ClinVar Miner

Variants from Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar

Location: Tunisia  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 6 10 4 0 38

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BRCA1 9 0 0 0 9
BRCA2 4 0 0 0 4
ALMS1 0 0 1 1 2
CHEK2 1 1 0 0 2
KANK1 0 0 2 0 2
ABCC8 0 1 0 0 1
ATM, C11orf65 1 0 0 0 1
BBS12 0 0 0 1 1
BLM 1 0 0 0 1
CAPN3 1 0 0 0 1
FASTKD2 0 1 0 0 1
FH 0 1 0 0 1
FOXRED1 0 0 1 0 1
GCKR 0 0 1 0 1
GFM2 0 0 1 0 1
INSR 0 0 1 0 1
KLF11 0 0 0 1 1
LOC126859771, RFX6 0 0 1 0 1
NDUFAF5 0 0 1 0 1
NIPAL4 0 1 0 0 1
PDX1 0 1 0 0 1
PPP1R3A 0 0 0 1 1
TTC8 0 0 1 0 1
WFS1 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Breast-ovarian cancer, familial, susceptibility to, 1 9 0 0 0 9
Breast-ovarian cancer, familial, susceptibility to, 2 4 0 0 0 4
not provided 1 0 2 1 4
Familial cancer of breast 2 1 0 0 3
Alstrom syndrome 0 0 1 1 2
Monogenic diabetes 0 1 0 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 0 1
Bardet-Biedl syndrome 0 0 0 1 1
Bardet-Biedl syndrome 8 0 0 1 0 1
Combined oxidative phosphorylation deficiency 39 0 0 1 0 1
Combined oxidative phosphorylation deficiency 44 0 1 0 0 1
Erythrokeratodermia variabilis et progressiva 1 0 1 0 0 1
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 0 0 1 0 1
Familial cancer of breast; Endometrial carcinoma; Colorectal cancer 1 0 0 0 1
Fumarase deficiency 0 1 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 0 1 0 1
Maturity-onset diabetes of the young 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 16 0 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 19 0 0 1 0 1
Prostate cancer 1 0 0 0 1
not specified 0 0 1 0 1

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