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Links from MedGen

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA
(I806V)
Single nucleotide variant
(missense variant)
FG syndrome 2
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Cardiac valvular dysplasia, X-linked
+9 more
GUncertain significance
FLNA, LOC107988032
(V2560A +1 more)
Single nucleotide variant
(missense variant)
FG syndrome 2
+5 more
GUncertain significance
FLNA
(P1707S +1 more)
Single nucleotide variant
(missense variant)
FG syndrome 2
GUncertain significance
FLNA
(E1577G)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+9 more
GUncertain significance
FLNA
(T1542I)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+10 more
GConflicting classifications of pathogenicity
FLNA
(I822V)
Single nucleotide variant
(missense variant)
Terminal osseous dysplasia-pigmentary defects syndrome
+9 more
GUncertain significance
FLNA
(V2424M +1 more)
Single nucleotide variant
(missense variant)
FG syndrome 2
GUncertain significance
FLNA
(V1914M +1 more)
Single nucleotide variant
(missense variant)
FG syndrome 2
+6 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(synonymous variant)
Terminal osseous dysplasia-pigmentary defects syndrome
+9 more
GLikely benign
FLNA
(V864F)
Single nucleotide variant
(missense variant)
FG syndrome 2
+9 more
GConflicting classifications of pathogenicity
FLNA
(H354Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+11 more
GUncertain significance
FLNA
(G1461S)
Single nucleotide variant
(missense variant)
FG syndrome 2
GUncertain significance
FLNA
(E798K)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+10 more
GConflicting classifications of pathogenicity
FLNA
(S1166fs)
Deletion
(frameshift variant)
FG syndrome 2
GLikely pathogenic
FLNA
(G562R)
Single nucleotide variant
(missense variant)
FG syndrome 2
GLikely benign
FLNA
(K994R)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+9 more
GConflicting classifications of pathogenicity
FLNA
(A1086T)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+4 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+10 more
GLikely benign
FLNA
(T608M)
Single nucleotide variant
(missense variant)
not provided
+10 more
GUncertain significance
FLNA, LOC107988032
(V2616M +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GUncertain significance
FLNA
(K165R)
Single nucleotide variant
(missense variant)
Frontometaphyseal dysplasia 1
+10 more
GUncertain significance
FLNA
(T402A)
Single nucleotide variant
(missense variant)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
+8 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
Frontometaphyseal dysplasia 1
+12 more
GLikely benign
FLNA
(F1438L)
Single nucleotide variant
(missense variant)
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
+8 more
GUncertain significance
FLNA
(R467C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
FLNA
(M424V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+11 more
GConflicting classifications of pathogenicity
FLNA
(T992A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FLNA
(R340H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FLNA
(R708W)
Single nucleotide variant
(missense variant)
FLNA-related disorder
+6 more
GConflicting classifications of pathogenicity
FLNA
(Q182H)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+6 more
GUncertain significance
FLNA
(P2118S +1 more)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+10 more
GConflicting classifications of pathogenicity
FLNA
(R1087H)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+4 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(synonymous variant)
Heterotopia, periventricular, X-linked dominant
+10 more
GLikely benign
FLNA
Single nucleotide variant
(intron variant)
Oto-palato-digital syndrome, type II
+10 more
GUncertain significance
FLNA
(R2280H +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+11 more
GConflicting classifications of pathogenicity
FLNA
(L1224F)
Single nucleotide variant
(missense variant)
FG syndrome 2
+9 more
GUncertain significance
FLNA
(N931I)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+8 more
GUncertain significance
FLNA
(K493N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
FLNA
(G524E)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
FLNA
(R2234Q +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+11 more
GConflicting classifications of pathogenicity
FLNA
(V752I)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
FLNA
Single nucleotide variant
(synonymous variant)
FG syndrome 2
+12 more
GBenign/Likely benign
FLNA, LOC107988032
(C2535Y +1 more)
Single nucleotide variant
(missense variant)
Frontometaphyseal dysplasia
+12 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(synonymous variant)
not provided
+13 more
GBenign/Likely benign
FLNA
(V804I)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+10 more
GConflicting classifications of pathogenicity
FLNA
(R190Q)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+10 more
GConflicting classifications of pathogenicity
FLNA
(P2415S +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+14 more
GBenign/Likely benign
FLNA
(N2109S +1 more)
Single nucleotide variant
(missense variant)
not provided
+12 more
GLikely benign
FLNA
(A1141T)
Single nucleotide variant
(missense variant)
not provided
+12 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
not specified
+13 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(intron variant)
Oto-palato-digital syndrome, type II
+10 more
GBenign/Likely benign
FLNA
(T839M)
Single nucleotide variant
(missense variant)
not provided
+12 more
GBenign/Likely benign
FLNA
(K2232R +1 more)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+12 more
GConflicting classifications of pathogenicity
FLNA
(T1506I)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+11 more
GConflicting classifications of pathogenicity
FLNA
(R301W)
Single nucleotide variant
(missense variant)
not provided
+12 more
GConflicting classifications of pathogenicity
FLNA
Single nucleotide variant
(intron variant)
Frontometaphyseal dysplasia
+11 more
GBenign
FLNA, LOC107988032
Single nucleotide variant
(intron variant)
Frontometaphyseal dysplasia
+12 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
not provided
+12 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
not specified
+13 more
GBenign/Likely benign
FLNA
Single nucleotide variant
(synonymous variant)
not provided
+12 more
GBenign
FLNA
(S1991L)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+13 more
GBenign/Likely benign
FLNA
(C1108Y)
Single nucleotide variant
(missense variant)
not specified
+11 more
GConflicting classifications of pathogenicity
FLNA
(S1012L)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+13 more
GBenign/Likely benign
FLNA
(T429M)
Single nucleotide variant
(missense variant)
not specified
+13 more
GBenign/Likely benign
FLNA
(P1291L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GBenign/Likely benign
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