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Links from MedGen

Items: 1 to 100 of 3987

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
BRIP1
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
(L701*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group J
+1 more
GPathogenic
BRIP1
Deletion
(splice acceptor variant)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
(V607F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(E883G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
Deletion
(splice acceptor variant)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
Insertion
(splice acceptor variant)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
(N101fs)
Deletion
(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
(R431fs)
Deletion
(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
(D898G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(H835R)
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
(T918S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(S990fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
(F95V)
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
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
(A1150V)
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
(Q867P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(M331K)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(N1028D)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(T663S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(E1042K)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(I985V)
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
(R1119T)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(P71T)
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
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
(I724fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group J
+1 more
GPathogenic
BRIP1
(K1214T)
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
(F600Y)
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
(intron 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
BRIP1
(L534P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(G750E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(E81D)
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
(S1109*)
Insertion
(nonsense)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+1 more
GLikely benign
BRIP1
(I1229L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(I246R)
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
(L974fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group J
+1 more
GLikely pathogenic
BRIP1
(C761Y)
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
(S68G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(G730fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group J
+1 more
GPathogenic
BRIP1
(Q491H)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
BRIP1
(A89S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group J
+1 more
GUncertain significance
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