045746	RCV000194449;	N	MedGen:CN029798,OMIM:122470	5	36976457	36976458	NM_015384.4:c.1448_1449delAAinsCTCCCTT	NP_056199.2:p.Glu483Alafs	NC_000005.9:g.36976457_36976458delAAinsCTCCCTT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1477A>G (p.Lys493Glu)	25836	NIPBL	Likely pathogenic	587783887	RCV000146521;	N	MedGen:CN029798,OMIM:122470	5	36976486	36976486	NM_133433.3:c.1477A>G	NP_597677.2:p.Lys493Glu	NC_000005.9:g.36976486A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1496-8A>G	25836	NIPBL	Likely pathogenic	797045747	RCV000193488;	N	MedGen:CN029798,OMIM:122470	5	36984770	36984770	NM_133433.3:c.1496-8A>G		NC_000005.9:g.36984770A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1514_1517delGAAA (p.Arg505Asnfs)	25836	NIPBL	Pathogenic	587783888	RCV000146522;	N	MedGen:CN029798,OMIM:122470	5	36984796	36984799	NM_015384.4:c.1514_1517delGAAA	NP_056199.2:p.Arg505Asnfs	NC_000005.9:g.36984796_36984799delGAAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1576C>T (p.Gln526Ter)	25836	NIPBL	Pathogenic	587783889	RCV000146524;	N	MedGen:CN029798,OMIM:122470	5	36984858	36984858	NM_133433.3:c.1576C>T	NP_597677.2:p.Gln526Ter	NC_000005.9:g.36984858C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1591A>G (p.Thr531Ala)	25836	NIPBL	Uncertain significance	587783890	RCV000146525;	N	MedGen:CN029798,OMIM:122470	5	36984873	36984873	NM_133433.3:c.1591A>G	NP_597677.2:p.Thr531Ala	NC_000005.9:g.36984873A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1753delA (p.Ile585Leufs)	25836	NIPBL	Pathogenic	587783891	RCV000146526;	N	MedGen:CN029798,OMIM:122470	5	36985035	36985035	NM_015384.4:c.1753delA	NP_056199.2:p.Ile585Leufs	NC_000005.9:g.36985035delA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1801delA (p.Lys603Serfs)	25836	NIPBL	Pathogenic	727503767	RCV000157043;	N	MedGen:CN029798,OMIM:122470	5	36985083	36985083	NM_015384.4:c.1801delA	NP_056199.2:p.Lys603Serfs	NC_000005.9:g.36985083delA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.1885C>T (p.Arg629Ter)	25836	NIPBL	Pathogenic	587783892	RCV000146527;	N	MedGen:CN029798,OMIM:122470	5	36985167	36985167	NM_133433.3:c.1885C>T	NP_597677.2:p.Arg629Ter	NC_000005.9:g.36985167C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.1992dupC (p.Glu665Argfs)	25836	NIPBL	Pathogenic	797045748	RCV000194718;	N	MedGen:CN029798,OMIM:122470	5	36985274	36985274	NM_015384.4:c.1992dupC	NP_056199.2:p.Glu665Argfs	NC_000005.9:g.36985274dupC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2021A>G (p.Asn674Ser)	25836	NIPBL	Benign	3822471	RCV000086371; RCV000082482;	N	MedGen:CN029798,OMIM:122470; MedGen:CN169374	5	36985303	36985303	NM_015384.4:c.2021A>G	NP_056199.2:p.Asn674Ser	NC_000005.9:g.36985303A>G	-	CN029798 122470 Cornelia de Lange syndrome 1; CN169374 not specified
NM_015384.4(NIPBL):c.2046delA (p.Lys682Asnfs)	25836	NIPBL	Pathogenic	587783894	RCV000146532;	N	MedGen:CN029798,OMIM:122470	5	36985328	36985328	NM_015384.4:c.2046delA	NP_056199.2:p.Lys682Asnfs	NC_000005.9:g.36985328delA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2065A>T (p.Asn689Tyr)	25836	NIPBL	Uncertain significance	201482152	RCV000146533;	N	MedGen:CN029798,OMIM:122470	5	36985347	36985347	NM_133433.3:c.2065A>T	NP_597677.2:p.Asn689Tyr	NC_000005.9:g.36985347A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2093C>G (p.Ser698Ter)	25836	NIPBL	Pathogenic	587783896	RCV000146535;	N	MedGen:CN029798,OMIM:122470	5	36985375	36985375	NM_133433.3:c.2093C>G	NP_597677.2:p.Ser698Ter	NC_000005.9:g.36985375C>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2107_2108delCC (p.Pro703Lysfs)	25836	NIPBL	Pathogenic	587783897	RCV000146536;	N	MedGen:CN029798,OMIM:122470	5	36985389	36985390	NM_015384.4:c.2107_2108delCC	NP_056199.2:p.Pro703Lysfs	NC_000005.9:g.36985389_36985390delCC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2108delC (p.Pro703Glnfs)	25836	NIPBL	Pathogenic	587783898	RCV000146537;	N	MedGen:CN029798,OMIM:122470	5	36985390	36985390	NM_015384.4:c.2108delC	NP_056199.2:p.Pro703Glnfs	NC_000005.9:g.36985390delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2147_2148delAA (p.Lys717Glufs)	25836	NIPBL	Pathogenic	727503766	RCV000157042;	N	MedGen:CN029798,OMIM:122470	5	36985429	36985430	NM_015384.4:c.2147_2148delAA	NP_056199.2:p.Lys717Glufs	NC_000005.9:g.36985429_36985430delAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2256A>G (p.Glu752=)	25836	NIPBL	Uncertain significance	148075057	RCV000146538;	N	MedGen:CN029798,OMIM:122470	5	36985538	36985538	NM_133433.3:c.2256A>G	NP_597677.2:p.Glu752=	NC_000005.9:g.36985538A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2260C>T (p.Arg754Ter)	25836	NIPBL	Pathogenic	587783899	RCV000146539;	N	MedGen:CN029798,OMIM:122470	5	36985542	36985542	NM_133433.3:c.2260C>T	NP_597677.2:p.Arg754Ter	NC_000005.9:g.36985542C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys)	25836	NIPBL	Uncertain significance	185678374	RCV000146540; RCV000173917;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	36985576	36985576	NM_133433.3:c.2294G>A	NP_597677.2:p.Arg765Lys	NC_000005.9:g.36985576G>A	-	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_133433.3(NIPBL):c.2389C>T (p.Arg797Ter)	25836	NIPBL	Pathogenic	587783901	RCV000146542;	N	MedGen:CN029798,OMIM:122470	5	36985671	36985671	NM_133433.3:c.2389C>T	NP_597677.2:p.Arg797Ter	NC_000005.9:g.36985671C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2394_2397dupTGAA (p.Ala800Terfs)	25836	NIPBL	Pathogenic	797045750	RCV000193424;	N	MedGen:CN029798,OMIM:122470	5	36985676	36985679	NM_015384.4:c.2394_2397dupTGAA	NP_056199.2:p.Ala800Terfs	NC_000005.9:g.36985676_36985679dupTGAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2422C>T (p.Arg808Ter)	25836	NIPBL	Pathogenic	587783902	RCV000146543;	N	MedGen:CN029798,OMIM:122470	5	36985704	36985704	NM_133433.3:c.2422C>T	NP_597677.2:p.Arg808Ter	NC_000005.9:g.36985704C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2464delC (p.Gln822Lysfs)	25836	NIPBL	Pathogenic	797045751	RCV000194656;	N	MedGen:CN029798,OMIM:122470	5	36985746	36985746	NM_015384.4:c.2464delC	NP_056199.2:p.Gln822Lysfs	NC_000005.9:g.36985746delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2471C>T (p.Ser824Leu)	25836	NIPBL	Uncertain significance	587783904	RCV000146546;	N	MedGen:CN029798,OMIM:122470	5	36985753	36985753	NM_133433.3:c.2471C>T	NP_597677.2:p.Ser824Leu	NC_000005.9:g.36985753C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2479_2480delAG (p.Arg827Glyfs)	25836	NIPBL	Pathogenic	398124465	RCV000146547; RCV000082485;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	36985761	36985762	NM_015384.4:c.2479_2480delAG	NP_056199.2:p.Arg827Glyfs	NC_000005.9:g.36985761_36985762delAG	HGMD:CD042631	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_133433.3(NIPBL):c.2489C>G (p.Ser830Ter)	25836	NIPBL	Pathogenic	587783905	RCV000146548;	N	MedGen:CN029798,OMIM:122470	5	36985771	36985771	NM_133433.3:c.2489C>G	NP_597677.2:p.Ser830Ter	NC_000005.9:g.36985771C>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2494C>T (p.Arg832Ter)	25836	NIPBL	Pathogenic	587783906	RCV000146549;	N	MedGen:CN029798,OMIM:122470	5	36985776	36985776	NM_133433.3:c.2494C>T	NP_597677.2:p.Arg832Ter	NC_000005.9:g.36985776C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2500C>T (p.Arg834Ter)	