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GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 AND Neurodevelopmental disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
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:
RCV003327606.3

Allele description [Variation Report for GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1]

GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1

Genes:
  • AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
  • AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • LOC130056511:ATAC-STARR-seq lymphoblastoid active region 9069 [Gene]
  • LOC130056514:ATAC-STARR-seq lymphoblastoid active region 9070 [Gene]
  • LOC130056517:ATAC-STARR-seq lymphoblastoid active region 9071 [Gene]
  • LOC130056518:ATAC-STARR-seq lymphoblastoid active region 9072 [Gene]
  • LOC130056522:ATAC-STARR-seq lymphoblastoid active region 9073 [Gene]
  • LOC130056528:ATAC-STARR-seq lymphoblastoid active region 9074 [Gene]
  • LOC130056529:ATAC-STARR-seq lymphoblastoid active region 9075 [Gene]
  • LOC130056531:ATAC-STARR-seq lymphoblastoid active region 9076 [Gene]
  • LOC130056532:ATAC-STARR-seq lymphoblastoid active region 9077 [Gene]
  • LOC130056533:ATAC-STARR-seq lymphoblastoid active region 9078 [Gene]
  • LOC130056534:ATAC-STARR-seq lymphoblastoid active region 9079 [Gene]
  • LOC130056535:ATAC-STARR-seq lymphoblastoid active region 9081 [Gene]
  • LOC130056536:ATAC-STARR-seq lymphoblastoid active region 9082 [Gene]
  • LOC130056541:ATAC-STARR-seq lymphoblastoid active region 9083 [Gene]
  • LOC130056542:ATAC-STARR-seq lymphoblastoid active region 9084 [Gene]
  • LOC130056543:ATAC-STARR-seq lymphoblastoid active region 9085 [Gene]
  • LOC130056545:ATAC-STARR-seq lymphoblastoid active region 9086 [Gene]
  • LOC130056546:ATAC-STARR-seq lymphoblastoid active region 9087 [Gene]
  • LOC130056547:ATAC-STARR-seq lymphoblastoid active region 9088 [Gene]
  • LOC130056548:ATAC-STARR-seq lymphoblastoid active region 9089 [Gene]
  • LOC130056549:ATAC-STARR-seq lymphoblastoid active region 9090 [Gene]
  • LOC130056550:ATAC-STARR-seq lymphoblastoid active region 9091 [Gene]
  • LOC130056551:ATAC-STARR-seq lymphoblastoid active region 9092 [Gene]
  • LOC130056555:ATAC-STARR-seq lymphoblastoid active region 9093 [Gene]
  • LOC130056562:ATAC-STARR-seq lymphoblastoid active region 9094 [Gene]
  • LOC130056563:ATAC-STARR-seq lymphoblastoid active region 9095 [Gene]
  • LOC130056565:ATAC-STARR-seq lymphoblastoid active region 9096 [Gene]
  • LOC130056567:ATAC-STARR-seq lymphoblastoid active region 9097 [Gene]
  • LOC130056568:ATAC-STARR-seq lymphoblastoid active region 9098 [Gene]
  • LOC130056570:ATAC-STARR-seq lymphoblastoid active region 9099 [Gene]
  • LOC130056571:ATAC-STARR-seq lymphoblastoid active region 9100 [Gene]
  • LOC130056572:ATAC-STARR-seq lymphoblastoid active region 9101 [Gene]
  • LOC130056578:ATAC-STARR-seq lymphoblastoid active region 9103 [Gene]
  • LOC130056579:ATAC-STARR-seq lymphoblastoid active region 9104 [Gene]
  • LOC130056585:ATAC-STARR-seq lymphoblastoid active region 9105 [Gene]
  • LOC130056586:ATAC-STARR-seq lymphoblastoid active region 9106 [Gene]
  • LOC130056589:ATAC-STARR-seq lymphoblastoid active region 9107 [Gene]
  • LOC130056590:ATAC-STARR-seq lymphoblastoid active region 9108 [Gene]
  • LOC130056592:ATAC-STARR-seq lymphoblastoid active region 9109 [Gene]
  • LOC130056599:ATAC-STARR-seq lymphoblastoid active region 9110 [Gene]
  • LOC130056606:ATAC-STARR-seq lymphoblastoid active region 9111 [Gene]
  • LOC130056607:ATAC-STARR-seq lymphoblastoid active region 9112 [Gene]
  • LOC130056614:ATAC-STARR-seq lymphoblastoid active region 9113 [Gene]
  • LOC130056616:ATAC-STARR-seq lymphoblastoid active region 9114 [Gene]
  • LOC130056617:ATAC-STARR-seq lymphoblastoid active region 9115 [Gene]
  • LOC130056621:ATAC-STARR-seq lymphoblastoid active region 9116 [Gene]
  • LOC130056622:ATAC-STARR-seq lymphoblastoid active region 9117 [Gene]
  • LOC130056623:ATAC-STARR-seq lymphoblastoid active region 9118 [Gene]
  • LOC130056626:ATAC-STARR-seq lymphoblastoid active region 9120 [Gene]
  • LOC130056632:ATAC-STARR-seq lymphoblastoid active region 9121 [Gene]
  • LOC130056640:ATAC-STARR-seq lymphoblastoid active region 9124 [Gene]
  • LOC130056643:ATAC-STARR-seq lymphoblastoid active region 9125 [Gene]
  • LOC130056645:ATAC-STARR-seq lymphoblastoid active region 9126 [Gene]
  • LOC130056649:ATAC-STARR-seq lymphoblastoid active region 9127 [Gene]
  • LOC130056650:ATAC-STARR-seq lymphoblastoid active region 9128 [Gene]
  • LOC130056652:ATAC-STARR-seq lymphoblastoid active region 9129 [Gene]
  • LOC130056653:ATAC-STARR-seq lymphoblastoid active region 9130 [Gene]
  • LOC130056654:ATAC-STARR-seq lymphoblastoid active region 9131 [Gene]
  • LOC130056655:ATAC-STARR-seq lymphoblastoid active region 9132 [Gene]
  • LOC130056656:ATAC-STARR-seq lymphoblastoid active region 9133 [Gene]
  • LOC130056657:ATAC-STARR-seq lymphoblastoid active region 9134 [Gene]
  • LOC130056658:ATAC-STARR-seq lymphoblastoid active region 9135 [Gene]
  • LOC130056659:ATAC-STARR-seq lymphoblastoid active region 9137 [Gene]
  • LOC130056660:ATAC-STARR-seq lymphoblastoid active region 9138 [Gene]
  • LOC130056666:ATAC-STARR-seq lymphoblastoid active region 9140 [Gene]
  • LOC130056669:ATAC-STARR-seq lymphoblastoid active region 9141 [Gene]
  • LOC130056670:ATAC-STARR-seq lymphoblastoid active region 9142 [Gene]
  • LOC130056671:ATAC-STARR-seq lymphoblastoid active region 9143 [Gene]
  • LOC130056672:ATAC-STARR-seq lymphoblastoid active region 9144 [Gene]
  • LOC130056678:ATAC-STARR-seq lymphoblastoid active region 9145 [Gene]
  • LOC130056679:ATAC-STARR-seq lymphoblastoid active region 9146 [Gene]
  • LOC130056693:ATAC-STARR-seq lymphoblastoid active region 9149 [Gene]
  • LOC130056701:ATAC-STARR-seq lymphoblastoid active region 9151 [Gene]
  • LOC130056512:ATAC-STARR-seq lymphoblastoid silent region 6112 [Gene]
  • LOC130056513:ATAC-STARR-seq lymphoblastoid silent region 6113 [Gene]
  • LOC130056515:ATAC-STARR-seq lymphoblastoid silent region 6114 [Gene]
  • LOC130056516:ATAC-STARR-seq lymphoblastoid silent region 6115 [Gene]
  • LOC130056519:ATAC-STARR-seq lymphoblastoid silent region 6116 [Gene]
  • LOC130056520:ATAC-STARR-seq lymphoblastoid silent region 6119 [Gene]
  • LOC130056521:ATAC-STARR-seq lymphoblastoid silent region 6120 [Gene]
  • LOC130056523:ATAC-STARR-seq lymphoblastoid silent region 6121 [Gene]
  • LOC130056524:ATAC-STARR-seq lymphoblastoid silent region 6122 [Gene]
  • LOC130056525:ATAC-STARR-seq lymphoblastoid silent region 6123 [Gene]
  • LOC130056526:ATAC-STARR-seq lymphoblastoid silent region 6124 [Gene]
  • LOC130056527:ATAC-STARR-seq lymphoblastoid silent region 6125 [Gene]
  • LOC130056530:ATAC-STARR-seq lymphoblastoid silent region 6127 [Gene]
  • LOC130056537:ATAC-STARR-seq lymphoblastoid silent region 6128 [Gene]
  • LOC130056538:ATAC-STARR-seq lymphoblastoid silent region 6129 [Gene]
  • LOC130056539:ATAC-STARR-seq lymphoblastoid silent region 6130 [Gene]
  • LOC130056540:ATAC-STARR-seq lymphoblastoid silent region 6131 [Gene]
  • LOC130056544:ATAC-STARR-seq lymphoblastoid silent region 6132 [Gene]
  • LOC130056552:ATAC-STARR-seq lymphoblastoid silent region 6134 [Gene]
  • LOC130056553:ATAC-STARR-seq lymphoblastoid silent region 6135 [Gene]
  • LOC130056554:ATAC-STARR-seq lymphoblastoid silent region 6136 [Gene]
  • LOC130056556:ATAC-STARR-seq lymphoblastoid silent region 6137 [Gene]
  • LOC130056557:ATAC-STARR-seq lymphoblastoid silent region 6138 [Gene]
  • LOC130056558:ATAC-STARR-seq lymphoblastoid silent region 6139 [Gene]
  • LOC130056559:ATAC-STARR-seq lymphoblastoid silent region 6140 [Gene]
  • LOC130056560:ATAC-STARR-seq lymphoblastoid silent region 6141 [Gene]
  • LOC130056561:ATAC-STARR-seq lymphoblastoid silent region 6142 [Gene]
  • LOC130056564:ATAC-STARR-seq lymphoblastoid silent region 6144 [Gene]
  • LOC130056566:ATAC-STARR-seq lymphoblastoid silent region 6146 [Gene]
  • LOC130056569:ATAC-STARR-seq lymphoblastoid silent region 6147 [Gene]
  • LOC130056573:ATAC-STARR-seq lymphoblastoid silent region 6148 [Gene]
  • LOC130056574:ATAC-STARR-seq lymphoblastoid silent region 6149 [Gene]
  • LOC130056575:ATAC-STARR-seq lymphoblastoid silent region 6150 [Gene]
  • LOC130056576:ATAC-STARR-seq lymphoblastoid silent region 6152 [Gene]
  • LOC130056577:ATAC-STARR-seq lymphoblastoid silent region 6153 [Gene]
  • LOC130056580:ATAC-STARR-seq lymphoblastoid silent region 6155 [Gene]
  • LOC130056581:ATAC-STARR-seq lymphoblastoid silent region 6156 [Gene]
  • LOC130056582:ATAC-STARR-seq lymphoblastoid silent region 6157 [Gene]
  • LOC130056583:ATAC-STARR-seq lymphoblastoid silent region 6158 [Gene]
  • LOC130056584:ATAC-STARR-seq lymphoblastoid silent region 6159 [Gene]
  • LOC130056587:ATAC-STARR-seq lymphoblastoid silent region 6160 [Gene]
  • LOC130056588:ATAC-STARR-seq lymphoblastoid silent region 6161 [Gene]
  • LOC130056591:ATAC-STARR-seq lymphoblastoid silent region 6162 [Gene]
  • LOC130056593:ATAC-STARR-seq lymphoblastoid silent region 6163 [Gene]
  • LOC130056594:ATAC-STARR-seq lymphoblastoid silent region 6164 [Gene]
  • LOC130056595:ATAC-STARR-seq lymphoblastoid silent region 6165 [Gene]
  • LOC130056596:ATAC-STARR-seq lymphoblastoid silent region 6166 [Gene]
  • LOC130056597:ATAC-STARR-seq lymphoblastoid silent region 6167 [Gene]
  • LOC130056598:ATAC-STARR-seq lymphoblastoid silent region 6168 [Gene]
  • LOC130056600:ATAC-STARR-seq lymphoblastoid silent region 6170 [Gene]
  • LOC130056601:ATAC-STARR-seq lymphoblastoid silent region 6171 [Gene]
  • LOC130056602:ATAC-STARR-seq lymphoblastoid silent region 6172 [Gene]
  • LOC130056603:ATAC-STARR-seq lymphoblastoid silent region 6173 [Gene]
  • LOC130056604:ATAC-STARR-seq lymphoblastoid silent region 6174 [Gene]
  • LOC130056605:ATAC-STARR-seq lymphoblastoid silent region 6175 [Gene]
  • LOC130056608:ATAC-STARR-seq lymphoblastoid silent region 6176 [Gene]
  • LOC130056609:ATAC-STARR-seq lymphoblastoid silent region 6177 [Gene]
  • LOC130056610:ATAC-STARR-seq lymphoblastoid silent region 6178 [Gene]
  • LOC130056611:ATAC-STARR-seq lymphoblastoid silent region 6179 [Gene]
  • LOC130056612:ATAC-STARR-seq lymphoblastoid silent region 6180 [Gene]
  • LOC130056613:ATAC-STARR-seq lymphoblastoid silent region 6181 [Gene]
  • LOC130056615:ATAC-STARR-seq lymphoblastoid silent region 6182 [Gene]
  • LOC130056618:ATAC-STARR-seq lymphoblastoid silent region 6185 [Gene]
  • LOC130056619:ATAC-STARR-seq lymphoblastoid silent region 6186 [Gene]
  • LOC130056620:ATAC-STARR-seq lymphoblastoid silent region 6187 [Gene]
  • LOC130056624:ATAC-STARR-seq lymphoblastoid silent region 6188 [Gene]
  • LOC130056625:ATAC-STARR-seq lymphoblastoid silent region 6189 [Gene]
  • LOC130056627:ATAC-STARR-seq lymphoblastoid silent region 6191 [Gene]
  • LOC130056628:ATAC-STARR-seq lymphoblastoid silent region 6192 [Gene]
  • LOC130056629:ATAC-STARR-seq lymphoblastoid silent region 6193 [Gene]
  • LOC130056630:ATAC-STARR-seq lymphoblastoid silent region 6194 [Gene]
  • LOC130056631:ATAC-STARR-seq lymphoblastoid silent region 6195 [Gene]
  • LOC130056633:ATAC-STARR-seq lymphoblastoid silent region 6196 [Gene]
  • LOC130056634:ATAC-STARR-seq lymphoblastoid silent region 6197 [Gene]
  • LOC130056635:ATAC-STARR-seq lymphoblastoid silent region 6198 [Gene]
  • LOC130056636:ATAC-STARR-seq lymphoblastoid silent region 6199 [Gene]
  • LOC130056637:ATAC-STARR-seq lymphoblastoid silent region 6200 [Gene]
  • LOC130056638:ATAC-STARR-seq lymphoblastoid silent region 6201 [Gene]
  • LOC130056639:ATAC-STARR-seq lymphoblastoid silent region 6202 [Gene]
  • LOC130056641:ATAC-STARR-seq lymphoblastoid silent region 6204 [Gene]
  • LOC130056642:ATAC-STARR-seq lymphoblastoid silent region 6205 [Gene]
  • LOC130056644:ATAC-STARR-seq lymphoblastoid silent region 6206 [Gene]
  • LOC130056646:ATAC-STARR-seq lymphoblastoid silent region 6207 [Gene]
  • LOC130056647:ATAC-STARR-seq lymphoblastoid silent region 6208 [Gene]
  • LOC130056648:ATAC-STARR-seq lymphoblastoid silent region 6209 [Gene]
  • LOC130056651:ATAC-STARR-seq lymphoblastoid silent region 6213 [Gene]
  • LOC130056661:ATAC-STARR-seq lymphoblastoid silent region 6214 [Gene]
  • LOC130056662:ATAC-STARR-seq lymphoblastoid silent region 6215 [Gene]
  • LOC130056663:ATAC-STARR-seq lymphoblastoid silent region 6216 [Gene]
  • LOC130056664:ATAC-STARR-seq lymphoblastoid silent region 6217 [Gene]
  • LOC130056665:ATAC-STARR-seq lymphoblastoid silent region 6218 [Gene]
  • LOC130056667:ATAC-STARR-seq lymphoblastoid silent region 6221 [Gene]
  • LOC130056668:ATAC-STARR-seq lymphoblastoid silent region 6223 [Gene]
  • LOC130056673:ATAC-STARR-seq lymphoblastoid silent region 6224 [Gene]
  • LOC130056674:ATAC-STARR-seq lymphoblastoid silent region 6225 [Gene]
  • LOC130056675:ATAC-STARR-seq lymphoblastoid silent region 6226 [Gene]
  • LOC130056676:ATAC-STARR-seq lymphoblastoid silent region 6227 [Gene]
  • LOC130056677:ATAC-STARR-seq lymphoblastoid silent region 6228 [Gene]
  • LOC130056680:ATAC-STARR-seq lymphoblastoid silent region 6230 [Gene]
  • LOC130056681:ATAC-STARR-seq lymphoblastoid silent region 6232 [Gene]
  • LOC130056682:ATAC-STARR-seq lymphoblastoid silent region 6233 [Gene]
  • LOC130056683:ATAC-STARR-seq lymphoblastoid silent region 6234 [Gene]
  • LOC130056684:ATAC-STARR-seq lymphoblastoid silent region 6235 [Gene]
  • LOC130056685:ATAC-STARR-seq lymphoblastoid silent region 6236 [Gene]
  • LOC130056686:ATAC-STARR-seq lymphoblastoid silent region 6237 [Gene]
  • LOC130056687:ATAC-STARR-seq lymphoblastoid silent region 6238 [Gene]
  • LOC130056688:ATAC-STARR-seq lymphoblastoid silent region 6239 [Gene]
  • LOC130056689:ATAC-STARR-seq lymphoblastoid silent region 6240 [Gene]
  • LOC130056690:ATAC-STARR-seq lymphoblastoid silent region 6241 [Gene]
  • LOC130056691:ATAC-STARR-seq lymphoblastoid silent region 6242 [Gene]
  • LOC130056692:ATAC-STARR-seq lymphoblastoid silent region 6243 [Gene]
  • LOC130056694:ATAC-STARR-seq lymphoblastoid silent region 6245 [Gene]
  • LOC130056695:ATAC-STARR-seq lymphoblastoid silent region 6246 [Gene]
  • LOC130056696:ATAC-STARR-seq lymphoblastoid silent region 6247 [Gene]
  • LOC130056697:ATAC-STARR-seq lymphoblastoid silent region 6248 [Gene]
  • LOC130056698:ATAC-STARR-seq lymphoblastoid silent region 6249 [Gene]
  • LOC130056699:ATAC-STARR-seq lymphoblastoid silent region 6250 [Gene]
  • LOC130056700:ATAC-STARR-seq lymphoblastoid silent region 6253 [Gene]
  • LOC130056702:ATAC-STARR-seq lymphoblastoid silent region 6254 [Gene]
  • ATP5MJ:ATP synthase membrane subunit j [Gene - OMIM - HGNC]
  • LOC108348026:ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer [Gene]
  • BAG5:BAG cochaperone 5 [Gene - OMIM - HGNC]
  • LOC126862065:BRD4-independent group 4 enhancer GRCh37_chr14:103352003-103353202 [Gene]
  • LOC126862069:BRD4-independent group 4 enhancer GRCh37_chr14:104483234-104484433 [Gene]
  • LOC126862070:BRD4-independent group 4 enhancer GRCh37_chr14:105536095-105537294 [Gene]
  • LOC126862073:BRD4-independent group 4 enhancer GRCh37_chr14:106662526-106663725 [Gene]
  • BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • BTBD6:BTB domain containing 6 [Gene - HGNC]
  • CDC42BPB:CDC42 binding protein kinase beta [Gene - OMIM - HGNC]
  • LOC126862066:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:103411482-103412681 [Gene]
  • LOC126862072:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:106657005-106658204 [Gene]
  • LOC116268464:CRISPRi-validated cis-regulatory element chr14.2493 [Gene]
  • EIF5-DT:EIF5 divergent transcript [Gene - HGNC]
  • GPR132:G protein-coupled receptor 132 [Gene - OMIM - HGNC]
  • KIF26A-DT:KIF26A divergent transcript [Gene - HGNC]
  • LBHD2:LBH domain containing 2 [Gene - HGNC]
  • LOC126862062:MED14-independent group 3 enhancer GRCh37_chr14:102745661-102746860 [Gene]
  • LOC126862063:MED14-independent group 3 enhancer GRCh37_chr14:103174038-103175237 [Gene]
  • LOC126862064:MED14-independent group 3 enhancer GRCh37_chr14:103188411-103189610 [Gene]
  • LOC126862067:MED14-independent group 3 enhancer GRCh37_chr14:103709896-103711095 [Gene]
  • LOC126862068:MED14-independent group 3 enhancer GRCh37_chr14:103827642-103828841 [Gene]
  • MOK:MOK protein kinase [Gene - OMIM - HGNC]
  • LOC129390670:MPRA-validated peak2254 silencer [Gene]
  • LOC129390671:MPRA-validated peak2255 silencer [Gene]
  • LOC129390672:MPRA-validated peak2256 silencer [Gene]
  • LOC129390673:MPRA-validated peak2258 silencer [Gene]
  • LOC129390674:MPRA-validated peak2261 silencer [Gene]
  • MTA1-DT:MTA1 divergent transcript [Gene - HGNC]
  • LOC132090210:Neanderthal introgressed variant-containing enhancer experimental_33759 [Gene]
  • LOC132090878:Neanderthal introgressed variant-containing enhancer experimental_33767 [Gene]
  • LOC126862071:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:106445918-106447117 [Gene]
  • PPP1R13B-DT:PPP1R13B divergent transcript [Gene - OMIM - HGNC]
  • RD3L:RD3 like [Gene - HGNC]
  • RCOR1:REST corepressor 1 [Gene - OMIM - HGNC]
  • SIVA1:SIVA1 apoptosis inducing factor [Gene - OMIM - HGNC]
  • LOC121838601:Sharpr-MPRA regulatory region 1324 [Gene]
  • LOC125078042:Sharpr-MPRA regulatory region 14595 [Gene]
  • LOC121529659:Sharpr-MPRA regulatory region 15301 [Gene]
  • LOC121529660:Sharpr-MPRA regulatory region 3976 [Gene]
  • LOC112163685:Sharpr-MPRA regulatory region 5751 [Gene]
  • LOC121838600:Sharpr-MPRA regulatory region 6354 [Gene]
  • LOC121838602:Sharpr-MPRA regulatory region 8463 [Gene]
  • LOC125078043:Sharpr-MPRA regulatory region 8941 [Gene]
  • LOC112163684:Sharpr-MPRA regulatory region 9453 [Gene]
  • LOC125078045:Sharpr-MPRA regulatory region 9919 [Gene]
  • TNFAIP2:TNF alpha induced protein 2 [Gene - OMIM - HGNC]
  • TRAF3:TNF receptor associated factor 3 [Gene - OMIM - HGNC]
  • VESTAR:VEGFC mRNA stability associated lncRNA [Gene - HGNC]
  • XRCC3:X-ray repair cross complementing 3 [Gene - OMIM - HGNC]
  • ADSS1:adenylosuccinate synthase 1 [Gene - OMIM - HGNC]
  • AMN:amnion associated transmembrane protein [Gene - OMIM - HGNC]
  • ANKRD9:ankyrin repeat domain 9 [Gene - OMIM - HGNC]
