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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA, LOC107988032
(V2616M +1 more)
Single nucleotide variant
(missense variant)
Frontometaphyseal dysplasia
+6 more
GUncertain significance
FLNA
(G1461S)
Single nucleotide variant
(missense variant)
FG syndrome 2
GUncertain significance
FLNA
(R1087H)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type II
+4 more
GConflicting classifications of pathogenicity
FLNA
(R467C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
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