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GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 25, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000143484.6

Allele description [Variation Report for GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1]

GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1

Genes:
  • HIBCH:3-hydroxyisobutyryl-CoA hydrolase [Gene - OMIM - HGNC]
  • ASDURF:ASNSD1 upstream open reading frame [Gene - OMIM - HGNC]
  • LOC129935157:ATAC-STARR-seq lymphoblastoid active region 16789 [Gene]
  • LOC129935159:ATAC-STARR-seq lymphoblastoid active region 16790 [Gene]
  • LOC129935160:ATAC-STARR-seq lymphoblastoid active region 16791 [Gene]
  • LOC129935164:ATAC-STARR-seq lymphoblastoid active region 16792 [Gene]
  • LOC129935166:ATAC-STARR-seq lymphoblastoid active region 16793 [Gene]
  • LOC129935167:ATAC-STARR-seq lymphoblastoid active region 16794 [Gene]
  • LOC129935170:ATAC-STARR-seq lymphoblastoid active region 16796 [Gene]
  • LOC129935173:ATAC-STARR-seq lymphoblastoid active region 16798 [Gene]
  • LOC129935174:ATAC-STARR-seq lymphoblastoid active region 16799 [Gene]
  • LOC129935175:ATAC-STARR-seq lymphoblastoid active region 16800 [Gene]
  • LOC129935176:ATAC-STARR-seq lymphoblastoid active region 16801 [Gene]
  • LOC129935178:ATAC-STARR-seq lymphoblastoid active region 16802 [Gene]
  • LOC129935180:ATAC-STARR-seq lymphoblastoid active region 16805 [Gene]
  • LOC129935182:ATAC-STARR-seq lymphoblastoid active region 16807 [Gene]
  • LOC129935183:ATAC-STARR-seq lymphoblastoid active region 16808 [Gene]
  • LOC129935184:ATAC-STARR-seq lymphoblastoid active region 16809 [Gene]
  • LOC129935185:ATAC-STARR-seq lymphoblastoid active region 16810 [Gene]
  • LOC129935186:ATAC-STARR-seq lymphoblastoid active region 16811 [Gene]
  • LOC129935187:ATAC-STARR-seq lymphoblastoid active region 16812 [Gene]
  • LOC129935188:ATAC-STARR-seq lymphoblastoid active region 16813 [Gene]
  • LOC129935189:ATAC-STARR-seq lymphoblastoid active region 16814 [Gene]
  • LOC129935190:ATAC-STARR-seq lymphoblastoid active region 16815 [Gene]
  • LOC129935191:ATAC-STARR-seq lymphoblastoid active region 16816 [Gene]
  • LOC129935192:ATAC-STARR-seq lymphoblastoid active region 16817 [Gene]
  • LOC129935193:ATAC-STARR-seq lymphoblastoid active region 16818 [Gene]
  • LOC129935195:ATAC-STARR-seq lymphoblastoid active region 16819 [Gene]
  • LOC129935196:ATAC-STARR-seq lymphoblastoid active region 16820 [Gene]
  • LOC129935199:ATAC-STARR-seq lymphoblastoid active region 16821 [Gene]
  • LOC129935201:ATAC-STARR-seq lymphoblastoid active region 16822 [Gene]
  • LOC129935202:ATAC-STARR-seq lymphoblastoid active region 16823 [Gene]
  • LOC129935203:ATAC-STARR-seq lymphoblastoid active region 16824 [Gene]
  • LOC129935204:ATAC-STARR-seq lymphoblastoid active region 16825 [Gene]
  • LOC129935205:ATAC-STARR-seq lymphoblastoid active region 16826 [Gene]
  • LOC129935206:ATAC-STARR-seq lymphoblastoid active region 16827 [Gene]
  • LOC129935207:ATAC-STARR-seq lymphoblastoid active region 16828 [Gene]
  • LOC129935209:ATAC-STARR-seq lymphoblastoid active region 16829 [Gene]
  • LOC129935210:ATAC-STARR-seq lymphoblastoid active region 16830 [Gene]
  • LOC129935211:ATAC-STARR-seq lymphoblastoid active region 16831 [Gene]
  • LOC129935212:ATAC-STARR-seq lymphoblastoid active region 16832 [Gene]
