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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FH
(G397R)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+3 more
GPathogenic/Likely pathogenic
FH
Single nucleotide variant
(splice donor variant)
Fumarase deficiency
+1 more
GPathogenic
FH
(S222P)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GLikely pathogenic
FH
(A194T)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+4 more
GConflicting classifications of pathogenicity
FH
(I93M)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
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