U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 7497

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
GLikely 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
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
BRCA2
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(Y224* +3 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(S1047Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(C1114* +4 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely pathogenic
BRCA2
(S708A)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S2143T)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(L2364V +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(W1462C +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(N1039D +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(Q1701del)
Deletion
(inframe_deletion +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(N854fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E911G)
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
(S1004R +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S1257fs +4 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(L769V)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(I1470M)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(L667V)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S1023N +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(L1205I +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(D1271V +4 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(H1223L)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(E2229D)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(K1487T)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S1339R)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(R1305K +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(L1114P +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(L1545I)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(E1755K)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(E1441V)
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
(E1211K)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2
(S2052fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(D1807fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E45K)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2
(K343fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(E1375fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GPathogenic
BRCA2
(S417fs)
Duplication
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination