U.S. flag

An official website of the United States government

GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 2011
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:
RCV000136967.5

Allele description [Variation Report for GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3]

GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3

Genes:
  • HTR2B:5-hydroxytryptamine receptor 2B [Gene - OMIM - HGNC]
  • ARL4C:ADP ribosylation factor like GTPase 4C [Gene - OMIM - HGNC]
  • LOC129935741:ATAC-STARR-seq lymphoblastoid active region 17204 [Gene]
  • LOC129935742:ATAC-STARR-seq lymphoblastoid active region 17205 [Gene]
  • LOC129935743:ATAC-STARR-seq lymphoblastoid active region 17206 [Gene]
  • LOC129935744:ATAC-STARR-seq lymphoblastoid active region 17207 [Gene]
  • LOC129935745:ATAC-STARR-seq lymphoblastoid active region 17208 [Gene]
  • LOC129935747:ATAC-STARR-seq lymphoblastoid active region 17209 [Gene]
  • LOC129935748:ATAC-STARR-seq lymphoblastoid active region 17210 [Gene]
  • LOC129935749:ATAC-STARR-seq lymphoblastoid active region 17212 [Gene]
  • LOC129935750:ATAC-STARR-seq lymphoblastoid active region 17213 [Gene]
  • LOC129935751:ATAC-STARR-seq lymphoblastoid active region 17214 [Gene]
  • LOC129935752:ATAC-STARR-seq lymphoblastoid active region 17215 [Gene]
  • LOC129935753:ATAC-STARR-seq lymphoblastoid active region 17216 [Gene]
  • LOC129935756:ATAC-STARR-seq lymphoblastoid active region 17217 [Gene]
  • LOC129935757:ATAC-STARR-seq lymphoblastoid active region 17218 [Gene]
  • LOC129935758:ATAC-STARR-seq lymphoblastoid active region 17219 [Gene]
  • LOC129935759:ATAC-STARR-seq lymphoblastoid active region 17220 [Gene]
  • LOC129935761:ATAC-STARR-seq lymphoblastoid active region 17221 [Gene]
  • LOC129935762:ATAC-STARR-seq lymphoblastoid active region 17222 [Gene]
  • LOC129935763:ATAC-STARR-seq lymphoblastoid active region 17223 [Gene]
  • LOC129935764:ATAC-STARR-seq lymphoblastoid active region 17224 [Gene]
  • LOC129935765:ATAC-STARR-seq lymphoblastoid active region 17225 [Gene]
  • LOC129935766:ATAC-STARR-seq lymphoblastoid active region 17226 [Gene]
  • LOC129935767:ATAC-STARR-seq lymphoblastoid active region 17227 [Gene]
  • LOC129935768:ATAC-STARR-seq lymphoblastoid active region 17228 [Gene]
  • LOC129935769:ATAC-STARR-seq lymphoblastoid active region 17229 [Gene]
  • LOC129935770:ATAC-STARR-seq lymphoblastoid active region 17230 [Gene]
  • LOC129935771:ATAC-STARR-seq lymphoblastoid active region 17231 [Gene]
  • LOC129935772:ATAC-STARR-seq lymphoblastoid active region 17232 [Gene]
  • LOC129935773:ATAC-STARR-seq lymphoblastoid active region 17233 [Gene]
  • LOC129935775:ATAC-STARR-seq lymphoblastoid active region 17234 [Gene]
  • LOC129935776:ATAC-STARR-seq lymphoblastoid active region 17235 [Gene]
  • LOC129935777:ATAC-STARR-seq lymphoblastoid active region 17236 [Gene]
  • LOC129935778:ATAC-STARR-seq lymphoblastoid active region 17240 [Gene]
  • LOC129935779:ATAC-STARR-seq lymphoblastoid active region 17241 [Gene]
  • LOC129935780:ATAC-STARR-seq lymphoblastoid active region 17242 [Gene]
  • LOC129935781:ATAC-STARR-seq lymphoblastoid active region 17243 [Gene]
  • LOC129935782:ATAC-STARR-seq lymphoblastoid active region 17244 [Gene]
  • LOC129935783:ATAC-STARR-seq lymphoblastoid active region 17245 [Gene]
  • LOC129935784:ATAC-STARR-seq lymphoblastoid active region 17246 [Gene]
  • LOC129935785:ATAC-STARR-seq lymphoblastoid active region 17247 [Gene]
  • LOC129935787:ATAC-STARR-seq lymphoblastoid active region 17248 [Gene]
  • LOC129935788:ATAC-STARR-seq lymphoblastoid active region 17249 [Gene]
  • LOC129935790:ATAC-STARR-seq lymphoblastoid active region 17250 [Gene]
  • LOC129935791:ATAC-STARR-seq lymphoblastoid active region 17251 [Gene]
  • LOC129935793:ATAC-STARR-seq lymphoblastoid active region 17253 [Gene]
  • LOC129935796:ATAC-STARR-seq lymphoblastoid active region 17259 [Gene]
  • LOC129935799:ATAC-STARR-seq lymphoblastoid active region 17260 [Gene]
  • LOC129935800:ATAC-STARR-seq lymphoblastoid active region 17261 [Gene]
  • LOC129935801:ATAC-STARR-seq lymphoblastoid active region 17262 [Gene]
  • LOC129935802:ATAC-STARR-seq lymphoblastoid active region 17263 [Gene]
  • LOC129935803:ATAC-STARR-seq lymphoblastoid active region 17264 [Gene]
  • LOC129935804:ATAC-STARR-seq lymphoblastoid active region 17265 [Gene]
  • LOC129935805:ATAC-STARR-seq lymphoblastoid active region 17266 [Gene]
  • LOC129935806:ATAC-STARR-seq lymphoblastoid active region 17267 [Gene]
  • LOC129935808:ATAC-STARR-seq lymphoblastoid active region 17268 [Gene]
  • LOC129935809:ATAC-STARR-seq lymphoblastoid active region 17269 [Gene]
  • LOC129935810:ATAC-STARR-seq lymphoblastoid active region 17270 [Gene]
  • LOC129935811:ATAC-STARR-seq lymphoblastoid active region 17271 [Gene]
  • LOC129935812:ATAC-STARR-seq lymphoblastoid active region 17272 [Gene]
  • LOC129935813:ATAC-STARR-seq lymphoblastoid active region 17273 [Gene]
  • LOC129935814:ATAC-STARR-seq lymphoblastoid active region 17274 [Gene]
  • LOC129935816:ATAC-STARR-seq lymphoblastoid active region 17275 [Gene]
  • LOC129935817:ATAC-STARR-seq lymphoblastoid active region 17276 [Gene]
  • LOC129935819:ATAC-STARR-seq lymphoblastoid active region 17278 [Gene]
  • LOC129935820:ATAC-STARR-seq lymphoblastoid active region 17279 [Gene]
  • LOC129935821:ATAC-STARR-seq lymphoblastoid active region 17280 [Gene]
  • LOC129935822:ATAC-STARR-seq lymphoblastoid active region 17281 [Gene]
  • LOC129935823:ATAC-STARR-seq lymphoblastoid active region 17282 [Gene]
  • LOC129935826:ATAC-STARR-seq lymphoblastoid active region 17284 [Gene]
  • LOC129935827:ATAC-STARR-seq lymphoblastoid active region 17287 [Gene]
  • LOC129935828:ATAC-STARR-seq lymphoblastoid active region 17288 [Gene]
  • LOC129935830:ATAC-STARR-seq lymphoblastoid active region 17289 [Gene]
  • LOC129935832:ATAC-STARR-seq lymphoblastoid active region 17291 [Gene]
  • LOC129935833:ATAC-STARR-seq lymphoblastoid active region 17292 [Gene]
  • LOC129935834:ATAC-STARR-seq lymphoblastoid active region 17293 [Gene]
  • LOC129935837:ATAC-STARR-seq lymphoblastoid active region 17298 [Gene]
  • LOC129935838:ATAC-STARR-seq lymphoblastoid active region 17299 [Gene]
  • LOC129935839:ATAC-STARR-seq lymphoblastoid active region 17300 [Gene]
  • LOC129935842:ATAC-STARR-seq lymphoblastoid active region 17310 [Gene]
  • LOC129935843:ATAC-STARR-seq lymphoblastoid active region 17313 [Gene]
  • LOC129935844:ATAC-STARR-seq lymphoblastoid active region 17315 [Gene]
  • LOC129935846:ATAC-STARR-seq lymphoblastoid active region 17317 [Gene]
  • LOC129935854:ATAC-STARR-seq lymphoblastoid active region 17318 [Gene]
