"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1308666	NM_021964.3(ZNF148):c.1624C>T (p.Gln542Ter)	LOC126806798, ZNF148 (Q500* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic
Select item 666563	NM_021964.3(ZNF148):c.1504C>T (p.Gln502Ter)	ZNF148 (Q460* +1 more)	Single nucleotide variant (nonsense)	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	GLikely pathogenic