"GeneDx"[submitter] AND "LOC130055497"[gene] - ClinVar

	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 452693	NM_020529.3(NFKBIA):c.33G>A (p.Trp11Ter)	LOC130055497, NFKBIA (W11*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 280143	NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)	LOC130055497, NFKBIA (Q9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1310121	NM_020529.3(NFKBIA):c.14C>T (p.Ala5Val)	LOC130055497, NFKBIA (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar