ClinVar Miner

Variants from Uitto Lab,Thomas Jefferson University

Location: United States — 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
18 25 10 0 0 53

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
TGM1 6 5 2 13
ALOX12B 4 4 2 10
PNPLA1 1 4 1 6
ABCA12, SNHG31 0 3 1 4
ALOXE3 2 2 0 4
CYP4F22 0 2 2 4
ABCA12 0 1 2 3
SDR9C7 1 2 0 3
NIPAL4 2 0 0 2
SULT2B1 0 2 0 2
CERS3 1 0 0 1
GJB2 1 0 0 1

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance total
Autosomal recessive congenital ichthyosis 2 6 6 2 14
Autosomal recessive congenital ichthyosis 1 6 5 2 13
Autosomal recessive congenital ichthyosis 4B 0 4 3 7
Autosomal recessive congenital ichthyosis 10 1 4 1 6
Autosomal recessive congenital ichthyosis 5 0 2 2 4
Congenital ichthyosis of skin 1 2 0 3
Autosomal recessive congenital ichthyosis 6 2 0 0 2
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 0 2 0 2
Autosomal recessive congenital ichthyosis 9 1 0 0 1
IFAP syndrome with or without BRESHECK syndrome 1 0 0 1

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