  • LOC129935859:ATAC-STARR-seq lymphoblastoid active region 17319 [Gene]
  • LOC129935860:ATAC-STARR-seq lymphoblastoid active region 17320 [Gene]
  • LOC129935861:ATAC-STARR-seq lymphoblastoid active region 17321 [Gene]
  • LOC129935862:ATAC-STARR-seq lymphoblastoid active region 17322 [Gene]
  • LOC129935864:ATAC-STARR-seq lymphoblastoid active region 17323 [Gene]
  • LOC129935866:ATAC-STARR-seq lymphoblastoid active region 17324 [Gene]
  • LOC129935867:ATAC-STARR-seq lymphoblastoid active region 17325 [Gene]
  • LOC129935870:ATAC-STARR-seq lymphoblastoid active region 17326 [Gene]
  • LOC129935871:ATAC-STARR-seq lymphoblastoid active region 17327 [Gene]
  • LOC129935873:ATAC-STARR-seq lymphoblastoid active region 17328 [Gene]
  • LOC129935875:ATAC-STARR-seq lymphoblastoid active region 17329 [Gene]
  • LOC129935876:ATAC-STARR-seq lymphoblastoid active region 17330 [Gene]
  • LOC129935878:ATAC-STARR-seq lymphoblastoid active region 17331 [Gene]
  • LOC129935879:ATAC-STARR-seq lymphoblastoid active region 17332 [Gene]
  • LOC129935880:ATAC-STARR-seq lymphoblastoid active region 17333 [Gene]
  • LOC129935881:ATAC-STARR-seq lymphoblastoid active region 17334 [Gene]
  • LOC129935882:ATAC-STARR-seq lymphoblastoid active region 17335 [Gene]
  • LOC129935883:ATAC-STARR-seq lymphoblastoid active region 17336 [Gene]
  • LOC129935884:ATAC-STARR-seq lymphoblastoid active region 17337 [Gene]
  • LOC129935886:ATAC-STARR-seq lymphoblastoid active region 17338 [Gene]
  • LOC129935887:ATAC-STARR-seq lymphoblastoid active region 17339 [Gene]
  • LOC129935888:ATAC-STARR-seq lymphoblastoid active region 17340 [Gene]
  • LOC129935889:ATAC-STARR-seq lymphoblastoid active region 17341 [Gene]
  • LOC129935891:ATAC-STARR-seq lymphoblastoid active region 17342 [Gene]
  • LOC129935892:ATAC-STARR-seq lymphoblastoid active region 17343 [Gene]
  • LOC129935893:ATAC-STARR-seq lymphoblastoid active region 17344 [Gene]
  • LOC129935894:ATAC-STARR-seq lymphoblastoid active region 17345 [Gene]
  • LOC129935895:ATAC-STARR-seq lymphoblastoid active region 17346 [Gene]
  • LOC129935897:ATAC-STARR-seq lymphoblastoid active region 17347 [Gene]
  • LOC129935898:ATAC-STARR-seq lymphoblastoid active region 17348 [Gene]
  • LOC129935899:ATAC-STARR-seq lymphoblastoid active region 17349 [Gene]
  • LOC129935900:ATAC-STARR-seq lymphoblastoid active region 17350 [Gene]
  • LOC129935901:ATAC-STARR-seq lymphoblastoid active region 17351 [Gene]
  • LOC129935902:ATAC-STARR-seq lymphoblastoid active region 17352 [Gene]
  • LOC129935903:ATAC-STARR-seq lymphoblastoid active region 17353 [Gene]
  • LOC129935904:ATAC-STARR-seq lymphoblastoid active region 17354 [Gene]
  • LOC129935746:ATAC-STARR-seq lymphoblastoid silent region 12407 [Gene]
  • LOC129935754:ATAC-STARR-seq lymphoblastoid silent region 12408 [Gene]
  • LOC129935755:ATAC-STARR-seq lymphoblastoid silent region 12409 [Gene]
  • LOC129935760:ATAC-STARR-seq lymphoblastoid silent region 12410 [Gene]
  • LOC129935774:ATAC-STARR-seq lymphoblastoid silent region 12411 [Gene]
  • LOC129935786:ATAC-STARR-seq lymphoblastoid silent region 12412 [Gene]
  • LOC129935789:ATAC-STARR-seq lymphoblastoid silent region 12413 [Gene]
  • LOC129935792:ATAC-STARR-seq lymphoblastoid silent region 12417 [Gene]
