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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FH
Duplication
(inframe_insertion)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
FH
(Q386K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(Q376P)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+3 more
GConflicting classifications of pathogenicity
FH
(R350Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FH
(R233H)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
FH
Single nucleotide variant
(splice donor variant)
Fumarase deficiency
+1 more
GPathogenic/Likely pathogenic
FH
(D179N)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
Single nucleotide variant
(missense variant)
Hereditary leiomyomatosis and renal cell cancer
+2 more
GPathogenic/Likely pathogenic
FH
(R101*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
FH
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
FH
(R87C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FH
(V84A)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+2 more
GUncertain significance
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