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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALX1
Deletion
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
GPathogenic
ALX1, LOC124629423
(Q51*)
Single nucleotide variant
(nonsense)
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
GLikely pathogenic
ALX1
Single nucleotide variant
(splice acceptor variant)
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
GPathogenic
ALX1, LOC124629423
(R64L)
Single nucleotide variant
(missense variant)
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
+3 more
GBenign/Likely benign
ALX1
Single nucleotide variant
(splice donor variant)
Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
GPathogenic
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