U.S. flag

An official website of the United States government

Johns Hopkins Genomics (Johns Hopkins University), JHG

General information

Johns Hopkins Genomics, JHG
Johns Hopkins University
1812 Ashland Ave, Suite 200
Baltimore
Maryland
United States - 21205
http://jhgenomics.jhmi.edu/
Organization ID: 506823

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 888

Gene

GeneSubmissionsLast Updated
ABCA351Jan 6, 2022
ABCA43May 4, 2021
ABCC81Jul 30, 2021
ABCD131Jan 6, 2022
ACD2Jan 14, 2021
ACTG21Jan 14, 2021
ADA2May 28, 2020
ADA23Jan 14, 2021
ADAR1Aug 4, 2020
AIRE1Sep 2, 2020
ALMS13Apr 2, 2021
ALPL3Jun 3, 2021
ANKLE21Mar 6, 2020
ANKRD261Jul 30, 2021
ANLN1Aug 30, 2019
AP3B14May 8, 2019
APC1Nov 3, 2020
APOB1May 4, 2021
ARCN11Apr 2, 2021
ASPM1Feb 3, 2021
ATM2May 4, 2021
ATP1A31Jun 3, 2021
ATP7B1Jan 6, 2022
ATRIP1Jul 31, 2019
ATRIP-TREX11Jul 31, 2019
AUTS22Feb 3, 2021
AVPR21Oct 13, 2020
BBS51May 28, 2020
BICC12Jan 14, 2021
BMPR1B1Sep 13, 2021
BMPR21Nov 3, 2020
BMS11Sep 13, 2021
BPTF1Jul 31, 2019
BRCA14Jan 6, 2022
BRCA23Jun 3, 2021
BTD2Jul 30, 2021
C10orf1051Jan 6, 2022
C12orf42Aug 4, 2020
C1R1May 4, 2021
C1S1Jul 30, 2021
C31Apr 2, 2021
CA121Nov 14, 2019
CACNA1A1Oct 13, 2020
CACNA1D1May 4, 2021
CACNA1G1Aug 4, 2020
CACNA1S1Nov 3, 2020
CASR1May 4, 2021
CBL1Sep 13, 2021
CC2D2A1May 28, 2020
CCDC392Feb 3, 2021
CCDC403Apr 2, 2021
CCDC651Jan 6, 2022
CCNH1Jul 30, 2021
CD463Jul 30, 2021
CDH151Dec 5, 2019
CDH232Jan 6, 2022
CEP1642Sep 13, 2021
CERS11Aug 4, 2020
CFAP2981Jul 30, 2021
CFAP298-TCP10L1Jul 30, 2021
CFB1Apr 2, 2021
CFTR204Jan 6, 2022
CFTR-AS126Jan 6, 2022
CHD21Nov 14, 2019
CHRNE1Mar 6, 2020
CLCN51May 28, 2020
COL10A11Aug 30, 2019
COL11A11Jan 14, 2021
COL1A14Jun 3, 2021
COL1A22Jul 30, 2021
COL2A13Jul 30, 2021
COL3A13Jul 30, 2021
COL4A12Jul 30, 2021
COL4A21Aug 4, 2020
COL4A32May 28, 2020
COL4A51May 28, 2020
COL5A11Jan 6, 2022
COL9A21Jun 3, 2021
COL9A31Nov 3, 2020
COPA2Apr 2, 2021
CPLANE12Nov 3, 2020
CR21Mar 6, 2020
CREBBP1Sep 13, 2021
CSF2RA3May 8, 2019
CSF2RB3Jun 7, 2019
CSNK2A11May 28, 2020
CTC16Jul 30, 2021
CTNS1May 4, 2021
DDX3X1May 4, 2021
DDX413Sep 13, 2021
DHCR71May 28, 2020
DIPK1A1Dec 1, 2020
DKC12Apr 1, 2019
DNAAF11Sep 13, 2021
DNAAF41Jun 3, 2021
DNAAF4-CCPG11Jun 3, 2021
DNAAF61Feb 3, 2021
DNAH12Sep 13, 2021
DNAH115Apr 2, 2021
DNAH510Jan 6, 2022
DNAH84Feb 3, 2021
DNAH8-AS11Feb 3, 2021
DNAI11May 4, 2021
DNAJB131Jul 31, 2019
DSP1Oct 13, 2020
DTNA1May 28, 2020
DYNC2H13Jan 14, 2021
DYSF2Aug 4, 2020
EGLN11Apr 2, 2021
EHHADH1Jan 6, 2022
ELANE2Oct 13, 2020
ENG2Apr 2, 2021
ERCC22Jun 3, 2021
ERF2Aug 4, 2020
ETV61Jan 14, 2021
EYA11May 8, 2019
FANCA2Jul 30, 2021
FANCE1Sep 2, 2020
FAT21May 28, 2020
FBN16Jul 30, 2021
FBXO111Aug 4, 2020
FGA2Mar 6, 2020
FGFR11May 4, 2021
FGFR23Aug 4, 2020
FGFR31May 8, 2019
FIG41Aug 4, 2020
FLCN2Sep 13, 2021
FLG4Nov 3, 2020
FLI11Dec 1, 2020
FLNA5Jan 6, 2022
FLNB2Nov 3, 2020
FN13Dec 1, 2020
FOXF110Feb 3, 2021
FREM23Nov 3, 2020
G6PD1Jan 6, 2022
GAA2May 28, 2020
GABRD1Oct 13, 2020
GALK11May 28, 2020
GANAB1Jul 30, 2021
GATA24Jul 30, 2021
