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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLI2
(A117T)
Single nucleotide variant
(missense variant +1 more)
Microform holoprosencephaly
GUncertain significance
GLI2
(A75fs +1 more)
Duplication
(frameshift variant)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(R264* +1 more)
Single nucleotide variant
(nonsense)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(S690fs +2 more)
Deletion
(frameshift variant)
Microform holoprosencephaly
GLikely pathogenic
GLI2
(W746* +2 more)
Single nucleotide variant
(nonsense)
Microform holoprosencephaly
GLikely pathogenic
GLI2
Single nucleotide variant
(stop lost)
Microform holoprosencephaly
GLikely pathogenic
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