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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(R519L +4 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
CHEK2
(R474H +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
CHEK2
(Q439E +4 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+2 more
GUncertain significance
CHEK2
(Y390S +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
CHEK2
(E351D +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+3 more
GConflicting classifications of pathogenicity
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
(V313M +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+4 more
GUncertain significance
CHEK2
(D311N +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
CHEK2
(S7N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
CHEK2
(Q20*)
Single nucleotide variant
(nonsense +1 more)
Li-Fraumeni syndrome 2
+3 more
GPathogenic/Likely pathogenic
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