MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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

MSeqDR Mitochondrial Disease Portal

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

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

Term ID:

7698

Name:

Mental Retardation, Autosomal Recessive 5

Definition:

Alternative IDs:

OMIM:611091

ParentIDs:

MESH:D008607

TreeNumbers:

C10.597.606.360/C567018 |C23.888.592.604.646/C567018 |F03.625.539/C567018

Synonyms:

MRT5

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C567018
MeSH: C567018
OMIM: 611091;
MSeqDR :
Genes: NSUN2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001771	Achilles tendon contracture	HP:0040283
3	HP:0000581	Blepharophimosis	HP:0040283
4	HP:0000750	Delayed speech and language development NAMDC: Delayed language
5	HP:0001260	Dysarthria NAMDC: Dysarthria
6	HP:0000964	Eczema	HP:0040283
7	HP:0003236	Elevated serum creatine phosphokinase	HP:0040283
8	HP:0001263	Global developmental delay NAMDC: Mental retardation
9	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
10	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11	HP:0000316	Hypertelorism	HP:0040283
12	HP:0000601	Hypotelorism
13	HP:0001249	Intellectual disability
14	HP:0000276	Long face
15	HP:0000252	Microcephaly
16	HP:0008936	Muscular hypotonia of the trunk
17	HP:0000275	Narrow face
18	HP:0001761	Pes cavus	HP:0040283
19	HP:0008897	Postnatal growth retardation
20	HP:0000426	Prominent nasal bridge	HP:0040283
21	HP:0000448	Prominent nose
22	HP:0001250	Seizures NAMDC: Seizures	HP:0040283
23	HP:0000331	Short chin
24	HP:0000322	Short philtrum
25	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
26	HP:0001518	Small for gestational age
27	HP:0000319	Smooth philtrum
28	HP:0008070	Sparse hair	HP:0040283
29	HP:0001257	Spasticity NAMDC: Spasticity	Late onset
30	HP:0000486	Strabismus
31	HP:0000664	Synophrys
32	HP:0000506	Telecanthus	HP:0040283
33	HP:0000574	Thick eyebrow
34	HP:0000215	Thick upper lip vermilion
35	HP:0000430	Underdeveloped nasal alae
36	HP:0000431	Wide nasal bridge	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_017755.6(NSUN2):c.*622T>A	54888	NSUN2	Uncertain significance	rs757183970	RCV001153734;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599417	6599417	5:g.6599417A>T	-
NM_017755.6(NSUN2):c.*619G>A	54888	NSUN2	Uncertain significance	rs1018606113	RCV001153735;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599420	6599420	5:g.6599420C>T	-
NM_017755.6(NSUN2):c.*581T>C	54888	NSUN2	Benign	rs142451419	RCV000271436;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599458	6599458	NC_000005.9:g.6599458A>G	ClinGen:CA10625066	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*563C>T	54888	NSUN2	Benign	rs374769713	RCV000328969;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599476	6599476	NC_000005.9:g.6599476G>A	ClinGen:CA10622072	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*532A>G	54888	NSUN2	Uncertain significance	rs1317432691	RCV001153736;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599507	6599507	5:g.6599507T>C	-
NM_017755.6(NSUN2):c.*389A>G	54888	NSUN2	Uncertain significance	rs780214753	RCV001156346;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599650	6599650	5:g.6599650T>C	-
NM_017755.6(NSUN2):c.*294C>G	54888	NSUN2	Uncertain significance	rs886060727	RCV000274779;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599745	6599745	NC_000005.9:g.6599745G>C	ClinGen:CA10620692	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*202C>T	54888	NSUN2	Uncertain significance	rs932103254	RCV001156347;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599837	6599837	5:g.6599837G>A	-
NM_017755.6(NSUN2):c.*140T>C	54888	NSUN2	Uncertain significance	rs564014439	RCV000332254;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599899	6599899	NC_000005.9:g.6599899A>G	ClinGen:CA10625071	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*99G>A	54888	NSUN2	Benign	rs3776448	RCV000389172\|RCV001718761;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6599940	6599940	NC_000005.9:g.6599940C>T	ClinGen:CA10620694	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*97C>A	54888	NSUN2	Uncertain significance	rs759455426	RCV001156348;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599942	6599942	5:g.6599942G>T	-
NM_017755.6(NSUN2):c.*85G>A	54888	NSUN2	Uncertain significance	rs1429279900	RCV001156349;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599954	6599954	5:g.6599954C>T	-
NM_017755.6(NSUN2):c.*50T>G	54888	NSUN2	Benign/Likely benign	rs56282400	RCV000278471\|RCV001584075;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6599989	6599989	NC_000005.9:g.6599989A>C	ClinGen:CA3192104	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*48C>T	54888	NSUN2	Uncertain significance	rs374381984	RCV000335542;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6599991	6599991	NC_000005.9:g.6599991G>A	ClinGen:CA3192105	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*17G>A	54888	NSUN2	Likely benign	rs201903423	RCV000373814;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6600022	6600022	NC_000005.9:g.6600022C>T	ClinGen:CA3192116	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.*16C>T	54888	NSUN2	Uncertain significance	rs368107079	RCV001158026;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6600023	6600023	5:g.6600023G>A	-
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs140673211	RCV000193914\|RCV000281579\|RCV000434232\|RCV002314837;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6600043	6600043	5:g.6600043C>T	ClinGen:CA207716	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2283G>A (p.Ala761=)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs752702755	RCV000339009\|RCV001861261;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6600060	6600060	NC_000005.9:g.6600060C>T	ClinGen:CA3192128	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val)	54888	NSUN2	Uncertain significance	rs375624381	RCV001158027\|RCV002445401\|RCV002558390;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	5	6600061	6600061	5:g.6600061G>A	-
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)	54888	NSUN2	Benign	rs61744358	RCV000117858\|RCV000396216\|RCV001668256\|RCV002312199;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6600064	6600064	5:g.6600064G>T	ClinGen:CA154170	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs149244771	RCV000193059\|RCV000304065\|RCV002057004\|RCV002317701;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6600071	6600071	5:g.6600071A>G	ClinGen:CA206293	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser)	54888	NSUN2	Uncertain significance	rs1736479408	RCV001152551;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6600089	6600089	5:g.6600089G>A	-
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)	54888	NSUN2	Benign	rs3822434	RCV000117856\|RCV000342691\|RCV001668255\|RCV002312197;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6600150	6600150	5:g.6600150G>A	ClinGen:CA154166	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs140467698	RCV000396213\|RCV001252086\|RCV002429315\|RCV002061290;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phen	5	6600155	6600155	NC_000005.9:g.6600155T>C	ClinGen:CA3192156	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)	54888	NSUN2	Benign/Likely benign	rs112951498	RCV000192762\|RCV000224138\|RCV000308319\|RCV002314835;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123	5	6600200	6600200	5:g.6600200C>T	ClinGen:CA205810	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs756450204	RCV000365320\|RCV000894926\|RCV002314077;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6600283	6600283	NC_000005.9:g.6600283C>T	ClinGen:CA3192192	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter)	54888	NSUN2	Uncertain significance	rs886060728	RCV000272943;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6600284	6600284	NC_000005.9:g.6600284G>A	ClinGen:CA10624864	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu)	54888	NSUN2	Uncertain significance	rs1736492714	RCV001333964;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6600298	6600298	6600298	-
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs150785220	RCV000311660\|RCV000914418\|RCV002311423;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6600300	6600300	NC_000005.9:g.6600300C>T	ClinGen:CA3192199	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg)	54888	NSUN2	Likely pathogenic	rs587776908	RCV000024358\|RCV001588826;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6600308	6600308	NC_000005.9:g.6600308C>T	OMIM:610916.0004,ClinGen:CA129884,UniProtKB:Q08J23#VAR_068530	C1970199 611091 Mental retardation, autosomal recessive 5;
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly)	54888	NSUN2	Uncertain significance	rs747908747	RCV001333963;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6600311	6600311	6600311	-
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile)	54888	NSUN2	not provided	rs773052587	RCV001249286;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6600317	6600317	5:g.6600317C>T	-
NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met)	54888	NSUN2	Uncertain significance	rs139224594	RCV001152552\|RCV001858998;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6600318	6600318	5:g.6600318G>C	-
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly)	54888	NSUN2	Uncertain significance	rs762093598	RCV000368611\|RCV002520380;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123	5	6600337	6600337	NC_000005.9:g.6600337T>C	ClinGen:CA3192211	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp)	54888	NSUN2	Likely pathogenic	-1	RCV001543353;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6604305	6604305	6604305	-
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile)	54888	NSUN2	Benign	rs2303708	RCV000276384\|RCV000953504\|RCV002311424;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6604329	6604329	NC_000005.9:g.6604329C>T	ClinGen:CA3192278,UniProtKB:Q08J23#VAR_032604	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.1818+4A>G	54888	NSUN2	Uncertain significance	rs1736685253	RCV001153836;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6604714	6604714	5:g.6604714T>C	-
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser)	54888	NSUN2	Uncertain significance	rs763793795	RCV001153837\|RCV002557309\|RCV002558333;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	5	6604756	6604756	5:g.6604756C>T	-
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=)	54888	NSUN2	Benign	rs13181449	RCV000117855\|RCV000333710\|RCV001527843\|RCV002312196;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6604787	6604787	5:g.6604787C>T	ClinGen:CA154164	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.1602-11G>T	54888	NSUN2	Benign	rs2303707	RCV000353525\|RCV001712338;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6605532	6605532	NC_000005.9:g.6605532C>A	ClinGen:CA3192375	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.1602-14G>C	54888	NSUN2	Conflicting interpretations of pathogenicity	rs771558713	RCV000261446\|RCV002058534;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6605535	6605535	NC_000005.9:g.6605535C>G	ClinGen:CA3192377	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.1602-17_1602-15del	54888	NSUN2	Benign/Likely benign	rs139131959	RCV000318971\|RCV001653700\|RCV002488785;	N	MedGen:CN239290\|MedGen:CN517202\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6605536	6605538	NC_000005.9:g.6605536_6605538del	ClinGen:CA3192376	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala)	54888	NSUN2	Uncertain significance	rs1736795903	RCV001333962;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6606940	6606940	6606940	-
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)	54888	NSUN2	Likely pathogenic	-1	RCV002283598;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6606968	6606968	6606967	-
NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)	54888	NSUN2	Uncertain significance	-1	RCV003131834;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6607344	6607344	NC_000005.9:g.6607344T>G	-
NM_017755.6(NSUN2):c.1458T>C (p.His486=)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs200925761	RCV000895959\|RCV001153838\|RCV001818709;	N	MedGen:CN517202\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN169374	5	6607363	6607363	5:g.6607363A>G	-
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs1055478673	RCV001156465\|RCV001558558\|RCV002318674;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6607399	6607399	NC_000005.9:g.6607399C>T	-
NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg)	54888	NSUN2	Uncertain significance	rs375923267	RCV001156466;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6609952	6609952	5:g.6609952T>C	-
NM_017755.6(NSUN2):c.1226+4A>T	54888	NSUN2	Uncertain significance	rs202085420	RCV000501109\|RCV001156467\|RCV002524239;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6611064	6611064	5:g.6611064T>A	ClinGen:CA3192519	CN169374 not specified;
NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr)	54888	NSUN2	Uncertain significance	rs766301739	RCV000376004;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6611081	6611081	NC_000005.9:g.6611081G>A	ClinGen:CA3192521	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)	54888	NSUN2	Pathogenic/Likely pathogenic	rs1377452635	RCV001332181;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6611129	6611129	6611129	-
NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter)	54888	NSUN2	Pathogenic	rs387907191	RCV000024356;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6611180	6611180	5:g.6611180G>A	ClinGen:CA129882,OMIM:610916.0002	C1970199 611091 Mental retardation, autosomal recessive 5;
NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu)	54888	NSUN2	Uncertain significance	rs1560975832	RCV000678284;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6611182	6611182	5:g.6611182C>T	-	C1970199 611091 Mental retardation, autosomal recessive 5;
NM_017755.5(NSUN2):c.1096del	54888	NSUN2	Pathogenic	-1	RCV001771716;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6611198	6611198	6611197	-
NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn)	54888	NSUN2	Uncertain significance	rs779298195	RCV000678283;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6611894	6611894	NC_000005.9:g.6611894C>T	-	C1970199 611091 Mental retardation, autosomal recessive 5;
NM_017755.6(NSUN2):c.1022-3C>T	54888	NSUN2	Uncertain significance	rs370183139	RCV001156468;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6611914	6611914	5:g.6611914G>A	-
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)	54888	NSUN2	Pathogenic	rs1579368865	RCV001027963\|RCV002221600;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6616841	6616841	5:g.6616841_6616841del	-
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs564938323	RCV000283863\|RCV000970304\|RCV002317851;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6616864	6616864	NC_000005.9:g.6616864C>T	ClinGen:CA3192602	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly)	54888	NSUN2	Uncertain significance	rs373663619	RCV001156469;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6616872	6616872	5:g.6616872G>C	-
NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly)	54888	NSUN2	Uncertain significance	rs1737229372	RCV001156470;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6616881	6616881	5:g.6616881T>C	-
NM_017755.6(NSUN2):c.953A>C (p.Tyr318Ser)	54888	NSUN2	Pathogenic	-1	RCV002305693;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6616908	6616908	6616908	-
NM_017755.6(NSUN2):c.914G>A (p.Arg305His)	54888	NSUN2	Uncertain significance	rs368030963	RCV001158128;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6616947	6616947	5:g.6616947C>T	-
NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala)	54888	NSUN2	Uncertain significance	rs373798103	RCV001158129;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6618091	6618091	5:g.6618091T>C	-
NM_017755.6(NSUN2):c.839dup (p.Asn280fs)	54888	NSUN2	Likely pathogenic	rs1579370234	RCV000984498;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6618113	6618114	5:g.6618113_6618114insT	-
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys)	54888	NSUN2	Uncertain significance	rs1456146368	RCV001333965;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6620267	6620267	6620267	-
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser)	54888	NSUN2	Uncertain significance	rs140003855	RCV000499708\|RCV001158130\|RCV002524241;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6620271	6620271	NC_000005.9:g.6620271C>T	ClinGen:CA3192680	CN169374 not specified;
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter)	54888	NSUN2	Pathogenic	rs387907190	RCV000024355\|RCV000624405;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123	5	6620355	6620355	5:g.6620355G>A	ClinGen:CA129880,OMIM:610916.0001	C0950123 Inborn genetic diseases;
NM_017755.6(NSUN2):c.622+7A>T	54888	NSUN2	Benign	rs16877704	RCV000117861\|RCV000322271\|RCV001668257;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6622122	6622122	5:g.6622122T>A	ClinGen:CA154174	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.615C>A (p.Pro205=)	54888	NSUN2	Uncertain significance	rs773951967	RCV001158131;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6622136	6622136	5:g.6622136G>T	-
NM_017755.6(NSUN2):c.604A>G (p.Met202Val)	54888	NSUN2	Uncertain significance	rs1737468532	RCV001332182;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6622147	6622147	6622147	-
NM_017755.6(NSUN2):c.538-1G>C	54888	NSUN2	Pathogenic	rs1560982564	RCV000030682;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6622214	6622214	NC_000005.9:g.6622214C>G	OMIM:610916.0005	C1970199 611091 Mental retardation, autosomal recessive 5;
NM_017755.6(NSUN2):c.538-11T>G	54888	NSUN2	Pathogenic	-1	RCV000024357;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6622224	6622224	NC_000005.9:g.6622224A>C	OMIM:610916.0003	C1970199 611091 Mental retardation, autosomal recessive 5;
