Center for Genomics (Ann and Robert H. Lurie Children's Hospital of Chicago)

General information

Center for Genomics
Ann and Robert H. Lurie Children's Hospital of Chicago
225 E. Chicago Avenue Box 82
Chicago
Illinois
United States - 60611
https://www.luriechildrens.org/en-us/Pages/index.aspx
Organization ID: 506344

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 924

Gene

GeneSubmissionsLast Updated
ACP51Dec 12, 2018
ACVRL11Dec 12, 2018
ADA2Dec 12, 2018
ADAMTS103Dec 12, 2018
ADAMTS176Dec 29, 2020
ADAMTS23Dec 12, 2018
ADAMTSL49Dec 29, 2020
ADAMTSL4-AS22Dec 12, 2018
ADAR2Dec 29, 2020
ADSL3Dec 12, 2018
ALDH7A11Dec 12, 2018
ALG131Dec 12, 2018
AP3B15Dec 29, 2020
ATM9Dec 29, 2020
ATP13A27Dec 12, 2018
ATP1A32Dec 12, 2018
ATP6AP21Dec 12, 2018
B4GALT71Dec 12, 2018
BCL11A2Jan 4, 2021
BCR3Dec 12, 2018
BLM4Dec 12, 2018
BRAF1Mar 6, 2020
BRCA21Dec 12, 2018
BTK1Dec 12, 2018
C11orf652Dec 12, 2018
C1QB1Dec 12, 2018
C1QC1Dec 12, 2018
C1R2Dec 29, 2020
C1S4Dec 29, 2020
C22Dec 29, 2020
C2-AS11Dec 12, 2018
C32Dec 29, 2020
C51Dec 12, 2018
C61Dec 12, 2018
C8A1Dec 12, 2018
C8B2Mar 6, 2020
C8G2Mar 6, 2020
C91Dec 29, 2020
CACNA2D22Dec 12, 2018
CARD112Dec 12, 2018
CARD141Dec 29, 2020
CARD94Dec 29, 2020
CASP101Dec 12, 2018
CASP81Dec 12, 2018
CBS2Dec 12, 2018
CCBE11Dec 12, 2018
CCR22Dec 12, 2018
CCR51Dec 29, 2020
CCR5AS1Dec 29, 2020
CD191Mar 6, 2020
CD2071Dec 12, 2018
CD2092Mar 6, 2020
CD223Dec 29, 2020
CD2472Dec 29, 2020
CD3E1Mar 6, 2020
CD41Dec 12, 2018
CD401Dec 12, 2018
CD441Dec 12, 2018
CD79A1Dec 29, 2020
CD79B1Dec 12, 2018
CD812Dec 29, 2020
CD8A3Dec 29, 2020
CDCA7L1Mar 3, 2020
CDKL51Dec 12, 2018
CEBPA1Dec 12, 2018
CFB1Dec 29, 2020
CFD1Dec 12, 2018
CFH2Dec 12, 2018
CFHR42Mar 6, 2020
CFI1Dec 12, 2018
CFP1Mar 6, 2020
CHD24Dec 12, 2018
CHD77Mar 6, 2020
CHRNA22Dec 12, 2018
CHRNA45Dec 12, 2018
CIITA6Dec 29, 2020
CLCN41Dec 12, 2018
CLCN71Dec 12, 2018
CLEC7A1Dec 12, 2018
CLN61Dec 12, 2018
CLN82Dec 12, 2018
CNTNAP25Dec 12, 2018
COL3A16Dec 29, 2020
COL5A112Dec 29, 2020
COL5A29Dec 29, 2020
COLEC111Dec 29, 2020
CORO1A1Mar 6, 2020
CR25Dec 29, 2020
CRKL1Dec 12, 2018
CSF2RA1Mar 6, 2020
CSF3R2Dec 12, 2018
CTLA41Dec 12, 2018
CTSD1Dec 12, 2018
CX3CR11Dec 29, 2020
CXCL121Dec 12, 2018
CXCR12Dec 29, 2020
CXCR41Dec 12, 2018
CYB561D21Dec 12, 2018
CYBA2Mar 6, 2020
CYBB1Dec 12, 2018
DCLRE1C3Jan 4, 2021
DEPDC51Dec 12, 2018
DNAH112Mar 3, 2020
DNM11Dec 12, 2018
DNMT3B2Dec 29, 2020
DOCK85Dec 29, 2020
DUSP292Dec 12, 2018
DYNC1H110Dec 12, 2018
DYRK1A1Dec 12, 2018
EEF1A21Dec 12, 2018
EFEMP22Dec 29, 2020
EFHC11Dec 12, 2018
ELANE1Dec 29, 2020
EPG59Dec 29, 2020
EPM2A2Dec 12, 2018
ERCC41Dec 12, 2018
FANCA2Dec 12, 2018
FANCD22Mar 6, 2020
FANCF1Dec 29, 2020
FANCI2Dec 12, 2018
FANCL2Dec 12, 2018
FANCM3Dec 12, 2018
FAS2Mar 6, 2020
FASLG3Dec 29, 2020
FBN127Dec 29, 2020
FBN211Dec 29, 2020
FBXO30-DT1Dec 12, 2018
FCGR3A2Dec 12, 2018
FERMT34Mar 6, 2020
FLNA5Dec 12, 2018
FOXN12Dec 12, 2018
FOXP32Dec 29, 2020
G6PC32Dec 12, 2018
G6PD1Dec 12, 2018
GABRA11Dec 12, 2018
GABRG22Dec 12, 2018
GAMT3Dec 12, 2018
GATM1Dec 12, 2018
GH-LCR1Dec 12, 2018
GJB22Mar 6, 2020
GRIN12Dec 12, 2018
GRIN2B3Dec 12, 2018
HAX11Dec 29, 2020
HCN11Dec 12, 2018
HEXA1Dec 12, 2018
HNRNPU3Dec 12, 2018
ICAM11Mar 6, 2020
IFIH112Dec 29, 2020
IFNGR13Dec 29, 2020
IFNGR21Dec 29, 2020
IKBKG1Dec 12, 2018
IL101Dec 12, 2018
IL10RB1Dec 29, 2020
IL12B2Dec 29, 2020
IL17RA4Dec 29, 2020
IL191Dec 12, 2018
IL1RN1Mar 6, 2020
IL21R2Dec 29, 2020
IL21R-AS11Dec 29, 2020
IL2RA1Dec 12, 2018
IL2RG1Dec 29, 2020
IL4R3Dec 29, 2020
IL7R3Dec 29, 2020
INO802Dec 29, 2020
IRF81Dec 29, 2020
ISG151Mar 6, 2020
ITGAM1Dec 29, 2020
ITGB23Dec 29, 2020
ITK1Dec 12, 2018
JAK32Dec 29, 2020
KANSL13Dec 12, 2018
KAT6B4Dec 12, 2018
KCNB11Dec 12, 2018
KCNH24Dec 12, 2018
KCNJ101Dec 12, 2018
KCNMA11Dec 12, 2018
KCNMA1-AS11Dec 12, 2018
KCNQ23Dec 12, 2018
KCNQ31Dec 12, 2018
KCNT13Dec 12, 2018
KMT2D12Dec 29, 2020
KRAS2Dec 12, 2018
LAMTOR21Dec 29, 2020
LCK1Dec 29, 2020
LIG44Dec 29, 2020
LIPA1Dec 12, 2018
LOC1014482025Dec 29, 2020
LOC1027240581Dec 12, 2018
LOC1060293121Dec 12, 2018
LOC1067808031Dec 12, 2018
LOC1073033382Mar 6, 2020
LOC1076488511Mar 6, 2020
LOC1148034701Dec 12, 2018
LOC1148034781Dec 12, 2018
LOX1Dec 29, 2020
LPIN25Mar 6, 2020
LRBA6Dec 29, 2020
LTBP29Mar 6, 2020
LYST10Dec 29, 2020
MAGI22Dec 12, 2018
MALT11Dec 29, 2020
MAP2K11Dec 12, 2018
MAP3K141Dec 12, 2018
MASP14Dec 29, 2020
MASP24Dec 29, 2020
MBD51Dec 12, 2018
MCFD21Dec 12, 2018
MCM43Dec 29, 2020
MECP22Dec 12, 2018
MEFV16Dec 29, 2020
MFSD82Dec 12, 2018
MOGS3Dec 12, 2018
MRE111Dec 12, 2018
MS4A11Dec 12, 2018
MTHFD11Dec 29, 2020
MUS811Mar 6, 2020
MYH118Dec 29, 2020
MYLK8Dec 12, 2018
MYLK-AS11Dec 12, 2018
NBN2Dec 29, 2020
NCF11Dec 12, 2018
NCF21Dec 29, 2020
NDE16Dec 29, 2020
NEXMIF2Dec 12, 2018
NF16Mar 6, 2020
NFKB21Dec 12, 2018
NHEJ11Dec 12, 2018
NKIRAS11Dec 12, 2018
NLRP123Dec 29, 2020
NLRP36Dec 29, 2020
NOD26Dec 29, 2020
NOTCH17Dec 29, 2020
NPIPB22Dec 29, 2020
NPR21Dec 12, 2018
NRAS1Sep 22, 2017
NRXN14Dec 12, 2018
ORAI11Dec 29, 2020
PALB21Mar 6, 2020
PCDH193Dec 12, 2018
PGM35Dec 12, 2018
PHKA21Dec 12, 2018
PIGA1Dec 12, 2018
PIGO3Dec 12, 2018
PIGV2Dec 12, 2018
PIK3CD1Dec 29, 2020
PIK3R11Dec 12, 2018
PLCB11Dec 12, 2018
PLCG25Dec 29, 2020
PLOD13Dec 29, 2020
PNKP1Dec 12, 2018
PNP1Dec 29, 2020
PNPO2Dec 12, 2018
POLE5Dec 29, 2020
POLG13Mar 6, 2020
PRF12Dec 29, 2020
PRICKLE11Dec 12, 2018
PRICKLE23Dec 12, 2018
PRICKLE2-AS12Dec 12, 2018
PRKCD1Dec 12, 2018
PRKDC4Dec 29, 2020
PRRT22Dec 12, 2018
PSTPIP13Dec 29, 2020
PTPN117Mar 6, 2020
PTPN62Dec 29, 2020
PTPRC6Mar 6, 2020
QARS12Dec 12, 2018
RAB27A1Mar 6, 2020
RAF11Sep 22, 2017
RAG13Dec 12, 2018
RAG21Dec 12, 2018
RBCK12Dec 29, 2020
RELA3Mar 6, 2020
RFX51Dec 29, 2020
RFXANK2Dec 29, 2020
RIT11Mar 6, 2020
RNASEH2B1Dec 29, 2020
RNF1681Dec 29, 2020
ROGDI2Dec 12, 2018
RPL151Dec 12, 2018
RPSA1Dec 12, 2018
RTEL16Dec 29, 2020
RTEL1-TNFRSF6B6Dec 29, 2020
SBDS2Dec 12, 2018
SCARB24Dec 12, 2018
SCN1A5Dec 12, 2018
SCN1A-AS13Dec 12, 2018
SCN2A5Dec 12, 2018
SCN8A1Dec 12, 2018
SCN9A3Dec 12, 2018
SDC11Dec 12, 2018
SELE4Dec 12, 2018
SELP6Dec 29, 2020
SERPING11Dec 12, 2018
SGSH1Dec 29, 2020
SH3BP24Dec 12, 2018
SKI4Dec 12, 2018
SLC25A121Dec 12, 2018
SLC29A31Dec 29, 2020
SLC2A14Dec 12, 2018
SLC2A102Dec 29, 2020
SLC35C11Dec 12, 2018
SLC37A42Mar 6, 2020
SLC6A11Dec 12, 2018
SLX44Mar 6, 2020
SMAD32Mar 6, 2020
SMAD41Dec 12, 2018
SMARCAL13Dec 29, 2020
SNHG141Dec 12, 2018
SOS13Dec 29, 2020
SP1104Jan 4, 2021
SP1402Dec 29, 2020
SPINK54Mar 6, 2020
SPTAN13Dec 12, 2018
ST3GAL31Dec 12, 2018
ST3GAL51Dec 12, 2018
STAT12Dec 12, 2018
STAT21Dec 12, 2018
STAT31Dec 12, 2018
STAT5B3Dec 29, 2020
STIM15Dec 29, 2020
STXBP21Dec 12, 2018
TAP12Mar 6, 2020
TAP25Dec 29, 2020
TAPBP1Dec 12, 2018
TARDBP1Dec 12, 2018
TBC1D241Dec 12, 2018
TBL1XR11Dec 12, 2018
TBX12Dec 29, 2020
TBX215Dec 29, 2020
TBXAS12Dec 12, 2018
TCF33Mar 6, 2020
TCF41Mar 6, 2020
TCN25Mar 6, 2020
TERT3Mar 6, 2020
TGFB32Dec 29, 2020
TGFBR24Dec 12, 2018
THBD1Dec 12, 2018
TICAM12Dec 29, 2020
TINF21Dec 29, 2020
TLR21Dec 29, 2020
TMC65Dec 29, 2020
TMC86Dec 29, 2020
TNFRSF13B1Dec 12, 2018
TNFRSF172Dec 29, 2020
TNFRSF1A2Dec 29, 2020
TNFSF12-TNFSF131Dec 12, 2018
TNFSF131Dec 12, 2018
TNXB10Dec 29, 2020
TPP13Dec 29, 2020
TRAF3IP21Dec 12, 2018
TRAF3IP2-AS11Dec 12, 2018
TRNT11Mar 6, 2020
TSC12Mar 6, 2020
TSC219Mar 6, 2020
TTC375Mar 6, 2020
TTC7A5Dec 29, 2020
TYK23Dec 29, 2020
UBE3A1Dec 12, 2018
UNC1191Dec 12, 2018
UNC13D4Dec 29, 2020
UNC93B11Dec 12, 2018
USB11Dec 12, 2018
VAV12Dec 12, 2018
VPS13B18Dec 29, 2020
VPS451Dec 12, 2018
WAS1Dec 12, 2018
WDR451Dec 12, 2018
WRAP532Dec 12, 2018
WWOX1Dec 12, 2018
ZAP701Dec 12, 2018
ZBTB241Dec 29, 2020
ZEB22Dec 12, 2018
ZNF4693Mar 6, 2020

Condition

NameSubmissionsLast Updated
3MC syndrome 14Dec 29, 2020
3MC syndrome 21Dec 29, 2020
Acromesomelic dysplasia, Maroteaux type1Dec 12, 2018
Acromicric dysplasia21Dec 29, 2020
Acute lymphoid leukemia2Dec 29, 2020
Acute myeloid leukemia4Dec 12, 2018
Adams-Oliver syndrome 57Dec 29, 2020
Adenylosuccinate lyase deficiency3Dec 12, 2018
Adult neuronal ceroid lipofuscinosis1Dec 12, 2018
Afibrinogenemia1Dec 12, 2018
Agammaglobulinemia 3, autosomal recessive1Dec 29, 2020
