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 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA1, LOC126862571
(G1287D +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+6 more
GUncertain significance
BRCA1
(E1734K +79 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+5 more
GUncertain significance
BRCA1
(K168E +11 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GUncertain significance
BRCA1
(H1686Y +77 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
BRCA1
(V1035A +20 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GConflicting classifications of pathogenicity
BRCA1
(S1027T +20 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
BRCA1
(C39*)
Single nucleotide variant
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
BRCA1
(Y1552H +75 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
BRCA1
(S308G +20 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
BRCA1
(T202fs +1 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T176M +11 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+6 more
GUncertain significance
BRCA1
(K309* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(S423fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(P1659fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S1743fs +3 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(Q1135E +21 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
BRCA1
(P1445T +58 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
BRCA1
(R629I +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA1
(E554D +20 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+7 more
GConflicting classifications of pathogenicity
BRCA1
(H888P +20 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
BRCA1
(C328R +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+7 more
GConflicting classifications of pathogenicity
BRCA1
Deletion
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
+5 more
GBenign/Likely benign
BRCA1
Single nucleotide variant
(intron variant)
not provided
+7 more
GUncertain significance
BRCA1
(D96G +4 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+5 more
GPathogenic/Likely pathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(E1462K +75 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GUncertain significance
BRCA1, LOC126862571
(S1253C +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+8 more
GConflicting classifications of pathogenicity
BRCA1
(W1508* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T582M +20 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
+7 more
GConflicting classifications of pathogenicity
BRCA1
(R1555K +75 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+5 more
GUncertain significance
BRCA1
(R7H)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
+6 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(D420G +20 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
BRCA1
(I1824V +90 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
BRCA1
(M1411V +58 more)
Single nucleotide variant
(missense variant +1 more)
Pancreatic cancer, susceptibility to, 4
+5 more
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Microsatellite
(intron variant)
Familial cancer of breast
+5 more
GBenign/Likely benign
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(E1352* +21 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(E1185D +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
BRCA1
(Q284R +19 more)
Single nucleotide variant
(intron variant +2 more)
Hereditary cancer-predisposing syndrome
+7 more
GConflicting classifications of pathogenicity
BRCA1
(G275D +19 more)
Single nucleotide variant
(intron variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(T229fs +19 more)
Duplication
(intron variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(C24fs)
Microsatellite
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R1835* +80 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(W1815* +80 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q1811* +90 more)
Single nucleotide variant
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(R1751* +79 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
BRCA1-related cancer predisposition
GPathogenic
BRCA1
(S1722F +79 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GPathogenic/Likely pathogenic
BRCA1
Deletion
(splice acceptor variant)
Hereditary breast ovarian cancer syndrome
+6 more
GPathogenic
BRCA1
(K1690Q +77 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+8 more
GConflicting classifications of pathogenicity
BRCA1
(A1615T +77 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia, complementation group S
+9 more
GUncertain significance
BRCA1
(L1564P +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(T1550I +75 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GUncertain significance
BRCA1
(S1495fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(W1508* +75 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary breast ovarian cancer syndrome
+6 more
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(G1348fs +21 more)
Microsatellite
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(M1I)
Single nucleotide variant
(missense variant +3 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(S1298* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(N1236K +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(S1217P +21 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(Q1200* +21 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(A1142P +21 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+6 more
GConflicting classifications of pathogenicity
BRCA1
(E1033* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E908* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K818fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Y856H +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(Q81* +4 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S770* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R762S +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(P684S +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+8 more
GConflicting classifications of pathogenicity
BRCA1
(D67Y +1 more)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(C64Y +1 more)
Single nucleotide variant
(missense variant)
BRCA1-related cancer predisposition
GPathogenic
BRCA1
(E575K +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+6 more
GConflicting classifications of pathogenicity
BRCA1
(H476R +20 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GBenign/Likely benign
BRCA1
(F461L +20 more)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia, complementation group S
+6 more
GConflicting classifications of pathogenicity
BRCA1
(C44F)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E355fs +20 more)
Deletion
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(I379M +20 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GBenign/Likely benign
BRCA1
(T37K)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L246V +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(M1628T +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S1613G +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(S1512I +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(K1183R +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1, LOC126862571
(S1140G +21 more)
Single nucleotide variant
(missense variant +1 more)
BRCA1-related cancer predisposition
GBenign
BRCA1, LOC126862571
(P1099L +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(E1038G +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
BRCA1
(M1008I +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GBenign
Format
Items per page
Sort by
Choose Destination