ClinVar Miner

Variants from Genomic Center, National Cancer Institute

Location: Egypt  Primary collection method: case-control
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
90 22 15 0 0 127

Gene and significance breakdown #

Total genes and gene combinations: 42
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA2 31 14 0 45
CTNNA1 5 4 11 20
BRCA1 5 3 4 12
AMER1 3 0 0 3
DMD 3 0 0 3
APC 2 0 0 2
ARID1A 2 0 0 2
ATM 2 0 0 2
BLM 2 0 0 2
BRCA1, LOC126862571 2 0 0 2
ERBB2 2 0 0 2
IL2 2 0 0 2
ATM, C11orf65 1 0 0 1
CDH1 1 0 0 1
CKS1B, LOC129931529, SHC1 1 0 0 1
CKS1B, SHC1 1 0 0 1
CTNNA3 0 1 0 1
DCC 1 0 0 1
FBXW7 1 0 0 1
FGFR2 1 0 0 1
FZD3 1 0 0 1
IGF2, INS-IGF2 1 0 0 1
IL7R 1 0 0 1
JUN, LOC129930620 1 0 0 1
LOC126862278, RBFOX1 1 0 0 1
MET 1 0 0 1
MLH3 1 0 0 1
MSH2 1 0 0 1
MSH6 1 0 0 1
MUTYH 1 0 0 1
MYO1B 1 0 0 1
PALB2 1 0 0 1
PIK3CA 1 0 0 1
PIK3R1 1 0 0 1
PMS1 1 0 0 1
POLD1 1 0 0 1
POLE 1 0 0 1
RET 1 0 0 1
SLC9A9 1 0 0 1
SMAD4 1 0 0 1
SOX9 1 0 0 1
TCERG1 1 0 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance total
Colorectal cancer 50 2 10 62
Hereditary cancer-predisposing syndrome 18 8 1 27
Familial cancer of breast 16 0 0 16
Polyposis syndrome, hereditary mixed, 1 0 11 4 15
Breast neoplasm 6 0 0 6
Malignant tumor of urinary bladder 0 1 0 1

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