ClinVar Miner

Variants from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Location: United States — 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
59 37 650 2 1 749

Gene and significance breakdown #

Total genes and gene combinations: 317
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FBN1 6 9 10 0 0 25
TSC2 5 2 12 0 0 19
VPS13B 0 0 17 0 0 17
POLG 1 1 11 0 0 13
DYNC1H1 0 0 10 0 0 10
FBN2 0 1 9 0 0 10
IFIH1 0 0 10 0 0 10
KMT2D 0 0 10 0 0 10
MEFV 3 0 7 0 0 10
LTBP2 0 0 8 0 0 8
MYLK 0 0 8 0 0 8
ATP13A2 0 0 7 0 0 7
CHD7 0 0 7 0 0 7
EPG5 0 0 7 0 0 7
PTPN11 6 1 0 0 0 7
ADAMTSL4 0 0 6 0 0 6
COL5A1 0 0 6 0 0 6
COL5A2 0 0 6 0 0 6
NF1 3 0 3 0 0 6
PTPRC 0 0 6 0 0 6
TNXB 0 0 6 0 0 6
ADAMTS17 0 0 5 0 0 5
CHRNA4 0 0 5 0 0 5
CNTNAP2 0 0 5 0 0 5
COL3A1 0 0 5 0 0 5
FLNA 0 0 5 0 0 5
LPIN2 0 0 5 0 0 5
LYST 0 0 5 0 0 5
MYH11, NDE1 0 0 5 0 0 5
NLRP3 0 0 5 0 0 5
NOTCH1 0 0 5 0 0 5
PGM3 0 0 5 0 0 5
RTEL1, RTEL1-TNFRSF6B 0 0 5 0 0 5
SCN2A 0 1 4 0 0 5
TCN2 1 0 4 0 0 5
TTC37 0 0 5 0 0 5
BLM 0 0 4 0 0 4
CHD2 0 1 3 0 0 4
CIITA 0 0 4 0 0 4
FERMT3 0 0 4 0 0 4
KCNH2 0 0 4 0 0 4
LRBA 0 1 3 0 0 4
NRXN1 0 0 4 0 0 4
PLCG2 0 0 4 0 0 4
SCARB2 0 1 3 0 0 4
SCN1A 2 0 2 0 0 4
SELE 0 0 4 0 0 4
SH3BP2 0 0 4 0 0 4
SKI 0 0 4 0 0 4
SLC2A1 0 0 4 0 0 4
SLX4 0 0 4 0 0 4
SPINK5 0 0 4 0 0 4
TGFBR2 1 0 3 0 0 4
ADAMTS10 0 0 3 0 0 3
ADAMTS2 0 0 3 0 0 3
ADSL 0 0 3 0 0 3
AP3B1 0 0 3 0 0 3
ATM 0 0 3 0 0 3
BCR 0 0 3 0 0 3
CARD9 0 0 3 0 0 3
COL5A1, LOC101448202 0 1 2 0 0 3
CR2 0 0 3 0 0 3
DOCK8 0 0 3 0 0 3
FANCM 0 0 3 0 0 3
GAMT 0 0 3 0 0 3
GRIN2B 0 0 3 0 0 3
HNRNPU 0 0 3 0 0 3
KANSL1 0 0 3 0 0 3
KCNQ2 1 1 1 0 0 3
KCNT1 0 0 3 0 0 3
LIG4 1 0 2 0 0 3
MOGS 0 0 3 0 0 3
NOD2 0 0 3 0 0 3
PCDH19 1 1 1 0 0 3
PIGO 0 0 3 0 0 3
POLE 0 0 3 0 0 3
PRICKLE2 0 0 3 0 0 3
PRKDC 0 0 3 0 0 3
RAG1 1 1 1 0 0 3
RELA 0 0 3 0 0 3
SCN1A, SCN9A 0 0 3 0 0 3
SELP 0 0 3 0 0 3
SPTAN1 0 0 3 0 0 3
TBX21 0 0 3 0 0 3
TCF3 0 0 3 0 0 3
TERT 0 0 3 0 0 3
TMC8 0 0 3 0 0 3
UNC13D 0 0 3 0 0 3
ZNF469 0 0 1 2 0 3
ADA 0 0 2 0 0 2
ATM, C11orf65 2 0 0 0 0 2
ATP1A3 0 0 2 0 0 2
C1S 0 0 2 0 0 2
C8B 0 0 2 0 0 2
C8G 0 0 2 0 0 2
CARD11 0 0 2 0 0 2
CBS 0 1 1 0 0 2
CCR2 0 0 2 0 0 2
CD209 0 0 2 0 0 2
CD22 0 0 2 0 0 2
CD8A 0 0 2 0 0 2
CFH 0 0 2 0 0 2
CFHR4 0 0 2 0 0 2
CHRNA2 0 0 2 0 0 2
CLN8 0 0 2 0 0 2
CSF3R 0 0 2 0 0 2
CYBA 0 0 2 0 0 2
DCLRE1C 0 0 2 0 0 2
DUPD1, KAT6B 0 0 2 0 0 2
FANCA 1 1 0 0 0 2
FANCD2, LOC107303338 0 0 2 0 0 2
FANCI 0 0 2 0 0 2
FANCL 0 0 2 0 0 2
FAS 0 0 2 0 0 2
FASLG 0 0 2 0 0 2
FCGR3A 0 0 2 0 0 2
FOXN1 0 0 2 0 0 2
G6PC3 0 0 2 0 0 2
GABRG2 1 0 1 0 0 2
GJB2 2 0 0 0 0 2
GRIN1 0 0 2 0 0 2
IFNGR1 0 0 2 0 0 2
IL4R 0 0 2 0 0 2
ITGB2 0 1 1 0 0 2
KAT6B 0 0 2 0 0 2
KRAS 1 0 1 0 0 2
MAGI2 0 0 2 0 0 2
MASP1 0 0 2 0 0 2
MCM4 0 0 2 0 0 2
MECP2 1 0 1 0 0 2
MFSD8 0 0 2 0 0 2
NEXMIF 0 0 2 0 0 2
NLRP12 0 0 2 0 0 2
PIGV 0 0 2 0 0 2
PNPO 0 0 2 0 0 2
PRRT2 1 1 0 0 0 2
QARS1 0 0 2 0 0 2
ROGDI 0 0 2 0 0 2
SBDS 2 0 0 0 0 2
SLC37A4 0 0 2 0 0 2
SMAD3 0 0 2 0 0 2
SMARCAL1 0 0 2 0 0 2
SOS1 2 0 0 0 0 2
STAT1 0 0 2 0 0 2
STAT5B 0 0 2 0 0 2
TAP1 0 0 2 0 0 2
TAP2 0 1 0 0 1 2
TBXAS1 0 2 0 0 0 2
TGFB3 0 1 1 0 0 2
TMC6 0 0 2 0 0 2
TSC1 1 1 0 0 0 2
