Geisinger Autism and Developmental Medicine Institute (Geisinger Health System)

General information

Geisinger Autism and Developmental Medicine Institute
Geisinger Health System
120 Hamm Drive, Ste 2A
Lewisburg
Pennsylvania
United States - 17837
http://geisingeradmi.org/
Organization ID: 506174

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 303

Gene

GeneSubmissionsLast Updated
AGO11Mar 27, 2018
ANKLE21Mar 27, 2018
ARCN11Mar 27, 2018
ARSD1Mar 27, 2018
ARVCF1Mar 27, 2018
ASPM2Mar 27, 2018
ASXL31Mar 27, 2018
ATP1A21Mar 27, 2018
ATP6V0A11Mar 27, 2018
ATRX1Mar 27, 2018
ATXN11Apr 18, 2018
AUTS23Apr 18, 2018
BCL11B1Mar 27, 2018
BRCA22Mar 27, 2018
CACNA1B1Mar 27, 2018
CACNA1E1Mar 27, 2018
CAMTA11Mar 27, 2018
CBS2Mar 27, 2018
CDC5L1Mar 27, 2018
CHD31Mar 27, 2018
CHD82Mar 27, 2018
CIT1Mar 27, 2018
CKAP51Mar 27, 2018
CLN51Mar 27, 2018
CLTC1Mar 27, 2018
CNOT11Mar 27, 2018
CNTN42Apr 18, 2018
COL11A22Mar 27, 2018
CSNK2A11Mar 27, 2018
CTNNB11Mar 27, 2018
DCC1Apr 18, 2018
DDX3X1Mar 27, 2018
DMD2Apr 18, 2018
DNAH71Mar 27, 2018
DYNC1H11Mar 27, 2018
EIF2B52Mar 27, 2018
EXOC6B1Mar 27, 2018
FBXL31Mar 27, 2018
FGF141Apr 18, 2018
FGFR21Mar 27, 2018
FLG2Mar 27, 2018
FMC1-LUC7L21Apr 18, 2018
FMN21Mar 27, 2018
GATAD2B1Mar 27, 2018
GNB1L1Mar 27, 2018
GNPTAB1Mar 27, 2018
GRIP11Mar 27, 2018
HECW21Mar 27, 2018
HPRT11Mar 27, 2018
ITSN11Mar 27, 2018
KANSL11Mar 27, 2018
KCND21Mar 27, 2018
KCNQ31Mar 27, 2018
KIF111Mar 27, 2018
KIF142Mar 27, 2018
KIF4A2Mar 27, 2018
L1CAM1Mar 27, 2018
LAMA22Mar 27, 2018
LOC1001330771Mar 27, 2018
LOC1027240581Mar 27, 2018
LPA1Mar 27, 2018
LRPPRC2Mar 27, 2018
LUC7L21Apr 18, 2018
MAGEL21Mar 27, 2018
MAPK8IP31Mar 27, 2018
MEA11Mar 27, 2018
MED121Mar 27, 2018
MED12L1Mar 27, 2018
MEF2C1Mar 27, 2018
MEGF82Mar 27, 2018
MITF1Mar 27, 2018
MMP201Mar 27, 2018
MOB1A1Mar 27, 2018
NAA151Mar 27, 2018
NDST12Mar 27, 2018
NEXMIF1Mar 27, 2018
NIPBL1Mar 27, 2018
NLGN4X1Mar 27, 2018
NRXN12Apr 18, 2018
NRXN21Mar 27, 2018
NSUN22Mar 27, 2018
OPA12Mar 27, 2018
PAFAH1B11Mar 27, 2018
PDE11A1Apr 18, 2018
PHEX1Mar 27, 2018
PKP21Mar 27, 2018
PMS21Mar 27, 2018
POGZ1Mar 27, 2018
POLG2Mar 27, 2018
POLR1C1Mar 27, 2018
PPP2R5D1Mar 27, 2018
PRKCZ1Mar 27, 2018
PRKN2Apr 18, 2018
PRR121Mar 27, 2018
PTCH11Mar 27, 2018
PTCHD1-AS1Mar 27, 2018
PTEN1Mar 27, 2018
RAD212Mar 27, 2018
RAF11Mar 27, 2018
RARB1Mar 27, 2018
RBFOX12Apr 18, 2018
RNASEH2B1Mar 27, 2018
RNF1351Apr 18, 2018
RNPC31Mar 27, 2018
ROBO11Mar 27, 2018
RYR12Mar 27, 2018
SALL11May 19, 2017
SCN11A1May 19, 2017
SCN1A1Mar 27, 2018
SCN2A2Mar 27, 2018
SDHA1Mar 27, 2018
SETD1A1Mar 27, 2018
SGSH2May 19, 2017
SHANK22Mar 27, 2018
SLC12A21Mar 27, 2018
SLC2A11Mar 27, 2018
SLC6A31Mar 27, 2018
SMARCA21Mar 27, 2018
SPEN1Mar 27, 2018
SRPK31Mar 27, 2018
STAT11Mar 27, 2018
STXBP11Mar 27, 2018
TAF41Mar 27, 2018
TANC22Mar 27, 2018
TBC1D301Mar 27, 2018
TBL1X2Mar 27, 2018
TCF42Mar 27, 2018
TENM11Mar 27, 2018
TMEM702Mar 27, 2018
TOX21Mar 27, 2018
TRERF11Mar 27, 2018
TUBB2B1Mar 27, 2018
TUSC31Apr 18, 2018
UBR51Mar 27, 2018
UPF3B1Mar 27, 2018
USP481Mar 27, 2018
VPS13D2Mar 27, 2018
ZMYM31Mar 27, 2018
ZNF5212Mar 27, 2018
ZNF7111Mar 27, 2018