GATA31Aug 4, 2020
GATA51Sep 2, 2020
GATAD2B1Nov 14, 2019
GBA2Nov 3, 2020
GDF11Aug 4, 2020
GFI1B1Apr 2, 2021
GJB21Oct 13, 2020
GLI22Oct 13, 2020
GLI31Jul 30, 2021
GNAS12Jun 3, 2021
GP1BA1Sep 13, 2021
GPNMB1Nov 3, 2020
GTPBP32Aug 30, 2019
HMBS1Nov 14, 2019
HPS13Jan 6, 2022
HPS43Apr 2, 2021
HTRA11May 28, 2020
HYDIN3Jan 6, 2022
IDUA2May 28, 2020
IKZF11Aug 4, 2020
IL6R1Apr 2, 2021
INAVA1Aug 4, 2020
INSL62Jul 30, 2021
IQCE1Aug 4, 2020
ITGB43Oct 13, 2020
JAK22Jul 30, 2021
KAT6A1Apr 2, 2021
KCNJ12Oct 13, 2020
KCNQ11May 28, 2020
KDM5B2Dec 5, 2019
KDM5C1Nov 14, 2019
KIAA05861May 28, 2020
KMT2C1Mar 6, 2020
KMT2D3May 28, 2020
LBR1Aug 30, 2019
LDLR1Jun 3, 2021
LIMS21Jun 3, 2021
LMNA2Jun 3, 2021
LMX1B1May 28, 2020
LOC1066279812Nov 3, 2020
LOC1067808031May 8, 2019
LOC1073033403Jul 30, 2021
LOC1079850331Sep 13, 2021
LOC1108062631Aug 4, 2020
LOC1108063061Mar 5, 2019
LOC1116744631May 28, 2020
LOC1116744671Sep 13, 2021
LOC11167447222Jan 6, 2022
LOC1116744757Jan 6, 2022
LOC1116744773Mar 6, 2020
LOC1136641062Mar 6, 2020
LRBA2Jun 3, 2021
LRP21Feb 3, 2021
LRP41Jun 3, 2021
LRP52Nov 3, 2020
LYST1Sep 2, 2020
MAP3K71Jan 14, 2021
MARS13Sep 13, 2021
MATN31Apr 2, 2021
MECP21Aug 4, 2020
MED131Feb 3, 2021
MEFV1Jan 14, 2021
MEN11May 28, 2020
MFF-DT2May 28, 2020
MLH11Sep 13, 2021
MSH21Jul 30, 2021
MSH31Aug 4, 2020
MSH61May 28, 2020
MT-TL11Jan 6, 2022
MTMR141Mar 5, 2019
MYH31May 28, 2020
MYH73Jun 3, 2021
MYH94Jan 6, 2022
MYO3A1May 28, 2020
MYO5B1May 28, 2020
NBEAL21Jul 30, 2021
NDUFB111Jul 31, 2019
NF16Sep 13, 2021
NFIX1May 28, 2020
NFKB21May 28, 2020
NKX2-17Mar 6, 2020
NKX2-1-AS11May 8, 2019
NOTCH12Apr 2, 2021
NOTCH21Jul 30, 2021
NPHP11Oct 13, 2020
NPHP32Aug 30, 2019
NPHP3-ACAD112Aug 30, 2019
NPHS22Apr 2, 2021
NR3C21Mar 6, 2020
NRIP12Jan 14, 2021
NSD12May 28, 2020
NT5DC11Aug 30, 2019
OCRL1Jul 30, 2021
ODAD11Jul 31, 2019
ODAD31Oct 13, 2020
OFD11Jan 14, 2021
PAK11Jul 30, 2021
PALB22Jan 6, 2022
PARN4Jul 30, 2021
PAX21Jan 6, 2022
PEX12May 8, 2019
PEX64May 28, 2020
PIBF12Feb 3, 2021
PIGN2Jul 30, 2021
PIK3CA1Apr 2, 2021
PKD19May 4, 2021
PKD1L12Jun 3, 2021
PKD1L1-AS11Apr 2, 2021
PKD21May 4, 2021
PKHD13Apr 2, 2021
PKLR1Dec 5, 2019
PKP21Jul 31, 2019
PLA2G62May 28, 2020
PLOD22Oct 13, 2020
PMM21May 28, 2020
PMP21Apr 2, 2021
PODXL1May 4, 2021
POLG1May 8, 2019
POLR1C1Oct 13, 2020
PPP1R12A3Oct 13, 2020
PRKAR1A1Jan 14, 2021
PRKCH1Aug 4, 2020
PSEN11May 28, 2020
PTEN1May 8, 2019
PXDN1Aug 4, 2020
RASA12Jul 30, 2021
RB11Jul 30, 2021
RBM201May 28, 2020
RFWD33Jul 30, 2021
RPL101Aug 4, 2020
RPL51Dec 1, 2020
RPS192Sep 2, 2020
RPS261Aug 30, 2019
RSPH91Oct 13, 2020
RTEL113Jan 6, 2022
RTEL1-TNFRSF6B13Jan 6, 2022
RUNX14May 4, 2021
RYR11May 28, 2020
RYR21Aug 4, 2020
SALL12May 28, 2020
SAMD91Oct 13, 2020
SAMD9L4Jul 30, 2021
SCN2A1Dec 1, 2020
SCN5A2Jun 3, 2021
SCNN1A5Jan 6, 2022
SCNN1B7Jan 6, 2022
SCNN1G5Jan 6, 2022
SDHB1Jun 3, 2021
SETD1A1May 28, 2020
SFTA35Mar 6, 2020
SFTPA11Jul 31, 2019
SFTPA21Jan 31, 2019
SFTPB7Sep 2, 2020
SFTPC9Jan 6, 2022
SH2B31Jan 14, 2021
SHANK31Feb 3, 2021
SKIV2L2May 8, 2019
SLC12A32Jan 6, 2022
SLC1A41Dec 1, 2020
