"GeneDx"[submitter] AND "LOC132089194"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 1294698	NM_001447.3(FAT2):c.9811+224C>A	FAT2, LOC132089194 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258753	NM_001447.3(FAT2):c.9811+206A>G	FAT2, LOC132089194 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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