U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FH
Duplication
(inframe_insertion)
Hereditary leiomyomatosis and renal cell cancer
+5 more
GConflicting classifications of pathogenicity
FH
(Q386K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(Q376P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
FH
(R350Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(R233H)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+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)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
FH
Single nucleotide variant
(splice donor variant)
Hereditary leiomyomatosis and renal cell cancer
+2 more
GPathogenic
FH
(R87C)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+2 more
GUncertain significance
FH
(V84A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination