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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLCN
(K508del +1 more)
Deletion
(inframe_deletion)
Birt-Hogg-Dube syndrome
+3 more
GPathogenic/Likely pathogenic
FLCN
(K508R +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+4 more
GConflicting classifications of pathogenicity
FLCN
(P498L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GUncertain significance
FLCN
Single nucleotide variant
(splice donor variant)
Familial spontaneous pneumothorax
+2 more
GPathogenic/Likely pathogenic
FLCN
Single nucleotide variant
(splice donor variant)
Birt-Hogg-Dube syndrome
+3 more
GPathogenic/Likely pathogenic
FLCN
(R477* +1 more)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic
FLCN
(Y463* +1 more)
Single nucleotide variant
(nonsense)
Birt-Hogg-Dube syndrome 1
+4 more
GPathogenic
FLCN
(L460fs +1 more)
Microsatellite
(frameshift variant)
Birt-Hogg-Dube syndrome
+2 more
GPathogenic
FLCN
(R446G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLCN
(L467fs +1 more)
Duplication
(frameshift variant)
Birt-Hogg-Dube syndrome 1
+3 more
GPathogenic/Likely pathogenic
FLCN
(V455fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FLCN
(H447fs +1 more)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
FLCN
(H447fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+7 more
GPathogenic
FLCN
(L418fs +1 more)
Deletion
(frameshift variant)
Birt-Hogg-Dube syndrome
+2 more
GPathogenic
FLCN
(A412fs +1 more)
Duplication
(frameshift variant)
Birt-Hogg-Dube syndrome
+1 more
GPathogenic/Likely pathogenic
FLCN
(M394fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
FLCN
Microsatellite
(intron variant)
Birt-Hogg-Dube syndrome
+3 more
GPathogenic/Likely pathogenic
FLCN
Deletion
(intron variant)
not provided
GUncertain significance
FLCN
Single nucleotide variant
(splice donor variant)
Birt-Hogg-Dube syndrome
+1 more
GLikely pathogenic
FLCN
(V384fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
FLCN
(W376R +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
+1 more
GUncertain significance
FLCN
Single nucleotide variant
(splice donor variant)
Birt-Hogg-Dube syndrome
+6 more
GPathogenic
FLCN
(M352R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FLCN
(R341Q +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome 1
+3 more
GConflicting classifications of pathogenicity
FLCN
(R359fs +1 more)
Deletion
(frameshift variant)
Birt-Hogg-Dube syndrome
+2 more
GPathogenic
FLCN
(G319fs +1 more)
Duplication
(frameshift variant)
not provided
+3 more
GPathogenic
FLCN
(P329fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
FLCN
(E275fs +1 more)
Indel
(frameshift variant)
not provided
GLikely pathogenic
FLCN
(S267fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
FLCN
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic
FLCN
Single nucleotide variant
(splice donor variant)
Birt-Hogg-Dube syndrome
+7 more
GPathogenic/Likely pathogenic
FLCN
(W251* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
FLCN
(R239C +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
FLCN
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
FLCN
(T174fs +1 more)
Deletion
(frameshift variant)
Birt-Hogg-Dube syndrome
+1 more
GPathogenic/Likely pathogenic
FLCN
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
FLCN
(F152fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
FLCN
(D99fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
FLCN
(A90S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
FLCN
(S79fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
FLCN
(A64fs)
Deletion
(frameshift variant)
not provided
+6 more
GPathogenic/Likely pathogenic
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