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Items: 1 to 100 of 224

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSH2
Deletion
(genic downstream transcript variant)
Uterine corpus cancer
GLikely pathogenic
MLH1
(T137fs +5 more)
Duplication
(frameshift variant)
Endometrial carcinoma
GPathogenic
MSH6
(A192fs +2 more)
Deletion
(frameshift variant)
Endometrial carcinoma
GPathogenic
MSH6
(L1030* +14 more)
Single nucleotide variant
(nonsense)
Endometrial carcinoma
GPathogenic
RAD50
Deletion
(splice donor variant)
Hepatocellular carcinoma
GLikely pathogenic
RAD50
(V683fs)
Deletion
(frameshift variant)
Hepatocellular carcinoma
GLikely pathogenic
PMS2
Deletion
(splice acceptor variant +1 more)
Hepatocellular carcinoma
GLikely pathogenic
FANCG
Single nucleotide variant
(splice acceptor variant)
Carcinoma of pancreas
GLikely pathogenic
BRCA2
(C2473fs)
Duplication
(frameshift variant)
Carcinoma of pancreas
GPathogenic
CHEK2
Deletion
(splice acceptor variant +1 more)
not provided
GPathogenic
BRIP1
(C443fs)
Deletion
(frameshift variant)
Carcinoma of pancreas
GPathogenic
POLD1
(R1050fs +1 more)
Deletion
(frameshift variant +1 more)
Carcinoma of pancreas
GPathogenic
BRIP1
(C350fs)
Deletion
(frameshift variant)
Breast and/or ovarian cancer
GPathogenic
BRCA2
(Y3049fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
RAD51D, RAD51L3-RFFL
(C182fs +2 more)
Deletion
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
RAD51D, RAD51L3-RFFL
(Q192* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
GPathogenic
BRCA2
(S1252fs)
Deletion
(frameshift variant)
Breast and/or ovarian cancer
GPathogenic
BRCA1
(D1510fs +3 more)
Deletion
(frameshift variant +1 more)
Breast and/or ovarian cancer
GPathogenic
LOC129390903, RAD51C
(Q222*)
Single nucleotide variant
(nonsense +1 more)
Breast and/or ovarian cancer
GPathogenic
RAD50
(E1033fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
PALB2
(V398fs)
Deletion
(frameshift variant)
Breast and/or ovarian cancer
GPathogenic
NBN
(W2*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
BRCA1
Deletion
Breast and/or ovarian cancer
GPathogenic
BRCA1
Deletion
Breast and/or ovarian cancer
GPathogenic
BRCA1
Deletion
Breast and/or ovarian cancer
GPathogenic
BRCA1
(D185fs +1 more)
Deletion
(frameshift variant +1 more)
Breast and/or ovarian cancer
GPathogenic
BRCA1
Indel
(splice acceptor variant +2 more)
Breast and/or ovarian cancer
GPathogenic
BRIP1
Indel
(splice acceptor variant +2 more)
Breast and/or ovarian cancer
GPathogenic
BRCA1
Deletion
(splice acceptor variant +1 more)
Breast and/or ovarian cancer
GPathogenic
BRCA1
(T629fs +20 more)
Duplication
(frameshift variant +1 more)
Breast and/or ovarian cancer
GPathogenic
NBN
(K383* +1 more)
Single nucleotide variant
(nonsense)
Microcephaly, normal intelligence and immunodeficiency
GPathogenic
MLH1
Indel
(splice acceptor variant +1 more)
Breast and/or ovarian cancer
GPathogenic
MLH1
Duplication
(splice donor variant +1 more)
Breast and/or ovarian cancer
GPathogenic
CHEK2
(Q34fs)
Microsatellite
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
ATM
(K1400fs)
Duplication
(frameshift variant)
Breast and/or ovarian cancer
GPathogenic
RAD51C
(P127fs)
Insertion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
NBN
(K549* +1 more)
Single nucleotide variant
(nonsense)
Aplastic anemia
+2 more
GPathogenic
RAD50
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MSH6
(L591fs +2 more)
Microsatellite
(frameshift variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GPathogenic/Likely pathogenic
ATM
(Q1084*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+1 more
GPathogenic
FANCE
(V311fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MSH6
(V166fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
PALB2
(S254*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
PALB2
(S1165*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD51D, RAD51L3-RFFL
(Q60*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
BRCA2
(S1970*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
RAD50
(W1017*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MSH6
Deletion
(nonsense +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GPathogenic
CHEK2
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
BARD1
Single nucleotide variant
(splice donor variant +1 more)
Familial cancer of breast
+1 more
GLikely pathogenic
BRCA1
