ClinVar Miner

Variants from Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Location: Russian Federation  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
3 127 1 1 0 132

Gene and significance breakdown #

Total genes and gene combinations: 96
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COL7A1 0 6 0 0 6
TSC2 0 6 0 0 6
AR 1 4 0 0 5
ANKRD11 0 3 0 0 3
EFTUD2 0 3 0 0 3
JAG1 0 3 0 0 3
CC2D2A 0 2 0 0 2
CHD7 0 2 0 0 2
CREBBP 0 1 0 1 2
CTSA 0 2 0 0 2
DNAH11 0 2 0 0 2
GLI3 0 2 0 0 2
GUSB 0 2 0 0 2
L1CAM 0 2 0 0 2
MYH7 0 2 0 0 2
NR2F2 0 2 0 0 2
SHANK3 0 2 0 0 2
SLC27A4 0 2 0 0 2
SMPD4 0 2 0 0 2
SPTA1 0 2 0 0 2
UNC45A 0 2 0 0 2
WDPCP 0 2 0 0 2
AAAS 0 1 0 0 1
ABL1 0 1 0 0 1
ARID1B 0 1 0 0 1
ASS1 0 1 0 0 1
ATM 1 0 0 0 1
ATM, C11orf65 1 0 0 0 1
CASK 0 1 0 0 1
CDKL5, RS1 0 1 0 0 1
CDKN1C 0 1 0 0 1
CENPJ 0 1 0 0 1
CHAMP1 0 1 0 0 1
CHD2 0 1 0 0 1
CLCN5 0 1 0 0 1
CLDN1, CLDN16 0 1 0 0 1
COL1A1 0 1 0 0 1
DCAF17 0 1 0 0 1
DDX3X 0 1 0 0 1
DYRK1A 0 1 0 0 1
EYA1 0 1 0 0 1
F8 0 1 0 0 1
FLT4 0 1 0 0 1
FRAS1 0 1 0 0 1
GCK 0 1 0 0 1
GJB6 0 1 0 0 1
GRHL3 0 1 0 0 1
HIRA 0 0 1 0 1
HNF4A 0 1 0 0 1
HNRNPK 0 1 0 0 1
HSD17B3, SLC35D2-HSD17B3 0 1 0 0 1
ITGB4 0 1 0 0 1
KIF11 0 1 0 0 1
KRT5, LOC126861525 0 1 0 0 1
LOC107652445, SHOX 0 1 0 0 1
LOC111721705, ZEB2 0 1 0 0 1
LOC130005549, PDHX 0 1 0 0 1
MED12 0 1 0 0 1
MED13 0 1 0 0 1
MED13L 0 1 0 0 1
MMP21 0 1 0 0 1
MPZ 0 1 0 0 1
MYCN 0 1 0 0 1
MYCN, MYCNOS 0 1 0 0 1
MYRF 0 1 0 0 1
NF1 0 1 0 0 1
NHS 0 1 0 0 1
NOTCH1 0 1 0 0 1
NOTCH2 0 1 0 0 1
NSD1 0 1 0 0 1
OTC 0 1 0 0 1
PKD1 0 1 0 0 1
PKD2 0 1 0 0 1
PKHD1 0 1 0 0 1
POGZ 0 1 0 0 1
POLR3A 0 1 0 0 1
PPP1R12A 0 1 0 0 1
PTCH1 0 1 0 0 1
PUF60 0 1 0 0 1
RAI1 0 1 0 0 1
SCN5A 0 1 0 0 1
SIN3A 0 1 0 0 1
SMAD6 0 1 0 0 1
SMC1A 0 1 0 0 1
SPTB 0 1 0 0 1
STAG3 0 1 0 0 1
TBX20 0 1 0 0 1
TBX6 0 1 0 0 1
TCF12 0 1 0 0 1
TJP2 0 1 0 0 1
TP63 0 1 0 0 1
TSC1 0 1 0 0 1
TTC5 0 1 0 0 1
TYR 0 1 0 0 1
WT1 0 1 0 0 1
ZDHHC9 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 98
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Tuberous sclerosis 2 0 6 0 0 6
Androgen resistance syndrome 1 4 0 0 5
Recessive dystrophic epidermolysis bullosa 0 5 0 0 5
Alagille syndrome due to a JAG1 point mutation 0 3 0 0 3
KBG syndrome 0 3 0 0 3
Mandibulofacial dysostosis-microcephaly syndrome 0 3 0 0 3
Ataxia-telangiectasia syndrome 2 0 0 0 2
CHARGE association 0 2 0 0 2
Combined deficiency of sialidase AND beta galactosidase 0 2 0 0 2
Feingold syndrome type 1 0 2 0 0 2
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 0 2 0 0 2
Heart defect - tongue hamartoma - polysyndactyly syndrome 0 2 0 0 2
Ichthyosis prematurity syndrome 0 2 0 0 2
Joubert syndrome 9 0 2 0 0 2
MASA syndrome; X-linked hydrocephalus syndrome 0 2 0 0 2
Mucopolysaccharidosis type 7 0 2 0 0 2
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 2 0 0 2
Osteootohepatoenteric syndrome 0 2 0 0 2
Phelan-McDermid syndrome 0 2 0 0 2
Primary ciliary dyskinesia 7 0 2 0 0 2
Pyropoikilocytosis, hereditary; Hereditary spherocytosis type 3 0 2 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 1 2
46,xx sex reversal 5 0 1 0 0 1
8q24.3 microdeletion syndrome 0 1 0 0 1
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 1 0 0 1
Aortic valve disease 1 0 1 0 0 1
Aortic valve disease 1; Adams-Oliver syndrome 5 0 1 0 0 1
Aortic valve disease 2 0 1 0 0 1
Atrial septal defect 4 0 1 0 0 1
Au-Kline syndrome 0 1 0 0 1
Basal cell nevus syndrome 1 0 1 0 0 1
Beckwith-Wiedemann syndrome 0 1 0 0 1
Branchiootorenal syndrome 1 0 1 0 0 1
Brugada syndrome 1; Long QT syndrome 3 0 1 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 0 1
Cardiac-urogenital syndrome 0 1 0 0 1
Cholestasis, progressive familial intrahepatic, 4 0 1 0 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 0 1 0 0 1
Citrullinemia type I 0 1 0 0 1
Coffin-Siris syndrome 1 0 1 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 1 0 0 1
Congenital heart defects, multiple types, 4 0 1 0 0 1
Congenital heart defects, multiple types, 7 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 0 1
Dejerine-Sottas disease 0 1 0 0 1
Dent disease type 1 0 1 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 1
Drash syndrome; Frasier syndrome; Meacham syndrome; Nephrotic syndrome, type 4 0 1 0 0 1
Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized 0 1 0 0 1
Fraser syndrome 1 0 1 0 0 1
Generalized dominant dystrophic epidermolysis bullosa 0 1 0 0 1
Genitourinary and/or brain malformation syndrome 0 1 0 0 1
Glucocorticoid deficiency with achalasia 0 1 0 0 1
HIRA-related disorder 0 0 1 0 1
Hereditary factor VIII deficiency disease 0 1 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 1
Heterotaxy, visceral, 7, autosomal 0 1 0 0 1
Hidrotic ectodermal dysplasia syndrome 0 1 0 0 1
Hypertrophic cardiomyopathy 1 0 1 0 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 0 0 1
Intellectual developmental disorder 61 0 1 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
Intellectual disability, autosomal dominant 40 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 1 0 0 1
Leri-Weill dyschondrosteosis; Langer mesomelic dysplasia syndrome 0 1 0 0 1
Limb-mammary syndrome 0 1 0 0 1
Maturity-onset diabetes of the young type 1 0 1 0 0 1
Maturity-onset diabetes of the young type 2 0 1 0 0 1
Microcephaly 6, primary, autosomal recessive 0 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 0 1
Mowat-Wilson syndrome 0 1 0 0 1
Nance-Horan syndrome; Cataract 40 0 1 0 0 1
Neonatal ichthyosis-sclerosing cholangitis syndrome 0 1 0 0 1
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 0 1 0 0 1
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 1 0 0 1
Neurofibromatosis, type 1 0 1 0 0 1
Ornithine carbamoyltransferase deficiency 0 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 0 1 0 0 1
Polycystic kidney disease 2 0 1 0 0 1
Polycystic kidney disease 4 0 1 0 0 1
Polycystic kidney disease, adult type 0 1 0 0 1
Premature ovarian failure 8 0 1 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 0 1
Smith-Magenis syndrome 0 1 0 0 1
Sotos syndrome 0 1 0 0 1
Spondylocostal dysostosis 5 0 1 0 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 1
Syndromic X-linked intellectual disability Raymond type 0 1 0 0 1
TCF12-related craniosynostosis 0 1 0 0 1
Testosterone 17-beta-dehydrogenase deficiency 0 1 0 0 1
Tuberous sclerosis 1 0 1 0 0 1
Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B 0 1 0 0 1
Van der Woude syndrome 2 0 1 0 0 1
Woodhouse-Sakati syndrome 0 1 0 0 1

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