  • LOC129935794:ATAC-STARR-seq lymphoblastoid silent region 12418 [Gene]
  • LOC129935795:ATAC-STARR-seq lymphoblastoid silent region 12419 [Gene]
  • LOC129935797:ATAC-STARR-seq lymphoblastoid silent region 12420 [Gene]
  • LOC129935798:ATAC-STARR-seq lymphoblastoid silent region 12421 [Gene]
  • LOC129935807:ATAC-STARR-seq lymphoblastoid silent region 12422 [Gene]
  • LOC129935815:ATAC-STARR-seq lymphoblastoid silent region 12423 [Gene]
  • LOC129935818:ATAC-STARR-seq lymphoblastoid silent region 12424 [Gene]
  • LOC129935824:ATAC-STARR-seq lymphoblastoid silent region 12425 [Gene]
  • LOC129935825:ATAC-STARR-seq lymphoblastoid silent region 12426 [Gene]
  • LOC129935829:ATAC-STARR-seq lymphoblastoid silent region 12428 [Gene]
  • LOC129935831:ATAC-STARR-seq lymphoblastoid silent region 12430 [Gene]
  • LOC129935835:ATAC-STARR-seq lymphoblastoid silent region 12432 [Gene]
  • LOC129935836:ATAC-STARR-seq lymphoblastoid silent region 12433 [Gene]
  • LOC129935840:ATAC-STARR-seq lymphoblastoid silent region 12435 [Gene]
  • LOC129935841:ATAC-STARR-seq lymphoblastoid silent region 12439 [Gene]
  • LOC129935845:ATAC-STARR-seq lymphoblastoid silent region 12446 [Gene]
  • LOC129935847:ATAC-STARR-seq lymphoblastoid silent region 12447 [Gene]
  • LOC129935848:ATAC-STARR-seq lymphoblastoid silent region 12448 [Gene]
  • LOC129935849:ATAC-STARR-seq lymphoblastoid silent region 12449 [Gene]
  • LOC129935850:ATAC-STARR-seq lymphoblastoid silent region 12450 [Gene]
  • LOC129935851:ATAC-STARR-seq lymphoblastoid silent region 12451 [Gene]
  • LOC129935852:ATAC-STARR-seq lymphoblastoid silent region 12452 [Gene]
  • LOC129935853:ATAC-STARR-seq lymphoblastoid silent region 12453 [Gene]
  • LOC129935855:ATAC-STARR-seq lymphoblastoid silent region 12454 [Gene]
  • LOC129935856:ATAC-STARR-seq lymphoblastoid silent region 12455 [Gene]
  • LOC129935857:ATAC-STARR-seq lymphoblastoid silent region 12456 [Gene]
  • LOC129935858:ATAC-STARR-seq lymphoblastoid silent region 12457 [Gene]
  • LOC129935863:ATAC-STARR-seq lymphoblastoid silent region 12459 [Gene]
  • LOC129935865:ATAC-STARR-seq lymphoblastoid silent region 12460 [Gene]
  • LOC129935868:ATAC-STARR-seq lymphoblastoid silent region 12461 [Gene]
  • LOC129935869:ATAC-STARR-seq lymphoblastoid silent region 12464 [Gene]
  • LOC129935872:ATAC-STARR-seq lymphoblastoid silent region 12465 [Gene]
  • LOC129935874:ATAC-STARR-seq lymphoblastoid silent region 12466 [Gene]
  • LOC129935877:ATAC-STARR-seq lymphoblastoid silent region 12468 [Gene]
  • LOC129935885:ATAC-STARR-seq lymphoblastoid silent region 12469 [Gene]
  • LOC129935890:ATAC-STARR-seq lymphoblastoid silent region 12470 [Gene]
  • LOC129935896:ATAC-STARR-seq lymphoblastoid silent region 12471 [Gene]
  • LOC129935905:ATAC-STARR-seq lymphoblastoid silent region 12473 [Gene]
  • LOC129935906:ATAC-STARR-seq lymphoblastoid silent region 12474 [Gene]
  • LOC126806545:BRD4-independent group 4 enhancer GRCh37_chr2:229685881-229687080 [Gene]
  • LOC108353815:BRD4-independent group 4 enhancer GRCh37_chr2:230271779-230272978 [Gene]
  • LOC126806546:BRD4-independent group 4 enhancer GRCh37_chr2:230910722-230911921 [Gene]
  • LOC126806550:BRD4-independent group 4 enhancer GRCh37_chr2:232046423-232047622 [Gene]
  • LOC126806552:BRD4-independent group 4 enhancer GRCh37_chr2:233271618-233272817 [Gene]
