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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
Single nucleotide variant
(3 prime UTR variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CHEK2
(R535H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
(E531* +4 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(R519L +4 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+2 more
GLikely benign
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)
Li-Fraumeni syndrome 2
+10 more
GConflicting classifications of pathogenicity
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+11 more
GConflicting classifications of pathogenicity
CHEK2
(Y424H +4 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
CHEK2
(R406C +4 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CHEK2
(Y390C +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
+19 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
CHEK2
(Q358* +3 more)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+1 more
GPathogenic
CHEK2
(S356L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
(E351D +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+3 more
GConflicting classifications of pathogenicity
CHEK2
(R346C +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+8 more
GUncertain significance
CHEK2
(N341T +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(V335L +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CHEK2
(F107S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+3 more
GLikely pathogenic
CHEK2
(I251F +3 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
CHEK2
(F242fs +1 more)
Deletion
(frameshift variant +2 more)
Familial cancer of breast
+1 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
CHEK2
(N186H +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
CHEK2
(F169L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
Li-Fraumeni syndrome 2
+11 more
GPathogenic/Likely pathogenic
CHEK2
(R145W +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-Related Cancer Susceptibility
+6 more
GLikely pathogenic
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+14 more
GPathogenic/Likely pathogenic
CHEK2
(P80H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(5 prime UTR variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
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