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Department of Molecular and Human Genetics (Baylor College of Medicine)

General information

Department of Molecular and Human Genetics
Baylor College of Medicine
Houston
Texas
United States

Organization ID: 505316

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 89

Gene

GeneSubmissionsLast Updated
A2ML19Sep 16, 2015
ACBD51May 20, 2020
ADCY11Sep 16, 2015
ALOXE32Sep 16, 2015
ARSB1May 20, 2020
ATF61Sep 16, 2015
CLCNKB2May 20, 2020
CLN31May 20, 2020
CLPP3Sep 16, 2015
CNTNAP21May 20, 2020
COQ8A1May 20, 2020
CRX1May 20, 2020
DDR21May 20, 2020
DNAH51May 20, 2020
DSE1Jan 17, 2020
ECE11May 20, 2020
ETHE11May 20, 2020
FAM177A11May 20, 2020
FBP11May 20, 2020
FBXL42May 20, 2020
GALC2May 20, 2020
GJB61May 20, 2020
IL7R2May 20, 2020
ITGB41May 20, 2020
ITGB61Sep 16, 2015
KARS12Sep 16, 2015
KRT251Sep 16, 2015
LARGE11May 20, 2020
LOC1065017131May 20, 2020
LOC1300632881Sep 16, 2015
LRBA2May 20, 2020
MCPH12May 20, 2020
MPLKIP1Mar 31, 2016
MTRFR1May 20, 2020
P2RX5-TAX1BP31May 20, 2020
PKHD12May 20, 2020
PLA2G61May 20, 2020
PRDM121May 20, 2020
RMND12May 20, 2020
S1PR21Jan 8, 2016
SERAC11May 20, 2020
SLC35F11Feb 20, 2014
SLCO1B11May 20, 2020
SLCO1B31May 20, 2020
SPTA11May 20, 2020
TANGO23May 20, 2020
TAX1BP32May 20, 2020
TBC1D242Sep 16, 2015
TBCK2May 20, 2020
TGM11Sep 16, 2015
TRAPPC91May 20, 2020
TRIM371May 20, 2020
TSPYL11Jan 17, 2020
VPS13B7May 20, 2020
WWOX1May 20, 2020

Condition

NameSubmissionsLast Updated
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome1May 20, 2020
5p partial monosomy syndrome1May 20, 2020
Achromatopsia 71Sep 16, 2015
Adolescent alopeciam dentogingival abnormalitites and intellectual disability1Sep 16, 2015
Autistic behavior1Feb 20, 2014
Autosomal recessive ataxia due to ubiquinone deficiency1May 20, 2020
Autosomal recessive congenital ichthyosis 11Sep 16, 2015
Autosomal recessive congenital ichthyosis 32Sep 16, 2015
Autosomal recessive hearing impairment with normal menstrual cycles1Sep 16, 2015
Autosomal recessive nonsyndromic hearing loss 1B1May 20, 2020
Autosomal recessive nonsyndromic hearing loss 441Sep 16, 2015
Autosomal recessive nonsyndromic hearing loss 681Jan 8, 2016
Autosomal recessive nonsyndromic hearing loss 862Sep 16, 2015
Autosomal recessive nonsyndromic hearing loss 892Sep 16, 2015
Autosomal recessive polycystic kidney disease2May 20, 2020
Bartter disease type 32May 20, 2020
Cohen syndrome7May 20, 2020
Combined immunodeficiency due to LRBA deficiency2May 20, 2020
Combined oxidative phosphorylation defect type 112May 20, 2020
Combined oxidative phosphorylation defect type 71May 20, 2020
Congenital insensitivity to pain-hypohidrosis syndrome1May 20, 2020
Cortical dysplasia-focal epilepsy syndrome1May 20, 2020
Cystinuria1May 20, 2020
Delayed speech and language development3Feb 20, 2014
Developmental and epileptic encephalopathy, 281May 20, 2020
DiGeorge syndrome1May 20, 2020
Dolichocephaly1May 20, 2020
Dysmorphic features2Feb 20, 2014
Ethylmalonic encephalopathy1May 20, 2020
Fructose-biphosphatase deficiency1May 20, 2020
Galactosylceramide beta-galactosidase deficiency2May 20, 2020
Generalized non-motor (absence) seizure1Feb 20, 2014
Global developmental delay1Feb 20, 2014
Hereditary spherocytosis type 31May 20, 2020
Hirschsprung disease, cardiac defects, and autonomic dysfunction1May 20, 2020
Hypotonia2Feb 20, 2014
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32May 20, 2020
Hypotrichosis 81Sep 16, 2015
Immunodeficiency 1042May 20, 2020
Infantile neuroaxonal dystrophy1May 20, 2020
Intellectual disability4May 20, 2020
Intellectual disability, autosomal recessive 131May 20, 2020
Junctional epidermolysis bullosa with pyloric atresia1May 20, 2020
Leber congenital amaurosis 71May 20, 2020
Macrocephaly1May 20, 2020
Microcephaly1Feb 20, 2014
Microcephaly 1, primary, autosomal recessive2May 20, 2020
Mild obesity1May 20, 2020
Mitochondrial DNA depletion syndrome 132May 20, 2020
Mucopolysaccharidosis type 61May 20, 2020
Mulibrey nanism syndrome1May 20, 2020
Muscular dystrophy-dystroglycanopathy type B61May 20, 2020
Myasthenic syndrome, congenital, 221May 20, 2020
Neuronal ceroid lipofuscinosis 31May 20, 2020
Nonsyndromic otitis media9Sep 16, 2015
Perrault syndrome 32Sep 16, 2015
Primary ciliary dyskinesia 31May 20, 2020
Primary familial dilated cardiomyopathy2May 20, 2020
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome3May 20, 2020
Retinal dystrophy with leukodystrophy1May 20, 2020
Rotor syndrome1May 20, 2020
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome1May 20, 2020
Sudden infant death-dysgenesis of the testes syndrome1Jan 17, 2020
Tremor3Feb 20, 2014
Trichothiodystrophy 4, nonphotosensitive1Mar 31, 2016
generalized epilepsy with atypical absence and tonic/myoclonic seizures1Feb 20, 2014
generalized epilepsy with atypical absence seizures1Feb 20, 2014