Baylor-Hopkins Center for Mendelian Genomics (Johns Hopkins University)

Summary of submissions to ClinVar

Total submissions: 180

Gene

GeneSubmissionsLast Updated
ACTG11Apr 26, 2019
ALMS15Sep 15, 2015
ASIC4-AS11Nov 15, 2017
BSND2May 20, 2019
CA122May 12, 2020
CABP21Apr 26, 2019
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
HNRNPK1Mar 28, 2016
ITPR11Sep 22, 2017
JUP1May 25, 2020
KMT2A2Jul 12, 2017
KMT2B1Jul 12, 2017
KMT2D13May 20, 2019
KRAS1Mar 6, 2020
LBR4May 12, 2020
LZTR14May 20, 2019
MBTPS11Feb 17, 2020
MSRB31Apr 26, 2019
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
VPS33B1May 25, 2020
VPS37A1Mar 30, 2018
ZBTB241Jul 12, 2017
ZDBF21Mar 16, 2017
ZNF4071Aug 13, 2019

Condition

NameSubmissionsLast Updated
AU-KLINE SYNDROME1Mar 28, 2016
Acute erythroleukemia, familial1Aug 19, 2016
Acute myeloid leukemia1Mar 16, 2017
Alacrima, achalasia, and mental retardation syndrome1Nov 15, 2017
Alstrom syndrome5Sep 15, 2015
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia2Sep 15, 2015
Arrhythmogenic right ventricular cardiomyopathy, type 121May 25, 2020
Arrhythmogenic right ventricular dysplasia, familial 16May 20, 2019
Arthrogryposis, renal dysfunction, and cholestasis 11May 25, 2020
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1May 12, 2020
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 association1Apr 26, 2019
Carpenter syndrome 11Apr 26, 2019
Cholestanol storage disease1Nov 15, 2017
Coffin-Lowry syndrome1May 12, 2020
Coloboma of optic nerve (disease)1Apr 26, 2019
Combined oxidative phosphorylation deficiency 132Mar 16, 2017
Congenital disorder of glycosylation type 1t1Mar 3, 2020
Cornelia de Lange syndrome 11Apr 26, 2019
Cornelia de Lange syndrome 31Apr 26, 2019
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)1Apr 26, 2019
Deafness, autosomal dominant 112Apr 26, 2019
Deafness, autosomal dominant 201Apr 26, 2019
Deafness, autosomal dominant 3a2May 20, 2019
Deafness, autosomal dominant 41Apr 26, 2019
Deafness, autosomal recessive 1A2May 20, 2019
Deafness, autosomal recessive 221Apr 26, 2019
Deafness, autosomal recessive 241Apr 26, 2019
Deafness, autosomal recessive 351Apr 26, 2019
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct3May 20, 2019
Deafness, autosomal recessive 72May 20, 2019
Deafness, autosomal recessive 741Apr 26, 2019
Deafness, autosomal recessive 95May 20, 2019
Deafness, autosomal recessive 931Apr 26, 2019
Dilatation of ascending aorta12Jan 22, 2019
Dilated cardiomyopathy 1DD2May 20, 2019
Dilated cardiomyopathy 1S1May 25, 2020
Epidermal nevus syndrome1Mar 6, 2020
Episodic kinesigenic dyskinesia 11Oct 10, 2017
Familial Isolated Pituitary Adenomas1Mar 6, 2020
Familial acne inversa 11Mar 28, 2016
Familial advanced sleep phase syndrome 12May 20, 2019
Familial isolated arrhythmogenic right ventricular dysplasia6Mar 16, 2017
Gillespie syndrome1Sep 22, 2017
Greenberg dysplasia2May 12, 2020
Hyperchlorhidrosis, isolated2May 12, 2020
Idiopathic transverse myelitis1Mar 30, 2018
Inflammatory bowel disease 13May 20, 2019
Kabuki syndrome 119May 20, 2019
Laron-type isolated somatotropin defect1Mar 6, 2020
Lateral meningocele syndrome5Mar 28, 2016
Left ventricular noncompaction 101May 25, 2020
Leukodystrophy, hypomyelinating, 93Nov 15, 2017
Limb-girdle muscular dystrophy, type 1E1May 12, 2020
Loeys-Dietz syndrome 48Sep 15, 2015
Marfan syndrome1May 25, 2020
Mental retardation, X-linked, syndromic 331Apr 26, 2019
Microphthalmia, isolated, with coloboma 91Apr 26, 2019
Multiple exostoses type 21May 25, 2020
Myelodysplasia1Mar 16, 2017
Nasopalpebral lipoma-coloboma syndrome1Mar 16, 2017
Nonsyndromic hearing loss and deafness1Apr 7, 2020
Osteogenesis imperfecta, type VI1Mar 28, 2016
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
Sotos syndrome 21May 25, 2020
Spondyloepiphyseal dysplasia, kondo-fu type1Feb 17, 2020
Spondyloepiphyseal dysplasia, stanescu type1Mar 28, 2016
Spondylometaphyseal dysplasia - Sutcliffe type1Apr 26, 2019
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome8Sep 15, 2015
Tyrosinase-negative oculocutaneous albinism1May 20, 2019
Tyrosinase-positive oculocutaneous albinism3May 20, 2019
Ullrich congenital muscular dystrophy 11May 25, 2020
Usher syndrome, type 2A2Mar 6, 2020
You-Hoover-Fong syndrome6Aug 19, 2016
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