ClinVar Miner

Variants from Pangenia Genomics, Pangenia Inc.

Location: Hong Kong  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
9 12 12 0 0 33

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PIGA 0 5 2 7
USH2A 1 0 2 3
CEP290 2 0 0 2
CRB1 1 1 0 2
IDUA 0 0 2 2
PMP22 1 0 1 2
SETX 0 1 1 2
SH3TC2 0 1 1 2
ABCA4 1 0 0 1
GJB1 0 1 0 1
GPHN, RDH12 0 0 1 1
LOC122152296, USH2A 1 0 0 1
LOC126860392, RP1 0 1 0 1
MPZ 0 1 0 1
PANK2 0 1 0 1
RLBP1 1 0 0 1
RP1 1 0 0 1
SEMA4A 0 0 1 1
SNRNP200 0 0 1 1

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance total
Paroxysmal nocturnal hemoglobinuria 1 0 5 2 7
Retinitis pigmentosa 39 2 0 2 4
CEP290-Related Disorders 2 0 0 2
Charcot-Marie-Tooth disease type 4C 0 1 1 2
Mucopolysaccharidosis type 1 0 0 2 2
Retinitis pigmentosa 1 1 1 0 2
Retinitis pigmentosa 12 1 1 0 2
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 1 1 2
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 1
Charcot-Marie-Tooth disease type 1B 0 1 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 1
Dejerine-Sottas disease 0 0 1 1
Leber congenital amaurosis 13 0 0 1 1
Pigmentary pallidal degeneration 0 1 0 1
Pigmentary retinal dystrophy 1 0 0 1
Retinitis pigmentosa 19 1 0 0 1
Retinitis pigmentosa 33 0 0 1 1
Retinitis pigmentosa 35 0 0 1 1

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