  • LOC126806553:BRD4-independent group 4 enhancer GRCh37_chr2:233432608-233433807 [Gene]
  • LOC126806556:BRD4-independent group 4 enhancer GRCh37_chr2:235072133-235073332 [Gene]
  • LOC126806559:BRD4-independent group 4 enhancer GRCh37_chr2:235531433-235532632 [Gene]
  • LOC126806547:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:231176974-231178173 [Gene]
  • LOC126806549:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:231773167-231774366 [Gene]
  • LOC126806551:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:232261821-232263020 [Gene]
  • LOC121009631:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:234882993-234884192 [Gene]
  • LOC126806557:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:235271392-235272591 [Gene]
  • LOC126806560:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:235602982-235604181 [Gene]
  • LOC126806561:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:235673486-235674685 [Gene]
  • LOC126806562:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:235742667-235743866 [Gene]
  • COPS7B:COP9 signalosome subunit 7B [Gene - OMIM - HGNC]
  • LOC115947634:CRISPRi-validated cis-regulatory element chr2.6880 [Gene]
  • LOC115947635:CRISPRi-validated cis-regulatory element chr2.7113 [Gene]
  • DIS3L2:DIS3 like 3'-5' exoribonuclease 2 [Gene - OMIM - HGNC]
  • DNAJB3:DnaJ heat shock protein family (Hsp40) member B3 [Gene - HGNC]
  • EFHD1:EF-hand domain family member D1 [Gene - OMIM - HGNC]
  • FBXO36:F-box protein 36 [Gene - OMIM - HGNC]
  • GPR55:G protein-coupled receptor 55 [Gene - OMIM - HGNC]
  • GCSIR:GPR55 cis regulatory suppressor of immune response RNA [Gene - HGNC]
  • GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]
  • HJURP:Holliday junction recognition protein [Gene - OMIM - HGNC]
  • LOC126806542:MED14-independent group 3 enhancer GRCh37_chr2:229290319-229291518 [Gene]
  • LOC126806543:MED14-independent group 3 enhancer GRCh37_chr2:229406198-229407397 [Gene]
  • LOC126806554:MED14-independent group 3 enhancer GRCh37_chr2:233766250-233767449 [Gene]
  • LOC112840909:MED14-independent group 3 enhancer GRCh37_chr2:234334881-234336080 [Gene]
  • LOC126806558:MED14-independent group 3 enhancer GRCh37_chr2:235336101-235337300 [Gene]
  • LOC129389004:MPRA-validated peak4073 silencer [Gene]
  • LOC129389005:MPRA-validated peak4074 silencer [Gene]
  • LOC129389006:MPRA-validated peak4075 silencer [Gene]
  • LOC129389007:MPRA-validated peak4076 silencer [Gene]
  • LOC129389008:MPRA-validated peak4079 silencer [Gene]
  • LOC129389009:MPRA-validated peak4081 silencer [Gene]
  • LOC129389010:MPRA-validated peak4085 silencer [Gene]
  • LOC129389011:MPRA-validated peak4087 silencer [Gene]
  • MSL3B:MSL complex subunit 3B [Gene - HGNC]
  • LOC132088823:Neanderthal introgressed variant-containing enhancer experimental_57077 [Gene]
  • LOC126806544:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:229477219-229478418 [Gene]
  • LOC126806548:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:231657991-231659190 [Gene]
  • LOC126806555:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:234155927-234157126 [Gene]
  • LOC108353814:PID1-DNER intergenic CAGE-defined monocyte enhancer [Gene]
  • LOC108348027:RN7SL499P-PTMA intergenic region enhancers [Gene]