25836	NIPBL	Pathogenic	587783907	RCV000146550;	N	MedGen:CN029798,OMIM:122470	5	36985782	36985782	NM_133433.3:c.2500C>T	NP_597677.2:p.Arg834Ter	NC_000005.9:g.36985782C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2505G>T (p.Gly835=)	25836	NIPBL	Uncertain significance	587783908	RCV000146551;	N	MedGen:CN029798,OMIM:122470	5	36985787	36985787	NM_133433.3:c.2505G>T	NP_597677.2:p.Gly835=	NC_000005.9:g.36985787G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2521C>T (p.Arg841Ter)	25836	NIPBL	Pathogenic	797045752	RCV000192908;	N	MedGen:CN029798,OMIM:122470	5	36985803	36985803	NM_133433.3:c.2521C>T	NP_597677.2:p.Arg841Ter	NC_000005.9:g.36985803C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2602C>T (p.Arg868Ter)	25836	NIPBL	Pathogenic	398124466	RCV000146553; RCV000082486;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	36985884	36985884	NM_133433.3:c.2602C>T	NP_597677.2:p.Arg868Ter	NC_000005.9:g.36985884C>T	-	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_015384.4(NIPBL):c.2626dupG (p.Asp876Glyfs)	25836	NIPBL	Pathogenic	398124467	RCV000173920; RCV000082487;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	36985908	36985908	NM_015384.4:c.2626dupG	NP_056199.2:p.Asp876Glyfs	NC_000005.9:g.36985908dupG	-	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_015384.4(NIPBL):c.2711delG (p.Arg904Asnfs)	25836	NIPBL	Pathogenic	587783909	RCV000146555;	N	MedGen:CN029798,OMIM:122470	5	36985993	36985993	NM_015384.4:c.2711delG	NP_056199.2:p.Arg904Asnfs	NC_000005.9:g.36985993delG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2773_2774delAA (p.Lys925Glufs)	25836	NIPBL	Pathogenic	587783910	RCV000146557;	N	MedGen:CN029798,OMIM:122470	5	36986055	36986056	NM_015384.4:c.2773_2774delAA	NP_056199.2:p.Lys925Glufs	NC_000005.9:g.36986055_36986056delAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2832T>A (p.Tyr944Ter)	25836	NIPBL	Pathogenic	587783911	RCV000146558;	N	MedGen:CN029798,OMIM:122470	5	36986114	36986114	NM_133433.3:c.2832T>A	NP_597677.2:p.Tyr944Ter	NC_000005.9:g.36986114T>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.2903A>G (p.Asn968Ser)	25836	NIPBL	Uncertain significance	180747605	RCV000146559;	N	MedGen:CN029798,OMIM:122470	5	36986185	36986185	NM_133433.3:c.2903A>G	NP_597677.2:p.Asn968Ser	NC_000005.9:g.36986185A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2903delA (p.Asn968Metfs)	25836	NIPBL	Pathogenic	587783912	RCV000146560;	N	MedGen:CN029798,OMIM:122470	5	36986185	36986185	NM_015384.4:c.2903delA	NP_056199.2:p.Asn968Metfs	NC_000005.9:g.36986185delA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.2965dupA (p.Ile989Asnfs)	25836	NIPBL	Pathogenic	797045754	RCV000194589;	N	MedGen:CN029798,OMIM:122470	5	36986247	36986247	NM_015384.4:c.2965dupA	NP_056199.2:p.Ile989Asnfs	NC_000005.9:g.36986247dupA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3015A>G (p.Leu1005=)	25836	NIPBL	Benign	1669445	RCV000086374; RCV000082488;	N	MedGen:CN029798,OMIM:122470; MedGen:CN169374	5	36986297	36986297	NM_015384.4:c.3015A>G	NP_056199.2:p.Leu1005=	NC_000005.9:g.36986297A>G	-	CN029798 122470 Cornelia de Lange syndrome 1; CN169374 not specified
NM_015384.4(NIPBL):c.3060_3063delAGAG (p.Glu1021Thrfs)	25836	NIPBL	Pathogenic	587783914	RCV000146563;	N	MedGen:CN029798,OMIM:122470	5	36986342	36986345	NM_015384.4:c.3060_3063delAGAG	NP_056199.2:p.Glu1021Thrfs	NC_000005.9:g.36986342_36986345delAGAG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3103C>G (p.Pro1035Ala)	25836	NIPBL	Uncertain significance	587783915	RCV000146564;	N	MedGen:CN029798,OMIM:122470	5	36986385	36986385	NM_133433.3:c.3103C>G	NP_597677.2:p.Pro1035Ala	NC_000005.9:g.36986385C>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3109A>G (p.Lys1037Glu)	25836	NIPBL	Uncertain significance	587783916	RCV000146565;	N	MedGen:CN029798,OMIM:122470	5	36986391	36986391	NM_133433.3:c.3109A>G	NP_597677.2:p.Lys1037Glu	NC_000005.9:g.36986391A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3122-2A>G	25836	NIPBL	Likely pathogenic	587783918	RCV000146568;	N	MedGen:CN029798,OMIM:122470	5	36995722	36995722	NM_133433.3:c.3122-2A>G		NC_000005.9:g.36995722A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3264delC (p.Ser1089Valfs)	25836	NIPBL	Pathogenic	797045756	RCV000194051;	N	MedGen:CN029798,OMIM:122470	5	36995866	36995866	NM_015384.4:c.3264delC	NP_056199.2:p.Ser1089Valfs	NC_000005.9:g.36995866delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3304+5G>A	25836	NIPBL	Likely pathogenic	80358356	RCV000146569;	N	MedGen:CN029798,OMIM:122470	5	36995911	36995911	NM_133433.3:c.3304+5G>A		NC_000005.9:g.36995911G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3305-1G>T	25836	NIPBL	Pathogenic	80358375	RCV000146570;	N	MedGen:CN029798,OMIM:122470	5	37000474	37000474	NM_133433.3:c.3305-1G>T		NC_000005.9:g.37000474G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3322A>T (p.Lys1108Ter)	25836	NIPBL	Pathogenic	587783919	RCV000146571;	N	MedGen:CN029798,OMIM:122470	5	37000492	37000492	NM_133433.3:c.3322A>T	NP_597677.2:p.Lys1108Ter	NC_000005.9:g.37000492A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3369A>C (p.Arg1123Ser)	25836	NIPBL	Uncertain significance	140344071	RCV000146573;	N	MedGen:CN029798,OMIM:122470	5	37000539	37000539	NM_133433.3:c.3369A>C	NP_597677.2:p.Arg1123Ser	NC_000005.9:g.37000539A>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3423A>G (p.Ser1141=)	25836	NIPBL	Uncertain significance	571024836	RCV000146574;	N	MedGen:CN029798,OMIM:122470	5	37000593	37000593	NM_133433.3:c.3423A>G	NP_597677.2:p.Ser1141=	NC_000005.9:g.37000593A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3440G>A (p.Arg1147Gln)	25836	NIPBL	Likely pathogenic	587783921	RCV000146575;	N	MedGen:CN029798,OMIM:122470	5	37000610	37000610	NM_133433.3:c.3440G>A	NP_597677.2:p.Arg1147Gln	NC_000005.9:g.37000610G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3445C>T (p.Arg1149Ter)	25836	NIPBL	Pathogenic	80358374	RCV000086375;	N	MedGen:CN029798,OMIM:122470	5	37000615	37000615	NM_015384.4:c.3445C>T	NP_056199.2:p.Arg1149Ter	NC_000005.9:g.37000615C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3461_3462delCT (p.Ser1154Terfs)	25836	NIPBL	Pathogenic	587783923	RCV000146577;	N	MedGen:CN029798,OMIM:122470	5	37000631	37000632	NM_015384.4:c.3461_3462delCT	NP_056199.2:p.Ser1154Terfs	NC_000005.9:g.37000631_37000632delCT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3503-9T>G	25836	NIPBL	Uncertain significance	587783924	RCV000146578;	N	MedGen:CN029798,OMIM:122470	5	37000910	37000910	NM_133433.3:c.3503-9T>G		NC_000005.9:g.37000910T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3526_3530delGAAAA (p.Glu1176Thrfs)	25836	NIPBL	Pathogenic	587783925	RCV000146579;	N	MedGen:CN029798,OMIM:122470	5	37000942	37000946	NM_015384.4:c.3526_3530delGAAAA	NP_056199.2:p.Glu1176Thrfs	NC_000005.9:g.37000942_37000946delGAAAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3575-3C>G	25836	NIPBL	Pathogenic	587783926	RCV000146581;	N	MedGen:CN029798,OMIM:122470	5	37001088	37001088	NM_133433.3:c.3575-3C>G		NC_000005.9:g.37001088C>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3616_3618delATA (p.Ile1206del)	25836	NIPBL	Pathogenic	121918266	RCV000002226;	N	MedGen:CN029798,OMIM:122470	5	37001132	37001134	NM_015384.4:c.3616_3618delATA	NP_056199.2:p.Ile1206del	NC_000005.9:g.37001132_37001134delATA	OMIM Allelic Variant:608667.0006	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3737C>G (p.Ala1246Gly)	25836	NIPBL	Pathogenic	121918268	RCV000002229;	N	MedGen:CN029798,OMIM:122470	5	37002836	37002836	NM_015384.4:c.3737C>G	NP_056199.2:p.Ala1246Gly	NC_000005.9:g.37002836C>G	OMIM Allelic Variant:608667.0009	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3788_3789delTG (p.Val1263Glufs)	25836	NIPBL	Pathogenic	587783930	RCV000146586;	N	MedGen:CN029798,OMIM:122470	5	37003382	37003383	NM_015384.4:c.3788_3789delTG	NP_056199.2:p.Val1263Glufs	NC_000005.9:g.37003382_37003383delTG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3804_3818delCTTGGAGAAGAATAT (p.Leu1269_Ile1273del)	25836	NIPBL	Likely pathogenic	587783931	RCV000146587;	N	MedGen:CN029798,OMIM:122470	5	37003398	37003412	NM_015384.4:c.3804_3818delCTTGGAGAAGAATAT	NP_056199.2:p.Leu1269_Ile1273del	NC_000005.9:g.37003398_37003412delCTTGGAGAAGAATAT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3818T>G (p.Ile1273Ser)	25836	NIPBL	Likely pathogenic	587783932	RCV000146588;	N	MedGen:CN029798,OMIM:122470	5	37003412	37003412	NM_133433.3:c.3818T>G	NP_597677.2:p.Ile1273Ser	NC_000005.9:g.37003412T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3851A>G (p.Asn1284Ser)	25836	NIPBL	Uncertain significance	143152112	RCV000146589;	N	MedGen:CN029798,OMIM:122470	5	37003445	37003445	NM_133433.3:c.3851A>G	NP_597677.2:p.Asn1284Ser	NC_000005.9:g.37003445A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3855+1G>T	25836	NIPBL	Pathogenic	587783933	RCV000146590;	N	MedGen:CN029798,OMIM:122470	5	37003450	37003450	NM_133433.3:c.3855+1G>T		NC_000005.9:g.37003450G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3855+5G>A	25836	NIPBL	Likely pathogenic	80358378	RCV000146591;	N	MedGen:CN029798,OMIM:122470	5	37003454	37003454	NM_133433.3:c.3855+5G>A		NC_000005.9:g.37003454G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3856-12A>C	25836	NIPBL	Uncertain significance	199847583	RCV000146592;	N	MedGen:CN029798,OMIM:122470	5	37006447	37006447	NM_133433.3:c.3856-12A>C		NC_000005.9:g.37006447A>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3856-7_3856-5del	25836	NIPBL	Likely pathogenic	797045757	RCV000193100;	N	MedGen:CN029798,OMIM:122470	5	37006452	37006454	NM_133433.3:c.3856-7_3856-5del		NC_000005.9:g.37006452_37006454delTTT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3866_3869delCTGA (p.Thr1289Lysfs)	25836	NIPBL	Pathogenic	587783934	RCV000146593;	N	MedGen:CN029798,OMIM:122470	5	37006469	37006472	NM_015384.4:c.3866_3869delCTGA	NP_056199.2:p.Thr1289Lysfs	NC_000005.9:g.37006469_37006472delCTGA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3868G>A (p.Glu1290Lys)	25836	NIPBL	Uncertain significance	587783935	RCV000146594;	N	MedGen:CN029798,OMIM:122470	5	37006471	37006471	NM_133433.3:c.3868G>A	NP_597677.2:p.Glu1290Lys	NC_000005.9:g.37006471G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.3874G>T (p.Glu1292Ter)	25836	NIPBL	Pathogenic	587783936	RCV000146595;	N	MedGen:CN029798,OMIM:122470	5	37006477	37006477	NM_133433.3:c.3874G>T	NP_597677.2:p.Glu1292Ter	NC_000005.9:g.37006477G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.3897T>C (p.Leu1299=)	25836	NIPBL	Uncertain significance	80358354	RCV000086376;	N	MedGen:CN029798,OMIM:122470	5	37006500	37006500	NM_015384.4:c.3897T>C	NP_056199.2:p.Leu1299=	NC_000005.9:g.37006500T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4017C>A (p.Tyr1339Ter)	25836	NIPBL	Pathogenic	587783938	RCV000146597;	N	MedGen:CN029798,OMIM:122470	5	37006620	37006620	NM_133433.3:c.4017C>A	NP_597677.2:p.Tyr1339Ter	NC_000005.9:g.37006620C>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4088-2A>T	25836	NIPBL	Pathogenic	587783939	RCV000146598;	N	MedGen:CN029798,OMIM:122470	5	37007423	37007423	NM_133433.3:c.4088-2A>T		NC_000005.9:g.37007423A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4098_4101delAAGT (p.Leu1366Phefs)	25836	NIPBL	Pathogenic	587783940	RCV000146599;	N	MedGen:CN029798,OMIM:122470	5	37007435	37007438	NM_015384.4:c.4098_4101delAAGT	NP_056199.2:p.Leu1366Phefs	NC_000005.9:g.37007435_37007438delAAGT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4143_4144delAG (p.Arg1381Serfs)	25836	NIPBL	Pathogenic	587783941	RCV000146600;	N	MedGen:CN029798,OMIM:122470	5	37007480	37007481	NM_015384.4:c.4143_4144delAG	NP_056199.2:p.Arg1381Serfs	NC_000005.9:g.37007480_37007481delAG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4240-1G>C	25836	NIPBL	Pathogenic	587783942	RCV000146602;	N	MedGen:CN029798,OMIM:122470	5	37008109	37008109	NM_133433.3:c.4240-1G>C		NC_000005.9:g.37008109G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4275_4287delAAATGTCAGTGAA (p.Glu1425Aspfs)	25836	NIPBL	Pathogenic	587783944	RCV000146604;	N	MedGen:CN029798,OMIM:122470	5	37008145	37008157	NM_015384.4:c.4275_4287delAAATGTCAGTGAA	NP_056199.2:p.Glu1425Aspfs	NC_000005.9:g.37008145_37008157delAAATGTCAGTGAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4285_4294delGAACTACAGT (p.Glu1429Cysfs)	25836	NIPBL	Pathogenic	80358386	RCV000086377;	N	MedGen:CN029798,OMIM:122470	5	37008155	37008164	NM_015384.4:c.4285_4294delGAACTACAGT	NP_056199.2:p.Glu1429Cysfs	NC_000005.9:g.37008155_37008164delGAACTACAGT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4320+1G>A	25836	NIPBL	Pathogenic	587783945	RCV000146606;	N	MedGen:CN029798,OMIM:122470	5	37008191	37008191	NM_133433.3:c.4320+1G>A		NC_000005.9:g.37008191G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4320+2dup	25836	NIPBL	Likely pathogenic	797045758	RCV000193944;	N	MedGen:CN029798,OMIM:122470	5	37008192	37008192	NM_133433.3:c.4320+2dup		NC_000005.9:g.37008192dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4321-15A>G	25836	NIPBL	Uncertain significance	587783946	RCV000146607;	N	MedGen:CN029798,OMIM:122470	5	37008710	37008710	NM_133433.3:c.4321-15A>G		NC_000005.9:g.37008710A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4321G>T (p.Val1441Leu)	25836	NIPBL	Pathogenic	727503769	RCV000157045;	N	MedGen:CN029798,OMIM:122470	5	37008725	37008725	NM_015384.4:c.4321G>T	NP_056199.2:p.Val1441Leu	NC_000005.9:g.37008725G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4421G>C (p.Arg1474Thr)	25836	NIPBL	Likely pathogenic	587783947	RCV000146608;	N	MedGen:CN029798,OMIM:122470	5	37008825	37008825	NM_133433.3:c.4421G>C	NP_597677.2:p.Arg1474Thr	NC_000005.9:g.37008825G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4422G>T (p.Arg1474Ser)	25836	NIPBL	Uncertain significance	80358358	RCV000086378;	N	MedGen:CN029798,OMIM:122470	5	37010189	37010189	NM_015384.4:c.4422G>T	NP_056199.2:p.Arg1474Ser	NC_000005.9:g.37010189G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg)	25836	NIPBL	Likely pathogenic	587783948	RCV000146609;	N	MedGen:CN029798,OMIM:122470	5	37010206	37010206	NM_133433.3:c.4439T>G	NP_597677.2:p.Met1480Arg	NC_000005.9:g.37010206T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4495C>T (p.Gln1499Ter)	25836	NIPBL	Pathogenic	797045760	RCV000193404;	N	MedGen:CN029798,OMIM:122470	5	37010262	37010262	NM_133433.3:c.4495C>T	NP_597677.2:p.Gln1499Ter	NC_000005.9:g.37010262C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4511T>A (p.Leu1504Ter)	25836	NIPBL	Pathogenic	80358369	RCV000086379;	N	MedGen:CN029798,OMIM:122470	5	37010278	37010278	NM_015384.4:c.4511T>A	NP_056199.2:p.Leu1504Ter	NC_000005.9:g.37010278T>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4529dupA (p.Asp1510Glufs)	25836	NIPBL	Pathogenic	797045761	RCV000194257;	N	MedGen:CN029798,OMIM:122470	5	37010296	37010296	NM_133433.3:c.4529dupA	NP_597677.2:p.Asp1510Glufs	NC_000005.9:g.37010296dupA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4532_4533delCT (p.Ser1511Terfs)	25836	NIPBL	Pathogenic	797045762	RCV000192461;	N	MedGen:CN029798,OMIM:122470	5	37010299	37010300	NM_015384.4:c.4532_4533delCT	NP_056199.2:p.Ser1511Terfs	NC_000005.9:g.37010299_37010300delCT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4543G>T (p.Glu1515Ter)	25836	NIPBL	Pathogenic	587783950	RCV000146611;	N	MedGen:CN029798,OMIM:122470	5	37010310	37010310	NM_133433.3:c.4543G>T	NP_597677.2:p.Glu1515Ter	NC_000005.9:g.37010310G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528Leufs)	25836	NIPBL	Pathogenic	797045764	RCV000194191;	N	MedGen:CN029798,OMIM:122470	5	37014804	37014805	NM_133433.3:c.4580_4581insCCTGTCAACTAACATGT	NP_597677.2:p.Thr1528Leufs	NC_000005.9:g.37014804_37014805insCCTGTCAACTAACATGT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4593T>G (p.Tyr1531Ter)	25836	NIPBL	Pathogenic	587783952	RCV000146614;	N	MedGen:CN029798,OMIM:122470	5	37014817	37014817	NM_133433.3:c.4593T>G	NP_597677.2:p.Tyr1531Ter	NC_000005.9:g.37014817T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4606C>T (p.Arg1536Ter)	25836	NIPBL	Pathogenic	121918269	RCV000002232;	N	MedGen:CN029798,OMIM:122470	5	37014830	37014830	NM_133433.3:c.4606C>T	NP_597677.2:p.Arg1536Ter	NC_000005.9:g.37014830C>T	OMIM Allelic Variant:608667.0012	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4636delC (p.Lys1548Asnfs)	25836	NIPBL	Pathogenic	587783953	RCV000146615;	N	MedGen:CN029798,OMIM:122470	5	37014860	37014860	NM_015384.4:c.4636delC	NP_056199.2:p.Lys1548Asnfs	NC_000005.9:g.37014860delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4643+1G>C	25836	NIPBL	Pathogenic	587783954	RCV000146616;	N	MedGen:CN029798,OMIM:122470	5	37014868	37014868	NM_133433.3:c.4643+1G>C		NC_000005.9:g.37014868G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4663delG (p.Glu1555Lysfs)	25836	NIPBL	Pathogenic	587783955	RCV000146617;	N	MedGen:CN029798,OMIM:122470	5	37016159	37016159	NM_015384.4:c.4663delG	NP_056199.2:p.Glu1555Lysfs	NC_000005.9:g.37016159delG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4684_4687delTTTG (p.Phe1562Lysfs)	25836	NIPBL	Pathogenic	587783957	RCV000146619;	N	MedGen:CN029798,OMIM:122470	5	37016180	37016183	NM_015384.4:c.4684_4687delTTTG	NP_056199.2:p.Phe1562Lysfs	NC_000005.9:g.37016180_37016183delTTTG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4712C>A (p.Ser1571Ter)	25836	NIPBL	Pathogenic	77632238	RCV000146620;	N	MedGen:CN029798,OMIM:122470	5	37016208	37016208	NM_133433.3:c.4712C>A	NP_597677.2:p.Ser1571Ter	NC_000005.9:g.37016208C>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4731A>G (p.Glu1577=)	25836	NIPBL	Uncertain significance	140021654	RCV000146621;	N	MedGen:CN029798,OMIM:122470	5	37016227	37016227	NM_133433.3:c.4731A>G	NP_597677.2:p.Glu1577=	NC_000005.9:g.37016227A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4806_4807delGA (p.Glu1602Aspfs)	25836	NIPBL	Pathogenic	80358372	RCV000086380;	N	MedGen:CN029798,OMIM:122470	5	37017150	37017151	NM_015384.4:c.4806_4807delGA	NP_056199.2:p.Glu1602Aspfs	NC_000005.9:g.37017150_37017151delGA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4818_4819delAG (p.Arg1606Serfs)	25836	NIPBL	Pathogenic	587783959	RCV000146624;	N	MedGen:CN029798,OMIM:122470	5	37017162	37017163	NM_015384.4:c.4818_4819delAG	NP_056199.2:p.Arg1606Serfs	NC_000005.9:g.37017162_37017163delAG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4893dupA (p.Gly1632Argfs)	25836	NIPBL	Pathogenic	797045766	RCV000193602;	N	MedGen:CN029798,OMIM:122470	5	37017237	37017237	NM_015384.4:c.4893dupA	NP_056199.2:p.Gly1632Argfs	NC_000005.9:g.37017237dupA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.4965_4972delGCTTGATT (p.Asp1657Glyfs)	25836	NIPBL	Pathogenic	797045767	RCV000194873;	N	MedGen:CN029798,OMIM:122470	5	37019457	37019464	NM_133433.3:c.4965_4972delGCTTGATT	NP_597677.2:p.Asp1657Glyfs	NC_000005.9:g.37019457_37019464delGCTTGATT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.4988_4991dupCTGA (p.Glu1664Aspfs)	25836	NIPBL	Pathogenic	797045768	RCV000192335;	N	MedGen:CN029798,OMIM:122470	5	37019480	37019483	NM_015384.4:c.4988_4991dupCTGA	NP_056199.2:p.Glu1664Aspfs	NC_000005.9:g.37019480_37019483dupCTGA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5033_5039delCCCAGTG (p.Ala1678Glyfs)	25836	NIPBL	Pathogenic	587783960	RCV000146627;	N	MedGen:CN029798,OMIM:122470	5	37020583	37020589	NM_015384.4:c.5033_5039delCCCAGTG	NP_056199.2:p.Ala1678Glyfs	NC_000005.9:g.37020583_37020589delCCCAGTG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5044C>T (p.Arg1682Ter)	25836	NIPBL	Pathogenic	797045769	RCV000193538;	N	MedGen:CN029798,OMIM:122470	5	37020594	37020594	NM_133433.3:c.5044C>T	NP_597677.2:p.Arg1682Ter	NC_000005.9:g.37020594C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5046_5047insTG (p.Asp1683Trpfs)	25836	NIPBL	Pathogenic	797045770	RCV000194767;	N	MedGen:CN029798,OMIM:122470	5	37020596	37020597	NM_133433.3:c.5046_5047insTG	NP_597677.2:p.Asp1683Trpfs	NC_000005.9:g.37020596_37020597insTG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5167C>T (p.Arg1723Ter)	25836	NIPBL	Pathogenic	121918267	RCV000002228;	N	MedGen:CN029798,OMIM:122470	5	37020717	37020717	NM_133433.3:c.5167C>T	NP_597677.2:p.Arg1723Ter	NC_000005.9:g.37020717C>T	OMIM Allelic Variant:608667.0008	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5174delA (p.Lys1725Serfs)	25836	NIPBL	Pathogenic	587783961	RCV000146628;	N	MedGen:CN029798,OMIM:122470	5	37020724	37020724	NM_015384.4:c.5174delA	NP_056199.2:p.Lys1725Serfs	NC_000005.9:g.37020724delA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5212dupT (p.Ser1739Terfs)	25836	NIPBL	Pathogenic	730880331	RCV000157041;	N	MedGen:CN029798,OMIM:122470	5	37020762	37020762	NM_015384.4:c.5212dupT	NP_056199.2:p.Ser1739Terfs	NC_000005.9:g.37020762dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5327A>T (p.Gln1776Leu)	25836	NIPBL	Likely pathogenic	587783966	RCV000146633;	N	MedGen:CN029798,OMIM:122470	5	37020978	37020978	NM_133433.3:c.5327A>T	NP_597677.2:p.Gln1776Leu	NC_000005.9:g.37020978A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5328+1G>A	25836	NIPBL	Pathogenic	587783967	RCV000146634;	N	MedGen:CN029798,OMIM:122470	5	37020980	37020980	NM_133433.3:c.5328+1G>A		NC_000005.9:g.37020980G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5329-1G>C	25836	NIPBL	Pathogenic	587783969	RCV000146636;	N	MedGen:CN029798,OMIM:122470	5	37022152	37022152	NM_133433.3:c.5329-1G>C		NC_000005.9:g.37022152G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5330T>G (p.Ile1777Ser)	25836	NIPBL	Uncertain significance	587783970	RCV000146637;	N	MedGen:CN029798,OMIM:122470	5	37022154	37022154	NM_133433.3:c.5330T>G	NP_597677.2:p.Ile1777Ser	NC_000005.9:g.37022154T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5335C>T (p.Arg1779Ter)	25836	NIPBL	Pathogenic	587783971	RCV000146638;	N	MedGen:CN029798,OMIM:122470	5	37022159	37022159	NM_133433.3:c.5335C>T	NP_597677.2:p.Arg1779Ter	NC_000005.9:g.37022159C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5365C>T (p.Arg1789Ter)	25836	NIPBL	Pathogenic	587783972	RCV000146641;	N	MedGen:CN029798,OMIM:122470	5	37022189	37022189	NM_133433.3:c.5365C>T	NP_597677.2:p.Arg1789Ter	NC_000005.9:g.37022189C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5366G>A (p.Arg1789Gln)	25836	NIPBL	Likely pathogenic	80358380	RCV000086381;	N	MedGen:CN029798,OMIM:122470	5	37022190	37022190	NM_133433.3:c.5366G>A	NP_597677.2:p.Arg1789Gln	NC_000005.9:g.37022190G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5378T>G (p.Met1793Arg)	25836	NIPBL	Uncertain significance	483353060	RCV000119818;	N	MedGen:CN029798,OMIM:122470	5	37022202	37022202	NM_133433.3:c.5378T>G	NP_597677.2:p.Met1793Arg	NC_000005.9:g.37022202T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5389_5392delTCTG (p.Ser1797Argfs)	25836	NIPBL	Pathogenic	587783973	RCV000146642;	N	MedGen:CN029798,OMIM:122470	5	37022213	37022216	NM_015384.4:c.5389_5392delTCTG	NP_056199.2:p.Ser1797Argfs	NC_000005.9:g.37022213_37022216delTCTG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5428-2A>G	25836	NIPBL	Pathogenic	587783974	RCV000146643;	N	MedGen:CN029798,OMIM:122470	5	37022344	37022344	NM_133433.3:c.5428-2A>G		NC_000005.9:g.37022344A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5440C>T (p.Arg1814Ter)	25836	NIPBL	Pathogenic	80358362	RCV000086382; RCV000082493;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	37022358	37022358	NM_015384.4:c.5440C>T	NP_056199.2:p.Arg1814Ter	NC_000005.9:g.37022358C>T	-	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_133433.3(NIPBL):c.5455C>T (p.Arg1819Ter)	25836	NIPBL	Pathogenic	587783975	RCV000146644;	N	MedGen:CN029798,OMIM:122470	5	37022373	37022373	NM_133433.3:c.5455C>T	NP_597677.2:p.Arg1819Ter	NC_000005.9:g.37022373C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5456G>A (p.Arg1819Gln)	25836	NIPBL	Likely pathogenic	80358366	RCV000086383;	N	MedGen:CN029798,OMIM:122470	5	37022374	37022374	NM_133433.3:c.5456G>A	NP_597677.2:p.Arg1819Gln	NC_000005.9:g.37022374G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5464G>T (p.Asp1822Tyr)	25836	NIPBL	Uncertain significance	587783976	RCV000146645;	N	MedGen:CN029798,OMIM:122470	5	37022382	37022382	NM_133433.3:c.5464G>T	NP_597677.2:p.Asp1822Tyr	NC_000005.9:g.37022382G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5465A>G (p.Asp1822Gly)	25836	NIPBL	Likely pathogenic	587783977	RCV000146646;	N	MedGen:CN029798,OMIM:122470	5	37022383	37022383	NM_133433.3:c.5465A>G	NP_597677.2:p.Asp1822Gly	NC_000005.9:g.37022383A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5482C>T (p.Arg1828Ter)	25836	NIPBL	Pathogenic	62654864	RCV000146647;	N	MedGen:CN029798,OMIM:122470	5	37022400	37022400	NM_133433.3:c.5482C>T	NP_597677.2:p.Arg1828Ter	NC_000005.9:g.37022400C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5483G>A (p.Arg1828Gln)	25836	NIPBL	Pathogenic	587783978	RCV000146648;	N	MedGen:CN029798,OMIM:122470	5	37022401	37022401	NM_133433.3:c.5483G>A	NP_597677.2:p.Arg1828Gln	NC_000005.9:g.37022401G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5566A>G (p.Arg1856Gly)	25836	NIPBL	Likely pathogenic	80358373	RCV000086384;	N	MedGen:CN029798,OMIM:122470	5	37022484	37022484	NM_133433.3:c.5566A>G	NP_597677.2:p.Arg1856Gly	NC_000005.9:g.37022484A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5580dupT (p.Gly1861Trpfs)	25836	NIPBL	Pathogenic	797045771	RCV000193008;	N	MedGen:CN029798,OMIM:122470	5	37024692	37024692	NM_133433.3:c.5580dupT	NP_597677.2:p.Gly1861Trpfs	NC_000005.9:g.37024692dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5679dupT (p.Arg1894Serfs)	25836	NIPBL	Pathogenic	797045772	RCV000193856;	N	MedGen:CN029798,OMIM:122470	5	37024791	37024791	NM_015384.4:c.5679dupT	NP_056199.2:p.Arg1894Serfs	NC_000005.9:g.37024791dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5709+1G>A	25836	NIPBL	Pathogenic	587783979	RCV000146650;	N	MedGen:CN029798,OMIM:122470	5	37024822	37024822	NM_133433.3:c.5709+1G>A		NC_000005.9:g.37024822G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5709+2T>G	25836	NIPBL	Pathogenic	587783980	RCV000146651;	N	MedGen:CN029798,OMIM:122470	5	37024823	37024823	NM_133433.3:c.5709+2T>G		NC_000005.9:g.37024823T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5732A>C (p.Gln1911Pro)	25836	NIPBL	Likely pathogenic	587783982	RCV000146653;	N	MedGen:CN029798,OMIM:122470	5	37026353	37026353	NM_133433.3:c.5732A>C	NP_597677.2:p.Gln1911Pro	NC_000005.9:g.37026353A>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5739_5740delCT (p.Trp1914Valfs)	25836	NIPBL	Pathogenic	797045773	RCV000194706;	N	MedGen:CN029798,OMIM:122470	5	37026360	37026361	NM_015384.4:c.5739_5740delCT	NP_056199.2:p.Trp1914Valfs	NC_000005.9:g.37026360_37026361delCT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5808+1G>A	25836	NIPBL	Pathogenic	587783984	RCV000146655;	N	MedGen:CN029798,OMIM:122470	5	37026430	37026430	NM_133433.3:c.5808+1G>A		NC_000005.9:g.37026430G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5808+2T>G	25836	NIPBL	Pathogenic	794727556	RCV000177577;	N	MedGen:CN029798,OMIM:122470	5	37026431	37026431	NM_015384.4:c.5808+2T>G		NC_000005.9:g.37026431T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5862+1G>A	25836	NIPBL	Pathogenic	587783985	RCV000146656;	N	MedGen:CN029798,OMIM:122470	5	37027515	37027515	NM_133433.3:c.5862+1G>A		NC_000005.9:g.37027515G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5923G>T (p.Val1975Phe)	25836	NIPBL	Likely pathogenic	587783986	RCV000146657;	N	MedGen:CN029798,OMIM:122470	5	37036541	37036541	NM_133433.3:c.5923G>T	NP_597677.2:p.Val1975Phe	NC_000005.9:g.37036541G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.5924_5926delTTG (p.Val1975del)	25836	NIPBL	Likely pathogenic	587783987	RCV000146658;	N	MedGen:CN029798,OMIM:122470	5	37036542	37036544	NM_015384.4:c.5924_5926delTTG	NP_056199.2:p.Val1975del	NC_000005.9:g.37036542_37036544delTTG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.5944A>C (p.Ile1982Leu)	25836	NIPBL	Uncertain significance	370593530	RCV000146659;	N	MedGen:CN029798,OMIM:122470	5	37036562	37036562	NM_133433.3:c.5944A>C	NP_597677.2:p.Ile1982Leu	NC_000005.9:g.37036562A>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6037A>C (p.Ser2013Arg)	25836	NIPBL	Uncertain significance	587783989	RCV000146662;	N	MedGen:CN029798,OMIM:122470	5	37038769	37038769	NM_133433.3:c.6037A>C	NP_597677.2:p.Ser2013Arg	NC_000005.9:g.37038769A>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6067C>A (p.His2023Asn)	25836	NIPBL	Uncertain significance	587783990	RCV000146663;	N	MedGen:CN029798,OMIM:122470	5	37038799	37038799	NM_133433.3:c.6067C>A	NP_597677.2:p.His2023Asn	NC_000005.9:g.37038799C>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6068A>G (p.His2023Arg)	25836	NIPBL	Uncertain significance	587783991	RCV000146664;	N	MedGen:CN029798,OMIM:122470	5	37038800	37038800	NM_133433.3:c.6068A>G	NP_597677.2:p.His2023Arg	NC_000005.9:g.37038800A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6071C>A (p.Ala2024Glu)	25836	NIPBL	Uncertain significance	587783992	RCV000146665;	N	MedGen:CN029798,OMIM:122470	5	37038803	37038803	NM_133433.3:c.6071C>A	NP_597677.2:p.Ala2024Glu	NC_000005.9:g.37038803C>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6108+1G>T	25836	NIPBL	Pathogenic	587783994	RCV000146667;	N	MedGen:CN029798,OMIM:122470	5	37038841	37038841	NM_133433.3:c.6108+1G>T		NC_000005.9:g.37038841G>C,NC_000005.9:g.37038841G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6108+1G>C	25836	NIPBL	Pathogenic	587783994	RCV000177818;	N	MedGen:CN029798,OMIM:122470	5	37038841	37038841	NM_015384.4:c.6108+1G>C		NC_000005.9:g.37038841G>C,NC_000005.9:g.37038841G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6108+2T>C	25836	NIPBL	Pathogenic	797045775	RCV000194053;	N	MedGen:CN029798,OMIM:122470	5	37038842	37038842	NM_133433.3:c.6108+2T>C		NC_000005.9:g.37038842T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6108+7A>G	25836	NIPBL	Uncertain significance	587783995	RCV000146668;	N	MedGen:CN029798,OMIM:122470	5	37038847	37038847	NM_133433.3:c.6108+7A>G		NC_000005.9:g.37038847A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6158T>C (p.Leu2053Pro)	25836	NIPBL	Likely pathogenic	587783997	RCV000146671;	N	MedGen:CN029798,OMIM:122470	5	37044498	37044498	NM_133433.3:c.6158T>C	NP_597677.2:p.Leu2053Pro	NC_000005.9:g.37044498T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6170T>C (p.Leu2057Pro)	25836	NIPBL	Likely pathogenic	587783998	RCV000146673;	N	MedGen:CN029798,OMIM:122470	5	37044510	37044510	NM_133433.3:c.6170T>C	NP_597677.2:p.Leu2057Pro	NC_000005.9:g.37044510T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6182C>T (p.Pro2061Leu)	25836	NIPBL	Uncertain significance	587783999	RCV000146674;	N	MedGen:CN029798,OMIM:122470	5	37044522	37044522	NM_133433.3:c.6182C>T	NP_597677.2:p.Pro2061Leu	NC_000005.9:g.37044522C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6242G>T (p.Gly2081Val)	25836	NIPBL	Likely pathogenic	587784000	RCV000146675;	N	MedGen:CN029798,OMIM:122470	5	37044582	37044582	NM_133433.3:c.6242G>T	NP_597677.2:p.Gly2081Val	NC_000005.9:g.37044582G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6249+2dup	25836	NIPBL	Pathogenic	797045776	RCV000194935;	N	MedGen:CN029798,OMIM:122470	5	37044591	37044591	NM_133433.3:c.6249+2dup		NC_000005.9:g.37044591dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6250G>T (p.Val2084Leu)	25836	NIPBL	Likely pathogenic	587784002	RCV000146677;	N	MedGen:CN029798,OMIM:122470	5	37044738	37044738	NM_133433.3:c.6250G>T	NP_597677.2:p.Val2084Leu	NC_000005.9:g.37044738G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6266T>G (p.Val2089Gly)	25836	NIPBL	Likely pathogenic	587784003	RCV000146678;	N	MedGen:CN029798,OMIM:122470	5	37044754	37044754	NM_133433.3:c.6266T>G	NP_597677.2:p.Val2089Gly	NC_000005.9:g.37044754T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6316G>C (p.Val2106Leu)	25836	NIPBL	Likely pathogenic	587784004	RCV000146679;	N	MedGen:CN029798,OMIM:122470	5	37044804	37044804	NM_133433.3:c.6316G>C	NP_597677.2:p.Val2106Leu	NC_000005.9:g.37044804G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6317_6320delTGTG (p.Val2106Glyfs)	25836	NIPBL	Pathogenic	587784005	RCV000146680;	N	MedGen:CN029798,OMIM:122470	5	37044805	37044808	NM_015384.4:c.6317_6320delTGTG	NP_056199.2:p.Val2106Glyfs	NC_000005.9:g.37044805_37044808delTGTG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6343G>A (p.Gly2115Ser)	25836	NIPBL	Likely pathogenic	587784007	RCV000146683;	N	MedGen:CN029798,OMIM:122470	5	37044831	37044831	NM_133433.3:c.6343G>A	NP_597677.2:p.Gly2115Ser	NC_000005.9:g.37044831G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6343+5G>A	25836	NIPBL	Uncertain significance	80358383	RCV000146682;	N	MedGen:CN029798,OMIM:122470	5	37044836	37044836	NM_133433.3:c.6343+5G>A		NC_000005.9:g.37044836G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6362_6364delAAA (p.Lys2121del)	25836	NIPBL	Likely pathogenic	587784008	RCV000146684;	N	MedGen:CN029798,OMIM:122470	5	37045563	37045565	NM_015384.4:c.6362_6364delAAA	NP_056199.2:p.Lys2121del	NC_000005.9:g.37045563_37045565delAAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6478G>T (p.Asp2160Tyr)	25836	NIPBL	Likely pathogenic	147054690	RCV000146689;	N	MedGen:CN029798,OMIM:122470	5	37045679	37045679	NM_133433.3:c.6478G>T	NP_597677.2:p.Asp2160Tyr	NC_000005.9:g.37045679G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6565C>T (p.Gln2189Ter)	25836	NIPBL	Pathogenic	587784013	RCV000146691;	N	MedGen:CN029798,OMIM:122470	5	37046277	37046277	NM_133433.3:c.6565C>T	NP_597677.2:p.Gln2189Ter	NC_000005.9:g.37046277C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6568A>G (p.Thr2190Ala)	25836	NIPBL	Uncertain significance	587784014	RCV000146692;	N	MedGen:CN029798,OMIM:122470	5	37046280	37046280	NM_133433.3:c.6568A>G	NP_597677.2:p.Thr2190Ala	NC_000005.9:g.37046280A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6571A>T (p.Lys2191Ter)	25836	NIPBL	Pathogenic	587784015	RCV000146693;	N	MedGen:CN029798,OMIM:122470	5	37046283	37046283	NM_133433.3:c.6571A>T	NP_597677.2:p.Lys2191Ter	NC_000005.9:g.37046283A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6589+9A>T	25836	NIPBL	Uncertain significance	370709104	RCV000146694;	N	MedGen:CN029798,OMIM:122470	5	37046310	37046310	NM_133433.3:c.6589+9A>T		NC_000005.9:g.37046310A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6590-2A>C	25836	NIPBL	Pathogenic	587784016	RCV000146695;	N	MedGen:CN029798,OMIM:122470	5	37048602	37048602	NM_133433.3:c.6590-2A>C		NC_000005.9:g.37048602A>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6590G>A (p.Gly2197Glu)	25836	NIPBL	Pathogenic	587784017	RCV000146696;	N	MedGen:CN029798,OMIM:122470	5	37048604	37048604	NM_133433.3:c.6590G>A	NP_597677.2:p.Gly2197Glu	NC_000005.9:g.37048604G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6631G>T (p.Glu2211Ter)	25836	NIPBL	Pathogenic	80358363	RCV000086386;	N	MedGen:CN029798,OMIM:122470	5	37048645	37048645	NM_015384.4:c.6631G>T	NP_056199.2:p.Glu2211Ter	NC_000005.9:g.37048645G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6632_6634delAAG (p.Glu2211del)	25836	NIPBL	Likely pathogenic	587784019	RCV000146698;	N	MedGen:CN029798,OMIM:122470	5	37048646	37048648	NM_015384.4:c.6632_6634delAAG	NP_056199.2:p.Glu2211del	NC_000005.9:g.37048646_37048648delAAG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6641_6647delATCTATA (p.Asn2214Ilefs)	25836	NIPBL	Pathogenic	80358361	RCV000086387;	N	MedGen:CN029798,OMIM:122470	5	37048655	37048661	NM_015384.4:c.6641_6647delATCTATA	NP_056199.2:p.Asn2214Ilefs	NC_000005.9:g.37048655_37048661delATCTATA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6646T>C (p.Tyr2216His)	25836	NIPBL	Uncertain significance	587784020	RCV000146699;	N	MedGen:CN029798,OMIM:122470	5	37048660	37048660	NM_133433.3:c.6646T>C	NP_597677.2:p.Tyr2216His	NC_000005.9:g.37048660T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6648_6649delTA (p.Tyr2216Terfs)	25836	NIPBL	Pathogenic	587784021	RCV000146700;	N	MedGen:CN029798,OMIM:122470	5	37048662	37048663	NM_015384.4:c.6648_6649delTA	NP_056199.2:p.Tyr2216Terfs	NC_000005.9:g.37048662_37048663delTA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6653_6655delATA (p.Asn2218del)	25836	NIPBL	Pathogenic	587784022	RCV000146701;	N	MedGen:CN029798,OMIM:122470	5	37048667	37048669	NM_015384.4:c.6653_6655delATA	