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GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 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:
RCV000142593.6

Allele description [Variation Report for GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3]

GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3

Genes:
  • AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
  • AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • 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]
  • 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]
  • LOC126862072:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:106657005-106658204 [Gene]
  • EIF5-DT:EIF5 divergent transcript [Gene - HGNC]
  • GPR132:G protein-coupled receptor 132 [Gene - OMIM - HGNC]
  • KIF26A-DT:KIF26A divergent transcript [Gene - HGNC]
  • LOC126862068:MED14-independent group 3 enhancer GRCh37_chr14:103827642-103828841 [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]
  • SIVA1:SIVA1 apoptosis inducing factor [Gene - OMIM - HGNC]
  • LOC121529659:Sharpr-MPRA regulatory region 15301 [Gene]
  • LOC121529660:Sharpr-MPRA regulatory region 3976 [Gene]
  • LOC112163685:Sharpr-MPRA regulatory region 5751 [Gene]
  • LOC121838602:Sharpr-MPRA regulatory region 8463 [Gene]
  • LOC125078043:Sharpr-MPRA regulatory region 8941 [Gene]
  • LOC125078045:Sharpr-MPRA regulatory region 9919 [Gene]
  • 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • LINC02691:long intergenic non-protein coding RNA 2691 [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]
  • 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 - 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]
  • ZFYVE21:zinc finger FYVE-type containing 21 [Gene - OMIM - HGNC]
  • ZBTB42:zinc finger and BTB domain containing 42 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q32.32-32.33
Genomic location:
Preferred name:
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3
HGVS:
  • NC_000014.9:g.(?_103322414)_(106855263_?)dup
  • NC_000014.7:g.(?_102858504)_(106334523_?)dup
  • NC_000014.8:g.(?_103788751)_(107263478_?)dup
Links:
dbVar: nssv582775; dbVar: nsv533092
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
SCV000175817ISCA site 1

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no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		unknownclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000175817.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024