"GeneDx"[submitter] AND "CORO1A"[gene] - ClinVar - NCBI

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Items: 19

	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 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	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 381252	NM_007074.4(CORO1A):c.804C>T (p.Ser268=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency +2 more	GBenign/Likely benign
Select item 508830	NM_007074.4(CORO1A):c.843C>T (p.Ile281=)	CORO1A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 513589	NM_007074.4(CORO1A):c.1007+13C>T	CORO1A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 379432	NM_007074.4(CORO1A):c.1065+14G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency +2 more	GBenign
Select item 450116	NM_007074.4(CORO1A):c.1066-10T>G	CORO1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 424440	NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile)	CORO1A (V397I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency +2 more	GConflicting classifications of pathogenicity
Select item 506972	NM_007074.4(CORO1A):c.1368G>A (p.Glu456=)	CORO1A	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 253669	GRCh37/hg19 16p11.2(chr16:29646320-30197341)x3	MAZ, TLCD3B +25 more	Copy number gain	See cases	GPathogenic
Select item 253535	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	SPN, HIRIP3 +25 more	Copy number loss	See cases	GPathogenic
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
Select item 253381	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x3	CORO1A, ASPHD1 +25 more	Copy number gain	See cases	GPathogenic
Select item 253374	GRCh37/hg19 16p11.2(chr16:29646320-30197341)x1	GDPD3, TBX6 +25 more	Copy number loss	See cases	GPathogenic