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Items: 1 to 100 of 861

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MUTYH
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
GLikely benign
STK11
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
ATM
(G335R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
RAD51C
Single nucleotide variant
(3 prime UTR variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
MSH2
(V100L +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
STK11
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
STK11
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA2
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GConflicting classifications of pathogenicity
STK11
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
PMS2
(E120D +19 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MUTYH
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
GLikely benign
BRCA2
Single nucleotide variant
(synonymous variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
APC
(S110C +18 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
BRIP1
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group J
+2 more
GLikely benign
BRCA2
(F1844V)
Single nucleotide variant
(missense variant +2 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
MLH1
(I159fs +3 more)
Insertion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MLH1
(I159fs +3 more)
Insertion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
GLikely pathogenic
MUTYH
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MSH6
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
APC
(E1146G +18 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
BRIP1
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
BRIP1
Insertion
(inframe_insertion)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
BRCA2
(V1347fs)
Deletion
(frameshift variant)
Hereditary breast ovarian cancer syndrome
GPathogenic/Likely pathogenic
MSH6
(T331S +8 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
NF1
(T1065P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NBN
(Q110E +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
(M523V +28 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
NBN
(L446S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly, normal intelligence and immunodeficiency
+1 more
GUncertain significance
BRCA1
(A1319P +77 more)
Single nucleotide variant
(missense variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
+2 more
GUncertain significance
APC
(Q695H +18 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
MUTYH
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
PMS2
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
PMS2
(N341S +21 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
MSH2
Deletion
(intron variant)
not provided
+2 more
GBenign/Likely benign
MSH2
Deletion
(intron variant)
not specified
+1 more
GBenign/Likely benign
APC
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
APC
(T1015A +12 more)
Single nucleotide variant
(missense variant)
Familial adenomatous polyposis 1
GUncertain significance
PMS2
(S248fs +4 more)
Insertion
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
GPathogenic
PMS2
Deletion
(nonsense +2 more)
Hereditary cancer-predisposing syndrome
GPathogenic
APC
Single nucleotide variant
(intron variant)
APC-related disorder
+2 more
GConflicting classifications of pathogenicity
RAD51C
Single nucleotide variant
(3 prime UTR variant +2 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
STK11
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
STK11
Single nucleotide variant
(3 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
NBN
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
MUTYH
Single nucleotide variant
(intron variant)
not provided
GBenign
RAD51C
Duplication
(3 prime UTR variant +2 more)
not provided
GLikely benign
BRCA1
(H572Y +20 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary breast ovarian cancer syndrome
GLikely benign
PMS2
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
GLikely benign
STK11
(A420D)
Single nucleotide variant
(missense variant)
Peutz-Jeghers syndrome
+1 more
GUncertain significance
BARD1
(E265K +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+1 more
GUncertain significance
ATM
(Q1478R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PMS2
(E157Q +5 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GUncertain significance
APC
(R747K +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
APC
(R1817G +12 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
MUTYH
Single nucleotide variant
(synonymous variant +1 more)
Familial adenomatous polyposis 2
+1 more
GLikely benign
TP53
Duplication
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
STK11
Single nucleotide variant
(3 prime UTR variant)
Peutz-Jeghers syndrome
+1 more
GBenign/Likely benign
STK11
Single nucleotide variant
(3 prime UTR variant)
Peutz-Jeghers syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA1
(D20A +1 more)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
ATM
(S310N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA2
(H223P)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
NF1
(P1412R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+2 more
GUncertain significance
BARD1
(E209D +1 more)
Single nucleotide variant
(missense variant +2 more)
Familial cancer of breast
+1 more
GUncertain significance
BRIP1
(S197P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MSH6
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
PALB2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
PALB2
(L278Q)
Single nucleotide variant
(missense variant)
Familial cancer of breast
+3 more
GConflicting classifications of pathogenicity
PALB2
(C868R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MSH2
Deletion
(intron variant)
Lynch syndrome 1
+3 more
GBenign/Likely benign
MUTYH
Single nucleotide variant
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+2 more
GLikely benign
MSH6
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
MSH2
(I794L +1 more)
Single nucleotide variant
(missense variant)
Hereditary nonpolyposis colorectal neoplasms
+1 more
GConflicting classifications of pathogenicity
MSH6
(Y8C)
Single nucleotide variant
(missense variant +1 more)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GUncertain significance
MSH6
(D132G +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NF1
(H407Y)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+2 more
GConflicting classifications of pathogenicity
MLH1
(N243S +3 more)
Single nucleotide variant
(missense variant +2 more)
Lynch syndrome
+2 more
GUncertain significance
MSH6
Single nucleotide variant
(synonymous variant)
Lynch syndrome
+2 more
GLikely benign
BRCA2
(E2924D)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GUncertain significance
BRCA2
(K589E)
Single nucleotide variant
(missense variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
NF1
(T780fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
MSH6
Single nucleotide variant
(synonymous variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GLikely benign
BRCA2
Insertion
(inframe_insertion)
Breast-ovarian cancer, familial, susceptibility to, 2
+2 more
GBenign/Likely benign
CHEK2
(K464N +4 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
PMS2
(D619Y +7 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
ATM
Single nucleotide variant
(synonymous variant)
Ataxia-telangiectasia syndrome
+1 more
GLikely benign
BRIP1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
BRCA2
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
BRCA2
(D1709G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BRCA2
Deletion
(inframe_deletion)
Hereditary cancer-predisposing syndrome
GUncertain significance
BRCA1
(I1473T +9 more)
Single nucleotide variant
(intron variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
APC
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
MSH2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+2 more
GConflicting classifications of pathogenicity
LOC129390903, RAD51C
(L201V)
Single nucleotide variant
(missense variant +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
MSH2
Single nucleotide variant
(intron variant)
Hereditary nonpolyposis colorectal neoplasms
+3 more
GLikely benign
BRCA1
(I441M +20 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
ATM
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely pathogenic
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