- This record was updated by the submitter. Please see the current version.
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 30, 2009
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000135438.4
Allele description
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3
- Genes:
- ADAMTS14:ADAM metallopeptidase with thrombospondin type 1 motif 14 [Gene - OMIM - HGNC]
- LOC130003932:ATAC-STARR-seq lymphoblastoid active region 3449 [Gene]
- LOC130003933:ATAC-STARR-seq lymphoblastoid active region 3450 [Gene]
- LOC130003934:ATAC-STARR-seq lymphoblastoid active region 3451 [Gene]
- LOC130003935:ATAC-STARR-seq lymphoblastoid active region 3452 [Gene]
- LOC130003936:ATAC-STARR-seq lymphoblastoid active region 3453 [Gene]
- LOC130003937:ATAC-STARR-seq lymphoblastoid active region 3454 [Gene]
- LOC130003938:ATAC-STARR-seq lymphoblastoid active region 3455 [Gene]
- LOC130003939:ATAC-STARR-seq lymphoblastoid active region 3456 [Gene]
- LOC130003940:ATAC-STARR-seq lymphoblastoid active region 3457 [Gene]
- LOC130003944:ATAC-STARR-seq lymphoblastoid active region 3460 [Gene]
- LOC130003945:ATAC-STARR-seq lymphoblastoid active region 3461 [Gene]
- LOC130003946:ATAC-STARR-seq lymphoblastoid active region 3462 [Gene]
- LOC130003947:ATAC-STARR-seq lymphoblastoid active region 3465 [Gene]
- LOC130003948:ATAC-STARR-seq lymphoblastoid active region 3466 [Gene]
- LOC130003949:ATAC-STARR-seq lymphoblastoid active region 3467 [Gene]
- LOC130003950:ATAC-STARR-seq lymphoblastoid active region 3468 [Gene]
- LOC130003955:ATAC-STARR-seq lymphoblastoid active region 3469 [Gene]
- LOC130003956:ATAC-STARR-seq lymphoblastoid active region 3470 [Gene]
- LOC130003957:ATAC-STARR-seq lymphoblastoid active region 3471 [Gene]
- LOC130003958:ATAC-STARR-seq lymphoblastoid active region 3472 [Gene]
- LOC130003959:ATAC-STARR-seq lymphoblastoid active region 3474 [Gene]
- LOC130003961:ATAC-STARR-seq lymphoblastoid active region 3475 [Gene]
- LOC130003962:ATAC-STARR-seq lymphoblastoid active region 3476 [Gene]
- LOC130003963:ATAC-STARR-seq lymphoblastoid active region 3477 [Gene]
- LOC130003964:ATAC-STARR-seq lymphoblastoid active region 3478 [Gene]
- LOC130003966:ATAC-STARR-seq lymphoblastoid active region 3479 [Gene]
- LOC130003967:ATAC-STARR-seq lymphoblastoid active region 3480 [Gene]
- LOC130003968:ATAC-STARR-seq lymphoblastoid active region 3481 [Gene]
- LOC130003969:ATAC-STARR-seq lymphoblastoid active region 3482 [Gene]
- LOC130003970:ATAC-STARR-seq lymphoblastoid active region 3483 [Gene]
- LOC130003971:ATAC-STARR-seq lymphoblastoid active region 3484 [Gene]
- LOC130003973:ATAC-STARR-seq lymphoblastoid active region 3485 [Gene]
- LOC130003975:ATAC-STARR-seq lymphoblastoid active region 3486 [Gene]
- LOC130003977:ATAC-STARR-seq lymphoblastoid active region 3487 [Gene]
- LOC130003978:ATAC-STARR-seq lymphoblastoid active region 3488 [Gene]
- LOC130003979:ATAC-STARR-seq lymphoblastoid active region 3489 [Gene]
- LOC130003981:ATAC-STARR-seq lymphoblastoid active region 3490 [Gene]
- LOC130003986:ATAC-STARR-seq lymphoblastoid active region 3492 [Gene]
- LOC130003987:ATAC-STARR-seq lymphoblastoid active region 3493 [Gene]
- LOC130003990:ATAC-STARR-seq lymphoblastoid active region 3494 [Gene]
- LOC130003993:ATAC-STARR-seq lymphoblastoid active region 3495 [Gene]
- LOC130003995:ATAC-STARR-seq lymphoblastoid active region 3496 [Gene]
- LOC130003997:ATAC-STARR-seq lymphoblastoid active region 3497 [Gene]
- LOC130003998:ATAC-STARR-seq lymphoblastoid active region 3498 [Gene]
- LOC130004000:ATAC-STARR-seq lymphoblastoid active region 3499 [Gene]
- LOC130004001:ATAC-STARR-seq lymphoblastoid active region 3500 [Gene]
- LOC130004003:ATAC-STARR-seq lymphoblastoid active region 3501 [Gene]
- LOC130004004:ATAC-STARR-seq lymphoblastoid active region 3502 [Gene]
- LOC130004006:ATAC-STARR-seq lymphoblastoid active region 3504 [Gene]
- LOC130004009:ATAC-STARR-seq lymphoblastoid active region 3505 [Gene]
- LOC130004013:ATAC-STARR-seq lymphoblastoid active region 3508 [Gene]
- LOC130004014:ATAC-STARR-seq lymphoblastoid active region 3510 [Gene]
- LOC130004015:ATAC-STARR-seq lymphoblastoid active region 3511 [Gene]
- LOC130004027:ATAC-STARR-seq lymphoblastoid active region 3513 [Gene]
- LOC130004028:ATAC-STARR-seq lymphoblastoid active region 3514 [Gene]
- LOC130004031:ATAC-STARR-seq lymphoblastoid active region 3515 [Gene]
- LOC130004032:ATAC-STARR-seq lymphoblastoid active region 3516 [Gene]
- LOC130004033:ATAC-STARR-seq lymphoblastoid active region 3517 [Gene]
- LOC130004034:ATAC-STARR-seq lymphoblastoid active region 3518 [Gene]
- LOC130004035:ATAC-STARR-seq lymphoblastoid active region 3519 [Gene]
- LOC130004036:ATAC-STARR-seq lymphoblastoid active region 3520 [Gene]
- LOC130004039:ATAC-STARR-seq lymphoblastoid active region 3524 [Gene]
- LOC130004041:ATAC-STARR-seq lymphoblastoid active region 3525 [Gene]
- LOC130004043:ATAC-STARR-seq lymphoblastoid active region 3526 [Gene]
- LOC130004044:ATAC-STARR-seq lymphoblastoid active region 3527 [Gene]
- LOC130004045:ATAC-STARR-seq lymphoblastoid active region 3529 [Gene]
- LOC130004046:ATAC-STARR-seq lymphoblastoid active region 3532 [Gene]
- LOC130004047:ATAC-STARR-seq lymphoblastoid active region 3533 [Gene]
- LOC130004048:ATAC-STARR-seq lymphoblastoid active region 3534 [Gene]
- LOC130004049:ATAC-STARR-seq lymphoblastoid active region 3535 [Gene]
- LOC130004050:ATAC-STARR-seq lymphoblastoid active region 3536 [Gene]
- LOC130004051:ATAC-STARR-seq lymphoblastoid active region 3537 [Gene]
- LOC130004053:ATAC-STARR-seq lymphoblastoid active region 3538 [Gene]
- LOC130004055:ATAC-STARR-seq lymphoblastoid active region 3540 [Gene]
- LOC130004057:ATAC-STARR-seq lymphoblastoid active region 3543 [Gene]
- LOC130004059:ATAC-STARR-seq lymphoblastoid active region 3544 [Gene]
- LOC130004060:ATAC-STARR-seq lymphoblastoid active region 3545 [Gene]
- LOC130004061:ATAC-STARR-seq lymphoblastoid active region 3546 [Gene]
- LOC130004062:ATAC-STARR-seq lymphoblastoid active region 3547 [Gene]
- LOC130004063:ATAC-STARR-seq lymphoblastoid active region 3548 [Gene]
- LOC130004064:ATAC-STARR-seq lymphoblastoid active region 3549 [Gene]
