ClinVar Miner

Variants from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Location: Canada — Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
108 55 5 0 1 169

Gene and significance breakdown #

Total genes and gene combinations: 108
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ARID1B 5 1 0 0 6
ANKRD11 4 1 0 0 5
EP300 1 4 0 0 5
DDX3X 3 1 0 0 4
KMT2D 3 1 0 0 4
AHDC1 2 1 0 0 3
CTNNB1 3 0 0 0 3
MECP2 3 0 0 0 3
SETD5 3 0 0 0 3
SYNGAP1 0 3 0 0 3
ACTB 1 1 0 0 2
ADNP 1 1 0 0 2
ALMS1 2 0 0 0 2
ASH1L 2 0 0 0 2
AUTS2 2 0 0 0 2
BRPF1 1 1 0 0 2
C1QTNF5, MFRP 0 2 0 0 2
CDK13 1 1 0 0 2
CNKSR2 0 2 0 0 2
CWF19L1 0 1 1 0 2
DNMT3A 0 2 0 0 2
DYRK1A 1 1 0 0 2
EBF3 1 1 0 0 2
GJB2 0 0 2 0 2
GRIN1 1 1 0 0 2
KCNQ2 1 1 0 0 2
KIF1A 2 0 0 0 2
NEDD4L 2 0 0 0 2
NR2F1 1 1 0 0 2
PTEN 2 0 0 0 2
PTPN11 2 0 0 0 2
PYCR1 2 0 0 0 2
RAI1 2 0 0 0 2
RPS6KA3 1 1 0 0 2
SCN8A 0 2 0 0 2
SPAST 2 0 0 0 2
STXBP1 2 0 0 0 2
TBCK 0 1 1 0 2
TTC37 1 1 0 0 2
VPS13B 2 0 0 0 2
WRN 1 0 0 1 2
ZFYVE26 0 1 1 0 2
ABCB7 0 1 0 0 1
ALPL 1 0 0 0 1
AP4B1 0 1 0 0 1
APOB 1 0 0 0 1
ASXL1 1 0 0 0 1
BCOR 1 0 0 0 1
BRAF 1 0 0 0 1
CASK 1 0 0 0 1
CBL 1 0 0 0 1
CHD2 0 1 0 0 1
CHD8 0 1 0 0 1
CREBBP 0 1 0 0 1
CTCF 1 0 0 0 1
DUPD1, KAT6B 1 0 0 0 1
EDA 0 1 0 0 1
EHMT1 1 0 0 0 1
FLG 0 1 0 0 1
FOXG1 0 1 0 0 1
FOXP1 1 0 0 0 1
GABRB3 0 1 0 0 1
GATAD2B 1 0 0 0 1
GNAS 1 0 0 0 1
GNB1 1 0 0 0 1
HNRNPU 0 1 0 0 1
ITPR1 1 0 0 0 1
KAT6A 1 0 0 0 1
KAT6B 1 0 0 0 1
KCNA2 1 0 0 0 1
KCNB1 1 0 0 0 1
KDM6A 1 0 0 0 1
KMT5B 1 0 0 0 1
LDLR 0 1 0 0 1
LRP2 1 0 0 0 1
MEIS2 1 0 0 0 1
MYT1L 1 0 0 0 1
NALCN 1 0 0 0 1
NEXMIF 1 0 0 0 1
NF1 1 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 1
OPA1 1 0 0 0 1
PAFAH1B1 1 0 0 0 1
PAK3 0 1 0 0 1
PHF6 0 1 0 0 1
PIK3CA 1 0 0 0 1
PIK3CD 1 0 0 0 1
PIK3R1 1 0 0 0 1
PPM1D 1 0 0 0 1
PQBP1 1 0 0 0 1
PURA 0 1 0 0 1
RYR1 0 1 0 0 1
SACS 1 0 0 0 1
SHANK3 1 0 0 0 1
SMARCB1 0 1 0 0 1
STAG1 0 1 0 0 1
TBL1XR1 1 0 0 0 1
TBR1 0 1 0 0 1
TCF4 1 0 0 0 1
TRIO 1 0 0 0 1
TUBA1A 0 1 0 0 1
TUBB4A 1 0 0 0 1
UBE2A 0 1 0 0 1
USP9X 0 1 0 0 1
WAC 1 0 0 0 1
WDR26 1 0 0 0 1
WNT10A 1 0 0 0 1
ZEB2 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 108
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
not provided 4 4 0 0 8
Coffin-Siris syndrome 1 5 1 0 0 6
KBG syndrome 4 1 0 0 5
Rubinstein-Taybi syndrome 2 1 4 0 0 5
Kabuki syndrome 1 3 1 0 0 4
Mental retardation, X-linked 102 3 1 0 0 4
Mental retardation, autosomal dominant 19 3 0 0 0 3
Mental retardation, autosomal dominant 23 3 0 0 0 3
Mental retardation, autosomal dominant 5 0 3 0 0 3
Neurodevelopmental disorder 2 1 0 0 3
Rett syndrome 3 0 0 0 3
Xia-Gibbs syndrome 2 1 0 0 3
Alstrom syndrome 2 0 0 0 2
Autosomal recessive cutis laxa type 2B 2 0 0 0 2
Baraitser-Winter syndrome 1 1 1 0 0 2
Bosch-Boonstra-Schaaf optic atrophy syndrome 1 1 0 0 2
Coffin-Lowry syndrome 1 1 0 0 2
Cohen syndrome 2 0 0 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 0 0 2
Helsmoortel-van der aa syndrome 1 1 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 1 0 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 2 0 0 0 2
Mental retardation, autosomal dominant 26 2 0 0 0 2
Mental retardation, autosomal dominant 7 1 1 0 0 2
Mental retardation, autosomal dominant 9 2 0 0 0 2
Microphthalmia, isolated 5 0 2 0 0 2
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 1 0 0 2
Nonsyndromic Deafness 0 0 2 0 2
Noonan syndrome 1 2 0 0 0 2
Periventricular nodular heterotopia 7 2 0 0 0 2
Smith-Magenis syndrome 2 0 0 0 2