SLC2A11Sep 2, 2020
SLC34A11Nov 3, 2020
SLC36A11May 28, 2020
SLC5A21Jan 14, 2021
SLFN142Jan 6, 2022
SOS12Jun 3, 2021
STAG11Dec 5, 2019
STAT32Jul 30, 2021
STING12Jan 6, 2022
STX111Dec 5, 2019
SUOX1Mar 6, 2020
SYN11Mar 6, 2020
SYNE12Nov 3, 2020
TAP21Jun 3, 2021
TBX181May 4, 2021
TBXT1Sep 13, 2021
TCF201Mar 6, 2020
TCOF15Sep 2, 2020
TCTN21Jan 14, 2021
TERC2Nov 3, 2020
TERT10May 4, 2021
THPO2Sep 13, 2021
TINF21Aug 4, 2020
TM4SF201May 4, 2021
TNFRSF11B1Nov 14, 2019
TNNT21May 28, 2020
TNXB2Jan 6, 2022
TP532Sep 2, 2020
TREX11Jul 31, 2019
TRPV61Mar 6, 2020
TRRAP1May 28, 2020
TSC25Jan 6, 2022
TTC141Feb 3, 2021
TTC21B1Jan 14, 2021
TTN5Apr 2, 2021
TTN-AS12May 28, 2020
TUBA1A2Jan 6, 2022
TUBB11Sep 13, 2021
TWIST11May 28, 2020
UMOD1Feb 3, 2021
USP9X1Jan 6, 2022
VCL1Jan 6, 2022
VHL5Jan 6, 2022
VWF3Jul 30, 2021
WDPCP2Oct 13, 2020
WNK11Oct 13, 2020
WNK41Aug 30, 2019
WNT41Aug 4, 2020
WNT5A1Aug 4, 2020
WRAP532Mar 5, 2019
WT11May 28, 2020
XIAP1Jul 30, 2021
ZCCHC81Mar 6, 2020
ZEB21Jan 6, 2022
ZNF6872Aug 4, 2020

Condition

NameSubmissionsLast Updated
Acrocephalosyndactyly type I1Apr 1, 2019
Acute intermittent porphyria1Nov 14, 2019
Acute myeloid leukemia4May 4, 2021
Adrenoleukodystrophy31Jan 6, 2022
Adult hypophosphatasia1Jun 3, 2021
Aicardi-Goutieres syndrome 11Jul 31, 2019
Aicardi-Goutieres syndrome 61Aug 4, 2020
Aldosterone-producing adenoma with seizures and neurological abnormalities1May 4, 2021
Alstrom syndrome3Apr 2, 2021
Alternating hemiplegia of childhood 21Jun 3, 2021
Alveolar capillary dysplasia with pulmonary venous misalignment10Feb 3, 2021
Alzheimer disease 31May 28, 2020
Amyloidosis, primary localized cutaneous, 31Nov 3, 2020
Anemia, nonspherocytic hemolytic, due to G6PD deficiency1Jan 6, 2022
Anterior segment dysgenesis 71Aug 4, 2020
Aortic valve disease 12Apr 2, 2021
Aplasia cutis congenita1Sep 13, 2021
Arrhythmogenic right ventricular dysplasia 21Aug 4, 2020
Arrhythmogenic right ventricular dysplasia 81Oct 13, 2020
Arrhythmogenic right ventricular dysplasia 91Jul 31, 2019
Arthrogryposis, distal, type 2B31May 28, 2020
Asphyxiating thoracic dystrophy 33Jan 14, 2021
Ataxia-pancytopenia syndrome4Jul 30, 2021
Ataxia-telangiectasia syndrome2May 4, 2021
Atopic dermatitis 21Nov 3, 2020
Atypical hemolytic-uremic syndrome with B factor anomaly1Apr 2, 2021
Atypical hemolytic-uremic syndrome with C3 anomaly1Apr 2, 2021
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly3Jul 30, 2021
Autism spectrum disorder due to AUTS2 deficiency2Feb 3, 2021
Autoimmune interstitial lung disease-arthritis syndrome2Apr 2, 2021
Autosomal dominant Alport syndrome2May 28, 2020
Autosomal dominant Robinow syndrome 11Aug 4, 2020
Autosomal dominant centronuclear myopathy1Mar 5, 2019
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1Oct 13, 2020
Autosomal dominant hypocalcemia 11May 4, 2021
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Apr 2, 2021
Autosomal dominant macrothrombocytopenia TUBB1-related1Sep 13, 2021
Autosomal dominant medullary cystic kidney disease with hyperuricemia1Feb 3, 2021
Autosomal dominant pseudohypoaldosteronism type 11Mar 6, 2020
Autosomal recessive ataxia, Beauce type2Nov 3, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B2Aug 4, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2J3May 28, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2W1Jun 3, 2021
Autosomal recessive nonsyndromic hearing loss 1A1Oct 13, 2020
Autosomal recessive nonsyndromic hearing loss 301May 28, 2020
Autosomal recessive polycystic kidney disease1May 28, 2020
Autosomal recessive pseudohypoaldosteronism type 13Nov 14, 2019
Bardet-Biedl syndrome 152Oct 13, 2020
Bardet-Biedl syndrome 51May 28, 2020
Bartter disease type 22Oct 13, 2020
Benign hereditary chorea1Apr 1, 2019
Biotinidase deficiency2Jul 30, 2021
Bleeding disorder, platelet-type, 211Dec 1, 2020
Brain-lung-thyroid syndrome7Mar 6, 2020
Branchiootic syndrome 11May 8, 2019
Breast-ovarian cancer, familial, susceptibility to, 14Jan 6, 2022
Breast-ovarian cancer, familial, susceptibility to, 23Jun 3, 2021
Bronchiectasis with or without elevated sweat chloride 11Jan 6, 2022
Bronchiectasis with or without elevated sweat chloride 23Jan 6, 2022
Bronchiectasis with or without elevated sweat chloride 34Jan 6, 2022
Bruck syndrome 22Oct 13, 2020
Brugada syndrome 11May 28, 2020
COACH syndrome 11May 28, 2020
Capillary malformation-arteriovenous malformation 12Jul 30, 2021
Cardiomyopathy, familial restrictive, 31May 28, 2020
Cardiospondylocarpofacial syndrome1Jan 14, 2021
Carney complex, type 11Jan 14, 2021
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 21May 28, 2020
Cerebroretinal microangiopathy with calcifications and cysts 16Jul 30, 2021
Charcot-Marie-Tooth disease type 4J1Aug 4, 2020
Charcot-Marie-Tooth disease, demyelinating, type 1G1Apr 2, 2021
Childhood hypophosphatasia2Jan 14, 2021
Childhood onset GLUT1 deficiency syndrome 21Sep 2, 2020
Chédiak-Higashi syndrome1Sep 2, 2020
Ciliary dyskinesia, primary, 36, X-linked1Feb 3, 2021
Ciliary dyskinesia, primary, 372Sep 13, 2021
Colorectal cancer, hereditary nonpolyposis, type 21Sep 13, 2021
Colorectal cancer, hereditary nonpolyposis, type 51May 28, 2020
Combined immunodeficiency due to LRBA deficiency2Jun 3, 2021
Combined oxidative phosphorylation defect type 232Aug 30, 2019
Cone-rod dystrophy 31May 4, 2021
Congenital anomalies of kidney and urinary tract 21May 4, 2021
Congenital anomalies of kidney and urinary tract 32Jan 14, 2021
Congenital heart defects, multiple types, 51Sep 2, 2020
Congenital microvillous atrophy1May 28, 2020
Congenital myasthenic syndrome 4A1Mar 6, 2020
Craniosynostosis 42Aug 4, 2020
Crouzon syndrome1Aug 4, 2020
Cystic fibrosis204Jan 6, 2022
DDX41-related hematologic malignancy predisposition syndrome3Sep 13, 2021
Dent disease type 21Jul 30, 2021
Developmental and epileptic encephalopathy 941Nov 14, 2019
Developmental delay with variable intellectual impairment and behavioral abnormalities1Mar 6, 2020
Dextro-looped transposition of the great arteries 31Aug 4, 2020
Diabetes insipidus, nephrogenic, X-linked1Oct 13, 2020
Diamond-Blackfan anemia 12Sep 2, 2020
Diamond-Blackfan anemia 101Aug 30, 2019
Diamond-Blackfan anemia 61Dec 1, 2020
Dilated cardiomyopathy 1A1May 28, 2020
Dilated cardiomyopathy 1D1May 28, 2020
Dilated cardiomyopathy 1DD1May 28, 2020
Donnai-Barrow syndrome1Feb 3, 2021
Drash syndrome1May 28, 2020
Dyskeratosis congenita, X-linked2Apr 1, 2019
Dyskeratosis congenita, autosomal dominant 27Aug 4, 2020
Dyskeratosis congenita, autosomal dominant 31Aug 4, 2020
Dyskeratosis congenita, autosomal dominant 62Jan 14, 2021
Dyskeratosis congenita, autosomal recessive 32Mar 5, 2019
Ehlers-Danlos syndrome due to tenascin-X deficiency1May 8, 2019
Ehlers-Danlos syndrome, classic type, 11Jan 6, 2022
Ehlers-Danlos syndrome, periodontal type 11May 4, 2021
Ehlers-Danlos syndrome, periodontal type 21Jul 30, 2021
Ehlers-Danlos syndrome, type 42Jan 14, 2021
Epilepsy, early-onset, with or without developmental delay1May 28, 2020
Epilepsy, idiopathic generalized, susceptibility to, 101Oct 13, 2020
Epiphyseal dysplasia, multiple, 31Nov 3, 2020
Episodic ataxia type 21Oct 13, 2020
Erythrocytosis, familial, 31Apr 2, 2021
Familial Mediterranean fever1Jan 14, 2021
Familial adenomatous polyposis 11Nov 3, 2020
Familial adenomatous polyposis 41Aug 4, 2020
Familial cancer of breast2Jan 6, 2022
Familial hemophagocytic lymphohistiocytosis 41Dec 5, 2019
Familial hypokalemia-hypomagnesemia2Jan 6, 2022
Familial renal glucosuria1Jan 14, 2021
Familial spontaneous pneumothorax1Sep 13, 2021
Familial visceral amyloidosis, Ostertag type2Mar 6, 2020
Fanconi anemia complementation group A2Jul 30, 2021
Fanconi anemia complementation group E1Sep 2, 2020
Fanconi anemia, complementation group W3Jul 30, 2021
Fanconi renotubular syndrome 21Nov 3, 2020
Fanconi renotubular syndrome 31Jan 6, 2022
Focal segmental glomerulosclerosis 71Jan 6, 2022
Focal segmental glomerulosclerosis 81Aug 30, 2019
Fraser syndrome 23Nov 3, 2020
Frasier syndrome1May 28, 2020
Freeman-Sheldon syndrome1May 28, 2020
Gaucher disease type I2Nov 3, 2020
Gaucher disease type II1May 28, 2020
Gaucher disease type III1May 28, 2020
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1May 28, 2020
Genitourinary and/or brain malformation syndrome3Oct 13, 2020
Glomerulopathy with fibronectin deposits 23Dec 1, 2020
Glycogen storage disease, type II2May 28, 2020
Gray platelet syndrome1Jul 30, 2021
Greig cephalopolysyndactyly syndrome1Jul 30, 2021
Hearing loss, autosomal dominant 751May 28, 2020
Hermansky-Pudlak syndrome 13Jan 6, 2022
Hermansky-Pudlak syndrome 24May 8, 2019
Hermansky-Pudlak syndrome 43Apr 2, 2021
Heterotaxy, visceral, 8, autosomal2Jun 3, 2021
Holoprosencephaly 91May 28, 2020
Hurler syndrome2May 28, 2020
Hyper-IgE recurrent infection syndrome 5, autosomal recessive1Apr 2, 2021
Hypercholesterolemia, autosomal dominant, type B1May 4, 2021
Hypercholesterolemia, familial, 11Jun 3, 2021
Hyperparathyroidism, transient neonatal1Mar 6, 2020
Hyperphosphatasemia with bone disease1Nov 14, 2019
Hypertrophic cardiomyopathy 12Apr 2, 2021
Hypertrophic cardiomyopathy 151Jan 6, 2022
