ClinVar Miner

Variants from Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

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 other total
87 49 14 72 43 3 268

Gene and significance breakdown #

Total genes and gene combinations: 198
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
PIK3R1 7 2 0 0 0 0 9
CHD7 1 1 0 3 1 0 6
IQSEC2 2 2 1 0 0 0 5
ANKRD11 3 0 0 1 0 0 4
CREBBP 1 2 0 0 0 0 3
EHMT1 1 1 0 0 1 0 3
NSD2 3 0 0 0 0 0 3
PKP2 0 0 0 3 0 0 3
RYR1 2 1 0 0 0 0 3
SRCAP 0 0 0 0 3 0 3
ABCC9 1 1 0 0 0 0 2
AP4M1 1 1 0 0 0 0 2
ARID1A 1 0 0 1 0 0 2
ATN1, LOC109461484 0 0 0 0 2 0 2
ATXN7 0 0 0 2 0 0 2
BRAF 0 2 0 0 0 0 2
BRCA1, LOC126862571 0 0 0 2 0 0 2
BRCA2 0 0 0 2 0 0 2
C2CD3 0 0 0 0 2 0 2
CCDST, FLG 2 0 0 0 0 0 2
CEP55 1 0 1 0 0 0 2
CSNK2A1 2 0 0 0 0 0 2
DDX3X 2 0 0 0 0 0 2
FOXP1 1 0 0 1 0 0 2
KCNQ1 1 0 0 1 0 0 2
KDM5C 1 0 0 1 0 0 2
LOC108663996, TBP 0 0 0 0 2 0 2
MED12 0 0 1 1 0 0 2
MED25 0 2 0 0 0 0 2
MYH7 0 0 0 1 1 0 2
MYT1L 2 0 0 0 0 0 2
OPA1 1 0 1 0 0 0 2
PIGA 0 2 0 0 0 0 2
PTPN11 2 0 0 0 0 0 2
PUF60 1 0 0 0 1 0 2
RAI1 1 0 0 0 1 0 2
RPS6KA3 1 1 0 0 0 0 2
SAMHD1 1 1 0 0 0 0 2
SATB2 1 1 0 0 0 0 2
SLC17A5 2 0 0 0 0 0 2
SLC22A5 1 1 0 0 0 0 2
SLC2A1 2 0 0 0 0 0 2
SLC6A3 0 0 2 0 0 0 2
SRD5A2 1 1 0 0 0 0 2
STXBP1 2 0 0 0 0 0 2
TBCD 0 0 2 0 0 0 2
TRNT1 0 2 0 0 0 0 2
ZEB2 2 0 0 0 0 0 2
AARS1 0 0 0 1 0 0 1
ACP5 0 0 0 0 1 0 1
ACTB 0 1 0 0 0 0 1
ADAT3, SCAMP4 0 0 0 0 1 0 1
AHDC1 0 0 0 0 1 0 1
ALDH18A1 0 0 0 1 0 0 1
ALK, PRRC2B 0 0 0 0 0 1 1
AMPD2 0 0 1 0 0 0 1
ANO5 0 0 0 1 0 0 1
AP4S1 1 0 0 0 0 0 1
APC 0 0 0 1 0 0 1
APTX 0 0 0 0 1 0 1
ARID1B 1 0 0 0 0 0 1
ARID2 0 1 0 0 0 0 1
ARX 0 1 0 0 0 0 1
ASIC4, GMPPA 0 0 0 1 0 0 1
ASMT 0 0 0 1 0 0 1
ATP6V1A 1 0 0 0 0 0 1
ATXN1 0 0 0 1 0 0 1
ATXN3, LOC108663987 0 0 0 0 1 0 1
AUTS2 0 0 0 1 0 0 1
B3GLCT 0 0 0 0 1 0 1
BCAP31 0 0 0 1 0 0 1
BCOR 0 0 0 1 0 0 1
CACNA1B 0 0 0 1 0 0 1
CACNA1C 0 1 0 0 0 0 1
CACNA1S 0 0 0 1 0 0 1
CAMTA1, LOC126805603 1 0 0 0 0 0 1
CAV3, OXTR 0 1 0 0 0 0 1
CBL 1 0 0 0 0 0 1
CCND2 1 0 0 0 0 0 1
CDKL5 1 0 0 0 0 0 1
CFHR5 0 0 0 1 0 0 1
CFI 0 0 0 1 0 0 1
CFTR, LOC111674477 0 0 0 1 0 0 1
CHD2 0 1 0 0 0 0 1
CHRNB2 0 0 0 1 0 0 1
COL11A1 0 1 0 0 0 0 1
COL3A1 0 1 0 0 0 0 1
COL5A1 0 0 0 0 1 0 1
COL6A3 0 0 0 1 0 0 1
COL6A3, LOC126806573 0 0 0 1 0 0 1
CSF3R 0 0 0 1 0 0 1
D2HGDH 0 0 0 1 0 0 1
DCHS1 0 0 0 1 0 0 1
DHCR7, NADSYN1 0 0 0 1 0 0 1
DMXL2 0 0 0 1 0 0 1
DNAI2 0 0 0 1 0 0 1
DUOX2 0 0 0 1 0 0 1
DVL1 0 0 0 0 1 0 1
DYRK1A 0 1 0 0 0 0 1
EFTUD2 1 0 0 0 0 0 1
EPG5 0 0 0 0 1 0 1
FBN1 0 0 0 1 0 0 1
FGFR1 0 0 0 0 0 1 1
FGFR3 0 0 0 1 0 0 1
FLG 0 0 0 1 0 0 1
FOXG1 0 1 0 0 0 0 1
GABRB2 0 0 1 0 0 0 1
GABRB3 0 1 0 0 0 0 1
