"3billion"[submitter] AND "ARCN1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320069	NM_001655.5(ARCN1):c.231AGA[1] (p.Glu78del)	ARCN1 (E78del)	Microsatellite (inframe_deletion +1 more)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GLikely pathogenic
Select item 1687551	NM_001655.5(ARCN1):c.522_525del (p.Glu174fs)	ARCN1 (E174fs +1 more)	Microsatellite (frameshift variant)	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	GLikely pathogenic