  • LOC129935213:ATAC-STARR-seq lymphoblastoid active region 16833 [Gene]
  • LOC129935216:ATAC-STARR-seq lymphoblastoid active region 16834 [Gene]
  • LOC129935219:ATAC-STARR-seq lymphoblastoid active region 16835 [Gene]
  • LOC129935220:ATAC-STARR-seq lymphoblastoid active region 16836 [Gene]
  • LOC129935221:ATAC-STARR-seq lymphoblastoid active region 16837 [Gene]
  • LOC129935223:ATAC-STARR-seq lymphoblastoid active region 16838 [Gene]
  • LOC129935224:ATAC-STARR-seq lymphoblastoid active region 16839 [Gene]
  • LOC129935225:ATAC-STARR-seq lymphoblastoid active region 16840 [Gene]
  • LOC129935226:ATAC-STARR-seq lymphoblastoid active region 16841 [Gene]
  • LOC129935229:ATAC-STARR-seq lymphoblastoid active region 16842 [Gene]
  • LOC129935231:ATAC-STARR-seq lymphoblastoid active region 16843 [Gene]
  • LOC129935234:ATAC-STARR-seq lymphoblastoid active region 16844 [Gene]
  • LOC129935236:ATAC-STARR-seq lymphoblastoid active region 16845 [Gene]
  • LOC129935237:ATAC-STARR-seq lymphoblastoid active region 16847 [Gene]
  • LOC129935238:ATAC-STARR-seq lymphoblastoid active region 16848 [Gene]
  • LOC129935239:ATAC-STARR-seq lymphoblastoid active region 16849 [Gene]
  • LOC129935240:ATAC-STARR-seq lymphoblastoid active region 16850 [Gene]
  • LOC129935243:ATAC-STARR-seq lymphoblastoid active region 16851 [Gene]
  • LOC129935245:ATAC-STARR-seq lymphoblastoid active region 16852 [Gene]
  • LOC129935246:ATAC-STARR-seq lymphoblastoid active region 16853 [Gene]
  • LOC129935247:ATAC-STARR-seq lymphoblastoid active region 16857 [Gene]
  • LOC129935248:ATAC-STARR-seq lymphoblastoid active region 16858 [Gene]
  • LOC129935252:ATAC-STARR-seq lymphoblastoid active region 16859 [Gene]
  • LOC129935253:ATAC-STARR-seq lymphoblastoid active region 16860 [Gene]
  • LOC129935256:ATAC-STARR-seq lymphoblastoid active region 16861 [Gene]
  • LOC129935262:ATAC-STARR-seq lymphoblastoid active region 16863 [Gene]
  • LOC129935263:ATAC-STARR-seq lymphoblastoid active region 16864 [Gene]
  • LOC129935264:ATAC-STARR-seq lymphoblastoid active region 16865 [Gene]
  • LOC129935265:ATAC-STARR-seq lymphoblastoid active region 16866 [Gene]
  • LOC129935267:ATAC-STARR-seq lymphoblastoid active region 16867 [Gene]
  • LOC129935273:ATAC-STARR-seq lymphoblastoid active region 16869 [Gene]
  • LOC129935274:ATAC-STARR-seq lymphoblastoid active region 16870 [Gene]
  • LOC129935275:ATAC-STARR-seq lymphoblastoid active region 16871 [Gene]
  • LOC129935276:ATAC-STARR-seq lymphoblastoid active region 16872 [Gene]
  • LOC129935277:ATAC-STARR-seq lymphoblastoid active region 16873 [Gene]
  • LOC129935280:ATAC-STARR-seq lymphoblastoid active region 16874 [Gene]
  • LOC129935281:ATAC-STARR-seq lymphoblastoid active region 16875 [Gene]
  • LOC129935282:ATAC-STARR-seq lymphoblastoid active region 16876 [Gene]
  • LOC129935283:ATAC-STARR-seq lymphoblastoid active region 16877 [Gene]
  • LOC129935286:ATAC-STARR-seq lymphoblastoid active region 16878 [Gene]
  • LOC129935287:ATAC-STARR-seq lymphoblastoid active region 16879 [Gene]
  • LOC129935288:ATAC-STARR-seq lymphoblastoid active region 16880 [Gene]
  • LOC129935289:ATAC-STARR-seq lymphoblastoid active region 16881 [Gene]
  • LOC129935290:ATAC-STARR-seq lymphoblastoid active region 16883 [Gene]
  • LOC129935292:ATAC-STARR-seq lymphoblastoid active region 16884 [Gene]
  • LOC129935158:ATAC-STARR-seq lymphoblastoid silent region 12136 [Gene]
  • LOC129935161:ATAC-STARR-seq lymphoblastoid silent region 12138 [Gene]
  • LOC129935162:ATAC-STARR-seq lymphoblastoid silent region 12139 [Gene]
  • LOC129935163:ATAC-STARR-seq lymphoblastoid silent region 12140 [Gene]
  • LOC129935165:ATAC-STARR-seq lymphoblastoid silent region 12141 [Gene]
  • LOC129935168:ATAC-STARR-seq lymphoblastoid silent region 12143 [Gene]
  • LOC129935169:ATAC-STARR-seq lymphoblastoid silent region 12145 [Gene]
  • LOC129935171:ATAC-STARR-seq lymphoblastoid silent region 12146 [Gene]
  • LOC129935172:ATAC-STARR-seq lymphoblastoid silent region 12147 [Gene]
  • LOC129935177:ATAC-STARR-seq lymphoblastoid silent region 12148 [Gene]
  • LOC129935179:ATAC-STARR-seq lymphoblastoid silent region 12150 [Gene]
  • LOC129935181:ATAC-STARR-seq lymphoblastoid silent region 12151 [Gene]
  • LOC129935194:ATAC-STARR-seq lymphoblastoid silent region 12152 [Gene]
  • LOC129935197:ATAC-STARR-seq lymphoblastoid silent region 12153 [Gene]
  • LOC129935198:ATAC-STARR-seq lymphoblastoid silent region 12154 [Gene]
  • LOC129935200:ATAC-STARR-seq lymphoblastoid silent region 12155 [Gene]
  • LOC129935208:ATAC-STARR-seq lymphoblastoid silent region 12156 [Gene]
  • LOC129935214:ATAC-STARR-seq lymphoblastoid silent region 12157 [Gene]
  • LOC129935215:ATAC-STARR-seq lymphoblastoid silent region 12158 [Gene]
  • LOC129935217:ATAC-STARR-seq lymphoblastoid silent region 12159 [Gene]
  • LOC129935218:ATAC-STARR-seq lymphoblastoid silent region 12160 [Gene]
  • LOC129935222:ATAC-STARR-seq lymphoblastoid silent region 12162 [Gene]
  • LOC129935227:ATAC-STARR-seq lymphoblastoid silent region 12164 [Gene]
  • LOC129935228:ATAC-STARR-seq lymphoblastoid silent region 12165 [Gene]
  • LOC129935230:ATAC-STARR-seq lymphoblastoid silent region 12166 [Gene]
  • LOC129935232:ATAC-STARR-seq lymphoblastoid silent region 12167 [Gene]
  • LOC129935233:ATAC-STARR-seq lymphoblastoid silent region 12168 [Gene]
  • LOC129935235:ATAC-STARR-seq lymphoblastoid silent region 12169 [Gene]
  • LOC129935241:ATAC-STARR-seq lymphoblastoid silent region 12170 [Gene]
  • LOC129935242:ATAC-STARR-seq lymphoblastoid silent region 12171 [Gene]
  • LOC129935244:ATAC-STARR-seq lymphoblastoid silent region 12172 [Gene]
  • LOC129935249:ATAC-STARR-seq lymphoblastoid silent region 12174 [Gene]
  • LOC129935250:ATAC-STARR-seq lymphoblastoid silent region 12176 [Gene]
  • LOC129935251:ATAC-STARR-seq lymphoblastoid silent region 12177 [Gene]
  • LOC129935254:ATAC-STARR-seq lymphoblastoid silent region 12178 [Gene]
  • LOC129935255:ATAC-STARR-seq lymphoblastoid silent region 12179 [Gene]
  • LOC129935257:ATAC-STARR-seq lymphoblastoid silent region 12180 [Gene]
  • LOC129935258:ATAC-STARR-seq lymphoblastoid silent region 12181 [Gene]
  • LOC129935259:ATAC-STARR-seq lymphoblastoid silent region 12182 [Gene]
  • LOC129935260:ATAC-STARR-seq lymphoblastoid silent region 12183 [Gene]
  • LOC129935261:ATAC-STARR-seq lymphoblastoid silent region 12184 [Gene]
  • LOC129935266:ATAC-STARR-seq lymphoblastoid silent region 12185 [Gene]
  • LOC129935268:ATAC-STARR-seq lymphoblastoid silent region 12186 [Gene]
  • LOC129935269:ATAC-STARR-seq lymphoblastoid silent region 12187 [Gene]
  • LOC129935270:ATAC-STARR-seq lymphoblastoid silent region 12188 [Gene]
  • LOC129935271:ATAC-STARR-seq lymphoblastoid silent region 12189 [Gene]
  • LOC129935272:ATAC-STARR-seq lymphoblastoid silent region 12190 [Gene]
  • LOC129935278:ATAC-STARR-seq lymphoblastoid silent region 12191 [Gene]
  • LOC129935279:ATAC-STARR-seq lymphoblastoid silent region 12192 [Gene]
  • LOC129935284:ATAC-STARR-seq lymphoblastoid silent region 12193 [Gene]
  • LOC129935285:ATAC-STARR-seq lymphoblastoid silent region 12194 [Gene]
  • LOC129935291:ATAC-STARR-seq lymphoblastoid silent region 12197 [Gene]
  • LOC126806416:BRD4-independent group 4 enhancer GRCh37_chr2:178051754-178052953 [Gene]
  • LOC126806418:BRD4-independent group 4 enhancer GRCh37_chr2:178202734-178203933 [Gene]
  • LOC126806420:BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 [Gene]
  • LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [Gene]
  • LOC126806425:BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 [Gene]
  • LOC126806426:BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 [Gene]
  • LOC126806427:BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 [Gene]
  • LOC126806428:BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 [Gene]
  • LOC126806429:BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 [Gene]
  • LOC126806430:BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 [Gene]
  • LOC126806433:BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 [Gene]
  • LOC126806439:BRD4-independent group 4 enhancer GRCh37_chr2:181678325-181679524 [Gene]
  • LOC126806448:BRD4-independent group 4 enhancer GRCh37_chr2:191624535-191625734 [Gene]
  • LOC126806452:BRD4-independent group 4 enhancer GRCh37_chr2:192053185-192054384 [Gene]
  • CALCRL-AS1:CALCRL and TFPI antisense RNA 1 [Gene - HGNC]
  • CAVIN2-AS1:CAVIN2 and TMEFF2 antisense RNA 1 [Gene - HGNC]
  • LOC126806413:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:177453489-177454688 [Gene]
  • LOC126806421:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 [Gene]
  • LOC126806423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 [Gene]
  • LOC126806424:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 [Gene]
  • LOC126806431:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 [Gene]
  • LOC126806432:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 [Gene]
  • LOC126806443:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:185135148-185136347 [Gene]
  • LOC126806453:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:192428730-192429929 [Gene]
  • LOC126806454:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:192544033-192545232 [Gene]
  • LOC115945202:CRISPRi-validated cis-regulatory element chr2.5899 [Gene]
  • LOC115947632:CRISPRi-validated cis-regulatory element chr2.5925 [Gene]
  • CWC22:CWC22 spliceosome associated protein homolog [Gene - OMIM - HGNC]
  • DNAJC10:DnaJ heat shock protein family (Hsp40) member C10 [Gene - OMIM - HGNC]
  • EPCART:ERG-positive prostate cancer associated androgen responsive transcript [Gene - HGNC]
  • FKBP7:FKBP prolyl isomerase 7 [Gene - OMIM - HGNC]
  • FSIP2-AS1:FSIP2 antisense RNA 1 [Gene - HGNC]
  • FSIP2-AS2:FSIP2 antisense RNA 2 [Gene - HGNC]
  • GULP1:GULP PTB domain containing engulfment adaptor 1 [Gene - OMIM - HGNC]
  • HAGLROS:HAGLR opposite strand lncRNA [Gene - HGNC]
  • HAGLR:HOXD antisense growth-associated long non-coding RNA [Gene - OMIM - HGNC]
  • HOXD-AS2:HOXD cluster antisense RNA 2 [Gene - HGNC]
  • ITPRID2:ITPR interacting domain containing 2 [Gene - OMIM - HGNC]
  • LOC126806415:MED14-independent group 3 enhancer GRCh37_chr2:178034228-178035427 [Gene]