GABRG2 1 0 0 0 0 0 1
GLI2 0 0 0 1 0 0 1
GLIS3 0 0 0 1 0 0 1
GRIN2A 0 0 0 1 0 0 1
HBB, LOC106099062, LOC107133510 1 0 0 0 0 0 1
HBB, LOC107133510, LOC110006319 0 1 0 0 0 0 1
HDAC8 0 0 0 0 1 0 1
HNRNPK 1 0 0 0 0 0 1
HRAS, LRRC56 1 0 0 0 0 0 1
HTT, LOC129929027 0 0 0 0 1 0 1
HYLS1, PUS3 1 0 0 0 0 0 1
IDUA 1 0 0 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
IGFALS 0 0 0 1 0 0 1
IL10RA 0 0 0 1 0 0 1
ITGB3 0 0 0 0 1 0 1
JAK2, ZBTB20 0 1 0 0 0 0 1
KANSL1 1 0 0 0 0 0 1
KAT6B 0 0 0 0 1 0 1
KATNIP 0 0 0 0 1 0 1
KCNT1 0 0 0 1 0 0 1
KERA 1 0 0 0 0 0 1
KMT2D 1 0 0 0 0 0 1
KRT85 0 0 0 0 1 0 1
LAMA2 0 0 0 0 1 0 1
LDLR 0 0 0 1 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
LONP1 0 0 0 0 1 0 1
MAK 0 0 0 1 0 0 1
MECP2 1 0 0 0 0 0 1
MED13L 1 0 0 0 0 0 1
MET, RBPMS 0 0 0 0 0 1 1
NAA10 1 0 0 0 0 0 1
NBEA 0 0 1 0 0 0 1
NEB 0 0 0 1 0 0 1
NEDD4L 0 0 1 0 0 0 1
NLGN4X 0 0 0 1 0 0 1
NLRP12 0 0 0 1 0 0 1
NOTCH1 0 1 0 0 0 0 1
NPHP3-ACAD11, UBA5 0 1 0 0 0 0 1
NUBPL 0 1 0 0 0 0 1
PARN 0 1 0 0 0 0 1
PIK3R2 1 0 0 0 0 0 1
POLD1 0 0 0 0 1 0 1
POLR3B 0 1 0 0 0 0 1
PPP2R1A 0 1 0 0 0 0 1
PPP2R5D 1 0 0 0 0 0 1
PRF1 0 0 0 1 0 0 1
PRKAG2 0 0 0 1 0 0 1
PRODH 0 0 0 1 0 0 1
PYCR1 0 0 1 0 0 0 1
RBM28 0 0 0 0 1 0 1
RNASEH2B 0 0 1 0 0 0 1
RPS24 0 0 0 1 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 0 0 1 0 1
RYR2 0 0 0 1 0 0 1
SALL1 1 0 0 0 0 0 1
SCN1B 0 0 0 1 0 0 1
SCN8A 1 0 0 0 0 0 1
SEC23B 0 0 0 1 0 0 1
SERPINC1 0 1 0 0 0 0 1
SETBP1 0 0 0 0 1 0 1
SETD5 0 1 0 0 0 0 1
SHANK3 1 0 0 0 0 0 1
SLC6A8 0 0 0 0 1 0 1
SLX4 0 0 0 1 0 0 1
SMAD4 1 0 0 0 0 0 1
SMARCA2 0 0 0 0 1 0 1
SMC1A 1 0 0 0 0 0 1
SMPD1 0 0 0 0 1 0 1
SON 1 0 0 0 0 0 1
SYNE1 0 0 0 1 0 0 1
SYNGAP1 0 1 0 0 0 0 1
TAOK1 0 1 0 0 0 0 1
TBL1XR1 0 1 0 0 0 0 1
TBX1 0 1 0 0 0 0 1
TCF4 1 0 0 0 0 0 1
TCN2 0 0 0 0 1 0 1
TDP1 0 0 0 1 0 0 1
TECPR2 0 0 0 0 1 0 1
TGFBR1 0 0 0 0 1 0 1
TGM6 0 0 0 1 0 0 1
TMIE 0 0 0 1 0 0 1
TRIP12 1 0 0 0 0 0 1
TSC2 0 0 0 1 0 0 1
TUBB4A 1 0 0 0 0 0 1
USP9X 0 0 0 0 1 0 1
ZNF469 0 0 0 1 0 0 1
ZSWIM6 0 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 108
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
not specified 0 0 0 72 43 0 115
Vascular Malformations and Overgrowth 7 2 0 0 0 0 9
Intellectual disability, X-linked 1 2 2 1 0 0 0 5
4p partial monosomy syndrome 3 0 0 0 0 0 3
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia 2 1 0 0 0 0 3
KBG syndrome 3 0 0 0 0 0 3
Kleefstra syndrome 1 1 2 0 0 0 0 3
Rubinstein-Taybi syndrome due to CREBBP mutations 1 2 0 0 0 0 3
Wolf-Hirschhorn like syndrome 3 0 0 0 0 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 1 0 0 0 0 2