  • SAG:S-antigen visual arrestin [Gene - OMIM - HGNC]
  • SH3BP4:SH3 domain binding protein 4 [Gene - OMIM - HGNC]
  • SP100:SP100 nuclear antigen [Gene - OMIM - HGNC]
  • SP110:SP110 nuclear body protein [Gene - OMIM - HGNC]
  • SP140L:SP140 nuclear body protein like [Gene - OMIM - HGNC]
  • SP140:SP140 nuclear body protein [Gene - OMIM - HGNC]
  • SPATA3-AS1:SPATA3 antisense RNA 1 (head to head) [Gene - HGNC]
  • SPHKAP:SPHK1 interactor, AKAP domain containing [Gene - OMIM - HGNC]
  • LOC122861316:Sharpr-MPRA regulatory region 10619 [Gene]
  • LOC114004369:Sharpr-MPRA regulatory region 11632 [Gene]
  • LOC121009628:Sharpr-MPRA regulatory region 12127 [Gene]
  • LOC121009630:Sharpr-MPRA regulatory region 12341 [Gene]
  • LOC121725121:Sharpr-MPRA regulatory region 12701 [Gene]
  • LOC112840908:Sharpr-MPRA regulatory region 13150 [Gene]
  • LOC121725120:Sharpr-MPRA regulatory region 14077 [Gene]
  • LOC122861309:Sharpr-MPRA regulatory region 1477 [Gene]
  • LOC122861307:Sharpr-MPRA regulatory region 14998 [Gene]
  • LOC112840910:Sharpr-MPRA regulatory region 15004 [Gene]
  • LOC121009629:Sharpr-MPRA regulatory region 2469 [Gene]
  • LOC122861318:Sharpr-MPRA regulatory region 2610 [Gene]
  • LOC121725123:Sharpr-MPRA regulatory region 275 [Gene]
  • LOC122861305:Sharpr-MPRA regulatory region 3439 [Gene]
  • LOC121725122:Sharpr-MPRA regulatory region 5541 [Gene]
  • LOC122861312:Sharpr-MPRA regulatory region 7061 [Gene]
  • LOC122861308:Sharpr-MPRA regulatory region 7070 [Gene]
  • LOC122861310:Sharpr-MPRA regulatory region 726 [Gene]
  • LOC122861315:Sharpr-MPRA regulatory region 7298 [Gene]
  • LOC122861317:Sharpr-MPRA regulatory region 7512 [Gene]
  • LOC122861311:Sharpr-MPRA regulatory region 810 [Gene]
  • LOC122861313:Sharpr-MPRA regulatory region 824 [Gene]
  • LOC122861306:Sharpr-MPRA regulatory region 9410 [Gene]
  • LOC122861314:Sharpr-MPRA regulatory region 9991 [Gene]
  • UGT1A:UDP glucuronosyltransferase family 1 member A complex locus [Gene - HGNC]
  • UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
  • UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
  • UGT1A3:UDP glucuronosyltransferase family 1 member A3 [Gene - OMIM - HGNC]
  • UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
  • UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
  • UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
  • UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
  • UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
  • UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]
  • B3GNT7:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 [Gene - OMIM - HGNC]
  • ALPG:alkaline phosphatase, germ cell [Gene - OMIM - HGNC]
  • ALPI:alkaline phosphatase, intestinal [Gene - OMIM - HGNC]
  • ALPP:alkaline phosphatase, placental [Gene - OMIM - HGNC]
  • ARMC9:armadillo repeat containing 9 [Gene - OMIM - HGNC]
  • ATG16L1:autophagy related 16 like 1 [Gene - OMIM - HGNC]
  • CAB39:calcium binding protein 39 [Gene - OMIM - HGNC]
  • CHRND:cholinergic receptor nicotinic delta subunit [Gene - OMIM - HGNC]
  • CHRNG:cholinergic receptor nicotinic gamma subunit [Gene - OMIM - HGNC]
  • C2orf72:chromosome 2 open reading frame 72 [Gene - HGNC]
  • DNER:delta/notch like EGF repeat containing [Gene - OMIM - HGNC]
