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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
(G382D +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial adenomatous polyposis 2
+8 more
GPathogenic/Likely pathogenic
MSH6
(D727fs +1 more)
Deletion
(frameshift variant)
Lynch syndrome
GPathogenic
NBN
(E301* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GPathogenic/Likely pathogenic
NBN
(V276fs +1 more)
Duplication
(frameshift variant)
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
ATM
(F1209fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
PALB2
(F1161fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
RAD51D, RAD51L3-RFFL
(R253* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RAD51D, RAD51L3-RFFL
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
RAD51D, RAD51L3-RFFL
(C9fs)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 4
GPathogenic
BRCA1
(C1501* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(L1306fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(V1234fs +21 more)
Microsatellite
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(R1203* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q934* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C835fs +20 more)
Duplication
(intron variant +1 more)
Ovarian carcinoma
GLikely pathogenic
BRCA1
(Q657* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E149* +11 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
GLikely pathogenic
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