Condition

NameSubmissionsLast Updated
Acquired hemoglobin H disease1Mar 27, 2018
Acrodysostosis 2, with or without hormone resistance1Apr 18, 2018
Aicardi Goutieres syndrome 21Mar 27, 2018
Alpha thalassemia-X-linked intellectual disability syndrome1Mar 27, 2018
Alternating hemiplegia of childhood 11Mar 27, 2018
Arrhythmogenic right ventricular dysplasia 91Mar 27, 2018
Asperger syndrome X-linked 21Mar 27, 2018
Autism 172Mar 27, 2018
Autism, susceptibility to, 182Mar 27, 2018
Autism, susceptibility to, X-linked 21Mar 27, 2018
Autistic disorder of childhood onset2Apr 18, 2018
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 12Mar 27, 2018
Axenfeld-Rieger syndrome type 31Apr 18, 2018
Bainbridge-Ropers syndrome1Mar 27, 2018
Becker muscular dystrophy2Apr 18, 2018
Brain malformations and urinary tract defects1Apr 18, 2018
Breast-ovarian cancer, familial 11Apr 18, 2018
Breast-ovarian cancer, familial 23Apr 18, 2018
Carpenter syndrome 22Mar 27, 2018
Central core myopathy2Mar 27, 2018
Cerebellar ataxia, nonprogressive, with mental retardation1Mar 27, 2018
Charcot-Marie-Tooth disease axonal type 2K1Apr 18, 2018
Charcot-Marie-Tooth disease, demyelinating, type 1b1Apr 18, 2018
Chromosome 15q11-q13 duplication syndrome1Mar 27, 2018
Classic homocystinuria2Mar 27, 2018
Coffin-Siris syndrome 11Mar 27, 2018
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type2Mar 27, 2018
Congenital plasminogen activator inhibitor type 1 deficiency1Apr 18, 2018
Corneal dystrophy, Fuchs endothelial, 31Mar 27, 2018
Cornelia de Lange syndrome 11Mar 27, 2018
Cornelia de Lange syndrome 42Mar 27, 2018
Cowden syndrome 11Mar 27, 2018
Cutaneous malignant melanoma 81Mar 27, 2018
Cystinuria1Apr 18, 2018
Deafness, autosomal dominant 561Apr 18, 2018
Deafness, autosomal recessive 161Apr 18, 2018
Dermatitis, atopic, 22Mar 27, 2018
Dilated cardiomyopathy 1G1Apr 18, 2018
Dilated cardiomyopathy 1W1Apr 18, 2018
Dilated cardiomyopathy 3B1Apr 18, 2018
Duchenne muscular dystrophy1Apr 18, 2018
Early infantile epileptic encephalopathy 111Mar 27, 2018
Early infantile epileptic encephalopathy 41Mar 27, 2018
Epilepsy, focal, with speech disorder and with or without mental retardation1Apr 18, 2018
Exudative vitreoretinopathy 11Apr 18, 2018
FG syndrome 11Mar 27, 2018
Familial X-linked hypophosphatemic vitamin D refractory rickets1Mar 27, 2018
Familial hemiplegic migraine type 22Apr 18, 2018
Familial hypertrophic cardiomyopathy 151Apr 18, 2018
Familial hypertrophic cardiomyopathy 161Apr 18, 2018
Fraser syndrome 31Mar 27, 2018
GLUT1 deficiency syndrome 11Mar 27, 2018
Generalized epilepsy with febrile seizures plus, type 21Mar 27, 2018
Generalized juvenile polyposis/juvenile polyposis coli1Apr 18, 2018
Gorlin syndrome1Mar 27, 2018
Hereditary nonpolyposis colorectal cancer type 41Mar 27, 2018
Holoprosencephaly 71Mar 27, 2018
Hyperparathyroidism 11Apr 18, 2018
Hyperparathyroidism 21Apr 18, 2018
Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)1Apr 18, 2018
Immunodeficiency 31C1Mar 27, 2018
Immunodeficiency 31a1Mar 27, 2018
Intellectual disability, autosomal dominant 501Mar 27, 2018
Intellectual disability, autosomal dominant 562Mar 27, 2018
Koolen-de Vries syndrome1Mar 27, 2018
Leri-Weill dyschondrosteosis1Apr 18, 2018
Lesch-Nyhan syndrome1Mar 27, 2018
Leukoencephalopathy with vanishing white matter2Mar 27, 2018
Lissencephaly due to LIS1 mutation1Mar 27, 2018
Macrocephaly, macrosomia, facial dysmorphism syndrome1Apr 18, 2018
Macrocephaly/autism syndrome1Mar 27, 2018
Malignant hyperthermia, susceptibility to, 12Mar 27, 2018
Meckel syndrome 122Mar 27, 2018
Mental retardation, X-linked 1021Mar 27, 2018
Mental retardation, X-linked 981Mar 27, 2018
Mental retardation, autosomal dominant 182Apr 18, 2018
Mental retardation, autosomal dominant 191Mar 27, 2018
Mental retardation, autosomal dominant 262Apr 18, 2018
Mental retardation, autosomal dominant 351Mar 27, 2018
Mental retardation, autosomal recessive 462Mar 27, 2018
Mental retardation, autosomal recessive 471Mar 27, 2018
Mental retardation, autosomal recessive 52Mar 27, 2018
Mental retardation, autosomal recessive 71Apr 18, 2018
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations1Mar 27, 2018
Mental retardation, syndromic 14, X-linked1Mar 27, 2018
Merosin deficient congenital muscular dystrophy2Mar 27, 2018
Microcephaly 16, primary, autosomal recessive1Mar 27, 2018
Microcephaly 17, primary, autosomal recessive1Mar 27, 2018
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation1Mar 27, 2018
Microphthalmia, syndromic 121Mar 27, 2018
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis1Apr 18, 2018
Mirror movements 11Apr 18, 2018
Mitochondrial complex I deficiency1Apr 18, 2018
Mucolipidosis type II1Mar 27, 2018
Mucopolysaccharidosis, MPS-III-A2May 19, 2017
Mycobacterial and viral infections, susceptibility to, autosomal recessive1Mar 27, 2018
Nemaline myopathy 61Apr 18, 2018
Neurodevelopmental disorder with hypotonia, seizures, and absent language1Mar 27, 2018
Neuronal ceroid lipofuscinosis 51Mar 27, 2018
Neuropathy, hereditary sensory and autonomic, type VII1May 19, 2017
Nicolaides-Baraitser syndrome1Mar 27, 2018
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 22Mar 27, 2018
Ohdo syndrome, X-linked1Mar 27, 2018
Okur-chung neurodevelopmental syndrome1Mar 27, 2018
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy2Mar 27, 2018
Otospondylomegaepiphyseal dysplasia, autosomal dominant2Mar 27, 2018
Paragangliomas 31Apr 18, 2018
Paragangliomas 51Mar 27, 2018
Parathyroid carcinoma1Apr 18, 2018
Parkinson disease 21Apr 18, 2018
Parkinsonism-dystonia, infantile, 11Mar 27, 2018
Pigmented nodular adrenocortical disease, primary, 21Apr 18, 2018
Pitt-Hopkins syndrome1Mar 27, 2018
Pitt-Hopkins-like syndrome 21Apr 18, 2018
Polymicrogyria, asymmetric1Mar 27, 2018
Primary autosomal recessive microcephaly 52Mar 27, 2018
Pseudo-Hurler polydystrophy1Mar 27, 2018
Retinitis pigmentosa 391Apr 18, 2018
Schaaf-Yang syndrome1Mar 27, 2018
Schizophrenia 171Apr 18, 2018
Spinocerebellar Ataxia Type 151Apr 18, 2018
Spinocerebellar ataxia type 271Apr 18, 2018
Townes-Brocks syndrome 11May 19, 2017
Usher syndrome, type 2A1Apr 18, 2018
Variegate porphyria1Apr 18, 2018
White-sutton syndrome1Mar 27, 2018
Witteveen-kolk syndrome1Apr 18, 2018
X-linked hydrocephalus syndrome1Mar 27, 2018
X-linked intellectual disability-hypotonic face syndrome1Mar 27, 2018
X-linked mental retardation with marfanoid habitus syndrome1Mar 27, 2018
ZNF711-Related X-linked Mental Retardation1Mar 27, 2018
not provided167Apr 18, 2018
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