(Q1556* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
MSH6
(K790fs +2 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
BRIP1
(L43fs)
Microsatellite
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic
BRIP1
(T630fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
MSH6
(R118fs +1 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 5
+4 more
GPathogenic/Likely pathogenic
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1
(W321* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
ATM
(Q201*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
BRIP1
Deletion
(nonsense)
Familial ovarian cancer
+5 more
GPathogenic/Likely pathogenic
BRIP1
(M1fs)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ATM
(T1284fs)
Deletion
(frameshift variant)
Familial cancer of breast
+3 more
GPathogenic
NBN
(I63fs)
Deletion
(5 prime UTR variant +1 more)
Aplastic anemia
+3 more
GPathogenic/Likely pathogenic
CHEK2
(Y298* +3 more)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
RAD51D, RAD51L3-RFFL
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BARD1
(V254fs +4 more)
Microsatellite
(frameshift variant +1 more)
Familial cancer of breast
+2 more
GPathogenic/Likely pathogenic
RAD50
(Y625*)
Single nucleotide variant
(nonsense)
Nijmegen breakage syndrome-like disorder
+2 more
GPathogenic
C11orf65, ATM
(E2039K)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Single nucleotide variant
(intron variant)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
MSH6
(S564* +2 more)
Single nucleotide variant
(nonsense)
Lynch syndrome 5
+4 more
GPathogenic/Likely pathogenic
CHEK2
Deletion
(splice donor variant)
Hereditary breast ovarian cancer syndrome
+5 more
GPathogenic/Likely pathogenic
TP53
(I156T +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+6 more
GConflicting classifications of pathogenicity
OOncogenic
MSH2
(C697Y +1 more)
Single nucleotide variant
(missense variant)
Lynch syndrome 1
GLikely pathogenic
NBN
Single nucleotide variant
(splice donor variant)
Microcephaly, normal intelligence and immunodeficiency
+4 more
GPathogenic/Likely pathogenic
PTEN
(L57W +1 more)
Single nucleotide variant
(missense variant +1 more)
PTEN hamartoma tumor syndrome
GLikely pathogenic
BARD1
(R112* +1 more)
Single nucleotide variant
(nonsense +2 more)
Familial cancer of breast
+3 more
GPathogenic
CHEK2
(T168I +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+2 more
GUncertain significance
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
TP53
Single nucleotide variant
(synonymous variant)
Glioma susceptibility 1
+7 more
GPathogenic/Likely pathogenic
OLikely oncogenic
BRCA2
(L2015*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
TP53
(M105I +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GPathogenic
OOncogenic
ATM, C11orf65
(V2716A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
BRIP1
(Y800*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
TP53
(R142H +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
+5 more
GConflicting classifications of pathogenicity
PTEN
(P246L +2 more)
Single nucleotide variant
(missense variant)
PTEN hamartoma tumor syndrome
GPathogenic
MSH6
(I927fs +2 more)
Duplication
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
RAD51C
Deletion
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
RAD51D, RAD51L3-RFFL
(Q151* +1 more)
Single nucleotide variant
(nonsense +2 more)
Hereditary breast ovarian cancer syndrome
+3 more
GPathogenic/Likely pathogenic
PALB2
(D219fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
ATM
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic/Likely pathogenic
OOncogenic
RAD51C
(R168*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group O
+3 more
GPathogenic
RAD50
(E723fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
RAD51C
Deletion
(intron variant)
not provided
+5 more
GPathogenic/Likely pathogenic
BRIP1
(L680fs)
Duplication
(frameshift variant)
not provided
+4 more
GPathogenic/Likely pathogenic
CHEK2
(Y327C +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 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
Single nucleotide variant
(splice donor variant)
Inherited breast cancer and ovarian cancer
+12 more
GPathogenic/Likely pathogenic
CHEK2
(E64K)
Single nucleotide variant
(missense variant +1 more)
CHEK2-related cancer predisposition
+9 more
GConflicting classifications of pathogenicity
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