1314[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
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 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 1101782	NM_004371.4(COPA):c.3663G>A (p.Leu1221=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2717946	NM_004371.4(COPA):c.3654_3655del (p.Ile1218fs)	COPA (I1227fs +1 more)	Deletion (frameshift variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1360474	NM_004371.4(COPA):c.3653T>C (p.Ile1218Thr)	COPA (I1218T +1 more)	Single nucleotide variant (missense 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 956374	NM_004371.4(COPA):c.3650G>A (p.Arg1217Lys)	COPA (R1217K +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2731644	NM_004371.4(COPA):c.3616-8T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2154631	NM_004371.4(COPA):c.3616-12_3616-9del	COPA	Microsatellite (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1641877	NM_004371.4(COPA):c.3616-20C>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GBenign
Select item 1587588	NM_004371.4(COPA):c.3616-20C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2628122	NM_004371.4(COPA):c.3615+49A>G	COPA	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1539533	NM_004371.4(COPA):c.3615+10_3615+11delinsTC	COPA	Indel (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1146086	NM_004371.4(COPA):c.3615+9T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
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 3364997	NM_004371.4(COPA):c.3599T>C (p.Ile1200Thr)	COPA (I1200T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 955962	NM_004371.4(COPA):c.3552G>T (p.Lys1184Asn)	COPA (K1184N +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
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 1488228	NM_004371.4(COPA):c.3533G>A (p.Arg1178His)	COPA (R1187H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2199622	NM_004371.4(COPA):c.3532C>T (p.Arg1178Cys)	COPA (R1178C +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1384412	NM_004371.4(COPA):c.3521G>A (p.Arg1174Gln)	COPA (R1174Q +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2062588	NM_004371.4(COPA):c.3520C>T (p.Arg1174Trp)	COPA (R1183W +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GBenign
Select item 2078697	NM_004371.4(COPA):c.3518A>G (p.Tyr1173Cys)	COPA (Y1173C +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 1383178	NM_004371.4(COPA):c.3512C>T (p.Ala1171Val)	COPA (A1171V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1362253	NM_004371.4(COPA):c.3511G>A (p.Ala1171Thr)	COPA (A1171T +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1898735	NM_004371.4(COPA):c.3501C>T (p.Asp1167=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1666179	NM_004371.4(COPA):c.3495C>G (p.Pro1165=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2707392	NM_004371.4(COPA):c.3493C>T (p.Pro1165Ser)	COPA (P1165S +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2173723	NM_004371.4(COPA):c.3485T>C (p.Met1162Thr)	COPA (M1171T +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GBenign
Select item 1415497	NM_004371.4(COPA):c.3484A>G (p.Met1162Val)	COPA (M1162V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 734285	NM_004371.4(COPA):c.3483C>T (p.Asp1161=)	COPA	Single nucleotide variant (synonymous 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 2087962	NM_004371.4(COPA):c.3476A>G (p.Asn1159Ser)	COPA (N1159S +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1587109	NM_004371.4(COPA):c.3465C>T (p.Ala1155=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1478497	NM_004371.4(COPA):c.3458C>T (p.Thr1153Ile)	COPA (T1162I +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
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 1649476	NM_004371.4(COPA):c.3435G>A (p.Leu1145=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 542647	NM_004371.4(COPA):c.3433C>T (p.Leu1145=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 846768	NM_004371.4(COPA):c.3425G>A (p.Arg1142Gln)	COPA (R1151Q +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GUncertain significance
Select item 760147	NM_004371.4(COPA):c.3423C>T (p.Thr1141=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1015474	NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile)	COPA (T1141I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1141118	NM_004371.4(COPA):c.3421-5C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1368330	NM_004371.4(COPA):c.3421-6C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1550904	NM_004371.4(COPA):c.3421-11C>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1631462	NM_004371.4(COPA):c.3421-17C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1549407	NM_004371.4(COPA):c.3420+16T>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1563711	NM_004371.4(COPA):c.3420+14C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2714356	NM_004371.4(COPA):c.3420+12T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1656692	NM_004371.4(COPA):c.3420+11C>T	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1654243	NM_004371.4(COPA):c.3420+9A>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
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 1922165	NM_004371.4(COPA):c.3413C>T (p.Ala1138Val)	COPA (A1138V +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GConflicting classifications of pathogenicity
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 1100893	NM_004371.4(COPA):c.3396G>T (p.Gly1132=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
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 2717835	NM_004371.4(COPA):c.3394G>C (p.Gly1132Arg)	COPA (G1132R +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
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 3371631	NM_004371.4(COPA):c.3392T>G (p.Leu1131Arg)	COPA (L1131R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1156706	NM_004371.4(COPA):c.3384A>G (p.Leu1128=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 636684	NM_004371.4(COPA):c.3380G>A (p.Arg1127His)	COPA (R1127H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414255	NM_004371.4(COPA):c.3377G>A (p.Arg1126Gln)	COPA (R1126Q +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2740552	NM_004371.4(COPA):c.3376C>T (p.Arg1126Trp)	COPA (R1135W +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1804353	NM_004371.4(COPA):c.3368C>T (p.Thr1123Ile)	COPA (T1123I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006541	NM_004371.4(COPA):c.3344T>G (p.Leu1115Arg)	COPA (L1115R +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1396781	NM_004371.4(COPA):c.3332T>G (p.Leu1111Arg)	COPA (L1120R +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1169036	NM_004371.4(COPA):c.3331C>T (p.Leu1111=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GBenign
Select item 1050931	NM_004371.4(COPA):c.3331C>A (p.Leu1111Met)	COPA (L1111M +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
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 1136254	NM_004371.4(COPA):c.3324C>T (p.Ala1108=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2116529	NM_004371.4(COPA):c.3317G>A (p.Arg1106His)	COPA (R1106H +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 2239223	NM_004371.4(COPA):c.3292C>T (p.Pro1098Ser)	COPA (P1107S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1023759	NM_004371.4(COPA):c.3281C>T (p.Ser1094Leu)	COPA (S1094L +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 3076213	NM_004371.4(COPA):c.3277C>T (p.His1093Tyr)	COPA (H1093Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556928	NM_004371.4(COPA):c.3269A>G (p.Tyr1090Cys)	COPA (Y1090C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333180	NM_004371.4(COPA):c.3259A>T (p.Met1087Leu)	COPA (M1087L +1 more)	Single nucleotide variant (missense variant)	Systemic autoinflammation	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 1621596	NM_004371.4(COPA):c.3258+12A>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2143145	NM_004371.4(COPA):c.3258+11T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 2017143	NM_004371.4(COPA):c.3258+7T>C	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
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 966529	NM_004371.4(COPA):c.3258+4A>G	COPA	Single nucleotide variant (intron variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1095653	NM_004371.4(COPA):c.3248G>T (p.Arg1083Leu)	COPA (R1083L +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +2 more	GLikely benign
Select item 1002708	NM_004371.4(COPA):c.3248G>A (p.Arg1083His)	COPA (R1083H +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1992004	NM_004371.4(COPA):c.3247C>T (p.Arg1083Cys)	COPA (R1083C +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1911631	NM_004371.4(COPA):c.3231T>C (p.Thr1077=)	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 1346390	NM_004371.4(COPA):c.3196G>T (p.Val1066Leu)	COPA (V1066L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1609529	NM_004371.4(COPA):c.3195C>G (p.Ser1065=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1598538	NM_004371.4(COPA):c.3195C>T (p.Ser1065=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 1170472	NM_004371.4(COPA):c.3192G>A (p.Leu1064=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GBenign
Select item 2029482	NM_004371.4(COPA):c.3190T>C (p.Leu1064=)	COPA	Single nucleotide variant (synonymous variant)	Autoimmune interstitial lung disease-arthritis syndrome	GLikely benign
Select item 583053	NM_004371.4(COPA):c.3184G>T (p.Val1062Leu)	COPA (V1062L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1055987	NM_004371.4(COPA):c.3172C>T (p.Arg1058Cys)	COPA (R1058C +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1686598	NM_004371.4(COPA):c.3171C>A (p.Cys1057Ter)	COPA (C1057* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 970584	NM_004371.4(COPA):c.3151C>G (p.Gln1051Glu)	COPA (Q1051E +1 more)	Single nucleotide variant (missense variant)	Autoimmune interstitial lung disease-arthritis syndrome +1 more	GConflicting classifications of pathogenicity

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