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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLNA
(V1822L +1 more)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type I
GUncertain significance
FLNA
(A1188T)
Single nucleotide variant
(missense variant)
Melnick-Needles syndrome
+1 more
GPathogenic
FLNA
(C1122G)
Single nucleotide variant
(missense variant)
Oto-palato-digital syndrome, type I
GUncertain significance
FLNA
(P423S)
Single nucleotide variant
(missense variant)
Heterotopia, periventricular, X-linked dominant
+3 more
GUncertain significance
BMX, CXorf38
+821 more
Copy number gain
Klinefelter syndrome
GPathogenic
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