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Links from MedGen

Items: 1 to 100 of 19291

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATM
(K50fs)
Insertion
(frameshift variant)
Familial cancer of breast
GLikely pathogenic
ATM
(F1463fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
ATM
(Q161fs)
Deletion
(frameshift variant)
Familial cancer of breast
GPathogenic
PPM1D
(N402fs)
Deletion
(frameshift variant)
Familial cancer of breast
+1 more
GPathogenic
BARD1
(S173F +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
PALB2
(T412I +2 more)
Single nucleotide variant
(intron variant +1 more)
Familial cancer of breast
GUncertain significance
BARD1
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
CHEK2
(V176I +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
BARD1
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
PALB2
(F890I +5 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
PALB2
(M1013I +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
PALB2
(F890L +5 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
BARD1
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
BARD1
Deletion
(inframe_deletion +2 more)
Familial cancer of breast
GUncertain significance
BARD1
(D516E +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
PALB2
(P785fs +3 more)
Duplication
(frameshift variant +1 more)
Familial cancer of breast
GPathogenic
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
PALB2
(T521S +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
PALB2
(M1007L +7 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
BARD1
(S116T +3 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
BARD1
(L380I +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
PALB2
Indel
(inframe_indel +1 more)
Familial cancer of breast
GPathogenic
CHEK2
(T166fs +4 more)
Indel
(frameshift variant)
Familial cancer of breast
GPathogenic
CHEK2
Single nucleotide variant
(splice donor variant)
Familial cancer of breast
GLikely pathogenic
PALB2
(T86P +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
PALB2
Deletion
(intron variant)
Familial cancer of breast
GBenign
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
BARD1
(I266V +4 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GLikely benign
PALB2
Duplication
(inframe_insertion +1 more)
Familial cancer of breast
GUncertain significance
BARD1
Single nucleotide variant
(synonymous variant +2 more)
Familial cancer of breast
GLikely benign
BARD1
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
BARD1
(P60T)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
BARD1
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
CHEK2
(E208G +3 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
BARD1
(K492R +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial cancer of breast
GUncertain significance
BARD1
Single nucleotide variant
(synonymous variant +2 more)
Familial cancer of breast
GLikely benign
PALB2
(F348L +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
PALB2
Single nucleotide variant
(synonymous variant +2 more)
Familial cancer of breast
GLikely benign
BARD1
(K456N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial cancer of breast
GUncertain significance
CHEK2
Single nucleotide variant
(splice acceptor variant +1 more)
Familial cancer of breast
GLikely pathogenic
CHEK2
(R492fs +4 more)
Duplication
(frameshift variant)
Familial cancer of breast
GUncertain significance
BARD1
(P445R +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
CHEK2
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
GLikely benign
PALB2
(E106G +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
BARD1
Single nucleotide variant
(synonymous variant +2 more)
Familial cancer of breast
GLikely benign
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
CHEK2
Inversion
(intron variant)
Familial cancer of breast
GUncertain significance
BARD1
(D481H +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
GUncertain significance
CHEK2
(P480fs +4 more)
Duplication
(frameshift variant)
Familial cancer of breast
GLikely pathogenic
BARD1
Duplication
(intron variant)
Familial cancer of breast
GBenign
BARD1
Single nucleotide variant
(synonymous variant +1 more)
Familial cancer of breast
GLikely benign
CHEK2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
PALB2
Single nucleotide variant
(intron variant)
Familial cancer of breast
GLikely benign
CHEK2
(D394E +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
CHEK2
(L407T +4 more)
Indel
(missense variant)
Familial cancer of breast
GUncertain significance
PALB2
(G1142C +10 more)
Single nucleotide variant
(missense variant +1 more)
Familial cancer of breast
GUncertain significance
BRIP1
(D149E)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
(L1008fs)
Deletion
(frameshift variant)
Familial cancer of breast
+1 more
GLikely pathogenic
BRIP1
(N1233S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
BRIP1
(H314Y)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
BRIP1
(P574S)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GLikely benign
BRIP1
(P655L)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GLikely benign
BRIP1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
(E501Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(intron variant)
Familial cancer of breast
+1 more
GLikely benign
BRIP1
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
BRIP1
Deletion
(inframe_deletion)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Familial cancer of breast
+1 more
GLikely benign
BRIP1
Duplication
(splice donor variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
(Y353C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(P1101S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
(G657S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(G750R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
Insertion
(intron variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(S876R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
(L33V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(T609I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
(C88Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
(T953N)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(D336V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
Insertion
(inframe_insertion)
Fanconi anemia complementation group J
+1 more
GPathogenic
BRIP1
Duplication
(intron variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
(A395fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group J
+1 more
GPathogenic
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
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