  • LOC126806417:MED14-independent group 3 enhancer GRCh37_chr2:178127429-178128628 [Gene]
  • LOC126806419:MED14-independent group 3 enhancer GRCh37_chr2:178338764-178339963 [Gene]
  • LOC126806434:MED14-independent group 3 enhancer GRCh37_chr2:179735609-179736808 [Gene]
  • LOC126806435:MED14-independent group 3 enhancer GRCh37_chr2:179738995-179740194 [Gene]
  • LOC126806436:MED14-independent group 3 enhancer GRCh37_chr2:180208678-180209877 [Gene]
  • LOC126806441:MED14-independent group 3 enhancer GRCh37_chr2:182819339-182820538 [Gene]
  • LOC126806444:MED14-independent group 3 enhancer GRCh37_chr2:186432447-186433646 [Gene]
  • LOC126806447:MED14-independent group 3 enhancer GRCh37_chr2:191472316-191473515 [Gene]
  • LOC129388954:MPRA-validated peak3947 silencer [Gene]
  • LOC129388955:MPRA-validated peak3948 silencer [Gene]
  • LOC129388956:MPRA-validated peak3949 silencer [Gene]
  • LOC129388957:MPRA-validated peak3950 silencer [Gene]
  • LOC129388958:MPRA-validated peak3953 silencer [Gene]
  • LOC129388959:MPRA-validated peak3955 silencer [Gene]
  • LOC129388960:MPRA-validated peak3959 silencer [Gene]
  • LOC129388961:MPRA-validated peak3961 silencer [Gene]
  • LOC129388962:MPRA-validated peak3962 silencer [Gene]
  • LOC129388963:MPRA-validated peak3963 silencer [Gene]
  • LOC129388964:MPRA-validated peak3964 silencer [Gene]
  • LOC129388965:MPRA-validated peak3967 silencer [Gene]
  • LOC129388966:MPRA-validated peak3970 silencer [Gene]
  • LOC129388967:MPRA-validated peak3973 silencer [Gene]
  • LOC129388968:MPRA-validated peak3974 silencer [Gene]
  • LOC129388969:MPRA-validated peak3975 silencer [Gene]
  • LOC129388970:MPRA-validated peak3978 silencer [Gene]
  • LOC129388971:MPRA-validated peak3980 silencer [Gene]
  • LOC129388972:MPRA-validated peak3982 silencer [Gene]
  • LOC129388973:MPRA-validated peak3983 silencer [Gene]
  • LOC129388974:MPRA-validated peak3984 silencer [Gene]
  • LOC129388975:MPRA-validated peak3986 silencer [Gene]
  • LOC129388976:MPRA-validated peak3989 silencer [Gene]
  • LOC129388977:MPRA-validated peak3993 silencer [Gene]
  • LOC129388978:MPRA-validated peak3994 silencer [Gene]
  • LOC129388979:MPRA-validated peak3996 silencer [Gene]
  • MYO1B-AS1:MYO1B antisense RNA 1 [Gene - HGNC]
  • NCKAP1:NCK associated protein 1 [Gene - OMIM - HGNC]
  • NEMP2-DT:NEMP2 divergent transcript [Gene - HGNC]
  • NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]
  • NAB1:NGFI-A binding protein 1 [Gene - OMIM - HGNC]
  • NRAL:NRF2 regulation associated lncRNA [Gene - HGNC]
  • LOC132088804:Neanderthal introgressed variant-containing enhancer experimental_56479 [Gene]
  • LOC132088805:Neanderthal introgressed variant-containing enhancer experimental_56698 [Gene]
  • LOC132088806:Neanderthal introgressed variant-containing enhancer experimental_56700 [Gene]
  • LOC132088807:Neanderthal introgressed variant-containing enhancer experimental_56701 [Gene]
  • LOC132088808:Neanderthal introgressed variant-containing enhancer experimental_56707 [Gene]
  • LOC132088809:Neanderthal introgressed variant-containing enhancer experimental_56714 [Gene]
  • LOC132088810:Neanderthal introgressed variant-containing enhancer experimental_56716 [Gene]
  • LOC132088811:Neanderthal introgressed variant-containing enhancer experimental_56717 [Gene]
  • LOC132088812:Neanderthal introgressed variant-containing enhancer experimental_56718 [Gene]
  • LOC132088813:Neanderthal introgressed variant-containing enhancer experimental_56719 [Gene]
  • LOC132088814:Neanderthal introgressed variant-containing enhancer experimental_56720 [Gene]
  • LOC132088815:Neanderthal introgressed variant-containing enhancer experimental_56724 [Gene]
  • OSGEPL1:O-sialoglycoprotein endopeptidase like 1 [Gene - OMIM - HGNC]
  • ORMDL1:ORMDL sphingolipid biosynthesis regulator 1 [Gene - OMIM - HGNC]
  • OSGEPL1-AS1:OSGEPL1 antisense RNA 1 [Gene - HGNC]
  • LOC126806414:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:177485641-177486840 [Gene]
  • LOC126806437:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:180324663-180325862 [Gene]
  • LOC126806438:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:181520993-181522192 [Gene]
  • LOC126806440:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182655450-182656649 [Gene]
  • LOC108281145:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182740630-182741829 [Gene]
  • LOC126806442:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:183516578-183517777 [Gene]
  • LOC126806445:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:188411556-188412755 [Gene]
  • LOC112806064:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189163339-189164538 [Gene]
  • LOC126806446:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:189866210-189867409 [Gene]
  • LOC126806449:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:191655893-191657092 [Gene]
  • LOC126806450:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:191708051-191709250 [Gene]
  • LOC126806451:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:191746471-191747670 [Gene]
  • PCGEM1:PCGEM1 prostate-specific transcript [Gene - OMIM - HGNC]
  • PDE11A-AS1:PDE11A antisense RNA 1 [Gene - HGNC]
  • PMS1:PMS1 homolog 1, mismatch repair system component [Gene - OMIM - HGNC]
  • LOC100130691:Putative uncharacterized protein FLJ44553 [Gene]
  • RBM45:RNA binding motif protein 45 [Gene - OMIM - HGNC]
  • SESTD1:SEC14 and spectrin domain containing 1 [Gene - HGNC]
  • STAT4-AS1:STAT4 antisense RNA 1 [Gene - HGNC]
  • SCHLAP1:SWI/SNF complex antagonist associated with prostate cancer 1 [Gene - OMIM - HGNC]
  • LOC112806066:Sharpr-MPRA regulatory region 10229 [Gene]
  • LOC122861268:Sharpr-MPRA regulatory region 10664 [Gene]
  • LOC122861260:Sharpr-MPRA regulatory region 10987 [Gene]
  • LOC122861258:Sharpr-MPRA regulatory region 1228 [Gene]
  • LOC122861265:Sharpr-MPRA regulatory region 13129 [Gene]
  • LOC122861249:Sharpr-MPRA regulatory region 13302 [Gene]
  • LOC122861267:Sharpr-MPRA regulatory region 13492 [Gene]
  • LOC112806063:Sharpr-MPRA regulatory region 14191 [Gene]
  • LOC122861253:Sharpr-MPRA regulatory region 14377 [Gene]
  • LOC122861271:Sharpr-MPRA regulatory region 14503 [Gene]
  • LOC122861261:Sharpr-MPRA regulatory region 14896 [Gene]
  • LOC122861262:Sharpr-MPRA regulatory region 15031 [Gene]
  • LOC122861247:Sharpr-MPRA regulatory region 15219 [Gene]
  • LOC122861254:Sharpr-MPRA regulatory region 15369 [Gene]
  • LOC121725108:Sharpr-MPRA regulatory region 15485 [Gene]
  • LOC122861266:Sharpr-MPRA regulatory region 15572 [Gene]
  • LOC122861270:Sharpr-MPRA regulatory region 1767 [Gene]
  • LOC122861252:Sharpr-MPRA regulatory region 2066 [Gene]
  • LOC112806068:Sharpr-MPRA regulatory region 2977 [Gene]
  • LOC122861273:Sharpr-MPRA regulatory region 3165 [Gene]
  • LOC120977017:Sharpr-MPRA regulatory region 3391 [Gene]
  • LOC120977016:Sharpr-MPRA regulatory region 4096 [Gene]
  • LOC112806065:Sharpr-MPRA regulatory region 4599 [Gene]
  • LOC122861251:Sharpr-MPRA regulatory region 4724 [Gene]
  • LOC112806061:Sharpr-MPRA regulatory region 4751 [Gene]
  • LOC122861272:Sharpr-MPRA regulatory region 5853 [Gene]
  • LOC122861264:Sharpr-MPRA regulatory region 6200 [Gene]
  • LOC112806067:Sharpr-MPRA regulatory region 6341 [Gene]
  • LOC122861257:Sharpr-MPRA regulatory region 7285 [Gene]
  • LOC112806062:Sharpr-MPRA regulatory region 7527 [Gene]
  • LOC122861255:Sharpr-MPRA regulatory region 8011 [Gene]
  • LOC122861259:Sharpr-MPRA regulatory region 8338 [Gene]
  • LOC122861248:Sharpr-MPRA regulatory region 8538 [Gene]
  • LOC122861269:Sharpr-MPRA regulatory region 8723 [Gene]
  • LOC122861263:Sharpr-MPRA regulatory region 9118 [Gene]
  • LOC122861256:Sharpr-MPRA regulatory region 9723 [Gene]
  • LOC122861250:Sharpr-MPRA regulatory region 9735 [Gene]
  • TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
  • UBE2E3-DT:UBE2E3 divergent transcript [Gene - HGNC]
  • LOC110120628:VISTA enhancer hs248 [Gene]
  • WDR75:WD repeat domain 75 [Gene - OMIM - HGNC]
  • AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
  • ANKAR:ankyrin and armadillo repeat containing [Gene - OMIM - HGNC]
  • ASNSD1:asparagine synthetase domain containing 1 [Gene - OMIM - HGNC]
  • CALCRL:calcitonin receptor like receptor [Gene - OMIM - HGNC]
  • CAVIN2:caveolae associated protein 2 [Gene - OMIM - HGNC]
  • CERKL:ceramide kinase like [Gene - OMIM - HGNC]
  • CHROMR:cholesterol induced regulator of metabolism RNA [Gene - HGNC]
  • C2orf88:chromosome 2 open reading frame 88 [Gene - OMIM - HGNC]
  • CCDC141:coiled-coil domain containing 141 [Gene - OMIM - HGNC]
  • COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
  • COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]
  • DIRC1:disrupted in renal carcinoma 1 [Gene - OMIM - HGNC]
  • DUSP19:dual specificity phosphatase 19 [Gene - OMIM - HGNC]
  • FAM171B:family with sequence similarity 171 member B [Gene - OMIM - HGNC]
  • FSIP2:fibrous sheath interacting protein 2 [Gene - OMIM - HGNC]
  • FRZB:frizzled related protein [Gene - OMIM - HGNC]
  • GLS:glutaminase [Gene - OMIM - HGNC]
  • LOC729254:hCG2045843 [Gene]
  • HNRNPA3:heterogeneous nuclear ribonucleoprotein A3 [Gene - OMIM - HGNC]
  • HOXD10:homeobox D10 [Gene - OMIM - HGNC]
  • HOXD11:homeobox D11 [Gene - OMIM - HGNC]
  • HOXD12:homeobox D12 [Gene - OMIM - HGNC]
  • HOXD13:homeobox D13 [Gene - OMIM - HGNC]
  • HOXD1:homeobox D1 [Gene - OMIM - HGNC]
  • HOXD3:homeobox D3 [Gene - OMIM - HGNC]
  • HOXD4:homeobox D4 [Gene - OMIM - HGNC]
  • HOXD8:homeobox D8 [Gene - OMIM - HGNC]
  • HOXD9:homeobox D9 [Gene - OMIM - HGNC]
  • INPP1:inositol polyphosphate-1-phosphatase [Gene - OMIM - HGNC]
  • ITGA4:integrin subunit alpha 4 [Gene - OMIM - HGNC]
  • ITGAV:integrin subunit alpha V [Gene - OMIM - HGNC]
  • IFT70A:intraflagellar transport 70A [Gene - OMIM - HGNC]
  • IFT70B:intraflagellar transport 70B [Gene - OMIM - HGNC]
  • LINC01090:long intergenic non-protein coding RNA 1090 [Gene - HGNC]
  • LINC01116:long intergenic non-protein coding RNA 1116 [Gene - HGNC]
  • LINC01117:long intergenic non-protein coding RNA 1117 [Gene - HGNC]