NP_056199.2:p.Asn2218del	NC_000005.9:g.37048667_37048669delATA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6701T>G (p.Leu2234Ter)	25836	NIPBL	Pathogenic	727504047	RCV000178016; RCV000153573;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	37048715	37048715	NM_015384.4:c.6701T>G	NP_056199.2:p.Leu2234Ter	NC_000005.9:g.37048715T>G	-	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_133433.3(NIPBL):c.6707A>T (p.Asn2236Ile)	25836	NIPBL	Pathogenic	587784023	RCV000146702;	N	MedGen:CN029798,OMIM:122470	5	37048721	37048721	NM_133433.3:c.6707A>T	NP_597677.2:p.Asn2236Ile	NC_000005.9:g.37048721A>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6707dupA (p.Asn2236Lysfs)	25836	NIPBL	Pathogenic	797045778	RCV000194372;	N	MedGen:CN029798,OMIM:122470	5	37048721	37048721	NM_015384.4:c.6707dupA	NP_056199.2:p.Asn2236Lysfs	NC_000005.9:g.37048721dupA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6800T>G (p.Met2267Arg)	25836	NIPBL	Likely pathogenic	797045779	RCV000192628;	N	MedGen:CN029798,OMIM:122470	5	37049249	37049249	NM_133433.3:c.6800T>G	NP_597677.2:p.Met2267Arg	NC_000005.9:g.37049249T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6811dupT (p.Ser2271Phefs)	25836	NIPBL	Pathogenic	797045780	RCV000193077;	N	MedGen:CN029798,OMIM:122470	5	37049260	37049260	NM_015384.4:c.6811dupT	NP_056199.2:p.Ser2271Phefs	NC_000005.9:g.37049260dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.6892C>G (p.Arg2298Gly)	25836	NIPBL	Pathogenic	80358376	RCV000086388;	N	MedGen:CN029798,OMIM:122470	5	37049341	37049341	NM_015384.4:c.6892C>G	NP_056199.2:p.Arg2298Gly	NC_000005.9:g.37049341C>G,NC_000005.9:g.37049341C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6892C>T (p.Arg2298Cys)	25836	NIPBL	Pathogenic	80358376	RCV000146704;	N	MedGen:CN029798,OMIM:122470	5	37049341	37049341	NM_133433.3:c.6892C>T	NP_597677.2:p.Arg2298Cys	NC_000005.9:g.37049341C>G,NC_000005.9:g.37049341C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6893G>A (p.Arg2298His)	25836	NIPBL	Pathogenic	587784024	RCV000146705;	N	MedGen:CN029798,OMIM:122470	5	37049342	37049342	NM_133433.3:c.6893G>A	NP_597677.2:p.Arg2298His	NC_000005.9:g.37049342G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6935G>T (p.Gly2312Val)	25836	NIPBL	Likely pathogenic	587784025	RCV000146706;	N	MedGen:CN029798,OMIM:122470	5	37049384	37049384	NM_133433.3:c.6935G>T	NP_597677.2:p.Gly2312Val	NC_000005.9:g.37049384G>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6952C>T (p.Gln2318Ter)	25836	NIPBL	Pathogenic	587784026	RCV000146707;	N	MedGen:CN029798,OMIM:122470	5	37049401	37049401	NM_133433.3:c.6952C>T	NP_597677.2:p.Gln2318Ter	NC_000005.9:g.37049401C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6954+1G>A	25836	NIPBL	Pathogenic	587784027	RCV000146708;	N	MedGen:CN029798,OMIM:122470	5	37049404	37049404	NM_133433.3:c.6954+1G>A		NC_000005.9:g.37049404G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.6993A>G (p.Glu2331=)	25836	NIPBL	Uncertain significance	587784028	RCV000146709;	N	MedGen:CN029798,OMIM:122470	5	37051919	37051919	NM_133433.3:c.6993A>G	NP_597677.2:p.Glu2331=	NC_000005.9:g.37051919A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7011_7012delGG (p.Lys2337Asnfs)	25836	NIPBL	Pathogenic	587784029	RCV000146710;	N	MedGen:CN029798,OMIM:122470	5	37051937	37051938	NM_015384.4:c.7011_7012delGG	NP_056199.2:p.Lys2337Asnfs	NC_000005.9:g.37051937_37051938delGG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro)	25836	NIPBL	Likely pathogenic	587784030	RCV000146711;	N	MedGen:CN029798,OMIM:122470	5	37051938	37051938	NM_133433.3:c.7012G>C	NP_597677.2:p.Ala2338Pro	NC_000005.9:g.37051938G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7024C>T (p.Leu2342Phe)	25836	NIPBL	Uncertain significance	587784031	RCV000146712;	N	MedGen:CN029798,OMIM:122470	5	37051950	37051950	NM_133433.3:c.7024C>T	NP_597677.2:p.Leu2342Phe	NC_000005.9:g.37051950C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7047T>G (p.Tyr2349Ter)	25836	NIPBL	Pathogenic	398124470	RCV000082500;	N	MedGen:CN029798,OMIM:122470	5	37051973	37051973	NM_015384.4:c.7047T>G	NP_056199.2:p.Tyr2349Ter	NC_000005.9:g.37051973T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7062+2T>C	25836	NIPBL	Pathogenic	587784032	RCV000146713;	N	MedGen:CN029798,OMIM:122470	5	37051990	37051990	NM_133433.3:c.7062+2T>C		NC_000005.9:g.37051990T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7102C>T (p.Gln2368Ter)	25836	NIPBL	Pathogenic	587784033	RCV000146714;	N	MedGen:CN029798,OMIM:122470	5	37052507	37052507	NM_133433.3:c.7102C>T	NP_597677.2:p.Gln2368Ter	NC_000005.9:g.37052507C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7106delA (p.Gln2369Argfs)	25836	NIPBL	Pathogenic	587784034	RCV000146715;	N	MedGen:CN029798,OMIM:122470	5	37052511	37052511	NM_015384.4:c.7106delA	NP_056199.2:p.Gln2369Argfs	NC_000005.9:g.37052511delA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7141G>A (p.Gly2381Ser)	25836	NIPBL	Likely pathogenic	587784035	RCV000146716;	N	MedGen:CN029798,OMIM:122470	5	37052546	37052546	NM_133433.3:c.7141G>A	NP_597677.2:p.Gly2381Ser	NC_000005.9:g.37052546G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr)	25836	NIPBL	Pathogenic	587784036	RCV000146717;	N	MedGen:CN029798,OMIM:122470	5	37052573	37052573	NM_133433.3:c.7168G>A	NP_597677.2:p.Ala2390Thr	NC_000005.9:g.37052573G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7198delC (p.Arg2400Valfs)	25836	NIPBL	Pathogenic	587784037	RCV000146718;	N	MedGen:CN029798,OMIM:122470	5	37052603	37052603	NM_015384.4:c.7198delC	NP_056199.2:p.Arg2400Valfs	NC_000005.9:g.37052603delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7219C>T (p.Arg2407Ter)	25836	NIPBL	Pathogenic	398124471	RCV000146719; RCV000082501;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	37052624	37052624	NM_133433.3:c.7219C>T	NP_597677.2:p.Arg2407Ter	NC_000005.9:g.37052624C>T	HGMD:CM073232	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_133433.3(NIPBL):c.7264-6T>G	25836	NIPBL	Pathogenic	587784038	RCV000146720;	N	MedGen:CN029798,OMIM:122470	5	37057282	37057282	NM_133433.3:c.7264-6T>G		NC_000005.9:g.37057282T>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7289A>G (p.Tyr2430Cys)	25836	NIPBL	Pathogenic	121918265	RCV000002222;	N	MedGen:CN029798,OMIM:122470	5	37057313	37057313	NM_015384.4:c.7289A>G	NP_056199.2:p.Tyr2430Cys	NC_000005.9:g.37057313A>G	OMIM Allelic Variant:608667.0002	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7301A>G (p.Asn2434Ser)	25836	NIPBL	Likely pathogenic	80358384	RCV000086389;	N	MedGen:CN029798,OMIM:122470	5	37057325	37057325	NM_133433.3:c.7301A>G	NP_597677.2:p.Asn2434Ser	NC_000005.9:g.37057325A>G	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7301_7308delATCTAGCCins13 (p.?)	25836	NIPBL	Pathogenic	797045782	RCV000193765;	N	MedGen:CN029798,OMIM:122470	5	37057325	37057332	NM_015384.4:c.7301_7308delATCTAGCCins13	NP_056199.2:p.?		