"GeneDx"[submitter] AND "BOLA2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 379386	NM_007074.4(CORO1A):c.336A>G (p.Pro112=)	BOLA2, CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency +2 more	GBenign
Select item 253525	GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3	SPN, CORO1A +28 more	Copy number gain	See cases	GPathogenic
Select item 253490	GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3	QPRT, ALDOA +28 more	Copy number gain	See cases	GPathogenic

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