  • ASPG:asparaginase [Gene - OMIM - HGNC]
  • CDCA4:cell division cycle associated 4 [Gene - OMIM - HGNC]
  • CEP170B:centrosomal protein 170B [Gene - OMIM - HGNC]
  • C14orf180:chromosome 14 open reading frame 180 [Gene - OMIM - HGNC]
  • CLBA1:clathrin binding box of aftiphilin containing 1 [Gene - HGNC]
  • CKB:creatine kinase B [Gene - OMIM - HGNC]
  • CINP:cyclin dependent kinase 2 interacting protein [Gene - OMIM - HGNC]
  • CRIP1:cysteine rich protein 1 [Gene - OMIM - HGNC]
  • CRIP2:cysteine rich protein 2 [Gene - OMIM - HGNC]
  • COA8:cytochrome c oxidase assembly factor 8 [Gene - OMIM - HGNC]
  • EIF5:eukaryotic translation initiation factor 5 [Gene - OMIM - HGNC]
  • EXOC3L4:exocyst complex component 3 like 4 [Gene - HGNC]
  • FAM30A:family with sequence similarity 30 member A [Gene - OMIM - HGNC]
  • IGHA1:immunoglobulin heavy constant alpha 1 [Gene - OMIM - HGNC]
  • IGHA2:immunoglobulin heavy constant alpha 2 (A2m marker) [Gene - OMIM - HGNC]
  • IGHD:immunoglobulin heavy constant delta [Gene - OMIM - HGNC]
  • IGHE:immunoglobulin heavy constant epsilon [Gene - OMIM - HGNC]
  • IGHG1:immunoglobulin heavy constant gamma 1 (G1m marker) [Gene - OMIM - HGNC]
  • IGHG2:immunoglobulin heavy constant gamma 2 (G2m marker) [Gene - OMIM - HGNC]
  • IGHG3:immunoglobulin heavy constant gamma 3 (G3m marker) [Gene - OMIM - HGNC]
  • IGHG4:immunoglobulin heavy constant gamma 4 (G4m marker) [Gene - OMIM - HGNC]
  • IGHM:immunoglobulin heavy constant mu [Gene - OMIM - HGNC]
  • IGHD1-14:immunoglobulin heavy diversity 1-14 (non-functional) [Gene - HGNC]
  • IGHD1-1:immunoglobulin heavy diversity 1-1 [Gene - HGNC]
  • IGHD1-20:immunoglobulin heavy diversity 1-20 [Gene - HGNC]
  • IGHD1-26:immunoglobulin heavy diversity 1-26 [Gene - HGNC]
  • IGHD1-7:immunoglobulin heavy diversity 1-7 [Gene - HGNC]
  • IGHD2-15:immunoglobulin heavy diversity 2-15 [Gene - HGNC]
  • IGHD2-21:immunoglobulin heavy diversity 2-21 [Gene - HGNC]
  • IGHD2-2:immunoglobulin heavy diversity 2-2 [Gene - HGNC]
  • IGHD2-8:immunoglobulin heavy diversity 2-8 [Gene - HGNC]
  • IGHD3-10:immunoglobulin heavy diversity 3-10 [Gene - HGNC]
  • IGHD3-16:immunoglobulin heavy diversity 3-16 [Gene - HGNC]
  • IGHD3-22:immunoglobulin heavy diversity 3-22 [Gene - HGNC]
  • IGHD3-3:immunoglobulin heavy diversity 3-3 [Gene - OMIM - HGNC]
  • IGHD3-9:immunoglobulin heavy diversity 3-9 [Gene - HGNC]
  • IGHD4-11:immunoglobulin heavy diversity 4-11 (non-functional) [Gene - HGNC]
  • IGHD4-17:immunoglobulin heavy diversity 4-17 [Gene - HGNC]
  • IGHD4-23:immunoglobulin heavy diversity 4-23 (non-functional) [Gene - HGNC]
  • IGHD4-4:immunoglobulin heavy diversity 4-4 [Gene - HGNC]
  • IGHD5-12:immunoglobulin heavy diversity 5-12 [Gene - HGNC]
  • IGHD5-18:immunoglobulin heavy diversity 5-18 [Gene - HGNC]
  • IGHD5-24:immunoglobulin heavy diversity 5-24 (non-functional) [Gene - HGNC]
  • IGHD5-5:immunoglobulin heavy diversity 5-5 [Gene - HGNC]
  • IGHD6-13:immunoglobulin heavy diversity 6-13 [Gene - HGNC]
  • IGHD6-19:immunoglobulin heavy diversity 6-19 [Gene - HGNC]
  • IGHD6-25:immunoglobulin heavy diversity 6-25 [Gene - HGNC]
  • IGHD6-6:immunoglobulin heavy diversity 6-6 [Gene - HGNC]
  • IGHD7-27:immunoglobulin heavy diversity 7-27 [Gene - HGNC]
  • IGHJ1:immunoglobulin heavy joining 1 [Gene - HGNC]
  • IGHJ2:immunoglobulin heavy joining 2 [Gene - HGNC]
  • IGHJ3:immunoglobulin heavy joining 3 [Gene - HGNC]
  • IGHJ4:immunoglobulin heavy joining 4 [Gene - HGNC]
  • IGHJ5:immunoglobulin heavy joining 5 [Gene - HGNC]
  • IGHJ6:immunoglobulin heavy joining 6 [Gene - HGNC]
  • IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
  • IGHV1-18:immunoglobulin heavy variable 1-18 [Gene - HGNC]
  • IGHV1-24:immunoglobulin heavy variable 1-24 [Gene - HGNC]
  • IGHV1-2:immunoglobulin heavy variable 1-2 [Gene - HGNC]
  • IGHV1-3:immunoglobulin heavy variable 1-3 [Gene - HGNC]
  • IGHV1-45:immunoglobulin heavy variable 1-45 [Gene - HGNC]
  • IGHV1-46:immunoglobulin heavy variable 1-46 [Gene - HGNC]
  • IGHV1-58:immunoglobulin heavy variable 1-58 [Gene - HGNC]
  • IGHV1-69-2:immunoglobulin heavy variable 1-69-2 [Gene - HGNC]
  • IGHV1-69:immunoglobulin heavy variable 1-69 [Gene - HGNC]
  • IGHV1-69D:immunoglobulin heavy variable 1-69D [Gene - HGNC]
  • IGHV2-26:immunoglobulin heavy variable 2-26 [Gene - HGNC]
  • IGHV2-5:immunoglobulin heavy variable 2-5 [Gene - HGNC]
  • IGHV2-70:immunoglobulin heavy variable 2-70 [Gene - HGNC]
  • IGHV2-70D:immunoglobulin heavy variable 2-70D [Gene - HGNC]
  • IGHV3-11:immunoglobulin heavy variable 3-11 [Gene - HGNC]
  • IGHV3-13:immunoglobulin heavy variable 3-13 [Gene - HGNC]
  • IGHV3-15:immunoglobulin heavy variable 3-15 [Gene - HGNC]
  • IGHV3-16:immunoglobulin heavy variable 3-16 (non-functional) [Gene - HGNC]
  • IGHV3-20:immunoglobulin heavy variable 3-20 [Gene - HGNC]
  • IGHV3-21:immunoglobulin heavy variable 3-21 [Gene - HGNC]
  • IGHV3-23:immunoglobulin heavy variable 3-23 [Gene - OMIM - HGNC]
  • IGHV3-30:immunoglobulin heavy variable 3-30 [Gene - HGNC]
  • IGHV3-33:immunoglobulin heavy variable 3-33 [Gene - HGNC]
  • IGHV3-35:immunoglobulin heavy variable 3-35 (non-functional) [Gene - HGNC]
  • IGHV3-38:immunoglobulin heavy variable 3-38 (non-functional) [Gene - HGNC]
  • IGHV3-43:immunoglobulin heavy variable 3-43 [Gene - HGNC]
  • IGHV3-48:immunoglobulin heavy variable 3-48 [Gene - HGNC]
  • IGHV3-49:immunoglobulin heavy variable 3-49 [Gene - HGNC]
  • IGHV3-53:immunoglobulin heavy variable 3-53 [Gene - HGNC]
  • IGHV3-64:immunoglobulin heavy variable 3-64 [Gene - HGNC]
  • IGHV3-64D:immunoglobulin heavy variable 3-64D [Gene - HGNC]
  • IGHV3-66:immunoglobulin heavy variable 3-66 [Gene - HGNC]
  • IGHV3-72:immunoglobulin heavy variable 3-72 [Gene - HGNC]
  • IGHV3-73:immunoglobulin heavy variable 3-73 [Gene - HGNC]
  • IGHV3-74:immunoglobulin heavy variable 3-74 [Gene - HGNC]
  • IGHV3-7:immunoglobulin heavy variable 3-7 [Gene - HGNC]
  • IGHV4-28:immunoglobulin heavy variable 4-28 [Gene - HGNC]
  • IGHV4-30-2:immunoglobulin heavy variable 4-30-2 [Gene - HGNC]
  • IGHV4-31:immunoglobulin heavy variable 4-31 [Gene - HGNC]
  • IGHV4-34:immunoglobulin heavy variable 4-34 [Gene - HGNC]
  • IGHV4-39:immunoglobulin heavy variable 4-39 [Gene - HGNC]
  • IGHV4-4:immunoglobulin heavy variable 4-4 [Gene - HGNC]
  • IGHV4-59:immunoglobulin heavy variable 4-59 [Gene - HGNC]
  • IGHV4-61:immunoglobulin heavy variable 4-61 [Gene - HGNC]
  • IGHV5-10-1:immunoglobulin heavy variable 5-10-1 [Gene - HGNC]
  • IGHV5-51:immunoglobulin heavy variable 5-51 [Gene - HGNC]
  • IGHV6-1:immunoglobulin heavy variable 6-1 [Gene - HGNC]
  • IGHV7-4-1:immunoglobulin heavy variable 7-4-1 [Gene - HGNC]
  • IGHV7-81:immunoglobulin heavy variable 7-81 (non-functional) [Gene - HGNC]
  • INF2:inverted formin 2 [Gene - OMIM - HGNC]
  • JAG2:jagged canonical Notch ligand 2 [Gene - OMIM - HGNC]
  • KIF26A:kinesin family member 26A [Gene - OMIM - HGNC]
  • KLC1:kinesin light chain 1 [Gene - OMIM - HGNC]
  • LINC00221:long intergenic non-protein coding RNA 221 [Gene - HGNC]
  • LINC00226:long intergenic non-protein coding RNA 226 [Gene - HGNC]
  • LINC02280:long intergenic non-protein coding RNA 2280 [Gene - HGNC]
  • LINC02298:long intergenic non-protein coding RNA 2298 [Gene - HGNC]
  • LINC02323:long intergenic non-protein coding RNA 2323 [Gene - HGNC]
  • LINC02691:long intergenic non-protein coding RNA 2691 [Gene - HGNC]
  • LINC00605:long intergenic non-protein coding RNA 605 [Gene - HGNC]
  • LINC00677:long intergenic non-protein coding RNA 677 [Gene - HGNC]
  • MTA1:metastasis associated 1 [Gene - OMIM - HGNC]
  • MIR12121:microRNA 12121 [Gene - HGNC]
  • MIR203A:microRNA 203a [Gene - OMIM - HGNC]
  • MIR203B:microRNA 203b [Gene - HGNC]
  • MIR4309:microRNA 4309 [Gene - HGNC]
  • MIR4507:microRNA 4507 [Gene - HGNC]
  • MIR4537:microRNA 4537 [Gene - HGNC]
  • MIR4538:microRNA 4538 [Gene - HGNC]
  • MIR4539:microRNA 4539 [Gene - HGNC]
  • MIR4710:microRNA 4710 [Gene - HGNC]
  • MIR5195:microRNA 5195 [Gene - HGNC]
  • MIR6765:microRNA 6765 [Gene - HGNC]
  • MIR8071-1:microRNA 8071-1 [Gene - HGNC]
  • MIR8071-2:microRNA 8071-2 [Gene - HGNC]
  • MARK3:microtubule affinity regulating kinase 3 [Gene - OMIM - HGNC]
  • NUDT14:nudix hydrolase 14 [Gene - OMIM - HGNC]
  • PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
  • PLD4:phospholipase D family member 4 [Gene - OMIM - HGNC]
  • PPP1R13B:protein phosphatase 1 regulatory subunit 13B [Gene - OMIM - HGNC]
  • LOC111721711:skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region [Gene]
  • SNORA28:small nucleolar RNA, H/ACA box 28 [Gene - HGNC]
  • TRMT61A:tRNA methyltransferase 61A [Gene - OMIM - HGNC]
  • TRI-AAT5-4:tRNA-Ile (anticodon AAT) 5-4 [Gene - HGNC]
  • TECPR2:tectonin beta-propeller repeat containing 2 [Gene - OMIM - HGNC]
  • TEX22:testis expressed 22 [Gene - HGNC]
  • TMEM121:transmembrane protein 121 [Gene - HGNC]
  • TMEM179:transmembrane protein 179 [Gene - HGNC]
  • TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]
  • TDRD9:tudor domain containing 9 [Gene - OMIM - HGNC]
  • LOC105370689:uncharacterized LOC105370689 [Gene]
  • LOC105370697:uncharacterized LOC105370697 [Gene]
  • LOC105378183:uncharacterized LOC105378183 [Gene]
  • ZFYVE21:zinc finger FYVE-type containing 21 [Gene - OMIM - HGNC]
  • ZBTB42:zinc finger and BTB domain containing 42 [Gene - OMIM - HGNC]
  • ZNF839:zinc finger protein 839 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
14q32.31-32.33
Genomic location:
Chr14: 102263440 - 106874929 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1
HGVS:

    Condition(s)

    Name:
    Neurodevelopmental disorder
    Identifiers:
    MONDO: MONDO:0700092; MeSH: D065886; MedGen: C1535926

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034258Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Aug 24, 2023)     		de novoresearch

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV004034258.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (1)

    Description

    A confirmed de novo heterozygous deletion of 14q32 encompassing 53 genes (https://genescout.omim.org/) was identified by exome sequencing in one individual with partial agenesis of corpus callosum ([GRCh38] chr14:102263440_106874929x1). These breakpoints have been estimated by exome sequencing only and therefore may not reflect the true breakpoints. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. More than two HI predictors suggest that at least 5 genes (CDC42BPB, RCOR1, TRAF3, PPP1R13B, EIF5) included in this deletion are haploinsufficient (https://www.deciphergenomics.org/). In summary, the 14q32 deletion meets criteria to be classified as pathogenic. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 0.15 points, 3: 0.90 points, 4-5: 0.15 points; Total: 1.20 points; Riggs 2020 (PMID: 31690835).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Sep 1, 2024