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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGF8
(A65V +4 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 1
GLikely benign
GLI2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ZIC2
Single nucleotide variant
(3 prime UTR variant)
not specified
GUncertain significance
CDON
(I1221N +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
GLI2
(R720H +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GAS1
(G259E)
Single nucleotide variant
(missense variant)
Holoprosencephaly 1
GUncertain significance
GAS1
(T200R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 1
GUncertain significance
FGF8
(T229M +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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