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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASXL3
(D291E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL3
(I433T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASXL3
(Q491*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
ASXL3
(P495fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ASXL3
(R1117*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
ASXL3
(R1467*)
Single nucleotide variant
(nonsense)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
+2 more
GPathogenic
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