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: Cataract (D002386)
Parent Node: Hypogonadism (D007006)
Parent Node: Intellectual Disability (D008607)
..Starting node ..Martsolf syndrome (C536028)
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:

7457

Name:

Martsolf syndrome

Definition:

Alternative IDs:

OMIM:212720

ParentIDs:

MESH:D002386|MESH:D007006|MESH:D008607

TreeNumbers:

C10.597.606.360/C536028 |C11.510.245/C536028 |C19.391.482/C536028 |C23.888.592.604.646/C536028 |F03.625.539/C536028

Synonyms:

Cataract, mental retardation, hypogonadism |Cataract-Mental Retardation-Hypogonadism

Slim Mappings:

Endocrine system disease|Eye disease|Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536028
MeSH: C536028
OMIM: 212720;
MSeqDR :
Genes: RAB3GAP2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008388	Abnormal toenail morphology
3	HP:0000248	Brachycephaly
4	HP:0011300	Broad fingertip
5	HP:0000455	Broad nasal tip
6	HP:0001638	Cardiomyopathy
7	HP:0000518	Cataract NAMDC: Cataracts
8	HP:0001635	Congestive heart failure
9	HP:0000028	Cryptorchidism
10	HP:0005280	Depressed nasal bridge
11	HP:0000494	Downslanted palpebral fissures
12	HP:0000286	Epicanthus
13	HP:0008872	Feeding difficulties in infancy
14	HP:0000218	High palate
15	HP:0000044	Hypogonadotrophic hypogonadism NAMDC: Hypogonadotropic hypogonadism
16	HP:0000327	Hypoplasia of the maxilla
17	HP:0006887	Intellectual disability, progressive
18	HP:0010864	Intellectual disability, severe
19	HP:0002938	Lumbar hyperlordosis
20	HP:0001840	Metatarsus adductus
21	HP:0000252	Microcephaly
22	HP:0000347	Micrognathia
23	HP:0000054	Micropenis
24	HP:0000692	Misalignment of teeth
25	HP:0000768	Pectus carinatum
26	HP:0000767	Pectus excavatum
27	HP:0000358	Posteriorly rotated ears
28	HP:0008593	Prominent antitragus
29	HP:0004405	Prominent nipples
30	HP:0002205	Recurrent respiratory infections
31	HP:0010049	Short metacarpal
32	HP:0004279	Short palm
33	HP:0009803	Short phalanx of finger
34	HP:0000322	Short philtrum
35	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
36	HP:0001831	Short toe
37	HP:0003992	Slender ulna
38	HP:0001762	Talipes equinovarus
39	HP:0004684	Talipes valgus
40	HP:0002779	Tracheomalacia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter)	3730	ANOS1	Pathogenic	886039395	RCV000255172\|RCV001260298\|RCV002305475;	N	MedGen:CN517202\|MONDO:MONDO:0010635,MedGen:C1563719,OMIM:308700, Orphanet:478\|MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	X	8502453	8502453	NC_000023.10:g.8502453G>A	ClinGen:CA10588802
NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305667;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47422257	47422257	47422257	-
NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305668;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47422275	47422275	47422274	-
NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305669;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47422284	47422284	47422284	-
NM_004491.5(ARHGAP35):c.516del (p.Asn173fs)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305670;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47422447	47422447	47422446	-
NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305671;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47423730	47423733	47423729	-
NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305655;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47424497	47424497	47424497	-
NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305656;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47425215	47425218	47425215	-
NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305660;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47425499	47425500	47425498	-
NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp)	2909	ARHGAP35	Likely pathogenic	-1	RCV002305672;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47491269	47491269	47491269	-
NM_004491.5(ARHGAP35):c.3992C>T (p.Pro1331Leu)	2909	ARHGAP35	Uncertain significance	-1	RCV002305673;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47492888	47492888	47492888	-
NM_004491.5(ARHGAP35):c.4018G>A (p.Asp1340Asn)	2909	ARHGAP35	Likely benign	-1	RCV002305658;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47492914	47492914	47492914	-
NM_004491.5(ARHGAP35):c.4049G>A (p.Arg1350Gln)	2909	ARHGAP35	Uncertain significance	-1	RCV002305650;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47502573	47502573	47502573	-
NM_004491.5(ARHGAP35):c.4105C>G (p.His1369Asp)	2909	ARHGAP35	Uncertain significance	-1	RCV002305651;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47502629	47502629	47502629	-
NM_004491.5(ARHGAP35):c.4235T>C (p.Met1412Thr)	2909	ARHGAP35	Uncertain significance	-1	RCV002305652;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47503680	47503680	47503680	-
NM_004491.5(ARHGAP35):c.4240G>A (p.Ala1414Thr)	2909	ARHGAP35	Likely benign	-1	RCV002305653;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47503685	47503685	47503685	-
NM_004491.5(ARHGAP35):c.4255C>T (p.Arg1419Cys)	2909	ARHGAP35	Uncertain significance	-1	RCV002305657;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47503700	47503700	47503700	-
NM_004491.5(ARHGAP35):c.4297C>G (p.Pro1433Ala)	2909	ARHGAP35	Likely benign	-1	RCV002305654;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	19	47503742	47503742	47503742	-
NM_001030055.2(ARHGAP5):c.1504del (p.Tyr502fs)	394	ARHGAP5	Uncertain significance	-1	RCV002305661;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	14	32561374	32561374	32561373	-
NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs)	394	ARHGAP5	Likely pathogenic	-1	RCV002305659;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	14	32562239	32562240	32562239	-
NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys)	2260	FGFR1	Uncertain significance	-1	RCV002305662\|RCV003234588;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387\|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950, Orphanet:478	8	38271674	38271674	38271674	-
NM_178822.5(IGSF10):c.182G>A (p.Arg61His)	285313	IGSF10	Uncertain significance	-1	RCV002305663\|RCV003164325;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387\|MeSH:D030342,MedGen:C0950123	3	151176316	151176316	151176316	-
NM_175737.4(KLB):c.878A>T (p.Lys293Met)	152831	KLB	Uncertain significance	-1	RCV002305665;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	4	39435882	39435882	39435882	-
NM_175737.4(KLB):c.3086A>T (p.Lys1029Ile)	152831	KLB	Uncertain significance	-1	RCV002305664;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	4	39450257	39450257	39450257	-
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys)	25782	RAB3GAP2	Pathogenic	121434310	RCV000001894\|RCV001806998;	N	MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720, Orphanet:1387\|MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	1	220338075	220338075	1:g.220338075C>A	ClinGen:CA115207,OMIM:609275.0001	C0796037 212720 Martsolf syndrome;
NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter)	25782	RAB3GAP2	Pathogenic	2102859415	RCV001807415;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	1	220345320	220345320	220345320	OMIM:609275.0007
NM_012414.4(RAB3GAP2):c.2287_2291del (p.Ala762_Gly763insTer)	25782	RAB3GAP2	Likely pathogenic	-1	RCV002789979;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	1	220355618	220355622	NC_000001.10:g.220355620_220355624del	-
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro)	25782	RAB3GAP2	Uncertain significance	147587414	RCV000305586\|RCV000360343\|RCV002244745\|RCV002519495\|RCV002522107;	N	MONDO:MONDO:0013641,MedGen:C3280214,OMIM:614225, Orphanet:2510\|MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720, Orphanet:1387\|MONDO:MONDO:0013641,MedGen:C3280214,OMIM:614225, Orphanet:2510; MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387\|MeS	1	220357416	220357416	NC_000001.10:g.220357416A>G	ClinGen:CA1402546	C0796037 212720 Martsolf syndrome;
NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter)	25782	RAB3GAP2	Pathogenic	2102866096	RCV001807416;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	1	220357421	220357421	220357421	OMIM:609275.0008
NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys)	25782	RAB3GAP2	Uncertain significance	-1	RCV002471816;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	1	220364463	220364463	NC_000001.10:g.220364463C>G	-
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	25782	RAB3GAP2	Pathogenic/Likely pathogenic	587777167	RCV000087150\|RCV000850507\|RCV001807041;	N	MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720, Orphanet:1387\|MONDO:MONDO:0023910,MedGen:C0796037,OMIM:PS212720, Orphanet:1387; MONDO:MONDO:0013641,MedGen:C3280214,OMIM:614225, Orphanet:2510\|MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	1	220364621	220364621	NC_000001.10:g.220364621G>A	ClinGen:CA150652,OMIM:609275.0003	C0796037 212720 Martsolf syndrome;
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)	25782	RAB3GAP2	Uncertain significance	-1	RCV002471809\|RCV002571467\|RCV003234206;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	1	220383768	220383768	NC_000001.10:g.220383768T>C	-
NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln)	10371	SEMA3A	Uncertain significance	318240752	RCV000059791\|RCV002305443;	N	MedGen:CN517202\|MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	7	83590814	83590814	7:g.83590814C>T	ClinGen:CA220074,UniProtKB:Q14563#VAR_069205,UniProtKB/Swiss-Prot:VAR_069205	CN517202 not provided;
NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter)	10381	TUBB3	Uncertain significance	-1	RCV002305666;	N	MONDO:MONDO:8000008,MedGen:C5542298,OMIM:212720, Orphanet:1387	16	90001890	90001890	90001890	-

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