- LOC130004066:ATAC-STARR-seq lymphoblastoid active region 3551 [Gene]
- LOC130004070:ATAC-STARR-seq lymphoblastoid active region 3552 [Gene]
- LOC130004072:ATAC-STARR-seq lymphoblastoid active region 3553 [Gene]
- LOC130004073:ATAC-STARR-seq lymphoblastoid active region 3554 [Gene]
- LOC130004074:ATAC-STARR-seq lymphoblastoid active region 3555 [Gene]
- LOC130004075:ATAC-STARR-seq lymphoblastoid active region 3561 [Gene]
- LOC130004076:ATAC-STARR-seq lymphoblastoid active region 3562 [Gene]
- LOC130004078:ATAC-STARR-seq lymphoblastoid active region 3563 [Gene]
- LOC130004080:ATAC-STARR-seq lymphoblastoid active region 3564 [Gene]
- LOC130004082:ATAC-STARR-seq lymphoblastoid active region 3565 [Gene]
- LOC130004083:ATAC-STARR-seq lymphoblastoid active region 3566 [Gene]
- LOC130004084:ATAC-STARR-seq lymphoblastoid active region 3567 [Gene]
- LOC130004085:ATAC-STARR-seq lymphoblastoid active region 3568 [Gene]
- LOC130004086:ATAC-STARR-seq lymphoblastoid active region 3570 [Gene]
- LOC130004087:ATAC-STARR-seq lymphoblastoid active region 3571 [Gene]
- LOC130004089:ATAC-STARR-seq lymphoblastoid active region 3572 [Gene]
- LOC130004090:ATAC-STARR-seq lymphoblastoid active region 3574 [Gene]
- LOC130004091:ATAC-STARR-seq lymphoblastoid active region 3575 [Gene]
- LOC130004092:ATAC-STARR-seq lymphoblastoid active region 3576 [Gene]
- LOC130004096:ATAC-STARR-seq lymphoblastoid active region 3577 [Gene]
- LOC130004101:ATAC-STARR-seq lymphoblastoid active region 3578 [Gene]
- LOC130004102:ATAC-STARR-seq lymphoblastoid active region 3579 [Gene]
- LOC130004103:ATAC-STARR-seq lymphoblastoid active region 3580 [Gene]
- LOC130004105:ATAC-STARR-seq lymphoblastoid active region 3584 [Gene]
- LOC130004106:ATAC-STARR-seq lymphoblastoid active region 3585 [Gene]
- LOC130004107:ATAC-STARR-seq lymphoblastoid active region 3586 [Gene]
- LOC130004109:ATAC-STARR-seq lymphoblastoid active region 3587 [Gene]
- LOC130004110:ATAC-STARR-seq lymphoblastoid active region 3588 [Gene]
- LOC130004111:ATAC-STARR-seq lymphoblastoid active region 3589 [Gene]
- LOC130004112:ATAC-STARR-seq lymphoblastoid active region 3590 [Gene]
- LOC130004113:ATAC-STARR-seq lymphoblastoid active region 3591 [Gene]
- LOC130004114:ATAC-STARR-seq lymphoblastoid active region 3593 [Gene]
- LOC130004115:ATAC-STARR-seq lymphoblastoid active region 3594 [Gene]
- LOC130004116:ATAC-STARR-seq lymphoblastoid active region 3595 [Gene]
- LOC130004117:ATAC-STARR-seq lymphoblastoid active region 3596 [Gene]
- LOC130004118:ATAC-STARR-seq lymphoblastoid active region 3597 [Gene]
- LOC130004119:ATAC-STARR-seq lymphoblastoid active region 3598 [Gene]
- LOC130004122:ATAC-STARR-seq lymphoblastoid active region 3600 [Gene]
- LOC130004123:ATAC-STARR-seq lymphoblastoid active region 3601 [Gene]
- LOC130004124:ATAC-STARR-seq lymphoblastoid active region 3602 [Gene]
- LOC130004126:ATAC-STARR-seq lymphoblastoid active region 3603 [Gene]
- LOC130004127:ATAC-STARR-seq lymphoblastoid active region 3604 [Gene]
- LOC130004128:ATAC-STARR-seq lymphoblastoid active region 3605 [Gene]