  • DGKD:diacylglycerol kinase delta [Gene - OMIM - HGNC]
  • ECEL1:endothelin converting enzyme like 1 [Gene - OMIM - HGNC]
  • EIF4E2:eukaryotic translation initiation factor 4E family member 2 [Gene - OMIM - HGNC]
  • INPP5D:inositol polyphosphate-5-phosphatase D [Gene - OMIM - HGNC]
  • ITM2C:integral membrane protein 2C [Gene - OMIM - HGNC]
  • LINC01173:long intergenic non-protein coding RNA 1173 [Gene - HGNC]
  • LINC01807:long intergenic non-protein coding RNA 1807 [Gene - HGNC]
  • LINC01891:long intergenic non-protein coding RNA 1891 [Gene - HGNC]
  • LINC01907:long intergenic non-protein coding RNA 1907 [Gene - HGNC]
  • LINC00471:long intergenic non-protein coding RNA 471 [Gene - HGNC]
  • MROH2A:maestro heat like repeat family member 2A [Gene - HGNC]
  • MIR1244-1:microRNA 1244-1 [Gene - HGNC]
  • MIR1471:microRNA 1471 [Gene - HGNC]
  • MIR4777:microRNA 4777 [Gene - HGNC]
  • MIR5001:microRNA 5001 [Gene - HGNC]
  • MIR562:microRNA 562 [Gene - HGNC]
  • NPPC:natriuretic peptide C [Gene - OMIM - HGNC]
  • NEU2:neuraminidase 2 [Gene - OMIM - HGNC]
  • NMUR1:neuromedin U receptor 1 [Gene - OMIM - HGNC]
  • NGEF:neuronal guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • NCL:nucleolin [Gene - OMIM - HGNC]
  • PDE6D:phosphodiesterase 6D [Gene - OMIM - HGNC]
  • PID1:phosphotyrosine interaction domain containing 1 [Gene - OMIM - HGNC]
  • KCNJ13:potassium inwardly rectifying channel subfamily J member 13 [Gene - OMIM - HGNC]
  • PSMD1:proteasome 26S subunit, non-ATPase 1 [Gene - OMIM - HGNC]
  • PTMA:prothymosin alpha [Gene - OMIM - HGNC]
  • SNORC:secondary ossification center associated regulator of chondrocyte maturation [Gene - HGNC]
  • SPP2:secreted phosphoprotein 2 [Gene - OMIM - HGNC]
  • PRSS56:serine protease 56 [Gene - OMIM - HGNC]
  • SCARNA5:small Cajal body-specific RNA 5 [Gene - OMIM - HGNC]
  • SCARNA6:small Cajal body-specific RNA 6 [Gene - OMIM - HGNC]
  • SNORD20:small nucleolar RNA, C/D box 20 [Gene - OMIM - HGNC]
  • SNORD82:small nucleolar RNA, C/D box 82 [Gene - OMIM - HGNC]
  • SNORA75:small nucleolar RNA, H/ACA box 75 [Gene - HGNC]
  • SLC16A14:solute carrier family 16 member 14 [Gene - HGNC]
  • SPATA3:spermatogenesis associated 3 [Gene - OMIM - HGNC]
  • TEX44:testis expressed 44 [Gene - HGNC]
  • TRIP12:thyroid hormone receptor interactor 12 [Gene - OMIM - HGNC]
  • TIGD1:tigger transposable element derived 1 [Gene - OMIM - HGNC]
  • TRPM8:transient receptor potential cation channel subfamily M member 8 [Gene - OMIM - HGNC]
  • USP40:ubiquitin specific peptidase 40 [Gene - OMIM - HGNC]
  • LOC101928881:uncharacterized LOC101928881 [Gene]
  • LOC105373929:uncharacterized LOC105373929 [Gene]
Variant type:
copy number gain
Cytogenetic location:
2q36.3-37.2
Genomic location:
Preferred name:
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3
HGVS:
  • NC_000002.12:g.(?_228014149)_(234976424_?)dup
  • NC_000002.10:g.(?_228587109)_(235549807_?)dup
  • NC_000002.11:g.(?_228878865)_(235885068_?)dup
Links:
dbVar: nssv582362; dbVar: nsv534354
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177130ISCA site 2

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 16, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 2, SCV000177130.3

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

Last Updated: May 7, 2024