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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
(R435fs +1 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
Deletion
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic
MSH6
(R118fs +1 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 5
+4 more
GPathogenic/Likely pathogenic
MSH6
(V166fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
MSH6
(A192fs +2 more)
Deletion
(frameshift variant)
Endometrial carcinoma
GPathogenic
MSH6
(R482* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(L585P +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
MSH6
Deletion
(nonsense)
Lynch syndrome
GPathogenic
MSH6
(L591fs +2 more)
Microsatellite
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic/Likely pathogenic
MSH6
(F1088fs +2 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(F958fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
MSH6
(L1030* +14 more)
Single nucleotide variant
(nonsense)
Endometrial carcinoma
GPathogenic
BARD1
(Q564* +3 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
MLH1
(T117M +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(R226Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
GPathogenic
MLH1
Single nucleotide variant
(splice donor variant +1 more)
Lynch syndrome
GPathogenic
MLH1
(T137fs +5 more)
Duplication
(frameshift variant)
Endometrial carcinoma
GPathogenic
MLH1
(R399fs +5 more)
Duplication
(frameshift variant)
Lynch syndrome
GPathogenic
ATM
(Q201*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
ATM
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
OOncogenic
ATM
(Q1084*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+1 more
GPathogenic
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
(R1699W +78 more)
Single nucleotide variant
(missense 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
(Q563* +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
RAD51C
(R168*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group O
+3 more
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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