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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(I448S +4 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
CHEK2
(Y445H +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
CHEK2
(R318H +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+9 more
GUncertain significance
CHEK2
(K244R +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
(R145W +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-Related Cancer Susceptibility
+6 more
GLikely pathogenic
CHEK2
(P85L)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
CHEK2
(S53T)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
CHEK2
(Q20*)
Single nucleotide variant
(nonsense +1 more)
Li-Fraumeni syndrome 2
+3 more
GPathogenic/Likely pathogenic
CHEK2
(S5L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
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