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:

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
24 266 2 1 0 293

Gene and significance breakdown #

Total genes and gene combinations: 203
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
TSC2 3 10 0 0 13
AR 1 7 0 0 8
COL7A1 1 6 0 0 7
NOTCH1 0 5 0 0 5
CREBBP 0 3 0 1 4
L1CAM 0 4 0 0 4
NF1 1 3 0 0 4
ABCA12 0 3 0 0 3
ANKRD11 0 3 0 0 3
CHD7 0 3 0 0 3
COL4A1 0 3 0 0 3
EFTUD2 0 3 0 0 3
JAG1 0 3 0 0 3
KCNQ2 1 2 0 0 3
KMT2D 1 2 0 0 3
NSD1 0 3 0 0 3
PKD1 0 3 0 0 3
TSC1 1 2 0 0 3
ANK1 1 1 0 0 2
CC2D2A 0 2 0 0 2
CHAMP1 0 2 0 0 2
CHRNG 0 2 0 0 2
CTSA 0 2 0 0 2
DNAH11 0 2 0 0 2
FGD1 0 2 0 0 2
FGFR1 0 2 0 0 2
GLI3 0 2 0 0 2
GUSB 0 2 0 0 2
MNX1 0 2 0 0 2
MSH6 0 2 0 0 2
MYH7 0 2 0 0 2
MYRF 0 2 0 0 2
NAGS 0 2 0 0 2
NEB 0 2 0 0 2
NEB, RIF1 0 2 0 0 2
NR2F2 0 2 0 0 2
PEX6 0 2 0 0 2
PKD2 0 2 0 0 2
PKHD1 0 2 0 0 2
SETD5 1 1 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
TJP2 0 2 0 0 2
UNC45A 0 2 0 0 2
WDPCP 0 2 0 0 2
WDR62 0 2 0 0 2
AAAS 0 1 0 0 1
ABL1 0 1 0 0 1
ACAN 0 1 0 0 1
AHDC1 0 1 0 0 1
ANOS1 0 1 0 0 1
ARID1B 0 1 0 0 1
ARX, LOC109610631 0 1 0 0 1
ASS1 0 1 0 0 1
ATAD3A 0 1 0 0 1
ATM 1 0 0 0 1
ATM, C11orf65 1 0 0 0 1
BBS1 0 1 0 0 1
BRAT1 0 1 0 0 1
BRPF1 0 1 0 0 1
BRWD3 0 1 0 0 1
CASK 0 1 0 0 1
CCDST, FLG 0 1 0 0 1
CCNH, RASA1 0 1 0 0 1
CDKL5, RS1 0 1 0 0 1
CDKN1C 0 1 0 0 1
CEP290 0 1 0 0 1
CFTR 0 1 0 0 1
CHD2 0 1 0 0 1
CHD8 0 1 0 0 1
CLCN5 0 1 0 0 1
CLDN1, CLDN16 0 1 0 0 1
COL11A1 0 1 0 0 1
COL12A1 0 1 0 0 1
COL1A1 0 1 0 0 1
CPAP 0 1 0 0 1
CTNNB1, LOC126806658 1 0 0 0 1
CTNND1, TMX2-CTNND1 0 1 0 0 1
CYP24A1 1 0 0 0 1
DCAF17 0 1 0 0 1
DDX3X 0 1 0 0 1
DLG3 0 1 0 0 1
DMD 0 1 0 0 1
DNAH9 0 1 0 0 1
DSP 0 1 0 0 1
DYNC2H1 0 1 0 0 1
DYRK1A 0 1 0 0 1
ELN 0 1 0 0 1
EPHB4 0 1 0 0 1
ERCC2 1 0 0 0 1
ERF 0 1 0 0 1
EXOSC3 1 0 0 0 1
EXT1 0 1 0 0 1
EYA1 0 1 0 0 1
F8 0 1 0 0 1
FBN1 1 0 0 0 1
FLNA 0 1 0 0 1
FLNB 0 1 0 0 1
FLT4 0 1 0 0 1
FOXC1 0 1 0 0 1
FOXC2 0 1 0 0 1
FOXP1 1 0 0 0 1
FRAS1 0 1 0 0 1
GAA 0 1 0 0 1
GATAD1, PEX1 1 0 0 0 1
GATAD2B 0 1 0 0 1
GCK 0 1 0 0 1
GJB6 0 1 0 0 1
GLUL 0 1 0 0 1
GRHL3 0 1 0 0 1
HIRA 0 0 1 0 1
HMGA2 0 1 0 0 1
HNF1B 0 1 0 0 1
HNF4A 0 1 0 0 1
HNRNPK 0 1 0 0 1
HSD17B3, SLC35D2-HSD17B3 0 1 0 0 1
IRF6 0 1 0 0 1
ITGA2B 0 1 0 0 1
ITGB4 0 1 0 0 1
KAT6A 1 0 0 0 1
KAT6B 0 1 0 0 1
KIF11 0 1 0 0 1
KMT2B 0 1 0 0 1
KRT5, LOC126861525 0 1 0 0 1
LAMA2 0 1 0 0 1
LAMC2 0 1 0 0 1
LOC107652445, SHOX 0 1 0 0 1
LOC111721705, ZEB2 0 1 0 0 1
LOC126862935, NLRP5 0 1 0 0 1
LOC130005549, PDHX 0 1 0 0 1
LZTR1 0 0 1 0 1
MED12 0 1 0 0 1
MED13 0 1 0 0 1
MED13L 0 1 0 0 1
MEF2C 1 0 0 0 1
MMP21 0 1 0 0 1
MN1 0 1 0 0 1
MPZ 0 1 0 0 1
MSX2 0 1 0 0 1
MTOR 0 1 0 0 1
MYCN 0 1 0 0 1
MYCN, MYCNOS 0 1 0 0 1
NDUFB11 0 1 0 0 1
NEK9 0 1 0 0 1
NFIA 0 1 0 0 1
NHS 0 1 0 0 1
NOTCH2 0 1 0 0 1
NPHS1 0 1 0 0 1
NR5A1 0 1 0 0 1
OTC 0 1 0 0 1
OTOG 0 1 0 0 1
PC 0 1 0 0 1
PDE6C 0 1 0 0 1
PEX5 0 1 0 0 1
PI4KA 0 1 0 0 1
POGZ 0 1 0 0 1
POLR2F, SOX10 0 1 0 0 1
POLR3A 0 1 0 0 1
POR 0 1 0 0 1
PPP1R12A 0 1 0 0 1
PRR12 1 0 0 0 1
PTCH1 0 1 0 0 1
PTEN 0 1 0 0 1
PUF60 0 1 0 0 1
RAI1 0 1 0 0 1
RYR1 0 1 0 0 1
SATB1 0 1 0 0 1
SCN1A 0 1 0 0 1
SCN5A 0 1 0 0 1
SETD1A 0 1 0 0 1
SF3B4 0 1 0 0 1
SIN3A 0 1 0 0 1
SMAD2 0 1 0 0 1
SMAD6 0 1 0 0 1
SMARCA4 0 1 0 0 1
SMC1A 0 1 0 0 1
SPTB 0 1 0 0 1
SRCAP 0 1 0 0 1
STAG2 0 1 0 0 1
STAG3 0 1 0 0 1
STXBP1 0 1 0 0 1
SYNGAP1 0 1 0 0 1
TAFAZZIN 0 1 0 0 1
