JCAD[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 59700	GRCh38/hg38 10p12.1-11.23(chr10:27767970-30046085)x3	BAMBI, C10orf126 +49 more	Copy number gain	See cases	GPathogenic
Select item 3112295	NM_020848.4(JCAD):c.4029A>C (p.Gln1343His)	JCAD (Q1343H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112294	NM_020848.4(JCAD):c.3979A>G (p.Arg1327Gly)	JCAD (R1189G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786153	NM_020848.4(JCAD):c.3896C>T (p.Pro1299Leu)	JCAD (P1161L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3112293	NM_020848.4(JCAD):c.3886G>T (p.Ala1296Ser)	JCAD (A1158S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287168	NM_020848.4(JCAD):c.3885G>C (p.Gln1295His)	JCAD (Q1157H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718174	NM_020848.4(JCAD):c.3855C>T (p.Ala1285=)	JCAD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728960	NM_020848.4(JCAD):c.3838G>A (p.Asp1280Asn)	JCAD (D1142N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3112292	NM_020848.4(JCAD):c.3809G>C (p.Arg1270Pro)	JCAD (R1132P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112291	NM_020848.4(JCAD):c.3809G>A (p.Arg1270Gln)	JCAD (R1132Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112290	NM_020848.4(JCAD):c.3808C>T (p.Arg1270Trp)	JCAD (R1132W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112289	NM_020848.4(JCAD):c.3773G>A (p.Arg1258His)	JCAD (R1120H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467076	NM_020848.4(JCAD):c.3758G>A (p.Arg1253Lys)	JCAD (R1115K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112288	NM_020848.4(JCAD):c.3749C>T (p.Pro1250Leu)	JCAD (P1112L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112287	NM_020848.4(JCAD):c.3719T>C (p.Ile1240Thr)	JCAD (I1240T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112286	NM_020848.4(JCAD):c.3692A>G (p.Lys1231Arg)	JCAD (K1231R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112285	NM_020848.4(JCAD):c.3683G>A (p.Gly1228Asp)	JCAD (G1228D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112284	NM_020848.4(JCAD):c.3670C>T (p.Pro1224Ser)	JCAD (P1086S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112283	NM_020848.4(JCAD):c.3664A>G (p.Arg1222Gly)	JCAD (R1222G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509907	NM_020848.4(JCAD):c.3604G>A (p.Glu1202Lys)	JCAD (E1064K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520805	NM_020848.4(JCAD):c.3505G>C (p.Ala1169Pro)	JCAD (A1031P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112280	NM_020848.4(JCAD):c.3503G>A (p.Arg1168Gln)	JCAD (R1030Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538183	NM_020848.4(JCAD):c.3502C>G (p.Arg1168Gly)	JCAD (R1168G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112279	NM_020848.4(JCAD):c.3463A>G (p.Lys1155Glu)	JCAD (K1017E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112278	NM_020848.4(JCAD):c.3454G>A (p.Gly1152Ser)	JCAD (G1152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589515	NM_020848.4(JCAD):c.3450G>T (p.Lys1150Asn)	JCAD (K1012N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558370	NM_020848.4(JCAD):c.3427G>C (p.Asp1143His)	JCAD (D1005H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112277	NM_020848.4(JCAD):c.3422C>G (p.Ser1141Cys)	JCAD (S1141C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112276	NM_020848.4(JCAD):c.3413C>G (p.Pro1138Arg)	JCAD (P1000R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112275	NM_020848.4(JCAD):c.3392G>A (p.Arg1131His)	JCAD (R993H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285691	NM_020848.4(JCAD):c.3373del (p.Gln1125fs)	JCAD (Q987fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3256971	NM_020848.4(JCAD):c.3221T>C (p.Ile1074Thr)	JCAD (I1074T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2488705	NM_020848.4(JCAD):c.3136C>G (p.Pro1046Ala)	JCAD (P908A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480582	NM_020848.4(JCAD):c.3098C>T (p.Pro1033Leu)	JCAD (P1033L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112274	NM_020848.4(JCAD):c.3084G>C (p.Arg1028Ser)	JCAD (R1028S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112273	NM_020848.4(JCAD):c.3083G>C (p.Arg1028Thr)	JCAD (R1028T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547752	NM_020848.4(JCAD):c.3058C>T (p.Arg1020Trp)	JCAD (R882W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112272	NM_020848.4(JCAD):c.3052G>C (p.Val1018Leu)	JCAD (V1018L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544791	NM_020848.4(JCAD):c.3002A>G (p.Glu1001Gly)	JCAD (E1001G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112271	NM_020848.4(JCAD):c.2996C>T (p.Pro999Leu)	JCAD (P999L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112270	NM_020848.4(JCAD):c.2953G>A (p.Ala985Thr)	JCAD (A985T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 499866	NM_020848.4(JCAD):c.2953G>T (p.Ala985Ser)	JCAD (A985S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3287189	NM_020848.4(JCAD):c.2927C>T (p.Thr976Met)	JCAD (T838M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3287187	NM_020848.4(JCAD):c.2857A>G (p.Ser953Gly)	JCAD (S815G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112269	NM_020848.4(JCAD):c.2824G>A (p.Gly942Ser)	JCAD (G942S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287175	NM_020848.4(JCAD):c.2785C>T (p.Pro929Ser)	JCAD, LOC130003583 (P791S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112268	NM_020848.4(JCAD):c.2700G>T (p.Glu900Asp)	JCAD (E900D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112267	NM_020848.4(JCAD):c.2681C>G (p.Pro894Arg)	JCAD (P756R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112266	NM_020848.4(JCAD):c.2653A>G (p.Ser885Gly)	JCAD (S885G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471086	NM_020848.4(JCAD):c.2603A>G (p.Gln868Arg)	JCAD (Q868R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112265	NM_020848.4(JCAD):c.2597C>T (p.Pro866Leu)	JCAD (P866L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622845	NM_020848.4(JCAD):c.2570G>A (p.Ser857Asn)	JCAD (S857N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112264	NM_020848.4(JCAD):c.2534A>G (p.Glu845Gly)	JCAD, LOC130003584 (E845G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287178	NM_020848.4(JCAD):c.2416C>A (p.Pro806Thr)	JCAD (P668T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2614067	NM_020848.4(JCAD):c.2410G>A (p.Gly804Arg)	JCAD (G666R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112263	NM_020848.4(JCAD):c.2396G>A (p.Arg799Gln)	JCAD (R799Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112262	NM_020848.4(JCAD):c.2395C>T (p.Arg799Trp)	JCAD (R799W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287176	NM_020848.4(JCAD):c.2348A>C (p.Gln783Pro)	JCAD (Q645P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112260	NM_020848.4(JCAD):c.2288C>T (p.Ala763Val)	JCAD (A625V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112259	NM_020848.4(JCAD):c.2282A>G (p.Asn761Ser)	JCAD (N623S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287174	NM_020848.4(JCAD):c.2264C>T (p.Ser755Phe)	JCAD (S755F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112258	NM_020848.4(JCAD):c.2208C>G (p.Phe736Leu)	JCAD (F598L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112257	NM_020848.4(JCAD):c.2154G>T (p.Leu718Phe)	JCAD (L580F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620549	NM_020848.4(JCAD):c.2144G>C (p.Arg715Pro)	JCAD (R715P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112255	NM_020848.4(JCAD):c.2105C>G (p.Ser702Trp)	JCAD (S564W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112254	NM_020848.4(JCAD):c.2038T>C (p.Ser680Pro)	JCAD (S542P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112253	NM_020848.4(JCAD):c.2014C>T (p.His672Tyr)	JCAD (H534Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287179	NM_020848.4(JCAD):c.1991T>C (p.Leu664Pro)	JCAD (L526P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112251	NM_020848.4(JCAD):c.1949A>C (p.Gln650Pro)	JCAD (Q650P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287169	NM_020848.4(JCAD):c.1850C>G (p.Pro617Arg)	JCAD (P479R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112250	NM_020848.4(JCAD):c.1847G>T (p.Ser616Ile)	JCAD (S478I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461195	NM_020848.4(JCAD):c.1826A>G (p.Gln609Arg)	JCAD (Q609R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112249	NM_020848.4(JCAD):c.1801A>C (p.Asn601His)	JCAD (N463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112247	NM_020848.4(JCAD):c.1754T>G (p.Ile585Ser)	JCAD (I447S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600545	NM_020848.4(JCAD):c.1657G>A (p.Glu553Lys)	JCAD (E553K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112246	NM_020848.4(JCAD):c.1603G>A (p.Gly535Arg)	JCAD (G397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287184	NM_020848.4(JCAD):c.1589G>A (p.Arg530Lys)	JCAD (R392K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112245	NM_020848.4(JCAD):c.1579C>A (p.Pro527Thr)	JCAD (P389T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287188	NM_020848.4(JCAD):c.1559G>A (p.Cys520Tyr)	JCAD (C520Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112243	NM_020848.4(JCAD):c.1558T>C (p.Cys520Arg)	JCAD (C382R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287186	NM_020848.4(JCAD):c.1556G>A (p.Arg519His)	JCAD (R519H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112242	NM_020848.4(JCAD):c.1555C>T (p.Arg519Cys)	JCAD (R381C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531109	NM_020848.4(JCAD):c.1520A>G (p.Asp507Gly)	JCAD (D369G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508270	NM_020848.4(JCAD):c.1516G>A (p.Gly506Arg)	JCAD (G506R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112241	NM_020848.4(JCAD):c.1493G>C (p.Arg498Pro)	JCAD (R360P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287183	NM_020848.4(JCAD):c.1492C>T (p.Arg498Trp)	JCAD (R360W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112240	NM_020848.4(JCAD):c.1480G>C (p.Asp494His)	JCAD (D356H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112239	NM_020848.4(JCAD):c.1465G>A (p.Gly489Ser)	JCAD (G489S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287177	NM_020848.4(JCAD):c.1451C>T (p.Ser484Leu)	JCAD (S346L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624276	NM_020848.4(JCAD):c.1445C>A (p.Pro482His)	JCAD (P344H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112238	NM_020848.4(JCAD):c.1425G>T (p.Trp475Cys)	JCAD (W475C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112237	NM_020848.4(JCAD):c.1393C>T (p.His465Tyr)	JCAD (H327Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112236	NM_020848.4(JCAD):c.1390G>A (p.Ala464Thr)	JCAD (A326T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112235	NM_020848.4(JCAD):c.1379C>T (p.Ala460Val)	JCAD (A322V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112234	NM_020848.4(JCAD):c.1358A>G (p.Tyr453Cys)	JCAD (Y315C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287173	NM_020848.4(JCAD):c.1348G>A (p.Asp450Asn)	JCAD (D450N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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