TTC7A 0 0 2 0 0 2
VAV1 0 0 2 0 0 2
WRAP53 0 0 2 0 0 2
ZEB2 0 0 2 0 0 2
ACP5 0 0 1 0 0 1
ACVRL1 0 0 1 0 0 1
ADAR 0 0 1 0 0 1
ALDH7A1 0 0 1 0 0 1
ALG13 0 0 1 0 0 1
ATP6AP2 0 0 1 0 0 1
B4GALT7 0 0 1 0 0 1
BCL11A 0 0 1 0 0 1
BRAF 1 0 0 0 0 1
BRCA2 0 0 1 0 0 1
BTK 0 1 0 0 0 1
C1QB 0 0 1 0 0 1
C1QC 0 0 1 0 0 1
C1R 0 0 1 0 0 1
C2 0 0 1 0 0 1
C3 0 0 1 0 0 1
C5 0 0 1 0 0 1
C6 1 0 0 0 0 1
C8A 0 0 1 0 0 1
CACNA2D2 0 0 1 0 0 1
CACNA2D2, CYB561D2 0 0 1 0 0 1
CASP10 0 0 1 0 0 1
CASP8 0 0 1 0 0 1
CCBE1 0 0 1 0 0 1
CD19 0 0 1 0 0 1
CD207 0 0 1 0 0 1
CD247 0 0 1 0 0 1
CD3E 0 0 1 0 0 1
CD4 0 0 1 0 0 1
CD40 0 0 1 0 0 1
CD44 0 0 1 0 0 1
CD79B, GH-LCR 0 0 1 0 0 1
CD81 0 0 1 0 0 1
CDCA7L, DNAH11 0 1 0 0 0 1
CDKL5 0 1 0 0 0 1
CEBPA 0 0 1 0 0 1
CFD 0 0 1 0 0 1
CFI 0 0 1 0 0 1
CFP 0 0 1 0 0 1
CLCN4 0 0 1 0 0 1
CLCN7 0 0 1 0 0 1
CLEC7A 0 0 1 0 0 1
CLN6 0 0 1 0 0 1
CORO1A 0 0 1 0 0 1
CRKL 0 0 1 0 0 1
CSF2RA 0 0 1 0 0 1
CTLA4 0 0 1 0 0 1
CTSD 0 0 1 0 0 1
CXCL12 0 0 1 0 0 1
CXCR1 0 0 1 0 0 1
CXCR4 1 0 0 0 0 1
CYBB 0 0 1 0 0 1
DEPDC5 1 0 0 0 0 1
DNAH11 1 0 0 0 0 1
DNM1 0 0 1 0 0 1
DNMT3B 0 0 1 0 0 1
DYRK1A 0 0 1 0 0 1
EEF1A2 0 0 1 0 0 1
EFEMP2, MUS81 0 0 1 0 0 1
EFHC1 0 0 1 0 0 1
EPM2A 0 0 1 0 0 1
EPM2A, FBXO30-DT 0 0 1 0 0 1
ERCC4 0 0 1 0 0 1
FOXP3 0 0 1 0 0 1
G6PD, IKBKG 0 0 1 0 0 1
GABRA1 0 0 1 0 0 1
GATM 0 0 1 0 0 1
HCN1 0 0 1 0 0 1
HEXA 1 0 0 0 0 1
ICAM1 0 0 1 0 0 1
IL10, IL19 0 0 1 0 0 1
IL12B 0 0 1 0 0 1
IL17RA 0 0 1 0 0 1
IL1RN 0 0 1 0 0 1
IL21R 0 0 1 0 0 1
IL2RA 0 0 1 0 0 1
IL7R 0 0 1 0 0 1
INO80 0 0 1 0 0 1
ISG15 0 0 1 0 0 1
ITK 0 0 1 0 0 1
JAK3 0 0 1 0 0 1
KCNB1 0 0 1 0 0 1
KCNJ10 0 0 1 0 0 1
KCNMA1 0 0 1 0 0 1
KCNQ3 0 0 1 0 0 1
LIPA 1 0 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 0 1
LOC106029312, NCF1 0 0 1 0 0 1
LOC106780803, TNXB 0 0 1 0 0 1
LOC107648851, TAP2 0 0 1 0 0 1
LOC114803470, SCN8A 0 0 1 0 0 1
LOC114803478, TRAF3IP2 0 0 1 0 0 1
MAP2K1 1 0 0 0 0 1
MAP3K14 0 0 1 0 0 1
MASP2, TARDBP 0 0 1 0 0 1
MBD5 0 0 1 0 0 1
MCFD2, TTC7A 0 0 1 0 0 1
MRE11 0 0 1 0 0 1
MS4A1 0 0 1 0 0 1
MYH11 0 0 1 0 0 1
NBN 0 0 1 0 0 1
NFKB2 0 0 1 0 0 1
NHEJ1 0 0 1 0 0 1
NKIRAS1, RPL15 0 0 1 0 0 1
NPIPB2, TNFRSF17 0 0 1 0 0 1
NPR2 0 0 1 0 0 1
NRAS 1 0 0 0 0 1
PALB2 0 0 1 0 0 1
PHKA2 0 1 0 0 0 1
PIGA 0 0 1 0 0 1
PIK3R1 0 0 1 0 0 1
PLCB1 0 1 0 0 0 1
PLOD1 0 0 1 0 0 1
PNKP 0 0 1 0 0 1
PRICKLE1 0 0 1 0 0 1
PRKCD 0 0 1 0 0 1
PSTPIP1 0 0 1 0 0 1
PTPN6 0 0 1 0 0 1
RAB27A 0 0 1 0 0 1
RAF1 1 0 0 0 0 1
RAG2 0 0 1 0 0 1
RBCK1 0 0 1 0 0 1
RFXANK 0 0 1 0 0 1
RIT1 1 0 0 0 0 1
RPSA 0 0 1 0 0 1
SDC1 0 0 1 0 0 1
SERPING1 0 0 1 0 0 1
SLC25A12 0 0 1 0 0 1
SLC2A10 0 0 1 0 0 1
SLC35C1 0 0 1 0 0 1
SLC6A1 0 0 1 0 0 1
SMAD4 1 0 0 0 0 1
SNHG14, UBE3A 0 0 1 0 0 1
SP110 0 0 1 0 0 1
ST3GAL3 0 0 1 0 0 1
ST3GAL5 0 0 1 0 0 1
STAT2 0 0 1 0 0 1
STAT3 0 0 1 0 0 1
STIM1 0 0 1 0 0 1
STXBP2 0 0 1 0 0 1
TAPBP 0 0 1 0 0 1
TBC1D24 0 0 1 0 0 1
TBL1XR1 0 0 1 0 0 1
TBX1 0 0 1 0 0 1
TCF4 0 1 0 0 0 1
THBD 0 0 1 0 0 1
TICAM1 0 0 1 0 0 1
TMC6, TMC8 0 0 1 0 0 1
TNFRSF13B 0 0 1 0 0 1
TNFRSF1A 0 0 1 0 0 1
TNFSF12-TNFSF13, TNFSF13 0 0 1 0 0 1
TPP1 0 0 1 0 0 1
TRNT1 0 0 1 0 0 1
TYK2 0 0 1 0 0 1
UNC119 0 0 1 0 0 1
UNC93B1 0 0 1 0 0 1
USB1 0 0 1 0 0 1
VPS45 0 0 1 0 0 1
WAS 1 0 0 0 0 1
WDR45 0 0 1 0 0 1
WWOX 0 0 1 0 0 1
ZAP70 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 285
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 0 50 0 0 50
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 3 8 8 0 0 19
Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 5 2 12 0 0 19
Cohen syndrome 0 0 17 0 0 17
Ehlers-Danlos syndrome, classic type 0 1 14 0 0 15
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 1 1 11 0 0 13
Familial Mediterranean fever; Familial mediterranean fever, autosomal dominant 3 0 7 0 0 10
Kabuki syndrome 1 0 0 10 0 0 10
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 0 10 0 0 10
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 0 0 10 0 0 10
Aortic aneurysm, familial thoracic 7 0 0 8 0 0 8
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 8 0 0 8
CHARGE association; Kallmann syndrome 5 0 0 7 0 0 7
Ehlers-Danlos-like syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 0 0 7 0 0 7
Parkinson disease 9; Spastic paraplegia 78, autosomal recessive 0 0 7 0 0 7
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 0 7 0 0 7
Vici syndrome 0 0 7 0 0 7
Aortic aneurysm, familial thoracic 4 0 0 6 0 0 6
Bare lymphocyte syndrome type 1 0 1 4 0 1 6
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 0 0 6 0 0 6
Ectopia lentis et pupillae; Ectopia lentis, isolated autosomal recessive 0 0 6 0 0 6
Marfan syndrome 3 1 2 0 0 6
Weill-Marchesani syndrome 3 0 0 6 0 0 6
Aortic valve disorder; Adams-Oliver syndrome 5 0 0 5 0 0 5
Autism 15; Pitt-Hopkins-like syndrome 1 0 0 5 0 0 5
Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 0 1 4 0 0 5
Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; 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; Frontometaphyseal dysplasia 1 0 0 5 0 0 5
Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 0 0 5 0 0 5
Chédiak-Higashi syndrome 0 0 5 0 0 5
Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 0 0 5 0 0 5
Ehlers-Danlos syndrome, type 4 0 0 5 0 0 5
Epilepsy, nocturnal frontal lobe, type 1 0 0 5 0 0 5
Familial cancer of breast; Ataxia-telangiectasia syndrome 2 0 3 0 0 5
Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2 0 3 0 0 5
Immunodeficiency 23 0 0 5 0 0 5
Majeed syndrome 0 0 5 0 0 5
Transcobalamin II deficiency 1 0 4 0 0 5
Trichohepatoenteric syndrome 1 0 0 5 0 0 5
Weill-Marchesani syndrome 4 0 0 5 0 0 5
Autoimmune lymphoproliferative syndrome 0 0 4 0 0 4
Bare lymphocyte syndrome 2 0 0 4 0 0 4
Bloom syndrome 0 0 4 0 0 4
Common variable immunodeficiency 8, with autoimmunity 0 1 3 0 0 4
Epilepsy, progressive myoclonic 4, with or without renal failure 0 1 3 0 0 4
Epileptic encephalopathy, childhood-onset 0 1 3 0 0 4
Familial cold autoinflammatory syndrome 3; Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated 0 0 4 0 0 4
Fanconi anemia, complementation group P 0 0 4 0 0 4
Fibrous dysplasia of jaw 0 0 4 0 0 4
Genitopatellar syndrome; Young Simpson syndrome 0 0 4 0 0 4
Netherton syndrome 0 0 4 0 0 4
Pitt-Hopkins-like syndrome 2; Schizophrenia 17 0 0 4 0 0 4