TANC2 0 1 0 0 1
TBX19 0 1 0 0 1
TBX20 0 1 0 0 1
TBX6 0 1 0 0 1
TCF12 0 1 0 0 1
TGM1 0 1 0 0 1
TP63 0 1 0 0 1
TRIO 0 1 0 0 1
TRPV6 0 1 0 0 1
TSHR 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
ZEB2 1 0 0 0 1
ZNF142 0 1 0 0 1
ZNF148 0 1 0 0 1
ZNF462 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 215
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Tuberous sclerosis 2 3 9 0 0 12
Androgen resistance syndrome 1 7 0 0 8
Recessive dystrophic epidermolysis bullosa 1 5 0 0 6
Aortic valve disease 1; Adams-Oliver syndrome 5 0 5 0 0 5
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 0 4 0 0 4
Alagille syndrome due to a JAG1 point mutation 0 3 0 0 3
Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 0 3 0 0 3
CHARGE syndrome 0 3 0 0 3
KBG syndrome 0 3 0 0 3
Mandibulofacial dysostosis-microcephaly syndrome 0 3 0 0 3
Polycystic kidney disease, adult type 0 3 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 0 2 0 1 3
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 1 2 0 0 3
Sotos syndrome 0 3 0 0 3
Aarskog syndrome 0 2 0 0 2
Ataxia-telangiectasia syndrome 2 0 0 0 2
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 2 0 0 2
Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome 0 2 0 0 2
Cholestasis, progressive familial intrahepatic, 4 0 2 0 0 2
Combined deficiency of sialidase AND beta galactosidase 0 2 0 0 2
Currarino triad 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
Hereditary spherocytosis type 1 1 1 0 0 2
Hyperammonemia, type III 0 2 0 0 2
Ichthyosis prematurity syndrome 0 2 0 0 2
Intellectual disability, autosomal dominant 40 0 2 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1 0 0 2
Joubert syndrome 9 0 2 0 0 2
Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 1 1 0 0 2
Lynch syndrome 5 0 2 0 0 2
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 0 2 0 0 2
MASA syndrome; X-linked hydrocephalus syndrome 0 2 0 0 2
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 2 0 0 2
Mowat-Wilson syndrome 1 1 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
Peroxisome biogenesis disorder 4A (Zellweger) 0 2 0 0 2
Phelan-McDermid syndrome 0 2 0 0 2
Polycystic kidney disease 2 0 2 0 0 2
Polycystic kidney disease 4 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
Tuberous sclerosis 1 0 2 0 0 2
3-Methylglutaconic aciduria type 2 0 1 0 0 1
46,XY sex reversal 3; Premature ovarian failure 7; Spermatogenic failure 8; 46,XX sex reversal 4 0 1 0 0 1
46,xx sex reversal 5 0 1 0 0 1
8q24.3 microdeletion syndrome 0 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 0 1 0 0 1
Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 0 1 0 0 1
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 0 1 0 0 1
Aortic valve disease 1 0 1 0 0 1
Aortic valve disease 2 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 8; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 1
Asphyxiating thoracic dystrophy 3 0 1 0 0 1
Atrial septal defect 4 0 1 0 0 1
Au-Kline syndrome 0 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 1
Autosomal recessive congenital ichthyosis 1 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 1 0 0 1
Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 0 1 0 0 1
Bardet-Biedl syndrome 1 0 1 0 0 1
Basal cell nevus syndrome 1 0 1 0 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 1 0 0 1
Beckwith-Wiedemann syndrome 0 1 0 0 1
