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Links from MedGen

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA2
(V941fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1558fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1558fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L1208fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(M2393fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q1482* +4 more)
Indel
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E58fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L1616*)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L971fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(K669fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S2059G)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S196fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T128fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
(S116fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
(I542fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant +2 more)
Neoplasm
OOncogenic
BRCA2
(M1272fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(M1474fs +4 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(I1075fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1332fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(H962fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(D427fs)
Indel
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1816fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T1858fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GPathogenic
BRCA2
(K1984fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(C1573fs)
Insertion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Y1064fs +4 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(V2280fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q1250fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E1058fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N111fs)
Indel
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
(R197fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(K1085* +3 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(A1385fs +4 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S710*)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(R2357* +3 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T1867fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(P1152fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
(N466fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
(E456fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
Deletion
(inframe_deletion +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(K1967*)
Duplication
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Y1333fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(C1948fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E131* +1 more)
Indel
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S617fs)
Indel
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(V824fs +3 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
Deletion
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T3137fs +4 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(T894fs +4 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q802fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1172fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(G637fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GPathogenic/Likely pathogenic
BRCA2
(V276fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(H2116fs)
Microsatellite
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(M524fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S2522fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E1581*)
Duplication
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L2621fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(P555fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L1457fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E131* +1 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(S1074fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(F1157del +3 more)
Deletion
(inframe_deletion +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(K2372E +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(R2027I)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(V1988L)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(C1853F)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(C1853R)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(N1666D)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(N1287I)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(S805T)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(A766T)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(W563R)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(G500C)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S775Y)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S137del +1 more)
Deletion
(inframe_deletion +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(L1384F)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(G1552C)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(M1029K)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(E1644G)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(E1191D +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(A1564P)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S1061L +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(P1090T +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(L1243R +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(G1215fs)
Indel
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(I1020T +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(G1938R)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S1140del)
Deletion
(inframe_deletion +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(R113G)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
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