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Links from Gene

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAF8
(V169L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
GUncertain significance
TAF8
Single nucleotide variant
(splice acceptor variant)
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
GLikely pathogenic
TAF8
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
GPathogenic
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