Blepharocheilodontic syndrome 2 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 0 1 0 0 1
Brain malformations with or without urinary tract defects 0 1 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 1
Branchiootorenal syndrome 1 0 1 0 0 1
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 0 1 0 0 1
Brugada syndrome 1; Long QT syndrome 3 0 1 0 0 1
CEBALID syndrome 0 1 0 0 1
Capillary malformation-arteriovenous malformation 1 0 1 0 0 1
Capillary malformation-arteriovenous malformation 2 0 1 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 0 0 1
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 0 1 0 0 1
Cardiac-urogenital syndrome 0 1 0 0 1
Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D 1 0 0 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 0 1 0 0 1
Ciliary dyskinesia, primary, 40 0 1 0 0 1
Citrullinemia type I 0 1 0 0 1
Coffin-Siris syndrome 1 0 1 0 0 1
Cone dystrophy 4 0 1 0 0 1
Congenital brain dysgenesis due to glutamine synthetase deficiency; Developmental and epileptic encephalopathy 116 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 isolated adrenocorticotropic hormone deficiency 0 1 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 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
Cowden syndrome 1 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, 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 0 1 0 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 1
Developmental delay with dysmorphic facies and dental anomalies 0 1 0 0 1
Distichiasis-lymphedema syndrome 0 1 0 0 1
Drash syndrome; Frasier syndrome; Meacham syndrome; Nephrotic syndrome, type 4 0 1 0 0 1
Dystonia 28, childhood-onset 0 1 0 0 1
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization 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
Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe 0 1 0 0 1
Exostoses, multiple, type 1 0 1 0 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 1
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 1 0 0 1
Fraser syndrome 1 0 1 0 0 1
Gastrointestinal defects and immunodeficiency syndrome 2 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
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 0 0 1
Glucocorticoid deficiency with achalasia 0 1 0 0 1
Glycogen storage disease, type II 0 1 0 0 1
HIRA-related disorder 0 0 1 0 1
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 1 0 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
Hypercalcemia, infantile, 1 1 0 0 0 1
Hyperparathyroidism, transient neonatal 0 1 0 0 1
Hypertrophic cardiomyopathy 1 0 1 0 0 1
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 0 1 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1 0 1 0 0 1
Hypothyroidism due to TSH receptor mutations 0 1 0 0 1
Ichthyosis vulgaris 0 1 0 0 1
Intellectual developmental disorder 61 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
Intellectual disability, X-linked 90 0 1 0 0 1
Intellectual disability, X-linked 93 0 1 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 1
Junctional epidermolysis bullosa with pyloric atresia 0 1 0 0 1
Kabuki syndrome 1 0 1 0 0 1
Lambdoidal craniosynostosis; Chitayat syndrome 0 1 0 0 1
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 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
Linear skin defects with multiple congenital anomalies 3 0 1 0 0 1
Loeys-Dietz syndrome 6; Congenital heart defects, multiple types, 8, with or without heterotaxy 0 1 0 0 1
Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 0 1 0 0 1
Lymphangiomyomatosis; Tuberous sclerosis 1 1 0 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 0 0 1
Marfan syndrome; Progeroid and marfanoid aspect-lipodystrophy syndrome 1 0 0 0 1
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 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
Menke-Hennekam syndrome 1 0 1 0 0 1
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 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
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 1 0 0 1
Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked 0 1 0 0 1
NEK9-related lethal skeletal dysplasia 0 1 0 0 1
Nager syndrome 0 1 0 0 1
Nance-Horan syndrome; Cataract 40 0 1 0 0 1
Nanophthalmos 1; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome 0 1 0 0 1
Neonatal ichthyosis-sclerosing cholangitis syndrome 0 1 0 0 1
Neonatal pseudo-hydrocephalic progeroid syndrome; Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 1 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 1 0 0 1
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 0 0 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 0 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 0 1
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Café-au-lait macules with pulmonary stenosis 0 1 0 0 1
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 0 0 1
Neurofibromatosis, type 1 0 1 0 0 1
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome 0 1 0 0 1
Neuroocular syndrome 1 1 0 0 0 1
Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 0 0 1 0 1
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 0 1 0 0 1
Oocyte/zygote/embryo maturation arrest 19 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
PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome type 4C 0 1 0 0 1
Parietal foramina with cleidocranial dysplasia; Parietal foramina 1 0 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 1 0 0 0 1
Peroxisome biogenesis disorder 2B; Peroxisome biogenesis disorder 2A (Zellweger) 0 1 0 0 1
Platelet-type bleeding disorder 16; Glanzmann thrombasthenia 1 0 1 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 1
Premature ovarian failure 8 0 1 0 0 1
Pyruvate dehydrogenase E3-binding protein deficiency 0 1 0 0 1
Renal cysts and diabetes syndrome 0 1 0 0 1
Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 0 1 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 1 0 0 1
Silver-Russell syndrome 5 0 1 0 0 1
Smith-Magenis syndrome 0 1 0 0 1
Spondylocarpotarsal synostosis syndrome 0 1 0 0 1
Spondylocostal dysostosis 5 0 1 0 0 1
Spondyloepiphyseal dysplasia, Kimberley type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 1 0 0 1
Supravalvar aortic stenosis 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
Thrombophilia due to protein C deficiency, autosomal recessive; Pyruvate carboxylase deficiency; Thrombophilia due to protein C deficiency, autosomal dominant 0 1 0 0 1
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 1 0 0 1
Van der Woude syndrome 1 0 1 0 0 1
Van der Woude syndrome 2 0 1 0 0 1
Weiss-Kruszka syndrome 0 1 0 0 1
Woodhouse-Sakati syndrome 0 1 0 0 1

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