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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PALB2
(Y551*)
Duplication
(nonsense)
Familial cancer of breast
GPathogenic
BRCA2
(C3069Y)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA1
(Q1424R +58 more)
Single nucleotide variant
(missense variant +1 more)
Cancer of the pancreas
GUncertain significance
BRCA1
(S590del +20 more)
Deletion
(inframe_deletion +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA2
(E3377D)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
BRCA2
(W31L)
Single nucleotide variant
(missense variant)
Cancer of the pancreas
+3 more
GUncertain significance
BRCA2
(V891L)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+3 more
GConflicting classifications of pathogenicity
PALB2
Deletion
(frameshift variant)
not provided
+8 more
GPathogenic
BRCA1, LOC126862571
(K1110del +19 more)
Deletion
(inframe_indel +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
BRCA2
(H523R)
Single nucleotide variant
(missense variant)
Breast neoplasm
+7 more
GConflicting classifications of pathogenicity
BRCA1
(V271M +19 more)
Single nucleotide variant
(intron variant +2 more)
Hereditary breast ovarian cancer syndrome
+3 more
GBenign/Likely benign
BRCA2
(G2508S)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+8 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q1509*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(Q147R)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2
(R3384*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA2
(V2109I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group D1
+8 more
GConflicting classifications of pathogenicity
BRCA2
(N2135fs)
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(R118H)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
BRCA1
(S1486C +75 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Cancer of the pancreas
+5 more
GPathogenic/Likely pathogenic
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