-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7306G>A (p.Ala2436Thr)	25836	NIPBL	Likely pathogenic	587784039	RCV000146721;	N	MedGen:CN029798,OMIM:122470	5	37057330	37057330	NM_133433.3:c.7306G>A	NP_597677.2:p.Ala2436Thr	NC_000005.9:g.37057330G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7327C>T (p.Gln2443Ter)	25836	NIPBL	Pathogenic	80358370	RCV000086390;	N	MedGen:CN029798,OMIM:122470	5	37057351	37057351	NM_015384.4:c.7327C>T	NP_056199.2:p.Gln2443Ter	NC_000005.9:g.37057351C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7336_7338delCCG (p.Pro2446del)	25836	NIPBL	Likely pathogenic	587784040	RCV000146722;	N	MedGen:CN029798,OMIM:122470	5	37057360	37057362	NM_015384.4:c.7336_7338delCCG	NP_056199.2:p.Pro2446del	NC_000005.9:g.37057360_37057362delCCG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7348_7350delATG (p.Met2450del)	25836	NIPBL	Uncertain significance	587784041	RCV000146723;	N	MedGen:CN029798,OMIM:122470	5	37057372	37057374	NM_015384.4:c.7348_7350delATG	NP_056199.2:p.Met2450del	NC_000005.9:g.37057372_37057374delATG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7439_7440delGA (p.Arg2480Lysfs)	25836	NIPBL	Pathogenic	587784043	RCV000146725;	N	MedGen:CN029798,OMIM:122470	5	37059021	37059022	NM_015384.4:c.7439_7440delGA	NP_056199.2:p.Arg2480Lysfs	NC_000005.9:g.37059021_37059022delGA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7542_7547delTTCAGA (p.Asp2514_Ser2515del)	25836	NIPBL	Uncertain significance	587784044	RCV000146726;	N	MedGen:CN029798,OMIM:122470	5	37059124	37059129	NM_015384.4:c.7542_7547delTTCAGA	NP_056199.2:p.Asp2514_Ser2515del	NC_000005.9:g.37059124_37059129delTTCAGA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7625G>A (p.Gly2542Asp)	25836	NIPBL	Uncertain significance	587784045	RCV000146727;	N	MedGen:CN029798,OMIM:122470	5	37059207	37059207	NM_133433.3:c.7625G>A	NP_597677.2:p.Gly2542Asp	NC_000005.9:g.37059207G>A	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7637T>C (p.Leu2546Pro)	25836	NIPBL	Pathogenic	727503772	RCV000157048;	N	MedGen:CN029798,OMIM:122470	5	37059219	37059219	NM_015384.4:c.7637T>C	NP_056199.2:p.Leu2546Pro	NC_000005.9:g.37059219T>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7641C>T (p.Leu2547=)	25836	NIPBL	Uncertain significance	587784046	RCV000146728;	N	MedGen:CN029798,OMIM:122470	5	37059223	37059223	NM_133433.3:c.7641C>T	NP_597677.2:p.Leu2547=	NC_000005.9:g.37059223C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7701_7725del25 (p.Ser2568Metfs)	25836	NIPBL	Pathogenic	587784047	RCV000146729;	N	MedGen:CN029798,OMIM:122470	5	37060961	37060985	NM_015384.4:c.7701_7725del25	NP_056199.2:p.Ser2568Metfs	NC_000005.9:g.37060961_37060985del25	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7789delC (p.Leu2597Cysfs)	25836	NIPBL	Pathogenic	80358368	RCV000086392;	N	MedGen:CN029798,OMIM:122470	5	37061049	37061049	NM_015384.4:c.7789delC	NP_056199.2:p.Leu2597Cysfs	NC_000005.9:g.37061049delC	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7806dupT (p.Asn2603Terfs)	25836	NIPBL	Pathogenic	80358371	RCV000086393;	N	MedGen:CN029798,OMIM:122470	5	37061066	37061066	NM_015384.4:c.7806dupT	NP_056199.2:p.Asn2603Terfs	NC_000005.9:g.37061066dupT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7816dupA (p.Ile2606Asnfs)	25836	NIPBL	Pathogenic	797045783	RCV000194236;	N	MedGen:CN029798,OMIM:122470	5	37061076	37061076	NM_015384.4:c.7816dupA	NP_056199.2:p.Ile2606Asnfs	NC_000005.9:g.37061076dupA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7841_7842dupTA (p.Val2615Terfs)	25836	NIPBL	Pathogenic	797045784	RCV000192441;	N	MedGen:CN029798,OMIM:122470	5	37061101	37061102	NM_015384.4:c.7841_7842dupTA	NP_056199.2:p.Val2615Terfs	NC_000005.9:g.37061101_37061102dupTA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.7849C>T (p.Gln2617Ter)	25836	NIPBL	Pathogenic	587784050	RCV000146735;	N	MedGen:CN029798,OMIM:122470	5	37061109	37061109	NM_133433.3:c.7849C>T	NP_597677.2:p.Gln2617Ter	NC_000005.9:g.37061109C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7900_7937del38 (p.Glu2635Glnfs)	25836	NIPBL	Pathogenic	727503771	RCV000157047;	N	MedGen:CN029798,OMIM:122470	5	37063931	37063968	NM_015384.4:c.7900_7937del38	NP_056199.2:p.Glu2635Glnfs	NC_000005.9:g.37063931_37063968del38	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7912dupG (p.Glu2638Glyfs)	25836	NIPBL	Pathogenic	797045785	RCV000193652;	N	MedGen:CN029798,OMIM:122470	5	37063943	37063943	NM_015384.4:c.7912dupG	NP_056199.2:p.Glu2638Glyfs	NC_000005.9:g.37063943dupG	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_015384.4(NIPBL):c.7913dupA (p.Val2639Glyfs)	25836	NIPBL	Pathogenic	797045786	RCV000194911;	N	MedGen:CN029798,OMIM:122470	5	37063944	37063944	NM_015384.4:c.7913dupA	NP_056199.2:p.Val2639Glyfs	NC_000005.9:g.37063944dupA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8165_8183del19 (p.Pro2722Argfs)	25836	NIPBL	Pathogenic	587784052	RCV000146737;	N	MedGen:CN029798,OMIM:122470	5	37064744	37064762	NM_133433.3:c.8165_8183del19	NP_597677.2:p.Pro2722Argfs	NC_000005.9:g.37064744_37064762del19	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8173G>C (p.Ala2725Pro)	25836	NIPBL	Likely pathogenic	587784053	RCV000146738;	N	MedGen:CN029798,OMIM:122470	5	37064752	37064752	NM_133433.3:c.8173G>C	NP_597677.2:p.Ala2725Pro	NC_000005.9:g.37064752G>C	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8275_8276dupCT (p.Val2760Trpfs)	25836	NIPBL	Pathogenic	797045787	RCV000192755;	N	MedGen:CN029798,OMIM:122470	5	37064854	37064855	NM_133433.3:c.8275_8276dupCT	NP_597677.2:p.Val2760Trpfs	NC_000005.9:g.37064854_37064855dupCT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8277_8283delGGTGCCT (p.Val2760Glyfs)	25836	NIPBL	Pathogenic	587784055	RCV000146740;	N	MedGen:CN029798,OMIM:122470	5	37064856	37064862	NM_133433.3:c.8277_8283delGGTGCCT	NP_597677.2:p.Val2760Glyfs	NC_000005.9:g.37064856_37064862delGGTGCCT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu)	25836	NIPBL	Likely pathogenic	797045788	RCV000193586;	N	MedGen:CN029798,OMIM:122470	5	37064875	37064879	NM_133433.3:c.8296_8300delATTAAinsTT	NP_597677.2:p.Ile2766_Lys2767delinsLeu	NC_000005.9:g.37064875_37064879delATTAAinsTT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8300_8301delAA (p.Lys2767Argfs)	25836	NIPBL	Pathogenic	587784056	RCV000146741;	N	MedGen:CN029798,OMIM:122470	5	37064879	37064880	NM_133433.3:c.8300_8301delAA	NP_597677.2:p.Lys2767Argfs	NC_000005.9:g.37064879_37064880delAA	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8336C>T (p.Thr2779Met)	25836	NIPBL	Uncertain significance	587784057	RCV000146742;	N	MedGen:CN029798,OMIM:122470	5	37064915	37064915	NM_133433.3:c.8336C>T	NP_597677.2:p.Thr2779Met	NC_000005.9:g.37064915C>T	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8342_8348delCTAATAAinsATT (p.Ala2781Aspfs)	25836	NIPBL	Pathogenic	797045789	RCV000194810;	N	MedGen:CN029798,OMIM:122470	5	37064921	37064927	NM_133433.3:c.8342_8348delCTAATAAinsATT	NP_597677.2:p.Ala2781Aspfs	NC_000005.9:g.37064921_37064927delCTAATAAinsATT	-	CN029798 122470 Cornelia de Lange syndrome 1
NM_133433.3(NIPBL):c.8377C>T (p.Arg2793Ter)	25836	NIPBL	Pathogenic	398124474	RCV000146743; RCV000082504;	N	MedGen:CN029798,OMIM:122470; MedGen:CN221809	5	37064956	37064956	NM_133433.3:c.8377C>T	NP_597677.2:p.Arg2793Ter	NC_000005.9:g.37064956C>T	HGMD:CM107662	CN029798 122470 Cornelia de Lange syndrome 1; CN221809 not provided
NM_005641.3(TAF6):c.136C>T (p.Arg46Cys)	6878	TAF6	Pathogenic	727503778	RCV000157054;	N	MedGen:CN029798,OMIM:122470	7	99711697	99711697	NM_005641.3:c.136C>T	NP_005632.1:p.Arg46Cys	NC_000007.13:g.99711697G>A	-	CN029798 122470 Cornelia de Lange syndrome 1