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: 114

Gene

GeneSubmissionsLast Updated
ABCA312Jul 31, 2019
ABCD112Jul 31, 2019
ADA21May 8, 2019
AP3B14May 8, 2019
ATRIP1Jul 31, 2019
ATRIP-TREX11Jul 31, 2019
BPTF1Jul 31, 2019
CFTR17May 8, 2019
CFTR-AS13Mar 5, 2019
CSF2RA3May 8, 2019
CSF2RB2May 8, 2019
CTC12Mar 5, 2019
DKC12Apr 1, 2019
EYA11May 8, 2019
FGFR21Apr 1, 2019
FGFR31May 8, 2019
FOXF13Jul 31, 2019
GNAS4Jul 31, 2019
HPS12Mar 5, 2019
HPS41Apr 1, 2019
KMT2D1Jan 31, 2019
LOC1067808031May 8, 2019
LOC1108063061Mar 5, 2019
LOC1116744721May 8, 2019
LOC1116744751May 8, 2019
MTMR141Mar 5, 2019
NDUFB111Jul 31, 2019
NKX2-15Jul 31, 2019
NKX2-1-AS11May 8, 2019
NSD11Jan 31, 2019
PEX12May 8, 2019
POLG1May 8, 2019
PTEN1May 8, 2019
SCNN1B1Apr 1, 2019
SFTA33Jul 31, 2019
SFTPA21Jan 31, 2019
SFTPB1Mar 5, 2019
SKIV2L2May 8, 2019
TERC1Mar 5, 2019
TERT3May 8, 2019
TNXB1May 8, 2019
TREX11Jul 31, 2019
TUBA1A1Jul 31, 2019
WRAP532Mar 5, 2019

Condition

NameSubmissionsLast Updated
Acrocephalosyndactyly type I1Apr 1, 2019
Adrenoleukodystrophy17Jul 31, 2019
Aicardi Goutieres syndrome 11Jul 31, 2019
Arrhythmogenic right ventricular cardiomyopathy, type 91Jul 31, 2019
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 11May 8, 2019
Benign hereditary chorea1Apr 1, 2019
Branchiootic syndrome1May 8, 2019
Cerebroretinal microangiopathy with calcifications and cysts 12Mar 5, 2019
Choreoathetosis, hypothyroidism, and neonatal respiratory distress5Jul 31, 2019
Ciliary dyskinesia, primary, 201Jul 31, 2019
Ciliary dyskinesia, primary, 341Jul 31, 2019
Ciliary dyskinesia, primary, 51Jul 31, 2019
Cystic fibrosis18Jul 31, 2019
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency1Jul 31, 2019
Dyskeratosis congenita X-linked2Apr 1, 2019
Dyskeratosis congenita, autosomal dominant, 23May 8, 2019
Dyskeratosis congenita, autosomal recessive, 32Mar 5, 2019
Ehlers-Danlos-like syndrome due to tenascin-X deficiency1May 8, 2019
Hermansky Pudlak syndrome 24May 8, 2019
Hermansky-Pudlak syndrome 12Mar 5, 2019
Hermansky-Pudlak syndrome 41Apr 1, 2019
Idiopathic fibrosing alveolitis, chronic form1Jan 31, 2019
Kabuki syndrome 11Jan 31, 2019
Lissencephaly 31Jul 31, 2019
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 301Jul 31, 2019
Macrocephaly/autism syndrome1May 8, 2019
Myelocerebellar disorder1Jul 31, 2019
Myopathy, centronuclear, 11Mar 5, 2019
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES1Jul 31, 2019
Peroxisome biogenesis disorder 1A (Zellweger)2May 8, 2019
Persistent fetal circulation4Jul 31, 2019
Polyarteritis nodosa, childhoood-onset1May 8, 2019
Pseudohypoaldosteronism type 1 autosomal recessive1Jul 31, 2019
Pseudohypoparathyroidism4Jul 31, 2019
Pseudohypoparathyroidism type 1B1Jan 31, 2019
Pseudoprimary hyperaldosteronism1Apr 1, 2019
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 21Mar 5, 2019
Respiratory distress associated with prematurity1Jul 31, 2019
Sotos syndrome 11Jan 31, 2019
Surfactant metabolism dysfunction, pulmonary, 11Mar 5, 2019
Surfactant metabolism dysfunction, pulmonary, 313Jul 31, 2019
Surfactant metabolism dysfunction, pulmonary, 43May 8, 2019
Surfactant metabolism dysfunction, pulmonary, 52May 8, 2019
Thanatophoric dysplasia type 11May 8, 2019
Treacher Collins syndrome 11Jul 31, 2019
Trichohepatoenteric syndrome 22May 8, 2019
Support Center