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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBFOX2
(P336L +11 more)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
RBFOX2
(P358S +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RBFOX2
(D337E +22 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(P321L +11 more)
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
RBFOX2
(A336V +22 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RBFOX2
(P295A +12 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(A282S +12 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(P283S +12 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(N192S +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(E227Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
RBFOX2
(S126fs +5 more)
Duplication
(frameshift variant)
Inborn genetic diseases
GPathogenic
RBFOX2
(Q165R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(G157C +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(G133R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(T110A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(P104L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(I50M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RBFOX2
(M21V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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