  • LINC01473:long intergenic non-protein coding RNA 1473 [Gene - HGNC]
  • LINC01934:long intergenic non-protein coding RNA 1934 [Gene - HGNC]
  • MFSD6:major facilitator superfamily domain containing 6 [Gene - OMIM - HGNC]
  • MTX2:metaxin 2 [Gene - OMIM - HGNC]
  • MIR10B:microRNA 10b [Gene - OMIM - HGNC]
  • MIR1245A:microRNA 1245a [Gene - HGNC]
  • MIR1245B:microRNA 1245b [Gene - HGNC]
  • MIR1246:microRNA 1246 [Gene - HGNC]
  • MIR1258:microRNA 1258 [Gene - OMIM - HGNC]
  • MIR3128:microRNA 3128 [Gene - HGNC]
  • MIR3129:microRNA 3129 [Gene - HGNC]
  • MIR3606:microRNA 3606 [Gene - HGNC]
  • MIR4437:microRNA 4437 [Gene - HGNC]
  • MIR4444-1:microRNA 4444-1 [Gene - HGNC]
  • MIR548AE1:microRNA 548ae-1 [Gene - HGNC]
  • MIR561:microRNA 561 [Gene - HGNC]
  • MIR6512:microRNA 6512 [Gene - HGNC]
  • MIR7704:microRNA 7704 [Gene - HGNC]
  • MYO1B:myosin IB [Gene - OMIM - HGNC]
  • MSTN:myostatin [Gene - OMIM - HGNC]
  • NEUROD1:neuronal differentiation 1 [Gene - OMIM - HGNC]
  • NEMP2:nuclear envelope integral membrane protein 2 [Gene - OMIM - HGNC]
  • NABP1:nucleic acid binding protein 1 [Gene - OMIM - HGNC]
  • NUP35:nucleoporin 35 [Gene - OMIM - HGNC]
  • OSBPL6:oxysterol binding protein like 6 [Gene - OMIM - HGNC]
  • PJVK:pejvakin [Gene - OMIM - HGNC]
  • PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
  • PDE1A:phosphodiesterase 1A [Gene - OMIM - HGNC]
  • PLEKHA3:pleckstrin homology domain containing A3 [Gene - OMIM - HGNC]
  • LOC105373780:proline-rich protein 18-like [Gene]
  • PRKRA:protein activator of interferon induced protein kinase EIF2AK2 [Gene - OMIM - HGNC]
  • PPP1R1C:protein phosphatase 1 regulatory inhibitor subunit 1C [Gene - OMIM - HGNC]
  • LOC124906109:serine/arginine repetitive matrix protein 1 [Gene]
  • STAT1:signal transducer and activator of transcription 1 [Gene - OMIM - HGNC]
  • STAT4:signal transducer and activator of transcription 4 [Gene - OMIM - HGNC]
  • SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]
  • TFPI:tissue factor pathway inhibitor [Gene - OMIM - HGNC]
  • TTN:titin [Gene - OMIM - HGNC]
  • TMEFF2:transmembrane protein with EGF like and two follistatin like domains 2 [Gene - OMIM - HGNC]
  • UBE2E3:ubiquitin conjugating enzyme E2 E3 [Gene - OMIM - HGNC]
  • LOC100129455:uncharacterized LOC100129455 [Gene]
  • LOC101927055:uncharacterized LOC101927055 [Gene]
  • LOC105373757:uncharacterized LOC105373757 [Gene]
  • LOC105373759:uncharacterized LOC105373759 [Gene]
  • LOC105373782:uncharacterized LOC105373782 [Gene]
  • LOC401021:uncharacterized LOC401021 [Gene]
  • ZC3H15:zinc finger CCCH-type containing 15 [Gene - OMIM - HGNC]
  • ZSWIM2:zinc finger SWIM-type containing 2 [Gene - HGNC]
  • ZNF385B:zinc finger protein 385B [Gene - OMIM - HGNC]
  • ZNF804A:zinc finger protein 804A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q31.1-32.3
Genomic location:
Preferred name:
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1
HGVS:
  • NC_000002.12:g.(?_176086763)_(193201970_?)del
  • NC_000002.10:g.(?_176659737)_(193774941_?)del
  • NC_000002.11:g.(?_176951491)_(194066696_?)del
Links:
dbVar: nssv3397079; dbVar: nsv995490
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000182913ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 25, 2013) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000182913.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024