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Links from MedGen

Items: 1 to 100 of 2072

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA
(W41*)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
GPathogenic
FLNA
(E981*)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
GPathogenic
LOC107988032, FLNA
(V2621fs +1 more)
Duplication
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
GPathogenic
FLNA
(S377*)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
GLikely pathogenic
FLNA
Deletion
(splice donor variant)
Heterotopia, periventricular, X-linked dominant
GUncertain significance
FLNA
(D918fs)
Duplication
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
GPathogenic
FLNA
Single nucleotide variant
(synonymous variant)
Frontometaphyseal dysplasia 1
+8 more
GUncertain significance
FLNA
(Q1182*)
Single nucleotide variant
(nonsense)
Heterotopia, periventricular, X-linked dominant
GLikely pathogenic
FLNA
(V2508fs +1 more)
Duplication
(frameshift variant)
Heterotopia, periventricular, X-linked dominant
GPathogenic
FLNA
Deletion
(intron variant)
Oto-palato-digital syndrome, type II
+3 more
GBenign
FLNA, HCFC1
+10 more
Duplication
Methylmalonic acidemia with homocystinuria, type cblX
GUncertain significance
ATP6AP1, DNASE1L1
+13 more
Duplication
Oto-palato-digital syndrome, type II
+3 more
GUncertain significance
EMD, FLNA
Duplication
Oto-palato-digital syndrome, type II
+3 more
GUncertain significance
FLNA
Deletion
Oto-palato-digital syndrome, type II
+3 more
GPathogenic
FLNA
Deletion
Oto-palato-digital syndrome, type II
+3 more
GPathogenic
ARHGAP4, ATP6AP1
+18 more
Duplication
Oto-palato-digital syndrome, type II
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Oto-palato-digital syndrome, type II
+3 more
GLikely benign
ABCD1, ARHGAP4
+73 more
Deletion
X-linked Emery-Dreifuss muscular dystrophy
+8 more
GPathogenic
FLNA
Single nucleotide variant
(synonymous variant)
Oto-palato-digital syndrome, type II
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Oto-palato-digital syndrome, type II
+3 more
GLikely benign
FLNA
(T1569N)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GUncertain significance
FLNA
(P2496L +1 more)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GUncertain significance
FLNA
(L889F)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GBenign
FLNA
(V2004M +1 more)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GBenign
FLNA
Single nucleotide variant
(intron variant)
Oto-palato-digital syndrome, type II
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Oto-palato-digital syndrome, type II
+3 more
GBenign
FLNA
(V1445G)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Oto-palato-digital syndrome, type II
+3 more
GLikely benign
FLNA
(S1342G)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+3 more
GUncertain significance
FLNA
Single nucleotide variant
(intron variant)
Oto-palato-digital syndrome, type II
+3 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA, LOC107988032
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Deletion
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(F2384I +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(K1164R)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(G2283D +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(R1753Q +1 more)
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, LOC107988032
(P2545A +1 more)
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
(Y2371C +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
Deletion
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GBenign
FLNA, LOC107988032
(R2590K +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
+4 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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
(D669E)
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
+4 more
GConflicting classifications of pathogenicity
FLNA, LOC107988032
(T2619R +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GBenign
FLNA, LOC107988032
(L2613V +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(V1663M +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(A2453T +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
(G1492D)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA, LOC107988032
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(V416L)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+4 more
GConflicting classifications of pathogenicity
FLNA
(T2054I +1 more)
Single nucleotide variant
(missense 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
+4 more
GBenign/Likely 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
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(E32K)
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
(I2393N +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(M660V)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(G2503S +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
(T341I)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(A1398P)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(Q1933R +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(I925F)
Single nucleotide variant
(missense 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, LOC107988032
(A2536D +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
(C1114W)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(D673E)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+4 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(K1590N)
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
(T471A)
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
Single nucleotide variant
(intron variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(G764A)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GBenign
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
(Q668P)
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
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GLikely benign
FLNA
Microsatellite
(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
(N2389D +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
FLNA
(G534V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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
(H1842Q +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
(V453I)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
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