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Baylor-Hopkins Center for Mendelian Genomics (Johns Hopkins University), BHCMG-JH

General information

Baylor-Hopkins Center for Mendelian Genomics, BHCMG-JH
Johns Hopkins University
733 N. Broadway, MRB Bldg, Rm 512
Baltimore
Maryland
United States - 21205

Organization ID: 505755

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 201

Gene

GeneSubmissionsLast Updated
ACTG11Apr 26, 2019
ALMS15Sep 15, 2015
ASIC4-AS11Nov 15, 2017
BSND2May 20, 2019
CA122May 12, 2020
CABP21Apr 26, 2019
CDKN2A2Nov 28, 2022
CHD71Apr 26, 2019
CLDN91Apr 7, 2020
COL2A11Mar 28, 2016
COL6A11May 25, 2020
CYP27A11Nov 15, 2017
DDX411Mar 16, 2017
DNAJB61May 12, 2020
DNMT3B1Jul 12, 2017
ELP41Apr 26, 2019
ERBB31Aug 19, 2016
ESRRB1Apr 26, 2019
EXT21May 25, 2020
FBN11May 25, 2020
FGF31Apr 26, 2019
FN11Apr 26, 2019
GHR1Mar 6, 2020
GJB24May 20, 2019
GMPPA1Nov 15, 2017
GNAI21Mar 6, 2020
HCFC11Jul 12, 2017
HIF1A7Nov 28, 2022
HIF1A-AS37Nov 28, 2022
HNRNPK1Mar 28, 2016
HNRNPK-AS11Mar 28, 2016
IDH12Nov 28, 2022
IDH22Nov 28, 2022
ITPR11Sep 22, 2017
JUP1May 25, 2020
KDM4C3Nov 28, 2022
KMT2A2Jul 12, 2017
KMT2B1Jul 12, 2017
KMT2D13May 20, 2019
KRAS1Mar 6, 2020
LBR4May 12, 2020
LOC1073033402Nov 28, 2022
LOC1268069322Sep 15, 2015
LOC1268618981May 25, 2020
LZTR14May 20, 2019
MBTPS11Feb 17, 2020
MSRB31Apr 26, 2019
MVP-DT1Oct 10, 2017
MYBPC31May 25, 2020
MYH141Apr 26, 2019
MYH71May 25, 2020
MYO7A2Apr 26, 2019
NCSTN1Mar 28, 2016
NFIX1May 25, 2020
NHLH11Mar 28, 2016
NIPBL1Apr 26, 2019
NOD23May 20, 2019
NOTCH35Mar 28, 2016
OCA23May 20, 2019
OTOA1Apr 26, 2019
OTOF4May 20, 2019
PAX61Apr 26, 2019
PCYT1A8Sep 15, 2015
PER22May 20, 2019
PGM11Mar 3, 2020
PIEZO21May 12, 2020
PLEC6May 20, 2019
PNPT12Mar 16, 2017
PRRT21Oct 10, 2017
RAB231Apr 26, 2019
RARS13Nov 15, 2017
RBM202May 20, 2019
RDX1Apr 26, 2019
ROBO412Jan 22, 2019
RPS6KA31May 12, 2020
SCN5A6Mar 16, 2017
SERPINF11Mar 28, 2016
SIX11May 25, 2020
SKI9Sep 15, 2015
SLC26A43May 20, 2019
SMARCB11May 20, 2019
SMC31Apr 26, 2019
SNAP291Mar 28, 2016
STAC31Nov 8, 2017
TAF11Apr 26, 2019
TELO26Aug 19, 2016
TENM31Apr 26, 2019
TGFB28Sep 15, 2015
TMC12May 20, 2019
TYR1May 20, 2019
USH2A2Mar 6, 2020
VHL5Nov 28, 2022
VPS33B1May 25, 2020
VPS37A1Mar 30, 2018
ZBTB241Jul 12, 2017
ZDBF21Mar 16, 2017
ZNF4071Aug 13, 2019

Condition

NameSubmissionsLast Updated
Acne inversa, familial, 11Mar 28, 2016
Acute myeloid leukemia1Mar 16, 2017
Advanced sleep phase syndrome 12May 20, 2019
Alacrima, achalasia, and intellectual disability syndrome1Nov 15, 2017
Alstrom syndrome5Sep 15, 2015
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia2Sep 15, 2015
Arrhythmogenic right ventricular dysplasia 16May 20, 2019
Arrhythmogenic right ventricular dysplasia 121May 25, 2020
Arthrogryposis, renal dysfunction, and cholestasis 11May 25, 2020
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1May 12, 2020
Ascending tubular aorta aneurysm12Jan 22, 2019
Au-Kline syndrome1Mar 28, 2016
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1May 12, 2020
Autosomal dominant nonsyndromic hearing loss 112Apr 26, 2019
Autosomal dominant nonsyndromic hearing loss 201Apr 26, 2019
Autosomal dominant nonsyndromic hearing loss 3A2May 20, 2019
Autosomal dominant nonsyndromic hearing loss 4A1Apr 26, 2019
Autosomal recessive nonsyndromic hearing loss 1A2May 20, 2019
Autosomal recessive nonsyndromic hearing loss 221Apr 26, 2019
Autosomal recessive nonsyndromic hearing loss 241Apr 26, 2019
Autosomal recessive nonsyndromic hearing loss 351Apr 26, 2019
Autosomal recessive nonsyndromic hearing loss 43May 20, 2019
Autosomal recessive nonsyndromic hearing loss 72May 20, 2019
Autosomal recessive nonsyndromic hearing loss 741Apr 26, 2019
Autosomal recessive nonsyndromic hearing loss 95May 20, 2019
Autosomal recessive nonsyndromic hearing loss 931Apr 26, 2019
Bailey-Bloch congenital myopathy1Nov 8, 2017
Bartter disease type 4A2May 20, 2019
Bicuspid aortic valve12Jan 22, 2019
Branchiootic syndrome 31May 25, 2020
CEDNIK syndrome1Mar 28, 2016
CHARGE syndrome1Apr 26, 2019
Cholestanol storage disease1Nov 15, 2017
Coffin-Lowry syndrome1May 12, 2020
Coloboma of optic nerve1Apr 26, 2019
Combined oxidative phosphorylation defect type 132Mar 16, 2017
Cornelia de Lange syndrome 11Apr 26, 2019
Cornelia de Lange syndrome 31Apr 26, 2019
Deafness with labyrinthine aplasia, microtia, and microdontia1Apr 26, 2019
Dilated cardiomyopathy 1DD2May 20, 2019
Dilated cardiomyopathy 1S1May 25, 2020
Enchondromatosis13Nov 28, 2022
Episodic kinesigenic dyskinesia 11Oct 10, 2017
Erythroleukemia, familial, susceptibility to1Aug 19, 2016
Exostoses, multiple, type 21May 25, 2020
Familial isolated arrhythmogenic right ventricular dysplasia6Mar 16, 2017
Familial isolated pituitary adenoma1Mar 6, 2020
Gillespie syndrome1Sep 22, 2017
Greenberg dysplasia2May 12, 2020
Hypomyelinating leukodystrophy 93Nov 15, 2017
Idiopathic transverse myelitis1Mar 30, 2018
Inflammatory bowel disease 13May 20, 2019
Intellectual disability, X-linked, syndromic 331Apr 26, 2019
Isolated hyperchlorhidrosis2May 12, 2020
Kabuki syndrome 119May 20, 2019
Laron-type isolated somatotropin defect1Mar 6, 2020
Lateral meningocele syndrome5Mar 28, 2016
Left ventricular noncompaction 101May 25, 2020
Linear nevus sebaceous syndrome1Mar 6, 2020
Loeys-Dietz syndrome 48Sep 15, 2015
Maffucci syndrome8Nov 28, 2022
Malan overgrowth syndrome1May 25, 2020
Marfan syndrome1May 25, 2020
Microphthalmia, isolated, with coloboma 91Apr 26, 2019
Myelodysplasia1Mar 16, 2017
Nasopalpebral lipoma-coloboma syndrome1Mar 16, 2017
Nonsyndromic genetic hearing loss1Apr 7, 2020
Osteogenesis imperfecta type 61Mar 28, 2016
PGM1-congenital disorder of glycosylation1Mar 3, 2020
RAB23-related Carpenter syndrome1Apr 26, 2019
Radioulnar synostosis-microcephaly-scoliosis syndrome1Aug 13, 2019
Schwannomatosis 11May 20, 2019
Schwannomatosis 24May 20, 2019
Seizures, benign familial infantile, 21Oct 10, 2017
Shprintzen-Goldberg syndrome9Sep 15, 2015
Spondyloepiphyseal dysplasia, Stanescu type1Mar 28, 2016
Spondyloepiphyseal dysplasia, kondo-fu type1Feb 17, 2020
Spondylometaphyseal dysplasia - Sutcliffe type1Apr 26, 2019
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome8Sep 15, 2015
TELO2-related intellectual disability-neurodevelopmental disorder6Aug 19, 2016
Tyrosinase-negative oculocutaneous albinism1May 20, 2019
Tyrosinase-positive oculocutaneous albinism3May 20, 2019
Ullrich congenital muscular dystrophy 1A1May 25, 2020
Usher syndrome type 2A2Mar 6, 2020