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Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BARD1
(E587D +3 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BARD1
(C62Y)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
ATM
(I159V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
(P178T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
ATM
(Q201*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
ATM
(R329K)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(K482Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ATM
(E522*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+2 more
GPathogenic
ATM
(L701F)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
ATM
(L895I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
ATM
Single nucleotide variant
(splice acceptor variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(A2346V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
C11orf65, ATM
(G2772R)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(I605fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T1251fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N1747*)
Duplication
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L1908fs)
Microsatellite
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1982fs)
Deletion
(frameshift variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
(R2318*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T2722R)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(A2955T)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+2 more
GUncertain significance
BRCA2
(N3124I)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
PALB2
(Q1091*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 5
+2 more
GPathogenic/Likely pathogenic
PALB2
(Q613*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
DCTN5, PALB2
(Q60fs)
Microsatellite
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 5
+6 more
GPathogenic/Likely pathogenic
RAD51D, RAD51L3-RFFL
(R154fs +2 more)
Duplication
(non-coding transcript variant +1 more)
Familial cancer of breast
GPathogenic
BRCA1
Deletion
(splice acceptor variant)
not provided
+6 more
GPathogenic
BRCA1
(Q563* +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C226fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRIP1
(I952V)
Single nucleotide variant
(missense variant)
Ovarian neoplasm
+5 more
GConflicting classifications of pathogenicity
BRIP1
(P596T)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
BRIP1
(G569R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
(A230P +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CHEK2
(Q78*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
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