Agammaglobulinemia 6, autosomal recessive1Dec 12, 2018
Agammaglobulinemia 7, autosomal recessive1Dec 12, 2018
Agammaglobulinemia 8, autosomal dominant3Mar 6, 2020
Age-related macular degeneration 121Dec 29, 2020
Age-related macular degeneration 131Dec 12, 2018
Age-related macular degeneration 143Dec 29, 2020
Age-related macular degeneration 42Dec 12, 2018
Age-related macular degeneration 92Dec 29, 2020
Aicardi Goutieres syndrome 21Dec 29, 2020
Aicardi-Goutieres syndrome 62Dec 29, 2020
Aicardi-Goutieres syndrome 712Dec 29, 2020
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity3Dec 12, 2018
Alternating hemiplegia of childhood 22Dec 12, 2018
Angelman syndrome1Dec 12, 2018
Aortic aneurysm, familial thoracic 101Dec 29, 2020
Aortic aneurysm, familial thoracic 48Dec 29, 2020
Aortic aneurysm, familial thoracic 78Dec 12, 2018
Aortic valve disorder7Dec 29, 2020
Aplastic anemia6Dec 29, 2020
Arginine:glycine amidinotransferase deficiency1Dec 12, 2018
Arrhythmogenic right ventricular dysplasia, familial 11Dec 29, 2020
Arterial tortuosity syndrome2Dec 29, 2020
Asplenia, isolated congenital1Dec 12, 2018
Asthma, nasal polyps, and aspirin intolerance5Dec 29, 2020
Ataxia-oculomotor apraxia 41Dec 12, 2018
Ataxia-telangiectasia syndrome9Dec 29, 2020
Ataxia-telangiectasia-like disorder 11Dec 12, 2018
Atypical hemolytic-uremic syndrome 12Dec 12, 2018
Atypical hemolytic-uremic syndrome 31Dec 12, 2018
Atypical hemolytic-uremic syndrome 41Dec 29, 2020
Atypical hemolytic-uremic syndrome 52Dec 29, 2020
Atypical hemolytic-uremic syndrome 61Dec 12, 2018
Atypical mycobacteriosis, familial, X-linked 21Dec 12, 2018
Autism 155Dec 12, 2018
Autism, susceptibility to, X-linked 32Dec 12, 2018
Autoimmune disease, multisystem, infantile-onset, 11Dec 12, 2018
Autoimmune disease, multisystem, infantile-onset, 21Dec 12, 2018
Autoimmune lymphoproliferatiVe syndrome, type V1Dec 12, 2018
Autoimmune lymphoproliferative syndrome5Dec 29, 2020
Autoimmune lymphoproliferative syndrome type 2B1Dec 12, 2018
Autoimmune lymphoproliferative syndrome, type 2A1Dec 12, 2018
Autoimmune lymphoproliferative syndrome, type III1Dec 12, 2018
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated5Dec 29, 2020
Autosomal dominant osteopetrosis 21Dec 12, 2018
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 113Mar 6, 2020
Autosomal recessive cutis laxa type 1B2Dec 29, 2020
Autosomal recessive osteopetrosis 41Dec 12, 2018
B-cell expansion with NFKB and T-cell anergy2Dec 12, 2018
Bare lymphocyte syndrome 29Dec 29, 2020
Bare lymphocyte syndrome type 18Dec 29, 2020
Basal laminar drusen2Dec 12, 2018
Benign familial neonatal seizures 13Dec 12, 2018
Benign familial neonatal seizures 21Dec 12, 2018
Birbeck granule deficiency1Dec 12, 2018
Blau syndrome6Dec 29, 2020
Blepharophimosis - intellectual disability syndrome, SBBYS type4Dec 12, 2018
Bloom syndrome4Dec 12, 2018
Breast-ovarian cancer, familial 21Dec 12, 2018
Brittle cornea syndrome 13Mar 6, 2020
C1q deficiency2Dec 12, 2018
CHARGE association7Mar 6, 2020
Café-au-lait macules with pulmonary stenosis4Mar 6, 2020
Candidiasis, familial, 24Dec 29, 2020
Candidiasis, familial, 81Dec 12, 2018
Carcinoma of pancreas1Dec 12, 2018
Cardiac valvular dysplasia, X-linked5Dec 12, 2018
Cardiofaciocutaneous syndrome 11Mar 6, 2020
Cardiofaciocutaneous syndrome 22Dec 12, 2018
Cardiofaciocutaneous syndrome 31Dec 12, 2018
Cd8 deficiency, familial3Dec 29, 2020
Celiac disease 31Dec 12, 2018
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome2Dec 12, 2018
Cerebellar atrophy, developmental delay, and seizures1Dec 12, 2018
Ceroid lipofuscinosis neuronal 23Dec 29, 2020
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant2Dec 12, 2018
Charcot-Marie-Tooth disease, axonal, type 2O10Dec 12, 2018
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia3Dec 29, 2020
Chronic granulomatous disease, X-linked1Dec 12, 2018
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 11Dec 12, 2018
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 21Dec 29, 2020
Chronic infantile neurological, cutaneous and articular syndrome6Dec 29, 2020
Chédiak-Higashi syndrome10Dec 29, 2020
Ciliary dyskinesia, primary, 72Mar 3, 2020
Classic homocystinuria2Dec 12, 2018
Cognitive impairment with or without cerebellar ataxia1Dec 12, 2018
Cohen syndrome18Dec 29, 2020
Colorectal cancer1Dec 29, 2020
Combined cellular and humoral immune defects with granulomas4Dec 12, 2018
Combined immunodeficiency due to ORAI1 deficiency1Dec 29, 2020
Combined immunodeficiency due to STIM1 deficiency5Dec 29, 2020
Combined immunodeficiency due to ZAP70 deficiency1Dec 12, 2018
Combined immunodeficiency, X-linked1Dec 29, 2020
Common variable immunodeficiency 101Dec 12, 2018
Common variable immunodeficiency 21Dec 12, 2018
Common variable immunodeficiency 31Mar 6, 2020
Common variable immunodeficiency 51Dec 12, 2018
Common variable immunodeficiency 62Dec 29, 2020
Common variable immunodeficiency 75Dec 29, 2020
Common variable immunodeficiency 8, with autoimmunity6Dec 29, 2020
Complement component 2 deficiency2Dec 29, 2020
Complement component 3 deficiency, autosomal recessive2Dec 29, 2020
Complement component 4, partial deficiency of1Dec 12, 2018
Complement component 5 deficiency1Dec 12, 2018
Complement component 6 deficiency1Dec 12, 2018
Complement component 9 deficiency1Dec 29, 2020
Complement component c1s deficiency4Dec 29, 2020
Complement factor B deficiency1Dec 29, 2020
Complement factor d deficiency1Dec 12, 2018
Congenital contractural arachnodactyly11Dec 29, 2020
Congenital disorder of glycosylation type 2B3Dec 12, 2018
Conotruncal heart malformations2Dec 29, 2020
Corneal dystrophy, Fuchs endothelial, 31Mar 6, 2020
Coronary heart disease 11Dec 29, 2020
Cutaneous malignant melanoma 92Dec 12, 2018
Cyclical neutropenia1Dec 29, 2020
DOORS syndrome1Dec 12, 2018
Deafness, autosomal dominant 3a2Mar 6, 2020
Deafness, autosomal dominant 651Dec 12, 2018
Deafness, autosomal recessive 1A2Mar 6, 2020
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct1Dec 12, 2018
Deafness, autosomal recessive 861Dec 12, 2018
Deficiency of guanidinoacetate methyltransferase3Dec 12, 2018
DiGeorge sequence2Dec 29, 2020
Diabetes mellitus type 11Dec 29, 2020
Diabetes mellitus, insulin-dependent, 101Dec 12, 2018
Diabetes mellitus, insulin-dependent, 121Dec 12, 2018
Diabetes mellitus, insulin-dependent, 221Dec 29, 2020
Diamond-Blackfan anemia 121Dec 12, 2018
Disseminated atypical mycobacterial infection3Dec 29, 2020
Dyskeratosis congenita, autosomal dominant, 23Mar 6, 2020
Dyskeratosis congenita, autosomal dominant, 31Dec 29, 2020
Dyskeratosis congenita, autosomal recessive, 32Dec 12, 2018
Dyskeratosis congenita, autosomal recessive, 56Dec 29, 2020
Dystonia 122Dec 12, 2018
Dystonia 94Dec 12, 2018
EAST syndrome1Dec 12, 2018
EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 110Dec 29, 2020
Early infantile epileptic encephalopathy 101Dec 12, 2018
Early infantile epileptic encephalopathy 115Dec 12, 2018
Early infantile epileptic encephalopathy 121Dec 12, 2018
Early infantile epileptic encephalopathy 131Dec 12, 2018
Early infantile epileptic encephalopathy 143Dec 12, 2018
Early infantile epileptic encephalopathy 151Dec 12, 2018
Early infantile epileptic encephalopathy 161Dec 12, 2018
Early infantile epileptic encephalopathy 21Dec 12, 2018
Early infantile epileptic encephalopathy 53Dec 12, 2018
Early infantile epileptic encephalopathy 73Dec 12, 2018
Early infantile epileptic encephalopathy 93Dec 12, 2018
Ectodermal dysplasia and immunodeficiency 11Dec 12, 2018
Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema1Dec 12, 2018
Ectopia lentis 2, isolated, autosomal recessive9Dec 29, 2020
Ectopia lentis et pupillae9Dec 29, 2020
Ectopia lentis, isolated, autosomal dominant21Dec 29, 2020
Ehlers-Danlos syndrome dermatosparaxis type3Dec 12, 2018
Ehlers-Danlos syndrome due to tenascin-X deficiency10Dec 29, 2020
Ehlers-Danlos syndrome progeroid type1Dec 12, 2018
Ehlers-Danlos syndrome, classic type21Dec 29, 2020
Ehlers-Danlos syndrome, hydroxylysine-deficient3Dec 29, 2020