- LOC130004129:ATAC-STARR-seq lymphoblastoid active region 3606 [Gene]
- LOC130004131:ATAC-STARR-seq lymphoblastoid active region 3608 [Gene]
- LOC130004139:ATAC-STARR-seq lymphoblastoid active region 3609 [Gene]
- LOC130004141:ATAC-STARR-seq lymphoblastoid active region 3610 [Gene]
- LOC130004142:ATAC-STARR-seq lymphoblastoid active region 3611 [Gene]
- LOC130004143:ATAC-STARR-seq lymphoblastoid active region 3612 [Gene]
- LOC130004144:ATAC-STARR-seq lymphoblastoid active region 3613 [Gene]
- LOC130004145:ATAC-STARR-seq lymphoblastoid active region 3614 [Gene]
- LOC130004146:ATAC-STARR-seq lymphoblastoid active region 3615 [Gene]
- LOC130004147:ATAC-STARR-seq lymphoblastoid active region 3616 [Gene]
- LOC130004148:ATAC-STARR-seq lymphoblastoid active region 3617 [Gene]
- LOC130004150:ATAC-STARR-seq lymphoblastoid active region 3618 [Gene]
- LOC130004154:ATAC-STARR-seq lymphoblastoid active region 3619 [Gene]
- LOC130004155:ATAC-STARR-seq lymphoblastoid active region 3620 [Gene]
- LOC130004156:ATAC-STARR-seq lymphoblastoid active region 3622 [Gene]
- LOC130004160:ATAC-STARR-seq lymphoblastoid active region 3623 [Gene]
- LOC130004162:ATAC-STARR-seq lymphoblastoid active region 3625 [Gene]
- LOC130004163:ATAC-STARR-seq lymphoblastoid active region 3626 [Gene]
- LOC130004165:ATAC-STARR-seq lymphoblastoid active region 3627 [Gene]
- LOC130004168:ATAC-STARR-seq lymphoblastoid active region 3628 [Gene]
- LOC130004169:ATAC-STARR-seq lymphoblastoid active region 3629 [Gene]
- LOC130004170:ATAC-STARR-seq lymphoblastoid active region 3632 [Gene]
- LOC130004171:ATAC-STARR-seq lymphoblastoid active region 3633 [Gene]
- LOC130004172:ATAC-STARR-seq lymphoblastoid active region 3634 [Gene]
- LOC130004173:ATAC-STARR-seq lymphoblastoid active region 3635 [Gene]
- LOC130004175:ATAC-STARR-seq lymphoblastoid active region 3637 [Gene]
- LOC130004176:ATAC-STARR-seq lymphoblastoid active region 3638 [Gene]
- LOC130004177:ATAC-STARR-seq lymphoblastoid active region 3639 [Gene]
- LOC130004179:ATAC-STARR-seq lymphoblastoid active region 3643 [Gene]
- LOC130003941:ATAC-STARR-seq lymphoblastoid silent region 2416 [Gene]
- LOC130003942:ATAC-STARR-seq lymphoblastoid silent region 2417 [Gene]
- LOC130003943:ATAC-STARR-seq lymphoblastoid silent region 2418 [Gene]
- LOC130003951:ATAC-STARR-seq lymphoblastoid silent region 2421 [Gene]
- LOC130003952:ATAC-STARR-seq lymphoblastoid silent region 2422 [Gene]
- LOC130003953:ATAC-STARR-seq lymphoblastoid silent region 2423 [Gene]
- LOC130003954:ATAC-STARR-seq lymphoblastoid silent region 2424 [Gene]
- LOC130003960:ATAC-STARR-seq lymphoblastoid silent region 2425 [Gene]
- LOC130003965:ATAC-STARR-seq lymphoblastoid silent region 2426 [Gene]
- LOC130003972:ATAC-STARR-seq lymphoblastoid silent region 2427 [Gene]
- LOC130003974:ATAC-STARR-seq lymphoblastoid silent region 2428 [Gene]
- LOC130003976:ATAC-STARR-seq lymphoblastoid silent region 2429 [Gene]
- LOC130003980:ATAC-STARR-seq lymphoblastoid silent region 2430 [Gene]
- LOC130003982:ATAC-STARR-seq lymphoblastoid silent region 2431 [Gene]
