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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC111811965, MIR4733HG
+1 more
(F17S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TP53
(G148R +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
+1 more
GConflicting classifications of pathogenicity
POLD1
(L606M +1 more)
Single nucleotide variant
(missense variant +1 more)
Colorectal cancer, susceptibility to, 10
GConflicting classifications of pathogenicity
BRCA1
Single nucleotide variant
(splice donor variant +1 more)
Hereditary breast ovarian cancer syndrome
+4 more
GConflicting classifications of pathogenicity
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