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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(L263F)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
ATM
(C1502F)
Single nucleotide variant
(missense variant)
Ataxia-telangiectasia syndrome
+4 more
GUncertain significance
ATM
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+5 more
GConflicting classifications of pathogenicity
ATM
(I1806M)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
C11orf65, ATM
(E1978*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+5 more
GPathogenic
C11orf65, ATM
(L2850*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1955*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E2258K)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
+4 more
GConflicting classifications of pathogenicity
PALB2
(F588L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
PALB2
(R414*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 5
+7 more
GPathogenic
TP53
(R337H +3 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+17 more
GPathogenic/Likely pathogenic
BRCA1
(Q1756fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRIP1
(P1092L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+6 more
GConflicting classifications of pathogenicity
BRIP1
(A759fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
Deletion
(splice donor variant)
Hereditary breast ovarian cancer syndrome
+5 more
GPathogenic/Likely pathogenic
CHEK2
(W93*)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GPathogenic/Likely pathogenic
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