U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VARS1
(E1096D)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GUncertain significance
VARS1
(S864*)
Indel
(nonsense)
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
GLikely pathogenic