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Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH6
(D217G +1 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome 5
+5 more
GConflicting classifications of pathogenicity
BARD1
(E139fs +4 more)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
BARD1
(E206* +1 more)
Single nucleotide variant
(nonsense +2 more)
Familial cancer of breast
GPathogenic
BARD1
(L220S +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
NBN
(S706* +1 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
Microcephaly
+6 more
GPathogenic
NBN
(M152I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(T39A)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
ATM
(L43I)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+1 more
GUncertain significance
ATM
(W57*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+4 more
GPathogenic
ATM
(G204R)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
ATM
(R451H)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM
(P534R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
(P604S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
(N1005S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
ATM
(R1262I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
ATM
(N1356D)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+5 more
GConflicting classifications of pathogenicity
ATM
(I1688T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 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
(L2307fs)
Microsatellite
(frameshift variant +1 more)
not provided
+3 more
GPathogenic
ATM, C11orf65
(R2392W)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
C11orf65, ATM
(R2461C)
Single nucleotide variant
(missense variant +1 more)
ATM-related disorder
+5 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
(R2506G)
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial cancer of breast
+4 more
GUncertain significance
ATM, C11orf65
(N2679fs)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
ATM, C11orf65
(Y2755S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ATM, C11orf65
(R2912G)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
ATM, C11orf65
(E2990K)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 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
ATM
Copy number loss
Ataxia-telangiectasia syndrome
+1 more
Gnot provided
BRCA2
(A938fs)
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
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
BRCA2
(V1810I)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+6 more
GPathogenic/Likely pathogenic
PALB2
(W1038*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
GPathogenic
PALB2
(A915T)
Single nucleotide variant
(missense variant)
Diffuse midline glioma, H3 K27-altered
+3 more
GConflicting classifications of pathogenicity
PALB2
(L253fs)
Microsatellite
(frameshift variant)
not provided
+7 more
GPathogenic
CDH1
(P3R)
Single nucleotide variant
(missense variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GLikely benign
CDH1
(G169fs)
Deletion
(frameshift variant +1 more)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GPathogenic
CDH1
(D805N +3 more)
Single nucleotide variant
(missense variant)
CDH1-related diffuse gastric and lobular breast cancer syndrome
GBenign
TP53
(R151C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GLikely benign
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
(S551fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1443* +58 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
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
(E23fs)
Microsatellite
(frameshift variant +2 more)
BRCA1-related cancer predisposition
GPathogenic
BRIP1
(A1125del)
Deletion
(inframe_deletion)
Familial cancer of breast
+5 more
GUncertain significance
BRIP1
Deletion
(nonsense)
Familial ovarian cancer
+5 more
GPathogenic/Likely pathogenic
BRIP1
(R823S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+4 more
GUncertain significance
BRIP1
(R798*)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic/Likely pathogenic
BRIP1
(Q740H)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
CHEK2
(T476M +4 more)
Single nucleotide variant
(missense variant)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
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
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
(E351D +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 2
+3 more
GUncertain significance
CHEK2
(G306A +3 more)
Single nucleotide variant
(missense variant)
Inherited breast cancer and ovarian cancer
+6 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
Single nucleotide variant
(splice donor variant)
Inherited breast cancer and ovarian cancer
+12 more
GPathogenic/Likely pathogenic
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
(E64K)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
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