Abortive cerebellar ataxia; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form 1 0 1 0 0 0 2
Aicardi-Goutieres syndrome 5 1 1 0 0 0 0 2
Charcot-Marie-Tooth disease type 2B2; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 0 2 0 0 0 0 2
Chromosome 2q32-q33 deletion syndrome 1 1 0 0 0 0 2
Classic dopamine transporter deficiency syndrome 0 0 2 0 0 0 2
Coffin-Lowry syndrome 1 1 0 0 0 0 2
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome; Retinitis pigmentosa and erythrocytic microcytosis 0 2 0 0 0 0 2
Dermatitis, atopic, 2; Ichthyosis vulgaris 2 0 0 0 0 0 2
Developmental and epileptic encephalopathy, 4 2 0 0 0 0 0 2
Developmental and epileptic encephalopathy, 44 1 1 0 0 0 0 2
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 0 0 2 0 0 0 2
Hb SS disease 1 1 0 0 0 0 2
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2 2 0 0 0 0 0 2
Hereditary spastic paraplegia 50 1 1 0 0 0 0 2
Intellectual disability, X-linked 102 2 0 0 0 0 0 2
Intellectual disability, autosomal dominant 39 2 0 0 0 0 0 2
Mowat-Wilson syndrome 2 0 0 0 0 0 2
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 1 0 1 0 0 0 2
Noonan syndrome 1; Metachondromatosis; LEOPARD syndrome 1 2 0 0 0 0 0 2
Okur-Chung neurodevelopmental syndrome 2 0 0 0 0 0 2
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 2 0 0 0 0 2
RASopathy 0 2 0 0 0 0 2
Renal carnitine transport defect 1 1 0 0 0 0 2
Sialic acid storage disease, severe infantile type; Salla disease 2 0 0 0 0 0 2
8q24.3 microdeletion syndrome 1 0 0 0 0 0 1
Aicardi-Goutieres syndrome 2 0 0 1 0 0 0 1
Aortic valve disease 1; Adams-Oliver syndrome 5 0 1 0 0 0 0 1
Au-Kline syndrome 1 0 0 0 0 0 1
Autosomal recessive cutis laxa type 2B; PYCR1-related de Barsy syndrome 0 0 1 0 0 0 1
Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome 0 1 0 0 0 0 1
CHARGE association 0 1 0 0 0 0 1
CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 1 0 0 0 0 0 1
Cardiovascular phenotype 1 0 0 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 0 0 0 0 0 1
Clark-Baraitser syndrome 1 0 0 0 0 0 1
Coffin-Siris syndrome 1 1 0 0 0 0 0 1
Coffin-Siris syndrome 6 0 1 0 0 0 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5 1 0 0 0 0 0 1
Congenital fibrosarcoma 0 0 0 0 0 1 1
Congenital muscular hypertrophy-cerebral syndrome 1 0 0 0 0 0 1
Cornea plana 2 1 0 0 0 0 0 1
Costello syndrome 1 0 0 0 0 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 2 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 0 0 0 0 1
Dyskeratosis congenita, autosomal recessive 6 0 1 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 1 0 0 0 0 1
Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 0 1 0 0 0 0 1
