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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BARD1
(D710V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BARD1
(N450K +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+1 more
GUncertain significance
BARD1
(Q164E +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
ATM
(V613L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
ATM, C11orf65
(Y2086F)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(L2452V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ATM, C11orf65
Indel
(missense variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(L2850*)
Single nucleotide variant
(nonsense +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
BRCA2
(R645I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(N2135fs)
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(R2784W)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+11 more
GPathogenic/Likely pathogenic
BRCA2
(N3124I)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
PALB2
(L931R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GUncertain significance
PALB2
(P117T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+2 more
GConflicting classifications of pathogenicity
CDH1
(P825L +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+8 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(D1152N +21 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(E1065fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRIP1
(D1169Y)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+4 more
GUncertain significance
BRIP1
(S624L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
BRIP1
(R162Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
CHEK2
(D490E +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GUncertain significance
CHEK2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+9 more
GConflicting classifications of pathogenicity
CHEK2
(R474H +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
+2 more
GLikely pathogenic
OLikely oncogenic
CHEK2
(I160M +1 more)
Single nucleotide variant
(missense variant +2 more)
CHEK2-related cancer predisposition
+5 more
GConflicting classifications of pathogenicity
CHEK2
(I157T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+14 more
GConflicting classifications of pathogenicity; risk factor
CHEK2
(R117G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+14 more
GPathogenic/Likely pathogenic
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