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Links from MedGen

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA1
(N386fs +20 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely pathogenic
BRCA1
(R1373fs +77 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E117V +11 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(R655fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S1280fs +77 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
MSH2
(A532fs +8 more)
Duplication
(frameshift variant +1 more)
Lynch syndrome 1
+1 more
GLikely pathogenic
BRCA2
(P365fs)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely pathogenic
BRCA1
(N119fs +20 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L175fs +20 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K126fs +19 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(N1067fs +21 more)
Indel
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(P1070fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
(splice acceptor variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Duplication
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
KIF18B, LPO
+196 more
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(L1207fs +75 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely pathogenic
BRCA1
(Q103E +11 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(F1180C +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(L29F +4 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(D143E +11 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Insertion
(nonsense +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D1145fs +58 more)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Deletion
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(R152fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely pathogenic
BRCA1
(E583fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Indel
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E144fs +19 more)
Deletion
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Indel
(frameshift variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S777fs +20 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
(L1193fs +21 more)
Indel
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(D1697fs +80 more)
Insertion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely pathogenic
BRCA1
(I805fs +20 more)
Indel
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1, LOC126862571
Indel
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(A358fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
LOC126862571, BRCA1
(H1013D +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(A137T +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA1, LOC126862571
(M1009L +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(E199G +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
(Q1059L +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA1, LOC126862571
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(M235I +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(T105fs +11 more)
Duplication
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(S1275F +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(S294R +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(P479L +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(G144C +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
(G1023C +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(L329fs +20 more)
Deletion
(frameshift variant +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
(L703Q +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
LOC126862571, BRCA1
(I1019T +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA1
Deletion
(inframe_indel +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(M455del +20 more)
Deletion
(inframe_deletion +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(K151* +11 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(K13Q +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Single nucleotide variant
(synonymous variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(E122G +20 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(R124L +20 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely benign
BRCA1
(R1005T +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(N1001S +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1, LOC126862571
(L1061S +21 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(R110T +6 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(T119fs +11 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(E127G +20 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(Q116H +19 more)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(E125D +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA1
(E281D +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(V330L +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(G411V +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(N447Y +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(I690T +20 more)
Single nucleotide variant
(intron variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(Q1170R +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(S1206T +75 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Deletion
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
(D1464fs +75 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(K711* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GLikely pathogenic
BRCA1, LOC110485084
+3 more
Variation
Breast-ovarian cancer, familial, susceptibility to, 1
GUncertain significance
BRCA1
Deletion
(intron variant)
Hereditary breast ovarian cancer syndrome
+2 more
GUncertain significance
BRCA1
Single nucleotide variant
(synonymous variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GLikely benign
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GLikely benign
BRCA1
(N575del +20 more)
Microsatellite
(inframe_deletion +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GUncertain significance
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GLikely benign
BRCA1
(Q1499R +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GUncertain significance
BRCA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
BRCA1
(L827V +20 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GUncertain significance
BRCA1
(A1496T +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GUncertain significance
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GLikely benign
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