"PreventionGenetics, part of Exact Sciences"[submitter] AND "COPA"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 734285	NM_004371.4(COPA):c.3483C>T (p.Asp1161=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GLikely benign
Select item 2635878	NM_004371.4(COPA):c.3329A>G (p.Asn1110Ser)	COPA (N1110S +1 more)	Single nucleotide variant (missense variant)	COPA-related disorder	GUncertain significance
Select item 1170472	NM_004371.4(COPA):c.3192G>A (p.Leu1064=)	COPA	Single nucleotide variant (synonymous variant)	COPA-related disorder +1 more	GBenign/Likely benign
Select item 2635841	NM_004371.4(COPA):c.2693C>A (p.Ala898Glu)	COPA (A898E +1 more)	Single nucleotide variant (missense variant)	COPA-related disorder	GUncertain significance
Select item 476025	NM_004371.4(COPA):c.2531G>A (p.Gly844Asp)	COPA (G853D +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 719756	NM_004371.4(COPA):c.2483G>A (p.Gly828Glu)	COPA (G837E +1 more)	Single nucleotide variant (missense variant)	COPA-related disorder +1 more	GLikely benign
Select item 3054090	NM_004371.4(COPA):c.2477-7_2477-6insA	COPA	Insertion (intron variant)	COPA-related disorder	GLikely benign
Select item 784958	NM_004371.4(COPA):c.2420A>C (p.Asn807Thr)	COPA (N807T +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GLikely benign
Select item 1504150	NM_004371.4(COPA):c.2373T>G (p.Asn791Lys)	COPA (N800K +1 more)	Single nucleotide variant (missense variant)	COPA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3043049	NM_004371.4(COPA):c.1137T>C (p.Leu379=)	COPA	Single nucleotide variant (synonymous variant)	COPA-related disorder	GLikely benign
Select item 542646	NM_004371.4(COPA):c.994A>G (p.Met332Val)	COPA (M332V)	Single nucleotide variant (missense variant)	COPA-related disorder +1 more	GBenign
Select item 1164507	NM_004371.4(COPA):c.432C>T (p.His144=)	COPA	Single nucleotide variant (synonymous variant)	COPA-related disorder +1 more	GBenign/Likely benign
Select item 542644	NM_004371.4(COPA):c.192A>G (p.Pro64=)	COPA	Single nucleotide variant (synonymous variant)	COPA-related disorder +1 more	GBenign