ClinVar for MedGen (Select 1800821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065463	NM_004371.4(COPA):c.1742T>A (p.Leu581Gln)	COPA (L581Q +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely pathogenic
Select item 3020046	NM_004371.4(COPA):c.3446A>G (p.Glu1149Gly)	COPA (E1149G +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3019755	NM_004371.4(COPA):c.2476+5G>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3019110	NM_004371.4(COPA):c.2953C>T (p.Arg985Cys)	COPA (R994C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3018248	NM_004371.4(COPA):c.3615A>G (p.Thr1205=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3017104	NM_004371.4(COPA):c.2397A>G (p.Ala799=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3017036	NM_004371.4(COPA):c.41-13C>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3016873	NM_004371.4(COPA):c.1606G>A (p.Asp536Asn)	COPA (D536N +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3014896	NM_004371.4(COPA):c.2919G>C (p.Leu973=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3014274	NM_004371.4(COPA):c.2013G>A (p.Lys671=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3013520	NM_004371.4(COPA):c.707-15C>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3012291	NM_004371.4(COPA):c.2823+9C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3008970	NM_004371.4(COPA):c.154+19del	COPA	Deletion (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3008415	NM_004371.4(COPA):c.2543A>T (p.Asp848Val)	COPA (D857V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3008113	NM_004371.4(COPA):c.2677-24_2677-18del	COPA	Microsatellite (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3008014	NM_004371.4(COPA):c.3480T>C (p.Tyr1160=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GBenign
Select item 3007491	NM_004371.4(COPA):c.1437G>A (p.Gln479=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3007055	NM_004371.4(COPA):c.3652A>G (p.Ile1218Val)	COPA (I1227V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 3005724	NM_004371.4(COPA):c.842+10T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3005016	NM_004371.4(COPA):c.2838A>G (p.Gln946=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3003255	NM_004371.4(COPA):c.301T>C (p.Phe101Leu)	COPA (F101L)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2998699	NM_004371.4(COPA):c.1222C>T (p.Pro408Ser)	COPA (P408S)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2995570	NM_004371.4(COPA):c.2012A>G (p.Lys671Arg)	COPA (K671R +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2994947	NM_004371.4(COPA):c.387-10T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2994718	NM_004371.4(COPA):c.2559G>T (p.Leu853Phe)	COPA (L853F +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2992043	NM_004371.4(COPA):c.1710C>T (p.Val570=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2986649	NM_004371.4(COPA):c.1073G>T (p.Arg358Leu)	COPA (R358L)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2984924	NM_004371.4(COPA):c.3541C>G (p.Pro1181Ala)	COPA (P1181A +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2980446	NM_004371.4(COPA):c.1220-8C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2970740	NM_004371.4(COPA):c.992A>G (p.Asn331Ser)	COPA (N331S)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2970469	NM_004371.4(COPA):c.1690C>G (p.Leu564Val)	COPA (L573V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2970284	NM_004371.4(COPA):c.2241G>A (p.Arg747=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2967440	NM_004371.4(COPA):c.307C>T (p.His103Tyr)	COPA (H103Y)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2964744	NM_004371.4(COPA):c.2794C>G (p.Leu932Val)	COPA (L932V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2960273	NM_004371.4(COPA):c.3258+6A>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2919919	NM_004371.4(COPA):c.3413C>A (p.Ala1138Asp)	COPA (A1147D +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2917292	NM_004371.4(COPA):c.1144-14C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2917031	NM_004371.4(COPA):c.3393C>T (p.Leu1131=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2916061	NM_004371.4(COPA):c.925+7G>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2914457	NM_004371.4(COPA):c.3671G>A (p.Arg1224His)	COPA (R1224H +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2914165	NM_004371.4(COPA):c.862C>T (p.Arg288Cys)	COPA (R288C)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2912429	NM_004371.4(COPA):c.497-8C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2909906	NM_004371.4(COPA):c.1706A>G (p.Tyr569Cys)	COPA (Y569C +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2906516	NM_004371.4(COPA):c.1528G>A (p.Ala510Thr)	COPA (E510K +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2900925	NM_004371.4(COPA):c.3516A>G (p.Ser1172=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2900565	NM_004371.4(COPA):c.1429G>A (p.Val477Ile)	COPA (V477I)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2893211	NM_004371.4(COPA):c.1575T>C (p.His525=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2892600	NM_004371.4(COPA):c.2602G>A (p.Asp868Asn)	COPA (D877N +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2889565	NM_004371.4(COPA):c.1221G>A (p.Ala407=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2888839	NM_004371.4(COPA):c.3196G>A (p.Val1066Met)	COPA (V1075M +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2881746	NM_004371.4(COPA):c.2379G>A (p.Lys793=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2881017	NM_004371.4(COPA):c.3054A>G (p.Thr1018=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2877330	NM_004371.4(COPA):c.2291C>T (p.Thr764Ile)	COPA (T773I +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2877294	NM_004371.4(COPA):c.1951C>G (p.Leu651Val)	COPA (L660V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2877116	NM_004371.4(COPA):c.1704C>A (p.Ile568=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2876606	NM_004371.4(COPA):c.3391C>T (p.Leu1131Phe)	COPA (L1131F +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2875135	NM_004371.4(COPA):c.2304T>C (p.Asp768=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2873678	NM_004371.4(COPA):c.2486G>A (p.Gly829Glu)	COPA (G829E +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2866669	NM_004371.4(COPA):c.926-6C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2864489	NM_004371.4(COPA):c.1302G>A (p.Ser434=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2859640	NM_004371.4(COPA):c.309+5G>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2856628	NM_004371.4(COPA):c.2755-16_2755-13del	COPA	Deletion (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2854693	NM_004371.4(COPA):c.2754G>A (p.Gln918=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2853353	NM_004371.4(COPA):c.1857A>T (p.Lys619Asn)	COPA (K628N +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2852894	NM_004371.4(COPA):c.1031T>A (p.Leu344Gln)	COPA (L344Q)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2850948	NM_004371.4(COPA):c.3394G>A (p.Gly1132Arg)	COPA (G1141R +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2847508	NM_004371.4(COPA):c.3093C>T (p.Ser1031=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2847345	NM_004371.4(COPA):c.646A>T (p.Thr216Ser)	COPA (T216S)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2841870	NM_004371.4(COPA):c.3664C>T (p.Gln1222Ter)	COPA (Q1222* +1 more)	Single nucleotide variant (nonsense)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2838698	NM_004371.4(COPA):c.2168-15T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2838049	NM_004371.4(COPA):c.3147+9G>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2836518	NM_004371.4(COPA):c.1735T>C (p.Tyr579His)	COPA (Y579H +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2834573	NM_004371.4(COPA):c.496+4_496+7dup	COPA	Duplication (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2832603	NM_004371.4(COPA):c.1430T>C (p.Val477Ala)	COPA (V477A)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2831065	NM_004371.4(COPA):c.1365G>A (p.Glu455=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2829985	NM_004371.4(COPA):c.707-6C>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2828870	NM_004371.4(COPA):c.2168-10C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2827322	NM_004371.4(COPA):c.1143+10C>A	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2827075	NM_004371.4(COPA):c.1128A>T (p.Ala376=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2817713	NM_004371.4(COPA):c.2073A>G (p.Glu691=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2814853	NM_004371.4(COPA):c.3402G>A (p.Lys1134=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2813846	NM_004371.4(COPA):c.309+6T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2810793	NM_004371.4(COPA):c.1079G>A (p.Gly360Asp)	COPA (G360D)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2810541	NM_004371.4(COPA):c.2930C>T (p.Pro977Leu)	COPA (P977L +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2808530	NM_004371.4(COPA):c.1293G>T (p.Arg431=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2808243	NM_004371.4(COPA):c.333C>T (p.Ala111=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2808137	NM_004371.4(COPA):c.2049G>A (p.Leu683=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2806361	NM_004371.4(COPA):c.1197T>C (p.Asp399=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2799571	NM_004371.4(COPA):c.2477-17G>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2796840	NM_004371.4(COPA):c.540T>C (p.Asp180=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2796694	NM_004371.4(COPA):c.1072C>A (p.Arg358=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2795929	NM_004371.4(COPA):c.1629T>C (p.Tyr543=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2795788	NM_004371.4(COPA):c.1615G>T (p.Gly539Trp)	COPA (G539W +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2794523	NM_004371.4(COPA):c.1132C>T (p.Leu378=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2793936	NM_004371.4(COPA):c.496+15T>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2786861	NM_004371.4(COPA):c.3259-11C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2785106	NM_004371.4(COPA):c.2483GAG[1] (p.Gly829del)	COPA (G829del +1 more)	Microsatellite (inframe_deletion)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2784369	NM_004371.4(COPA):c.1040A>G (p.Asn347Ser)	COPA (N347S)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2780523	NM_004371.4(COPA):c.1442+8A>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2777233	NM_004371.4(COPA):c.2214C>T (p.Tyr738=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign

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