"Centogene AG - the Rare Disease Company"[submitter] AND "PUS3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619235	NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)	PUS3, HYLS1 (S394fs +1 more)	Microsatellite (frameshift variant +1 more)	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	GLikely pathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic