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NC_000001.11:g.(?_204033173)_(208209798_?)del AND Autism

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 20, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000754138.1

Allele description [Variation Report for NC_000001.11:g.(?_204033173)_(208209798_?)del]

NC_000001.11:g.(?_204033173)_(208209798_?)del

Genes:
  • PFKFB2:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [Gene - OMIM - HGNC]
  • LOC129932283:ATAC-STARR-seq lymphoblastoid active region 2359 [Gene]
  • LOC129932284:ATAC-STARR-seq lymphoblastoid active region 2360 [Gene]
  • LOC129932285:ATAC-STARR-seq lymphoblastoid active region 2363 [Gene]
  • LOC129932286:ATAC-STARR-seq lymphoblastoid active region 2364 [Gene]
  • LOC129932287:ATAC-STARR-seq lymphoblastoid active region 2365 [Gene]
  • LOC129932288:ATAC-STARR-seq lymphoblastoid active region 2366 [Gene]
  • LOC129932290:ATAC-STARR-seq lymphoblastoid active region 2368 [Gene]
  • LOC129932291:ATAC-STARR-seq lymphoblastoid active region 2369 [Gene]
  • LOC129932297:ATAC-STARR-seq lymphoblastoid active region 2373 [Gene]
  • LOC129932298:ATAC-STARR-seq lymphoblastoid active region 2374 [Gene]
  • LOC129932299:ATAC-STARR-seq lymphoblastoid active region 2375 [Gene]
  • LOC129932302:ATAC-STARR-seq lymphoblastoid active region 2376 [Gene]
  • LOC129932304:ATAC-STARR-seq lymphoblastoid active region 2377 [Gene]
  • LOC129932305:ATAC-STARR-seq lymphoblastoid active region 2378 [Gene]
  • LOC129932306:ATAC-STARR-seq lymphoblastoid active region 2379 [Gene]
  • LOC129932311:ATAC-STARR-seq lymphoblastoid active region 2380 [Gene]
  • LOC129932316:ATAC-STARR-seq lymphoblastoid active region 2381 [Gene]
  • LOC129932317:ATAC-STARR-seq lymphoblastoid active region 2383 [Gene]
  • LOC129932318:ATAC-STARR-seq lymphoblastoid active region 2384 [Gene]
  • LOC129932321:ATAC-STARR-seq lymphoblastoid active region 2385 [Gene]
  • LOC129932322:ATAC-STARR-seq lymphoblastoid active region 2386 [Gene]
  • LOC129932323:ATAC-STARR-seq lymphoblastoid active region 2387 [Gene]
  • LOC129932326:ATAC-STARR-seq lymphoblastoid active region 2388 [Gene]
  • LOC129932327:ATAC-STARR-seq lymphoblastoid active region 2389 [Gene]
  • LOC129932328:ATAC-STARR-seq lymphoblastoid active region 2390 [Gene]
  • LOC129932330:ATAC-STARR-seq lymphoblastoid active region 2391 [Gene]
  • LOC129932331:ATAC-STARR-seq lymphoblastoid active region 2392 [Gene]
  • LOC129932332:ATAC-STARR-seq lymphoblastoid active region 2393 [Gene]
  • LOC129932333:ATAC-STARR-seq lymphoblastoid active region 2394 [Gene]
  • LOC129932334:ATAC-STARR-seq lymphoblastoid active region 2395 [Gene]
  • LOC129932335:ATAC-STARR-seq lymphoblastoid active region 2396 [Gene]
  • LOC129932336:ATAC-STARR-seq lymphoblastoid active region 2398 [Gene]
  • LOC129932337:ATAC-STARR-seq lymphoblastoid active region 2400 [Gene]
  • LOC129932338:ATAC-STARR-seq lymphoblastoid active region 2401 [Gene]
  • LOC129932339:ATAC-STARR-seq lymphoblastoid active region 2402 [Gene]
  • LOC129932340:ATAC-STARR-seq lymphoblastoid active region 2403 [Gene]
  • LOC129932347:ATAC-STARR-seq lymphoblastoid active region 2406 [Gene]
  • LOC129932348:ATAC-STARR-seq lymphoblastoid active region 2407 [Gene]
  • LOC129932349:ATAC-STARR-seq lymphoblastoid active region 2408 [Gene]
  • LOC129932350:ATAC-STARR-seq lymphoblastoid active region 2409 [Gene]
  • LOC129932351:ATAC-STARR-seq lymphoblastoid active region 2410 [Gene]
  • LOC129932353:ATAC-STARR-seq lymphoblastoid active region 2411 [Gene]
  • LOC129932360:ATAC-STARR-seq lymphoblastoid active region 2412 [Gene]
  • LOC129932361:ATAC-STARR-seq lymphoblastoid active region 2413 [Gene]
  • LOC129932362:ATAC-STARR-seq lymphoblastoid active region 2414 [Gene]
  • LOC129932365:ATAC-STARR-seq lymphoblastoid active region 2415 [Gene]
  • LOC129932366:ATAC-STARR-seq lymphoblastoid active region 2416 [Gene]
  • LOC129932367:ATAC-STARR-seq lymphoblastoid active region 2417 [Gene]
  • LOC129932368:ATAC-STARR-seq lymphoblastoid active region 2418 [Gene]
  • LOC129932369:ATAC-STARR-seq lymphoblastoid active region 2419 [Gene]
  • LOC129932370:ATAC-STARR-seq lymphoblastoid active region 2420 [Gene]
  • LOC129932371:ATAC-STARR-seq lymphoblastoid active region 2421 [Gene]
  • LOC129932372:ATAC-STARR-seq lymphoblastoid active region 2422 [Gene]
  • LOC129932373:ATAC-STARR-seq lymphoblastoid active region 2423 [Gene]
  • LOC129932374:ATAC-STARR-seq lymphoblastoid active region 2424 [Gene]
  • LOC129932375:ATAC-STARR-seq lymphoblastoid active region 2425 [Gene]
  • LOC129932377:ATAC-STARR-seq lymphoblastoid active region 2426 [Gene]
  • LOC129932379:ATAC-STARR-seq lymphoblastoid active region 2427 [Gene]
  • LOC129932380:ATAC-STARR-seq lymphoblastoid active region 2428 [Gene]
  • LOC129932381:ATAC-STARR-seq lymphoblastoid active region 2429 [Gene]
  • LOC129932382:ATAC-STARR-seq lymphoblastoid active region 2430 [Gene]
  • LOC129932383:ATAC-STARR-seq lymphoblastoid active region 2431 [Gene]
  • LOC129932384:ATAC-STARR-seq lymphoblastoid active region 2432 [Gene]
  • LOC129932385:ATAC-STARR-seq lymphoblastoid active region 2433 [Gene]
  • LOC129932386:ATAC-STARR-seq lymphoblastoid active region 2434 [Gene]
  • LOC129932388:ATAC-STARR-seq lymphoblastoid active region 2437 [Gene]
  • LOC129932389:ATAC-STARR-seq lymphoblastoid active region 2438 [Gene]
  • LOC129932390:ATAC-STARR-seq lymphoblastoid active region 2439 [Gene]
  • LOC129932391:ATAC-STARR-seq lymphoblastoid active region 2440 [Gene]
  • LOC129932393:ATAC-STARR-seq lymphoblastoid active region 2441 [Gene]
  • LOC129932394:ATAC-STARR-seq lymphoblastoid active region 2442 [Gene]
  • LOC129932395:ATAC-STARR-seq lymphoblastoid active region 2443 [Gene]
  • LOC129932396:ATAC-STARR-seq lymphoblastoid active region 2444 [Gene]
  • LOC129932397:ATAC-STARR-seq lymphoblastoid active region 2445 [Gene]
  • LOC129932398:ATAC-STARR-seq lymphoblastoid active region 2446 [Gene]
  • LOC129932401:ATAC-STARR-seq lymphoblastoid active region 2447 [Gene]
