"GeneDx"[submitter] AND "INPP5F"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 1232724	NM_014937.4(INPP5F):c.2989A>G (p.Asn997Asp)	INPP5F (N387D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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