MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Intellectual Disability (D008607)
..Starting node ..De Lange Syndrome (D003635)
Child Nodes:
........Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay (C566206)
Sister Nodes:
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Acrodysostosis (C538179)
..Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations (C563429)
..AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency (C563876)
..Akesson syndrome (C535610)
..Al Gazali Aziz Salem syndrome (C535613)
..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:

3498

Name:

De Lange Syndrome

Definition:

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

Alternative IDs:

DO:DOID:11725|OMIM:122470|OMIM:300590|OMIM:610759|OMIM:614701

ParentIDs:

MESH:D000015|MESH:D008607|MESH:D025063

TreeNumbers:

C10.597.606.360.210 |C16.131.077.272 |C16.131.260.210 |C16.320.180.210

Synonyms:

Slim Mappings:

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

Reference:

MedGen: D003635
MeSH: D003635
OMIM: 300590;
MSeqDR :
Genes: NIPBL; RAD21; SMC1A; SMC3;

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0001419	X-linked recessive inheritance
3	HP:0000463	Anteverted nares
4	HP:0000248	Brachycephaly
5	HP:0001156	Brachydactyly
6	HP:0030084	Clinodactyly
7	HP:0100543	Cognitive impairment NAMDC: Cognitive delay
8	HP:0000965	Cutis marmorata
9	HP:0000494	Downslanted palpebral fissures
10	HP:0002714	Downturned corners of mouth
11	HP:0002020	Gastroesophageal reflux
12	HP:0001263	Global developmental delay NAMDC: Mental retardation
13	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
14	HP:0000218	High palate
15	HP:0002553	Highly arched eyebrow
16	HP:0001007	Hirsutism
17	HP:0001639	Hypertrophic cardiomyopathy NAMDC: Hypertrophic cardomyopathy	HP:0040283
18	HP:0001249	Intellectual disability
19	HP:0001511	Intrauterine growth retardation
20	HP:0002996	Limited elbow movement
21	HP:0000527	Long eyelashes
22	HP:0000294	Low anterior hairline
23	HP:0000252	Microcephaly
24	HP:0000347	Micrognathia
25	HP:0000341	Narrow forehead
26	HP:0002465	Poor speech
27	HP:0000426	Prominent nasal bridge
28	HP:0009623	Proximal placement of thumb
29	HP:0000508	Ptosis NAMDC: Ptosis
30	HP:0001250	Seizures NAMDC: Seizures	HP:0040283
31	HP:0001773	Short foot
32	HP:0000470	Short neck
33	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
34	HP:0200055	Small hand
35	HP:0000319	Smooth philtrum
36	HP:0000664	Synophrys
37	HP:0000574	Thick eyebrow
38	HP:0000219	Thin upper lip vermilion
39	HP:0002119	Ventriculomegaly

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_53276131)_(53449569_?)dup	-1	IQSEC2;SMC1A	Uncertain significance	-1	RCV001032472\|RCV001372178;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|Gene:170530,MONDO:MONDO:0010656,MedGen:C2931498,OMIM:309530, Orphanet:777	X	53276131	53449569	-1	-
NC_000023.10:g.(?_53222149)_(55057617_?)del	8243	SMC1A	Pathogenic	-1	RCV003109486;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53222149	55057617		-
NC_000023.10:g.(?_53349595)_(53410194_?)dup	8243	SMC1A	Uncertain significance	-1	RCV000707763;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53349595	53410194		-	C2931498 300551 Mental retardation, X-linked 1;
NC_000023.10:g.(?_53349605)_(53410184_?)dup	8243	SMC1A	Uncertain significance	-1	RCV001323425;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53349605	53410184	-1	-
NC_000023.10:g.(?_53349615)_(53410174_?)dup	8243	SMC1A	Uncertain significance	-1	RCV000708248;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53349615	53410174		-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.*5946C>T	8243	SMC1A	Uncertain significance	972532010	RCV001166985;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401078	53401078	X:g.53401078G>A	-
NM_006306.4(SMC1A):c.*5915T>C	8243	SMC1A	Uncertain significance	1057515951	RCV000296125;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401109	53401109	X:g.53401109A>G	ClinGen:CA10646281	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*5855G>T	8243	SMC1A	Uncertain significance	1289923605	RCV001166986;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401169	53401169	X:g.53401169C>A	-
NM_006306.4(SMC1A):c.*5853A>G	8243	SMC1A	Uncertain significance	2075551728	RCV001166987;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401171	53401171	X:g.53401171T>C	-
NM_006306.4(SMC1A):c.*5722A>T	8243	SMC1A	Uncertain significance	2075552232	RCV001166988;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401302	53401302	X:g.53401302T>A	-
NM_006306.4(SMC1A):c.*5692G>A	8243	SMC1A	Uncertain significance	1057515952	RCV000343963;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401332	53401332	X:g.53401332C>T	ClinGen:CA10646283	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*5506A>T	8243	SMC1A	Uncertain significance	2075553176	RCV001166989;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401518	53401518	X:g.53401518T>A	-
NM_006306.4(SMC1A):c.*5489G>T	8243	SMC1A	Conflicting interpretations of pathogenicity	1007398058	RCV001168695\|RCV003438709;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53401535	53401535	X:g.53401535C>A	-
NM_006306.4(SMC1A):c.*5481G>A	8243	SMC1A	Benign	147896900	RCV000401379;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401543	53401543	X:g.53401543C>T	ClinGen:CA10646292	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*5451A>G	8243	SMC1A	Uncertain significance	782308559	RCV001168696;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401573	53401573	X:g.53401573T>C	-
NM_006306.4(SMC1A):c.*5444G>A	8243	SMC1A	Benign	181871602	RCV000308965;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401580	53401580	X:g.53401580C>T	ClinGen:CA10654359	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*5443C>G	8243	SMC1A	Uncertain significance	375348750	RCV001168697;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401581	53401581	X:g.53401581G>C	-
NM_006306.4(SMC1A):c.*5355G>A	8243	SMC1A	Uncertain significance	782143840	RCV000407573;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401669	53401669	NC_000023.10:g.53401669C>T	ClinGen:CA10654360	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*5352C>T	8243	SMC1A	Uncertain significance	1057515953	RCV000302908;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401672	53401672	NC_000023.10:g.53401672G>A	ClinGen:CA10646297	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*5251G>T	8243	SMC1A	Uncertain significance	188308804	RCV001169465;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401773	53401773	X:g.53401773C>A	-
NM_006306.4(SMC1A):c.*5197T>C	8243	SMC1A	Uncertain significance	782050365	RCV000360036;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401827	53401827	NC_000023.10:g.53401827A>G	ClinGen:CA10646300	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*5051G>T	8243	SMC1A	Uncertain significance	2075555081	RCV001169466;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53401973	53401973	X:g.53401973C>A	-
NM_006306.4(SMC1A):c.*5016T>C	8243	SMC1A	Benign	17002602	RCV000267480;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53402008	53402008	NC_000023.10:g.53402008A>G	ClinGen:CA10653998	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*4998T>C	8243	SMC1A	Uncertain significance	899071356	RCV001169467;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53402026	53402026	X:g.53402026A>G	-
NM_006306.4(SMC1A):c.*4887T>C	8243	SMC1A	Benign	142173620	RCV001169468;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53402137	53402137	X:g.53402137A>G	-
NM_006306.4(SMC1A):c.*4581T>C	8243	SMC1A	Uncertain significance	1057515955	RCV000261703;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53402443	53402443	NC_000023.10:g.53402443A>G	ClinGen:CA10651999	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*4443G>A	8243	SMC1A	Uncertain significance	782630117	RCV000319257;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53402581	53402581	NC_000023.10:g.53402581C>T	ClinGen:CA10646307	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*4382A>G	8243	SMC1A	Conflicting interpretations of pathogenicity	906340789	RCV000386222\|RCV003437155;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53402642	53402642	NC_000023.10:g.53402642T>C	ClinGen:CA10652000	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*4367T>C	8243	SMC1A	Uncertain significance	1003358509	RCV001166523\|RCV003438700;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53402657	53402657	X:g.53402657A>G	-
NM_006306.4(SMC1A):c.*4156A>G	8243	SMC1A	Uncertain significance	999754790	RCV001166524;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53402868	53402868	X:g.53402868T>C	-
NM_006306.4(SMC1A):c.*4087G>A	8243	SMC1A	Uncertain significance	1057515957	RCV000275366;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53402937	53402937	NC_000023.10:g.53402937C>T	ClinGen:CA10654004	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*3851A>T	8243	SMC1A	Benign	782817464	RCV000332914;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403173	53403173	NC_000023.10:g.53403173T>A	ClinGen:CA10654362	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*3807G>A	8243	SMC1A	Uncertain significance	1057515958	RCV000288481;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403217	53403217	NC_000023.10:g.53403217C>T	ClinGen:CA10652002	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*3777C>G	8243	SMC1A	Uncertain significance	41315082	RCV000345829;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403247	53403247	NC_000023.10:g.53403247G>C	ClinGen:CA10646313	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*3671C>T	8243	SMC1A	Uncertain significance	1057515959	RCV000384093;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403353	53403353	NC_000023.10:g.53403353G>A	ClinGen:CA10652005	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*3596C>T	8243	SMC1A	Uncertain significance	2075560234	RCV001167040;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403428	53403428	X:g.53403428G>A	-
NM_006306.4(SMC1A):c.*3484G>A	8243	SMC1A	Uncertain significance	1215730078	RCV001167041;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403540	53403540	X:g.53403540C>T	-
NM_006306.4(SMC1A):c.*3421G>T	8243	SMC1A	Benign	41304780	RCV000291567;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403603	53403603	NC_000023.10:g.53403603C>A	ClinGen:CA10646318	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*3392T>C	8243	SMC1A	Uncertain significance	2075561045	RCV001168753;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403632	53403632	X:g.53403632A>G	-
NM_006306.4(SMC1A):c.*3305A>G	8243	SMC1A	Uncertain significance	1057515960	RCV000340069;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403719	53403719	NC_000023.10:g.53403719T>C	ClinGen:CA10654363	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*3087G>A	8243	SMC1A	Likely benign	782024964	RCV001168754;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403937	53403937	X:g.53403937C>T	-
NM_006306.4(SMC1A):c.*3025C>T	8243	SMC1A	Uncertain significance	782139355	RCV001168755;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53403999	53403999	X:g.53403999G>A	-
NM_006306.4(SMC1A):c.*2948G>T	8243	SMC1A	Conflicting interpretations of pathogenicity	183355603	RCV000304927\|RCV002512101;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53404076	53404076	NC_000023.10:g.53404076C>A	ClinGen:CA10654364	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2936C>T	8243	SMC1A	Uncertain significance	782494133	RCV001168756;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404088	53404088	X:g.53404088G>A	-
NM_006306.4(SMC1A):c.*2856A>T	8243	SMC1A	Benign	148128199	RCV000343474;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404168	53404168	NC_000023.10:g.53404168T>A	ClinGen:CA10654365	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2663C>T	8243	SMC1A	Uncertain significance	1057515961	RCV000407953;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404361	53404361	NC_000023.10:g.53404361G>A	ClinGen:CA10654366	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2609A>C	8243	SMC1A	Conflicting interpretations of pathogenicity	192734396	RCV000298907\|RCV003437156;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53404415	53404415	NC_000023.10:g.53404415T>G	ClinGen:CA10646323	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2490T>C	8243	SMC1A	Uncertain significance	1057515962	RCV000312235;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404534	53404534	NC_000023.10:g.53404534A>G	ClinGen:CA10654367	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2435T>G	8243	SMC1A	Uncertain significance	782650092	RCV000369305;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404589	53404589	NC_000023.10:g.53404589A>C	ClinGen:CA10652007	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2423G>A	8243	SMC1A	Benign	147324052	RCV000276889;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404601	53404601	NC_000023.10:g.53404601C>T	ClinGen:CA10646324	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2389G>T	8243	SMC1A	Benign	114329529	RCV001165507;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404635	53404635	X:g.53404635C>A	-
NM_006306.4(SMC1A):c.*2225G>A	8243	SMC1A	Uncertain significance	1047323522	RCV000324908;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404799	53404799	NC_000023.10:g.53404799C>T	ClinGen:CA10646329	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*2086T>C	8243	SMC1A	Uncertain significance	1173339282	RCV001165508;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404938	53404938	X:g.53404938A>G	-
NM_006306.4(SMC1A):c.*2050T>C	8243	SMC1A	Uncertain significance	1057515964	RCV000382092;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53404974	53404974	X:g.53404974A>G	ClinGen:CA10646330	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*1967C>T	8243	SMC1A	Uncertain significance	2075567451	RCV001165509;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405057	53405057	X:g.53405057G>A	-
NM_006306.4(SMC1A):c.*1961C>T	8243	SMC1A	Uncertain significance	986586627	RCV000271262;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405063	53405063	X:g.53405063G>A	ClinGen:CA10646336	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*1934T>C	8243	SMC1A	Uncertain significance	1311438037	RCV001167108;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405090	53405090	X:g.53405090A>G	-
NM_006306.4(SMC1A):c.*1914A>G	8243	SMC1A	Uncertain significance	964056946	RCV001167109;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405110	53405110	X:g.53405110T>C	-
NM_006306.4(SMC1A):c.*1559G>A	8243	SMC1A	Uncertain significance	782736361	RCV000328546;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405465	53405465	X:g.53405465C>T	ClinGen:CA10646338	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*1542T>C	8243	SMC1A	Benign	781783328	RCV001167110;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405482	53405482	X:g.53405482A>G	-
NM_006306.4(SMC1A):c.*1240A>G	8243	SMC1A	Uncertain significance	1057515966	RCV000376260;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405784	53405784	X:g.53405784T>C	ClinGen:CA10652010	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*1239T>C	8243	SMC1A	Benign	782502306	RCV000284258;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405785	53405785	X:g.53405785A>G	ClinGen:CA10654018	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*1040G>A	8243	SMC1A	Uncertain significance	79382603	RCV001167111;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405984	53405984	X:g.53405984C>T	-
NM_006306.4(SMC1A):c.*1028C>T	8243	SMC1A	Uncertain significance	1057515967	RCV000341573;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53405996	53405996	X:g.53405996G>A	ClinGen:CA10654368	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*931A>G	8243	SMC1A	Benign	782237045	RCV001167687;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406093	53406093	X:g.53406093T>C	-
NM_006306.4(SMC1A):c.*703G>T	8243	SMC1A	Uncertain significance	189126241	RCV000278456;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406321	53406321	X:g.53406321C>A	ClinGen:CA10646343	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*675A>G	8243	SMC1A	Uncertain significance	1415804526	RCV001167688;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406349	53406349	X:g.53406349T>C	-
NM_006306.4(SMC1A):c.*665A>G	8243	SMC1A	Uncertain significance	1057515969	RCV000335882;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406359	53406359	X:g.53406359T>C	ClinGen:CA10654024	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*626A>G	8243	SMC1A	Uncertain significance	1057515970	RCV000399341;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406398	53406398	X:g.53406398T>C	ClinGen:CA10654027	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*578C>T	8243	SMC1A	Uncertain significance	782042924	RCV001167689;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406446	53406446	X:g.53406446G>A	-
NM_006306.4(SMC1A):c.*488A>G	8243	SMC1A	Uncertain significance	956422392	RCV001167690;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406536	53406536	X:g.53406536T>C	-
NM_006306.4(SMC1A):c.*381A>G	8243	SMC1A	Uncertain significance	184957599	RCV000302165;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406643	53406643	X:g.53406643T>C	ClinGen:CA10654369	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.*41G>A	8243	SMC1A	Uncertain significance	782548345	RCV000307952;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53406983	53406983	X:g.53406983C>T	ClinGen:CA10420227	CN239271 Cornelia de Lange Syndrome;
NC_000023.10:g.(?_53407004)_(53449569_?)dup	8243	SMC1A	Uncertain significance	-1	RCV001032583;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407004	53449569	-1	-
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser)	8243	SMC1A	Conflicting interpretations of pathogenicity	782012594	RCV002312396\|RCV002532991;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407034	53407034	NC_000023.10:g.53407034T>C	-
NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=)	8243	SMC1A	Likely benign	-1	RCV003009508;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407039	53407039		-
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu)	8243	SMC1A	Benign	782063495	RCV001520176;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407043	53407043	X:g.53407043G>A	-
NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=)	8243	SMC1A	Likely benign	28997583	RCV000552905\|RCV001731759;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53407063	53407063	NC_000023.10:g.53407063G>A	ClinGen:CA10420236	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del)	8243	SMC1A	Likely pathogenic	1569351341	RCV000698600;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407063	53407074	X:g.53407063_53407074del	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=)	8243	SMC1A	Likely benign	28997583	RCV001413315;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407063	53407063	53407063	-
NM_006306.4(SMC1A):c.3661A>G (p.Thr1221Ala)	8243	SMC1A	Uncertain significance	2146580992	RCV002011762;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407065	53407065	53407065	-
NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=)	8243	SMC1A	Likely benign	1348100944	RCV001496409;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407066	53407066	53407066	-
