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Links from MedGen

Items: 1 to 100 of 408

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA2
(V220fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group D1
GPathogenic
BRCA2
(L1598fs)
Microsatellite
(frameshift variant)
Medulloblastoma
+8 more
GPathogenic
BRCA2
(L1578*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group D1
+1 more
GPathogenic/Likely pathogenic
BRCA2
(E1812K)
Single nucleotide variant
(missense variant)
Pancreatic cancer, susceptibility to, 2
+8 more
GConflicting classifications of pathogenicity
BRCA2
(M1272I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2
(F62L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group D1
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2
(H282D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(M408I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
(K3254E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group D1
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group D1
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(D750V)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+9 more
GConflicting classifications of pathogenicity
BRCA2
(N1596fs)
Deletion
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2, LOC106721785
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group D1
+2 more
GConflicting classifications of pathogenicity
BRCA2
(S1437T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+9 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(synonymous variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(S1818*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BRCA2
(L204fs)
Duplication
(frameshift variant)
Medulloblastoma
+10 more
GPathogenic/Likely pathogenic
BRCA2
(G1007V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group D1
+9 more
GConflicting classifications of pathogenicity
BRCA2
(I210V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
BRCA2
(L3232fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group D1
GPathogenic
BRCA2
(T2388I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group D1
+8 more
GUncertain significance
BRCA2
(K1108T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
(F506S)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
BRCA2
(L1466I)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+9 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
BRCA2
(V2818F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
(N3099D)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+9 more
GUncertain significance
BRCA2
(E866K)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
(T2891R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA2
(V2652M)
Single nucleotide variant
(missense variant)
not specified
+11 more
GUncertain significance
BRCA2
(T1980P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
(D635E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+9 more
GConflicting classifications of pathogenicity
BRCA2
(E2565K)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
BRCA2
(D1868N)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(E7fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(I2177T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+9 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+10 more
GLikely benign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group D1
+2 more
GLikely benign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group D1
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group D1
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group D1
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GLikely benign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GLikely benign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group D1
+2 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2
(K1139Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2
(S2705G)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(splice acceptor variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+7 more
GPathogenic
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(K3083fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(D2489*)
Insertion
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA2
(Q2345R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BRCA2
(N802S)
Single nucleotide variant
(missense variant)
not provided
+10 more
GConflicting classifications of pathogenicity
BRCA2
(N1742I)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
BRCA2
(K2594R)
Single nucleotide variant
(missense variant)
Glioma susceptibility 3
+10 more
GUncertain significance
BRCA2
(V1756E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BRCA2
(M1149I)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+5 more
GConflicting classifications of pathogenicity
BRCA2
(I2454F)
Single nucleotide variant
(missense variant)
Glioma susceptibility 3
+10 more
GUncertain significance
BRCA2
(K169Q)
Single nucleotide variant
(missense variant)
Glioma susceptibility 3
+9 more
GUncertain significance
BRCA2
(H2116L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+11 more
GUncertain significance
BRCA2
(E2476del)
Microsatellite
(inframe_deletion)
Glioma susceptibility 3
+11 more
GConflicting classifications of pathogenicity
BRCA2
(T1609A)
Single nucleotide variant
(missense variant)
Breast and/or ovarian cancer
+11 more
GConflicting classifications of pathogenicity
BRCA2
(V1270I)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
BRCA2
(E425G)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+3 more
GConflicting classifications of pathogenicity
BRCA2
(E2844K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BRCA2
(E3177G)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(F1506fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(I1664T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
Single nucleotide variant
(3 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(L428I)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+11 more
GConflicting classifications of pathogenicity
BRCA2
(S744L)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+10 more
GConflicting classifications of pathogenicity
BRCA2
(V1639fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L1740F)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+10 more
GConflicting classifications of pathogenicity
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