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Links from MedGen

Items: 1 to 100 of 1855

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLCN
Duplication
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Duplication
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Duplication
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Duplication
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Deletion
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
Deletion
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
Deletion
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
Deletion
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Deletion
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
(L279F +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(S432F +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(A304T +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(P74T)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
FLCN
Deletion
(inframe_indel)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(K569Q +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(V441fs +1 more)
Deletion
(frameshift variant)
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(W376R +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(F142Y +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Duplication
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(S331C +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(Y561C +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(F231I +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(W299* +1 more)
Single nucleotide variant
(nonsense)
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
(P498S +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(C11R)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(I159M +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(E530V +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(K159R +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(G540S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(E543Q +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome 1
+1 more
GUncertain significance
FLCN
(P344Q +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(P112S)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant +1 more)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(S407I +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(E346K +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(A225V +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(S316R +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(W376C +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(H154D +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(K288* +1 more)
Single nucleotide variant
(nonsense)
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
(V193fs +1 more)
Deletion
(frameshift variant)
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely pathogenic
FLCN
(A89P)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(T568R +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(T18S)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(Q425H +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(E70V)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(M530T +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(D80G)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(A89G)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(D37fs)
Duplication
(frameshift variant)
Birt-Hogg-Dube syndrome
GPathogenic
FLCN
(L536P +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(G149A +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(Q408P +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
FLCN
(S119I)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(intron variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(A488G +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(F552L +1 more)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
(E70Q)
Single nucleotide variant
(missense variant)
Birt-Hogg-Dube syndrome
GUncertain significance
FLCN
Single nucleotide variant
(synonymous variant)
Birt-Hogg-Dube syndrome
GLikely benign
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