"GeneDx"[submitter] AND "C4BPA"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1229349	NM_000715.4(C4BPA):c.11C>A (p.Pro4Gln)	C4BPA (P4Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1278073	NM_000715.4(C4BPA):c.142+245T>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267035	NM_000715.4(C4BPA):c.143-258C>T	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249174	NM_000715.4(C4BPA):c.328+226del	C4BPA	Deletion (intron variant)	not provided	GBenign
Select item 1288103	NM_000715.4(C4BPA):c.428+37T>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276972	NM_000715.4(C4BPA):c.515-36G>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402444	NM_000715.4(C4BPA):c.675T>C (p.Gly225=)	C4BPA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1175658	NM_000715.4(C4BPA):c.719G>A (p.Arg240His)	C4BPA (R240H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1271178	NM_000715.4(C4BPA):c.889+19A>G	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282338	NM_000715.4(C4BPA):c.889+141T>A	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402445	NM_000715.4(C4BPA):c.899T>C (p.Ile300Thr)	C4BPA (I300T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1238277	NM_000715.4(C4BPA):c.1068A>C (p.Pro356=)	C4BPA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279740	NM_000715.4(C4BPA):c.1274-95A>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234524	NM_000715.4(C4BPA):c.1274-63C>T	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280369	NM_000715.4(C4BPA):c.1621-101G>C	C4BPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic