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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASXL1
(P229L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASXL1
(V327fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ASXL1
(R417* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
ASXL1
(Q428fs +1 more)
Duplication
(frameshift variant)
Bohring-Opitz syndrome
+1 more
GConflicting classifications of pathogenicity
ASXL1
(S463N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL1
(G652S +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ASXL1
(P779L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ASXL1
(W796S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ASXL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ASXL1
(S1231F +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
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