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Items: 1 to 100 of 18598

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP8A2, ATXN8OS
+2048 more
Copy number loss
See cases
GPathogenic
ABCC4, ABHD13
+2049 more
Copy number gain
See cases
GPathogenic
LOC126861801, LOC126861802
+2047 more
Copy number gain
See cases
GPathogenic
PDS5B, PDX1
+566 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2044 more
Copy number gain
See cases
GPathogenic
LOC126861839, LOC126861840
+2045 more
Copy number gain
See cases
GPathogenic
LOC130009480, LOC130009481
+488 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2040 more
Copy number gain
See cases
GPathogenic
LOC124849292, LOC124849293
+2028 more
Copy number gain
See cases
GPathogenic
LOC130009376, LOC130009377
+620 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2024 more
Copy number gain
See cases
GPathogenic
ABCC4, ABHD13
+2021 more
Copy number gain
See cases
GPathogenic
LOC130009743, LOC130009744
+2024 more
Copy number gain
See cases
GPathogenic
LOC130009548, LOC130009549
+2024 more
Copy number gain
See cases
GPathogenic
ALOX5AP, B3GLCT
+202 more
Copy number loss
See cases
GPathogenic
ALG5, ALOX5AP
+210 more
Copy number gain
See cases
GPathogenic
ALOX5AP, B3GLCT
+117 more
Copy number loss
See cases
GPathogenic
LOC126861732, LOC126861733
+213 more
Copy number loss
See cases
GPathogenic
RBM26-AS1, RCBTB1
+1004 more
Copy number gain
See cases
GPathogenic
LOC130009757, LOC130009758
+780 more
Copy number loss
See cases
GPathogenic
AKAP11, ALG5
+485 more
Copy number loss
See cases
GPathogenic
B3GLCT, BRCA2
+79 more
Copy number loss
See cases
GPathogenic
LOC130009739, LOC130009740
+992 more
Copy number gain
See cases
GPathogenic
ACOD1, AKAP11
+992 more
Copy number gain
See cases
GPathogenic
AKAP11, ALG11
+735 more
Copy number gain
See cases
GPathogenic
BRCA2, LOC106721785
+1 more
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
+1 more
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GBenign
BRCA2, LOC106721785
+1 more
Single nucleotide variant
(intron variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
+1 more
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GBenign
BRCA2, LOC106721785
+1 more
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
+2 more
Deletion
Hereditary breast ovarian cancer syndrome
+1 more
GPathogenic
BRCA2, LOC106721785
Single nucleotide variant
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
not provided
+3 more
GBenign/Likely benign
BRCA2, LOC106721785
Duplication
not provided
GUncertain significance
BRCA2, LOC106721785
Deletion
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
+1 more
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2, LOC106721785
+1 more
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2, LOC106721785
+3 more
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
BRCA2, LOC106721785
+1 more
Deletion
Hereditary breast ovarian cancer syndrome
GPathogenic
LOC106721785, LOC112163653
+3 more
Deletion
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2, LOC106721785
Single nucleotide variant
Breast-ovarian cancer, familial, susceptibility to, 2
+4 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
Breast-ovarian cancer, familial, susceptibility to, 2
+1 more
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Duplication
Breast-ovarian cancer, familial, susceptibility to, 2
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant +1 more)
Familial cancer of breast
GUncertain significance
NM_000059.4(BRCA2):c.-143_-142insCGTCTTTTAGCATACAGGTCTTGTGCAGCTTTTATCAGATTTCTTCCTCTAAGTCTTGATACTTTTTTTTTTTTTAATAATACTTTAAGTTCCGCAATACATGTGCAGAACCTGCAGGTTTGTTACATAGGTATACACGTGCCATGGTGGTTTGCTACACCCATCAACCTGTCATCTACATTAGATATTTCTCCTAATGCTATCCCTTCCCTAGCCCCCCATCCCCCAATAGCCCCCGGTGTGTGATGTTCCCTGCCCTGTGTCCACGTGTTCTCATTGTTCAACTCCCACTTATCAGTGAGAACACGCGGTGTTTGTTTTTCTGTTCTCGTGTTATTTTTCTGAGAATGATATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATTCTTTTTTATGGCCACATAGTATTCTGTGGTGTATATGGGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCATTTGGGTAGGTTCCAAGTCTTTGCTAATTTTGAAATTATCATTTCACAGCTTAATTTCTGATGGTTCCTTGCTAGTATTTAGAAATACAATTGATTTTTTTATGTTGATCTTAAAAAATTGCAAGCTTACCTATCTTGTTTATTAGATCTAGTAACTTATTTGTAGATTCCATTGGGTTTTCTACAAATAGACTCATGTTGCCTAAGAATAAAGGCTTACTTTTTTCCCACTATGAATCCTTTTTATTTGTATTTTTTTCCTTGCCTTATTGCACTGGCTAGAATCTAAAGTATAATGTTGAACAGACATGGTGAGAGCAGATATTCTTACAACTGACCCACACTTAGGTTTGTGGAGAAAGCACTCAGTCTTTCACCATTAAGTATGTTAACTGTACTTAGTTAACTGTAGGGC
BRCA2, LOC106721785
Insertion
(non-coding transcript variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
LOC106721785, BRCA2
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA2, LOC106721785
Deletion
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
LOC106721785, BRCA2
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Insertion
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
+1 more
GUncertain significance
BRCA2, LOC106721785
Deletion
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Indel
(5 prime UTR variant)
not specified
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GBenign
BRCA2, LOC106721785
Deletion
(5 prime UTR variant)
not specified
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
LOC106721785, BRCA2
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
+1 more
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Deletion
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
+1 more
GLikely benign
LOC106721785, BRCA2
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Deletion
(splice donor variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(5 prime UTR variant)
Hereditary breast ovarian cancer syndrome
+1 more
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(splice donor variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(splice donor variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(splice donor variant)
Hereditary breast ovarian cancer syndrome
+1 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Single nucleotide variant
(splice donor variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group D1
+2 more
GConflicting classifications of pathogenicity
BRCA2, LOC106721785
Deletion
(intron variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Microsatellite
(intron variant)
Hereditary breast ovarian cancer syndrome
GLikely benign
BRCA2, LOC106721785
Single nucleotide variant
(intron variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
BRCA2, LOC106721785
Microsatellite
(intron variant)
Hereditary breast ovarian cancer syndrome
GUncertain significance
LOC106721785, BRCA2
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
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