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Links from MedGen

Items: 1 to 100 of 304

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FH
(S11*)
Single nucleotide variant
(nonsense)
Fumarase deficiency
GLikely pathogenic
FH
(D425V)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GLikely pathogenic
FH
(G280fs)
Deletion
(frameshift variant)
Fumarase deficiency
GLikely pathogenic
FH
(L14fs)
Insertion
(frameshift variant)
Fumarase deficiency
GLikely pathogenic
FH
(R10fs)
Indel
(frameshift variant)
Fumarase deficiency
+1 more
GConflicting classifications of pathogenicity
FH
(D113fs)
Deletion
(frameshift variant)
Fumarase deficiency
GLikely pathogenic
FH
(E495*)
Single nucleotide variant
(nonsense)
Fumarase deficiency
GLikely pathogenic
FH
(D498G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(G288S)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
FH
(M164fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FH
(P89S)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+2 more
GUncertain significance
FH
Insertion
(intron variant)
Fumarase deficiency
+1 more
GLikely benign
FH
(M506R)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
FH
Single nucleotide variant
(splice acceptor variant)
Fumarase deficiency
+1 more
GPathogenic/Likely pathogenic
FH
(F344L)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+1 more
GUncertain significance
FH
Microsatellite
(intron variant)
FH-related condition
+4 more
GLikely benign
FH
(I93M)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
FH
(M266T)
Single nucleotide variant
(missense variant)
Ovarian cancer
+3 more
GConflicting classifications of pathogenicity
FH
(M259T)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+3 more
GUncertain significance
FH
(T236I)
Single nucleotide variant
(missense variant)
Hereditary leiomyomatosis and renal cell cancer
+3 more
GUncertain significance
FH
(I487V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FH
(L303F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FH
(S222P)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GLikely pathogenic
FH
(I231L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
FH
(Y68C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(K447R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
FH
(D216E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(A327T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(A123P)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
FH
(I201V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(K80T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(T85R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(A95V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(A200V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(A420V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FH
(G302S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(A124T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(P34S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(I357V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FH
(A320S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(K80N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
Single nucleotide variant
(splice donor variant)
Fumarase deficiency
+2 more
GPathogenic/Likely pathogenic
FH
(K61Q)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
FH
(M151T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(G302D)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FH
(R421M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(D55N)
Single nucleotide variant
(missense variant)
Fumarase deficiency
GUncertain significance
FH
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
FH
(P137L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
(H135Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FH
(V15A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FH
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FH
Deletion
(inframe_indel)
Fumarase deficiency
GLikely pathogenic
FH
Single nucleotide variant
(3 prime UTR variant)
Hereditary leiomyomatosis and renal cell cancer
+1 more
GUncertain significance
FH
Single nucleotide variant
Hereditary leiomyomatosis and renal cell cancer
+2 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(5 prime UTR variant)
Hereditary leiomyomatosis and renal cell cancer
+1 more
GUncertain significance
FH
(N390S)
Single nucleotide variant
(missense variant)
Fumarase deficiency
+1 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
FH
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
FH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FH
Duplication
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FH
(R10C)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(L492V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
Deletion
not provided
GPathogenic
CHML, EXO1
+4 more
Duplication
Fumarase deficiency
GUncertain significance
FH
Deletion
Fumarase deficiency
GPathogenic
CHML, EXO1
+4 more
Deletion
Fumarase deficiency
GPathogenic
CHML, EXO1
+6 more
Deletion
Fumarase deficiency
GPathogenic
FH
Deletion
Fumarase deficiency
GPathogenic
FH
(V255I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FH
(A25T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FH
(A23T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(L22*)
Single nucleotide variant
(nonsense)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
FH
(A20V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(P192S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FH
(G144E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
FH
(L315V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(V106A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FH
Duplication
(splice donor variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FH
(K292Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FH
(I98M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(I357T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(S35W)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(R343Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FH
(R87H)
Single nucleotide variant
(missense variant)
Ovarian cancer
+3 more
GConflicting classifications of pathogenicity
FH
(E499K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FH
(N40K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(synonymous variant)
Fumarase deficiency
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
Fumarase deficiency
+1 more
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
Fumarase deficiency
+1 more
GLikely benign
FH
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
FH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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