  • LOC129932403:ATAC-STARR-seq lymphoblastoid active region 2448 [Gene]
  • LOC129932405:ATAC-STARR-seq lymphoblastoid active region 2449 [Gene]
  • LOC129932406:ATAC-STARR-seq lymphoblastoid active region 2450 [Gene]
  • LOC129932407:ATAC-STARR-seq lymphoblastoid active region 2451 [Gene]
  • LOC129932408:ATAC-STARR-seq lymphoblastoid active region 2452 [Gene]
  • LOC129932409:ATAC-STARR-seq lymphoblastoid active region 2453 [Gene]
  • LOC129932411:ATAC-STARR-seq lymphoblastoid active region 2454 [Gene]
  • LOC129932412:ATAC-STARR-seq lymphoblastoid active region 2455 [Gene]
  • LOC129932413:ATAC-STARR-seq lymphoblastoid active region 2456 [Gene]
  • LOC129932414:ATAC-STARR-seq lymphoblastoid active region 2457 [Gene]
  • LOC129932416:ATAC-STARR-seq lymphoblastoid active region 2458 [Gene]
  • LOC129932417:ATAC-STARR-seq lymphoblastoid active region 2459 [Gene]
  • LOC129932418:ATAC-STARR-seq lymphoblastoid active region 2460 [Gene]
  • LOC129932419:ATAC-STARR-seq lymphoblastoid active region 2461 [Gene]
  • LOC129932420:ATAC-STARR-seq lymphoblastoid active region 2462 [Gene]
  • LOC129932289:ATAC-STARR-seq lymphoblastoid silent region 1725 [Gene]
  • LOC129932292:ATAC-STARR-seq lymphoblastoid silent region 1726 [Gene]
  • LOC129932293:ATAC-STARR-seq lymphoblastoid silent region 1729 [Gene]
  • LOC129932294:ATAC-STARR-seq lymphoblastoid silent region 1730 [Gene]
  • LOC129932295:ATAC-STARR-seq lymphoblastoid silent region 1731 [Gene]
  • LOC129932296:ATAC-STARR-seq lymphoblastoid silent region 1732 [Gene]
  • LOC129932300:ATAC-STARR-seq lymphoblastoid silent region 1733 [Gene]
  • LOC129932301:ATAC-STARR-seq lymphoblastoid silent region 1734 [Gene]
  • LOC129932303:ATAC-STARR-seq lymphoblastoid silent region 1735 [Gene]
  • LOC129932307:ATAC-STARR-seq lymphoblastoid silent region 1736 [Gene]
  • LOC129932308:ATAC-STARR-seq lymphoblastoid silent region 1737 [Gene]
  • LOC129932309:ATAC-STARR-seq lymphoblastoid silent region 1738 [Gene]
  • LOC129932310:ATAC-STARR-seq lymphoblastoid silent region 1739 [Gene]
  • LOC129932312:ATAC-STARR-seq lymphoblastoid silent region 1740 [Gene]
  • LOC129932313:ATAC-STARR-seq lymphoblastoid silent region 1741 [Gene]
  • LOC129932314:ATAC-STARR-seq lymphoblastoid silent region 1742 [Gene]
  • LOC129932315:ATAC-STARR-seq lymphoblastoid silent region 1743 [Gene]
  • LOC129932319:ATAC-STARR-seq lymphoblastoid silent region 1745 [Gene]
  • LOC129932320:ATAC-STARR-seq lymphoblastoid silent region 1746 [Gene]
  • LOC129932324:ATAC-STARR-seq lymphoblastoid silent region 1747 [Gene]
  • LOC129932325:ATAC-STARR-seq lymphoblastoid silent region 1748 [Gene]
  • LOC129932329:ATAC-STARR-seq lymphoblastoid silent region 1751 [Gene]
  • LOC129932341:ATAC-STARR-seq lymphoblastoid silent region 1752 [Gene]
  • LOC129932342:ATAC-STARR-seq lymphoblastoid silent region 1753 [Gene]
  • LOC129932343:ATAC-STARR-seq lymphoblastoid silent region 1754 [Gene]
  • LOC129932344:ATAC-STARR-seq lymphoblastoid silent region 1755 [Gene]
  • LOC129932345:ATAC-STARR-seq lymphoblastoid silent region 1756 [Gene]
  • LOC129932346:ATAC-STARR-seq lymphoblastoid silent region 1757 [Gene]
  • LOC129932352:ATAC-STARR-seq lymphoblastoid silent region 1758 [Gene]
  • LOC129932354:ATAC-STARR-seq lymphoblastoid silent region 1759 [Gene]
  • LOC129932355:ATAC-STARR-seq lymphoblastoid silent region 1760 [Gene]
  • LOC129932356:ATAC-STARR-seq lymphoblastoid silent region 1761 [Gene]
  • LOC129932357:ATAC-STARR-seq lymphoblastoid silent region 1762 [Gene]
  • LOC129932358:ATAC-STARR-seq lymphoblastoid silent region 1763 [Gene]
  • LOC129932359:ATAC-STARR-seq lymphoblastoid silent region 1764 [Gene]
  • LOC129932363:ATAC-STARR-seq lymphoblastoid silent region 1765 [Gene]
  • LOC129932364:ATAC-STARR-seq lymphoblastoid silent region 1766 [Gene]
  • LOC129932376:ATAC-STARR-seq lymphoblastoid silent region 1767 [Gene]
  • LOC129932378:ATAC-STARR-seq lymphoblastoid silent region 1768 [Gene]
  • LOC129932387:ATAC-STARR-seq lymphoblastoid silent region 1769 [Gene]
  • LOC129932392:ATAC-STARR-seq lymphoblastoid silent region 1770 [Gene]
  • LOC129932399:ATAC-STARR-seq lymphoblastoid silent region 1771 [Gene]
  • LOC129932400:ATAC-STARR-seq lymphoblastoid silent region 1772 [Gene]
  • LOC129932402:ATAC-STARR-seq lymphoblastoid silent region 1773 [Gene]
  • LOC129932404:ATAC-STARR-seq lymphoblastoid silent region 1774 [Gene]
  • LOC129932410:ATAC-STARR-seq lymphoblastoid silent region 1775 [Gene]
  • LOC129932415:ATAC-STARR-seq lymphoblastoid silent region 1776 [Gene]
  • AVPR1B-DT:AVPR1B divergent transcript [Gene - HGNC]
  • BLACAT1:BLACAT1 overlapping LEMD1 locus [Gene - OMIM - HGNC]
  • LOC126805990:BRD4-independent group 4 enhancer GRCh37_chr1:207063449-207064648 [Gene]
  • LOC126805992:BRD4-independent group 4 enhancer GRCh37_chr1:207134913-207136112 [Gene]
  • LOC126805993:BRD4-independent group 4 enhancer GRCh37_chr1:207192892-207194091 [Gene]
  • LOC126805994:BRD4-independent group 4 enhancer GRCh37_chr1:207642622-207643821 [Gene]
  • CD34:CD34 molecule [Gene - OMIM - HGNC]
  • CD46:CD46 molecule [Gene - OMIM - HGNC]
  • CD55:CD55 molecule (Cromer blood group) [Gene - OMIM - HGNC]
  • LOC126805987:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:205569093-205570292 [Gene]
  • LOC128462409:CRISPRi-FlowFISH-validated IL10 regulatory element GRCh37_chr1:206945468-206946089 [Gene]
  • LOC128462410:CRISPRi-FlowFISH-validated IL10 regulatory elements GRCh37_chr1:206966528-206967028 and GRCh37_chr1:206966531-206967031 [Gene]
  • LOC115804244:CRISPRi-validated cis-regulatory element chr1.11362 [Gene]
  • DYRK3-AS1:DYRK3 antisense RNA 1 [Gene - HGNC]
  • ELK4:ETS transcription factor ELK4 [Gene - OMIM - HGNC]
  • FCAMR:Fc alpha and mu receptor [Gene - OMIM - HGNC]
  • FCMR:Fc mu receptor [Gene - OMIM - HGNC]
  • LOC111365207:HNF1 motif-containing MPRA enhancer 91/92 [Gene]
  • LOC111429612:HNF4 motif-containing MPRA enhancer 209 [Gene]
  • IKBKE-AS1:IKBKE antisense RNA 1 [Gene - HGNC]
  • KISS1:KiSS-1 metastasis suppressor [Gene - OMIM - HGNC]
  • LEMD1:LEM domain containing 1 [Gene - OMIM - HGNC]
  • LEMD1-AS1:LEMD1 antisense RNA 1 [Gene - HGNC]
  • LEMD1-DT:LEMD1 divergent transcript [Gene - HGNC]
  • MAPKAPK2:MAPK activated protein kinase 2 [Gene - OMIM - HGNC]
  • MDM4:MDM4 regulator of p53 [Gene - OMIM - HGNC]
  • LOC126805983:MED14-independent group 3 enhancer GRCh37_chr1:204484788-204485987 [Gene]
  • LOC126805984:MED14-independent group 3 enhancer GRCh37_chr1:204493521-204494720 [Gene]
  • LOC126805985:MED14-independent group 3 enhancer GRCh37_chr1:205041546-205042745 [Gene]
  • LOC126805989:MED14-independent group 3 enhancer GRCh37_chr1:206775241-206776440 [Gene]
  • LOC126805995:MED14-independent group 3 enhancer GRCh37_chr1:207979012-207980211 [Gene]
  • MFSD4A-AS1:MFSD4A antisense RNA 1 [Gene - HGNC]
  • MIR29B2CHG:MIR29B2 and MIR29C host gene [Gene - HGNC]
  • NUAK2:NUAK family kinase 2 [Gene - OMIM - HGNC]
  • LOC132090671:Neanderthal introgressed variant-containing enhancer experimental_1682 [Gene]
  • LOC121725070:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:205269741-205270592 and GRCh37_chr1:205270593-205271445 [Gene]
  • LOC126805986:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:205263045-205264244 [Gene]
  • LOC126805988:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:205633133-205634332 [Gene]
  • LOC126805991:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:207078063-207079262 [Gene]
  • PM20D1-AS1:PM20D1 antisense RNA 1 [Gene - HGNC]
  • RAB29:RAB29, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB7B:RAB7B, member RAS oncogene family [Gene - HGNC]
  • RBBP5:RB binding protein 5, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • LOC107548112:REN promoter and enhancer region [Gene]
  • RASSF5:Ras association domain family member 5 [Gene - OMIM - HGNC]
  • SLC26A9-AS1:SLC26A9 and RAB7B antisense RNA 1 [Gene - HGNC]
  • SRGAP2:SLIT-ROBO Rho GTPase activating protein 2 [Gene - OMIM - HGNC]
  • SOX13:SRY-box transcription factor 13 [Gene - OMIM - HGNC]
  • LOC122149359:Sharpr-MPRA regulatory region 10950 [Gene]
  • LOC122149354:Sharpr-MPRA regulatory region 11318 [Gene]
  • LOC121725069:Sharpr-MPRA regulatory region 11435 [Gene]
  • LOC112577533:Sharpr-MPRA regulatory region 12474 [Gene]
  • LOC122149349:Sharpr-MPRA regulatory region 12859 [Gene]
  • LOC122149358:Sharpr-MPRA regulatory region 13667 [Gene]
  • LOC122094914:Sharpr-MPRA regulatory region 15698 duplicate 3 [Gene]
  • LOC122149352:Sharpr-MPRA regulatory region 1805 [Gene]
  • LOC122149351:Sharpr-MPRA regulatory region 2072 [Gene]
  • LOC120893175:Sharpr-MPRA regulatory region 2526 [Gene]
  • LOC122149360:Sharpr-MPRA regulatory region 3087 [Gene]
  • LOC122128411:Sharpr-MPRA regulatory region 356 duplicate 3 [Gene]
  • LOC122149353:Sharpr-MPRA regulatory region 3970 [Gene]
  • LOC112577532:Sharpr-MPRA regulatory region 4160 [Gene]
  • LOC122149361:Sharpr-MPRA regulatory region 4428 [Gene]
  • LOC122149487:Sharpr-MPRA regulatory region 4693 [Gene]
  • LOC122149489:Sharpr-MPRA regulatory region 4965 [Gene]
  • LOC122149355:Sharpr-MPRA regulatory region 5187 [Gene]
  • LOC122149357:Sharpr-MPRA regulatory region 5780 [Gene]
  • LOC121725071:Sharpr-MPRA regulatory region 5902 [Gene]
  • LOC122149350:Sharpr-MPRA regulatory region 6329 [Gene]
  • LOC122149356:Sharpr-MPRA regulatory region 658 [Gene]
  • LOC122149488:Sharpr-MPRA regulatory region 9321 [Gene]
  • LOC122149362:Sharpr-MPRA regulatory region 9788 [Gene]
  • LOC120893176:Sharpr-MPRA regulatory region 9898 [Gene]
  • TMCC2-AS1:TMCC2 antisense RNA 1 [Gene - HGNC]
  • LOC110121081:VISTA enhancer hs1368 [Gene]
  • YOD1:YOD1 deubiquitinase [Gene - OMIM - HGNC]
  • AVPR1B:arginine vasopressin receptor 1B [Gene - OMIM - HGNC]
  • CTSE:cathepsin E [Gene - OMIM - HGNC]
  • C1orf116:chromosome 1 open reading frame 116 [Gene - OMIM - HGNC]
  • CR1:complement C3b/C4b receptor 1 (Knops blood group) [Gene - OMIM - HGNC]
  • CR1L:complement C3b/C4b receptor 1 like [Gene - OMIM - HGNC]
  • CR2:complement C3d receptor 2 [Gene - OMIM - HGNC]
  • C4BPA:complement component 4 binding protein alpha [Gene - OMIM - HGNC]
  • C4BPB:complement component 4 binding protein beta [Gene - OMIM - HGNC]
  • CNTN2:contactin 2 [Gene - OMIM - HGNC]
  • CDK18:cyclin dependent kinase 18 [Gene - OMIM - HGNC]
  • DSTYK:dual serine/threonine and tyrosine protein kinase [Gene - OMIM - HGNC]
  • DYRK3:dual specificity tyrosine phosphorylation regulated kinase 3 [Gene - OMIM - HGNC]
  • ERLNC1:estrogen receptor responsive lncRNA 1 [Gene - HGNC]
  • ETNK2:ethanolamine kinase 2 [Gene - OMIM - HGNC]
  • EIF2D:eukaryotic translation initiation factor 2D [Gene - OMIM - HGNC]
  • FAM72A:family with sequence similarity 72 member A [Gene - OMIM - HGNC]
  • GOLT1A:golgi transport 1A [Gene - HGNC]
  • IKBKE:inhibitor of nuclear factor kappa B kinase subunit epsilon [Gene - OMIM - HGNC]
  • IL10:interleukin 10 [Gene - OMIM - HGNC]
  • IL19:interleukin 19 [Gene - OMIM - HGNC]
  • IL20:interleukin 20 [Gene - OMIM - HGNC]
  • IL24:interleukin 24 [Gene - OMIM - HGNC]
  • KLHDC8A:kelch domain containing 8A [Gene - OMIM - HGNC]
  • LRRN2:leucine rich repeat neuronal 2 [Gene - OMIM - HGNC]
  • LINC02767:long intergenic non-protein coding RNA 2767 [Gene - HGNC]
  • LINC02942:long intergenic non-protein coding RNA 2942 [Gene - HGNC]
  • LINC00303:long intergenic non-protein coding RNA 303 [Gene - HGNC]
  • LINC00628:long intergenic non-protein coding RNA 628 [Gene - HGNC]
  • MFSD4A:major facilitator superfamily domain containing 4A [Gene - OMIM - HGNC]
  • LOC128772232:melanoma risk locus-associated MPRA allelic enhancer 1:205044866 [Gene]
  • LOC128772233:melanoma risk locus-associated MPRA allelic enhancer 1:205074018 [Gene]
  • LOC128772234:melanoma risk locus-associated MPRA allelic enhancer 1:205075359 [Gene]
  • LOC128772235:melanoma risk locus-associated MPRA allelic enhancer 1:205104550 [Gene]
  • LOC128772236:melanoma risk locus-associated MPRA allelic enhancer 1:205110917 [Gene]
  • LOC128772237:melanoma risk locus-associated MPRA allelic enhancer 1:205163798 [Gene]
  • LOC128772238:melanoma risk locus-associated MPRA allelic enhancer 1:205183288 [Gene]
  • LOC128772239:melanoma risk locus-associated MPRA allelic enhancer 1:205240913 [Gene]
  • LOC128781582:melanoma risk locus-associated MPRA allelic enhancers 1:205012106 and 1:205012198 [Gene]
  • LOC128781583:melanoma risk locus-associated MPRA allelic enhancers 1:205044354 and 1:205044416 [Gene]
  • MIR135B:microRNA 135b [Gene - OMIM - HGNC]
  • MIR29B2:microRNA 29b-2 [Gene - OMIM - HGNC]
  • MIR29C:microRNA 29c [Gene - OMIM - HGNC]
  • MIR6769B:microRNA 6769b [Gene - HGNC]
  • LOC120807609:negCOR silencer S10 [Gene]
  • NFASC:neurofascin [Gene - OMIM - HGNC]
  • NUCKS1:nuclear casein kinase and cyclin dependent kinase substrate 1 [Gene - OMIM - HGNC]
  • PM20D1:peptidase M20 domain containing 1 [Gene - OMIM - HGNC]
  • PIK3C2B:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Gene - OMIM - HGNC]
  • PLEKHA6:pleckstrin homology domain containing A6 [Gene - OMIM - HGNC]
  • PLXNA2:plexin A2 [Gene - OMIM - HGNC]
  • PIGR:polymeric immunoglobulin receptor [Gene - OMIM - HGNC]
  • PPP1R15B:protein phosphatase 1 regulatory subunit 15B [Gene - OMIM - HGNC]
  • RHEX:regulator of hemoglobinization and erythroid cell expansion [Gene - OMIM - HGNC]
  • REN:renin [Gene - OMIM - HGNC]
  • SLC26A9:solute carrier family 26 member 9 [Gene - OMIM - HGNC]
  • SLC41A1:solute carrier family 41 member 1 [Gene - OMIM - HGNC]
  • SLC45A3:solute carrier family 45 member 3 [Gene - OMIM - HGNC]
  • TRK-TTT8-1:tRNA-Lys (TTT) 8-1 [Gene - HGNC]
  • TRK-TTT3-1:tRNA-Lys (anticodon TTT) 3-1 [Gene - HGNC]
  • TRK-TTT3-2:tRNA-Lys (anticodon TTT) 3-2 [Gene - HGNC]
  • LOC124904584:translation initiation factor IF-2 [Gene]
  • TMCC2:transmembrane and coiled-coil domain family 2 [Gene - OMIM - HGNC]
  • TMEM81:transmembrane protein 81 [Gene - HGNC]
  • LOC103021295:uncharacterized LOC103021295 [Gene]
  • LOC148696:uncharacterized LOC148696 [Gene]
Variant type:
Deletion
Cytogenetic location:
1q32.1-32.2
Genomic location:
Chr1: 204033173 - 208209798 (on Assembly GRCh38)
Preferred name:
NC_000001.11:g.(?_204033173)_(208209798_?)del
HGVS:
NC_000001.11:g.(?_204033173)_(208209798_?)del

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000777941Department of Psychiatry, Nagoya University
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Likely pathogenic
(Mar 20, 2018) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.

Kushima I, Aleksic B, Nakatochi M, Shimamura T, Okada T, Uno Y, Morikawa M, Ishizuka K, Shiino T, Kimura H, Arioka Y, Yoshimi A, Takasaki Y, Yu Y, Nakamura Y, Yamamoto M, Iidaka T, Iritani S, Inada T, Ogawa N, Shishido E, Torii Y, et al.

Cell Rep. 2018 Sep 11;24(11):2838-2856. doi: 10.1016/j.celrep.2018.08.022.

PubMed [citation]
PMID:
30208311

Details of each submission

From Department of Psychiatry, Nagoya University, SCV000777941.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023