"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628122	NM_004371.4(COPA):c.3615+49A>G	COPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628117	NM_004371.4(COPA):c.2754+52G>A	COPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1165020	NM_004371.4(COPA):c.2476+11A>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GBenign
Select item 2628134	NM_004371.4(COPA):c.1528+44T>C	COPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688140	NM_004371.4(COPA):c.387-97C>T	COPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1167833	NM_004371.4(COPA):c.363C>T (p.Asn121=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GBenign
Select item 2628307	NM_004371.4(COPA):c.310-77T>C	COPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628113	NM_004371.4(COPA):c.228+35A>C	COPA	Single nucleotide variant (intron variant)	not specified	GBenign

ClinVar