ClinVar Miner

Variants from Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada

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

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
319 139 0 0 0 458

Gene and significance breakdown #

Total genes and gene combinations: 138
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Gene or gene combination pathogenic likely pathogenic total
COL1A1 89 17 106
COL1A2 78 2 80
COMP 6 7 13
FBN1 7 5 12
COL2A1 8 2 10
DMD 8 1 9
EXT1 6 3 9
COL1A1, LOC126862586 7 1 8
FKBP10 5 3 8
PHEX 5 3 8
PHEX, PTCHD1 3 5 8
NF1 5 2 7
ALPL 5 1 6
EXT2 5 1 6
FGFR3 4 0 4
MFN2 3 1 4
RUNX2 4 0 4
RYR1 2 2 4
TRPV4 4 0 4
COL6A1 2 1 3
COL9A2 1 2 3
CTSK 2 1 3
FLNB 2 1 3
GALNS 2 1 3
LMX1B 3 0 3
LRP5 1 2 3
SERPINF1 2 1 3
SPTAN1 1 2 3
WNT1 0 3 3
CYP27B1 2 0 2
FBN2 0 2 2
IRF6 0 2 2
LOC130059892, SERPINF1 1 1 2
MATN3 1 1 2
MORC2 0 2 2
PLS3 1 1 2
PTPN11 1 1 2
ZC4H2 0 2 2
ACAN 0 1 1
ALX4 1 0 1
ANKRD11 0 1 1
BCL11B 0 1 1
BCOR 0 1 1
BMP1 0 1 1
CANT1 0 1 1
CASR 0 1 1
CCDC107, RMRP 1 0 1
CCN6 1 0 1
CHD4 0 1 1
CHRNG 1 0 1
CHRNG, TIGD1 0 1 1
CHST3 0 1 1
CIC 0 1 1
CLCN7 1 0 1
COL10A1, NT5DC1 0 1 1
COL11A1 0 1 1
COL12A1 1 0 1
COL5A1 0 1 1
COL5A2 1 0 1
COL6A2 1 0 1
COL9A1 1 0 1
CYP2R1, PDE3B 1 0 1
DYM 1 0 1
DYNC1H1 0 1 1
DYNC2H1 0 1 1
ECEL1 0 1 1
ENPP1 0 1 1
EP300 1 0 1
FBN1, LOC113939944 1 0 1
FGFR1 1 0 1
GCH1 0 1 1
GDAP1 1 0 1
GDF5 0 1 1
GH-LCR, SCN4A 0 1 1
GJB1 0 1 1
GJB2 1 0 1
GNS 1 0 1
GORAB 1 0 1
GRIK2 1 0 1
HCN1 0 1 1
HRAS, LRRC56 1 0 1
HSPG2 0 1 1
IDS, LOC106050102 0 1 1
IFITM5, PGGHG 1 0 1
INPPL1 0 1 1
ITPR1 1 0 1
KCNJ11 0 1 1
KDELR2 0 1 1
KIF22 1 0 1
KMT2B 0 1 1
KMT5B 0 1 1
KRIT1 1 0 1
LAMA2 0 1 1
LEMD3 1 0 1
LGI3 1 0 1
LMNA 0 1 1
LOC123493284, NPR3 0 1 1
LOC130057352, SMAD3 0 1 1
MPZ 1 0 1
MYBPC3 1 0 1
MYH3 0 1 1
NOTCH2 0 1 1
NPR2, SPAG8 0 1 1
OCRL 1 0 1
P3H1 1 0 1
PIEZO2 0 1 1
PITX1 0 1 1
PMP22 0 1 1
POMT1 0 1 1
PPIB, SNX22 0 1 1
PTCH1 0 1 1
RMRP 0 1 1
RPL13 1 0 1
SALL4 1 0 1
SATB2 1 0 1
SEC24D 0 1 1
SFRP4 1 0 1
SLC26A2 0 1 1
SMS 0 1 1
SOX6 1 0 1
SPAST 0 1 1
TBX4 1 0 1
TBX5 1 0 1
TCF20 0 1 1
TG 0 1 1
TGFB1 1 0 1
TGFBR2 0 1 1
TNNT3 0 1 1
TNXB 0 1 1
TP63 1 0 1
TRIP4 0 1 1
TRPS1 1 0 1
TTN 0 1 1
TUBB3 1 0 1
TUBB4A 1 0 1
UBA2 0 1 1
UFSP2 0 1 1
WDR73 1 0 1

Condition and significance breakdown #

Total conditions: 152
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Condition pathogenic likely pathogenic total
Osteogenesis imperfecta type I 89 5 94
Osteogenesis imperfecta with normal sclerae, dominant form 55 6 61
Osteogenesis imperfecta type III 29 11 40
Familial X-linked hypophosphatemic vitamin D refractory rickets 8 8 16
Marfan syndrome 8 5 13
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 5 5 10
Duchenne muscular dystrophy 8 1 9
Exostoses, multiple, type 1 5 3 8
Bruck syndrome 1 3 3 6
Exostoses, multiple, type 2 5 1 6
Neurofibromatosis, type 1 5 1 6
Adult hypophosphatasia 4 1 5
Osteogenesis imperfecta type 6 3 2 5
Spondyloepiphyseal dysplasia congenita 5 0 5
Cleidocranial dysostosis 4 0 4
Multiple epiphyseal dysplasia type 1 1 3 4
Bethlem myopathy 1A 2 1 3
Central core myopathy 2 1 3
Epiphyseal dysplasia, multiple, 2 1 2 3
Hypochondroplasia 3 0 3
Larsen syndrome 2 1 3
Mucopolysaccharidosis, MPS-IV-A 2 1 3
Nail-patella syndrome 3 0 3
Neuronopathy, distal hereditary motor, autosomal dominant 11 1 2 3
Osteogenesis imperfecta type 15 0 3 3
Pyknodysostosis 2 1 3
Autosomal dominant osteopetrosis 1 0 2 2
Autosomal dominant popliteal pterygium syndrome 0 2 2
Autosomal recessive multiple pterygium syndrome 1 1 2
Bone mineral density quantitative trait locus 18 1 1 2
Charcot-Marie-Tooth disease type 2A2 1 1 2
Congenital contractural arachnodactyly 0 2 2
Metaphyseal chondrodysplasia, McKusick type 1 1 2
Neurofibromatosis-Noonan syndrome 1 1 2
Neuropathy, hereditary motor and sensory, type 6A 2 0 2
Osteogenesis imperfecta type 11 2 0 2
Spondylometaphyseal dysplasia, Kozlowski type 2 0 2
Vitamin D-dependent rickets, type 1A 2 0 2
ACCES syndrome 0 1 1
Achondroplasia 1 0 1
Aneurysm-osteoarthritis syndrome 0 1 1
Arterial calcification, generalized, of infancy, 1 0 1 1
Arthrogryposis, distal, type 2B2 0 1 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 1 1
Asphyxiating thoracic dystrophy 3 0 1 1
Autosomal dominant osteopetrosis 2 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2K 0 1 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 1
Basal cell nevus syndrome 1 0 1 1
Bethlem myopathy 1B 1 0 1
Bethlem myopathy 2 1 0 1
Boudin-Mortier syndrome 0 1 1
Brachydactyly type C 0 1 1
Camurati-Engelmann disease type 1 1 0 1
Cerebral cavernous malformation 1 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 1
Charcot-Marie-Tooth disease axonal type 2C 1 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 1 1
Charcot-Marie-Tooth disease axonal type 2Z 0 1 1
Charcot-Marie-Tooth disease recessive intermediate A 1 0 1
Charcot-Marie-Tooth disease type 4A 1 0 1
Charcot-Marie-Tooth disease, type IA 0 1 1
Childhood hypophosphatasia 1 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 1
Clubfoot 0 1 1
Cole-Carpenter syndrome 2 0 1 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 1 0 1
Congenital myasthenic syndrome 16 0 1 1
Costello syndrome 1 0 1
Coxopodopatellar syndrome 1 0 1
Craniosynostosis 5, susceptibility to 1 0 1
Dermatofibrosis lenticularis disseminata 1 0 1
Developmental and epileptic encephalopathy, 24 0 1 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 0 1 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 1 1
