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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(R521W +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(R298G +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CHEK2
(P484T +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+10 more
GConflicting classifications of pathogenicity
CHEK2
(E229D +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(W411C +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHEK2
(A392V +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colorectal cancer
+19 more
GPathogenic
CHEK2
(S356L +3 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
+5 more
GUncertain significance
CHEK2
(V335L +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
(L301fs +3 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
Deletion
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely pathogenic
CHEK2
Deletion
(splice donor variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
CHEK2
(E239* +3 more)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+3 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
CHEK2
(N186S +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(L183F +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
CHEK2
(R181C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CHEK2
(L174F +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(F212fs +1 more)
Deletion
(frameshift variant +2 more)
Colorectal cancer
+3 more
GPathogenic
CHEK2
(E161del +1 more)
Microsatellite
(inframe_deletion +2 more)
Breast and colorectal cancer, susceptibility to
+4 more
GConflicting classifications of pathogenicity
CHEK2
Deletion
(splice acceptor variant +1 more)
Familial cancer of breast
+1 more
GLikely pathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Colorectal cancer
+11 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
CHEK2
(R145W +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+6 more
GLikely pathogenic
CHEK2
(D134H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
(R132S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
CHEK2
(W114C +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
(W93fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+4 more
GPathogenic
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+10 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GUncertain significance
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