Short QT syndrome 1; Long QT syndrome 2 0 0 4 0 0 4
Shprintzen-Goldberg syndrome 0 0 4 0 0 4
Stomatin-deficient cryohydrocytosis with neurologic defects; Dystonia 9; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 4 0 0 4
Adenylosuccinate lyase deficiency 0 0 3 0 0 3
Agammaglobulinemia 8, autosomal dominant 0 0 3 0 0 3
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity; Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 1 1 1 0 0 3
Asthma, nasal polyps, and aspirin intolerance 0 0 3 0 0 3
Benign familial neonatal seizures 1; Early infantile epileptic encephalopathy 7 1 1 1 0 0 3
Brittle cornea syndrome 1 0 0 1 2 0 3
Candidiasis, familial, 2 0 0 3 0 0 3
Congenital disorder of glycosylation type 2B 0 0 3 0 0 3
Deficiency of guanidinoacetate methyltransferase 0 0 3 0 0 3
Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 0 0 3 0 0 3
Early infantile epileptic encephalopathy 5 0 0 3 0 0 3
Early infantile epileptic encephalopathy 9 1 1 1 0 0 3
Ehlers-Danlos syndrome dermatosparaxis type 0 0 3 0 0 3
Epileptic encephalopathy, early infantile, 54 0 0 3 0 0 3
Facial dysmorphism, immunodeficiency, livedo, and short stature 0 0 3 0 0 3
Hemophagocytic lymphohistiocytosis, familial, 3 0 0 3 0 0 3
Hermansky Pudlak syndrome 2 0 0 3 0 0 3
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 3 0 0 3
Hyperphosphatasia with mental retardation syndrome 2 0 0 3 0 0 3
Immunodeficiency 26 with or without neurologic abnormalities 0 0 3 0 0 3
Koolen-de Vries syndrome 0 0 3 0 0 3
Leukocyte adhesion deficiency, type III 0 0 3 0 0 3
Lig4 syndrome 1 0 2 0 0 3
Loeys-Dietz syndrome 2; Hereditary nonpolyposis colorectal cancer type 6 0 0 3 0 0 3
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 0 3 0 0 3
Microspherophakia; Glaucoma 3, primary congenital, d; Weill-Marchesani syndrome 3 0 0 3 0 0 3
Multiple gastrointestinal atresias 0 0 3 0 0 3
Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 2 0 0 3
Noonan syndrome 1; LEOPARD syndrome 1 3 0 0 0 0 3
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 0 0 3 0 0 3
Weill-Marchesani syndrome 1 0 0 3 0 0 3
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 0 0 2 0 0 2
Basal laminar drusen; Factor H deficiency; Atypical hemolytic-uremic syndrome 1; Age-related macular degeneration 4 0 0 2 0 0 2
Blau syndrome; Inflammatory bowel disease 1; Yao syndrome 0 0 2 0 0 2
C1q deficiency 0 0 2 0 0 2
Cd8 deficiency, familial 0 0 2 0 0 2
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; Dystonia 12; Alternating hemiplegia of childhood 2 0 0 2 0 0 2
Ceroid lipofuscinosis neuronal 7; Macular dystrophy with central cone involvement 0 0 2 0 0 2
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant; Ceroid lipofuscinosis neuronal 8 0 0 2 0 0 2
Ciliary dyskinesia, primary, 7 1 1 0 0 0 2
Complement component 8 deficiency type 2 0 0 2 0 0 2
Complement component c1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2 0 0 2 0 0 2
Congenital contractural arachnodactyly 0 1 1 0 0 2
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a 2 0 0 0 0 2
Disseminated atypical mycobacterial infection; Immunodeficiency 27b 0 0 2 0 0 2
Dyskeratosis congenita, autosomal recessive, 3 0 0 2 0 0 2
Epilepsy, childhood absence 2; Familial febrile seizures 8 1 0 1 0 0 2
Epilepsy, nocturnal frontal lobe, type 4 0 0 2 0 0 2
Familial cold autoinflammatory syndrome 2 0 0 2 0 0 2
Fanconi anemia, complementation group A 1 1 0 0 0 2
Fanconi anemia, complementation group D2 0 0 2 0 0 2
Fanconi anemia, complementation group I 0 0 2 0 0 2
Fanconi anemia, complementation group L 0 0 2 0 0 2
Ghosal syndrome; Thromboxane synthetase deficiency 0 2 0 0 0 2
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 0 2 0 0 2
Growth hormone insensitivity with immunodeficiency 0 0 2 0 0 2
Homocystinuria due to CBS deficiency 0 1 1 0 0 2
Hyperphosphatasia with mental retardation syndrome 1 0 0 2 0 0 2
Ige responsiveness, atopic; Human immunodeficiency virus type 1, susceptibility to 0 0 2 0 0 2
Immunodeficiency 11; B-cell expansion with NFKB and T-cell anergy; IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 0 0 2 0 0 2
Immunodeficiency 20 0 0 2 0 0 2
Kohlschutter's syndrome 0 0 2 0 0 2
Lafora disease 0 0 2 0 0 2
Leukocyte adhesion deficiency type 1 0 1 1 0 0 2
Loeys-Dietz syndrome 3 0 0 2 0 0 2
Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II 1 1 0 0 0 2
Mental retardation, X-linked 98 0 0 2 0 0 2
Michels syndrome 0 0 2 0 0 2
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 0 0 2 0 0 2
Mowat-Wilson syndrome 0 0 2 0 0 2
Mycobacterial and viral infections, susceptibility to, autosomal recessive; Immunodeficiency 31C; Immunodeficiency 31a 0 0 2 0 0 2
Natural killer cell and glucocorticoid deficiency with DNA repair defect 0 0 2 0 0 2
Nephrotic syndrome type 15 0 0 2 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 0 2 0 0 2
Neurofibromatosis, type 1 1 0 1 0 0 2
Neutropenia, severe congenital, 7, autosomal recessive 0 0 2 0 0 2
Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2 0 0 0 0 2
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 1 1 0 0 0 2
Phosphate transport defect; Glucose-6-phosphate transport defect 0 0 2 0 0 2
Pyridoxal 5'-phosphate-dependent epilepsy 0 0 2 0 0 2
Schimke immunoosseous dysplasia 0 0 2 0 0 2
Seizures, benign familial infantile, 2; Dystonia 10; Infantile convulsions and paroxysmal choreoathetosis, familial 1 1 0 0 0 2
Severe combined immunodeficiency due to ADA deficiency 0 0 2 0 0 2
Severe combined immunodeficiency with sensitivity to ionizing radiation; Histiocytic medullary reticulosis 0 0 2 0 0 2
Severe congenital neutropenia 4, autosomal recessive 0 0 2 0 0 2
Severe neonatal-onset encephalopathy with microcephaly; MECP2 duplication syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome; Autism, susceptibility to, X-linked 3 1 0 1 0 0 2
Shwachman-Diamond syndrome 1; Aplastic anemia 2 0 0 0 0 2
Systemic lupus erythematosus 9; Common variable immunodeficiency 7 0 0 2 0 0 2
T-cell immunodeficiency, congenital alopecia and nail dystrophy 0 0 2 0 0 2
Acromesomelic dysplasia Maroteaux type; Epiphyseal chondrodysplasia, miura type; Short stature with nonspecific skeletal abnormalities 0 0 1 0 0 1
Acute myeloid leukemia 0 0 1 0 0 1