Ehlers-Danlos syndrome, periodontal type, 24Dec 29, 2020
Ehlers-Danlos syndrome, type 46Dec 29, 2020
Ehlers-Danlos syndrome, type 82Dec 29, 2020
Epidermal nevus syndrome1Dec 12, 2018
Epilepsy, childhood absence 22Dec 12, 2018
Epilepsy, familial focal, with variable foci 11Dec 12, 2018
Epilepsy, idiopathic generalized, susceptibility to, 124Dec 12, 2018
Epilepsy, juvenile absence, susceptibility to, 11Dec 12, 2018
Epilepsy, juvenile myoclonic 51Dec 12, 2018
Epilepsy, nocturnal frontal lobe, 53Dec 12, 2018
Epilepsy, nocturnal frontal lobe, type 15Dec 12, 2018
Epilepsy, nocturnal frontal lobe, type 42Dec 12, 2018
Epilepsy, progressive myoclonic 4, with or without renal failure4Dec 12, 2018
Epileptic encephalopathy, childhood-onset4Dec 12, 2018
Epileptic encephalopathy, early infantile, 191Dec 12, 2018
Epileptic encephalopathy, early infantile, 241Dec 12, 2018
Epileptic encephalopathy, early infantile, 261Dec 12, 2018
Epileptic encephalopathy, early infantile, 273Dec 12, 2018
Epileptic encephalopathy, early infantile, 281Dec 12, 2018
Epileptic encephalopathy, early infantile, 311Dec 12, 2018
Epileptic encephalopathy, early infantile, 331Dec 12, 2018
Epileptic encephalopathy, early infantile, 361Dec 12, 2018
Epileptic encephalopathy, early infantile, 543Dec 12, 2018
Epiphyseal chondrodysplasia, miura type1Dec 12, 2018
Episodic kinesigenic dyskinesia 12Dec 12, 2018
FG syndrome 25Dec 12, 2018
Facial dysmorphism, immunodeficiency, livedo, and short stature3Dec 12, 2018
Factor H deficiency2Dec 12, 2018
Familial Mediterranean fever16Dec 29, 2020
Familial amyloid nephropathy with urticaria AND deafness6Dec 29, 2020
Familial atypical mycobacteriosis, type 1, X-linked1Dec 12, 2018
Familial cancer of breast11Dec 29, 2020
Familial chronic mucocutaneous candidiasis1Dec 12, 2018
Familial cold autoinflammatory syndrome 23Dec 29, 2020
Familial cold autoinflammatory syndrome 35Dec 29, 2020
Familial cold urticaria6Dec 29, 2020
Familial febrile seizures 82Dec 12, 2018
Familial hemiplegic migraine type 35Dec 12, 2018
Familial hemophagocytic lymphohistiocytosis 22Dec 29, 2020
Familial hemophagocytic lymphohistiocytosis 34Dec 29, 2020
Familial mediterranean fever, autosomal dominant16Dec 29, 2020
Fanconi anemia, complementation group A2Dec 12, 2018
Fanconi anemia, complementation group D11Dec 12, 2018
Fanconi anemia, complementation group D22Mar 6, 2020
Fanconi anemia, complementation group F1Dec 29, 2020
Fanconi anemia, complementation group I2Dec 12, 2018
Fanconi anemia, complementation group L2Dec 12, 2018
Fanconi anemia, complementation group P4Mar 6, 2020
Fanconi anemia, complementation group Q1Dec 12, 2018
Fibrous dysplasia of jaw4Dec 12, 2018
Focal cortical dysplasia type II21Mar 6, 2020
Frontometaphyseal dysplasia 15Dec 12, 2018
GLUT1 deficiency syndrome 14Dec 12, 2018
GLUT1 deficiency syndrome 24Dec 12, 2018
Geleophysic dysplasia 221Dec 29, 2020
Generalized epilepsy with febrile seizures plus, type 25Dec 12, 2018
Generalized epilepsy with febrile seizures plus, type 73Dec 12, 2018
Genitopatellar syndrome4Dec 12, 2018
Ghosal hematodiaphyseal dysplasia2Dec 12, 2018
Gingival fibromatosis 12Dec 29, 2020
Glaucoma 3, primary congenital, d3Mar 6, 2020
Glioma susceptibility 31Dec 12, 2018
Glucose-6-phosphate transport defect2Mar 6, 2020
Glycogen storage disease type IXa11Dec 12, 2018
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative2Mar 6, 2020
Griscelli syndrome type 21Mar 6, 2020
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1Dec 29, 2020
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive3Dec 29, 2020
Hashimoto thyroiditis1Dec 12, 2018
Helicobacter pylori infection, susceptibility to1Dec 29, 2020
Hemophagocytic lymphohistiocytosis, familial, 51Dec 12, 2018
Hennekam lymphangiectasia-lymphedema syndrome 11Dec 12, 2018
Hepatic veno-occlusive disease-immunodeficiency syndrome4Jan 4, 2021
Hepatitis b virus, susceptibility to1Dec 29, 2020
Hereditary angioedema type 11Dec 12, 2018
Hereditary nonpolyposis colorectal cancer type 63Dec 12, 2018
Hermansky-Pudlak syndrome 25Dec 29, 2020
