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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(Y165C +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+3 more
GPathogenic/Likely pathogenic
MSH6
(P12T)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH6
(L193fs)
Deletion
(frameshift variant +2 more)
Hereditary nonpolyposis colon cancer
+5 more
GPathogenic/Likely pathogenic
MSH6
(K88* +1 more)
Duplication
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH6
(R240* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH6
(R248* +1 more)
Single nucleotide variant
(nonsense +1 more)
Lynch syndrome
GPathogenic
MSH6
(K115fs +2 more)
Deletion
(frameshift variant)
Endometrial carcinoma
+2 more
GPathogenic/Likely pathogenic
MSH6
(L435P +2 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 5
+4 more
GPathogenic/Likely pathogenic
MSH6
(P591fs +2 more)
Deletion
(frameshift variant)
Hereditary nonpolyposis colon cancer
+5 more
GPathogenic/Likely pathogenic
MSH6
(P289fs +2 more)
Deletion
(frameshift variant)
Hereditary nonpolyposis colon cancer
+4 more
GPathogenic/Likely pathogenic
MSH6
Deletion
(nonsense)
Lynch syndrome 5
+3 more
GPathogenic/Likely pathogenic
MSH6
(F958fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(T1142M +2 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MSH6
(D1041fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(L1028fs +2 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
MSH6
(R1331* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
BARD1
(Q564* +3 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
MSH3
(R454*)
Single nucleotide variant
(nonsense)
Familial adenomatous polyposis 4
+3 more
GPathogenic/Likely pathogenic
MSH3
(R779H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
FGFR2
(S252W +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+13 more
GPathogenic
ATM, C11orf65
(K1964E)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+7 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1982fs)
Deletion
(frameshift variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
(Q1756fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q757fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
CHEK2
Deletion
(splice donor variant)
Hereditary breast ovarian cancer syndrome
+5 more
GPathogenic/Likely pathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Inherited breast cancer and ovarian cancer
+12 more
GPathogenic/Likely pathogenic
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