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Links from MedGen

Items: 1 to 100 of 2612

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA
(N931del)
Microsatellite
(inframe_deletion)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(splice donor variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely pathogenic
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(P2034H +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(C1260W)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(G1101C)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(Q1488E)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GBenign
FLNA
(Q1809R +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(P480T)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(I2166fs +1 more)
Deletion
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GPathogenic
FLNA
(R2001L +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA, LOC107988032
(S2550K +1 more)
Indel
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(S6A)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(E27D)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(G2008E +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(V2432G +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(V1612L)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(V647G)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(V2132fs +1 more)
Microsatellite
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GPathogenic
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(L1900V +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(K1937R +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(D628Y)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(R884S)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GBenign
FLNA
Single nucleotide variant
(splice donor variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely pathogenic
FLNA
(E1192K)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(P1355L)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA, LOC107988032
(G2616A +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(A843S)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA, LOC107988032
(V2522del +1 more)
Deletion
(inframe_deletion)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(Q182R)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(M1950K +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(R301Q)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GBenign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(P1929S +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(S1068T)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(P960R)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(V1445M)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(V306fs)
Microsatellite
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GPathogenic
FLNA
(V752L)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(E162K)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA, LOC107988032
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(H929R)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Microsatellite
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(P2324L +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(G390V)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(A799T)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(A644V)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(T2221S +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(R1745P +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(T518A)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(T401A)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(Y1720* +1 more)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
+3 more
GPathogenic
FLNA
(N224S)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(V486A)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(A2449T +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(A677fs)
Duplication
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GPathogenic
FLNA
(R91C)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(R1633C)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(K1452E)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(S2470F +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Deletion
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA, LOC107988032
(A2547V +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(I365V)
Single nucleotide variant
(missense variant)
FLNA-related disorder
+4 more
GConflicting classifications of pathogenicity
FLNA
(R1464H)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GBenign
FLNA
(A2197T +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
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