"GeneDx"[submitter] AND "LOC130055495"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 1283234	NM_020529.3(NFKBIA):c.336+104T>C	LOC130055495, NFKBIA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1228735	NM_020529.3(NFKBIA):c.336+59_336+60del	LOC130055495, NFKBIA	Microsatellite (intron variant)	not provided	GBenign

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