ClinVar Miner

Variants from Genetic Diagnostic Laboratory,University of Szeged

Location: Hungary — 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
16 4 0 0 0 20

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic total
COL4A5 7 1 8
COL4A3, MFF-DT 4 0 4
COL4A4 3 0 3
XPA 1 1 2
FOXP1 1 0 1
LOC100507346, PTCH1 0 1 1
PTCH1 0 1 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic total
Alport syndrome 1, X-linked recessive 7 1 8
Benign familial hematuria 5 0 5
Alport syndrome, autosomal recessive 2 0 2
Xeroderma pigmentosum, type 1 1 1 2
Gorlin syndrome 0 1 1
Holoprosencephaly 7 0 1 1
Mental retardation with language impairment and with or without autistic features 1 0 1

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