Hypertrophic cardiomyopathy 21May 28, 2020
Hypokalemic periodic paralysis, type 11Nov 3, 2020
Hypoparathyroidism, deafness, renal disease syndrome1Aug 4, 2020
Ichthyosis vulgaris3Oct 13, 2020
Idiopathic Pulmonary Fibrosis1Jan 31, 2019
Idiopathic pulmonary arterial hypertension1Sep 13, 2021
Immunodeficiency, common variable, 101May 28, 2020
Immunodeficiency, common variable, 71Mar 6, 2020
Inflammatory bowel disease 291Aug 4, 2020
Intellectual developmental disorder 611Feb 3, 2021
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Aug 4, 2020
Intellectual developmental disorder with macrocephaly, seizures, and speech delay1Jul 30, 2021
Intellectual disability, X-linked 1021May 4, 2021
Intellectual disability, X-linked 991Jan 6, 2022
Intellectual disability, X-linked, syndromic, 351Aug 4, 2020
Intellectual disability, autosomal dominant 31Dec 5, 2019
Intellectual disability, autosomal dominant 471Dec 5, 2019
Intellectual disability, autosomal recessive 652Dec 5, 2019
Intellectual disability, autosomal recessive 662Aug 4, 2020
Interstitial lung disease due to ABCA3 deficiency51Jan 6, 2022
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked1Jan 6, 2022
Ischemic stroke, susceptibility to1Aug 4, 2020
Isolated hyperchlorhidrosis1Nov 14, 2019
Isolated sulfite oxidase deficiency1Mar 6, 2020
Joubert syndrome 172Nov 3, 2020
Joubert syndrome 231May 28, 2020
Joubert syndrome 241Jan 14, 2021
Joubert syndrome 332Feb 3, 2021
Joubert syndrome 91May 28, 2020
Joubert syndrome with renal defect1Oct 13, 2020
Junctional epidermolysis bullosa with pyloric atresia3Oct 13, 2020
Juvenile myelomonocytic leukemia1Sep 13, 2021
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1Jan 6, 2022
Kabuki syndrome 13May 28, 2020
Kartagener syndrome1May 4, 2021
Kleefstra syndrome 21Mar 6, 2020
Left ventricular noncompaction 11May 28, 2020
Li-Fraumeni syndrome 12Sep 2, 2020
Liddle syndrome 14May 28, 2020
Lissencephaly due to TUBA1A mutation2Jan 6, 2022
Long QT syndrome 11May 28, 2020
Lynch syndrome 11Jul 30, 2021
MHC class I deficiency1Jun 3, 2021
MIRAGE syndrome1Oct 13, 2020
Macrocephaly-autism syndrome1May 8, 2019
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss4Jan 6, 2022
Malan overgrowth syndrome1May 28, 2020
Malignant hyperthermia, susceptibility to, 11May 28, 2020
Marfan syndrome5Jan 14, 2021
Marshall-Smith syndrome1May 28, 2020
Meckel syndrome, type 61May 28, 2020
Megalencephaly-capillary malformation-polymicrogyria syndrome1Apr 2, 2021
Metaphyseal chondrodysplasia, Schmid type1Aug 30, 2019
Microcephaly 16, primary, autosomal recessive1Mar 6, 2020
Microcephaly 5, primary, autosomal recessive1Feb 3, 2021
Mitochondrial complex 1 deficiency, nuclear type 301Jul 31, 2019
Monocytopenia with susceptibility to infections2Dec 5, 2019
Mowat-Wilson syndrome1Jan 6, 2022
Mullerian aplasia and hyperandrogenism1Aug 4, 2020
Multiple congenital anomalies-hypotonia-seizures syndrome 12Jul 30, 2021
Multiple endocrine neoplasia, type 11May 28, 2020
Multiple epiphyseal dysplasia type 51Apr 2, 2021
Multiple fibrofolliculomas1Nov 14, 2019
Myopathy, myofibrillar, 9, with early respiratory failure2Apr 2, 2021
NPHP3-related Meckel-like syndrome2Aug 30, 2019
Nail-patella syndrome1May 28, 2020
Neonatal acute respiratory distress due to SP-B deficiency7Sep 2, 2020
Nephronophthisis 121Jan 14, 2021
Nephronophthisis 152Sep 13, 2021
Nephropathic cystinosis1May 4, 2021
Nephrotic syndrome, type 22Apr 2, 2021
Nephrotic syndrome, type 41May 28, 2020
Neural tube defect1Sep 13, 2021
Neurodegeneration with brain iron accumulation 2B2May 28, 2020
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies1Jul 31, 2019
Neurofibromatosis, type 16Sep 13, 2021
Neutropenia, severe congenital, 1, autosomal dominant2Oct 13, 2020
Noonan syndrome 42Jun 3, 2021
Okur-Chung neurodevelopmental syndrome1May 28, 2020
Osteogenesis imperfecta type I2Aug 4, 2020
Osteogenesis imperfecta type III1May 28, 2020
Osteogenesis imperfecta with normal sclerae, dominant form2Jul 30, 2021
Osteogenesis imperfecta, recessive perinatal lethal1Nov 3, 2020
PMM2-CDG1May 28, 2020
Paget disease of bone 62Aug 4, 2020
Pancytopenia due to IKZF1 mutations1Aug 4, 2020
Paragangliomas 41Jun 3, 2021
Pelger-Huët anomaly1Aug 30, 2019
Peroxisome biogenesis disorder 1A (Zellweger)2May 8, 2019
Peroxisome biogenesis disorder 4A (Zellweger)4May 28, 2020
Pfeiffer syndrome1Aug 30, 2019
Phelan-McDermid syndrome1Feb 3, 2021
Platelet-type bleeding disorder 171Apr 2, 2021
Platelet-type bleeding disorder 202Jan 6, 2022
Polycystic kidney disease 21May 4, 2021
Polycystic kidney disease 3 with or without polycystic liver disease1Jul 30, 2021
Polycystic kidney disease 42Apr 2, 2021
Polycystic kidney disease, adult type9May 4, 2021
Polycystic liver disease 4 with or without kidney cysts2Nov 3, 2020
Polydactyly, postaxial, type a71Aug 4, 2020
Polyglandular autoimmune syndrome, type 11Sep 2, 2020
Porencephaly 21Aug 4, 2020
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome2Oct 13, 2020
Primary ciliary dyskinesia 121Oct 13, 2020
Primary ciliary dyskinesia 131Sep 13, 2021
Primary ciliary dyskinesia 142Feb 3, 2021
Primary ciliary dyskinesia 153Apr 2, 2021
Primary ciliary dyskinesia 201Jul 31, 2019
Primary ciliary dyskinesia 251Jun 3, 2021
Primary ciliary dyskinesia 261Jul 30, 2021
Primary ciliary dyskinesia 271Jan 6, 2022
Primary ciliary dyskinesia 310Jan 6, 2022
Primary ciliary dyskinesia 301Oct 13, 2020
Primary ciliary dyskinesia 341Jul 31, 2019
Primary ciliary dyskinesia 53Jan 6, 2022
Primary ciliary dyskinesia 75Apr 2, 2021
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 11May 8, 2019
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1May 28, 2020
Pseudo von Willebrand disease1Sep 13, 2021
Pseudohypoaldosteronism type 2B1Aug 30, 2019
Pseudohypoaldosteronism type 2C1Oct 13, 2020
Pseudohypoparathyroidism8Oct 13, 2020
Pseudohypoparathyroidism type 1B1Jan 31, 2019
Pseudopseudohypoparathyroidism1Oct 13, 2020
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 13May 4, 2021
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 22Nov 3, 2020
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 313Jan 6, 2022
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 44Jul 30, 2021
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51Mar 6, 2020
Pulmonary venoocclusive disease 1, autosomal dominant1Nov 3, 2020
Pyruvate kinase deficiency of red cells1Dec 5, 2019
Renal dysplasia, cystic, susceptibility to2Jan 14, 2021
Respiratory distress associated with prematurity1Jul 31, 2019
Retinoblastoma1Jul 30, 2021
Rett syndrome1Aug 4, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations1Sep 13, 2021
STAT3-related early-onset multisystem autoimmune disease1Aug 4, 2020
STING-associated vasculopathy with onset in infancy2Jan 6, 2022
Saethre-Chotzen syndrome1May 28, 2020
Seizures, benign familial infantile, 31Dec 1, 2020
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2May 28, 2020
Severe early-childhood-onset retinal dystrophy2May 28, 2020
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency3Sep 13, 2021
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1Nov 14, 2019
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Apr 2, 2021
Short-rib thoracic dysplasia 14 with polydactyly1May 28, 2020
Simpson-Golabi-Behmel syndrome type 21Jan 14, 2021
Smith-Lemli-Opitz syndrome1May 28, 2020
Sotos syndrome 12May 28, 2020
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome1Dec 1, 2020
Specific language impairment 51May 4, 2021
Spermatogenic failure 464Feb 3, 2021
Spinocerebellar ataxia 451May 28, 2020
Spinocerebellar ataxia type 421Aug 4, 2020
Spondylocarpotarsal synostosis syndrome2Nov 3, 2020
Spondyloepiphyseal dysplasia congenita1Aug 4, 2020
Stickler syndrome type 12Jul 30, 2021
Stickler syndrome type 21Jan 14, 2021
Stickler syndrome, type 51Jun 3, 2021
Surfactant metabolism dysfunction, pulmonary, 29Jan 6, 2022
Surfactant metabolism dysfunction, pulmonary, 43May 8, 2019
Surfactant metabolism dysfunction, pulmonary, 53Jun 7, 2019
Syndromic X-linked intellectual disability Claes-Jensen type1Nov 14, 2019
TWIST1-related craniosynostosis1May 28, 2020
Telangiectasia, hereditary hemorrhagic, type 12Apr 2, 2021
Thanatophoric dysplasia type 11May 8, 2019
Thrombocythemia 11Jul 30, 2021
Thrombocythemia 31May 28, 2020
Thrombocytopenia1Sep 13, 2021
Thrombocytopenia 21Jul 30, 2021
Thrombocytopenia 51Jan 14, 2021
Townes-Brocks syndrome 12May 28, 2020
Treacher-Collins syndrome 15Sep 2, 2020
Trichohepatoenteric syndrome 22May 8, 2019
Tuberous sclerosis 25Jan 6, 2022
Usher syndrome type 1D2Jan 6, 2022
Vasculitis due to ADA2 deficiency3Jan 14, 2021
Vesicoureteral reflux 81Jan 6, 2022
Visceral myopathy1Jan 14, 2021
Von Hippel-Lindau syndrome5Jan 6, 2022
Wilms tumor 11May 28, 2020
Wilson disease1Jan 6, 2022
X-linked Alport syndrome1May 28, 2020
X-linked epilepsy-learning disabilities-behavior disorders syndrome1Mar 6, 2020
X-linked lymphoproliferative disease due to XIAP deficiency1Jul 30, 2021
Xeroderma pigmentosum, group D2Jun 3, 2021
not provided26Jul 30, 2021
von Willebrand disease type 22Sep 2, 2020
Support Center