U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(E528K +4 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+10 more
GConflicting classifications of pathogenicity
CHEK2
(N446D +4 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-Related Cancer Susceptibility
+11 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
Breast and colorectal cancer, susceptibility to
+12 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele
CHEK2
(Y424H +4 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
CHEK2
(S355fs +4 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
+10 more
GPathogenic/Likely pathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colorectal cancer
+19 more
GPathogenic
CHEK2
(L236P +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
CHEK2
(R181H +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+9 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
Breast and colorectal cancer, susceptibility to
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
Single nucleotide variant
(splice donor variant)
Colorectal cancer
+11 more
GPathogenic/Likely pathogenic
CHEK2
(R145Q +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-Related Cancer Susceptibility
+8 more
GUncertain significance
CHEK2
(R145W +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+6 more
GLikely pathogenic
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+14 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+10 more
GConflicting classifications of pathogenicity
CHEK2
(S53T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination