Related gene-specific medical variations for Gene (Select 129685) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067953	NM_138572.3(TAF8):c.365-1G>T	TAF8	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GLikely pathogenic
Select item 2637896	NM_138572.3(TAF8):c.45+5G>A	TAF8	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy	GPathogenic