Afibrinogenemia; Atypical hemolytic-uremic syndrome 3; Age-related macular degeneration 13 0 0 1 0 0 1
Agammaglobulinemia 6, autosomal recessive 0 0 1 0 0 1
Age-related macular degeneration 9; Atypical hemolytic-uremic syndrome 5; Complement component 3 deficiency, autosomal recessive 0 0 1 0 0 1
Angelman syndrome 0 0 1 0 0 1
Arginine:glycine amidinotransferase deficiency 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial 1; Loeys-Dietz syndrome 5 0 0 1 0 0 1
Arterial tortuosity syndrome 0 0 1 0 0 1
Asplenia, isolated congenital 0 0 1 0 0 1
Ataxia-telangiectasia-like disorder 1 0 0 1 0 0 1
Atypical hemolytic-uremic syndrome 6; Thrombophilia due to thrombomodulin defect 0 0 1 0 0 1
Atypical mycobacteriosis, familial, X-linked 2; Chronic granulomatous disease, X-linked 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome, type 2A; Neoplasm of stomach 0 0 1 0 0 1
Autoimmune lymphoproliferative syndrome, type III 0 0 1 0 0 1
Autosomal recessive cutis laxa type 1B 0 0 1 0 0 1
Bare lymphocyte syndrome 2; Rheumatoid arthritis 0 0 1 0 0 1
Benign familial neonatal seizures 2 0 0 1 0 0 1
Birbeck granule deficiency 0 0 1 0 0 1
Blau syndrome 0 0 1 0 0 1
Candidiasis, familial, 8 0 0 1 0 0 1
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7 1 0 0 0 0 1
Cardiofaciocutaneous syndrome 3 1 0 0 0 0 1
Caspase-8 deficiency 0 0 1 0 0 1
Celiac disease 3; Diabetes mellitus, insulin-dependent, 12; Hashimoto thyroiditis; Systemic lupus erythematosus; Autoimmune lymphoproliferatiVe syndrome, type V 0 0 1 0 0 1
Ceroid lipofuscinosis neuronal 10 0 0 1 0 0 1
Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 0 0 1 0 0 1
Ceroid lipofuscinosis neuronal 6; Adult neuronal ceroid lipofuscinosis 0 0 1 0 0 1
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 0 0 1 0 0 1
Cognitive impairment with or without cerebellar ataxia; Early infantile epileptic encephalopathy 13; Seizures, benign familial infantile, 5 0 0 1 0 0 1
Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 0 0 1 0 0 1
Common variable immunodeficiency 10 0 0 1 0 0 1
Common variable immunodeficiency 2; Immunoglobulin A deficiency 2 0 0 1 0 0 1
Common variable immunodeficiency 3 0 0 1 0 0 1
Common variable immunodeficiency 5 0 0 1 0 0 1
Common variable immunodeficiency 6 0 0 1 0 0 1
Common variable immunodeficiency 7 0 0 1 0 0 1
Complement component 2 deficiency; Age-related macular degeneration 14 0 0 1 0 0 1
Complement component 6 deficiency 1 0 0 0 0 1
Complement component 8 deficiency type 1 0 0 1 0 0 1
Complement factor d deficiency 0 0 1 0 0 1
Congenital disorder of glycosylation type 2C 0 0 1 0 0 1
Conotruncal heart malformations; Shprintzen syndrome; DiGeorge sequence; Tetralogy of Fallot 0 0 1 0 0 1
DOORS syndrome; Myoclonic epilepsy, familial infantile; Deafness, autosomal recessive 86; Early infantile epileptic encephalopathy 16; Deafness, autosomal dominant 65 0 0 1 0 0 1
Diabetes mellitus, insulin-dependent, 10; Interleukin 2 receptor, alpha, deficiency of 0 0 1 0 0 1
Diamond-Blackfan anemia 12 0 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 0 0 1 0 0 1
Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4 0 0 1 0 0 1
Early infantile epileptic encephalopathy 12 0 1 0 0 0 1
Early infantile epileptic encephalopathy 2 0 1 0 0 0 1
Ehlers-Danlos syndrome progeroid type 0 0 1 0 0 1
Ehlers-Danlos syndrome, hydroxylysine-deficient 0 0 1 0 0 1
Ehlers-Danlos syndrome, type 8 0 0 1 0 0 1
Enlarged vestibular aqueduct; SeSAME syndrome 0 0 1 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 0 1
Epilepsy, juvenile absence, susceptibility to, 1; Juvenile myoclonic epilepsy 0 0 1 0 0 1
Epilepsy, juvenile myoclonic 5; Epileptic encephalopathy, early infantile, 19 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 24 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 26 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 31 0 0 1 0 0 1
Epileptic encephalopathy, early infantile, 36 0 0 1 0 0 1
Familial atypical mycobacteriosis, type 1, X-linked; Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; Ectodermal dysplasia and immunodeficiency 1; Immunodeficiency without anhidrotic ectodermal dysplasia; Invasive pneumococcal disease, recurrent isolated, 2; Incontinentia pigmenti syndrome 0 0 1 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 0 0 1 0 0 1
Familial cancer of breast; Pancreatic cancer 3 0 0 1 0 0 1
Familial chronic mucocutaneous candidiasis 0 0 1 0 0 1
Generalized epilepsy and paroxysmal dyskinesia; CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 0 0 1 0 0 1
Gingival fibromatosis 1; Noonan syndrome 4 1 0 0 0 0 1
Glycogen storage disease type IXa1 0 1 0 0 0 1
Griscelli syndrome type 2 0 0 1 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 5 0 0 1 0 0 1
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 1 0 0 1
Hepatic venoocclusive disease with immunodeficiency 0 0 1 0 0 1
Hereditary angioedema type 1; Complement component 4, partial deficiency of 0 0 1 0 0 1
Hereditary hemorrhagic telangiectasia type 2 0 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; Autoimmune disease, multisystem, infantile-onset, 1 0 0 1 0 0 1
Hypomyelination, global cerebral 0 0 1 0 0 1
Ige responsiveness, atopic; IL21R immunodeficiency 0 0 1 0 0 1
Immunodeficiency 13 0 0 1 0 0 1
Immunodeficiency 18 0 0 1 0 0 1
Immunodeficiency 29 0 0 1 0 0 1
Immunodeficiency 38 with basal ganglia calcification 0 0 1 0 0 1
Immunodeficiency 44 0 0 1 0 0 1
Immunodeficiency 51 0 0 1 0 0 1
Immunodeficiency 8 0 0 1 0 0 1
Immunodeficiency due to defect in cd3-zeta 0 0 1 0 0 1
Immunodeficiency with hyper IgM type 3 0 0 1 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 0 0 1 0 0 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 0 0 1 0 0 1
Intellectual developmental disorder with persistence of fetal hemoglobin 0 0 1 0 0 1
LEOPARD syndrome 2; Noonan syndrome 5 1 0 0 0 0 1
Leiner disease 0 0 1 0 0 1
Loeys-Dietz syndrome 2 1 0 0 0 0 1
Loeys-Dietz syndrome 5 0 1 0 0 0 1
Lymphoproliferative syndrome 1 0 0 1 0 0 1
Lysosomal acid lipase deficiency 1 0 0 0 0 1
MASP2 deficiency 0 0 1 0 0 1
Malignant tumor of esophagus; Spinocerebellar ataxia, autosomal recessive 12; Epileptic encephalopathy, early infantile, 28 0 0 1 0 0 1
Mental retardation 49, X-linked 0 0 1 0 0 1
Mental retardation, X-linked, syndromic, Hedera type; Parkinsonism with spasticity, X-linked 0 0 1 0 0 1
Mental retardation, autosomal dominant 1 0 0 1 0 0 1
Mental retardation, autosomal dominant 38; Epileptic encephalopathy, early infantile, 33 0 0 1 0 0 1
Mental retardation, autosomal dominant 7 0 0 1 0 0 1
Mental retardation, autosomal recessive 12; Early infantile epileptic encephalopathy 15 0 0 1 0 0 1
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 0 0 1 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 0 1 0 0 1
Myhre syndrome; Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 1 0 0 0 0 1
Myoclonic-atonic epilepsy 0 0 1 0 0 1
Myopathy, tubular aggregate, 1; Stormorken syndrome; Immune dysfunction with T-cell inactivation due to calcium entry defect 2 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 0 1 0 0 1
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 0 0 0 1
Noonan syndrome 3; Cardiofaciocutaneous syndrome 2 1 0 0 0 0 1
Noonan syndrome 3; Epidermal nevus syndrome; RAS-associated autoimmune leukoproliferative disorder; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2 0 0 1 0 0 1
Noonan syndrome 4 1 0 0 0 0 1
Noonan syndrome 6 1 0 0 0 0 1
Noonan syndrome 8 1 0 0 0 0 1
Okt4 epitope deficiency 0 0 1 0 0 1
Osteomyelitis, sterile multifocal, with periostitis and pustulosis 0 0 1 0 0 1
Osteopetrosis autosomal dominant type 2; Osteopetrosis autosomal recessive 4 0 0 1 0 0 1
Pierpont syndrome; Mental retardation, autosomal dominant 41 0 0 1 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 0 1 0 0 0 1
Poikiloderma with neutropenia 0 0 1 0 0 1
Polyglucosan body myopathy 1 with or without immunodeficiency 0 0 1 0 0 1
Progressive myoclonus epilepsy with ataxia 0 0 1 0 0 1
Pyogenic arthritis, pyoderma gangrenosum and acne 0 0 1 0 0 1
Pyridoxine-dependent epilepsy 0 0 1 0 0 1
SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 0 0 1 0 0 1
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 0 0 1 0 0 1
Severe combined immunodeficiency, atypical; Autoimmune disease, multisystem, infantile-onset, 2 0 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 0 0 1 0 0 1
Severe congenital neutropenia 5, autosomal recessive 0 0 1 0 0 1
Severe congenital neutropenia X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome 1 0 0 0 0 1
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa and erythrocytic microcytosis 0 0 1 0 0 1
Spondyloenchondrodysplasia with immune dysregulation 0 0 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 4 0 0 1 0 0 1
Susceptibility to malaria 0 0 1 0 0 1
Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6 0 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 0 1 0 0 1
Tay-Sachs disease 1 0 0 0 0 1
Tyrosine kinase 2 deficiency 0 0 1 0 0 1
Warts, hypogammaglobulinemia, infections, and myelokathexis 1 0 0 0 0 1
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 0 1 0 0 0 1
Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia, complementation group Q 0 0 1 0 0 1

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