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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHEK2
(N333fs +3 more)
Deletion
(frameshift variant)
Familial cancer of breast
+1 more
GPathogenic
ATM, C11orf65
(Q2593*)
Single nucleotide variant
(nonsense +1 more)
Ataxia-telangiectasia syndrome
+1 more
GPathogenic
BRCA2
(S1970*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
GPathogenic
ATM, C11orf65
(Q2729H)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+2 more
GUncertain significance
TP53
(R142H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+5 more
GConflicting classifications of pathogenicity
ATM, C11orf65
(Q2729H)
Single nucleotide variant
(missense variant +1 more)
Ataxia-telangiectasia syndrome
+3 more
GUncertain significance
MRE11
(R380H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
PALB2
(H1170fs)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group N
+5 more
GPathogenic/Likely pathogenic
MUTYH
(Q314* +7 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
MSH6
(R1217G +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
CHEK2
(S355fs +4 more)
Deletion
(frameshift variant)
Li-Fraumeni syndrome 2
+10 more
GPathogenic/Likely pathogenic
RAD50, TH2LCRR
(Q1263H)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
CDH1
(E445A +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PMS2
(L538fs +7 more)
Microsatellite
(frameshift variant +1 more)
Lynch syndrome
GUncertain significance
MSH2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA2
(R3128*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
PMS2
(I18V)
Single nucleotide variant
(missense variant +3 more)
Lynch syndrome 1
GLikely benign
BRCA2
(S2522F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BRCA2
(S1970*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N1626fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA1, LOC126862571
(N1355fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
NBN
(R215W +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+4 more
GConflicting classifications of pathogenicity
BRIP1
(R798*)
Single nucleotide variant
(nonsense)
Neoplasm of ovary
+9 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2443*)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
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