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Dr.Nikuei Genetic Center

General information

Dr.Nikuei Genetic Center

Vahdat , Naser Square
Bandar Abbas
Iran - 7916836147
https://www.nikueigeneticcenter.com/
Organization ID: 509464

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 189

Gene

GeneSubmissionsLast Updated
AAAS1Aug 22, 2024
AAGAB1Aug 22, 2024
AASS1Aug 22, 2024
ABCA121Aug 22, 2024
ABCA41Jun 17, 2024
ABCB63Aug 22, 2024
ABCC82Aug 22, 2024
ACAN1Aug 22, 2024
ACOX11Aug 22, 2024
ACOX21Aug 22, 2024
ACSF31Aug 22, 2024
ACSL41Aug 22, 2024
ACTN11Aug 22, 2024
ACTN21Aug 22, 2024
ADAMTSL41Aug 22, 2024
ADAR1Aug 22, 2024
ADD31Aug 22, 2024
ADGRE25Aug 22, 2024
AFF41Aug 22, 2024
AFP1Aug 22, 2024
AGBL14Aug 22, 2024
AGTPBP11Aug 22, 2024
AHDC12Aug 22, 2024
ALAS21Aug 22, 2024
ALG134Aug 22, 2024
ALMS11May 17, 2024
ALOXE31Aug 22, 2024
ALX31Aug 22, 2024
ANK12Aug 22, 2024
ANKH1Aug 22, 2024
ANKRD111Aug 22, 2024
ANKRD261Aug 22, 2024
ANLN2Aug 22, 2024
ANO31Aug 22, 2024
ANO51Aug 22, 2024
AP3B11May 3, 2025
AP4S11Jun 17, 2024
APOB1Aug 22, 2024
ARFGEF11Jul 18, 2024
ARHGDIA1Aug 22, 2024
ARID1B1Aug 22, 2024
ARSA1Jun 16, 2024
ARSB1Aug 22, 2024
ARSL1Aug 22, 2024
ASB101Jul 5, 2024
ATAD3A1Aug 22, 2024
ATF61Aug 22, 2024
ATL31Aug 22, 2024
ATM1Aug 22, 2024
ATN11Jul 8, 2024
ATP1A21Jul 8, 2024
ATP1A31Aug 22, 2024
ATP2A21Aug 22, 2024
ATP2B31Aug 22, 2024
ATP8A21Aug 22, 2024
BBS71Jun 22, 2024
BEAN11Jun 28, 2024
CCDC81Aug 22, 2024
CCN61Aug 22, 2024
CDK101May 15, 2024
CFTR1Jun 16, 2024
CFTR-AS11Jun 16, 2024
CLN51Jun 22, 2024
COL7A11Jun 15, 2024
CPLANE11Jun 17, 2024
CPS11Jun 17, 2024
CRYAA1Jun 17, 2024
CTSK1Jun 19, 2024
DDHD11Aug 22, 2024
DIAPH11Aug 28, 2024
DMP1-AS11Jun 19, 2024
DNAJB61Jun 28, 2024
DSPP1Jun 19, 2024
ERCC31Aug 22, 2024
ESRRB1Jun 20, 2024
EXOC6B1Aug 6, 2024
EYA11Jul 5, 2024
FAM111B1Jun 28, 2024
FBN12Aug 22, 2024
FKBP101Aug 22, 2024
GALNS2Aug 22, 2024
GATAD2B1Aug 22, 2024
GBA11Jun 16, 2024
GCDH1Aug 22, 2024
GLRA11Jul 18, 2024
GMPPB1Jun 22, 2024
GPHN1Aug 22, 2024
HACE11Jun 17, 2024
HES71Jul 24, 2024
HIVEP21Jun 22, 2024
HMGCL1Aug 22, 2024
HPS61Jun 27, 2024
IL17RD1Jun 25, 2024
IQCB11Aug 22, 2024
ITGA71Jun 17, 2024
ITGB41Jul 24, 2024
KIF141Jun 17, 2024
KIF71Aug 29, 2024
KMT2B1Jun 29, 2024
KRT41Jun 18, 2024
LAMA21Aug 22, 2024
LHFPL51May 17, 2024
LIG11Jun 27, 2024
LIM21Aug 22, 2024
LOC1027244521Aug 22, 2024
LOC1066279811Jun 16, 2024
LOC1079822341Jul 5, 2024
LOC1082811771Jun 17, 2024
LOC1239562101Aug 22, 2024
LOC1268057931Jun 17, 2024
LOC1268066891Jun 25, 2024
LOC1268616371Aug 22, 2024
LOC1299975251Aug 22, 2024
LOC1300019601Aug 22, 2024
MAGEL21Jun 22, 2024
MED131Jun 17, 2024
MFSD81Jul 8, 2024
MKKS1Jul 6, 2024
MYCN1May 17, 2024
MYCNOS1May 17, 2024
MYH81Jul 5, 2024
MYHAS1Jul 5, 2024
MYO15A1Jul 18, 2024
MYO3A1Aug 22, 2024
MYO7A2Aug 22, 2024
NCR11May 23, 2025
NDUFS11Jun 22, 2024
NECTIN11Jun 27, 2024
NF12Jul 6, 2024
NLRP31Aug 22, 2024
NLRP71May 23, 2025
NOD21Jun 17, 2024
NPC21Jun 16, 2024
NPHS21Jun 17, 2024
PCDH151May 17, 2024
PDE11A1Jun 20, 2024
PGAP31Aug 24, 2024
PKD11Jul 23, 2024
PKLR1Aug 22, 2024
PTPN111Jun 19, 2024
RAB3GAP11Jun 17, 2024
RAB3GAP21Aug 22, 2024
RDH121Aug 22, 2024
RDX1Jun 17, 2024
RPL101Jun 16, 2024
SCNN1A1Aug 24, 2024
SCNN1B1Aug 22, 2024
SEC24D1Jun 17, 2024
SEPTIN91Aug 22, 2024
SHH1Jun 19, 2024
SKOR22Feb 4, 2025
SLC25A381Jun 17, 2024
SLC26A42Aug 22, 2024
SMARCA21Jun 22, 2024
SNIP11Jun 16, 2024
SOX21Jun 17, 2024
SOX2-OT1Jun 17, 2024
SPTB1Aug 22, 2024
SYN31Jul 18, 2024
SYNE11Jun 27, 2024
TACSTD21Jun 29, 2024
TAF41Jun 26, 2024
TEAD11Jun 22, 2024
THSD41Jul 24, 2024
TIMP31Jul 18, 2024
TMPRSS31May 17, 2024
TPM31Aug 22, 2024
TRAPPC92Jul 4, 2024
TRIOBP2Aug 2, 2024
TRIP111Jun 19, 2024
TRPM41Jun 19, 2024
TRPS11Jul 18, 2024
TTC191Jul 6, 2024
TTPA1Jun 24, 2024
UBA11Jul 18, 2024
VDR1Aug 22, 2024
VIM1Jul 18, 2024
VPS13B2Jun 23, 2024
WT11Jul 5, 2024
XPC1Jun 22, 2024
ZDHHC162Mar 6, 2024

Condition

NameSubmissionsLast Updated
3M syndrome 31Aug 22, 2024
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome2Aug 22, 2024
Achondrogenesis, type IA1Jun 19, 2024
Achromatopsia 71Aug 22, 2024
Acrocallosal syndrome1Aug 29, 2024
Acrokeratosis verruciformis of Hopf1Aug 22, 2024
Al Kaissi syndrome1May 15, 2024
Alpha-fetoprotein deficiency1Aug 22, 2024
Alstrom syndrome1May 17, 2024
Alternating hemiplegia of childhood 21Aug 22, 2024
Amyotrophic neuralgia1Aug 22, 2024
Anophthalmia/microphthalmia-esophageal atresia syndrome1Jun 17, 2024
Aortic aneurysm, familial thoracic 121Jul 24, 2024
Arthrogryposis multiplex congenita 3, myogenic type1Jun 27, 2024
Ataxia-telangiectasia syndrome1Aug 22, 2024
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1Jun 28, 2024
Autosomal dominant nonsyndromic hearing loss 11Aug 28, 2024
Autosomal recessive congenital ichthyosis 31Aug 22, 2024
Autosomal recessive congenital ichthyosis 4A1Aug 22, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2T1Jun 22, 2024
Autosomal recessive nonsyndromic hearing loss 22Aug 22, 2024
Autosomal recessive nonsyndromic hearing loss 231May 17, 2024
Autosomal recessive nonsyndromic hearing loss 241Jun 17, 2024
Autosomal recessive nonsyndromic hearing loss 282Aug 2, 2024
Autosomal recessive nonsyndromic hearing loss 31Jul 18, 2024
Autosomal recessive nonsyndromic hearing loss 301Aug 22, 2024
Autosomal recessive nonsyndromic hearing loss 351Jun 20, 2024
Autosomal recessive nonsyndromic hearing loss 42Aug 22, 2024
Autosomal recessive nonsyndromic hearing loss 671May 17, 2024
Autosomal recessive nonsyndromic hearing loss 81May 17, 2024
Bardet-Biedl syndrome 61Jul 6, 2024
Bardet-Biedl syndrome 71Jun 22, 2024
Blau syndrome1Jun 17, 2024
Cataract 19 multiple types1Aug 22, 2024
Cataract 301Jul 18, 2024
Cataract 9 multiple types1Jun 17, 2024
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Aug 22, 2024
Cerebral palsy, spastic quadriplegic, 31Aug 22, 2024
Chronic infantile neurological, cutaneous and articular syndrome1Aug 22, 2024
Cleft lip/palate-ectodermal dysplasia syndrome1Jun 27, 2024
Coffin-Siris syndrome 11Aug 22, 2024
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome1Aug 22, 2024
Cohen syndrome2Jun 23, 2024
Cole-Carpenter syndrome 21Jun 17, 2024
Combined malonic and methylmalonic acidemia1Aug 22, 2024
Congenital bile acid synthesis defect 61Aug 22, 2024
Congenital hyperammonemia, type I1Jun 17, 2024
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1Jul 8, 2024
Congenital muscular dystrophy due to integrin alpha-7 deficiency1Jun 17, 2024
Congenital myopathy 4B, autosomal recessive1Aug 22, 2024
Corneal dystrophy, Fuchs endothelial, 84Aug 22, 2024
Craniometaphyseal dysplasia, autosomal dominant1Aug 22, 2024
Cystic fibrosis1Jun 16, 2024
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11Jun 19, 2024
Deficiency of hydroxymethylglutaryl-CoA lyase1Aug 22, 2024
Developmental and epileptic encephalopathy, 365Aug 22, 2024
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Jul 18, 2024
Dysarthria2Feb 4, 2025
Dystonia 241Aug 22, 2024
Ectopia lentis 2, isolated, autosomal recessive1Aug 22, 2024
Elliptocytosis 31Aug 22, 2024
Epidermolysis bullosa, junctional 5A, intermediate1Jul 24, 2024
Familial isolated deficiency of vitamin E1Jun 24, 2024
Feingold syndrome type 11May 17, 2024
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies1Jul 8, 2024
Focal segmental glomerulosclerosis 82Aug 22, 2024
Frontorhiny1Aug 22, 2024
Gait ataxia2Feb 4, 2025
Gaucher disease type I1Jun 16, 2024
Gelatinous droplike corneal dystrophy1Jun 29, 2024
Glaucoma 1, open angle, F1Jul 5, 2024
Glucocorticoid deficiency with achalasia1Aug 22, 2024
Glutaric aciduria, type 11Aug 22, 2024
Gnathodiaphyseal dysplasia1Aug 22, 2024
Harel-Yoon syndrome1Aug 22, 2024
Hecht syndrome1Jul 5, 2024
Helicoid peripapillary chorioretinal degeneration1Jun 22, 2024
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement1Jun 28, 2024
Hereditary spastic paraplegia 281Aug 22, 2024
Hereditary spastic paraplegia 521Jun 17, 2024
Hereditary spherocytosis type 12Aug 22, 2024
Hermansky-Pudlak syndrome 21May 3, 2025
Hermansky-Pudlak syndrome 61Jun 27, 2024
Holoprosencephaly 31Jun 19, 2024
Hydatidiform mole, recurrent, 11May 23, 2025
Hypercholesterolemia, autosomal dominant, type B1Aug 22, 2024
Hyperekplexia 11Jul 18, 2024
Hyperlysinemia1Aug 22, 2024
Hyperphosphatasia with intellectual disability syndrome 41Aug 24, 2024
Hypogonadotropic hypogonadism 18 with or without anosmia1Jun 25, 2024
Immunodeficiency 961Jun 27, 2024
Infantile-onset X-linked spinal muscular atrophy1Jul 18, 2024
Intellectual developmental disorder 611Jun 17, 2024
Intellectual developmental disorder, autosomal dominant 681Jun 29, 2024
Intellectual developmental disorder, autosomal dominant 731Jun 26, 2024
Intellectual disability2Mar 6, 2024
Intellectual disability, X-linked 631Aug 22, 2024
Intellectual disability, X-linked, syndromic, 351Jun 16, 2024
Intellectual disability, autosomal dominant 431Jun 22, 2024
Intellectual disability, autosomal recessive 132Jul 4, 2024
Joubert syndrome 171Jun 17, 2024
KBG syndrome1Aug 22, 2024
Leber congenital amaurosis 131Aug 22, 2024
Leucine-induced hypoglycemia2Aug 22, 2024
Marfan syndrome2Aug 22, 2024
Martsolf syndrome 21Jun 17, 2024
Metachromatic leukodystrophy1Jun 16, 2024
Microcephaly 20, primary, autosomal recessive1Jun 17, 2024
Microphthalmia, isolated, with coloboma 73Aug 22, 2024
Mild intellectual disability2Feb 4, 2025
Mitchell syndrome1Aug 22, 2024
Mitochondrial complex I deficiency, nuclear type 51Jun 22, 2024
Mitochondrial complex III deficiency nuclear type 21Jul 6, 2024
Mucopolysaccharidosis type 61Aug 22, 2024
Mucopolysaccharidosis, MPS-IV-A2Aug 22, 2024
Muscular dystrophy, limb-girdle, autosomal recessive 231Aug 22, 2024
Myopathy, congenital, with structured cores and z-line abnormalities1Aug 22, 2024
Nephrotic syndrome, type 21Jun 17, 2024
Nephrotic syndrome, type 41Jul 5, 2024
Nephrotic syndrome, type 81Aug 22, 2024
Neurodegeneration, childhood-onset, with cerebellar atrophy1Aug 22, 2024
Neurodevelopmental abnormality1Mar 6, 2024
Neurofibromatosis, type 12Jul 6, 2024
Neuronal ceroid lipofuscinosis 51Jun 22, 2024
Neuronal ceroid lipofuscinosis 71Jul 8, 2024
Neuropathy, hereditary sensory, type 1F1Aug 22, 2024
Nicolaides-Baraitser syndrome1Jun 22, 2024
Niemann-Pick disease, type C21Jun 16, 2024
Noonan syndrome 11Jun 19, 2024
Osteogenesis imperfecta type 111Aug 22, 2024
Otofaciocervical syndrome 11Jul 5, 2024
Palmoplantar keratoderma, punctate type 1A1Aug 22, 2024
Pigmented nodular adrenocortical disease, primary, 21Jun 20, 2024
Platelet-type bleeding disorder 151Aug 22, 2024
Polycystic kidney disease, adult type1Jul 23, 2024
Progressive familial heart block type IB1Jun 19, 2024
Progressive pseudorheumatoid dysplasia1Aug 22, 2024
Pseudohypoaldosteronism, type IB1, autosomal recessive1Aug 24, 2024
Pseudohypoaldosteronism, type IB2, autosomal recessive1Aug 22, 2024
Psychomotor retardation, epilepsy, and craniofacial dysmorphism1Jun 16, 2024
Pyknodysostosis1Jun 19, 2024
Pyruvate kinase deficiency of red cells1Aug 22, 2024
Recessive dystrophic epidermolysis bullosa1Jun 15, 2024
Retinitis pigmentosa 191Jun 17, 2024
Schaaf-Yang syndrome1Jun 22, 2024
Senior-Loken syndrome 51Aug 22, 2024
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Aug 22, 2024
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans1Aug 22, 2024
Sideroblastic anemia 21Jun 17, 2024
Sorsby fundus dystrophy1Jul 18, 2024
Spastic paraplegia-severe developmental delay-epilepsy syndrome1Jun 17, 2024
Spinocerebellar ataxia type 311Jun 28, 2024
Spondylocostal dysostosis 4, autosomal recessive1Jul 24, 2024
Spondyloepimetaphyseal dysplasia with joint laxity, type 31Aug 6, 2024
Symmetrical dyschromatosis of extremities1Aug 22, 2024
Thrombocytopenia 21Aug 22, 2024
Trichorhinophalangeal dysplasia type I1Jul 18, 2024
Vibratory urticaria5Aug 22, 2024
Vitamin D-dependent rickets type II with alopecia1Aug 22, 2024
Warburg micro syndrome 21Aug 22, 2024
White sponge nevus 11Jun 18, 2024
X-linked chondrodysplasia punctata 11Aug 22, 2024
X-linked progressive cerebellar ataxia1Aug 22, 2024
Xeroderma pigmentosum group B1Aug 22, 2024
Xeroderma pigmentosum, group C1Jun 22, 2024