- LOC130003983:ATAC-STARR-seq lymphoblastoid silent region 2432 [Gene]
- LOC130003984:ATAC-STARR-seq lymphoblastoid silent region 2433 [Gene]
- LOC130003985:ATAC-STARR-seq lymphoblastoid silent region 2434 [Gene]
- LOC130003988:ATAC-STARR-seq lymphoblastoid silent region 2435 [Gene]
- LOC130003989:ATAC-STARR-seq lymphoblastoid silent region 2436 [Gene]
- LOC130003991:ATAC-STARR-seq lymphoblastoid silent region 2437 [Gene]
- LOC130003992:ATAC-STARR-seq lymphoblastoid silent region 2438 [Gene]
- LOC130003994:ATAC-STARR-seq lymphoblastoid silent region 2440 [Gene]
- LOC130003996:ATAC-STARR-seq lymphoblastoid silent region 2441 [Gene]
- LOC130003999:ATAC-STARR-seq lymphoblastoid silent region 2443 [Gene]
- LOC130004002:ATAC-STARR-seq lymphoblastoid silent region 2444 [Gene]
- LOC130004005:ATAC-STARR-seq lymphoblastoid silent region 2445 [Gene]
- LOC130004007:ATAC-STARR-seq lymphoblastoid silent region 2446 [Gene]
- LOC130004008:ATAC-STARR-seq lymphoblastoid silent region 2447 [Gene]
- LOC130004010:ATAC-STARR-seq lymphoblastoid silent region 2448 [Gene]
- LOC130004011:ATAC-STARR-seq lymphoblastoid silent region 2449 [Gene]
- LOC130004012:ATAC-STARR-seq lymphoblastoid silent region 2450 [Gene]
- LOC130004016:ATAC-STARR-seq lymphoblastoid silent region 2451 [Gene]
- LOC130004017:ATAC-STARR-seq lymphoblastoid silent region 2452 [Gene]
- LOC130004018:ATAC-STARR-seq lymphoblastoid silent region 2453 [Gene]
- LOC130004019:ATAC-STARR-seq lymphoblastoid silent region 2454 [Gene]
- LOC130004020:ATAC-STARR-seq lymphoblastoid silent region 2455 [Gene]
- LOC130004021:ATAC-STARR-seq lymphoblastoid silent region 2456 [Gene]
- LOC130004022:ATAC-STARR-seq lymphoblastoid silent region 2457 [Gene]
- LOC130004023:ATAC-STARR-seq lymphoblastoid silent region 2458 [Gene]
- LOC130004024:ATAC-STARR-seq lymphoblastoid silent region 2459 [Gene]
- LOC130004025:ATAC-STARR-seq lymphoblastoid silent region 2461 [Gene]
- LOC130004026:ATAC-STARR-seq lymphoblastoid silent region 2462 [Gene]
- LOC130004029:ATAC-STARR-seq lymphoblastoid silent region 2463 [Gene]
- LOC130004030:ATAC-STARR-seq lymphoblastoid silent region 2464 [Gene]
- LOC130004037:ATAC-STARR-seq lymphoblastoid silent region 2465 [Gene]
- LOC130004038:ATAC-STARR-seq lymphoblastoid silent region 2466 [Gene]
- LOC130004040:ATAC-STARR-seq lymphoblastoid silent region 2467 [Gene]
- LOC130004042:ATAC-STARR-seq lymphoblastoid silent region 2468 [Gene]
- LOC130004052:ATAC-STARR-seq lymphoblastoid silent region 2471 [Gene]
- LOC130004054:ATAC-STARR-seq lymphoblastoid silent region 2472 [Gene]
- LOC130004056:ATAC-STARR-seq lymphoblastoid silent region 2473 [Gene]
- LOC130004058:ATAC-STARR-seq lymphoblastoid silent region 2474 [Gene]
- LOC130004065:ATAC-STARR-seq lymphoblastoid silent region 2475 [Gene]
- LOC130004067:ATAC-STARR-seq lymphoblastoid silent region 2476 [Gene]
- LOC130004068:ATAC-STARR-seq lymphoblastoid silent region 2477 [Gene]
- LOC130004069:ATAC-STARR-seq lymphoblastoid silent region 2478 [Gene]
- LOC130004071:ATAC-STARR-seq lymphoblastoid silent region 2479 [Gene]
- LOC130004077:ATAC-STARR-seq lymphoblastoid silent region 2483 [Gene]
- LOC130004079:ATAC-STARR-seq lymphoblastoid silent region 2484 [Gene]
- LOC130004081:ATAC-STARR-seq lymphoblastoid silent region 2486 [Gene]
- LOC130004088:ATAC-STARR-seq lymphoblastoid silent region 2487 [Gene]
- LOC130004093:ATAC-STARR-seq lymphoblastoid silent region 2488 [Gene]
- LOC130004094:ATAC-STARR-seq lymphoblastoid silent region 2489 [Gene]
- LOC130004095:ATAC-STARR-seq lymphoblastoid silent region 2490 [Gene]
- LOC130004097:ATAC-STARR-seq lymphoblastoid silent region 2491 [Gene]
- LOC130004098:ATAC-STARR-seq lymphoblastoid silent region 2492 [Gene]
- LOC130004099:ATAC-STARR-seq lymphoblastoid silent region 2493 [Gene]
- LOC130004100:ATAC-STARR-seq lymphoblastoid silent region 2494 [Gene]
- LOC130004104:ATAC-STARR-seq lymphoblastoid silent region 2495 [Gene]
- LOC130004108:ATAC-STARR-seq lymphoblastoid silent region 2498 [Gene]
- LOC130004120:ATAC-STARR-seq lymphoblastoid silent region 2500 [Gene]
- LOC130004121:ATAC-STARR-seq lymphoblastoid silent region 2504 [Gene]
- LOC130004125:ATAC-STARR-seq lymphoblastoid silent region 2505 [Gene]
- LOC130004130:ATAC-STARR-seq lymphoblastoid silent region 2508 [Gene]
- LOC130004132:ATAC-STARR-seq lymphoblastoid silent region 2509 [Gene]
- LOC130004133:ATAC-STARR-seq lymphoblastoid silent region 2510 [Gene]
- LOC130004134:ATAC-STARR-seq lymphoblastoid silent region 2511 [Gene]
- LOC130004135:ATAC-STARR-seq lymphoblastoid silent region 2512 [Gene]
- LOC130004136:ATAC-STARR-seq lymphoblastoid silent region 2513 [Gene]
- LOC130004137:ATAC-STARR-seq lymphoblastoid silent region 2514 [Gene]
- LOC130004138:ATAC-STARR-seq lymphoblastoid silent region 2515 [Gene]
- LOC130004140:ATAC-STARR-seq lymphoblastoid silent region 2517 [Gene]
- LOC130004149:ATAC-STARR-seq lymphoblastoid silent region 2518 [Gene]
- LOC130004151:ATAC-STARR-seq lymphoblastoid silent region 2519 [Gene]
- LOC130004152:ATAC-STARR-seq lymphoblastoid silent region 2520 [Gene]
- LOC130004153:ATAC-STARR-seq lymphoblastoid silent region 2521 [Gene]
- LOC130004157:ATAC-STARR-seq lymphoblastoid silent region 2523 [Gene]
- LOC130004158:ATAC-STARR-seq lymphoblastoid silent region 2524 [Gene]
- LOC130004159:ATAC-STARR-seq lymphoblastoid silent region 2525 [Gene]
- LOC130004161:ATAC-STARR-seq lymphoblastoid silent region 2528 [Gene]
- LOC130004164:ATAC-STARR-seq lymphoblastoid silent region 2529 [Gene]
- LOC130004166:ATAC-STARR-seq lymphoblastoid silent region 2531 [Gene]
- LOC130004167:ATAC-STARR-seq lymphoblastoid silent region 2532 [Gene]
- LOC130004174:ATAC-STARR-seq lymphoblastoid silent region 2537 [Gene]
- LOC130004178:ATAC-STARR-seq lymphoblastoid silent region 2538 [Gene]
- AGAP5:ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 [Gene - HGNC]
- LOC126860951:BRD4-independent group 4 enhancer GRCh37_chr10:71566529-71567728 [Gene]
- LOC126860960:BRD4-independent group 4 enhancer GRCh37_chr10:75672789-75673988 [Gene]
- LOC126860962:BRD4-independent group 4 enhancer GRCh37_chr10:77142242-77143441 [Gene]
