ClinVar Miner

Variants from Duke University Health System Sequencing Clinic, Duke University Health System

Location: United States  Primary collection method: research
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
100 52 34 2 0 188

Gene and significance breakdown #

Total genes and gene combinations: 145
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
MED12 2 1 1 0 4
CYP24A1 1 1 1 0 3
DYRK1A 2 1 0 0 3
KCNQ2 2 1 0 0 3
ARID1B 2 0 0 0 2
ASXL1 2 0 0 0 2
ATAD3A 0 1 1 0 2
AUTS2 1 1 0 0 2
CHRNG 1 1 0 0 2
COL4A1 1 1 0 0 2
DCHS1 1 0 1 0 2
DDX11 2 0 0 0 2
EIF2B5 2 0 0 0 2
FKRP 0 0 1 1 2
GMPPB 2 0 0 0 2
GRIN1 2 0 0 0 2
HUWE1 2 0 0 0 2
KARS1 0 2 0 0 2
KCND3 0 2 0 0 2
KCNH1 2 0 0 0 2
LIG4 2 0 0 0 2
MAGEL2 2 0 0 0 2
MEGF8 0 0 2 0 2
MFSD8 0 0 2 0 2
PGAP1 2 0 0 0 2
PTPN23 0 1 1 0 2
RPS6KA3 1 1 0 0 2
SCN8A 1 1 0 0 2
SEPSECS 0 2 0 0 2
SLC22A5 0 0 2 0 2
SLC26A4 2 0 0 0 2
SLC52A2 2 0 0 0 2
SLC6A3 1 0 1 0 2
STK4 0 0 1 1 2
STXBP1 1 1 0 0 2
TACC1 0 0 2 0 2
TTI1 1 1 0 0 2
ZNF335 0 1 1 0 2
ABCC9 1 0 0 0 1
ANKRD11 1 0 0 0 1
ARCN1 1 0 0 0 1
ASXL3 1 0 0 0 1
ATP1A3 1 0 0 0 1
BCORL1 1 0 0 0 1
CCDST, FLG 1 0 0 0 1
CELSR3 0 0 1 0 1
CHD2 0 1 0 0 1
CPNE1, RBM12 0 0 1 0 1
CREBBP 1 0 0 0 1
CTB-99A3.1, PPP2R2B 0 0 1 0 1
CTNNB1, LOC126806659 1 0 0 0 1
DCTN1 1 0 0 0 1
DDX3X 0 1 0 0 1
DNM1, LOC113839516 1 0 0 0 1
DPAGT1 0 1 0 0 1
DPAGT1, LOC126861360 0 1 0 0 1
DYNC1H1 1 0 0 0 1
EEF1A2 0 1 0 0 1
EFTUD2 1 0 0 0 1
EPHA4 0 0 1 0 1
FA2H 1 0 0 0 1
FBXW11 0 1 0 0 1
FOXG1 1 0 0 0 1
GJA1 1 0 0 0 1
GNAO1 1 0 0 0 1
GNB1 1 0 0 0 1
GNE 1 0 0 0 1
GRIN2A 0 1 0 0 1
HCN2 0 1 0 0 1
HIVEP2 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 1
HNRNPK 0 0 1 0 1
HUWE1, LOC126863263 0 0 1 0 1
IGF2, INS-IGF2 1 0 0 0 1
IQSEC2 1 0 0 0 1
JAG1 1 0 0 0 1
KAT6A 1 0 0 0 1
KAT6B 1 0 0 0 1
KCNN2, LOC101927078 0 1 0 0 1
KCNQ3 1 0 0 0 1
KCNT1 0 1 0 0 1
KDM5C 1 0 0 0 1
KIF1A 1 0 0 0 1
KMT2A, TTC36 0 1 0 0 1
KMT2B 1 0 0 0 1
KMT2D 0 1 0 0 1
KMT5B 0 1 0 0 1
LOC100287944, POLR3B 1 0 0 0 1
LOC126653398, TSPEAR 0 0 1 0 1
LOC126862481, POLR2A 0 1 0 0 1
MACF1 0 1 0 0 1
MAST1 1 0 0 0 1
MECP2 0 1 0 0 1
MEPCE 0 0 1 0 1
MSL2 0 0 1 0 1
MSL3 1 0 0 0 1
MYBPC1 1 0 0 0 1
MYCN 0 1 0 0 1
NFIB 1 0 0 0 1
NFIX 1 0 0 0 1
NODAL 0 0 1 0 1
NPC1 1 0 0 0 1
NR4A2 0 1 0 0 1
NSUN2 0 1 0 0 1
PAK3 0 1 0 0 1
PHKA1 1 0 0 0 1
PIK3CA 1 0 0 0 1
PITX1 0 1 0 0 1
PKP2 0 0 1 0 1
PPIL1 0 0 1 0 1
PPP2R1A 1 0 0 0 1
PTCH1 1 0 0 0 1
PTCHD1 0 0 1 0 1
RET 1 0 0 0 1
RIT1 1 0 0 0 1
RP2 1 0 0 0 1
SETBP1 1 0 0 0 1
SHANK3 1 0 0 0 1
SIX1 1 0 0 0 1
SLC16A2 1 0 0 0 1
SLC6A1 0 1 0 0 1
SLC6A8 1 0 0 0 1
SMAD4 1 0 0 0 1
SMARCC2 1 0 0 0 1
SMARCE1 1 0 0 0 1
SNAP25 1 0 0 0 1
SON 1 0 0 0 1
SOS2 1 0 0 0 1
SOX11 0 1 0 0 1
SPAST 1 0 0 0 1
SPRED2 0 0 1 0 1
SPTLC1 1 0 0 0 1
SREBF1 0 0 1 0 1
SSBP1 0 1 0 0 1
TCF4 0 1 0 0 1
TCF7L2 1 0 0 0 1
TRRAP 0 1 0 0 1
TSPEAR 0 1 0 0 1
TUBA1A 0 1 0 0 1
TUBB3 0 1 0 0 1
USP9X 0 0 1 0 1
WWOX 0 1 0 0 1
XPO1 0 0 1 0 1
ZNF292 0 1 0 0 1
ZNF462 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 138
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Neurodevelopmental delay 1 3 2 0 6
Intellectual disability, severe 3 1 0 0 4
DYRK1A-related intellectual disability syndrome 2 1 0 0 3
FG syndrome 1 2 1 0 0 3
Hypercalcemia, infantile, 1 1 1 1 0 3
Intellectual disability, X-linked syndromic, Turner type 2 0 1 0 3
Seizure 0 0 3 0 3
Autism 1 0 1 0 2
Autism spectrum disorder due to AUTS2 deficiency 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 0 1 1 2
Autosomal recessive multiple pterygium syndrome 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 4 2 0 0 0 2
Bohring-Opitz syndrome 2 0 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 1 1 0 0 2
Brown-Vialetto-van Laere syndrome 2 2 0 0 0 2
Classic dopamine transporter deficiency syndrome 1 0 1 0 2
Coffin-Lowry syndrome 1 1 0 0 2
Coffin-Siris syndrome 1 2 0 0 0 2
Combined immunodeficiency due to STK4 deficiency 0 0 1 1 2
Congenital myasthenic syndrome 13 0 2 0 0 2
DNA ligase IV deficiency 2 0 0 0 2
Developmental and epileptic encephalopathy, 4 1 1 0 0 2
Developmental and epileptic encephalopathy, 7 2 0 0 0 2
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 0 1 1 0 2
Intellectual disability, autosomal dominant 8 2 0 0 0 2
Intellectual disability, autosomal recessive 42 2 0 0 0 2
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 2 0 0 2
MEGF8-related Carpenter syndrome 0 0 2 0 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 1 1 0 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 2 0 0 0 2
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 1 1 0 2
Neuronal ceroid lipofuscinosis 7 0 0 2 0 2
Pontocerebellar hypoplasia type 2D 0 2 0 0 2
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 1 1 0 2
Renal carnitine transport defect 0 0 2 0 2
Schaaf-Yang syndrome 2 0 0 0 2
Van Maldergem syndrome 1 1 0 1 0 2
Vanishing white matter disease 2 0 0 0 2
Warsaw breakage syndrome 2 0 0 0 2
Alagille syndrome due to a JAG1 point mutation 1 0 0 0 1
Allan-Herndon-Dudley syndrome 1 0 0 0 1
Alternating hemiplegia of childhood 2 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 0 0 1 0 1
Au-Kline syndrome 0 0 1 0 1
Autism, susceptibility to, X-linked 4 0 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 1 0 0 1
Basilicata-Akhtar syndrome 1 0 0 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 1
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 0 1 0 0 1
Branchiootic syndrome 3 1 0 0 0 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 1 0 0 0 1
Clubfoot 0 1 0 0 1
Coffin-Siris syndrome 5 1 0 0 0 1
Coffin-Siris syndrome 8 1 0 0 0 1
Cognitive impairment with or without cerebellar ataxia 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 0 1
Creatine transporter deficiency 1 0 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 0 1
Developmental and epileptic encephalopathy, 28 0 1 0 0 1
Developmental and epileptic encephalopathy, 31 1 0 0 0 1
Developmental and epileptic encephalopathy, 33 0 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 1 0 0 1
Epileptic encephalopathy 0 0 1 0 1
Feingold syndrome type 1 0 1 0 0 1
