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Links from MedGen

Items: 1 to 100 of 21490

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BRCA2
Deletion
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
RAD51C
Single nucleotide variant
(3 prime UTR variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA1
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
PNPT1
(Y334*)
Single nucleotide variant
(nonsense)
Hereditary breast ovarian cancer syndrome
GPathogenic
KCNJ16
(W85*)
Single nucleotide variant
(nonsense)
PMM2-congenital disorder of glycosylation
+1 more
GPathogenic
BRCA1
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(C1975fs)
Duplication
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(P1519fs)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(N830fs)
Insertion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(Y1324fs)
Insertion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(Q853fs)
Insertion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(M1745fs)
Duplication
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(Q1301* +3 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(E1857fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
BRCA2
(M1594fs)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA1
Deletion
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(Y803*)
Duplication
(nonsense +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA1
(T106fs +20 more)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA1
(G580* +20 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA1
(Q1170fs +75 more)
Deletion
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(G1490fs +4 more)
Deletion
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(L1449* +4 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(G2496fs +3 more)
Insertion
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(A2494fs +3 more)
Deletion
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(I157fs +2 more)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(Q1987fs)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
Deletion
(nonsense +2 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(A1572fs)
Insertion
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(H1488fs)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(T1388fs)
Deletion
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(T203fs +1 more)
Microsatellite
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA1
(K151* +11 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+1 more
GConflicting classifications of pathogenicity
BRCA1
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA1
Duplication
Hereditary breast ovarian cancer syndrome
GLikely pathogenic
BRCA2
(M1936fs)
Deletion
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA1
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(L996P)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(P3356A +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA2
(E1311A)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(G800R)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1, LOC126862571
Single nucleotide variant
(synonymous variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA1
(T1466I +77 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(G904R)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(D777V)
Single nucleotide variant
(intron variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(E1511Q)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(K434E)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(F11fs)
Indel
(frameshift variant +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(I975D)
Indel
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(C916S)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1, LOC126862571
(E1049D +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(H2408N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(S2052L)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(E1358A +75 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(V726L)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
Deletion
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA1
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA1
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(non-coding transcript variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(V2109L)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(R858T)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(R3269fs +4 more)
Duplication
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(K1205T +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1, LOC126862571
(N1013I +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
BRCA2
(Q754*)
Single nucleotide variant
(nonsense +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(R841S)
Single nucleotide variant
(intron variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA1
(D1186E +75 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(S320P +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(Y1661del)
Deletion
(inframe_deletion +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(T549S +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Deletion
(inframe_deletion +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(Q1235P)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(F2841L +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA1
(L89R +11 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(R399fs +20 more)
Microsatellite
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA1
(S1387fs +2 more)
Deletion
(frameshift variant +1 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(N1878fs)
Duplication
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA1
(E1005* +20 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(Y1894*)
Insertion
(nonsense +2 more)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(S839P +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(T213I +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2
(C1094F +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(L2805fs)
Duplication
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2
(E2443G +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2
(K1872R)
Single nucleotide variant
(missense variant +2 more)
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
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