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Broad Institute Rare Disease Group (Broad Institute)

General information

Broad Institute Rare Disease Group
Broad Institute
75 Ames St
Cambridge
Massachusetts
United States - 02142-1403
https://cmg.broadinstitute.org/
Organization ID: 506627

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 159

Gene

GeneSubmissionsLast Updated
ACTG21Jun 27, 2018
ADAT31Jun 27, 2018
AGXT1Jun 27, 2018
AHI12Sep 26, 2018
ALDH3A21Jun 27, 2018
ANO55Sep 26, 2018
AP4E11Sep 26, 2018
ARID1A1Sep 26, 2018
ARID1B1Sep 26, 2018
ARX1Sep 26, 2018
ASNS1Sep 26, 2018
ASPM1Sep 26, 2018
ASTN21Sep 26, 2018
ASXL31Sep 26, 2018
ATP5MF-PTCD11Mar 16, 2017
ATPAF21Sep 26, 2018
ATRX2Sep 26, 2018
B3GALNT21Sep 26, 2018
BAG31Sep 26, 2018
BBS11Jul 1, 2017
BBS22Sep 26, 2018
BBS51Sep 26, 2018
BET12Feb 28, 2019
CAPN31Sep 26, 2018
CEP2903Sep 26, 2018
CHD71Jun 27, 2018
CLN61Jul 1, 2017
CNTNAP11Sep 26, 2018
COL4A51Sep 26, 2018
COL6A11Sep 26, 2018
COL6A32Sep 26, 2018
CPLANE13Sep 26, 2018
CRX1Mar 16, 2017
CYP2U11Sep 26, 2018
CZ1P-ASNS1Sep 26, 2018
DNAJB61Sep 26, 2018
DYSF1Sep 26, 2018
EBF31Jun 27, 2018
FAM126A1Sep 26, 2018
FLNC1Jun 27, 2018
GAA1Jul 1, 2017
GALC1Sep 26, 2018
GH-LCR1Mar 16, 2017
GNAO11Sep 26, 2018
GNAS1Sep 26, 2018
HOXB11Sep 26, 2018
HR1Mar 16, 2017
IFIH11Jun 27, 2018
INPP5E1Sep 26, 2018
KIF111Sep 26, 2018
LAMA21Sep 26, 2018
LAMB21Sep 26, 2018
LMNA1Sep 26, 2018
MEFV1Jul 1, 2017
MGAT22Sep 26, 2018
MYH71Jun 27, 2018
NKX2-51Mar 16, 2017
NPHP33Sep 26, 2018
NPHP3-ACAD115Sep 26, 2018
NPHS13Sep 26, 2018
OFD11Jul 1, 2017
PAFAH1B12Jun 27, 2018
PAX21Jul 1, 2017
PCGF21Mar 6, 2019
PHGDH1Sep 26, 2018
PKD12Sep 26, 2018
PKHD12Jun 27, 2018
PLA2G61Sep 26, 2018
PLCB41Sep 26, 2018
PLCE11Sep 26, 2018
PLCE1-AS11Sep 26, 2018
PNPT12Jun 27, 2018
POC1B1Jun 27, 2018
POMT11Jul 1, 2017
POMT21Sep 26, 2018
PPT12Sep 26, 2018
PSAP1Jul 1, 2017
PTCD11Mar 16, 2017
PYCR21Jun 27, 2018
RGS91Sep 26, 2018
RHO1Sep 26, 2018
RPGRIP1L1Sep 26, 2018
RYR13Sep 26, 2018
SCAMP41Jun 27, 2018
SCN4A1Mar 16, 2017
SDCCAG82Sep 26, 2018
SGCA1Jun 27, 2018
SLC19A31Sep 26, 2018
SLC25A41Sep 26, 2018
SLC2A11Sep 26, 2018
SLC39A81Sep 26, 2018
SMAD41Jul 1, 2017
SMARCAL12Jul 1, 2017
SNX141Sep 26, 2018
SPG111Mar 16, 2017
SPR1Sep 26, 2018
SRCAP1Sep 26, 2018
STAC31Sep 26, 2018
SURF11Sep 26, 2018
TAF11Sep 26, 2018
TBCD2Sep 26, 2018
TCTN12Sep 26, 2018
THOC21Sep 26, 2018
TMEM2311Sep 26, 2018
TMEM2372Sep 26, 2018
TMEM674Jul 1, 2017
TP631Jul 1, 2017
TRIM321Sep 26, 2018
TRPM11Sep 26, 2018
TTC21B2Jul 1, 2017
TTC21B-AS11Jul 1, 2017
TTN5Sep 26, 2018
TTN-AS12Jun 27, 2018
TUBA1A2Sep 26, 2018
UBA52Jun 27, 2018
USH2A4Jul 1, 2017
VDR1Sep 26, 2018
VLDLR1Sep 26, 2018
VPS111Sep 26, 2018
VPS13B1Sep 26, 2018
WT11Jul 1, 2017
WWOX1Sep 26, 2018
ZDHHC241Jul 1, 2017

Condition

NameSubmissionsLast Updated
Abnormality of the outer ear1Mar 6, 2019
Adolescent nephronophthisis2Sep 26, 2018
Aicardi-Goutieres syndrome 71Jun 27, 2018
Alport syndrome 1, X-linked recessive1Sep 26, 2018
Asparagine synthetase deficiency1Sep 26, 2018
Auriculocondylar syndrome 21Sep 26, 2018
Autosomal recessive polycystic kidney disease4Sep 26, 2018
Bainbridge-Ropers syndrome1Sep 26, 2018
Bardet-Biedl syndrome1Jul 1, 2017
Bardet-Biedl syndrome 162Sep 26, 2018
Bardet-Biedl syndrome 22Sep 26, 2018
Bardet-Biedl syndrome 51Sep 26, 2018
Biotin-thiamine-responsive basal ganglia disease1Sep 26, 2018
Bradyopsia1Sep 26, 2018
CHARGE association1Jun 27, 2018
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn1Sep 26, 2018
Carbohydrate-deficient glycoprotein syndrome type II2Sep 26, 2018
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 11Sep 26, 2018
Ceroid lipofuscinosis neuronal 11Sep 26, 2018
Ceroid lipofuscinosis neuronal 61Jul 1, 2017
Coffin-Siris syndrome 11Sep 26, 2018
Cohen syndrome1Sep 26, 2018
Combined oxidative phosphorylation deficiency 132Jun 27, 2018
Combined saposin deficiency1Jul 1, 2017
Cone-rod dystrophy 201Jun 27, 2018
Congenital muscular dystrophy, LMNA-related1Sep 26, 2018
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B11Jul 1, 2017
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B21Sep 26, 2018
Congenital stationary night blindness, type 1C1Sep 26, 2018
Diffuse mesangial sclerosis1Jul 1, 2017
Early infantile epileptic encephalopathy 171Sep 26, 2018
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum2Sep 26, 2018
Epileptic encephalopathy, early infantile, 11Sep 26, 2018
Epileptic encephalopathy, early infantile, 281Sep 26, 2018
Epileptic encephalopathy, early infantile, 442Jun 27, 2018
Familial mediterranean fever, autosomal dominant1Jul 1, 2017
Finnish congenital nephrotic syndrome3Sep 26, 2018
Floating-Harbor syndrome1Sep 26, 2018
Focal segmental glomerulosclerosis 71Jul 1, 2017
GLUT1 deficiency syndrome 11Sep 26, 2018
Galactosylceramide beta-galactosidase deficiency1Sep 26, 2018
Glycogen storage disease, type II2Jul 1, 2017
Hereditary congenital facial paresis 31Sep 26, 2018
Hypomyelination and Congenital Cataract1Sep 26, 2018
Infantile neuroaxonal dystrophy1Sep 26, 2018
Intellectual disability1Mar 6, 2019
Joubert syndrome 11Sep 26, 2018
Joubert syndrome 101Jul 1, 2017
Joubert syndrome 132Sep 26, 2018
Joubert syndrome 142Sep 26, 2018
Joubert syndrome 173Sep 26, 2018
Joubert syndrome 32Sep 26, 2018
Joubert syndrome 53Sep 26, 2018
Joubert syndrome 64Jul 1, 2017
Joubert syndrome 71Sep 26, 2018
Leigh syndrome1Sep 26, 2018
Lethal congenital contracture syndrome 71Sep 26, 2018
Leukodystrophy, hypomyelinating, 101Jun 27, 2018
Leukodystrophy, hypomyelinating, 121Sep 26, 2018
Limb-girdle muscular dystrophy, type 1E1Sep 26, 2018
Limb-girdle muscular dystrophy, type 2A1Sep 26, 2018
Limb-girdle muscular dystrophy, type 2B1Sep 26, 2018
Limb-girdle muscular dystrophy, type 2D2Jun 27, 2018
Limb-girdle muscular dystrophy, type 2J3Sep 26, 2018
Limb-girdle muscular dystrophy, type 2L5Sep 26, 2018
Lissencephaly 12Jun 27, 2018
Lissencephaly 31Sep 26, 2018
Meckel syndrome, type 111Sep 26, 2018
Mental retardation, X-linked 121Sep 26, 2018
Mental retardation, X-linked, syndromic 331Sep 26, 2018
Mental retardation, autosomal dominant 141Sep 26, 2018
Mental retardation, autosomal recessive 361Jun 27, 2018
Mental retardation-hypotonic facies syndrome X-linked, 12Sep 26, 2018
Merosin deficient congenital muscular dystrophy1Sep 26, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Sep 26, 2018
Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant1Sep 26, 2018
Muscular dystrophy1Jul 1, 2017
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 111Sep 26, 2018
Myhre syndrome1Jul 1, 2017
Myofibrillar myopathy, BAG3-related1Sep 26, 2018
Myopathy, Central Core3Sep 26, 2018
Myopathy, distal, 11Jun 27, 2018
Myopathy, distal, 41Jun 27, 2018
Myopathy, early-onset, with fatal cardiomyopathy2Jun 27, 2018
Native American myopathy1Sep 26, 2018
Neonatal death2Oct 3, 2019
Nephronophthisis 122Jul 1, 2017
Nephrotic syndrome, type 31Sep 26, 2018
Nephrotic syndrome, type 5, with or without ocular abnormalities1Sep 26, 2018
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 11Sep 26, 2018
Phosphoglycerate dehydrogenase deficiency1Sep 26, 2018
Primary autosomal recessive microcephaly 51Sep 26, 2018
Primary hyperoxaluria, type I1Jun 27, 2018
Progressive muscle weakness2Feb 28, 2019
Pseudopseudohypoparathyroidism1Sep 26, 2018
Renal-hepatic-pancreatic dysplasia1Jul 1, 2017
Retinitis pigmentosa 392Jul 1, 2017
Retinitis pigmentosa 41Sep 26, 2018
Robin sequence1Jun 27, 2018
Sarcotubular myopathy1Sep 26, 2018
Schimke immunoosseous dysplasia2Jul 1, 2017
Seizures2Feb 28, 2019
Sepiapterin reductase deficiency1Sep 26, 2018
Sjögren-Larsson syndrome1Jun 27, 2018
Spastic paraplegia 51, autosomal recessive1Sep 26, 2018
Spastic paraplegia 56, autosomal recessive1Sep 26, 2018
Spinocerebellar ataxia, autosomal recessive 201Sep 26, 2018
Ullrich congenital muscular dystrophy 13Sep 26, 2018
Usher syndrome, type 2A2Jul 1, 2017
Visceral myopathy1Jun 27, 2018
Vitamin D-dependent rickets, type 21Sep 26, 2018
not specified7Mar 16, 2017
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