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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(R302fs +4 more)
Deletion
(frameshift variant)
not provided
+2 more
GUncertain significance
CHEK2
(R519* +4 more)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+6 more
GPathogenic/Likely pathogenic
CHEK2
Deletion
(splice acceptor variant)
not provided
+2 more
GLikely pathogenic
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
CHEK2
(R474H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
CHEK2
(N446D +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+8 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
CHEK2
(W411* +4 more)
Single nucleotide variant
(nonsense)
Breast and/or ovarian cancer
+4 more
GPathogenic/Likely pathogenic
CHEK2
(A392V +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CHEK2
(K373E +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
Deletion
(splice acceptor variant +1 more)
Familial cancer of breast
GPathogenic
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(G239V +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
Deletion
(splice donor variant)
Hereditary breast ovarian cancer syndrome
+5 more
GPathogenic/Likely pathogenic
CHEK2
(E239K +3 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
CHEK2
(L226P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHEK2
(N186H +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+7 more
GConflicting classifications of pathogenicity
CHEK2
(R181C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+3 more
GUncertain significance
CHEK2
(R180H +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CHEK2
(N171fs +1 more)
Indel
(frameshift variant +2 more)
Familial cancer of breast
GLikely pathogenic
CHEK2
(G167R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+7 more
GPathogenic/Likely pathogenic
CHEK2
(E161del +1 more)
Microsatellite
(inframe_deletion +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
(E149K +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
Inherited breast cancer and ovarian cancer
+12 more
GPathogenic/Likely pathogenic
CHEK2
(R145W +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+6 more
GLikely pathogenic
CHEK2
(K141T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
(W114* +1 more)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
CHEK2
(C108R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
CHEK2
(W93fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+5 more
GPathogenic
CHEK2
Microsatellite
(inframe_deletion +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
CHEK2
Deletion
Familial cancer of breast
GPathogenic
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