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Items: 1 to 100 of 3291

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060143, LOC130060144
+963 more
Copy number gain
See cases
GPathogenic
MIR6883, MIR744
+923 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+652 more
Copy number loss
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC126862500, LOC126862501
+461 more
Copy number gain
See cases
GPathogenic
ACADVL, ACAP1
+229 more
Copy number loss
See cases
GPathogenic
ACADVL, ACAP1
+182 more
Copy number gain
See cases
GLikely pathogenic
ALOX12B, ALOX15B
+191 more
Copy number loss
See cases
GPathogenic
ATP1B2, CD68
+36 more
Copy number gain
See cases
GUncertain significance
ATP1B2, DNAH2
+17 more
Copy number loss
Vascular endothelial growth factor (VEGF) inhibitor response
Gdrug response
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GBenign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GUncertain significance
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GUncertain significance
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
Single nucleotide variant
not provided
GBenign
TP53
Duplication
Li-Fraumeni syndrome 1
+3 more
GBenign
TP53
Single nucleotide variant
TP53-related condition
GLikely benign
TP53
Single nucleotide variant
TP53-related condition
GLikely benign
TP53
Duplication
Li-Fraumeni syndrome
GPathogenic
TP53
Single nucleotide variant
not provided
+1 more
GLikely benign
TP53
Deletion
Li-Fraumeni syndrome
GLikely pathogenic
WRAP53, LOC126862483
+3 more
Deletion
Li-Fraumeni syndrome
GPathogenic
TP53
Single nucleotide variant
(3 prime UTR variant)
TP53-related condition
+3 more
GConflicting classifications of pathogenicity
TP53
Single nucleotide variant
(3 prime UTR variant +1 more)
TP53-related condition
GLikely benign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
+1 more
GConflicting classifications of pathogenicity
TP53
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GLikely benign
TP53
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Deletion
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GBenign
TP53
Deletion
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GBenign
TP53
Deletion
(3 prime UTR variant)
Li-Fraumeni syndrome
GLikely benign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
+2 more
GBenign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GLikely benign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GLikely benign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GBenign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GBenign
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
(M1fs)
Deletion
(frameshift variant +3 more)
B-cell chronic lymphocytic leukemia
GPathogenic
TP53
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
TP53
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
TP53
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
TP53
Duplication
(3 prime UTR variant)
not specified
GUncertain significance
LOC126862483, LOC130060171
+3 more
Deletion
Li-Fraumeni syndrome
GPathogenic
ALOX12B, ALOX15B
+141 more
Deletion
Li-Fraumeni syndrome
GPathogenic
TP53
Duplication
Li-Fraumeni syndrome
GUncertain significance
TP53
Deletion
Li-Fraumeni syndrome
GPathogenic
TP53
Duplication
Li-Fraumeni syndrome
GUncertain significance
TP53
Deletion
Li-Fraumeni syndrome
GPathogenic
LOC112533665, LOC116276454
+141 more
Deletion
Li-Fraumeni syndrome
+2 more
GPathogenic
TP53
Deletion
Li-Fraumeni syndrome
GLikely pathogenic
TP53
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TP53
Single nucleotide variant
(stop lost +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
TP53
Duplication
(frameshift variant +2 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(stop lost +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(stop lost +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(stop lost +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
Single nucleotide variant
(stop lost +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
TP53
Duplication
(frameshift variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
Single nucleotide variant
(synonymous variant +1 more)
Li-Fraumeni syndrome
GLikely benign
TP53
(D234E +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
TP53
(D234fs +3 more)
Insertion
(frameshift variant +1 more)
Li-Fraumeni syndrome 1
GUncertain significance
TP53
(D234Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
TP53
(D234fs +3 more)
Duplication
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
TP53
Insertion
(nonsense +1 more)
Li-Fraumeni syndrome
GUncertain significance
TP53
(D234H +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(D261N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
TP53
(D234fs +3 more)
Deletion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
TP53
(S260P +3 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Li-Fraumeni syndrome
GUncertain significance
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