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Links from MedGen

Items: 1 to 100 of 156

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(S44R)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+2 more
GUncertain significance
CHEK2
(T45K)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+2 more
GUncertain significance
CHEK2
(Q115fs +3 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
+2 more
GLikely pathogenic
CHEK2
(E501Q +4 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+2 more
GUncertain significance
CHEK2
(A507fs +4 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
+2 more
GLikely pathogenic
CHEK2
(E100fs +3 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
GPathogenic
CHEK2
(I160K +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome 2
GUncertain significance
CHEK2
Single nucleotide variant
(splice acceptor variant +1 more)
Familial prostate cancer
+3 more
GLikely pathogenic
CHEK2
(H215D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+2 more
GUncertain significance
CHEK2
(Q100H)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
GUncertain significance
CHEK2
Deletion
(splice donor variant)
Li-Fraumeni syndrome 2
+1 more
GLikely pathogenic
CHEK2
(W114* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
(E172V +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(T175fs +3 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
+1 more
GPathogenic
CHEK2
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
CHEK2
(P199T +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(S7N +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
CHEK2
(M222K +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
CHEK2
(G239V +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(E345G +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CHEK2
(V402E +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(Q11*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
CHEK2
(I251del +3 more)
Microsatellite
(inframe_deletion)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
(S399P +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
(S228C +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(R144W)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(Y113* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
CHEK2
(K253* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(Q34*)
Single nucleotide variant
(nonsense +1 more)
Li-Fraumeni syndrome 2
+4 more
GPathogenic/Likely pathogenic
CHEK2
(I366N +4 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
CHEK2
(K289I +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
Li-Fraumeni syndrome 2
+4 more
GLikely pathogenic
CHEK2
Deletion
(nonsense)
Familial cancer of breast
+4 more
GPathogenic/Likely pathogenic
CHEK2
(I146L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
(Q439E +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(Q78*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
CHEK2
(Y139* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+8 more
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GPathogenic/Likely pathogenic
CHEK2
(K312E +3 more)
Single nucleotide variant
(missense variant)
Familial prostate cancer
+5 more
GUncertain significance
CHEK2
(K494N +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
CHEK2
(K325E +3 more)
Single nucleotide variant
(missense variant)
Familial prostate cancer
+5 more
GUncertain significance
CHEK2
(T323P +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
not provided
+5 more
GUncertain significance
CHEK2
(S55F)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+7 more
GUncertain significance
CHEK2
(P471L +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
CHEK2
(V313M +3 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
CHEK2
(D461E +4 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
CHEK2
(D361H +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(R3L)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(A230P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 2
+3 more
GConflicting classifications of pathogenicity
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
CHEK2
(G229D +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+7 more
GBenign/Likely benign
CHEK2
(A237V +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
+2 more
GLikely pathogenic
OLikely oncogenic
CHEK2
(G307E +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(E359G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
CHEK2
(I160V +1 more)
Single nucleotide variant
(missense variant +2 more)
Li-Fraumeni syndrome 2
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(E321A +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(D296Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+4 more
GUncertain significance
CHEK2
(A453P +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
CHEK2
(M381L +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CHEK2
(V399I +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
(T45M)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GUncertain significance
CHEK2
(E360K +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
CHEK2
(C284Y +3 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
CHEK2
(H345Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
CHEK2
(N186S +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+7 more
GUncertain significance
CHEK2
Deletion
(splice donor variant)
Familial cancer of breast
+7 more
GPathogenic/Likely pathogenic
CHEK2
(I248V +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice acceptor variant +1 more)
Li-Fraumeni syndrome 2
+5 more
GPathogenic/Likely pathogenic
CHEK2
(P182T +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
CHEK2
(W93fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
CHEK2
(K141T +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+6 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
not provided
+6 more
GUncertain significance
CHEK2
(I364T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
CHEK2
(Y159H +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
CHEK2
(Q11P)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GUncertain significance
CHEK2
(L301fs +3 more)
Deletion
(frameshift variant)
Familial cancer of breast
+6 more
GPathogenic/Likely pathogenic
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)
CHEK2-related cancer predisposition
+8 more
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
not provided
+4 more
GUncertain significance
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)
not provided
+6 more
GPathogenic/Likely pathogenic
CHEK2
(A230V +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
CHEK2
(T168I +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+2 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+8 more
GPathogenic/Likely pathogenic
CHEK2
(R406C +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
CHEK2
(G167R +1 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+9 more
GPathogenic/Likely pathogenic
CHEK2
(E504Q +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer
+7 more
GConflicting classifications of pathogenicity
CHEK2
(L236P +3 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+7 more
GLikely pathogenic
CHEK2
(E528K +4 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
CHEK2
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+8 more
GPathogenic/Likely pathogenic
CHEK2
(D311N +3 more)
Single nucleotide variant
(missense variant)
Bone osteosarcoma
+7 more
GConflicting classifications of pathogenicity
CHEK2
(R346C +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GUncertain significance
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