ClinVar Miner

Variants from Clinical Genomics Laboratory, Washington University in St. Louis

Location: United States  Primary collection method: clinical testing
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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
75 46 213 0 0 334

Gene and significance breakdown #

Total genes and gene combinations: 206
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PIK3CA 17 7 1 25
TEK 5 2 1 8
FAT4 0 0 6 6
MTOR 1 1 4 6
NF1 4 0 2 6
PIEZO1 0 0 6 6
SMO 0 0 6 6
DCHS1 0 0 5 5
PTPN14 0 0 5 5
CELSR1 0 0 4 4
GLMN 1 1 2 4
MAP2K1 0 3 1 4
TSC2 0 0 4 4
GNAQ 2 1 0 3
GNAS 2 0 1 3
HRAS, LRRC56 2 0 1 3
KCNH2 0 1 2 3
KRAS 2 1 0 3
LZTR1 0 1 2 3
MED13 0 0 3 3
TSC1 0 0 3 3
TTN 0 1 2 3
APOL1 0 0 2 2
ARAF 0 0 2 2
CCDST, FLG 2 0 0 2
CCNH, RASA1 2 0 0 2
CLDN14 0 0 2 2
DMXL2 0 0 2 2
DNAH5 0 0 2 2
EPHB4, LOC126860124 0 0 2 2
FGFR1 0 0 2 2
FLT4 0 0 2 2
GJC2 0 0 2 2
GNA14 0 0 2 2
HUWE1 0 0 2 2
IQSEC2 0 0 2 2
KCNQ1 2 0 0 2
KDR 0 0 2 2
KMT2A 2 0 0 2
KRIT1 0 0 2 2
KRT1 0 0 2 2
LOC102724058, SCN1A 0 1 1 2
MYBPC3 2 0 0 2
NEDD4L 0 0 2 2
NRAS 1 1 0 2
OCA2 2 0 0 2
PALB2 1 1 0 2
PIK3R1 1 1 0 2
POLR2A 0 0 2 2
PTEN 2 0 0 2
SLC25A46 2 0 0 2
SNAPC4 0 0 2 2
SYNGAP1 0 0 2 2
TNRC6B 0 1 1 2
WDR11 0 0 2 2
WDR24 0 0 2 2
ABL1 0 0 1 1
ABTB3 0 0 1 1
ACVRL1 0 0 1 1
ADA2 0 1 0 1
AIRE, LOC130066813 0 0 1 1
AKT1 1 0 0 1
ANK2 0 1 0 1
ATE1, FGFR2, WDR11 0 0 1 1
ATP1A3 0 0 1 1
ATP6V1B2 0 0 1 1
ATRX 0 0 1 1
BAZ2B 0 0 1 1
BCL11A 0 0 1 1
BNC2, LOC126860585 0 0 1 1
BRAF 1 0 0 1
BRPF1 1 0 0 1
CACNA1A 0 1 0 1
CARD14 0 0 1 1
CDC42 0 1 0 1
CDC42BPB 0 1 0 1
CDK13 0 0 1 1
CDKN1C 0 0 1 1
CELSR1, LOC121627952 0 0 1 1
CHD1 0 0 1 1
CHD2 1 0 0 1
CHD3 0 0 1 1
CHD5 0 0 1 1
CHD7 0 0 1 1
COL10A1, NT5DC1 0 0 1 1
COL11A2 0 0 1 1
COL4A3, MFF-DT 0 1 0 1
