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GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 2010
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:
RCV000136861.5

Allele description [Variation Report for GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1]

GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1

Genes:
  • LOC129935144:ATAC-STARR-seq lymphoblastoid active region 16783 [Gene]
  • LOC129935145:ATAC-STARR-seq lymphoblastoid active region 16784 [Gene]
  • LOC129935146:ATAC-STARR-seq lymphoblastoid active region 16785 [Gene]
  • LOC129935149:ATAC-STARR-seq lymphoblastoid active region 16786 [Gene]
  • LOC129935154:ATAC-STARR-seq lymphoblastoid active region 16787 [Gene]
  • LOC129935156:ATAC-STARR-seq lymphoblastoid active region 16788 [Gene]
  • 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]
  • LOC129935147:ATAC-STARR-seq lymphoblastoid silent region 12128 [Gene]
  • LOC129935148:ATAC-STARR-seq lymphoblastoid silent region 12129 [Gene]
  • LOC129935150:ATAC-STARR-seq lymphoblastoid silent region 12130 [Gene]
  • LOC129935151:ATAC-STARR-seq lymphoblastoid silent region 12131 [Gene]
  • LOC129935152:ATAC-STARR-seq lymphoblastoid silent region 12132 [Gene]
  • LOC129935153:ATAC-STARR-seq lymphoblastoid silent region 12133 [Gene]
  • LOC129935155:ATAC-STARR-seq lymphoblastoid silent region 12134 [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]
  • ATP5MC3:ATP synthase membrane subunit c locus 3 [Gene - OMIM - HGNC]
  • 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]
  • CALCRL-AS1:CALCRL and TFPI antisense RNA 1 [Gene - HGNC]
  • LOC126806411:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:176342216-176343415 [Gene]
  • LOC126806412:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:176651769-176652968 [Gene]
  • 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]
  • 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]
  • LOC126806410:MED14-independent group 3 enhancer GRCh37_chr2:175778728-175779927 [Gene]
  • 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]
  • LOC129388947:MPRA-validated peak3936 silencer [Gene]
  • LOC129388948:MPRA-validated peak3937 silencer [Gene]
  • LOC129388949:MPRA-validated peak3938 silencer [Gene]
  • LOC129388950:MPRA-validated peak3940 silencer [Gene]
  • LOC129388951:MPRA-validated peak3942 silencer [Gene]
  • LOC129388952:MPRA-validated peak3944 silencer [Gene]
  • LOC129388953:MPRA-validated peak3945 silencer [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]
  • NCKAP1:NCK associated protein 1 [Gene - OMIM - HGNC]
  • NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]
  • NRAL:NRF2 regulation associated lncRNA [Gene - HGNC]
  • LOC107126359:NUP98-HOXD13 recombination region [Gene]
  • 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]
  • 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]
  • PDE11A-AS1:PDE11A antisense RNA 1 [Gene - 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]
  • SCHLAP1:SWI/SNF complex antagonist associated with prostate cancer 1 [Gene - OMIM - HGNC]
  • 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]
  • LOC122861244:Sharpr-MPRA regulatory region 13906 [Gene]
  • LOC122861242:Sharpr-MPRA regulatory region 13988 [Gene]
  • LOC112806063:Sharpr-MPRA regulatory region 14191 [Gene]
  • LOC122861253:Sharpr-MPRA regulatory region 14377 [Gene]
  • LOC122861261:Sharpr-MPRA regulatory region 14896 [Gene]
  • LOC122861243:Sharpr-MPRA regulatory region 14969 [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]
  • LOC122861246:Sharpr-MPRA regulatory region 1697 [Gene]
  • LOC122861252:Sharpr-MPRA regulatory region 2066 [Gene]
  • LOC120977016:Sharpr-MPRA regulatory region 4096 [Gene]
  • LOC120977015:Sharpr-MPRA regulatory region 431 [Gene]
  • LOC122861251:Sharpr-MPRA regulatory region 4724 [Gene]
  • LOC112806061:Sharpr-MPRA regulatory region 4751 [Gene]
  • LOC122861264:Sharpr-MPRA regulatory region 6200 [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]
  • LOC122861245:Sharpr-MPRA regulatory region 9658 [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]
  • LOC110120627:VISTA enhancer hs246 [Gene]
  • LOC110120628:VISTA enhancer hs248 [Gene]
  • WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]
  • ATF2:activating transcription factor 2 [Gene - OMIM - HGNC]
  • AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
  • CALCRL:calcitonin receptor like receptor [Gene - OMIM - HGNC]
  • CERKL:ceramide kinase like [Gene - OMIM - HGNC]
  • CHN1:chimerin 1 [Gene - OMIM - HGNC]
  • CHROMR:cholesterol induced regulator of metabolism RNA [Gene - HGNC]
  • CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
  • CCDC141:coiled-coil domain containing 141 [Gene - OMIM - HGNC]
  • COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
  • DIRC1:disrupted in renal carcinoma 1 [Gene - OMIM - HGNC]
  • DUSP19:dual specificity phosphatase 19 [Gene - OMIM - HGNC]
  • EVX2:even-skipped homeobox 2 [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]
  • 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]
  • ITGA4:integrin subunit alpha 4 [Gene - OMIM - HGNC]
  • ITGAV:integrin subunit alpha V [Gene - OMIM - HGNC]
  • IFT70A:intraflagellar transport 70A [Gene - HGNC]
  • IFT70B:intraflagellar transport 70B [Gene - 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]
  • LNPK:lunapark, ER junction formation factor [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]
  • 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]
  • MIR933:microRNA 933 [Gene - HGNC]
  • NEUROD1:neuronal differentiation 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]
  • TFPI:tissue factor pathway inhibitor [Gene - OMIM - HGNC]
  • TTN:titin [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:
2q31.1-32.2
Genomic location:
Preferred name:
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1
HGVS:
  • NC_000002.12:g.(?_174634502)_(189000964_?)del
  • NC_000002.10:g.(?_175207476)_(189573935_?)del
  • NC_000002.11:g.(?_175499230)_(189865690_?)del
Links:
dbVar: nssv582201; dbVar: nsv534214
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176992ISCA site 8

See additional submitters

no assertion criteria provided
Pathogenic
(Oct 14, 2010) 		not providedclinical 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 8, SCV000176992.3

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

Last Updated: Oct 14, 2023