Global developmental delay 0 0 1 0 1
Glycogen storage disease IXd 1 0 0 0 1
Gorlin syndrome 1 0 0 0 1
Hereditary spastic paraplegia 35 1 0 0 0 1
Hereditary spastic paraplegia 4 1 0 0 0 1
Heterotaxy, visceral, 5, autosomal 0 0 1 0 1
Houge-Janssens syndrome 2 1 0 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 1
Ichthyosis vulgaris 1 0 0 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 68 1 0 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 1
Intellectual disability, X-linked 30 0 1 0 0 1
Intellectual disability, X-linked 99 0 0 1 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 1
Intellectual disability, autosomal dominant 13 1 0 0 0 1
Intellectual disability, autosomal dominant 27 0 1 0 0 1
Intellectual disability, autosomal dominant 42 1 0 0 0 1
Intellectual disability, autosomal dominant 43 0 1 0 0 1
Intellectual disability, autosomal dominant 51 0 1 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 1
Intellectual disability, autosomal recessive 5 0 1 0 0 1
KBG syndrome 1 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 1 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 0 1
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 1 0 0 0 1
Macrocephaly, acquired, with impaired intellectual development 1 0 0 0 1
Malan overgrowth syndrome 1 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 1 0 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 0 0 0 1
Menke-Hennekam syndrome 1 1 0 0 0 1
Myhre syndrome 1 0 0 0 1
Myoclonic-astatic epilepsy 0 1 0 0 1
Myopathy, congenital, with tremor 1 0 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 0 1
Neurodevelopmental disorder with involuntary movements 1 0 0 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 0 1 0 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 7B 1 0 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1A 1 0 0 0 1
Niemann-Pick disease, type C1 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 1
Noonan syndrome 9 1 0 0 0 1
Obesity 0 0 1 0 1
Oculodentodigital dysplasia 1 0 0 0 1
Optic atrophy 13 with retinal and foveal abnormalities 0 1 0 0 1
Paraplegia-intellectual disability-hyperkeratosis syndrome 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 1
Pitt-Hopkins syndrome 0 1 0 0 1
Pontocerebellar hypoplasia, type 14 0 0 1 0 1
Retinitis pigmentosa 2 1 0 0 0 1
Rett syndrome 0 1 0 0 1
Rett syndrome, congenital variant 1 0 0 0 1
Schinzel-Giedion syndrome 1 0 0 0 1
Seizures, benign familial neonatal, 1 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Severe postnatal growth retardation 0 0 1 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 1 0 0 0 1
Sialuria 1 0 0 0 1
Silver-Russell syndrome 3 1 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 1
Temple-Baraitser syndrome 1 0 0 0 1
Tourette syndrome 0 0 1 0 1
Weiss-kruszka syndrome 1 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 1
ZTTK syndrome 1 0 0 0 1
Zimmermann-Laband syndrome 1 1 0 0 0 1

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