C4693390[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488423	NM_001079537.2(TRAPPC6B):c.150-2A>G	TRAPPC6B	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	GPathogenic
Select item 488424	NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter)	TRAPPC6B (R42*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	GPathogenic