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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(R245H +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GPathogenic/Likely pathogenic
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
Aplastic anemia
+7 more
GPathogenic
ATM
Deletion
(nonsense)
ATM-related cancer predisposition syndrome
+6 more
GPathogenic
ATM, C11orf65
(R2032K)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
BRCA2
(A1327fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N1784fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(P1819S)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
MLH3
(A1012T)
Single nucleotide variant
(missense variant)
Breast carcinoma
GUncertain significance
PALB2
(T533A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
Deletion
(frameshift variant)
not specified
+11 more
GPathogenic
BRCA1
(A1669S +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast and/or ovarian cancer
+7 more
GConflicting classifications of pathogenicity
BRCA1
(Q563* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C61G +1 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
RAD51C
(R237*)
Single nucleotide variant
(nonsense +1 more)
Fanconi anemia complementation group O
+4 more
GPathogenic
BRIP1
(R419W)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
BRIP1
(G344E)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
STK11
(K403R)
Single nucleotide variant
(missense variant)
STK11-related disorder
+4 more
GConflicting classifications of pathogenicity
STK11
(R409W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
not provided
+19 more
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Colorectal cancer
+11 more
GPathogenic/Likely pathogenic
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