ClinVar Miner

Variants from Provincial Medical Genetics Program of British Columbia, University of British Columbia

Location: Canada  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
55 55 29 0 1 139

Gene and significance breakdown #

Total genes and gene combinations: 115
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ANKRD11 2 2 0 0 4
CHD7 3 0 0 0 3
ALDOB 2 0 0 0 2
ATP7B 2 0 0 0 2
CEP290 0 0 2 0 2
CREBBP 1 1 0 0 2
CYP21A2, LOC106780800 2 0 0 0 2
EXOSC3 1 1 0 0 2
FECH 2 0 0 0 2
FOXP1 1 1 0 0 2
KDM6B, LOC121587574 0 2 0 0 2
KLHL40 1 1 0 0 2
KMT2D 2 0 0 0 2
LAMA1 1 1 0 0 2
LDLR 2 0 0 0 2
MBOAT7 0 0 2 0 2
MYH3 0 0 2 0 2
NTRK1 0 1 1 0 2
SETD5 1 1 0 0 2
TLK2 0 1 1 0 2
TRAPPC12 0 0 2 0 2
UBR1 0 1 1 0 2
ABCA2 0 1 0 0 1
ASXL3 0 1 0 0 1
ATAD3A 1 0 0 0 1
ATL1 1 0 0 0 1
BICD2 0 1 0 0 1
BLTP1 0 0 1 0 1
CBL 1 0 0 0 1
CCDC22 0 0 1 0 1
CCDST, FLG 1 0 0 0 1
CHD4 0 1 0 0 1
CLTC 1 0 0 0 1
COL11A1 0 0 1 0 1
COL1A2 0 1 0 0 1
COL4A1 0 1 0 0 1
COL4A2 0 0 1 0 1
COL6A1 0 0 1 0 1
CSNK2B 0 1 0 0 1
CUL3 0 1 0 0 1
DMD, FTHL17 0 0 0 1 1
DYNC1H1, LOC126862060 0 0 1 0 1
ETFB 1 0 0 0 1
EYA1 0 0 1 0 1
FBN1 0 1 0 0 1
FBXO11 0 1 0 0 1
FLG 1 0 0 0 1
FLNB 0 0 1 0 1
GABRA1 1 0 0 0 1
GJA3 0 1 0 0 1
GPC3 0 1 0 0 1
GPR143 1 0 0 0 1
GRIA3 0 1 0 0 1
H1-4 0 1 0 0 1
HCN1 0 1 0 0 1
HNRNPK 0 0 1 0 1
HRAS, LRRC56 1 0 0 0 1
INSL6, JAK2 1 0 0 0 1
KIF1A 1 0 0 0 1
KMT2A 0 1 0 0 1
KRIT1 0 1 0 0 1
L1CAM 0 1 0 0 1
LMNB1 1 0 0 0 1
LOC126860794, NOTCH1 0 1 0 0 1
MECP2 1 0 0 0 1
MED12 0 1 0 0 1
MFN2 0 1 0 0 1
MVP-DT, PRRT2 0 1 0 0 1
MYH6 0 0 1 0 1
MYH7 0 1 0 0 1
MYRF 0 1 0 0 1
NF1 1 0 0 0 1
NF2 0 1 0 0 1
NIPBL 0 1 0 0 1
NOTCH1 1 0 0 0 1
NSD1 0 1 0 0 1
OFD1 1 0 0 0 1
PACS1 0 1 0 0 1
PHF21A 0 1 0 0 1
PIK3CD 1 0 0 0 1
PKD1 0 0 1 0 1
POGZ 1 0 0 0 1
POLR2A 0 0 1 0 1
PPT1 0 1 0 0 1
PQBP1 0 0 1 0 1
PROS1 1 0 0 0 1
PRUNE1 1 0 0 0 1
PTEN 1 0 0 0 1
PTPN11 1 0 0 0 1
PUF60 0 1 0 0 1
RAI1 0 0 1 0 1
RORA 0 0 1 0 1
SCN2A 0 1 0 0 1
SCN5A 0 0 1 0 1
SLC2A10 0 1 0 0 1
SLC6A1 0 0 1 0 1
SLC9A6 0 1 0 0 1
SMAD4 1 0 0 0 1
SON 0 1 0 0 1
SOS1 1 0 0 0 1
SOX5 1 0 0 0 1
SOX9 1 0 0 0 1
STK11 1 0 0 0 1
SYNGAP1 0 1 0 0 1
TCF12 0 1 0 0 1
THOC2 0 1 0 0 1
THRB 1 0 0 0 1
TRIO 0 0 1 0 1
TSEN54 1 0 0 0 1
TTN 1 0 0 0 1
TUBB3 0 1 0 0 1
USP9X 0 1 0 0 1
ZC4H2 0 1 0 0 1
ZIC3 1 0 0 0 1
ZMYND11 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 113
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance benign total
KBG syndrome 2 2 0 0 4
CHARGE association 3 0 0 0 3
Abnormal cardiovascular system morphology 1 1 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 1 1 0 0 2
Bardet-Biedl syndrome 14 0 0 2 0 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 0 0 0 2
Contractures, pterygia, and variable skeletal fusions syndrome 1B 0 0 2 0 2
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 0 2 0 2
Hereditary fructosuria 2 0 0 0 2
Hereditary insensitivity to pain with anhidrosis 0 1 1 0 2
Hypercholesterolemia, familial, 1 2 0 0 0 2
Ichthyosis vulgaris 2 0 0 0 2
Intellectual disability, autosomal dominant 57 0 1 1 0 2
Intellectual disability, autosomal recessive 57 0 0 2 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1 0 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 1 0 0 2
Johanson-Blizzard syndrome 0 1 1 0 2
Kabuki syndrome 1 2 0 0 0 2
Nemaline myopathy 8 1 1 0 0 2
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 2 0 0 2
Pontocerebellar hypoplasia type 1B 1 1 0 0 2
Protoporphyria, erythropoietic, 1 2 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 1 1 0 0 2
Wilson disease 2 0 0 0 2
8q24.3 microdeletion syndrome 0 1 0 0 1
Acquired polycythemia vera 1 0 0 0 1
Alkuraya-Kucinskas syndrome 0 0 1 0 1
Aortic valve disease 1 0 1 0 0 1
Arterial tortuosity syndrome 0 1 0 0 1
Au-Kline syndrome 0 0 1 0 1
Bethlem myopathy 1A 0 0 1 0 1
Blepharophimosis - intellectual disability syndrome, MKB type 0 1 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 1
Branchiootorenal syndrome 1 0 0 1 0 1
CBL-related disorder 1 0 0 0 1
Camptomelic dysplasia 1 0 0 0 1
Cardiac-urogenital syndrome 0 1 0 0 1
Cataract 14 multiple types 0 1 0 0 1
Cerebral cavernous malformation 0 1 0 0 1
Christianson syndrome 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 0 1
Cornelia de Lange syndrome 1 0 1 0 0 1
Costello syndrome 1 0 0 0 1
Cowden syndrome 1 1 0 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 1
Developmental and epileptic encephalopathy, 19 1 0 0 0 1
Developmental and epileptic encephalopathy, 24 0 1 0 0 1
Dilated cardiomyopathy 1E 0 0 1 0 1
Dilated cardiomyopathy 1EE 0 0 1 0 1
Dilated cardiomyopathy 1G 1 0 0 0 1
Dilated cardiomyopathy 1S 0 1 0 0 1
Duchenne muscular dystrophy 0 0 0 1 1
Harel-Yoon syndrome 1 0 0 0 1
Hereditary spastic paraplegia 30 1 0 0 0 1
Hereditary spastic paraplegia 3A 1 0 0 0 1
Heterotaxy, visceral, 1, X-linked 1 0 0 0 1
Immunodeficiency 14 1 0 0 0 1
Infantile convulsions and choreoathetosis 0 1 0 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 1 0 0 1
Intellectual disability 0 1 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 0 0 1
Intellectual disability, autosomal dominant 13 0 0 1 0 1
Intellectual disability, autosomal dominant 30 0 1 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 0 1
Intellectual disability, autosomal dominant 56 1 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 1
Lamb-Shaffer syndrome 1 0 0 0 1
Larsen syndrome 0 0 1 0 1
MASA syndrome 0 1 0 0 1
Marfan syndrome 0 1 0 0 1
Microcephaly 26, primary, autosomal dominant 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 1 0 1
Multiple acyl-CoA dehydrogenase deficiency 1 0 0 0 1
Multiple system atrophy, cerebellar type 0 1 0 0 1
Myhre syndrome 1 0 0 0 1
Myoclonic-astatic epilepsy 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 1 0 0 0 1
Neurofibromatosis, type 1 1 0 0 0 1
Neurofibromatosis, type 2 0 1 0 0 1
Neuronal ceroid lipofuscinosis 1 0 1 0 0 1
Noonan syndrome 1 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 1
Ocular albinism, type I 1 0 0 0 1
Orofaciodigital syndrome I 1 0 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 0 1
Peutz-Jeghers syndrome 1 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 1
Polycystic kidney disease, adult type 0 0 1 0 1
Pontocerebellar hypoplasia type 4 1 0 0 0 1
Porencephaly 2 0 0 1 0 1
Rahman syndrome 0 1 0 0 1
Renpenning syndrome 0 0 1 0 1
Rett syndrome 1 0 0 0 1
Ritscher-Schinzel syndrome 2 0 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Simpson-Golabi-Behmel syndrome type 1 0 1 0 0 1
Smith-Magenis syndrome 0 0 1 0 1
Sotos syndrome 0 1 0 0 1
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 0 1 0 0 1
Stickler syndrome type 2 0 0 1 0 1
Syndromic X-linked intellectual disability 94 0 1 0 0 1
TCF12-related craniosynostosis 0 1 0 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 1 0 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 1 0 0 0 1
Wieacker-Wolff syndrome, female-restricted 0 1 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 1 0 0 1
ZTTK syndrome 0 1 0 0 1

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