Epilepsy, childhood absence 2; Developmental and epileptic encephalopathy, 74 1 0 0 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 2 0 0 1 0 0 0 1
Epileptic encephalopathy, infantile or early childhood, 3 1 0 0 0 0 0 1
Hereditary antithrombin deficiency 0 1 0 0 0 0 1
Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 0 0 1 0 0 0 1
Hogue-Janssens syndrome 1 1 0 0 0 0 0 1
Houge-Janssens syndrome 2 0 1 0 0 0 0 1
Hydrolethalus syndrome 1 1 0 0 0 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 1 0 0 0 0 1
Intellectual disability and seizures 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 14 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 0 1
Juvenile myelomonocytic leukemia; CBL-related disorder 1 0 0 0 0 0 1
Kabuki syndrome 1 1 0 0 0 0 0 1
Koolen-de Vries syndrome 1 0 0 0 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 0 0 0 1
Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 0 1 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 0 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 1 0 0 0 0 0 1
Microphthalmia, syndromic 1; Ogden syndrome 1 0 0 0 0 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 1 0 0 0 0 0 1
Mitochondrial complex 1 deficiency, nuclear type 21 0 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 1 0 0 0 0 0 1
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 1 0 0 0 0 0 1
Periventricular nodular heterotopia 7 0 0 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 0 0 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 1 0 0 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 1 0 0 0 0 0 1
Precursor B-cell acute lymphoblastic leukemia; Myeloproliferative disorder; Eosinophilia 0 1 0 0 0 0 1
Rett syndrome, congenital variant 0 1 0 0 0 0 1
Saldino-Mainzer syndrome; Retinitis pigmentosa 80 1 0 0 0 0 0 1
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 1 0 0 0 0 0 1
Smith-Magenis syndrome 1 0 0 0 0 0 1
Spastic paraplegia 52, autosomal recessive 1 0 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 0 0 1
Timothy syndrome; Brugada syndrome 3 0 1 0 0 0 0 1
Torsion dystonia 4; Hypomyelinating leukodystrophy 6 1 0 0 0 0 0 1
Townes-Brocks syndrome 1 1 0 0 0 0 0 1
Transposition of the great arteries, dextro-looped; Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 0 0 1
Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot 0 1 0 0 0 0 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type 0 0 1 0 0 0 1
ZTTK syndrome 1 0 0 0 0 0 1
epithelioid tumor of the omentum 0 0 0 0 0 1 1
spinal cord mass 0 0 0 0 0 1 1

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