NM_017755.6(NSUN2):c.537+9T>C	54888	NSUN2	Benign	rs116785933	RCV000379246\|RCV000946832;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6623318	6623318	NC_000005.9:g.6623318A>G	ClinGen:CA3192755	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.510G>A (p.Leu170=)	54888	NSUN2	Benign/Likely benign	rs144888290	RCV000287298\|RCV000959589\|RCV002311425;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6623354	6623354	NC_000005.9:g.6623354C>T	ClinGen:CA3192763	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.486A>G (p.Glu162=)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs147958833	RCV001152661\|RCV002312788\|RCV002532999;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	5	6623378	6623378	NC_000005.9:g.6623378T>C	-
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)	54888	NSUN2	Likely pathogenic	rs1579377990	RCV000991432;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6625711	6625712	5:g.6625711_6625712del	-
NM_017755.6(NSUN2):c.340G>A (p.Val114Ile)	54888	NSUN2	Uncertain significance	-1	RCV001725859;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6632005	6632005	6632005	-
NM_017755.6(NSUN2):c.258C>T (p.His86=)	54888	NSUN2	Conflicting interpretations of pathogenicity	rs141912087	RCV000344631\|RCV000501542\|RCV001555295\|RCV002317852;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN169374\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6632087	6632087	NC_000005.9:g.6632087G>A	ClinGen:CA3192861	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.255-4A>G	54888	NSUN2	Uncertain significance	rs201837443	RCV001152662;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6632094	6632094	5:g.6632094T>C	-
NM_017755.6(NSUN2):c.222C>T (p.Leu74=)	54888	NSUN2	Benign/Likely benign	rs138716662	RCV000193967\|RCV000973641\|RCV001152663\|RCV002314836;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123	5	6632744	6632744	NC_000005.9:g.6632744G>A	ClinGen:CA207810	CN169374 not specified;
NM_017755.6(NSUN2):c.138G>A (p.Lys46=)	54888	NSUN2	Uncertain significance	rs886060729	RCV000394760;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6632828	6632828	NC_000005.9:g.6632828C>T	ClinGen:CA10620705	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.123C>T (p.Ile41=)	54888	NSUN2	Benign/Likely benign	rs112327056	RCV000975062\|RCV001152664\|RCV002312791;	N	MedGen:CN517202\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123	5	6632843	6632843	NC_000005.9:g.6632843G>A	-
NM_017755.6(NSUN2):c.97-6C>T	54888	NSUN2	Benign	rs10076470	RCV000117862\|RCV000291095\|RCV001668258;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6632875	6632875	5:g.6632875G>A	ClinGen:CA154175	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.51G>A (p.Glu17=)	54888	NSUN2	Benign	rs10062086	RCV000117859\|RCV000348255\|RCV001647134\|RCV002312200;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6633042	6633042	5:g.6633042C>T	ClinGen:CA154172	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp)	54888	NSUN2	Benign	rs181415619	RCV000394781\|RCV000973366\|RCV002314078;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6633071	6633071	NC_000005.9:g.6633071G>A	ClinGen:CA3192963	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.21T>C (p.Gly7=)	54888	NSUN2	Benign/Likely benign	rs184594943	RCV000117857\|RCV000313436\|RCV001534079\|RCV002312198;	N	MedGen:CN169374\|MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	5	6633072	6633072	5:g.6633072A>G	ClinGen:CA154168	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.-13G>C	54888	NSUN2	Uncertain significance	rs558458633	RCV000370394;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616	5	6633105	6633105	NC_000005.9:g.6633105C>G	ClinGen:CA3192964	CN239290 Intellectual Disability, Recessive;
NM_017755.6(NSUN2):c.-27C>A	54888	NSUN2	Benign/Likely benign	rs190264173	RCV000398543\|RCV001578196;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MedGen:CN517202	5	6633119	6633119	5:g.6633119G>T	ClinGen:CA3192965	CN239290 Intellectual Disability, Recessive;
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)	8831	SYNGAP1	Pathogenic	rs1131692154	RCV000495902\|RCV000623941\|RCV001205064\|RCV001541131;	N	MONDO:MONDO:0012613,MedGen:C1970199,OMIM:611091, Orphanet:88616\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012960,MedGen:C2675473,OMIM:612621\|MedGen:CN517202	6	33400477	33400477	NC_000006.11:g.33400477C>T	ClinGen:CA363680472	C0950123 Inborn genetic diseases;

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