ClinVar Miner

Variants from Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences

Location: India  Primary collection method: research
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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
34 39 12 0 0 85

Gene and significance breakdown #

Total genes and gene combinations: 62
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
COL2A1 1 6 1 8
ECEL1 2 2 0 4
CHRNG 2 0 1 3
MYO18B 2 1 0 3
CHD7 1 0 1 2
COL12A1 2 0 0 2
MTHFR 2 0 0 2
NEB 0 2 0 2
PIEZO1 1 1 0 2
PORCN 1 1 0 2
RAPSN 1 1 0 2
TP63 0 2 0 2
WNT10B 0 1 1 2
ABCD1 1 0 0 1
ACE 1 0 0 1
ANK1 0 0 1 1
ARCN1 0 0 1 1
ASCC1 1 0 0 1
ATAD3A 0 1 0 1
CASK 1 0 0 1
CCDC8 0 0 1 1
CEP57 1 0 0 1
CFAP53 0 0 1 1
CHD3 1 0 0 1
CHST14 1 0 0 1
CLPB 1 0 0 1
COL1A1 0 1 0 1
DLX5 0 1 0 1
DNM2 0 1 0 1
DYNC1H1 0 1 0 1
ESCO2 1 0 0 1
EVC2 1 0 0 1
FBN2 0 1 0 1
HSD3B2 0 1 0 1
HSPG2 0 1 0 1
HSPG2, LDLRAD2 0 1 0 1
KAT6B 0 0 1 1
LAMA2 1 0 0 1
LIFR 0 1 0 1
LOC102724058, SCN1A 0 1 0 1
LPAR6, RB1 1 0 0 1
MAFB 0 1 0 1
MFN2 0 1 0 1
MYO9A 0 0 1 1
NEB, RIF1 0 1 0 1
NIPBL 0 0 1 1
NR5A1 0 1 0 1
NUP188 0 1 0 1
PKD1L1 1 0 0 1
PLOD3 1 0 0 1
POLA1 1 0 0 1
RBM8A 1 0 0 1
RIPK4 0 0 1 1
ROR2 0 1 0 1
SALL4 1 0 0 1
SETD1A 0 1 0 1
STIM1 0 1 0 1
SUZ12 0 1 0 1
TBX3 1 0 0 1
TBX5 1 0 0 1
TNNI2 0 1 0 1
TOR1A 0 1 0 1

Condition and significance breakdown #

Total conditions: 65
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Condition pathogenic likely pathogenic uncertain significance total
Distal arthrogryposis type 5D 2 2 0 4
Spondyloepimetaphyseal dysplasia, Strudwick type 1 3 0 4
Autosomal recessive multiple pterygium syndrome 2 0 1 3
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2 1 0 3
Nemaline myopathy 2 0 3 0 3
CHARGE association 1 0 1 2
Fetal akinesia deformation sequence 2 1 1 0 2
Focal dermal hypoplasia 1 1 0 2
Lymphatic malformation 6 1 1 0 2
Schwartz-Jampel syndrome type 1 0 2 0 2
Split hand-foot malformation 6 0 1 1 2
Spondyloepiphyseal dysplasia congenita 0 2 0 2
Ullrich congenital muscular dystrophy 2 2 0 0 2
3 beta-Hydroxysteroid dehydrogenase deficiency 0 1 0 1
3M syndrome 3 0 0 1 1
46,XY sex reversal 3 0 1 0 1
Adrenoleukodystrophy 1 0 0 1
Arthrogryposis multiplex congenita 5 0 1 0 1
Autosomal dominant centronuclear myopathy 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 1 0 1
Autosomal recessive Robinow syndrome 0 1 0 1
Avascular necrosis of femoral head, primary, 1 0 1 0 1
Bartsocas-Papas syndrome 1 0 0 1 1
Bone fragility with contractures, arterial rupture, and deafness 1 0 0 1
Charcot-Marie-Tooth disease type 2A2 0 1 0 1
Congenital contractural arachnodactyly 0 1 0 1
Cornelia de Lange syndrome 1 0 0 1 1
Distal arthrogryposis type 2B1 0 1 0 1
Duane-radial ray syndrome 1 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 1 0 1
Ehlers-Danlos syndrome, musculocontractural type 1 1 0 0 1
Ellis-van Creveld syndrome 1 0 0 1
Epilepsy, early-onset, with or without developmental delay 0 1 0 1
Genitopatellar syndrome 0 0 1 1
Global developmental delay; Delayed speech and language development; Mental deterioration; Lower limb spasticity; Bilateral tonic-clonic seizure 1 0 0 1
Global developmental delay; Spasticity; Bilateral tonic-clonic seizure; Secondary microcephaly; Infantile spasms 1 0 0 1
Harel-Yoon syndrome 0 1 0 1
Hereditary spherocytosis type 1 0 0 1 1
Heterotaxy, visceral, 6, autosomal 0 0 1 1
Holt-Oram syndrome 1 0 0 1
Hypotrichosis 8 1 0 0 1
Imagawa-Matsumoto syndrome 0 1 0 1
Merosin deficient congenital muscular dystrophy 1 0 0 1
Mosaic variegated aneuploidy syndrome 2 1 0 0 1
Multicentric carpo-tarsal osteolysis with or without nephropathy 0 1 0 1
Myasthenic syndrome, congenital, 24, presynaptic 0 0 1 1
Neutropenia, severe congenital, 9, autosomal dominant 1 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 1
Renal tubular dysgenesis of genetic origin 1 0 0 1
Roberts-SC phocomelia syndrome 1 0 0 1
Sandestig-stefanova syndrome 0 1 0 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 0 0 1 1
Snijders Blok-Campeau syndrome 1 0 0 1
Spinal muscular atrophy with congenital bone fractures 2 1 0 0 1
Split hand-foot malformation 1 0 1 0 1
Split hand-foot malformation 4 0 1 0 1
Spondyloperipheral dysplasia 0 0 1 1
Stormorken syndrome 0 1 0 1
Stüve-Wiedemann syndrome 1 0 1 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 1
Ulnar-mammary syndrome 1 0 0 1
Visceral heterotaxy; Heterotaxy, visceral, 8, autosomal 1 0 0 1
X-linked intellectual disability, van Esch type 1 0 0 1

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