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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH6
(Q522R +2 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+6 more
GConflicting classifications of pathogenicity
BARD1
(E139fs +4 more)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
RAD50
(R365Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
RAD50
(Q413*)
Single nucleotide variant
(nonsense)
Nijmegen breakage syndrome-like disorder
+2 more
GPathogenic/Likely pathogenic
PMS2
(T671M +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
PMS2
(V415M +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colon cancer
+5 more
GConflicting classifications of pathogenicity
MEN1
(R452W +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(P604S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
(L1472V)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(G2023R)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+6 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(C2488Y)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(G3029D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N319fs)
Duplication
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T431I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(E471K)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(S489C)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
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
(K797Q)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(N802S)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+10 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(A938fs)
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E1046G)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
(S1262*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(M1272I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T1302A)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(T1388fs)
Indel
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E1397K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(K1453E)
Single nucleotide variant
(missense variant)
not specified
+11 more
GConflicting classifications of pathogenicity
BRCA2
(T1483fs)
Deletion
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(W1692fs)
Duplication
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T1723A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
(N1742I)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(V1810I)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
BRCA2
(S1882*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BRCA2
(S1982fs)
Deletion
(frameshift variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
(S1992L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BRCA2
(T2097A)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
(H2116L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BRCA2
(T2314K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BRCA2
(R2318*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E2364K)
Single nucleotide variant
(missense variant)
BRCA2-related disorder
+6 more
GUncertain significance
BRCA2
(N2553fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
BRCA2
(Q2580R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
BRCA2
(R2645fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(splice acceptor variant)
BRCA2-related cancer predisposition
GPathogenic
BRCA2
(S2705G)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
BRCA2
(T2891R)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GUncertain significance
BRCA2
(E3175*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N3318H)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
PALB2
(W1038*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GPathogenic
PALB2
Deletion
(frameshift variant)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
PALB2
Deletion
(frameshift variant)
Familial cancer of breast
+8 more
GPathogenic
PALB2
(L253fs)
Microsatellite
(frameshift variant)
not provided
+7 more
GPathogenic
TP53
(E11Q)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+5 more
GConflicting classifications of pathogenicity
RAD51D, RAD51L3-RFFL
(R239Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 4
+4 more
GUncertain significance
RAD51D, RAD51L3-RFFL
(S207L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(intron variant)
BRCA1-related cancer predisposition
GPathogenic
BRCA1
(S551fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(M1673K +77 more)
Indel
(missense variant +1 more)
Breast and/or ovarian cancer
+2 more
GUncertain significance
BRCA1
(R1443* +58 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(Q1299H +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(D1115fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(P1136T +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(Q1064fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Y978* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D778fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K679* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K396R +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(C61G +1 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E29G)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BRCA1
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
RAD51C
(Y75*)
Duplication
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GPathogenic
CHEK2
(D438Y +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+10 more
GConflicting classifications of pathogenicity
CHEK2
(S428F +4 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
CHEK2
(Y424H +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
CHEK2
(S355fs +4 more)
Deletion
(frameshift variant)
CHEK2-related cancer predisposition
+10 more
GPathogenic/Likely pathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
(G306A +3 more)
Single nucleotide variant
(missense variant)
Inherited breast cancer and ovarian cancer
+6 more
GConflicting classifications of pathogenicity
CHEK2
(R117G +1 more)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+14 more
GPathogenic/Likely pathogenic
CHEK2
(R95*)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+8 more
GPathogenic
CHEK2
(W93fs)
Deletion
(frameshift variant +1 more)
Familial cancer of breast
+5 more
GPathogenic
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
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