ClinVar Miner

Variants from Pediatrics Genetics, Post Graduate Institute of Medical Education and Research

Location: India  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
9 28 5 1 0 43

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
NF1 1 4 0 0 5
ADAMTSL2 0 2 0 0 2
SCN8A 1 0 1 0 2
ABCD1 0 1 0 0 1
ABHD5 1 0 0 0 1
ALAD 0 0 1 0 1
ANTXR2 0 1 0 0 1
ASPM 0 1 0 0 1
CEP63 0 1 0 0 1
CHST14 1 0 0 0 1
CPLANE1 1 0 0 0 1
CSPP1 1 0 0 0 1
CYP1B1 1 0 0 0 1
DOCK7 0 1 0 0 1
EPM2A, EPM2A-DT, LOC129997381 0 1 0 0 1
F5 0 1 0 0 1
GAS8 0 1 0 0 1
GUCY2D 0 1 0 0 1
HSPG2 0 1 0 0 1
HYDIN 0 1 0 0 1
IFT140, LOC105371046 0 1 0 0 1
INPPL1 0 0 1 0 1
KATNIP 0 1 0 0 1
KCNA2 0 1 0 0 1
KIF11 0 1 0 0 1
LMBRD1 0 1 0 0 1
MKS1 0 1 0 0 1
MYEF2, SLC24A5 1 0 0 0 1
NEB 0 0 1 0 1
NPR2 0 1 0 0 1
OCRL 1 0 0 0 1
PCNT 0 1 0 0 1
PKD1L1 0 0 0 1 1
PTPRQ 0 1 0 0 1
SLC6A19 0 1 0 0 1
STXBP1 0 0 1 0 1
VPS13A 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Neurofibromatosis, type 1 1 4 0 0 5
Developmental and epileptic encephalopathy, 13 1 0 1 0 2
Geleophysic dysplasia 1 0 2 0 0 2
Acromesomelic dysplasia 1, Maroteaux type 0 1 0 0 1
Adrenoleukodystrophy 0 1 0 0 1
Anterior segment dysgenesis 6 1 0 0 0 1
Arthrogryposis multiplex congenita 6 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 84A 0 1 0 0 1
Bardet-Biedl syndrome 13 0 1 0 0 1
Chorea-acanthocytosis 0 1 0 0 1
Developmental and epileptic encephalopathy, 32 0 1 0 0 1
Developmental and epileptic encephalopathy, 4 0 0 1 0 1
Ehlers-Danlos syndrome, musculocontractural type 1 0 0 0 1
Fetal akinesia deformation sequence 3 0 1 0 0 1
Heterotaxy, visceral, 8, autosomal 0 0 0 1 1
Hyaline fibromatosis syndrome 0 1 0 0 1
Joubert syndrome 17 1 0 0 0 1
Joubert syndrome 21 1 0 0 0 1
Joubert syndrome 26 0 1 0 0 1
Lafora disease 0 1 0 0 1
Leber congenital amaurosis 1 0 1 0 0 1
Lowe syndrome 1 0 0 0 1
Methylmalonic aciduria and homocystinuria type cblF 0 1 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 0 1
Neutral 1 amino acid transport defect 0 1 0 0 1
Oculocutaneous albinism type 6 1 0 0 0 1
Opsismodysplasia 0 0 1 0 1
Porphobilinogen synthase deficiency 0 0 1 0 1
Primary ciliary dyskinesia 33 0 1 0 0 1
Primary ciliary dyskinesia 5 0 1 0 0 1
Saldino-Mainzer syndrome 0 1 0 0 1
Schwartz-Jampel syndrome 0 1 0 0 1
Seckel syndrome 6 0 1 0 0 1
Thrombophilia due to activated protein C resistance 0 1 0 0 1
Triglyceride storage disease with ichthyosis 1 0 0 0 1

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