Diastrophic dysplasia 0 1 1
Dilated cardiomyopathy 1G 0 1 1
Distal arthrogryposis type 5D 0 1 1
Duane-radial ray syndrome 1 0 1
Dyggve-Melchior-Clausen syndrome 1 0 1
Dystonia 28, childhood-onset 0 1 1
Dystonia 5 0 1 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 1
Ehlers-Danlos syndrome, arthrochalasia type 1 0 1
Ehlers-Danlos syndrome, classic type, 1 0 1 1
Ehlers-Danlos syndrome, classic type, 2 1 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 1 1
Epiphyseal dysplasia, multiple, 7 0 1 1
Familial hypocalciuric hypercalcemia 1 0 1 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 1 0 1
Freeman-Sheldon syndrome 0 1 1
Galloway-Mowat syndrome 1 1 0 1
Geroderma osteodysplastica 1 0 1
Gillespie syndrome 1 0 1
Hajdu-Cheney syndrome 0 1 1
Hereditary spastic paraplegia 4 0 1 1
Holt-Oram syndrome 1 0 1
Hyperinsulinemic hypoglycemia, familial, 2 0 1 1
Hypomyelinating leukodystrophy 6 1 0 1
Infantile cortical hyperostosis 1 0 1
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 1 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 1 1
Intellectual disability, autosomal dominant 45 0 1 1
Intellectual disability, autosomal dominant 51 0 1 1
Iodotyrosyl coupling defect 0 1 1
KBG syndrome 0 1 1
King Denborough syndrome 0 1 1
Kniest dysplasia 1 0 1
LEOPARD syndrome 1 1 0 1
Left ventricular noncompaction 10 1 0 1
Legg-Calve-Perthes disease 0 1 1
Loeys-Dietz syndrome 2 0 1 1
Lowe syndrome 1 0 1
Merosin deficient congenital muscular dystrophy 0 1 1
Metachondromatosis 0 1 1
Metaphyseal chondrodysplasia, Schmid type 0 1 1
Metatropic dysplasia 1 0 1
Mucopolysaccharidosis, MPS-II 0 1 1
Mucopolysaccharidosis, MPS-III-D 1 0 1
Multiple epiphyseal dysplasia type 5 1 0 1
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 1 0 1
Oculofaciocardiodental syndrome 0 1 1
Opsismodysplasia 0 1 1
Osteogenesis imperfecta type 13 0 1 1
Osteogenesis imperfecta type 5 1 0 1
Osteoporosis with pseudoglioma 1 0 1
Pfeiffer syndrome 1 0 1
Progressive pseudorheumatoid dysplasia 1 0 1
Pyle metaphyseal dysplasia 1 0 1
Roussy-Lévy syndrome 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 1
Schwartz-Jampel syndrome type 1 0 1 1
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 1 1
Short stature with nonspecific skeletal abnormalities 1 0 1 1
Sifrim-Hitz-Weiss syndrome 0 1 1
Spinal muscular atrophy with congenital bone fractures 1 0 1 1
Spondyloepimetaphyseal dysplasia with multiple dislocations 1 0 1
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 1 0 1
Spondyloepimetaphyseal dysplasia, di rocco type 0 1 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 1
Spondyloepiphyseal dysplasia with metatarsal shortening 1 0 1
Stickler syndrome 1 0 1
Stickler syndrome type 1 0 1 1
Stickler syndrome type 2 0 1 1
Stickler syndrome, type 4 1 0 1
Syndromic X-linked intellectual disability Snyder type 0 1 1
Tolchin-Le Caignec syndrome 1 0 1
Trichorhinophalangeal dysplasia type I 1 0 1
Vitamin D hydroxylation-deficient rickets, type 1B 1 0 1
Wieacker-Wolff syndrome 0 1 1
Wieacker-Wolff syndrome, female-restricted 0 1 1

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