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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARHGEF2
(Q217P +4 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GUncertain significance
ARHGEF2, LOC122128443
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GBenign
ARHGEF2
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GBenign
ARHGEF2
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GBenign
ARHGEF2
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GBenign
ARHGEF2
(C278F +4 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GUncertain significance
ARHGEF2
(D128N +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GUncertain significance
ARHGEF2
Single nucleotide variant
(synonymous variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
+1 more
GBenign/Likely benign
ARHGEF2
Deletion
(splice donor variant)
Neurodevelopmental disorder with midbrain and hindbrain malformations
GPathogenic
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