C3554373[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033349	NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)	CHD8 (R1582* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly +2 more	GPathogenic/Likely pathogenic
Select item 2572571	NM_001170629.2(CHD8):c.4001del (p.Leu1334fs)	CHD8 (L1055fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic