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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALX3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ALX3
(L246fs)
Deletion
(frameshift variant)
Frontorhiny
GLikely pathogenic
ALX3
(R196W)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
(T193fs)
Microsatellite
(frameshift variant)
Frontorhiny
GPathogenic
ALX3
(Y181*)
Single nucleotide variant
(nonsense)
Frontorhiny
GPathogenic
ALX3
(R183W)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
(L168V)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
(N203S)
Single nucleotide variant
(missense variant)
Frontorhiny
GPathogenic
ALX3
Single nucleotide variant
(splice acceptor variant)
Frontorhiny
GPathogenic
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