Herpes simplex encephalitis, susceptibility to, 41Dec 29, 2020
Histiocytic medullary reticulosis7Jan 4, 2021
Histiocytosis-lymphadenopathy plus syndrome1Dec 29, 2020
Human immunodeficiency virus type 1, susceptibility to4Dec 29, 2020
Hyper-IgE recurrent infection syndrome 1, autosomal dominant1Dec 12, 2018
Hyper-IgM syndrome type 31Dec 12, 2018
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive5Dec 29, 2020
Hyperphosphatasia with mental retardation syndrome 12Dec 12, 2018
Hyperphosphatasia with mental retardation syndrome 23Dec 12, 2018
Hypogonadotropic hypogonadism 5 with or without anosmia7Mar 6, 2020
Hypomyelination, global cerebral1Dec 12, 2018
Hystrix-like ichthyosis with deafness2Mar 6, 2020
IL21R immunodeficiency2Dec 29, 2020
Ige responsiveness, atopic4Dec 29, 2020
Immunodeficiency 112Dec 12, 2018
Immunodeficiency 11b with atopic dermatitis2Dec 12, 2018
Immunodeficiency 121Dec 29, 2020
Immunodeficiency 131Dec 12, 2018
Immunodeficiency 141Dec 29, 2020
Immunodeficiency 181Mar 6, 2020
Immunodeficiency 202Dec 12, 2018
Immunodeficiency 221Dec 29, 2020
Immunodeficiency 235Dec 12, 2018
Immunodeficiency 26 with or without neurologic abnormalities4Dec 29, 2020
Immunodeficiency 27b3Dec 29, 2020
Immunodeficiency 281Dec 29, 2020
Immunodeficiency 292Dec 29, 2020
Immunodeficiency 31C2Dec 12, 2018
Immunodeficiency 31a2Dec 12, 2018
Immunodeficiency 32a1Dec 29, 2020
Immunodeficiency 32b1Dec 29, 2020
Immunodeficiency 361Dec 12, 2018
Immunodeficiency 38 with basal ganglia calcification1Mar 6, 2020
Immunodeficiency 441Dec 12, 2018
Immunodeficiency 514Dec 29, 2020
Immunodeficiency 81Mar 6, 2020
Immunodeficiency due to defect in cd3-zeta2Dec 29, 2020
Immunodeficiency due to defect in mapbp-interacting protein1Dec 29, 2020
Immunodeficiency without anhidrotic ectodermal dysplasia1Dec 12, 2018
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Dec 29, 2020
Immunodeficiency-centromeric instability-facial anomalies syndrome 21Dec 29, 2020
Immunoglobulin A deficiency 21Dec 12, 2018
Incontinentia pigmenti syndrome1Dec 12, 2018
Indifference to pain, congenital, autosomal recessive3Dec 12, 2018
Infantile convulsions and choreoathetosis2Dec 12, 2018
Inflammatory bowel disease 15Dec 29, 2020
Insulin-dependent diabetes mellitus secretory diarrhea syndrome2Dec 29, 2020
Intellectual developmental disorder with persistence of fetal hemoglobin2Jan 4, 2021
Interleukin 2 receptor, alpha, deficiency of1Dec 12, 2018
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked5Dec 12, 2018
Juvenile myelomonocytic leukemia3Dec 12, 2018
Juvenile myoclonic epilepsy1Dec 12, 2018
Juvenile polyposis syndrome1Dec 12, 2018
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome1Dec 12, 2018
Kabuki syndrome 112Dec 29, 2020
Keratitis-ichthyosis-deafness syndrome, autosomal dominant2Mar 6, 2020
Knuckle pads, deafness AND leukonychia syndrome2Mar 6, 2020
Kohlschutter's syndrome2Dec 12, 2018
Koolen-de Vries syndrome3Dec 12, 2018
Kostmann syndrome1Dec 29, 2020
Kufor-Rakeb syndrome7Dec 12, 2018
LEOPARD syndrome 17Mar 6, 2020
LEOPARD syndrome 21Sep 22, 2017
LEOPARD syndrome 31Mar 6, 2020
Lafora disease2Dec 12, 2018
Leprosy 31Dec 29, 2020
Leukocyte adhesion deficiency 12Dec 12, 2018
Leukocyte adhesion deficiency type II1Dec 12, 2018
Leukocyte adhesion deficiency, type III3Dec 12, 2018
Lig4 syndrome4Dec 29, 2020
Loeys-Dietz syndrome 24Dec 12, 2018
Loeys-Dietz syndrome 32Mar 6, 2020
Loeys-Dietz syndrome 52Dec 29, 2020
Long QT syndrome 24Dec 12, 2018
Lung cancer1Dec 29, 2020
Lymphangiomyomatosis21Mar 6, 2020
Lymphoma, Non-Hodgkin, Familial2Dec 29, 2020
Lymphoproliferative syndrome 11Dec 12, 2018
Lysosomal acid lipase deficiency1Dec 12, 2018
MASP2 deficiency4Dec 29, 2020
MASS syndrome21Dec 29, 2020
Macular degeneration, age-related, 151Dec 29, 2020
Macular degeneration, early-onset9Dec 29, 2020
Macular dystrophy with central cone involvement2Dec 12, 2018
Majeed syndrome5Mar 6, 2020
Malignant tumor of esophagus1Dec 12, 2018
Malignant tumor of prostate1Dec 12, 2018
Marfan lipodystrophy syndrome21Dec 29, 2020
Marfan syndrome27Dec 29, 2020
Medulloblastoma1Dec 12, 2018
Melnick-Needles syndrome5Dec 12, 2018
Mental retardation 49, X-linked1Dec 12, 2018
Mental retardation, X-linked 982Dec 12, 2018
Mental retardation, X-linked, syndromic 132Dec 12, 2018
Mental retardation, X-linked, syndromic, Hedera type1Dec 12, 2018
Mental retardation, autosomal dominant 11Dec 12, 2018
Mental retardation, autosomal dominant 1310Dec 12, 2018
Mental retardation, autosomal dominant 381Dec 12, 2018
Mental retardation, autosomal dominant 411Dec 12, 2018
Mental retardation, autosomal dominant 63Dec 12, 2018
Mental retardation, autosomal dominant 71Dec 12, 2018
Mental retardation, autosomal recessive 121Dec 12, 2018
Metachondromatosis4Mar 6, 2020
Microcephaly, normal intelligence and immunodeficiency2Dec 29, 2020
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy2Dec 12, 2018
Microspherophakia3Mar 6, 2020
Mitochondrial DNA depletion syndrome 4B, MNGIE type13Mar 6, 2020
Mowat-Wilson syndrome2Dec 12, 2018
Multiple congenital anomalies-hypotonia-seizures syndrome 21Dec 12, 2018
Multiple gastrointestinal atresias5Dec 29, 2020
Multiple myeloma1Dec 29, 2020
Multiple sclerosis, susceptibility to, 51Dec 29, 2020
Mutilating keratoderma2Mar 6, 2020
Mycobacterial and viral infections, susceptibility to, autosomal recessive2Dec 12, 2018
Mycobacterium tuberculosis, susceptibility to5Jan 4, 2021
Myhre syndrome1Dec 12, 2018
Myoclonic epilepsy, familial infantile1Dec 12, 2018
Myoclonic-atonic epilepsy1Dec 12, 2018
Myopathy, tubular aggregate, 15Dec 29, 2020
Myopathy, tubular aggregate, 21Dec 29, 2020
Natural killer cell and glucocorticoid deficiency with DNA repair defect3Dec 29, 2020
Neoplasm of stomach1Dec 12, 2018
Nephrotic syndrome type 152Dec 12, 2018
Netherton syndrome4Mar 6, 2020
Neurodegeneration with brain iron accumulation 51Dec 12, 2018
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant2Dec 12, 2018
Neurofibromatosis, familial spinal4Mar 6, 2020
Neurofibromatosis, type 16Mar 6, 2020
Neurofibromatosis-Noonan syndrome4Mar 6, 2020
Neuronal ceroid lipofuscinosis 101Dec 12, 2018
Neuronal ceroid lipofuscinosis 61Dec 12, 2018
Neuronal ceroid lipofuscinosis 72Dec 12, 2018
Neuronal ceroid lipofuscinosis 82Dec 12, 2018
Neutropenia, severe congenital 1, autosomal dominant1Dec 29, 2020
Neutropenia, severe congenital, 7, autosomal recessive2Dec 12, 2018
Noonan syndrome 17Mar 6, 2020
Noonan syndrome 32Dec 12, 2018
Noonan syndrome 43Dec 29, 2020
Noonan syndrome 51Sep 22, 2017
Noonan syndrome 61Sep 22, 2017
Noonan syndrome 71Mar 6, 2020
Noonan syndrome 81Mar 6, 2020
Okt4 epitope deficiency1Dec 12, 2018
Osteomyelitis, sterile multifocal, with periostitis and pustulosis1Mar 6, 2020
Oto-palato-digital syndrome, type I5Dec 12, 2018
Oto-palato-digital syndrome, type II5Dec 12, 2018
Palmoplantar keratoderma-deafness syndrome2Mar 6, 2020
Pancreatic cancer 21Dec 12, 2018
Pancreatic cancer 31Mar 6, 2020
Parkinsonism with spasticity, X-linked1Dec 12, 2018
Paroxysmal extreme pain disorder3Dec 12, 2018
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy1Dec 12, 2018
Periventricular nodular heterotopia 15Dec 12, 2018
Phosphate transport defect2Mar 6, 2020
Pierpont syndrome1Dec 12, 2018
Pitt-Hopkins syndrome1Mar 6, 2020
Pitt-Hopkins-like syndrome 15Dec 12, 2018
Pitt-Hopkins-like syndrome 24Dec 12, 2018
Pityriasis rubra pilaris1Dec 29, 2020
Poikiloderma with neutropenia1Dec 12, 2018
Polyglucosan body myopathy 1 with or without immunodeficiency2Dec 29, 2020
Primary erythromelalgia3Dec 12, 2018
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 113Mar 6, 2020
Progressive myoclonus epilepsy with ataxia1Dec 12, 2018
Progressive sclerosing poliodystrophy13Mar 6, 2020
Psoriasis susceptibility 21Dec 29, 2020
Psoriatic arthritis, susceptibility to3Dec 29, 2020
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 13Mar 6, 2020
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 36Dec 29, 2020
Purine-nucleoside phosphorylase deficiency1Dec 29, 2020
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome3Dec 29, 2020
Pyridoxal phosphate-responsive seizures2Dec 12, 2018
Pyridoxine-dependent epilepsy1Dec 12, 2018
RAS-associated autoimmune leukoproliferative disorder1Dec 12, 2018
Retinitis pigmentosa and erythrocytic microcytosis1Mar 6, 2020
Rett syndrome2Dec 12, 2018
Revesz syndrome1Dec 29, 2020
Rheumatoid arthritis3Dec 29, 2020
Riddle syndrome1Dec 29, 2020
SHORT syndrome1Dec 12, 2018
Schimke immuno-osseous dysplasia3Dec 29, 2020
Schizophrenia 174Dec 12, 2018
Seizures, benign familial infantile, 22Dec 12, 2018
Seizures, benign familial infantile, 35Dec 12, 2018
Seizures, benign familial infantile, 51Dec 12, 2018
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome13Mar 6, 2020
Severe combined immunodeficiency due to ADA deficiency2Dec 12, 2018
Severe combined immunodeficiency due to DCLRE1C deficiency3Jan 4, 2021
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation1Dec 12, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive4Dec 12, 2018
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative2Dec 29, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive9Dec 29, 2020
Severe congenital neutropenia 4, autosomal recessive2Dec 12, 2018
Severe congenital neutropenia 5, autosomal recessive1Dec 12, 2018
Severe myoclonic epilepsy in infancy8Dec 12, 2018
Severe neonatal-onset encephalopathy with microcephaly2Dec 12, 2018
Short QT syndrome 14Dec 12, 2018
Short stature with nonspecific skeletal abnormalities1Dec 12, 2018
Shprintzen syndrome2Dec 29, 2020
Shprintzen-Goldberg syndrome4Dec 12, 2018
Shwachman-Diamond syndrome 12Dec 12, 2018
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay1Mar 6, 2020
Singleton-Merten syndrome 112Dec 29, 2020
Spastic paraplegia 78, autosomal recessive7Dec 12, 2018
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant10Dec 12, 2018
Spinocerebellar ataxia, autosomal recessive 121Dec 12, 2018
Spondyloenchondrodysplasia with immune dysregulation1Dec 12, 2018
Stiff skin syndrome21Dec 29, 2020
Stomatin-deficient cryohydrocytosis with neurologic defects4Dec 12, 2018
Stormorken syndrome5Dec 29, 2020
Surfactant metabolism dysfunction, pulmonary, 41Mar 6, 2020
Susceptibility to malaria1Mar 6, 2020
Symmetrical dyschromatosis of extremities2Dec 29, 2020
Syndromic X-linked intellectual disability Lubs type2Dec 12, 2018
Systemic lupus erythematosus1Dec 12, 2018
Systemic lupus erythematosus 61Dec 29, 2020
Systemic lupus erythematosus 94Dec 29, 2020
T-cell immunodeficiency, congenital alopecia, and nail dystrophy2Dec 12, 2018
TNF receptor-associated periodic fever syndrome (TRAPS)2Dec 29, 2020
Tay-Sachs disease1Dec 12, 2018
Telangiectasia, hereditary hemorrhagic, type 21Dec 12, 2018
Terminal osseous dysplasia5Dec 12, 2018
Tetralogy of Fallot2Dec 29, 2020
Thrombophilia due to thrombomodulin defect1Dec 12, 2018
Thromboxane synthetase deficiency2Dec 12, 2018
Transcolabamin II deficiency5Mar 6, 2020
Trichohepatoenteric syndrome 15Mar 6, 2020
Tuberous sclerosis 12Mar 6, 2020
Tuberous sclerosis 219Mar 6, 2020
Type I complement component 8 deficiency1Dec 12, 2018
Type II complement component 8 deficiency2Mar 6, 2020
Tyrosine kinase 2 deficiency3Dec 29, 2020
Vesicoureteral reflux 810Dec 29, 2020
Vici syndrome9Dec 29, 2020
Warts, hypogammaglobulinemia, infections, and myelokathexis1Dec 12, 2018
Weill-Marchesani syndrome 13Dec 12, 2018
Weill-Marchesani syndrome 221Dec 29, 2020
Weill-Marchesani syndrome 39Mar 6, 2020
Weill-Marchesani syndrome 46Dec 29, 2020
West nile virus, susceptibility to1Dec 29, 2020
Wilms tumor 11Dec 12, 2018
Wiskott-Aldrich syndrome1Dec 12, 2018
X-linked agammaglobulinemia1Dec 12, 2018
X-linked agammaglobulinemia with growth hormone deficiency1Dec 12, 2018
X-linked severe combined immunodeficiency1Dec 29, 2020
X-linked severe congenital neutropenia1Dec 12, 2018
X-linked thrombocytopenia with normal platelets1Dec 12, 2018
XFE progeroid syndrome1Dec 12, 2018
Xeroderma pigmentosum, group F1Dec 12, 2018
Yao syndrome5Dec 29, 2020
not provided62Dec 29, 2020
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