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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FH
Duplication
(inframe_insertion)
FH-related condition
+5 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FH
(Q376P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(splice acceptor variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
FH
(R101P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
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