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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-Related Cancer Susceptibility
+5 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CHEK2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-Related Cancer Susceptibility
+11 more
GConflicting classifications of pathogenicity
CHEK2
(Y424H +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+9 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)
Colorectal cancer
+19 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
CHEK2
(E351D +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
(F107S +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CHEK2
(N186H +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related condition
+8 more
GConflicting classifications of pathogenicity
CHEK2
(F169L +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(splice donor variant)
Melanoma
+11 more
GPathogenic/Likely pathogenic
CHEK2
(R137Q +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-Related Cancer Susceptibility
+5 more
GConflicting classifications of pathogenicity
CHEK2
(R137* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital heart defects, multiple types, 3
+8 more
GPathogenic
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+14 more
GPathogenic/Likely pathogenic
CHEK2
(P85L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(synonymous variant +1 more)
CHEK2-Related Cancer Susceptibility
+5 more
GBenign
CHEK2
(P80H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(S39P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(Q27fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CHEK2
(Q20*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
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