ClinVar Miner

Variants from Molecular Medicine, University of Pavia

Location: Italy  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 not provided total
14 18 11 0 0 1 44

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
ESAM 0 4 0 0 4
PAX6 2 2 0 0 4
NHS 2 0 1 0 3
BCOR 2 0 0 0 2
COL4A1 0 1 1 0 2
CPAMD8 0 1 1 0 2
CRYBA4, CRYBB1 0 0 2 0 2
CRYGD, LOC100507443 0 1 1 0 2
GJA8 0 1 1 0 2
MAF 0 2 0 0 2
TDRD7 1 0 1 0 2
ALKAL1, RB1CC1 0 0 0 1 1
CRYAA 1 0 0 0 1
CRYBA1 0 1 0 0 1
CRYGA 0 0 1 0 1
CWC27 1 0 0 0 1
FOXE3, LINC01389 0 1 0 0 1
IFIH1 0 1 0 0 1
JAM3 0 1 0 0 1
KIF1A 1 0 0 0 1
NDP 1 0 0 0 1
OCRL 0 0 1 0 1
PDE6B 0 0 1 0 1
RAB3GAP1 1 0 0 0 1
SPTAN1 0 1 0 0 1
TBX6 1 0 0 0 1
TDP2 1 0 0 0 1
WDR91 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance not provided total
See cases 0 5 1 0 6
Irido-corneo-trabecular dysgenesis 2 2 0 0 4
Anterior segment dysgenesis 8 0 1 1 0 2
Brain small vessel disease 1 with or without ocular anomalies 0 1 1 0 2
Cataract 1 multiple types 0 1 1 0 2
Cataract 17 multiple types 0 0 2 0 2
Cataract 21 multiple types 0 2 0 0 2
Cataract 36 1 0 1 0 2
Cataract 4 multiple types 0 1 1 0 2
Cataract 40 1 0 1 0 2
Oculofaciocardiodental syndrome 2 0 0 0 2
Atrophia bulborum hereditaria 1 0 0 0 1
Cataract 10 multiple types 0 1 0 0 1
Cataract 34 multiple types 0 1 0 0 1
Cataract 9 multiple types 1 0 0 0 1
Cerebellar ataxia 1 0 0 0 1
Developmental and epileptic encephalopathy, 5 0 1 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 0 1
Lowe syndrome 0 0 1 0 1
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 1 0 0 0 1
Nance-Horan syndrome 1 0 0 0 1
Porencephaly-microcephaly-bilateral congenital cataract syndrome 0 1 0 0 1
Retinitis pigmentosa 40 0 0 1 0 1
Schizophrenia 0 0 0 1 1
Singleton-Merten syndrome 1 0 1 0 0 1
Spondylocostal dysostosis 5 1 0 0 0 1
Warburg micro syndrome 1 1 0 0 0 1

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