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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FH
(L507P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
FH
(E484fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FH
Duplication
(inframe_insertion)
FH-related condition
+5 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
FH
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
FH
Single nucleotide variant
(missense variant)
FH-related condition
+3 more
GPathogenic/Likely pathogenic
FH
(N400fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FH
Single nucleotide variant
(missense variant)
Hereditary leiomyomatosis and renal cell cancer
+2 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
FH
(Q376*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
FH
(L356*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
FH
(R343*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
FH
Single nucleotide variant
(missense variant)
FH-related condition
+4 more
GPathogenic/Likely pathogenic
FH
Single nucleotide variant
(missense variant)
Hereditary leiomyomatosis and renal cell cancer
+3 more
GPathogenic/Likely pathogenic
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
FH
(F305fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
FH
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
FH
(A298P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
FH
(Q254*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FH
(Q246fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FH
(R233H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
FH
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
FH
Single nucleotide variant
not provided
GUncertain significance
FH
(S187*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
FH
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
FH
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FH
(G146E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FH
(A70T)
Single nucleotide variant
(missense variant)
Ovarian cancer
+2 more
GConflicting classifications of pathogenicity
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