"GeneDx"[submitter] AND "LOC126861710"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 58236	GRCh38/hg38 13q12.12-12.13(chr13:24635449-25592788)x3	AMER2, ATP12A +32 more	Copy number gain	See cases	GUncertain significance
Select item 1259583	NM_018451.5(CENPJ):c.568+227dup	CENPJ, LOC126861710	Duplication (intron variant)	not provided	GBenign
Select item 1193386	NM_018451.5(CENPJ):c.568+73A>G	CENPJ, LOC126861710	Single nucleotide variant (intron variant)	not provided	GLikely benign

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