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Links from MedGen

Items: 1 to 100 of 101

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(I160K +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome 2
GUncertain significance
CHEK2
(H215D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
GLikely pathogenic
CHEK2
(Q100H)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
GUncertain significance
CHEK2
(W114* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice acceptor variant)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
CHEK2
(P199T +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+6 more
GUncertain significance
CHEK2
(M222K +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CHEK2
(I251del +3 more)
Microsatellite
(inframe_deletion)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Bone osteosarcoma
+5 more
GUncertain significance
CHEK2
(R144W)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GUncertain significance
CHEK2
(Y113* +1 more)
Single nucleotide variant
(nonsense +1 more)
Li-Fraumeni syndrome 2
+3 more
GPathogenic
CHEK2
(K253* +3 more)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
CHEK2
Deletion
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
CHEK2
(I146L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(Q439E +4 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+2 more
GUncertain significance
CHEK2
(Y139* +1 more)
Single nucleotide variant
(nonsense +1 more)
Breast and/or ovarian cancer
+7 more
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Malignant tumor of prostate
+5 more
GPathogenic/Likely pathogenic
CHEK2
(T323P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(P471L +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHEK2
(V313M +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+4 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GConflicting classifications of pathogenicity
CHEK2
(G229D +3 more)
Single nucleotide variant
(missense variant)
Bone osteosarcoma
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+7 more
GBenign/Likely benign
CHEK2
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely pathogenic
CHEK2
(G307E +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(I160V +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(E321A +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
(M381L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
(T45M)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
CHEK2
(E360K +3 more)
Single nucleotide variant
(missense variant +1 more)
Bone osteosarcoma
+5 more
GUncertain significance
CHEK2
(H345Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
CHEK2
Deletion
(splice donor variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
(I248V +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
CHEK2
(W93fs)
Deletion
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
CHEK2
(G342S +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(R137* +1 more)
Single nucleotide variant
(nonsense +1 more)
Congenital heart defects, multiple types, 3
+8 more
GPathogenic
CHEK2
(S57F)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(P393L +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice acceptor variant)
Familial cancer of breast
+6 more
GPathogenic/Likely pathogenic
CHEK2
(T168I +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-Related Cancer Susceptibility
+6 more
GConflicting classifications of pathogenicity
CHEK2
(R406C +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+8 more
GConflicting classifications of pathogenicity
CHEK2
(E504Q +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
CHEK2
(L236P +3 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
CHEK2
(E528K +4 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
+8 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
Prostate cancer, susceptibility to
+8 more
GPathogenic/Likely pathogenic
CHEK2
(D311N +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GUncertain significance
CHEK2
(R346C +3 more)
Single nucleotide variant
(intron variant +1 more)
Familial cancer of breast
+8 more
GUncertain significance
CHEK2
(E351D +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
(T59K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+7 more
GUncertain significance
CHEK2
(N186H +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related condition
+8 more
GConflicting classifications of pathogenicity
CHEK2
(L512V +4 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+5 more
GConflicting classifications of pathogenicity
CHEK2
(Y390S +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
CHEK2
(Y72*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+4 more
GPathogenic
CHEK2
(R145Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
+8 more
GUncertain significance
CHEK2
(A392V +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
CHEK2
(F475I +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+8 more
GConflicting classifications of pathogenicity
CHEK2
(M381V +4 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
+6 more
GUncertain significance
CHEK2
(P484L +4 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
+9 more
GConflicting classifications of pathogenicity
CHEK2
(C243R +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CHEK2
(S252N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+7 more
GConflicting classifications of pathogenicity
CHEK2
(R95*)
Single nucleotide variant
(nonsense +1 more)
Li-Fraumeni syndrome 2
+8 more
GPathogenic
CHEK2
(R318H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+9 more
GUncertain significance
CHEK2
(S53T)
Single nucleotide variant
(missense variant +1 more)
CHEK2-Related Cancer Susceptibility
+7 more
GConflicting classifications of pathogenicity
CHEK2
(Q20*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+6 more
GUncertain significance
CHEK2
(G306A +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CHEK2
(E302D +3 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+8 more
GUncertain significance
CHEK2
(I251F +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+7 more
GUncertain significance
CHEK2
(I189V +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(I160M +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related condition
+6 more
GConflicting classifications of pathogenicity
CHEK2
(I160R +1 more)
Single nucleotide variant
(missense variant +2 more)
Predisposition to cancer
+4 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(splice donor variant)
Melanoma
+11 more
GPathogenic/Likely pathogenic
CHEK2
(D134H +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer
+6 more
GUncertain significance
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+14 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(intron variant)
CHEK2-related condition
+7 more
GConflicting classifications of pathogenicity
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related condition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(R519L +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(R519* +4 more)
Single nucleotide variant
(nonsense)
Breast and/or ovarian cancer
+6 more
GPathogenic/Likely pathogenic
CHEK2
(P509S +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+7 more
GConflicting classifications of pathogenicity
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(R474C +4 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+6 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
(S355fs +4 more)
Deletion
(frameshift variant)
Predisposition to cancer
+10 more
GPathogenic/Likely pathogenic
CHEK2
(N405K +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
CHEK2
(T378I +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+7 more
GConflicting classifications of pathogenicity
CHEK2
(H371Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related condition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
Colorectal cancer
+19 more
GPathogenic
CHEK2
Single nucleotide variant
(5 prime UTR variant)
Bone osteosarcoma
+8 more
GConflicting classifications of pathogenicity
CHEK2
(R474H +4 more)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+4 more
GConflicting classifications of pathogenicity
CHEK2
(N446D +4 more)
Single nucleotide variant
(missense variant)
CHEK2-Related Cancer Susceptibility
+8 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
Breast neoplasm
+12 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele
CHEK2
(E239K +3 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
+9 more
GUncertain significance
CHEK2
(R181H +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-Related Cancer Susceptibility
+9 more
GConflicting classifications of pathogenicity
CHEK2
(F254fs +4 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
CHEK2
(R145W +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-Related Cancer Susceptibility
+6 more
GLikely pathogenic
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