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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(A540V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(R523H +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
CHEK2
(R519L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+10 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+3 more
GLikely pathogenic
CHEK2
(T476K +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
Breast and colorectal cancer, susceptibility to
+10 more
GConflicting classifications of pathogenicity
CHEK2
(R474C +4 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CHEK2
(K472R +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHEK2
(D438V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+11 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+12 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele
CHEK2
(W411* +4 more)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
CHEK2
(T168fs +4 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Breast and colorectal cancer, susceptibility to
+19 more
GPathogenic
CHEK2
(E351D +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+3 more
GConflicting classifications of pathogenicity
CHEK2
(L338F +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(M304K +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
(E302D +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GUncertain significance
CHEK2
(L301W +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(L301fs +3 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(splice acceptor variant)
not provided
+6 more
GPathogenic/Likely pathogenic
CHEK2
(A230P +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(R180H +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
CHEK2
(G167R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
CHEK2
(I160M +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
Single nucleotide variant
(splice donor variant)
Breast and colorectal cancer, susceptibility to
+11 more
GPathogenic/Likely pathogenic
CHEK2
(R148G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
CHEK2
(R145P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
Microsatellite
(inframe_deletion +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+10 more
GConflicting classifications of pathogenicity
CHEK2
Deletion
Hereditary cancer-predisposing syndrome
GPathogenic
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