ClinVar Miner

List of variants studied for X-linked disease by Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir

Included ClinVar conditions (275):

ATP6AP2-related disorder
ATR-X-related syndrome
Aarskog syndrome
Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1
Adrenoleukodystrophy
Adrenoleukodystrophy; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Allan-Herndon-Dudley syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1
Angelman syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity
Autism, susceptibility to, X-linked 5; Intellectual disability, X-linked, syndromic, 35
Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; X-linked mixed hearing loss with perilymphatic gusher; Hidrotic ectodermal dysplasia syndrome
Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher
Blepharophimosis - intellectual disability syndrome, MKB type
Borjeson-Forssman-Lehmann syndrome
Brunner syndrome
Cardiac valvular dysplasia, X-linked
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1
Cardiac valvular dysplasia, X-linked; Heterotopia, periventricular, X-linked dominant; Otopalatodigital Spectrum Disorders
Cerebellar vermis hypoplasia; Intellectual disability, X-linked 102
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease type X
Chondrodysplasia punctata 2 X-linked dominant
Chondrodysplasia punctata 2 X-linked dominant; MEND syndrome
Choroideremia
Chromosome Xp11.22 duplication syndrome
Chromosome Xq28 duplication syndrome
Coffin-Lowry syndrome
Coffin-Lowry syndrome; Intellectual disability, X-linked 19
Cone dystrophy 1, X-linked
Cone dystrophy 5, X-linked
Cone monochromatism
Cone-rod synaptic disorder, congenital nonprogressive
Congenital adrenal hypoplasia, X-linked
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2
Congenital stationary night blindness 1A
Congenital stationary night blindness 1B
Congenital stationary night blindness 1C
Congenital stationary night blindness 1D
Congenital stationary night blindness 1E
Congenital stationary night blindness 1F
Congenital stationary night blindness 1G
Congenital stationary night blindness 2A
Congenital stationary night blindness autosomal dominant 1
Congenital stationary night blindness autosomal dominant 1; Pigmentary retinal dystrophy; Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 1; Retinitis pigmentosa 4
Congenital stationary night blindness autosomal dominant 2
Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa 40
Congenital stationary night blindness autosomal dominant 3
Congenital stationary night blindness autosomal dominant 3; Congenital stationary night blindness 1G
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Corpus callosum, agenesis of; Multicystic kidney dysplasia; Intellectual disability, X-linked 100; Hydrocephalus; Ventriculomegaly
Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3
Deafness, X-linked 5
Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; Partington syndrome
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome
Developmental and epileptic encephalopathy, 8
Developmental and epileptic encephalopathy, 9
Diabetes insipidus, nephrogenic, X-linked
Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of inappropriate antidiuresis
Dyskeratosis congenita, X-linked
Dyskeratosis congenita, autosomal dominant 6
Early-onset parkinsonism-intellectual disability syndrome
Emery-Dreifuss muscular dystrophy 1, X-linked
Emery-Dreifuss muscular dystrophy 6
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual disability, X-linked 50
Exudative vitreoretinopathy 2, X-linked
FG syndrome
FG syndrome 1
FRAXE
Factor V deficiency; Hereditary factor VIII deficiency disease; Factor V and factor VIII, combined deficiency of, type 1
Familial X-linked hypophosphatemic vitamin D refractory rickets
Focal dermal hypoplasia
Focal dermal hypoplasia; Anophthalmia-microphthalmia syndrome
Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Premature ovarian failure 1
Fragile X-associated tremor/ataxia syndrome
Hearing loss, X-linked 1
Hearing loss, X-linked 4
Hearing loss, X-linked 6
Hereditary factor VIII deficiency disease
Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 1
Holoprosencephaly 13, X-linked
Hoyeraal-Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 4
Hoyeraal-Hreidarsson syndrome; Revesz syndrome; Dyskeratosis congenita, autosomal dominant 3
Hyper-IgM syndrome type 1
Hyperimmunoglobulin M syndrome
Hypohidrotic X-linked ectodermal dysplasia
Hypohidrotic X-linked ectodermal dysplasia; Tooth agenesis, selective, X-linked, 1
Hypophosphatemic rickets, X-linked recessive
IFAP syndrome 1, with or without BRESHECK syndrome
Intellectual developmental disorder, X-linked 108
Intellectual developmental disorder, X-linked 110
Intellectual developmental disorder, X-linked 111
Intellectual developmental disorder, X-linked 112
Intellectual developmental disorder, X-linked, syndromic 16
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type
Intellectual developmental disorder, X-linked, syndromic, Pilorge type
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
Intellectual developmental disorder, x-linked 113
Intellectual disability, X-linked 1
Intellectual disability, X-linked 100
Intellectual disability, X-linked 101
Intellectual disability, X-linked 102
Intellectual disability, X-linked 103
Intellectual disability, X-linked 104
Intellectual disability, X-linked 105
Intellectual disability, X-linked 106
Intellectual disability, X-linked 107
Intellectual disability, X-linked 19
Intellectual disability, X-linked 21
Intellectual disability, X-linked 30
Intellectual disability, X-linked 41
Intellectual disability, X-linked 45
Intellectual disability, X-linked 46
Intellectual disability, X-linked 49
Intellectual disability, X-linked 50
Intellectual disability, X-linked 58
Intellectual disability, X-linked 61
Intellectual disability, X-linked 63
Intellectual disability, X-linked 72
Intellectual disability, X-linked 72; Early-onset parkinsonism-intellectual disability syndrome
Intellectual disability, X-linked 88
Intellectual disability, X-linked 9
Intellectual disability, X-linked 90
Intellectual disability, X-linked 91
Intellectual disability, X-linked 93
Intellectual disability, X-linked 96
Intellectual disability, X-linked 97
Intellectual disability, X-linked 99
Intellectual disability, X-linked 99, syndromic, female-restricted
Intellectual disability, X-linked 99; Intellectual disability, X-linked 101
Intellectual disability, X-linked 99; Intellectual disability, X-linked 99, syndromic, female-restricted
Intellectual disability, X-linked syndromic, Turner type
Intellectual disability, X-linked, syndromic 33
Intellectual disability, X-linked, syndromic, 35
Intellectual disability, X-linked, syndromic, Bain type
Intellectual disability, X-linked, syndromic, Houge type
Intellectual disability, X-linked, with or without seizures, arx-related
Intellectual disability, X-linked, with or without seizures, arx-related; ARX-related epileptic encephalopathy
Intellectual disability, X-linked, with panhypopituitarism
Intellectual disability, X-linked, with panhypopituitarism; Panhypopituitarism, X-linked
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Juvenile retinoschisis
Juvenile retinoschisis; Macular schisis; Peripheral schisis
Leukemia, acute, X-linked
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome
MASA syndrome; X-linked hydrocephalus syndrome
MED12-related intellectual disability syndrome
MEHMO syndrome
Melnick-Needles syndrome
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3
Methylmalonic acidemia with homocystinuria, type cblX
Microphthalmia, syndromic 1
Microphthalmia, syndromic 1; Oculofaciocardiodental syndrome
Microphthalmia, syndromic 1; Ogden syndrome
Mild hemophilia A
Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked
Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy
Non-ketotic hyperglycinemia; Developmental and epileptic encephalopathy, 9
Non-syndromic X-linked intellectual disability
Ocular albinism, type I
Ocular albinism, type I; Nystagmus 6, congenital, X-linked
Ocular albinism, type II
Ocular albinism, type II; X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A
Ogden syndrome
Paganini-Miozzo syndrome
Partington syndrome
Pettigrew syndrome
Pettigrew syndrome; Fried syndrome
Prieto syndrome
Renpenning syndrome
Retinitis pigmentosa 6
Severe X-linked intellectual disability, Gustavson type
Severe X-linked myotubular myopathy
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3
Spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia tarda, X-linked
Syndromic X-linked intellectual disability 14
Syndromic X-linked intellectual disability 34
Syndromic X-linked intellectual disability 94
Syndromic X-linked intellectual disability Claes-Jensen type
Syndromic X-linked intellectual disability Hedera type
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome; Congenital disorder of glycosylation, type IIr
Syndromic X-linked intellectual disability Lubs type
Syndromic X-linked intellectual disability Lubs type; Rett syndrome
Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome
Syndromic X-linked intellectual disability Najm type
Syndromic X-linked intellectual disability Najm type; FG syndrome 4
Syndromic X-linked intellectual disability Najm type; FG syndrome 4; Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Syndromic X-linked intellectual disability Najm type; Intellectual disability, X-linked 102
Syndromic X-linked intellectual disability Nascimento type
Syndromic X-linked intellectual disability Raymond type
Syndromic X-linked intellectual disability Shashi type
Syndromic X-linked intellectual disability Siderius type
Syndromic X-linked intellectual disability Snyder type
Vitamin D-dependent rickets, type 2
Wilson-Turner syndrome
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome 2
X-linked Alport syndrome
X-linked Emery-Dreifuss muscular dystrophy
X-linked Opitz G/BBB syndrome
X-linked acrogigantism due to Xq26 microduplication
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked cerebral adrenoleukodystrophy
X-linked chondrodysplasia punctata 1
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
X-linked complex neurodevelopmental disorder
X-linked cone-rod dystrophy
X-linked cone-rod dystrophy 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic
X-linked cone-rod dystrophy 3
X-linked cone-rod dystrophy 3; Congenital stationary night blindness 2A
X-linked congenital hemolytic anemia
X-linked congenital stationary night blindness
X-linked deafness
X-linked distal spinal muscular atrophy type 3
X-linked dystonia-parkinsonism; Intellectual disability, X-linked, syndromic 33
X-linked erythropoietic protoporphyria
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked hydrocephalus syndrome
X-linked ichthyosis with steryl-sulfatase deficiency
X-linked intellectual disability
X-linked intellectual disability Cabezas type
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Stocco dos Santos type
X-linked intellectual disability, van Esch type
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
X-linked intellectual disability-short stature-overweight syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative disease due to XIAP deficiency; X-linked lymphoproliferative disease due to SH2D1A deficiency
X-linked lymphoproliferative syndrome
X-linked mixed hearing loss with perilymphatic gusher
X-linked myopathy with postural muscle atrophy
X-linked myopathy with postural muscle atrophy; X-linked scapuloperoneal muscular dystrophy
X-linked nonsyndromic hearing loss
X-linked parkinsonism-spasticity syndrome
X-linked progressive cerebellar ataxia
X-linked reticulate pigmentary disorder; X-linked intellectual disability, van Esch type
X-linked severe congenital neutropenia
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome
X-linked sideroblastic anemia 1
X-linked sideroblastic anemia with ataxia
X-linked syndromic intellectual disability

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Total variants: 0

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