NM_006306.4(SMC1A):c.3655_3656insCCG (p.Phe1218_Asp1219insAla)	8243	SMC1A	Uncertain significance	2075576498	RCV001342020;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407070	53407071	53407070	-
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=)	8243	SMC1A	Likely benign	2146581010	RCV001433930;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407075	53407075	53407075	-
NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=)	8243	SMC1A	Likely benign	1313105752	RCV002193506;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407099	53407099	53407099	-
NM_006306.4(SMC1A):c.3625G>A (p.Asp1209Asn)	8243	SMC1A	Uncertain significance	-1	RCV002996944;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407101	53407101	NC_000023.10:g.53407101C>T	-
NM_006306.4(SMC1A):c.3621A>G (p.Gln1207=)	8243	SMC1A	Uncertain significance	2146581022	RCV001977446;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407105	53407105	53407105	-
NM_006306.4(SMC1A):c.3619-14C>T	8243	SMC1A	Benign	782732704	RCV002175238;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407121	53407121	53407121	-
NM_006306.4(SMC1A):c.3619-16C>T	8243	SMC1A	Likely benign	1556885717	RCV002170807;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407123	53407123	53407123	-
NM_006306.4(SMC1A):c.3618+8G>A	8243	SMC1A	Likely benign	782319907	RCV001436342;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407533	53407533	53407533	-
NM_006306.4(SMC1A):c.3618+7C>T	8243	SMC1A	Likely benign	782267492	RCV000503161\|RCV000816440;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407534	53407534	NC_000023.10:g.53407534G>A	ClinGen:CA10420254	CN169374 not specified;
NM_006306.4(SMC1A):c.3611A>T (p.Tyr1204Phe)	8243	SMC1A	Uncertain significance	781998306	RCV000823634;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407548	53407548	X:g.53407548T>A	-
NM_006306.4(SMC1A):c.3592G>C (p.Glu1198Gln)	8243	SMC1A	Uncertain significance	782175064	RCV000541696;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407567	53407567	X:g.53407567C>G	ClinGen:CA413241898	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)	8243	SMC1A	Conflicting interpretations of pathogenicity	782175064	RCV001194642;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407567	53407567	X:g.53407567C>T	-
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=)	8243	SMC1A	Benign/Likely benign	146216425	RCV000081385\|RCV000639419\|RCV001556204;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53407568	53407568	X:g.53407568G>A	ClinGen:CA148481	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=)	8243	SMC1A	Likely benign	146216425	RCV001392092;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407568	53407568	53407568	-
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=)	8243	SMC1A	Likely benign	138015913	RCV001302704;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407589	53407589	53407589	-
NM_006306.4(SMC1A):c.3568A>C (p.Lys1190Gln)	8243	SMC1A	Likely pathogenic	1057524798	RCV002272820;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407591	53407591	53407591	-
NM_006306.4(SMC1A):c.3559A>G (p.Ile1187Val)	8243	SMC1A	Uncertain significance	2146581303	RCV001956632;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407600	53407600	53407600	-
NM_006306.4(SMC1A):c.3557T>C (p.Val1186Ala)	8243	SMC1A	Likely pathogenic	587784419	RCV000147568;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407602	53407602	X:g.53407602A>G	ClinGen:CA272578	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)	8243	SMC1A	Likely benign	2146581314	RCV001403561\|RCV002499859;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407604	53407604	53407604	-
NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)	8243	SMC1A	Pathogenic	863225459	RCV000202430\|RCV001072125;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53407606	53407607	X:g.53407606_53407607insGGCC	ClinGen:CA277857,OMIM:300040.0009	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3549G>A (p.Gln1183=)	8243	SMC1A	Likely benign	2146581326	RCV002203575;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407610	53407610	53407610	-
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)	8243	SMC1A	Conflicting interpretations of pathogenicity	782763816	RCV001169562\|RCV002339421\|RCV003438713;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	X	53407625	53407625	X:g.53407625C>G	-
NM_006306.4(SMC1A):c.3533C>T (p.Ser1178Leu)	8243	SMC1A	Uncertain significance	-1	RCV002302414;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407626	53407626	53407626	-
NM_006306.4(SMC1A):c.3508-2A>G	8243	SMC1A	Likely pathogenic	2146581345	RCV001969436;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407653	53407653	53407653	-
NM_006306.4(SMC1A):c.3508-6C>T	8243	SMC1A	Likely benign	-1	RCV002846192;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407657	53407657	NC_000023.10:g.53407657G>A	-
NM_006306.4(SMC1A):c.3508-13G>T	8243	SMC1A	Likely benign	-1	RCV002610102;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407664	53407664	NC_000023.10:g.53407664C>A	-
NM_006306.4(SMC1A):c.3508-15C>T	8243	SMC1A	Benign	-1	RCV002770633;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407666	53407666	NC_000023.10:g.53407666G>A	-
NM_006306.4(SMC1A):c.3508-20C>T	8243	SMC1A	Likely benign	-1	RCV002662409;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407671	53407671	NC_000023.10:g.53407671G>A	-
NM_006306.4(SMC1A):c.3507+5G>A	8243	SMC1A	Uncertain significance	-1	RCV003226057;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407934	53407934		-
NM_006306.4(SMC1A):c.3507+3G>A	8243	SMC1A	Uncertain significance	1556885809	RCV000639416;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407936	53407936	NC_000023.10:g.53407936C>T	ClinGen:CA658799758	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser)	8243	SMC1A	Conflicting interpretations of pathogenicity	1556885810	RCV000624551\|RCV002531886;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407949	53407949	X:g.53407949T>C	ClinGen:CA413242604	C0950123 Inborn genetic diseases;
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr)	8243	SMC1A	Pathogenic	1556885810	RCV000995878;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407949	53407949	X:g.53407949T>G	-
NM_006306.4(SMC1A):c.3490A>G (p.Asn1164Asp)	8243	SMC1A	Likely pathogenic	868961188	RCV001265654;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407956	53407956	X:g.53407956T>C	-
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu)	8243	SMC1A	Uncertain significance	1556885815	RCV000626093\|RCV002477367;	N	MedGen:CN169374\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407978	53407978	X:g.53407978A>C	ClinGen:CA413242687	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=)	8243	SMC1A	Likely benign	781977704	RCV001491599;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407983	53407983	53407983	-
NM_006306.4(SMC1A):c.3461T>A (p.Val1154Asp)	8243	SMC1A	Likely pathogenic	1569351534	RCV000703292;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407985	53407985	NC_000023.10:g.53407985A>T	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3460G>A (p.Val1154Ile)	8243	SMC1A	Uncertain significance	782084021	RCV001059994;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53407986	53407986	X:g.53407986C>T	-
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=)	8243	SMC1A	Benign/Likely benign	142611198	RCV000147567\|RCV000639418\|RCV001651004\|RCV002312976\|RCV002505132;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53407996	53407996	X:g.53407996G>A	ClinGen:CA173515	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=)	8243	SMC1A	Likely benign	142611198	RCV002152752\|RCV002480972;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53407996	53407996	53407996	-
NM_006306.4(SMC1A):c.3438-3C>T	8243	SMC1A	Benign/Likely benign	782161734	RCV001561791\|RCV002072131;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53408011	53408011	53408011	-
NM_006306.4(SMC1A):c.3438-7C>T	8243	SMC1A	Benign/Likely benign	782796392	RCV000938988\|RCV001288777\|RCV002502874\|RCV002454145;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044\|MeSH:D030342,MedGen:C0950123	X	53408015	53408015	X:g.53408015G>A	-
NM_006306.4(SMC1A):c.3438-12G>T	8243	SMC1A	Likely benign	2146581650	RCV002215419;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53408020	53408020	53408020	-
NM_006306.4(SMC1A):c.3438-18C>T	8243	SMC1A	Benign/Likely benign	781873202	RCV002107538\|RCV002499961;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53408026	53408026	53408026	-
NM_006306.4(SMC1A):c.3437+12C>A	8243	SMC1A	Likely benign	2146582406	RCV002170620;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409141	53409141	53409141	-
NM_006306.4(SMC1A):c.3437+10A>T	8243	SMC1A	Likely benign	782079503	RCV001422556;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409143	53409143	X:g.53409143T>A	-
NM_006306.4(SMC1A):c.3437+1G>A	8243	SMC1A	Likely pathogenic	2146582412	RCV002025846;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409152	53409152	53409152	-
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=)	8243	SMC1A	Likely benign	374246357	RCV000821652\|RCV000999450\|RCV002453891;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	53409200	53409200	X:g.53409200G>A	-
NM_006306.4(SMC1A):c.3373A>G (p.Met1125Val)	8243	SMC1A	Likely pathogenic	1057519499	RCV000416533;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409217	53409217	X:g.53409217T>C	ClinGen:CA16044282	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3367C>T (p.Arg1123Trp)	8243	SMC1A	Pathogenic	2146582432	RCV001951468;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409223	53409223	53409223	-
NM_006306.4(SMC1A):c.3362G>A (p.Arg1121His)	8243	SMC1A	Pathogenic	2075586377	RCV001270858\|RCV001565382;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53409228	53409228	X:g.53409228C>T	-
NM_006306.4(SMC1A):c.3344G>T (p.Cys1115Phe)	8243	SMC1A	Likely pathogenic	2146582443	RCV001379576;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409246	53409246	53409246	-
NM_006306.4(SMC1A):c.3344G>A (p.Cys1115Tyr)	8243	SMC1A	Likely pathogenic	2146582443	RCV001378227;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409246	53409246	53409246	-
NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=)	8243	SMC1A	Likely benign	797045994	RCV002180577;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409284	53409284	53409284	-
NM_006306.4(SMC1A):c.3305A>G (p.Asn1102Ser)	8243	SMC1A	Uncertain significance	2146582465	RCV001975460;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409285	53409285	53409285	-
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr)	8243	SMC1A	Uncertain significance	1131692271	RCV000496004;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409300	53409300	X:g.53409300A>T	ClinGen:CA413243671	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3286-4C>T	8243	SMC1A	Likely benign	1556885985	RCV000976783;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409308	53409308	X:g.53409308G>A	-
NM_006306.4(SMC1A):c.3286-4del	8243	SMC1A	Benign	782700135	RCV002112015;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409308	53409308	53409307	-
NM_006306.4(SMC1A):c.3286-7C>T	8243	SMC1A	Likely benign	782657390	RCV002155325;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409311	53409311	53409311	-
NM_006306.4(SMC1A):c.3285+4G>A	8243	SMC1A	Benign	1459975526	RCV002156685;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409423	53409423	53409423	-
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=)	8243	SMC1A	Likely benign	368345004	RCV001467524;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409445	53409445	53409445	-
NM_006306.4(SMC1A):c.3255T>A (p.Tyr1085Ter)	8243	SMC1A	Pathogenic	-1	RCV003029362;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409457	53409457	NC_000023.10:g.53409457A>T	-
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)	8243	SMC1A	Pathogenic/Likely pathogenic	587784418	RCV000147566;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409458	53409458	X:g.53409458T>C	ClinGen:CA272574,UniProtKB:Q14683#VAR_062801	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)	8243	SMC1A	Conflicting interpretations of pathogenicity	587784417	RCV000147565;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409460	53409460	X:g.53409460G>A	ClinGen:CA272569	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3252C>G (p.Ile1084Met)	8243	SMC1A	Uncertain significance	587784417	RCV001340060;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409460	53409460	53409460	-
NM_006306.4(SMC1A):c.3249dup (p.Ile1084fs)	8243	SMC1A	Pathogenic	2075587887	RCV001060696;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409462	53409463	X:g.53409462_53409463insC	-
NM_006306.4(SMC1A):c.3235A>G (p.Thr1079Ala)	8243	SMC1A	Uncertain significance	1602398590	RCV000811425;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409477	53409477	X:g.53409477T>C	-
NM_006306.4(SMC1A):c.3227C>T (p.Ser1076Phe)	8243	SMC1A	Uncertain significance	2146582586	RCV001366494;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409485	53409485	53409485	-
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly)	8243	SMC1A	Likely benign	782241632	RCV001364692;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409497	53409497	53409497	-
NM_006306.4(SMC1A):c.3212A>G (p.Asn1071Ser)	8243	SMC1A	Uncertain significance	-1	RCV002939027;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409500	53409500	NC_000023.10:g.53409500T>C	-
NM_006306.4(SMC1A):c.3205C>T (p.Arg1069Cys)	8243	SMC1A	Likely benign	2075588188	RCV001256205;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409507	53409507	X:g.53409507G>A	-
NM_006306.4(SMC1A):c.3205C>G (p.Arg1069Gly)	8243	SMC1A	Uncertain significance	2075588188	RCV001883602;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409507	53409507	53409507	-
NM_006306.4(SMC1A):c.3197G>A (p.Arg1066His)	8243	SMC1A	Pathogenic/Likely pathogenic	1556886034	RCV000623215\|RCV000707530;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409515	53409515	X:g.53409515C>T	ClinGen:CA413244342	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser)	8243	SMC1A	Likely pathogenic	-1	RCV003148320;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409516	53409516		-
NM_006306.4(SMC1A):c.3187AAG[1] (p.Lys1064del)	8243	SMC1A	Likely pathogenic	2075588362	RCV001196790;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409520	53409522	X:g.53409520_53409522del	-
NM_006306.4(SMC1A):c.3186C>G (p.Ile1062Met)	8243	SMC1A	Uncertain significance	372307204	RCV000688735\|RCV001816703;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN169374	X	53409526	53409526	X:g.53409526G>C	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3178G>A (p.Glu1060Lys)	8243	SMC1A	Conflicting interpretations of pathogenicity	1057521921	RCV000427470\|RCV001066009;	N	MedGen:CN517202\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409534	53409534	X:g.53409534C>T	ClinGen:CA16608532	CN517202 not provided;
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=)	8243	SMC1A	Likely benign	375312256	RCV000935569;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409535	53409535	X:g.53409535G>A	-
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=)	8243	SMC1A	Likely benign	1432130956	RCV001456126;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409538	53409538	53409538	-
NM_006306.4(SMC1A):c.3151C>T (p.Arg1051Ter)	8243	SMC1A	Pathogenic	1569351907	RCV000692280;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409561	53409561	NC_000023.10:g.53409561G>A	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)	8243	SMC1A	Pathogenic/Likely pathogenic	587784416	RCV000147564\|RCV000255003;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53409566	53409566	X:g.53409566C>T	ClinGen:CA272565,UniProtKB:Q14683#VAR_062800	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)	8243	SMC1A	Pathogenic	2146582701	RCV001380272\|RCV001775171;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53409567	53409567	53409567	-
NM_006306.4(SMC1A):c.3131-4del	8243	SMC1A	Likely benign	-1	RCV003092691;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409585	53409585	NC_000023.10:g.53409586del	-
NM_006306.4(SMC1A):c.3131-5G>C	8243	SMC1A	Likely benign	-1	RCV003092692;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409586	53409586	NC_000023.10:g.53409586C>G	-
NM_006306.4(SMC1A):c.3131-7C>T	8243	SMC1A	Likely benign	-1	RCV002802159;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409588	53409588	NC_000023.10:g.53409588G>A	-
NM_006306.4(SMC1A):c.3131-13T>G	8243	SMC1A	Uncertain significance	1273874101	RCV001165575;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409594	53409594	X:g.53409594A>C	-
NM_006306.4(SMC1A):c.3131-19C>T	8243	SMC1A	Benign	-1	RCV003108845;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53409600	53409600	NC_000023.10:g.53409600G>A	-
NM_006306.4(SMC1A):c.3130+11C>G	8243	SMC1A	Likely benign	-1	RCV002856502;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410007	53410007	NC_000023.10:g.53410007G>C	-
NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=)	8243	SMC1A	Likely benign	-1	RCV002877085;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410022	53410022		-
NM_006306.4(SMC1A):c.3119dup (p.Thr1041fs)	8243	SMC1A	Pathogenic	2075591559	RCV001249630;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410028	53410029	X:g.53410028_53410029insT	-
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	8243	SMC1A	Pathogenic/Likely pathogenic	1556886124	RCV000639410\|RCV003278963;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53410045	53410045	X:g.53410045G>A	ClinGen:CA413245380	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs)	8243	SMC1A	Likely pathogenic	1556886127	RCV000639413;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410066	53410092	NC_000023.10:g.53410066_53410092delinsCTGCA	ClinGen:CA658799759	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3070A>T (p.Asn1024Tyr)	8243	SMC1A	Likely pathogenic	587784415	RCV000147563;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410078	53410078	X:g.53410078T>A	ClinGen:CA272560	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=)	8243	SMC1A	Likely benign	202083908	RCV000935757;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410085	53410085	X:g.53410085G>A	-
NM_006306.4(SMC1A):c.3053A>G (p.Gln1018Arg)	8243	SMC1A	Uncertain significance	2075591743	RCV001059977;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410095	53410095	X:g.53410095T>C	-
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His)	8243	SMC1A	Uncertain significance	-1	RCV003221337;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410109	53410109		-
NM_006306.4(SMC1A):c.3026A>G (p.Lys1009Arg)	8243	SMC1A	Uncertain significance	-1	RCV003054385;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410122	53410122	NC_000023.10:g.53410122T>C	-
NM_006306.4(SMC1A):c.3024G>A (p.Gln1008=)	8243	SMC1A	Likely benign	2146583203	RCV002094626;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410124	53410124	53410124	-
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)	8243	SMC1A	Pathogenic	1602398950	RCV000990830;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410126	53410126	X:g.53410126G>A	-
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=)	8243	SMC1A	Likely benign	782049998	RCV001419449;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410145	53410145	53410145	-
NM_006306.4(SMC1A):c.2981A>G (p.Gln994Arg)	8243	SMC1A	Uncertain significance	781817923	RCV000415185\|RCV002488856;	N	8 conditions\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53410167	53410167	X:g.53410167T>C	ClinGen:CA10420348	C1842581 Abnormality of the corpus callosum;
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=)	8243	SMC1A	Likely benign	2146583246	RCV001446310;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410169	53410169	53410169	-
NM_006306.4(SMC1A):c.2977G>T (p.Ala993Ser)	8243	SMC1A	Likely benign	782127256	RCV000690033;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410171	53410171	X:g.53410171C>A	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2974-2A>G	8243	SMC1A	Pathogenic	727503774	RCV000157050;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0011518,MedGen:C1854630,OMIM:605130, Orphanet:319182	X	53410176	53410176	NC_000023.10:g.53410176T>C	ClinGen:CA333595	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2974-9G>A	8243	SMC1A	Uncertain significance	2146583272	RCV001904248;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410183	53410183	53410183	-
NM_006306.4(SMC1A):c.2974-20G>C	8243	SMC1A	Likely benign	-1	RCV002634980;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53410194	53410194	NC_000023.10:g.53410194C>G	-
NC_000023.10:g.(?_53421678)_(53449569_?)dup	8243	SMC1A	Uncertain significance	-1	RCV001309084;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421678	53449569	-1	-
NM_006306.4(SMC1A):c.2973+20G>A	8243	SMC1A	Likely benign	-1	RCV002609092;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421678	53421678	NC_000023.10:g.53421678C>T	-
NM_006306.4(SMC1A):c.2973+18G>A	8243	SMC1A	Benign	782310979	RCV002133304;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421680	53421680	53421680	-
NM_006306.4(SMC1A):c.2973+18G>C	8243	SMC1A	Likely benign	-1	RCV002608582;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421680	53421680	NC_000023.10:g.53421680C>G	-
NM_006306.4(SMC1A):c.2973+16_2973+17del	8243	SMC1A	Benign	782659050	RCV002204034;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421681	53421682	53421680	-
NM_006306.4(SMC1A):c.2973+1G>A	8243	SMC1A	Pathogenic	-1	RCV003149150;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421697	53421697		-
NM_006306.4(SMC1A):c.2973G>A (p.Lys991=)	8243	SMC1A	Uncertain significance	2075644860	RCV001216313;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421698	53421698	X:g.53421698C>T	-
NC_000023.10:g.(?_53421698)_(53421808_?)del	8243	SMC1A	Uncertain significance	-1	RCV001374167;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421698	53421808	-1	-
NM_006306.4(SMC1A):c.2950G>A (p.Gly984Ser)	8243	SMC1A	Conflicting interpretations of pathogenicity	782381563	RCV000538565\|RCV001788281\|RCV002314979;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	53421721	53421721	X:g.53421721C>T	ClinGen:CA10420371	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=)	8243	SMC1A	Likely benign	1390804289	RCV002066030;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421722	53421722	X:g.53421722G>A	-
NM_006306.4(SMC1A):c.2948A>G (p.Tyr983Cys)	8243	SMC1A	Conflicting interpretations of pathogenicity	1556887759	RCV001031001;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421723	53421723	X:g.53421723T>C	-
NM_006306.4(SMC1A):c.2928G>A (p.Glu976=)	8243	SMC1A	Likely benign	-1	RCV002839001;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421743	53421743		-
NM_006306.4(SMC1A):c.2923C>T (p.Arg975Ter)	8243	SMC1A	Pathogenic	2146592407	RCV001387534;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421748	53421748	53421748	-
NM_006306.4(SMC1A):c.2922A>G (p.Ala974=)	8243	SMC1A	Likely benign	-1	RCV002937095;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421749	53421749		-
NM_006306.4(SMC1A):c.2918A>G (p.Tyr973Cys)	8243	SMC1A	Uncertain significance	-1	RCV003091093;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421753	53421753	NC_000023.10:g.53421753T>C	-
NM_006306.4(SMC1A):c.2908T>A (p.Ser970Thr)	8243	SMC1A	Uncertain significance	1239033094	RCV001172011\|RCV002557477;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421763	53421763	X:g.53421763A>T	-
NM_006306.4(SMC1A):c.2899C>T (p.Gln967Ter)	8243	SMC1A	Pathogenic	2146592415	RCV001931044;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421772	53421772	53421772	-
NM_006306.4(SMC1A):c.2895T>C (p.Gly965=)	8243	SMC1A	Likely benign	2075645097	RCV002220256;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421776	53421776	53421776	-
NM_006306.4(SMC1A):c.2890A>G (p.Ser964Gly)	8243	SMC1A	Uncertain significance	-1	RCV002304318;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421781	53421781	53421781	-
NM_006306.4(SMC1A):c.2887G>C (p.Val963Leu)	8243	SMC1A	Uncertain significance	2146592426	RCV001991871;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421784	53421784	53421784	-
NM_006306.4(SMC1A):c.2882A>T (p.Asp961Val)	8243	SMC1A	Uncertain significance	2146592435	RCV001875589;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421789	53421789	53421789	-
NM_006306.4(SMC1A):c.2872dup (p.Gln958fs)	8243	SMC1A	Pathogenic	1602404847	RCV000812147;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421798	53421799	X:g.53421798_53421799insG	-
NM_006306.4(SMC1A):c.2873A>G (p.Gln958Arg)	8243	SMC1A	Uncertain significance	1253991330	RCV002225221;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421798	53421798	53421798	-
NM_006306.4(SMC1A):c.2867G>T (p.Ser956Ile)	8243	SMC1A	Uncertain significance	1556887779	RCV001370925;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421804	53421804	53421804	-
NM_006306.4(SMC1A):c.2863-9C>G	8243	SMC1A	Likely benign	371102918	RCV001304670;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421817	53421817	53421817	-
NM_006306.4(SMC1A):c.2863-13G>A	8243	SMC1A	Likely benign	-1	RCV003058729;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421821	53421821	NC_000023.10:g.53421821C>T	-
NM_006306.4(SMC1A):c.2863-14C>T	8243	SMC1A	Benign	-1	RCV002918029;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421822	53421822	NC_000023.10:g.53421822G>A	-
NM_006306.4(SMC1A):c.2863-17C>G	8243	SMC1A	Likely benign	-1	RCV002637159;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421825	53421825	NC_000023.10:g.53421825G>C	-
NM_006306.4(SMC1A):c.2863-19C>T	8243	SMC1A	Likely benign	-1	RCV003065208;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53421827	53421827	NC_000023.10:g.53421827G>A	-
NM_006306.4(SMC1A):c.2862+20G>A	8243	SMC1A	Benign	374473076	RCV002081026;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423127	53423127	53423127	-
NC_000023.10:g.(?_53423127)_(53572142_?)dup	8243	SMC1A	Uncertain significance	-1	RCV003109488;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423127	53572142		-
NM_006306.4(SMC1A):c.2862+14C>T	8243	SMC1A	Benign	180705944	RCV002099065;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423133	53423133	53423133	-
NM_006306.4(SMC1A):c.2862+4A>G	8243	SMC1A	Uncertain significance	1445281439	RCV001061962;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423143	53423143	X:g.53423143T>C	-
NM_006306.4(SMC1A):c.2862+4A>C	8243	SMC1A	Uncertain significance	1445281439	RCV002030454;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423143	53423143	53423143	-
NM_006306.4(SMC1A):c.2862+3G>C	8243	SMC1A	Likely benign	2075650901	RCV001348001;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423144	53423144	53423144	-
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)	8243	SMC1A	Pathogenic	863225458	RCV000202429\|RCV000394437\|RCV001072124;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53423153	53423156	X:g.53423153_53423156del	ClinGen:CA277856,OMIM:300040.0008	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2842_2845dup (p.Asp949delinsGlyTer)	8243	SMC1A	Pathogenic	2146593421	RCV001380328;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423163	53423164	53423163	-
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=)	8243	SMC1A	Likely benign	782146571	RCV001395221;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423171	53423171	53423171	-
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=)	8243	SMC1A	Benign/Likely benign	139654605	RCV000193146\|RCV000713378\|RCV001085865\|RCV002311305;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53423185	53423185	X:g.53423185G>A	ClinGen:CA206432	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)	8243	SMC1A	Pathogenic	1602405588	RCV000990831;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423194	53423195	X:g.53423194_53423195insA	-
NM_006306.4(SMC1A):c.2792A>G (p.Gln931Arg)	8243	SMC1A	Uncertain significance	782728089	RCV000707099\|RCV002477634;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423217	53423217	X:g.53423217T>C	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2789T>C (p.Leu930Pro)	8243	SMC1A	Uncertain significance	2146593453	RCV001365818;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423220	53423220	53423220	-
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=)	8243	SMC1A	Conflicting interpretations of pathogenicity	781912370	RCV000192495\|RCV001426116;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423221	53423221	NC_000023.10:g.53423221G>A	ClinGen:CA205343	CN169374 not specified;
NM_006306.4(SMC1A):c.2785T>C (p.Leu929=)	8243	SMC1A	Likely benign	-1	RCV002592387;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423224	53423224		-
NM_006306.4(SMC1A):c.2742C>T (p.Ala914=)	8243	SMC1A	Likely benign	-1	RCV003039476;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423267	53423267		-
NM_006306.4(SMC1A):c.2739A>G (p.Thr913=)	8243	SMC1A	Likely benign	2146593498	RCV002080225;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423270	53423270	53423270	-
NM_006306.4(SMC1A):c.2738C>T (p.Thr913Ile)	8243	SMC1A	Uncertain significance	1569355048	RCV000693326;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423271	53423271	NC_000023.10:g.53423271G>A	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2729AGG[1] (p.Glu911del)	8243	SMC1A	Uncertain significance	2075651266	RCV001219346;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423275	53423277	X:g.53423275_53423277del	-
NM_006306.4(SMC1A):c.2718C>G (p.Thr906=)	8243	SMC1A	Likely benign	1556888013	RCV002139131;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423291	53423291	53423291	-
NM_006306.4(SMC1A):c.2717C>T (p.Thr906Ile)	8243	SMC1A	Uncertain significance	2146593520	RCV002050732;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423292	53423292	53423292	-
NM_006306.4(SMC1A):c.2709-4T>A	8243	SMC1A	Likely benign	1602405648	RCV000822010;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423304	53423304	X:g.53423304A>T	-
NM_006306.4(SMC1A):c.2709-10C>A	8243	SMC1A	Likely benign	2083250975	RCV002090953;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423310	53423310	53423310	-
NM_006306.4(SMC1A):c.2708+13A>G	8243	SMC1A	Likely benign	-1	RCV003074226;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423379	53423379	NC_000023.10:g.53423379T>C	-
NM_006306.4(SMC1A):c.2708+12C>G	8243	SMC1A	Likely benign	-1	RCV003029537;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423380	53423380	NC_000023.10:g.53423380G>C	-
NM_006306.4(SMC1A):c.2708+7G>A	8243	SMC1A	Uncertain significance	-1	RCV003024229;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423385	53423385	NC_000023.10:g.53423385C>T	-
NM_006306.4(SMC1A):c.2708A>G (p.Lys903Arg)	8243	SMC1A	Uncertain significance	1569355072	RCV000685225;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423392	53423392	NC_000023.10:g.53423392T>C	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)	8243	SMC1A	Conflicting interpretations of pathogenicity	186510389	RCV001165576;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423400	53423400	X:g.53423400G>A	-
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=)	8243	SMC1A	Likely benign	886362301	RCV001467367;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423406	53423406	53423406	-
NM_006306.4(SMC1A):c.2691A>G (p.Lys897=)	8243	SMC1A	Benign	782574044	RCV001516596;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423409	53423409	X:g.53423409T>C	-
NM_006306.4(SMC1A):c.2671A>G (p.Met891Val)	8243	SMC1A	Uncertain significance	2146593592	RCV001823505;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423429	53423429	53423429	-
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=)	8243	SMC1A	Likely benign	1193658492	RCV002060949\|RCV002318246\|RCV002485814;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423454	53423454	NC_000023.10:g.53423454C>T	-
NM_006306.4(SMC1A):c.2645C>T (p.Ser882Leu)	8243	SMC1A	Uncertain significance	376589639	RCV001227326;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423455	53423455	X:g.53423455G>A	-
NM_006306.4(SMC1A):c.2640G>A (p.Lys880=)	8243	SMC1A	Likely benign	2075651961	RCV002179104;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423460	53423460	53423460	-
NM_006306.4(SMC1A):c.2635G>A (p.Ala879Thr)	8243	SMC1A	Uncertain significance	-1	RCV003005329;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423465	53423465	NC_000023.10:g.53423465C>T	-
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn)	8243	SMC1A	Benign	2146593635	RCV001522676;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423486	53423486	53423486	-
NM_006306.4(SMC1A):c.2600T>C (p.Met867Thr)	8243	SMC1A	Uncertain significance	1034852654	RCV001370937;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423500	53423500	53423500	-
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)	8243	SMC1A	Likely benign	781991944	RCV001458030\|RCV002488262;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53423502	53423502	53423502	-
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=)	8243	SMC1A	Likely benign	1602405816	RCV001461771;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423517	53423517	X:g.53423517C>T	-
NM_006306.4(SMC1A):c.2568A>G (p.Glu856=)	8243	SMC1A	Likely benign	2146593670	RCV002204577;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53423532	53423532	53423532	-
NM_006306.4(SMC1A):c.2562+17T>G	8243	SMC1A	Benign/Likely benign	782781158	RCV002119348\|RCV002486944;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53426494	53426494	53426494	-
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=)	8243	SMC1A	Likely benign	1602407405	RCV000934869;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426517	53426517	X:g.53426517G>T	-
NM_006306.4(SMC1A):c.2555T>C (p.Leu852Pro)	8243	SMC1A	Uncertain significance	-1	RCV002289164;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426518	53426518	53426518	-
NM_006306.4(SMC1A):c.2547del (p.Ile849fs)	8243	SMC1A	Pathogenic	797045069	RCV000191130;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426526	53426526	X:g.53426526_53426526del	ClinGen:CA276167	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln)	8243	SMC1A	Conflicting interpretations of pathogenicity	904926146	RCV002206362\|RCV002454585;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53426565	53426565	53426565	-
NM_006306.4(SMC1A):c.2505A>G (p.Val835=)	8243	SMC1A	Likely benign	782491758	RCV001393833;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426568	53426568	53426568	-
NM_006306.4(SMC1A):c.2493_2495del (p.Asp831_Gln832delinsGlu)	8243	SMC1A	Pathogenic	1602407457	RCV000012438;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426578	53426580	X:g.53426578_53426580del	OMIM:300040.0001	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2487G>A (p.Lys829=)	8243	SMC1A	Likely benign	-1	RCV003036199;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426586	53426586		-
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=)	8243	SMC1A	Likely benign	1198625423	RCV001437211;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426612	53426612	53426612	-
NM_006306.4(SMC1A):c.2456T>G (p.Ile819Ser)	8243	SMC1A	Conflicting interpretations of pathogenicity	587784413	RCV000147561\|RCV001344914;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426617	53426617	X:g.53426617A>C	ClinGen:CA173510	CN169374 not specified;
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His)	8243	SMC1A	Likely pathogenic	886044819	RCV000400812\|RCV000990832;	N	MedGen:CN517202\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426626	53426626	X:g.53426626C>T	ClinGen:CA10604669	CN517202 not provided;
NM_006306.4(SMC1A):c.2446C>T (p.Arg816Cys)	8243	SMC1A	Uncertain significance	1556888586	RCV000528271;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426627	53426627	X:g.53426627G>A	ClinGen:CA413250707	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2437C>T (p.Gln813Ter)	8243	SMC1A	Pathogenic	2146595540	RCV002042319;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426636	53426636	53426636	-
NM_006306.4(SMC1A):c.2421-4A>G	8243	SMC1A	Likely benign	782673405	RCV001503972;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426656	53426656	53426656	-
NM_006306.4(SMC1A):c.2421-15dup	8243	SMC1A	Benign	781926382	RCV002092155;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426666	53426667	53426666	-
NM_006306.4(SMC1A):c.2421-15C>A	8243	SMC1A	Likely benign	1002384123	RCV002107915;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426667	53426667	53426667	-
NM_006306.4(SMC1A):c.2421-15del	8243	SMC1A	Benign	-1	RCV002904532;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426667	53426667	NC_000023.10:g.53426672del	-
NM_006306.4(SMC1A):c.2421-16C>T	8243	SMC1A	Likely benign	-1	RCV003081669;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426668	53426668	NC_000023.10:g.53426668G>A	-
NM_006306.4(SMC1A):c.2421-20C>T	8243	SMC1A	Likely benign	1282673050	RCV002142436;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53426672	53426672	53426672	-
NC_000023.10:g.(?_53430478)_(53432101_?)del	8243	SMC1A	Pathogenic	-1	RCV000811350;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430478	53432101		-
NC_000023.10:g.(?_53430478)_(53442138_?)del	8243	SMC1A	Pathogenic	-1	RCV001951358;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430478	53442138	-1	-
NM_006306.4(SMC1A):c.2420+5G>A	8243	SMC1A	Uncertain significance	1556889217	RCV000689724;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430493	53430493	X:g.53430493C>T	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)	8243	SMC1A	Pathogenic/Likely pathogenic	1569356550	RCV000680262\|RCV001268607;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53430498	53430498	X:g.53430498C>T	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2398C>T (p.Gln800Ter)	8243	SMC1A	Pathogenic	2146598241	RCV001381967;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430520	53430520	53430520	-
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs)	8243	SMC1A	Pathogenic	1569356555	RCV000680261;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430523	53430524	NC_000023.10:g.53430526dup	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2382A>G (p.Glu794=)	8243	SMC1A	Likely benign	2146598260	RCV002077018;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430536	53430536	53430536	-
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln)	8243	SMC1A	Pathogenic	797045993	RCV000194474;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430549	53430549	NC_000023.10:g.53430549C>T	ClinGen:CA277329,UniProtKB:Q14683#VAR_062798	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)	8243	SMC1A	Pathogenic/Likely pathogenic	587784412	RCV000147560\|RCV001252688\|RCV001265874\|RCV003235070;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MONDO:	X	53430550	53430550	X:g.53430550G>A	ClinGen:CA272550	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2360G>A (p.Arg787His)	8243	SMC1A	Uncertain significance	-1	RCV002820923;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430558	53430558	NC_000023.10:g.53430558C>T	-
NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	8243	SMC1A	Pathogenic/Likely pathogenic	387906702	RCV000022820\|RCV000441375\|RCV000623393;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	53430567	53430567	X:g.53430567A>G	UniProtKB:Q14683#VAR_064543,OMIM:300040.0005,ClinGen:CA259690	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2350A>G (p.Ile784Val)	8243	SMC1A	Uncertain significance	587784411	RCV000147559;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430568	53430568	X:g.53430568T>C	ClinGen:CA272545	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2345G>A (p.Arg782Gln)	8243	SMC1A	Uncertain significance	782733394	RCV002272762;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430573	53430573	53430573	-
NM_006306.4(SMC1A):c.2341T>C (p.Cys781Arg)	8243	SMC1A	Pathogenic	2146598316	RCV001788516;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430577	53430577	53430577	-
NM_006306.4(SMC1A):c.2328G>A (p.Val776=)	8243	SMC1A	Likely benign	2146598325	RCV002106342;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430590	53430590	53430590	-
NM_006306.4(SMC1A):c.2327T>A (p.Val776Glu)	8243	SMC1A	Likely pathogenic	587784410	RCV000147558;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430591	53430591	X:g.53430591A>T	ClinGen:CA272540	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2320G>T (p.Asp774Tyr)	8243	SMC1A	Likely pathogenic	2075680329	RCV001045982;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430598	53430598	X:g.53430598C>A	-
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn)	8243	SMC1A	Uncertain significance	2075680329	RCV001170013;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430598	53430598	X:g.53430598C>T	-
NM_006306.4(SMC1A):c.2314G>T (p.Val772Leu)	8243	SMC1A	Uncertain significance	2075680361	RCV001210741;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430604	53430604	X:g.53430604C>A	-
NM_006306.4(SMC1A):c.2314-2A>G	8243	SMC1A	Likely pathogenic	1602409271	RCV000791958;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430606	53430606	X:g.53430606T>C	-
NM_006306.4(SMC1A):c.2314-2A>T	8243	SMC1A	Likely pathogenic	1602409271	RCV002000326;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430606	53430606	53430606	-
NM_006306.4(SMC1A):c.2314-7_2314-3del	8243	SMC1A	Likely pathogenic	2146598341	RCV001379710;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430607	53430611	53430606	-
NM_006306.4(SMC1A):c.2314-5C>T	8243	SMC1A	Likely benign	-1	RCV002877154;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430609	53430609	NC_000023.10:g.53430609G>A	-
NM_006306.4(SMC1A):c.2314-12T>C	8243	SMC1A	Likely benign	-1	RCV002858235;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430616	53430616	NC_000023.10:g.53430616A>G	-
NM_006306.4(SMC1A):c.2314-15G>A	8243	SMC1A	Uncertain significance	2146598343	RCV002024335;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430619	53430619	53430619	-
NM_006306.4(SMC1A):c.2313+14G>T	8243	SMC1A	Likely benign	1556889255	RCV002199722;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430695	53430695	53430695	-
NM_006306.4(SMC1A):c.2313+3T>G	8243	SMC1A	Uncertain significance	782384493	RCV002265040\|RCV001895002;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430706	53430706	53430706	-
NM_006306.4(SMC1A):c.2291A>G (p.Asp764Gly)	8243	SMC1A	Uncertain significance	-1	RCV002300167;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430731	53430731	53430731	-
NM_006306.4(SMC1A):c.2272C>T (p.Arg758Ter)	8243	SMC1A	Pathogenic	1556889269	RCV000497394\|RCV002527145;	N	MedGen:CN517202\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430750	53430750	X:g.53430750G>A	ClinGen:CA413251259	CN517202 not provided;
NM_006306.4(SMC1A):c.2229C>T (p.Asn743=)	8243	SMC1A	Likely benign	-1	RCV002635870;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430793	53430793		-
NM_006306.4(SMC1A):c.2226C>T (p.Ala742=)	8243	SMC1A	Likely benign	-1	RCV002583195;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430796	53430796		-
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=)	8243	SMC1A	Likely benign	1388876894	RCV001502905;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53430817	53430817	53430817	-
NM_006306.4(SMC1A):c.2197-5T>C	8243	SMC1A	Benign/Likely benign	2297104	RCV000081384\|RCV000368215\|RCV000535243\|RCV001573241\|RCV002311630;	N	MedGen:CN169374\|MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	53430830	53430830	X:g.53430830A>G	ClinGen:CA148480	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=)	8243	SMC1A	Likely benign	968499171	RCV001460035;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53431956	53431956	X:g.53431956G>T	-
NM_006306.4(SMC1A):c.2173C>T (p.Arg725Ter)	8243	SMC1A	Pathogenic	2146599304	RCV002051525;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53431967	53431967	53431967	-
NM_006306.4(SMC1A):c.2161C>T (p.Gln721Ter)	8243	SMC1A	Pathogenic	2075685944	RCV001049126;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53431979	53431979	X:g.53431979G>A	-
NM_006306.4(SMC1A):c.2160A>G (p.Glu720=)	8243	SMC1A	Likely benign	2146599315	RCV002201519;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53431980	53431980	53431980	-
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=)	8243	SMC1A	Likely benign	1255531738	RCV001419122;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53431983	53431983	53431983	-
NM_006306.4(SMC1A):c.2146C>T (p.Gln716Ter)	8243	SMC1A	Pathogenic	-1	RCV002856276;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53431994	53431994	NC_000023.10:g.53431994G>A	-
NM_006306.4(SMC1A):c.2132_2139del (p.Arg711fs)	8243	SMC1A	Pathogenic	2146599324	RCV001946733;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432001	53432008	53432000	-
NM_006306.4(SMC1A):c.2132G>A (p.Arg711Gln)	8243	SMC1A	Pathogenic/Likely pathogenic	782176647	RCV001390824\|RCV003229894;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53432008	53432008	53432008	-
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)	8243	SMC1A	Pathogenic/Likely pathogenic	587784409	RCV000147557\|RCV001574986\|RCV002498674;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432009	53432009	X:g.53432009G>A	ClinGen:CA272536,UniProtKB:Q14683#VAR_062796	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=)	8243	SMC1A	Likely benign	1309209851	RCV002122436\|RCV002507988;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53432016	53432016	53432016	-
NM_006306.4(SMC1A):c.2095C>T (p.Arg699Cys)	8243	SMC1A	Conflicting interpretations of pathogenicity	2075686139	RCV001051163\|RCV003319436;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53432045	53432045	X:g.53432045G>A	-
NM_006306.4(SMC1A):c.2088A>G (p.Ala696=)	8243	SMC1A	Likely benign	-1	RCV003015695;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432052	53432052		-
NM_006306.4(SMC1A):c.2078G>A (p.Arg693Gln)	8243	SMC1A	Pathogenic/Likely pathogenic	587784408	RCV000147556\|RCV003327373;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53432062	53432062	X:g.53432062C>T	ClinGen:CA272531	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.2065A>G (p.Met689Val)	8243	SMC1A	Uncertain significance	2075686262	RCV001222901;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432075	53432075	X:g.53432075T>C	-
NM_006306.4(SMC1A):c.2061G>A (p.Glu687=)	8243	SMC1A	Uncertain significance	2075686281	RCV001165577;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432079	53432079	X:g.53432079C>T	-
NM_006306.4(SMC1A):c.2059-9T>C	8243	SMC1A	Likely benign	782041729	RCV002505399\|RCV002545948;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432090	53432090	X:g.53432090A>G	-
NM_006306.4(SMC1A):c.2058+9C>G	8243	SMC1A	Benign	1356800269	RCV002125081;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432168	53432168	53432168	-
NM_006306.4(SMC1A):c.2046_2048del (p.Glu684del)	8243	SMC1A	Likely pathogenic	797045992	RCV000193116;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432187	53432189	NC_000023.10:g.53432187_53432189del	ClinGen:CA277080
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=)	8243	SMC1A	Likely benign	1388761806	RCV002160781\|RCV002416505;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53432189	53432189	53432189	-
NM_006306.4(SMC1A):c.2040C>T (p.Arg680=)	8243	SMC1A	Likely benign	782816467	RCV002079483;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432195	53432195	53432195	-
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His)	8243	SMC1A	Likely benign	1556889522	RCV000930925;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432196	53432196	X:g.53432196C>T	-
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter)	8243	SMC1A	Pathogenic	1569356968	RCV000757943;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432200	53432200	NC_000023.10:g.53432200C>A	-
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=)	8243	SMC1A	Benign	782008528	RCV001517563;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432201	53432201	53432201	-
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)	8243	SMC1A	Likely pathogenic	2146599562	RCV001843849\|RCV001843850;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53432201	53432203	53432200	-
NM_006306.4(SMC1A):c.1994G>A (p.Arg665His)	8243	SMC1A	Likely benign	-1	RCV002470417;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432241	53432241	NC_000023.10:g.53432241C>T	-
NM_006306.4(SMC1A):c.1977G>A (p.Leu659=)	8243	SMC1A	Likely benign	2146599598	RCV002207449;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432258	53432258	53432258	-
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu)	8243	SMC1A	Likely pathogenic	1602410098	RCV000990833;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432271	53432271	X:g.53432271C>T	-
NM_006306.4(SMC1A):c.1958C>T (p.Ser653Phe)	8243	SMC1A	Pathogenic	2075687166	RCV001270900;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432277	53432277	X:g.53432277G>A	-
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=)	8243	SMC1A	Likely benign	370873072	RCV001429889;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432297	53432297	53432297	-
NM_006306.4(SMC1A):c.1935A>G (p.Leu645=)	8243	SMC1A	Likely benign	-1	RCV002607239;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432300	53432300		-
NM_006306.4(SMC1A):c.1935A>C (p.Leu645=)	8243	SMC1A	Likely benign	-1	RCV003033392;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432300	53432300		-
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=)	8243	SMC1A	Likely benign	987473076	RCV001454849;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432302	53432302	53432302	-
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=)	8243	SMC1A	Benign	782123095	RCV002141208;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432312	53432312	53432312	-
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)	8243	SMC1A	Conflicting interpretations of pathogenicity	782292864	RCV001165578\|RCV002411658;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53432318	53432318	X:g.53432318C>T	-
NM_006306.4(SMC1A):c.1912-4G>T	8243	SMC1A	Likely benign	2075687357	RCV001413169;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432327	53432327	53432327	-
NM_006306.4(SMC1A):c.1912-14C>T	8243	SMC1A	Benign/Likely benign	375109064	RCV002097623\|RCV002498325;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53432337	53432337	53432337	-
NM_006306.4(SMC1A):c.1911+18C>T	8243	SMC1A	Likely benign	-1	RCV003073478;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432407	53432407	NC_000023.10:g.53432407G>A	-
NM_006306.4(SMC1A):c.1911+12C>G	8243	SMC1A	Benign/Likely benign	200324148	RCV002097403\|RCV002498319;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53432413	53432413	53432413	-
NM_006306.4(SMC1A):c.1911+7A>G	8243	SMC1A	Conflicting interpretations of pathogenicity	2075687773	RCV001330229;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432418	53432418	53432418	-
NM_006306.4(SMC1A):c.1911G>A (p.Lys637=)	8243	SMC1A	Uncertain significance	2075687850	RCV001208784;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432425	53432425	X:g.53432425C>T	-
NM_006306.4(SMC1A):c.1906C>T (p.His636Tyr)	8243	SMC1A	Uncertain significance	-1	RCV003333410;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432430	53432430		-
NM_006306.4(SMC1A):c.1904G>A (p.Arg635His)	8243	SMC1A	Conflicting interpretations of pathogenicity	2146599709	RCV002226093\|RCV003089206;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432432	53432432	53432432	-
NM_006306.4(SMC1A):c.1899C>T (p.His633=)	8243	SMC1A	Likely benign	-1	RCV002890676;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432437	53432437		-
NM_006306.4(SMC1A):c.1879C>T (p.Arg627Cys)	8243	SMC1A	Uncertain significance	-1	RCV002750349\|RCV003435822;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53432457	53432457	NC_000023.10:g.53432457G>A	-
NM_006306.4(SMC1A):c.1877G>A (p.Arg626His)	8243	SMC1A	Conflicting interpretations of pathogenicity	587784407	RCV000147555;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432459	53432459	X:g.53432459C>T	ClinGen:CA272526	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1876C>T (p.Arg626Cys)	8243	SMC1A	Uncertain significance	1556889577	RCV000639412\|RCV003238796;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53432460	53432460	NC_000023.10:g.53432460G>A	ClinGen:CA413252792	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1872T>G (p.Asp624Glu)	8243	SMC1A	Uncertain significance	1369059288	RCV000819704\|RCV000999455;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53432464	53432464	X:g.53432464A>C	-
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=)	8243	SMC1A	Likely benign	782665597	RCV000928881;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432473	53432473	X:g.53432473G>A	-
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=)	8243	SMC1A	Likely benign	1458553359	RCV001456993;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432476	53432476	53432476	-
NM_006306.4(SMC1A):c.1847C>T (p.Ala616Val)	8243	SMC1A	Uncertain significance	782196047	RCV000822047;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432489	53432489	X:g.53432489G>A	-
NM_006306.4(SMC1A):c.1844A>G (p.Asn615Ser)	8243	SMC1A	Uncertain significance	2146599772	RCV001931947\|RCV003136223;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53432492	53432492	53432492	-
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)	8243	SMC1A	Uncertain significance	-1	RCV003136894\|RCV003396913;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432507	53432507	NC_000023.10:g.53432507T>C	-
NM_006306.4(SMC1A):c.1808C>T (p.Pro603Leu)	8243	SMC1A	Uncertain significance	-1	RCV003046455;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432528	53432528	NC_000023.10:g.53432528G>A	-
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs)	8243	SMC1A	Pathogenic	1602410239	RCV000995879;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432548	53432551	X:g.53432548_53432551del	-
NM_006306.4(SMC1A):c.1782G>A (p.Val594=)	8243	SMC1A	Likely benign	-1	RCV003053039;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432554	53432554		-
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=)	8243	SMC1A	Likely benign	782379340	RCV002317474\|RCV002533047;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432578	53432578	NC_000023.10:g.53432578C>A	-
NM_006306.4(SMC1A):c.1756C>T (p.Arg586Trp)	8243	SMC1A	Likely pathogenic	2146599836	RCV002052134\|RCV003107943;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53432580	53432580	53432580	-
NM_006306.4(SMC1A):c.1754T>C (p.Leu585Pro)	8243	SMC1A	Likely pathogenic	587784406	RCV000147554;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432582	53432582	X:g.53432582A>G	ClinGen:CA272521	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1732-7C>A	8243	SMC1A	Likely benign	-1	RCV002863861;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432611	53432611	NC_000023.10:g.53432611G>T	-
NM_006306.4(SMC1A):c.1732-19A>G	8243	SMC1A	Likely benign	2146599868	RCV002195316;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432623	53432623	53432623	-
NM_006306.4(SMC1A):c.1731+3G>T	8243	SMC1A	Uncertain significance	2075688980	RCV001351637;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432700	53432700	53432700	-
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=)	8243	SMC1A	Likely benign	781835493	RCV001486441;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432708	53432708	53432708	-
NM_006306.4(SMC1A):c.1715C>T (p.Pro572Leu)	8243	SMC1A	Likely pathogenic	-1	RCV002471965;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432719	53432719	NC_000023.10:g.53432719G>A	-
NM_006306.4(SMC1A):c.1714C>T (p.Pro572Ser)	8243	SMC1A	Likely pathogenic	-1	RCV003112449;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432720	53432720	NC_000023.10:g.53432720G>A	-
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=)	8243	SMC1A	Benign/Likely benign	7052858	RCV000147553\|RCV000639411\|RCV001560861\|RCV002316949\|RCV002478410;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53432736	53432736	X:g.53432736C>T	ClinGen:CA173505	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1696G>A (p.Glu566Lys)	8243	SMC1A	Uncertain significance	2146600005	RCV001892347;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432738	53432738	53432738	-
NM_006306.4(SMC1A):c.1694G>A (p.Gly565Glu)	8243	SMC1A	Likely pathogenic	2146600012	RCV001980618;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432740	53432740	53432740	-
NM_006306.4(SMC1A):c.1682A>G (p.Lys561Arg)	8243	SMC1A	Uncertain significance	2075689167	RCV001221735;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432752	53432752	X:g.53432752T>C	-
NM_006306.4(SMC1A):c.1681A>C (p.Lys561Gln)	8243	SMC1A	Uncertain significance	2075689185	RCV001048196;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432753	53432753	X:g.53432753T>G	-
NM_006306.4(SMC1A):c.1653G>A (p.Lys551=)	8243	SMC1A	Likely benign	-1	RCV003039107;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432781	53432781		-
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=)	8243	SMC1A	Likely benign	782582676	RCV001393699;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432787	53432787	53432787	-
NM_006306.4(SMC1A):c.1628A>G (p.Asp543Gly)	8243	SMC1A	Uncertain significance	-1	RCV002843835;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432806	53432806	NC_000023.10:g.53432806T>C	-
NM_006306.4(SMC1A):c.1607A>G (p.Lys536Arg)	8243	SMC1A	Pathogenic	2146600076	RCV002041467;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432827	53432827	53432827	-
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)	8243	SMC1A	Likely benign	1210222346	RCV001433965\|RCV002495601;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432856	53432856	53432856	-
NM_006306.4(SMC1A):c.1566A>G (p.Leu522=)	8243	SMC1A	Likely benign	782191187	RCV001576549\|RCV002569086;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432868	53432868	53432868	-
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=)	8243	SMC1A	Benign	782367851	RCV001513920;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432870	53432870	53432870	-
NM_006306.4(SMC1A):c.1553G>A (p.Arg518His)	8243	SMC1A	Uncertain significance	2146600129	RCV001891735;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432881	53432881	53432881	-
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=)	8243	SMC1A	Benign/Likely benign	782547781	RCV001521350\|RCV002317542;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53432886	53432886	NC_000023.10:g.53432886G>A	-
NM_006306.4(SMC1A):c.1546-2A>C	8243	SMC1A	Likely pathogenic	-1	RCV003333681;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432890	53432890		-
NM_006306.4(SMC1A):c.1546-5C>T	8243	SMC1A	Conflicting interpretations of pathogenicity	1556889651	RCV002218430\|RCV002469453;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN169374	X	53432893	53432893	53432893	-
NM_006306.4(SMC1A):c.1546-10C>G	8243	SMC1A	Uncertain significance	2146600160	RCV001371604;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432898	53432898	53432898	-
NM_006306.4(SMC1A):c.1546-11A>G	8243	SMC1A	Benign	-1	RCV003117163;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432899	53432899	NC_000023.10:g.53432899T>C	-
NM_006306.4(SMC1A):c.1546-13C>G	8243	SMC1A	Likely benign	-1	RCV003032164;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53432901	53432901	NC_000023.10:g.53432901G>C	-
NC_000023.10:g.(?_53435973)_(53442138_?)del	8243	SMC1A	Pathogenic	-1	RCV003109487;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53435973	53442138		-
NM_006306.4(SMC1A):c.1545+18A>G	8243	SMC1A	Likely benign	-1	RCV002828655;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53435975	53435975	NC_000023.10:g.53435975T>C	-
NM_006306.4(SMC1A):c.1545+5G>A	8243	SMC1A	Uncertain significance	113714434	RCV001786980\|RCV002034627\|RCV002478021;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53435988	53435988	53435988	-
NM_006306.4(SMC1A):c.1545+4A>C	8243	SMC1A	Conflicting interpretations of pathogenicity	377270943	RCV000147552\|RCV000356126\|RCV001529713\|RCV002316948;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN169374\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	53435989	53435989	X:g.53435989T>G	ClinGen:CA272520	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1536T>C (p.Pro512=)	8243	SMC1A	Likely benign	200645744	RCV002133198;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436002	53436002	53436002	-
NM_006306.4(SMC1A):c.1497A>C (p.Arg499=)	8243	SMC1A	Likely benign	2146602244	RCV002086407;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436041	53436041	53436041	-
NM_006306.4(SMC1A):c.1495C>T (p.Arg499Ter)	8243	SMC1A	Pathogenic/Likely pathogenic	1556890135	RCV000578696\|RCV001270901\|RCV001387822;	N	MedGen:C3661900\|\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436043	53436043	X:g.53436043G>A	ClinGen:CA413255441	CN517202 not provided;
NM_006306.4(SMC1A):c.1488C>A (p.Arg496=)	8243	SMC1A	Likely benign	-1	RCV002988859;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436050	53436050		-
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	8243	SMC1A	Pathogenic	122454123	RCV000012441\|RCV001577833;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53436051	53436051	X:g.53436051C>T	ClinGen:CA255969,UniProtKB:Q14683#VAR_062793,OMIM:300040.0004	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1486C>T (p.Arg496Cys)	8243	SMC1A	Likely pathogenic	2075701790	RCV001043421\|RCV002274122;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53436052	53436052	X:g.53436052G>A	-
NM_006306.4(SMC1A):c.1478A>C (p.Glu493Ala)	8243	SMC1A	Pathogenic	122454122	RCV000012439;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436060	53436060	X:g.53436060T>G	ClinGen:CA255965,UniProtKB:Q14683#VAR_026529,OMIM:300040.0002	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1467C>T (p.Ile489=)	8243	SMC1A	Likely benign	-1	RCV002589689;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436071	53436071		-
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly)	8243	SMC1A	Conflicting interpretations of pathogenicity	587784405	RCV000147551;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436081	53436081	X:g.53436081T>C	ClinGen:CA272515	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1436A>C (p.Gln479Pro)	8243	SMC1A	Uncertain significance	2075701962	RCV001202476;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436102	53436102	X:g.53436102T>G	-
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=)	8243	SMC1A	Likely benign	1392864809	RCV001473797\|RCV001655730;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53436107	53436107	53436107	-
NM_006306.4(SMC1A):c.1428G>A (p.Glu476=)	8243	SMC1A	Likely benign	2146602309	RCV002096866;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436110	53436110	53436110	-
NM_006306.4(SMC1A):c.1425G>A (p.Lys475=)	8243	SMC1A	Likely benign	2075702025	RCV002197723;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436113	53436113	53436113	-
NM_006306.4(SMC1A):c.1419C>T (p.Ile473=)	8243	SMC1A	Likely benign	-1	RCV003118099;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436119	53436119		-
NM_006306.4(SMC1A):c.1412A>G (p.Asp471Gly)	8243	SMC1A	Uncertain significance	2146602338	RCV001977815;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436126	53436126	53436126	-
NM_006306.4(SMC1A):c.1410T>C (p.Ile470=)	8243	SMC1A	Likely benign	782223677	RCV002147018;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436128	53436128	53436128	-
NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val)	8243	SMC1A	Likely benign	-1	RCV002948400;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436130	53436130	NC_000023.10:g.53436130T>C	-
NM_006306.4(SMC1A):c.1404G>A (p.Arg468=)	8243	SMC1A	Likely benign	-1	RCV002937477;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436134	53436134		-
NM_006306.4(SMC1A):c.1403G>A (p.Arg468Gln)	8243	SMC1A	Uncertain significance	1556890153	RCV001916037\|RCV002478346;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436135	53436135	53436135	-
NM_006306.4(SMC1A):c.1396G>T (p.Ala466Ser)	8243	SMC1A	Uncertain significance	-1	RCV002295717;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436142	53436142	53436142	-
NM_006306.4(SMC1A):c.1388_1389insC (p.Glu464fs)	8243	SMC1A	Pathogenic	1057519398	RCV000417105;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436149	53436150	NC_000023.10:g.53436149_53436150insG	ClinGen:CA16044384	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1370G>C (p.Gly457Ala)	8243	SMC1A	Uncertain significance	-1	RCV002300404;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436168	53436168	53436168	-
NM_006306.4(SMC1A):c.1369G>C (p.Gly457Arg)	8243	SMC1A	Uncertain significance	-1	RCV002795849;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436169	53436169	NC_000023.10:g.53436169C>G	-
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=)	8243	SMC1A	Benign	142531536	RCV001517480;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436191	53436191	53436191	-
NM_006306.4(SMC1A):c.1338-4G>A	8243	SMC1A	Likely benign	2146602390	RCV001498732;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436204	53436204	53436204	-
NM_006306.4(SMC1A):c.1338-4G>C	8243	SMC1A	Uncertain significance	-1	RCV003019597;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436204	53436204	NC_000023.10:g.53436204C>G	-
NM_006306.4(SMC1A):c.1338-12C>G	8243	SMC1A	Likely benign	-1	RCV003066028;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436212	53436212	NC_000023.10:g.53436212G>C	-
NM_006306.4(SMC1A):c.1337+17C>T	8243	SMC1A	Likely benign	2075702882	RCV002096584;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436335	53436335	53436335	-
NM_006306.4(SMC1A):c.1337+9C>T	8243	SMC1A	Benign	376455825	RCV001519367;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436343	53436343	X:g.53436343G>A	-
NM_006306.4(SMC1A):c.1335C>T (p.Ser445=)	8243	SMC1A	Uncertain significance	-1	RCV002881787;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436354	53436354		-
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=)	8243	SMC1A	Benign/Likely benign	144850468	RCV000180295\|RCV000535594\|RCV001541656\|RCV002314672\|RCV002492789;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436366	53436366	X:g.53436366G>A	ClinGen:CA203639	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1299del (p.Lys433fs)	8243	SMC1A	Pathogenic	1602411858	RCV000799059;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436390	53436390	X:g.53436390_53436390del	-
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=)	8243	SMC1A	Likely benign	369057648	RCV001421141;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436399	53436399	53436399	-
NM_006306.4(SMC1A):c.1276_1282del (p.Arg426fs)	8243	SMC1A	Likely pathogenic	-1	RCV003444035;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436407	53436413		-
NM_006306.4(SMC1A):c.1269A>G (p.Gln423=)	8243	SMC1A	Uncertain significance	2075703211	RCV001165579;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436420	53436420	X:g.53436420T>C	-
NM_006306.4(SMC1A):c.1267C>A (p.Gln423Lys)	8243	SMC1A	Likely pathogenic	587784404	RCV000147550;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436422	53436422	X:g.53436422G>T	ClinGen:CA272510	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1255-19T>G	8243	SMC1A	Likely benign	-1	RCV002588918;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53436453	53436453	NC_000023.10:g.53436453A>C	-
NM_006306.4(SMC1A):c.1254+17A>G	8243	SMC1A	Likely benign	2146604554	RCV002152935;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438694	53438694	53438694	-
NM_006306.4(SMC1A):c.1254+11G>C	8243	SMC1A	Conflicting interpretations of pathogenicity	144354524	RCV000147549;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438700	53438700	NC_000023.10:g.53438700C>G	ClinGen:CA272509	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1254+8A>G	8243	SMC1A	Likely benign	2075713975	RCV001393865;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438703	53438703	53438703	-
NM_006306.4(SMC1A):c.1254+5G>A	8243	SMC1A	Uncertain significance	1569358589	RCV000686797\|RCV001771935;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53438706	53438706	NC_000023.10:g.53438706C>T	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1254+4G>A	8243	SMC1A	Conflicting interpretations of pathogenicity	781824288	RCV001301464\|RCV001816764\|RCV001796198\|RCV002313530;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN169374\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	53438707	53438707	NC_000023.10:g.53438707C>T	-
NM_006306.4(SMC1A):c.1235G>A (p.Arg412Gln)	8243	SMC1A	Uncertain significance	781890390	RCV001254177;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438730	53438730	X:g.53438730C>T	-
NM_006306.4(SMC1A):c.1219C>G (p.Leu407Val)	8243	SMC1A	Uncertain significance	-1	RCV003047606;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438746	53438746	NC_000023.10:g.53438746G>C	-
NM_006306.4(SMC1A):c.1212G>A (p.Gln404=)	8243	SMC1A	Likely benign	2146604588	RCV002112385;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438753	53438753	53438753	-
NM_006306.4(SMC1A):c.1203A>C (p.Lys401Asn)	8243	SMC1A	Uncertain significance	2075714119	RCV001231773;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438762	53438762	X:g.53438762T>G	-
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)	8243	SMC1A	Pathogenic	587784403	RCV000147548\|RCV002281963;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53438772	53438772	X:g.53438772C>T	ClinGen:CA272505,UniProtKB:Q14683#VAR_062791	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1190A>G (p.Asn397Ser)	8243	SMC1A	Uncertain significance	782697006	RCV000499405\|RCV000704265\|RCV002527289;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53438775	53438775	X:g.53438775T>C	ClinGen:CA10420591	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)	8243	SMC1A	Benign/Likely benign	147952638	RCV000891014\|RCV001551293\|RCV002481263\|RCV002317881;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044\|MeSH:D030342,MedGen:C0950123	X	53438792	53438792	X:g.53438792C>T	ClinGen:CA10420592	CN239271 Cornelia de Lange Syndrome;
NM_006306.4(SMC1A):c.1171C>T (p.Gln391Ter)	8243	SMC1A	Pathogenic	2146604602	RCV001788517;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438794	53438794	53438794	-
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=)	8243	SMC1A	Likely benign	2075714290	RCV001403592;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438807	53438807	53438807	-
NM_006306.4(SMC1A):c.1150A>G (p.Lys384Glu)	8243	SMC1A	Uncertain significance	2075714342	RCV001195912;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438815	53438815	X:g.53438815T>C	-
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del)	8243	SMC1A	Conflicting interpretations of pathogenicity	797045991	RCV000195085;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438821	53438823	NC_000023.10:g.53438821CTT[2]	ClinGen:CA277433
NM_006306.4(SMC1A):c.1130G>A (p.Arg377Gln)	8243	SMC1A	Uncertain significance	-1	RCV003091265;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438835	53438835	NC_000023.10:g.53438835C>T	-
NM_006306.4(SMC1A):c.1114-2A>G	8243	SMC1A	Pathogenic	1569358628	RCV000680263;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438853	53438853	X:g.53438853T>C	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1114-3C>T	8243	SMC1A	Uncertain significance	-1	RCV002685369\|RCV003138327;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53438854	53438854	NC_000023.10:g.53438854G>A	-
NM_006306.4(SMC1A):c.1114-15C>T	8243	SMC1A	Likely benign	1489497654	RCV002123723;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438866	53438866	53438866	-
NM_006306.4(SMC1A):c.1113+17del	8243	SMC1A	Benign	-1	RCV002663086;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438928	53438928	NC_000023.10:g.53438931del	-
NM_006306.4(SMC1A):c.1102G>A (p.Glu368Lys)	8243	SMC1A	Likely pathogenic	2146604722	RCV002226866;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438956	53438956	53438956	-
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=)	8243	SMC1A	Benign/Likely benign	782695048	RCV000952265\|RCV001484645\|RCV002427382;	N	MedGen:CN517202\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53438957	53438957	X:g.53438957C>T	-
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=)	8243	SMC1A	Likely benign	140585416	RCV000517467\|RCV000639421\|RCV002506261;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438960	53438960	NC_000023.10:g.53438960C>T	ClinGen:CA10420608	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.1059G>A (p.Arg353=)	8243	SMC1A	Likely benign	-1	RCV002646761;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53438999	53438999		-
NM_006306.4(SMC1A):c.1056A>G (p.Glu352=)	8243	SMC1A	Likely benign	-1	RCV002852003;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439002	53439002		-
NM_006306.4(SMC1A):c.1050T>C (p.Phe350=)	8243	SMC1A	Likely benign	2146604747	RCV002114071;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439008	53439008	53439008	-
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=)	8243	SMC1A	Likely benign	782132247	RCV001481137;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439035	53439035	53439035	-
NM_006306.4(SMC1A):c.1014G>C (p.Lys338Asn)	8243	SMC1A	Uncertain significance	-1	RCV002842100;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439044	53439044	NC_000023.10:g.53439044C>G	-
NM_006306.4(SMC1A):c.986G>C (p.Arg329Pro)	8243	SMC1A	Uncertain significance	782449052	RCV002036925;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439072	53439072	53439072	-
NM_006306.4(SMC1A):c.986G>A (p.Arg329His)	8243	SMC1A	Likely benign	782449052	RCV002077487;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439072	53439072	53439072	-
NM_006306.4(SMC1A):c.977A>T (p.Tyr326Phe)	8243	SMC1A	Uncertain significance	-1	RCV002837674;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439081	53439081	NC_000023.10:g.53439081T>A	-
NM_006306.4(SMC1A):c.970A>G (p.Lys324Glu)	8243	SMC1A	Uncertain significance	-1	RCV002303215;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439088	53439088	53439088	-
NM_006306.4(SMC1A):c.951G>A (p.Lys317=)	8243	SMC1A	Likely benign	2146604793	RCV002501615\|RCV001466980;	N	MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439107	53439107	53439107	-
NM_006306.4(SMC1A):c.947A>G (p.Lys316Arg)	8243	SMC1A	Uncertain significance	-1	RCV002604572;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439111	53439111	NC_000023.10:g.53439111T>C	-
NM_006306.4(SMC1A):c.937G>A (p.Glu313Lys)	8243	SMC1A	Uncertain significance	-1	RCV003022887;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439121	53439121	NC_000023.10:g.53439121C>T	-
NM_006306.4(SMC1A):c.920A>G (p.His307Arg)	8243	SMC1A	Uncertain significance	1556890616	RCV000556180;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439138	53439138	X:g.53439138T>C	ClinGen:CA413257876	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.917C>A (p.Ser306Tyr)	8243	SMC1A	Uncertain significance	2146604807	RCV001977137;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439141	53439141	53439141	-
NM_006306.4(SMC1A):c.915C>T (p.Thr305=)	8243	SMC1A	Likely benign	782522248	RCV002066145\|RCV002505391\|RCV002372607;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53439143	53439143	X:g.53439143G>A	-
NM_006306.4(SMC1A):c.867A>G (p.Ser289=)	8243	SMC1A	Likely benign	2146604827	RCV002095918;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439191	53439191	53439191	-
NM_006306.4(SMC1A):c.861G>A (p.Lys287=)	8243	SMC1A	Conflicting interpretations of pathogenicity	782543093	RCV000153976\|RCV001523442;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439197	53439197	X:g.53439197C>T	ClinGen:CA234962	CN169374 not specified;
NM_006306.4(SMC1A):c.859_861del (p.Lys287del)	8243	SMC1A	Uncertain significance	1556890626	RCV000639415;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439197	53439199	NC_000023.10:g.53439199_53439201del	ClinGen:CA658799760	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.855-13C>T	8243	SMC1A	Likely benign	1556890636	RCV002187152;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439216	53439216	53439216	-
NM_006306.4(SMC1A):c.855-15C>T	8243	SMC1A	Conflicting interpretations of pathogenicity	147791932	RCV000147574\|RCV001529468\|RCV002408651;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	X	53439218	53439218	NC_000023.10:g.53439218G>A	ClinGen:CA272598	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.855-17C>T	8243	SMC1A	Likely benign	-1	RCV002814651;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439220	53439220	NC_000023.10:g.53439220G>A	-
NM_006306.4(SMC1A):c.854+17G>A	8243	SMC1A	Benign/Likely benign	781860125	RCV002129675\|RCV002500019;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53439833	53439833	53439833	-
NM_006306.4(SMC1A):c.854+6_854+7del	8243	SMC1A	Benign	1569358983	RCV001241732;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439843	53439844	X:g.53439843_53439844del	-
NM_006306.4(SMC1A):c.825G>A (p.Arg275=)	8243	SMC1A	Benign/Likely benign	150488530	RCV002071172\|RCV002427518;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53439879	53439879	53439879	-
NM_006306.4(SMC1A):c.823C>T (p.Arg275Trp)	8243	SMC1A	Uncertain significance	781812690	RCV002009121;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439881	53439881	53439881	-
NM_006306.4(SMC1A):c.816A>G (p.Lys272=)	8243	SMC1A	Benign	782455775	RCV001510989;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439888	53439888	53439888	-
NM_006306.4(SMC1A):c.812G>A (p.Gly271Asp)	8243	SMC1A	Uncertain significance	2146605306	RCV001963542;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439892	53439892	53439892	-
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)	8243	SMC1A	Pathogenic	727503773	RCV000157049\|RCV000626897;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|6 conditions	X	53439900	53439902	X:g.53439900_53439902del	ClinGen:CA333590	C0241654 Abnormality of the heart valves;
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)	8243	SMC1A	Conflicting interpretations of pathogenicity	782606119	RCV001034190\|RCV003314659;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:CN517202	X	53439940	53439940	X:g.53439940C>T	-
NM_006306.4(SMC1A):c.763C>T (p.Arg255Cys)	8243	SMC1A	Uncertain significance	782209409	RCV001320460;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439941	53439941	53439941	-
NM_006306.4(SMC1A):c.761del (p.Lys254fs)	8243	SMC1A	Pathogenic	2146605339	RCV001987900;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439943	53439943	53439942	-
NM_006306.4(SMC1A):c.756C>T (p.Asp252=)	8243	SMC1A	Benign/Likely benign	370671274	RCV001512919\|RCV002390966;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MeSH:D030342,MedGen:C0950123	X	53439948	53439948	X:g.53439948G>A	-
NM_006306.4(SMC1A):c.756C>G (p.Asp252Glu)	8243	SMC1A	Uncertain significance	370671274	RCV001270902;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439948	53439948	X:g.53439948G>C	-
NM_006306.4(SMC1A):c.744_755del (p.Glu248_Lys251del)	8243	SMC1A	Uncertain significance	2146605357	RCV001904957;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439949	53439960	53439948	-
NM_006306.4(SMC1A):c.753G>A (p.Lys251=)	8243	SMC1A	Likely benign	782297601	RCV002153995;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439951	53439951	53439951	-
NM_006306.4(SMC1A):c.738C>A (p.Asn246Lys)	8243	SMC1A	Uncertain significance	-1	RCV002572493;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439966	53439966	NC_000023.10:g.53439966G>T	-
NM_006306.4(SMC1A):c.733_734del (p.Lys245fs)	8243	SMC1A	Pathogenic	2146605369	RCV001962943;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439970	53439971	53439969	-
NM_006306.4(SMC1A):c.732A>G (p.Ser244=)	8243	SMC1A	Likely benign	1193851590	RCV002216311;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53439972	53439972	53439972	-
NM_006306.4(SMC1A):c.716A>G (p.Asn239Ser)	8243	SMC1A	Uncertain significance	782172948	RCV001986144\|RCV003448444;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53439988	53439988	53439988	-
NM_006306.4(SMC1A):c.699G>A (p.Val233=)	8243	SMC1A	Benign/Likely benign	145319852	RCV000153977\|RCV000545929\|RCV001577820\|RCV002312685\|RCV002478449;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53440005	53440005	X:g.53440005C>T	ClinGen:CA180446	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.678T>C (p.Phe226=)	8243	SMC1A	Likely benign	2146605400	RCV002218081;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440026	53440026	53440026	-
NM_006306.4(SMC1A):c.675C>T (p.Leu225=)	8243	SMC1A	Likely benign	782182228	RCV001425504;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440029	53440029	53440029	-
NM_006306.4(SMC1A):c.669G>C (p.Leu223=)	8243	SMC1A	Likely benign	1556890780	RCV001460264;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440035	53440035	53440035	-
NM_006306.4(SMC1A):c.666G>A (p.Gln222=)	8243	SMC1A	Likely benign	2146605417	RCV002081534;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440038	53440038	53440038	-
NM_006306.4(SMC1A):c.655del (p.Ala219fs)	8243	SMC1A	Pathogenic	1569359048	RCV000680260;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440049	53440049	NC_000023.10:g.53440051del	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.653G>A (p.Arg218Gln)	8243	SMC1A	Uncertain significance	-1	RCV002730105;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440051	53440051	NC_000023.10:g.53440051C>T	-
NM_006306.4(SMC1A):c.652C>T (p.Arg218Trp)	8243	SMC1A	Likely benign	782811561	RCV002075129;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440052	53440052	53440052	-
NM_006306.4(SMC1A):c.641A>G (p.Asp214Gly)	8243	SMC1A	Uncertain significance	-1	RCV003051510;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440063	53440063	NC_000023.10:g.53440063T>C	-
NM_006306.4(SMC1A):c.628C>T (p.Gln210Ter)	8243	SMC1A	Pathogenic	2146605443	RCV001915104;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440076	53440076	53440076	-
NM_006306.4(SMC1A):c.616-2A>G	8243	SMC1A	Pathogenic	587784423	RCV000147572;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440090	53440090	NC_000023.10:g.53440090T>C	ClinGen:CA272597	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.616-6G>A	8243	SMC1A	Benign/Likely benign	587784424	RCV000147573\|RCV000872759\|RCV001651005\|RCV002492536;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440094	53440094	NC_000023.10:g.53440094C>T	ClinGen:CA173520	CN169374 not specified;
NM_006306.4(SMC1A):c.616-7del	8243	SMC1A	Likely benign	1312306004	RCV001476917;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440095	53440095	X:g.53440095_53440095del	-
NM_006306.4(SMC1A):c.616-19C>T	8243	SMC1A	Likely benign	-1	RCV002725460;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440107	53440107	NC_000023.10:g.53440107G>A	-
NM_006306.4(SMC1A):c.615+14C>T	8243	SMC1A	Likely benign	-1	RCV002843410;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440168	53440168	NC_000023.10:g.53440168G>A	-
NM_006306.4(SMC1A):c.615+8G>A	8243	SMC1A	Likely benign	-1	RCV003092184;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440174	53440174	NC_000023.10:g.53440174C>T	-
NM_006306.4(SMC1A):c.615+2T>C	8243	SMC1A	Pathogenic	868985177	RCV000990834;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440180	53440180	X:g.53440180A>G	-
NM_006306.4(SMC1A):c.594A>G (p.Glu198=)	8243	SMC1A	Likely benign	1556890814	RCV002065910;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440203	53440203	X:g.53440203T>C	-
NM_006306.4(SMC1A):c.587G>A (p.Arg196His)	8243	SMC1A	Pathogenic	1556890815	RCV000639414;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440210	53440210	NC_000023.10:g.53440210C>T	ClinGen:CA413259183	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)	8243	SMC1A	Pathogenic	587784422	RCV000147571;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440211	53440211	X:g.53440211G>A	ClinGen:CA272592	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.586C>G (p.Arg196Gly)	8243	SMC1A	Pathogenic	587784422	RCV001389992;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440211	53440211	53440211	-
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter)	8243	SMC1A	Likely pathogenic	1602413582	RCV000990835;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440214	53440214	X:g.53440214C>A	-
NM_006306.4(SMC1A):c.579G>A (p.Ala193=)	8243	SMC1A	Likely benign	199571320	RCV000925437;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440218	53440218	X:g.53440218C>T	-
NM_006306.4(SMC1A):c.562C>T (p.Arg188Cys)	8243	SMC1A	Uncertain significance	2146605558	RCV001887128;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440235	53440235	53440235	-
NM_006306.4(SMC1A):c.552T>C (p.Phe184=)	8243	SMC1A	Likely benign	1556890821	RCV001439074;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440245	53440245	X:g.53440245A>G	-
NM_006306.4(SMC1A):c.547_548del (p.Gln183fs)	8243	SMC1A	Pathogenic	2146605568	RCV001994883;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440249	53440250	53440248	-
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter)	8243	SMC1A	Pathogenic	587784421	RCV000147570;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440250	53440250	X:g.53440250G>A	ClinGen:CA272587	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.528G>A (p.Val176=)	8243	SMC1A	Likely benign	1359837999	RCV002154902;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440269	53440269	53440269	-
NM_006306.4(SMC1A):c.526G>A (p.Val176Met)	8243	SMC1A	Uncertain significance	-1	RCV002690248;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440271	53440271	NC_000023.10:g.53440271C>T	-
NM_006306.4(SMC1A):c.512G>A (p.Arg171Gln)	8243	SMC1A	Uncertain significance	2075720519	RCV001201950;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440285	53440285	X:g.53440285C>T	-
NM_006306.4(SMC1A):c.511C>T (p.Arg171Ter)	8243	SMC1A	Pathogenic	-1	RCV002470576;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440286	53440286	NC_000023.10:g.53440286G>A	-
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg)	8243	SMC1A	Benign	2146605622	RCV002093946;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440300	53440300	53440300	-
NM_006306.4(SMC1A):c.495G>A (p.Ala165=)	8243	SMC1A	Likely benign	782260918	RCV001479273;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440302	53440302	53440302	-
NM_006306.4(SMC1A):c.494C>T (p.Ala165Val)	8243	SMC1A	Uncertain significance	1556890833	RCV000813864\|RCV002495143;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440303	53440303	X:g.53440303G>A	-
NM_006306.4(SMC1A):c.489G>A (p.Glu163=)	8243	SMC1A	Likely benign	-1	RCV002948555;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440308	53440308		-
NM_006306.4(SMC1A):c.483T>C (p.Ser161=)	8243	SMC1A	Likely benign	782286610	RCV002076456;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440314	53440314	53440314	-
NM_006306.4(SMC1A):c.481del (p.Ser161fs)	8243	SMC1A	Pathogenic	2146605644	RCV001389582;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440316	53440316	53440315	-
NM_006306.4(SMC1A):c.480T>A (p.Arg160=)	8243	SMC1A	Likely benign	782369322	RCV000501025\|RCV002524300;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440317	53440317	NC_000023.10:g.53440317A>T	ClinGen:CA10420661	CN169374 not specified;
NM_006306.4(SMC1A):c.474T>C (p.Ile158=)	8243	SMC1A	Likely benign	-1	RCV002825749;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440323	53440323		-
NM_006306.4(SMC1A):c.462A>G (p.Leu154=)	8243	SMC1A	Likely benign	2146605662	RCV001415923;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440335	53440335	53440335	-
NM_006306.4(SMC1A):c.458C>T (p.Ala153Val)	8243	SMC1A	Conflicting interpretations of pathogenicity	1171109209	RCV001732506\|RCV002032718;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440339	53440339	53440339	-
NM_006306.4(SMC1A):c.453G>A (p.Arg151=)	8243	SMC1A	Likely benign	782287101	RCV001481656;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440344	53440344	53440344	-
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)	8243	SMC1A	Uncertain significance	2075720794	RCV001213339;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440345	53440345	X:g.53440345C>T	-
NM_006306.4(SMC1A):c.444C>G (p.Pro148=)	8243	SMC1A	Likely benign	-1	RCV002628905;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440353	53440353		-
NM_006306.4(SMC1A):c.429T>C (p.Ile143=)	8243	SMC1A	Likely benign	782366028	RCV001404140\|RCV002504675;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440368	53440368	53440368	-
NM_006306.4(SMC1A):c.428T>G (p.Ile143Ser)	8243	SMC1A	Uncertain significance	2146605688	RCV001942558;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440369	53440369	53440369	-
NM_006306.4(SMC1A):c.421G>A (p.Glu141Lys)	8243	SMC1A	Likely pathogenic	587784420	RCV000147569;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440376	53440376	X:g.53440376C>T	ClinGen:CA272583,UniProtKB:Q14683#VAR_062787	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.412-9C>T	8243	SMC1A	Likely benign	-1	RCV002968096;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440394	53440394	NC_000023.10:g.53440394G>A	-
NM_006306.4(SMC1A):c.412-10C>T	8243	SMC1A	Benign	149219651	RCV000081386\|RCV000531305\|RCV001711193;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53440395	53440395	X:g.53440395G>A	ClinGen:CA148486	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.412-12G>T	8243	SMC1A	Likely benign	-1	RCV002815033;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440397	53440397	NC_000023.10:g.53440397C>A	-
NM_006306.4(SMC1A):c.412-14T>G	8243	SMC1A	Benign	782106342	RCV002086833;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53440399	53440399	53440399	-
NM_006306.4(SMC1A):c.411+6C>T	8243	SMC1A	Conflicting interpretations of pathogenicity	782515915	RCV000584892\|RCV001303311;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441701	53441701	X:g.53441701G>A	ClinGen:CA10420674	CN517202 not provided;
NM_006306.4(SMC1A):c.411+1G>C	8243	SMC1A	Likely pathogenic	2146606502	RCV002249174;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441706	53441706	53441706	-
NM_006306.4(SMC1A):c.402C>T (p.Leu134=)	8243	SMC1A	Likely benign	1211706449	RCV001408482;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441716	53441716	53441716	-
NM_006306.4(SMC1A):c.399C>T (p.Phe133=)	8243	SMC1A	Likely benign	1463042305	RCV002142607;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441719	53441719	53441719	-
NM_006306.4(SMC1A):c.397T>G (p.Phe133Val)	8243	SMC1A	Pathogenic	2075725792	RCV001048385;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441721	53441721	X:g.53441721A>C	-
NM_006306.4(SMC1A):c.392del (p.Arg131fs)	8243	SMC1A	Pathogenic	2075725850	RCV001062141;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441726	53441726	X:g.53441726_53441726del	-
NM_006306.4(SMC1A):c.392G>A (p.Arg131His)	8243	SMC1A	Uncertain significance	781903928	RCV001059173;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441726	53441726	X:g.53441726C>T	-
NM_006306.4(SMC1A):c.391C>T (p.Arg131Cys)	8243	SMC1A	Uncertain significance	-1	RCV003055605;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441727	53441727	NC_000023.10:g.53441727G>A	-
NM_006306.4(SMC1A):c.386A>G (p.Lys129Arg)	8243	SMC1A	Uncertain significance	1223252947	RCV001987995;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441732	53441732	53441732	-
NM_006306.4(SMC1A):c.374del (p.Gly125fs)	8243	SMC1A	Pathogenic	-1	RCV003009630;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441744	53441744	NC_000023.10:g.53441746del	-
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe)	8243	SMC1A	Likely benign	148835205	RCV000976394\|RCV001456061\|RCV002503113;	N	MedGen:CN517202\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199; MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53441746	53441746	X:g.53441746C>G	-
NM_006306.4(SMC1A):c.371T>A (p.Leu124Ter)	8243	SMC1A	Pathogenic	-1	RCV003009631;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441747	53441747	NC_000023.10:g.53441747A>T	-
NM_006306.4(SMC1A):c.351C>T (p.Tyr117=)	8243	SMC1A	Likely benign	-1	RCV003057772;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441767	53441767		-
NM_006306.4(SMC1A):c.304T>G (p.Ser102Ala)	8243	SMC1A	Uncertain significance	2146606564	RCV001371240;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441814	53441814	53441814	-
NM_006306.4(SMC1A):c.302del (p.Gly101fs)	8243	SMC1A	Pathogenic	2146606566	RCV001880988;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441816	53441816	53441815	-
NM_006306.4(SMC1A):c.299-14G>A	8243	SMC1A	Likely benign	2146606574	RCV002136101;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441833	53441833	53441833	-
NM_006306.4(SMC1A):c.299-15T>G	8243	SMC1A	Uncertain significance	782364230	RCV002044280;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441834	53441834	53441834	-
NM_006306.4(SMC1A):c.298+19A>G	8243	SMC1A	Benign/Likely benign	113817745	RCV001590222\|RCV002070450\|RCV002506693;	N	MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441911	53441911	53441911	-
NM_006306.4(SMC1A):c.298+12T>C	8243	SMC1A	Likely benign	782781148	RCV000251990\|RCV002058209;	N	MedGen:CN169374\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441918	53441918	X:g.53441918A>G	ClinGen:CA10420689	CN169374 not specified;
NM_006306.4(SMC1A):c.298+9G>A	8243	SMC1A	Likely benign	1556891082	RCV001429214;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441921	53441921	X:g.53441921C>T	-
NM_006306.4(SMC1A):c.298G>C (p.Gly100Arg)	8243	SMC1A	Uncertain significance	1569359487	RCV000679806;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441930	53441930	X:g.53441930C>G	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del)	8243	SMC1A	Likely pathogenic	-1	RCV003231015;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441940	53441951		-
NM_006306.4(SMC1A):c.286C>T (p.Arg96Cys)	8243	SMC1A	Pathogenic	2146606642	RCV001940623;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441942	53441942	53441942	-
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)	8243	SMC1A	Conflicting interpretations of pathogenicity	587784414	RCV000147562;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441943	53441943	X:g.53441943G>C	ClinGen:CA272555	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.261_272del (p.Glu87_Glu90del)	8243	SMC1A	Uncertain significance	1569359505	RCV000705752;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441956	53441967	X:g.53441956_53441967del	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)	8243	SMC1A	Benign	-1	RCV002895150;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441958	53441958	NC_000023.10:g.53441958C>G	-
NM_006306.4(SMC1A):c.243C>T (p.Ser81=)	8243	SMC1A	Likely benign	-1	RCV002811270;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53441985	53441985		-
NM_006306.4(SMC1A):c.227A>G (p.Asn76Ser)	8243	SMC1A	Likely benign	200243549	RCV000687190;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442001	53442001	X:g.53442001T>C	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.192G>C (p.Leu64=)	8243	SMC1A	Likely benign	2146606701	RCV001489032;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442036	53442036	53442036	-
NM_006306.4(SMC1A):c.173_187del (p.Val58_Arg62del)	8243	SMC1A	Pathogenic	-1	RCV000012440;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442041	53442055	53442040	LOVD 3:SMC1A_000005,OMIM:300040.0003
NM_006306.4(SMC1A):c.174A>G (p.Val58=)	8243	SMC1A	Benign	200428075	RCV002090981;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442054	53442054	53442054	-
NM_006306.4(SMC1A):c.157dup (p.Thr53fs)	8243	SMC1A	Pathogenic	2075726992	RCV001334531;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442070	53442071	53442070	-
NM_006306.4(SMC1A):c.140T>G (p.Phe47Cys)	8243	SMC1A	Uncertain significance	1569359530	RCV000679805;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442088	53442088	X:g.53442088A>C	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.128A>T (p.Asp43Val)	8243	SMC1A	Likely pathogenic	1569359535	RCV000680259;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442100	53442100	X:g.53442100T>A	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.124A>G (p.Met42Val)	8243	SMC1A	Conflicting interpretations of pathogenicity	1556891104	RCV000500991;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442104	53442104	X:g.53442104T>C	ClinGen:CA413133133	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter)	8243	SMC1A	Pathogenic	1057518670	RCV000415358;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442112	53442112	X:g.53442112G>C	ClinGen:CA16043711	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.110G>T (p.Gly37Val)	8243	SMC1A	Likely pathogenic	1569359540	RCV000680258;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442118	53442118	X:g.53442118C>A	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.110-16G>A	8243	SMC1A	Likely benign	929835697	RCV002174226;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442134	53442134	53442134	-
NM_006306.4(SMC1A):c.110-17C>T	8243	SMC1A	Likely benign	-1	RCV002604885;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53442135	53442135	NC_000023.10:g.53442135G>A	-
NC_000023.10:g.(?_53448825)_(53449569_?)del	8243	SMC1A	Pathogenic	-1	RCV001033160;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53448825	53449569	-1	-
NM_006306.4(SMC1A):c.109+575dup	8243	SMC1A	Pathogenic	2075758478	RCV001775318;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53448866	53448867	53448866	-
NM_006306.4(SMC1A):c.109+19C>A	8243	SMC1A	Likely benign	933977903	RCV002182861;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449422	53449422	53449422	-
NM_006306.4(SMC1A):c.109+13T>G	8243	SMC1A	Likely benign	782668468	RCV002127149\|RCV002494254;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044; MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449428	53449428	53449428	-
NC_000023.10:g.(?_53449431)_(53449549_?)del	8243	SMC1A	Pathogenic	-1	RCV001385278;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449431	53449549	-1	-
NM_006306.4(SMC1A):c.102T>C (p.Asn34=)	8243	SMC1A	Likely benign	782100278	RCV002198405;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449448	53449448	53449448	-
NM_006306.4(SMC1A):c.95G>A (p.Gly32Glu)	8243	SMC1A	Likely pathogenic	1556892359	RCV000660365;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449455	53449455	X:g.53449455C>T	-	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.81C>T (p.Phe27=)	8243	SMC1A	Likely benign	2075764568	RCV002187901;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449469	53449469	53449469	-
NM_006306.4(SMC1A):c.63C>T (p.Ile21=)	8243	SMC1A	Likely benign	781999328	RCV000639420;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449487	53449487	X:g.53449487G>A	ClinGen:CA10420756	C1802395 300590 Congenital muscular hypertrophy-cerebral syndrome;
NM_006306.4(SMC1A):c.42G>C (p.Ser14=)	8243	SMC1A	Likely benign	1463770411	RCV002193960;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449508	53449508	53449508	-
NM_006306.4(SMC1A):c.37A>C (p.Lys13Gln)	8243	SMC1A	Uncertain significance	2075764777	RCV001055709;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449513	53449513	X:g.53449513T>G	-
NM_006306.4(SMC1A):c.34T>G (p.Phe12Val)	8243	SMC1A	Uncertain significance	2146614101	RCV001990963;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449516	53449516	53449516	-
NM_006306.4(SMC1A):c.27T>C (p.Ile9=)	8243	SMC1A	Likely benign	1396001151	RCV001441424;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449523	53449523	53449523	-
NM_006306.4(SMC1A):c.15A>G (p.Lys5=)	8243	SMC1A	Likely benign	782396631	RCV001367836\|RCV001732143;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MedGen:C3661900	X	53449535	53449535	53449535	-
NM_006306.4(SMC1A):c.12G>C (p.Leu4=)	8243	SMC1A	Likely benign	2146614125	RCV002209337;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449538	53449538	53449538	-
NM_006306.4(SMC1A):c.10del (p.Phe3_Leu4insTer)	8243	SMC1A	Pathogenic	2146614137	RCV001381926;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449540	53449540	53449539	-
NM_006306.4(SMC1A):c.4G>C (p.Gly2Arg)	8243	SMC1A	Uncertain significance	-1	RCV003041671;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449546	53449546	NC_000023.10:g.53449546C>G	-
NM_006306.4(SMC1A):c.-1C>T	8243	SMC1A	Uncertain significance	797044618	RCV000173402\|RCV000760215;	N	MedGen:CN517202\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449550	53449550	NC_000023.10:g.53449550G>A	ClinGen:CA238857
NM_006306.4(SMC1A):c.-7G>A	8243	SMC1A	Uncertain significance	1368401429	RCV001167172;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449556	53449556	X:g.53449556C>T	-
NM_006306.4(SMC1A):c.-19C>T	8243	SMC1A	Benign	1264011	RCV000081383\|RCV000260444\|RCV001711246\|RCV001808312\|RCV001808313;	N	MedGen:CN169374\|MONDO:MONDO:0016033,MedGen:C0270972,OMIM:PS122470, Orphanet:199\|MedGen:C3661900\|MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199\|MONDO:MONDO:0026771,MedGen:C5393312,OMIM:301044	X	53449568	53449568	X:g.53449568G>A	ClinGen:CA148479	CN239271 Cornelia de Lange Syndrome;
NM_001281463.1(SMC1A):c.-275G>T	8243	SMC1A	Uncertain significance	1026058160	RCV001167173;	N	MONDO:MONDO:0010370,MedGen:C1802395,OMIM:300590, Orphanet:199	X	53449612	53449612	X:g.53449612C>A	-

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