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Links from MedGen

Items: 1 to 100 of 669

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CKS1B, LOC129931529
+1 more
(F17fs)
Deletion
(frameshift variant +1 more)
Breast neoplasm
GPathogenic
CKS1B, SHC1
(K11fs)
Deletion
(frameshift variant +1 more)
Breast neoplasm
GPathogenic
JUN, LOC129930620
(P220fs)
Deletion
(frameshift variant)
Breast neoplasm
GPathogenic
IL7R
(K157fs)
Deletion
(frameshift variant +1 more)
Breast neoplasm
GPathogenic
IL2
Deletion
(nonsense)
Breast neoplasm
GPathogenic
IL2
(C145fs)
Deletion
(frameshift variant)
Breast neoplasm
GPathogenic
GEN1
(S873R)
Single nucleotide variant
(missense variant)
Breast neoplasm
+1 more
GBenign/Likely benign
PMS2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
DICER1
Deletion
(intron variant)
Breast neoplasm
GUncertain significance
BRCA2
(D244fs)
Deletion
(frameshift variant)
Breast neoplasm
+1 more
GPathogenic
BRCA2
(S205fs)
Deletion
(frameshift variant)
Breast neoplasm
GPathogenic
CHEK2
(E281fs +4 more)
Deletion
(frameshift variant)
Breast neoplasm
GLikely pathogenic
CHEK2
(E156fs +4 more)
Deletion
(frameshift variant)
Breast neoplasm
GPathogenic
BRCA2
(C1960fs)
Deletion
(frameshift variant)
Breast neoplasm
GPathogenic
BRCA2
(D1547N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA1
(N656Y +20 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Breast neoplasm
GPathogenic
BRCA2
(T269fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRIP1
(E1222fs)
Duplication
(frameshift variant)
not provided
+3 more
GUncertain significance
PMS2
(E661K +7 more)
Single nucleotide variant
(missense variant +1 more)
Lynch syndrome
+6 more
GUncertain significance
PTEN
(C83* +1 more)
Single nucleotide variant
(nonsense +1 more)
PTEN hamartoma tumor syndrome
GPathogenic
BRCA2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
BRCA1
(E181* +11 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary breast ovarian cancer syndrome
+1 more
GPathogenic
BRCA1
(G1560fs +3 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA2
(M1fs)
Deletion
(frameshift variant +1 more)
Breast neoplasm
GPathogenic
BRCA2
(S286*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(N918fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(K1108*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(L2736fs)
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(F2801fs)
Indel
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
PALB2
(K1048fs)
Deletion
(frameshift variant)
Breast neoplasm
+1 more
GPathogenic
PALB2
(T827fs)
Microsatellite
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
PALB2
(E215*)
Single nucleotide variant
(nonsense)
Familial cancer of breast
+1 more
GPathogenic
ATM, C11orf65
(W2104*)
Single nucleotide variant
(nonsense +1 more)
Breast neoplasm
+1 more
GPathogenic/Likely pathogenic
TP53
(C102fs +2 more)
Duplication
(frameshift variant +1 more)
Breast neoplasm
+1 more
GPathogenic
BRIP1
(Y748*)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
BARD1
(W218* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BRCA1
Deletion
Breast neoplasm
GPathogenic
BRCA1, LOC126862571
(N1215fs +21 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
GALNT12
(P240L)
Single nucleotide variant
(missense variant)
Breast neoplasm
+3 more
GBenign/Likely benign
BRCA2
(Y828H)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+2 more
GConflicting classifications of pathogenicity
CHEK2
(D347A +3 more)
Single nucleotide variant
(missense variant +1 more)
Breast neoplasm
GLikely pathogenic
CHEK2
(V395F +4 more)
Single nucleotide variant
(missense variant)
Familial cancer of breast
GUncertain significance
FGFR4
(Y367C)
Single nucleotide variant
(missense variant +1 more)
Breast neoplasm
GLikely pathogenic
ROCK1
(P1193S)
Single nucleotide variant
(missense variant)
Lung carcinoma
+1 more
GLikely pathogenic
XPO1
(E571A)
Single nucleotide variant
(missense variant)
B-cell chronic lymphocytic leukemia
+4 more
GLikely pathogenic
XPO1
(E571V)
Single nucleotide variant
(missense variant)
B-cell chronic lymphocytic leukemia
+4 more
GLikely pathogenic
XPO1
(E571K)
Single nucleotide variant
(missense variant)
Breast neoplasm
+4 more
GLikely pathogenic
TP53
(Y104N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(Y104C +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(Y102N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GPathogenic
TP53
(Y102H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(Y102S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(Y181D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(Y181N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(Y181H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TP53
(Y166D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(Y166H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(Y166N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(Y166S +3 more)
Single nucleotide variant
(missense variant)
Squamous cell lung carcinoma
+15 more
GLikely pathogenic
TP53
(Y166F +3 more)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+15 more
GLikely pathogenic
TP53
(Y166C +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic
TP53
(Y124H +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(Y124N +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(V142L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(V142A +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(V142G +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(V142D +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(V142F +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(V140E +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
TP53
(V177E +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
TP53
(V177G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(V177L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
(V134E +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(V134L +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TP53
(T125R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
TP53
(T125P +1 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(S109A +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(S109P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
(S109Y +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
TP53
(S176N +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(S176R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(S176I +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(R150P +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+14 more
GPathogenic/Likely pathogenic
TP53
(R148G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GConflicting classifications of pathogenicity
TP53
(R148K +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(R141S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+2 more
GPathogenic
TP53
(R141L +3 more)
Single nucleotide variant
(missense variant)
Nasopharyngeal carcinoma
+14 more
GPathogenic
TP53
(R116G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(R174G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(R174L +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(R136G +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(Q105H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TP53
(Q105L +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(P146H +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(P146A +3 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
TP53
(P146R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GConflicting classifications of pathogenicity
TP53
(P146T +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+2 more
GPathogenic/Likely pathogenic
TP53
(P146S +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(P112A +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome
+1 more
GPathogenic
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