COL9A2 1 0 0 1
CPEB4 0 0 1 1
CPOX 0 1 0 1
CTNNB1, LOC126806659 0 0 1 1
DAGLA 0 0 1 1
DEAF1 0 0 1 1
DGKE 0 0 1 1
DHTKD1 0 1 0 1
DNAH11 0 0 1 1
DNAH8 0 0 1 1
DPYSL3 0 0 1 1
DSP 0 1 0 1
DVL1 0 0 1 1
EARS2 1 0 0 1
EEF1A1 0 0 1 1
EIF3F 1 0 0 1
EPHB4 0 0 1 1
EXT1 1 0 0 1
EYA1 0 0 1 1
FBXW11 0 0 1 1
FGFR2 0 0 1 1
FGFR3 1 0 0 1
FLG 1 0 0 1
FRMD7 0 1 0 1
GABBR2 0 0 1 1
GH-LCR, SCN4A 0 1 0 1
GNA11 1 0 0 1
GRIA1 0 0 1 1
HCFC1 0 0 1 1
HECW2 0 0 1 1
HFE 1 0 0 1
HMGB1, USPL1 0 0 1 1
HNF4A 0 1 0 1
HNRNPU 1 0 0 1
HSALR1, PIEZO1 0 0 1 1
IDH1 1 0 0 1
IDH2 0 0 1 1
IL7, ZC2HC1A 0 0 1 1
INVS 0 0 1 1
ITSN1 0 0 1 1
JMJD1C 0 0 1 1
KAT5 0 0 1 1
KCNQ5 0 0 1 1
KIDINS220 0 1 0 1
KIF11 0 0 1 1
KIF1A 0 0 1 1
KIF5A 0 0 1 1
KMT2B 0 0 1 1
KMT2E 0 1 0 1
KRT10 1 0 0 1
LOC126861887, SUPT16H 0 0 1 1
LOC129999303, SMO 0 0 1 1
MAGEL2 0 1 0 1
MAP1B 0 0 1 1
MAP3K3 0 1 0 1
MAPK8IP3 0 0 1 1
MARK2 0 0 1 1
MED13L 0 0 1 1
MSH2 1 0 0 1
MSI2 0 0 1 1
MXRA5 0 0 1 1
MYCN 0 1 0 1
MYH7 0 0 1 1
MYO10 0 0 1 1
NCOR1 0 0 1 1
NDUFA9 0 0 1 1
PACS1 0 0 1 1
PCGF2 0 0 1 1
PDE11A 0 0 1 1
PDGFRB 0 0 1 1
PHF14 0 0 1 1
PIK3CD 0 0 1 1
PIK3R2 0 0 1 1
PKD1 0 0 1 1
PLEC 0 0 1 1
PLXNA3 0 0 1 1
PPFIA3 0 0 1 1
PRKACA 0 0 1 1
PSMB11 0 0 1 1
PTPN11 1 0 0 1
RAB5A 0 0 1 1
RANBP2 0 0 1 1
RELN 0 0 1 1
RERE 0 0 1 1
RET 0 1 0 1
REV3L 0 0 1 1
RORA 0 1 0 1
RRAS 0 0 1 1
SCN2A 0 0 1 1
SCN5A 1 0 0 1
SDHA 0 0 1 1
SEMA6D 0 0 1 1
SERPINA1 1 0 0 1
SHANK1 0 0 1 1
SHANK3 1 0 0 1
SIK1 0 0 1 1
SLC12A2 0 0 1 1
SLC17A8 0 0 1 1
SLC1A2 0 0 1 1
SLC35F1 0 0 1 1
SMAD3 0 1 0 1
SPI1 0 1 0 1
SPTBN1 0 0 1 1
STAT5B 0 0 1 1
STX8 0 0 1 1
SYP 0 0 1 1
TP53 0 0 1 1
TP63 0 0 1 1
TRIP12 0 0 1 1
TRRAP 0 0 1 1
UBA2 0 0 1 1
UBXN7 0 0 1 1
UPF2 0 0 1 1
VAX2 0 0 1 1
WDFY3 0 1 0 1
WWP1 0 0 1 1
ZBTB20 0 0 1 1
ZNF462 0 0 1 1
ZNF827 0 0 1 1

Condition and significance breakdown #

Total conditions: 181
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Condition pathogenic likely pathogenic uncertain significance total
not provided 0 0 38 38
PIK3CA related overgrowth syndrome 17 7 0 24
Vascular malformation 6 6 0 12
Lymphatic malformation 6 0 0 7 7
Neurofibromatosis, type 1 4 0 2 6
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 5 5
Lymphatic malformation 9 0 0 5 5
Lymphedema-posterior choanal atresia syndrome 0 0 5 5
Glomuvenous malformation 1 1 2 4
Hamartoma of hypothalamus 0 0 4 4
Lymphedema 0 0 4 4
Multiple cutaneous and mucosal venous malformations 3 0 1 4
Curry-Jones syndrome 0 0 3 3
Epidermolytic nevus 2 0 1 3
Ichthyosis vulgaris 3 0 0 3
Intellectual developmental disorder 61 0 0 3 3
Lymphatic malformation 7 0 0 3 3
Overgrowth syndrome 0 2 1 3
Tuberous sclerosis 1 0 0 3 3
Tuberous sclerosis 2 0 0 3 3
Tufted angioma of skin 0 0 3 3
APOL1-associated kidney disease 0 0 2 2
Autism 0 0 2 2
Capillary malformation 2 0 0 2
Developmental and epileptic encephalopathy, 81 0 0 2 2
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 1 1 2
Epidermal nevus 2 0 0 2
Global developmental delay with speech and behavioral abnormalities 0 1 1 2
Hereditary breast ovarian cancer syndrome 1 1 0 2
Hereditary lymphedema type I 0 0 2 2
Hypertrophic cardiomyopathy 4 2 0 0 2
Intellectual disability, X-linked 1 0 0 2 2
Intellectual disability, X-linked syndromic, Turner type 0 0 2 2
Isolated focal cortical dysplasia type II 1 0 1 2
Long QT syndrome 1 2 0 0 2
Long QT syndrome 2 0 1 1 2
Lymphatic malformation 3 0 0 2 2
McCune-Albright syndrome 2 0 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 2 2
Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E 2 0 0 2
Noonan syndrome 0 0 2 2
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 0 0 2 2
PTEN hamartoma tumor syndrome 2 0 0 2
Periventricular nodular heterotopia 7 0 0 2 2
Primary ciliary dyskinesia 3 0 0 2 2
Primary dilated cardiomyopathy 0 0 2 2
Sturge-Weber syndrome 1 1 0 2
Tyrosinase-positive oculocutaneous albinism 2 0 0 2
Vein of Galen aneurysmal malformation 0 0 2 2
Wiedemann-Steiner syndrome 2 0 0 2
13q12.3 microdeletion 0 0 1 1
2-aminoadipic 2-oxoadipic aciduria 0 1 0 1
ACCES syndrome 0 0 1 1
ARAF-Related Disorders 0 0 1 1
Agammaglobulinemia 10, autosomal dominant 0 1 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 1
Alpha-1-antitrypsin deficiency 1 0 0 1
Alternating hemiplegia of childhood 2 0 0 1 1
Ankyloblepharon filiforme adnatum-cleft palate syndrome 0 0 1 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 1
Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76 0 0 1 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 1 0 1
Autosomal dominant Robinow syndrome 2 0 0 1 1
Autosomal dominant deafness - onychodystrophy syndrome 0 0 1 1
Autosomal dominant nonsyndromic hearing loss 25 0 0 1 1
Autosomal dominant polycystic kidney disease 0 0 1 1
BAZ2B-associated neurodevelopmental disorder 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 1 1
Branchiootorenal syndrome 1 0 0 1 1
Brugada syndrome 1 1 0 0 1
CHARGE association 0 0 1 1
Capillary infantile hemangioma 0 0 1 1
Carcinoma of colon 0 0 1 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 1
Cardioacrofacial dysplasia 1 0 0 1 1
Cardiofaciocutaneous syndrome 3 0 0 1 1
Cerebral arteriovenous malformation 1 0 0 1
Cerebral cavernous malformation 0 0 1 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 1 0 1
Clark-Baraitser syndrome 0 0 1 1
Complex neurodevelopmental disorder 0 1 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 1 1
Congenital myopathy 0 1 0 1
Deficiency of adenosine deaminase 2 0 1 0 1
Delpire-McNeill syndrome 0 0 1 1
Developmental and epileptic encephalopathy 94 1 0 0 1
Developmental and epileptic encephalopathy, 30 0 0 1 1
Developmental and epileptic encephalopathy, 41 0 0 1 1
Developmental and epileptic encephalopathy, 54 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 1
Developmental delay, impaired speech, and behavioral abnormalities; Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 1
Dias-Logan syndrome 0 0 1 1
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 0 0 1 1
Ebstein anomaly 0 0 1 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 1
Epidermolytic hyperkeratosis 1 0 0 1 1
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 0 1 0 1
Exostoses, multiple, type 1 1 0 0 1
FGFR2-related conditions 0 0 1 1
Familial acute necrotizing encephalopathy 0 0 1 1
Familial thoracic aortic aneurysm and aortic dissection 0 1 0 1
Feingold syndrome type 1 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 1
Growth hormone insensitivity syndrome with immune dysregulation 0 0 1 1
Hemochromatosis type 1 1 0 0 1
Hemolytic uremic syndrome with DGKE deficiency 0 0 1 1
Hereditary coproporphyria 0 1 0 1
Hereditary hemorrhagic telangiectasia 0 0 1 1
ITSN1-related neurodevelopmental disorders 0 0 1 1
Ichthyosis 0 0 1 1
Immunodeficiency 14 0 0 1 1
Infantile nephronophthisis 0 0 1 1
Inherited neurodegenerative disorder 0 0 1 1
Intellectual developmental disorder with dysmorphic facies and ptosis 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 0 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 1
Intellectual disability, X-linked 96 0 0 1 1
Intellectual disability, autosomal dominant 24 0 0 1 1
Intellectual disability, autosomal dominant 46 0 0 1 1
Intellectual disability, autosomal dominant 5 0 0 1 1
Intellectual disability, autosomal dominant 9 0 0 1 1
KRIT1-Related Disorders 0 0 1 1
Large congenital melanocytic nevus 1 0 0 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 0 0 1
Linear nevus sebaceous syndrome 1 0 0 1
Long QT syndrome 0 0 1 1
Lynch syndrome 1 1 0 0 1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 1 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 1 0 1
Maffucci syndrome 1 0 0 1
Maturity-onset diabetes of the young type 1 0 1 0 1
Metaphyseal chondrodysplasia, Schmid type 0 0 1 1
Microcephaly 18, primary, autosomal dominant 0 1 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 1 1
Neoplasm of the large intestine 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 1 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 1
Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 0 1 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 1 1
Noonan syndrome 1 1 0 0 1
Noonan syndrome 10 0 1 0 1
Nystagmus 1, congenital, X-linked 0 1 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 0 1 1
PIK3CA-Related Disorders 0 0 1 1
Parenti-mignot neurodevelopmental syndrome 0 0 1 1
Periventricular nodular heterotopia 9 0 0 1 1
Pfeiffer syndrome 0 0 1 1
Pfeiffer syndrome type 1 0 0 1 1
Phelan-McDermid syndrome 1 0 0 1
Pheochromocytoma; Familial medullary thyroid carcinoma 0 1 0 1
Pilarowski-Bjornsson syndrome 0 0 1 1
Pityriasis rubra pilaris; Psoriasis 2 0 0 1 1
Polyglandular autoimmune syndrome, type 1 0 0 1 1
Primary ciliary dyskinesia 7 0 0 1 1
Primrose syndrome 0 0 1 1
Proteus syndrome 1 0 0 1
Pseudohypoparathyroidism type I A 0 0 1 1
Pyogenic granuloma 0 1 0 1
SYNGAP1-related developmental and epileptic encephalopathy 0 0 1 1
Schaaf-Yang syndrome 0 1 0 1
Schuurs-Hoeijmakers syndrome 0 0 1 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 0 1 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 0 1 1
Snijders Blok-Campeau syndrome 0 0 1 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 1 0 1
Spermatogenic failure 46 0 0 1 1
Stickler syndrome, type 5 1 0 0 1
Tuberous sclerosis syndrome 0 0 1 1
Turnpenny-fry syndrome 0 0 1 1
Van Maldergem syndrome 1 0 0 1 1
Van Maldergem syndrome 2 0 0 1 1
Verrucous venous malformation 0 1 0 1
Weiss-kruszka syndrome 0 0 1 1
X-linked intellectual disability 0 0 1 1

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