Spastic paraplegia 15 0 1 1 0 2
Spastic paraplegia 4, autosomal dominant 2 0 0 0 2
Spinocerebellar ataxia, autosomal recessive 17 0 1 1 0 2
Tatton-Brown-rahman syndrome 0 2 0 0 2
Werner syndrome 1 0 0 1 2
22q13.3 deletion syndrome 1 0 0 0 1
Anemia sideroblastic and spinocerebellar ataxia 0 1 0 0 1
Autism, susceptibility to, 18 0 1 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 1 0 0 1
C-like syndrome 1 0 0 0 1
CASK-Related Disorder 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 1 0 0 0 1
Chromosome 9q deletion syndrome 1 0 0 0 1
Cleft palate, cardiac defects, and mental retardation 1 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 0 0 0 1
Cowden syndrome 5 1 0 0 0 1
Desanto-shinawi syndrome 1 0 0 0 1
Donnai Barrow syndrome 1 0 0 0 1
Dysmorphic features; Learning difficulty 0 1 0 0 1
Early infantile epileptic encephalopathy 4 1 0 0 0 1
Early infantile epileptic encephalopathy 7 0 1 0 0 1
Epileptic encephalopathy, childhood-onset 0 1 0 0 1
Epileptic encephalopathy, early infantile, 26 1 0 0 0 1
Epileptic encephalopathy, early infantile, 32 1 0 0 0 1
Epileptic encephalopathy, early infantile, 43 0 1 0 0 1
Familial hypercholesterolemia 0 1 0 0 1
Fitzsimmons-Guilbert syndrome 1 0 0 0 1
GNAS-related disorder 1 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 1
ITPR1-associated cerebellar ataxia spectrum disorder 1 0 0 0 1
Immunodeficiency 14 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 1 0 0 0 1
Intellectual disability 0 1 0 0 1
Intellectual disability, seizures, abnormal gait and distinctive facial features 1 0 0 0 1
KAT6B-Related Spectrum Disorders 1 0 0 0 1
KCNB1-related disorder 1 0 0 0 1
KCNQ2-Related Disorders 1 0 0 0 1
Kabuki syndrome 2 1 0 0 0 1
Leukodystrophy, hypomyelinating, 6 1 0 0 0 1
Lissencephaly 1 1 0 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 0 1 0 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 1 0 0 0 1
Mental retardation 30, X-linked 0 1 0 0 1
Mental retardation with language impairment and with or without autistic features 1 0 0 0 1
Mental retardation, X-linked 98 1 0 0 0 1
Mental retardation, autosomal dominant 15 0 1 0 0 1
Mental retardation, autosomal dominant 18 1 0 0 0 1
Mental retardation, autosomal dominant 21 1 0 0 0 1
Mental retardation, autosomal dominant 31 0 1 0 0 1
Mental retardation, autosomal dominant 32 1 0 0 0 1
Mental retardation, autosomal dominant 39 1 0 0 0 1
Mental retardation, autosomal dominant 42 1 0 0 0 1
Mental retardation, autosomal dominant 44 1 0 0 0 1
Mowat-Wilson syndrome 1 0 0 0 1
Neurofibromatosis, type 1 1 0 0 0 1
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 1 0 0 0 1
Ocular impairment 1 0 0 0 1
Oculofaciocardiodental syndrome 1 0 0 0 1
PTEN hamartoma tumor syndrome 1 0 0 0 1
PTEN-related disorder 1 0 0 0 1
Pitt-Hopkins syndrome 1 0 0 0 1
Renpenning syndrome 1 1 0 0 0 1
Rett syndrome, congenital variant 0 1 0 0 1
Rubinstein-Taybi syndrome 1 0 1 0 0 1
SCN8A-related disorder 0 1 0 0 1
SCN8A-related epileptic disorder 0 1 0 0 1
SHORT syndrome 1 0 0 0 1
STXBP1-associated neurodevelopmental disorder 1 0 0 0 1
Spastic ataxia Charlevoix-Saguenay type 1 0 0 0 1
Spastic paraplegia 47, autosomal recessive 0 1 0 0 1
Syndromic mental retardation, Nascimento type, X-linked 0 1 0 0 1
Tooth agenesis, selective, X-linked, 1 0 1 0 0 1
Tubulinopathy 0 1 0 0 1
X-linked recessive seizure and neurodevelopmental deficit 0 1 0 0 1
Young Simpson syndrome 1 0 0 0 1

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