ClinVar Miner

Variants from Sema4,Sema4

Location: United States — Primary collection method: clinical testing
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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
3 8 1 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
GNE 2 0 1 3
EYS 0 2 0 2
HEXA 1 1 0 2
DNAH5 0 1 0 1
DYSF 0 1 0 1
PEX6 0 1 0 1
USH2A 0 1 0 1
VRK1 0 1 0 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance total
GNE myopathy 2 0 1 3
Retinitis pigmentosa 25 0 2 0 2
Tay-Sachs disease 1 1 0 2
Limb-girdle muscular dystrophy, type 2B 0 1 0 1
Pontocerebellar hypoplasia type 1A 0 1 0 1
Primary Ciliary Dyskinesia (DNAH5-related) 0 1 0 1
Usher syndrome, type 2A 0 1 0 1
Zellweger syndrome spectrum (PEX6-related) 0 1 0 1

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