ClinVar Miner

Variants from Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences

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
14 21 0 0 0 35

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic total
CLN5 0 4 4
CLN8 2 2 4
CLN6 1 2 3
TPP1 3 0 3
CLN3 1 1 2
KCTD7 0 2 2
PPT1 0 2 2
CCND2 0 1 1
CSF1R 0 1 1
DYSF 1 0 1
GMPPB 1 0 1
LAMC3 1 0 1
LIG4 0 1 1
MFSD8 1 0 1
MRE11 0 1 1
OFD1 0 1 1
PAFAH1B1 1 0 1
SLC52A3 0 1 1
TREM2 1 0 1
TSC1 0 1 1
TUBB2B 1 0 1
WFS1 0 1 1

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic total
Neuronal ceroid lipofuscinosis 5 0 4 4
Neuronal ceroid lipofuscinosis 8 2 2 4
Neuronal ceroid lipofuscinosis 2 3 0 3
Ceroid lipofuscinosis, neuronal, 6A 1 1 2
Neuronal ceroid lipofuscinosis 1 0 2 2
Neuronal ceroid lipofuscinosis 3 1 1 2
Progressive myoclonic epilepsy type 3 0 2 2
Ataxia-telangiectasia-like disorder 1 0 1 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2T 1 0 1
Brown-Vialetto-van Laere syndrome 1 0 1 1
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 0 1 1
Complex cortical dysplasia with other brain malformations 7 1 0 1
DNA ligase IV deficiency 0 1 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 0 1 1
Lissencephaly due to LIS1 mutation 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 1 1
Neuronal ceroid lipofuscinosis 7 1 0 1
Occipital pachygyria and polymicrogyria 1 0 1
Orofaciodigital syndrome I 0 1 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 1 0 1
Tuberous sclerosis 1 0 1 1
Wolfram syndrome 1 0 1 1

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