Annotation Detail

Information
Associated Genes
CD8B2 FHL2 IL1R1 NPAS2 POU3F3 RPL31 SLC9A2 SULT1C2 IL1R2 NCK2 IL18RAP IL1RL2 IL18R1 IL1RL1 TGFBRAP1 MAP4K4 CHST10 GCC2 TBC1D8 GPR45 SULT1C4 CNOT11 SLC5A7 MRPS9 PDCL3 C2orf49 UXS1 ECRG4 ST6GAL2 MFSD9 NMS TMEM182 LINC01102 CREG2 RNF149 LINC01114 LINC02946 RGPD4 SLC9A4 SULT1C3 RGPD3 SNORD89 RGPD4-AS1 RFX8 LOC100287010 TBC1D8-AS1 LINC01127 PANTR1 C2orf49-DT MIR4772 MIR5696 NPAS2-AS1 LINC01831 LINC01103 LOC101927383 MRPS9-AS1 LINC01159 MRPS9-AS2 LINC01594 GACAT1 LINC01849 LINC01796 LINC01935 LOC105373524 LOC105373525 LOC105373526 LINC01789 LINC01886 LINC01885 LINC01918 LINC01593 LOC107305683 LOC107305684 LOC110120670 LOC110120750 LOC110120793 LOC110120814 LOC110120821 LOC110120987 LOC110120992 LOC110121001 LOC110121005 LOC110121017 LOC110121029 LOC110121047 LOC110121130 LOC110121132 LOC110121135 LOC110121140 LOC110121141 LOC110121142 LOC110121149 LOC110121226 LOC111828510 IL1R1-AS1 LOC112695110 LOC112695111 LOC114004366 LOC114827847 LOC120961775 LOC120961776 LOC120961777 LOC120961778 LOC121725098 LOC122817716 LOC122817717 LOC122817718 LOC122817719 LOC122817720 LOC126806284 LOC126806285 LOC126806286 LOC126806287 LOC126806288 LOC126806289 LOC126806290 LOC126806291 LOC126806292 LOC126806293 LOC126806294 LOC126806295 LOC126806296 LOC126806297 LOC126806298 LOC126806299 LOC126806300 LOC126806301 LOC129388895 LOC129388896 LOC129934444 LOC129934445 LOC129934446 LOC129934447 LOC129934448 LOC129934449 LOC129934450 LOC129934451 LOC129934452 LOC129934453 LOC129934454 LOC129934455 LOC129934456 LOC129934457 LOC129934458 LOC129934459 LOC129934460 LOC129934461 LOC129934462 LOC129934463 LOC129934464 LOC129934465 LOC129934466 LOC129934467 LOC129934468 LOC129934469 LOC129934470 LOC129934471 LOC129934472 LOC129934473 LOC129934474 LOC129934475 LOC129934476 LOC129934477 LOC129934478 LOC129934479 LOC129934480 LOC129934481 LOC129934482 LOC129934483 LOC129934484 LOC129934485 LOC129934486 LOC129934487 LOC129934488 LOC129934489 LOC129934490 LOC129934491 LOC129934492 LOC129934493 LOC129934494 LOC129934495 LOC129934496 LOC129934497 LOC129934498 LOC129934499 LOC129934500 LOC129934501 LOC129934502 LOC129934503 LOC129934504 LOC129934505 LOC129934506 LOC129934507 LOC129934508 LOC129934509 LOC129934510 LOC129934511 LOC129934512 LOC129934513 LOC129934514 LOC129934515 LOC129934516 LOC129934517 LOC129934518 LOC129934519 LOC129934520 LOC132088750
Associated Variants
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3
Source Database
ClinVar
Description
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 AND See cases
ClinVar Allele ID
71778
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000050836
Observed Origin Sample
not provided
Drugs