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Duke University Health System Sequencing Clinic (Duke University Health System)

General information

Duke University Health System Sequencing Clinic
Duke University Health System
Durham
United States

Organization ID: 505392

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 188

Gene

GeneSubmissionsLast Updated
ABCC91Apr 20, 2023
ANKRD111Apr 20, 2023
ARCN11Apr 20, 2023
ARID1B2Apr 20, 2023
ASXL12Apr 20, 2023
ASXL31Apr 20, 2023
ATAD3A2Apr 20, 2023
ATP1A31Apr 20, 2023
AUTS22Apr 20, 2023
BCORL11Apr 20, 2023
CCDST1Apr 20, 2023
CELSR31Apr 20, 2023
CHD21Apr 20, 2023
CHRNG2Apr 20, 2023
COL4A12Apr 20, 2023
CPNE11Apr 20, 2023
CREBBP1Apr 20, 2023
CTB-99A3.11Oct 20, 2022
CTNNB11Apr 20, 2023
CYP24A13Apr 20, 2023
DCHS12Apr 20, 2023
DCTN11Apr 20, 2023
DDX112Apr 20, 2023
DDX3X1Apr 20, 2023
DNM11Apr 20, 2023
DPAGT12Apr 20, 2023
DYNC1H11Apr 20, 2023
DYRK1A3Apr 20, 2023
EEF1A21Apr 20, 2023
EFTUD21Apr 20, 2023
EIF2B52Apr 20, 2023
EPHA41Apr 20, 2023
FA2H1Apr 20, 2023
FBXW111Apr 20, 2023
FKRP2Apr 20, 2023
FLG1Apr 20, 2023
FOXG11Apr 20, 2023
GJA11Apr 20, 2023
GMPPB2Apr 20, 2023
GNAO11Apr 20, 2023
GNB11Apr 20, 2023
GNE1Apr 20, 2023
GRIN12Apr 20, 2023
GRIN2A1Apr 20, 2023
HCN21Apr 20, 2023
HIVEP21Apr 20, 2023
HNRNPH21Apr 20, 2023
HNRNPK1Apr 20, 2023
HUWE13Apr 20, 2023
IGF21Apr 20, 2023
INS-IGF21Apr 20, 2023
IQSEC21Apr 20, 2023
JAG11Apr 20, 2023
KARS12Apr 20, 2023
KAT6A1Apr 20, 2023
KAT6B1Apr 20, 2023
KCND32Apr 20, 2023
KCNH12Apr 20, 2023
KCNN21Apr 20, 2023
KCNQ23Apr 20, 2023
KCNQ31Apr 20, 2023
KCNT11Apr 20, 2023
KDM5C1Apr 20, 2023
KIF1A1Apr 20, 2023
KMT2A1Apr 20, 2023
KMT2B1Apr 20, 2023
KMT2D1Apr 20, 2023
KMT5B1Apr 20, 2023
LIG42Apr 20, 2023
LOC1002879441Apr 20, 2023
LOC1019270781Apr 20, 2023
LOC1138395161Apr 20, 2023
LOC1266533981Apr 20, 2023
LOC1268066591Apr 20, 2023
LOC1268613601Apr 20, 2023
LOC1268624811Apr 20, 2023
LOC1268632631Apr 20, 2023
MACF11Apr 20, 2023
MAGEL22Apr 20, 2023
MAST11Apr 20, 2023
MECP21Apr 20, 2023
MED124Apr 20, 2023
MEGF82Apr 20, 2023
MEPCE1Apr 20, 2023
MFSD82Apr 20, 2023
MSL21Apr 20, 2023
MSL31Apr 20, 2023
MYBPC11Apr 20, 2023
MYCN1Apr 20, 2023
NFIB1Apr 20, 2023
NFIX1Apr 20, 2023
NODAL1Apr 20, 2023
NPC11Apr 20, 2023
NR4A21Apr 20, 2023
NSUN21Apr 20, 2023
PAK31Apr 20, 2023
PGAP12Apr 20, 2023
PHKA11Apr 20, 2023
PIK3CA1Apr 20, 2023
PITX11Apr 20, 2023
PKP21Apr 20, 2023
POLR2A1Apr 20, 2023
POLR3B1Apr 20, 2023
PPIL11Apr 20, 2023
PPP2R1A1Apr 20, 2023
PPP2R2B1Oct 20, 2022
PTCH11Apr 20, 2023
PTCHD11Apr 20, 2023
PTPN232Apr 20, 2023
RBM121Apr 20, 2023
RET1Apr 20, 2023
RIT11Apr 20, 2023
RP21Apr 20, 2023
RPL36A-HNRNPH21Apr 20, 2023
RPS6KA32Apr 20, 2023
SCN8A2Apr 20, 2023
SEPSECS2Apr 20, 2023
SETBP11Apr 20, 2023
SHANK31Apr 20, 2023
SIX11Apr 20, 2023
SLC16A21Apr 20, 2023
SLC22A52Apr 20, 2023
SLC26A42Apr 20, 2023
SLC52A22Apr 9, 2015
SLC6A11Apr 20, 2023
SLC6A32Apr 20, 2023
SLC6A81Apr 20, 2023
SMAD41Apr 20, 2023
SMARCC21Apr 20, 2023
SMARCE11Apr 20, 2023
SNAP251Apr 20, 2023
SON1Apr 20, 2023
SOS21Apr 20, 2023
SOX111Apr 20, 2023
SPAST1Apr 20, 2023
SPRED21Apr 20, 2023
SPTLC11Apr 20, 2023
SREBF11Apr 20, 2023
SSBP11Apr 20, 2023
STK42Apr 20, 2023
STXBP12Apr 20, 2023
TACC12Apr 20, 2023
TCF41Apr 20, 2023
TCF7L21Apr 20, 2023
TRRAP1Apr 20, 2023
TSPEAR2Apr 20, 2023
TSPEAR-AS11Apr 20, 2023
TTC36-AS11Apr 20, 2023
TTI12Apr 20, 2023
TUBA1A1Apr 20, 2023
TUBB31Apr 20, 2023
USP9X1Apr 20, 2023
WWOX1Apr 20, 2023
XPO11Apr 20, 2023
ZNF2921Apr 20, 2023
ZNF3352Apr 20, 2023
ZNF4621Apr 20, 2023

Condition

NameSubmissionsLast Updated
Alagille syndrome due to a JAG1 point mutation1Apr 20, 2023
Allan-Herndon-Dudley syndrome1Apr 20, 2023
Alternating hemiplegia of childhood 21Apr 20, 2023
Arrhythmogenic right ventricular dysplasia 91Apr 20, 2023
Au-Kline syndrome1Apr 20, 2023
Autism2Apr 20, 2023
Autism spectrum disorder due to AUTS2 deficiency2Apr 20, 2023
Autism, susceptibility to, X-linked 41Apr 20, 2023
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Apr 20, 2023
Autosomal dominant nocturnal frontal lobe epilepsy 51Apr 20, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2I2Apr 20, 2023
Autosomal recessive multiple pterygium syndrome2Apr 20, 2023
Autosomal recessive nonsyndromic hearing loss 42Apr 20, 2023
Basilicata-Akhtar syndrome1Apr 20, 2023
Blepharophimosis - intellectual disability syndrome, MKB type1Apr 20, 2023
Blepharophimosis - intellectual disability syndrome, SBBYS type1Apr 20, 2023
Bohring-Opitz syndrome2Apr 20, 2023
Brain small vessel disease 1 with or without ocular anomalies2Apr 20, 2023
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome1Apr 20, 2023
Branchiootic syndrome 31Apr 20, 2023
Brown-Vialetto-van Laere syndrome 22Apr 9, 2015
Charcot-Marie-Tooth disease, demyelinating, IIA 1I1Apr 20, 2023
Classic dopamine transporter deficiency syndrome2Apr 20, 2023
Clubfoot1Apr 20, 2023
Coffin-Lowry syndrome2Apr 20, 2023
Coffin-Siris syndrome 12Apr 20, 2023
Coffin-Siris syndrome 51Apr 20, 2023
Coffin-Siris syndrome 81Apr 20, 2023
Cognitive impairment with or without cerebellar ataxia1Apr 20, 2023
Combined immunodeficiency due to STK4 deficiency2Apr 20, 2023
Complex cortical dysplasia with other brain malformations 11Apr 20, 2023
Congenital myasthenic syndrome 132Apr 20, 2023
Creatine transporter deficiency1Apr 20, 2023
DNA ligase IV deficiency2Apr 20, 2023
DYRK1A-related intellectual disability syndrome3Apr 20, 2023
Developmental and epileptic encephalopathy 941Apr 20, 2023
Developmental and epileptic encephalopathy, 131Apr 20, 2023
Developmental and epileptic encephalopathy, 281Apr 20, 2023
Developmental and epileptic encephalopathy, 31A1Apr 20, 2023
Developmental and epileptic encephalopathy, 331Apr 20, 2023
Developmental and epileptic encephalopathy, 42Apr 20, 2023
Developmental and epileptic encephalopathy, 72Apr 20, 2023
Developmental delay with or without dysmorphic facies and autism1Apr 20, 2023
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis2Apr 20, 2023
Epileptic encephalopathy1Apr 20, 2023
FG syndrome 13Apr 20, 2023
Feingold syndrome type 11Apr 20, 2023
Global developmental delay1Oct 20, 2022
Glycogen storage disease IXd1Apr 20, 2023
Gorlin syndrome1Apr 20, 2023
Hereditary spastic paraplegia 351Apr 20, 2023
Hereditary spastic paraplegia 41Apr 20, 2023
Heterotaxy, visceral, 5, autosomal1Apr 20, 2023
Houge-Janssens syndrome 21Apr 20, 2023
Hypercalcemia, infantile, 13Apr 20, 2023
Hypertrichotic osteochondrodysplasia Cantu type1Apr 20, 2023
Ichthyosis vulgaris1Apr 20, 2023
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism1Apr 20, 2023
Intellectual developmental disorder, autosomal dominant 641Apr 20, 2023
Intellectual developmental disorder, autosomal dominant 681Apr 20, 2023
Intellectual disability, X-linked 1021Apr 20, 2023
Intellectual disability, X-linked 301Apr 20, 2023
Intellectual disability, X-linked 991Apr 20, 2023
Intellectual disability, X-linked syndromic, Turner type3Apr 20, 2023
Intellectual disability, X-linked, syndromic, Bain type1Apr 20, 2023
Intellectual disability, autosomal dominant 131Apr 20, 2023
Intellectual disability, autosomal dominant 271Apr 20, 2023
Intellectual disability, autosomal dominant 421Apr 20, 2023
Intellectual disability, autosomal dominant 431Apr 20, 2023
Intellectual disability, autosomal dominant 511Apr 20, 2023
Intellectual disability, autosomal dominant 82Apr 20, 2023
Intellectual disability, autosomal dominant 91Apr 20, 2023
Intellectual disability, autosomal recessive 422Apr 20, 2023
Intellectual disability, autosomal recessive 51Apr 20, 2023
Intellectual disability, severe4Apr 20, 2023
KBG syndrome1Apr 20, 2023
Landau-Kleffner syndrome1Apr 20, 2023
Leukoencephalopathy, progressive, infantile-onset, with or without deafness2Apr 20, 2023
Lissencephaly 9 with complex brainstem malformation1Apr 20, 2023
Lissencephaly due to TUBA1A mutation1Apr 20, 2023
MEGF8-related Carpenter syndrome2Apr 20, 2023
Macrocephaly, acquired, with impaired intellectual development1Apr 20, 2023
Malan overgrowth syndrome1Apr 20, 2023
Mandibulofacial dysostosis-microcephaly syndrome1Apr 20, 2023
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Apr 20, 2023
Megalencephaly-capillary malformation-polymicrogyria syndrome1Apr 20, 2023
Menke-Hennekam syndrome 11Apr 20, 2023
Microcephalic primordial dwarfism due to ZNF335 deficiency2Apr 20, 2023
Multiple endocrine neoplasia type 2B1Apr 20, 2023
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A142Apr 20, 2023
Myhre syndrome1Apr 20, 2023
Myoclonic-astatic epilepsy1Apr 20, 2023
Myopathy, congenital, with tremor1Apr 20, 2023
Neurodevelopmental delay6Apr 20, 2023
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity2Apr 20, 2023
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Apr 20, 2023
Neurodevelopmental disorder with involuntary movements1Apr 20, 2023
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities1Apr 20, 2023
Neurodevelopmental, jaw, eye, and digital syndrome1Apr 20, 2023
Neuronal ceroid lipofuscinosis 72Apr 20, 2023
Neuronopathy, distal hereditary motor, type 7B1Apr 20, 2023
Neuropathy, hereditary sensory and autonomic, type 1A1Apr 20, 2023
Niemann-Pick disease, type C11Apr 20, 2023
Noonan syndrome 81Apr 20, 2023
Noonan syndrome 91Apr 20, 2023
Obesity1Apr 20, 2023
Oculodentodigital dysplasia1Apr 20, 2023
Optic atrophy 13 with retinal and foveal abnormalities1Apr 20, 2023
Paraplegia-intellectual disability-hyperkeratosis syndrome1Apr 20, 2023
Phelan-McDermid syndrome1Apr 20, 2023
Pitt-Hopkins syndrome1Apr 20, 2023
Pontocerebellar hypoplasia type 2D2Apr 20, 2023
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal2Apr 20, 2023
Pontocerebellar hypoplasia, type 141Apr 20, 2023
Renal carnitine transport defect2Apr 20, 2023
Retinitis pigmentosa 21Apr 20, 2023
Rett syndrome1Apr 20, 2023
Rett syndrome, congenital variant1Apr 20, 2023
Schaaf-Yang syndrome2Apr 20, 2023
Schinzel-Giedion syndrome1Apr 20, 2023
Seizure3Apr 20, 2023
Seizures, benign familial neonatal, 11Apr 20, 2023
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Apr 20, 2023
Severe intellectual disability-progressive spastic diplegia syndrome1Apr 20, 2023
Severe postnatal growth retardation1Apr 20, 2023
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay1Apr 20, 2023
Sialuria1Apr 20, 2023
Silver-Russell syndrome 31Apr 20, 2023
Syndromic X-linked intellectual disability Claes-Jensen type1Apr 20, 2023
Temple-Baraitser syndrome1Apr 20, 2023
Tourette syndrome1Apr 20, 2023
Van Maldergem syndrome 12Apr 20, 2023
Vanishing white matter disease2Apr 20, 2023
Warsaw breakage syndrome2Apr 20, 2023
Weiss-Kruszka syndrome1Apr 20, 2023
Wiedemann-Steiner syndrome1Apr 20, 2023
ZTTK syndrome1Apr 20, 2023
Zimmermann-Laband syndrome 11Apr 20, 2023