- LOC126860966:BRD4-independent group 4 enhancer GRCh37_chr10:79135632-79136831 [Gene]
- LOC126860967:BRD4-independent group 4 enhancer GRCh37_chr10:79291078-79292277 [Gene]
- LOC126860970:BRD4-independent group 4 enhancer GRCh37_chr10:79743812-79745011 [Gene]
- LOC126860974:BRD4-independent group 4 enhancer GRCh37_chr10:80943423-80944622 [Gene]
- LOC126860976:BRD4-independent group 4 enhancer GRCh37_chr10:81091043-81092242 [Gene]
- CDH23-AS1:CDH23 antisense RNA 1 [Gene - HGNC]
- LOC126860952:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:73006150-73007349 [Gene]
- LOC126860953:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:73485282-73486481 [Gene]
- LOC126860955:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75006455-75007654 [Gene]
- LOC126860957:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75548316-75549515 [Gene]
- LOC126860958:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75646944-75648143 [Gene]
- LOC126860959:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75668366-75669565 [Gene]
- LOC126860963:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:78383798-78384997 [Gene]
- LOC126860969:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:79627013-79628212 [Gene]
- LOC126860971:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:79784551-79785750 [Gene]
- LOC126860975:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:81064163-81065362 [Gene]
- LOC128462387:CRISPRi-FlowFISH-validated PPIF regulatory element GRCh37_chr10:80782948-80783448 [Gene]
- LOC124416852:CRISPRi-FlowFISH-validated PPIF regulatory element GRCh37_chr10:80892363-80892863 [Gene]
- LOC128462381:CRISPRi-FlowFISH-validated PPIF regulatory element GRCh37_chr10:81004281-81005113 [Gene]
- LOC128462388:CRISPRi-FlowFISH-validated PPIF regulatory element GRCh37_chr10:81044989-81045489 [Gene]
- LOC128462389:CRISPRi-FlowFISH-validated PPIF regulatory element GRCh37_chr10:81115805-81116305 [Gene]
- LOC128462390:CRISPRi-FlowFISH-validated PPIF regulatory element GRCh37_chr10:81159191-81159691 [Gene]
- LOC128462378:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:80853442-80853942 and GRCh37_chr10:80853471-80853971 [Gene]
- LOC128462379:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81003385-81003885 and GRCh37_chr10:81003389-81003889 [Gene]
- LOC128462398:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81053513-81054274 and GRCh37_chr10:81053559-81054389 [Gene]
- LOC128462399:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81076336-81076836 to GRCh37_chr10:81076368-81076868 [Gene]
- LOC128462400:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81077051-81077551 to GRCh37_chr10:81077572-81078072 [Gene]
- LOC128462401:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81080832-81081332 to GRCh37_chr10:81080873-81081373 [Gene]
- LOC128462402:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81082504-81083416 to GRCh37_chr10:81082920-81083420 [Gene]
- LOC128462403:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81088372-81088872 to GRCh37_chr10:81088582-81089082 [Gene]
- LOC128462404:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81106892-81107469 to GRCh37_chr10:81107706-81108206 [Gene]
- LOC128462405:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81112809-81113784 to GRCh37_chr10:81113845-81114345 [Gene]
- LOC128462406:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81134127-81134627 and GRCh37_chr10:81134130-81134914 [Gene]
- LOC128462407:CRISPRi-FlowFISH-validated PPIF regulatory elements GRCh37_chr10:81163946-81164446 and GRCh37_chr10:81163953-81164453 [Gene]
- LOC116216114:CRISPRi-validated cis-regulatory element chr10.2252 [Gene]
- LOC116216115:CRISPRi-validated cis-regulatory element chr10.2661 [Gene]
- LOC116216116:CRISPRi-validated cis-regulatory element chr10.2662 [Gene]
- DDIT4-AS1:DDIT4 antisense RNA 1 [Gene - HGNC]
- DDX21:DExD-box helicase 21 [Gene - OMIM - HGNC]
- DDX50:DExD-box helicase 50 [Gene - OMIM - HGNC]
- DLG5-AS1:DLG5 antisense RNA 1 [Gene - HGNC]
- DDIT4:DNA damage inducible transcript 4 [Gene - OMIM - HGNC]
- DNA2:DNA replication helicase/nuclease 2 [Gene - OMIM - HGNC]
- DNAJC9-AS1:DNAJC9 and MRPS16 antisense RNA 1 [Gene - HGNC]
- DNAJB12:DnaJ heat shock protein family (Hsp40) member B12 [Gene - OMIM - HGNC]
- DNAJC12:DnaJ heat shock protein family (Hsp40) member C12 [Gene - OMIM - HGNC]
- DNAJC9:DnaJ heat shock protein family (Hsp40) member C9 [Gene - OMIM - HGNC]
- LOC120807611:H3K27me3-DHS negatively-acting regulatory element H2 [Gene]
- HERC4:HECT and RLD domain containing E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
- LOC111413023:HNF1 motif-containing MPRA enhancer 157 [Gene]
- LOC111365175:HNF1 motif-containing MPRA enhancer 4 [Gene]
- LOC111365196:HNF4 motif-containing MPRA enhancer 70 [Gene]
- KCNMA1-AS1:KCNMA1 antisense RNA 1 [Gene - HGNC]
- KCNMA1-AS2:KCNMA1 antisense RNA 2 [Gene - HGNC]
- KCNMA1-AS3:KCNMA1 antisense RNA 3 [Gene - HGNC]
- LOC126860949:MED14-independent group 3 enhancer GRCh37_chr10:70847990-70849189 [Gene]
- LOC126860950:MED14-independent group 3 enhancer GRCh37_chr10:70991590-70992789 [Gene]
- LOC126860956:MED14-independent group 3 enhancer GRCh37_chr10:75503472-75504671 [Gene]
- LOC121366064:MED14-independent group 3 enhancer GRCh37_chr10:78923175-78924374 [Gene]
- LOC126860968:MED14-independent group 3 enhancer GRCh37_chr10:79418700-79419899 [Gene]
- LOC126860972:MED14-independent group 3 enhancer GRCh37_chr10:80015479-80016678 [Gene]
- LOC126860973:MED14-independent group 3 enhancer GRCh37_chr10:80806812-80808011 [Gene]
- LOC129390196:MPRA-validated peak1002 silencer [Gene]
- LOC129390197:MPRA-validated peak1005 silencer [Gene]
- LOC129390198:MPRA-validated peak1006 silencer [Gene]
- LOC129390199:MPRA-validated peak1010 silencer [Gene]
- LOC129390200:MPRA-validated peak1011 silencer [Gene]
- LOC129390201:MPRA-validated peak1012 silencer [Gene]
- LOC129390202:MPRA-validated peak1013 silencer [Gene]
- LOC129390203:MPRA-validated peak1017 silencer [Gene]
- LOC129390204:MPRA-validated peak1019 silencer [Gene]
- LOC129390205:MPRA-validated peak1024 silencer [Gene]
- LOC129390206:MPRA-validated peak1025 silencer [Gene]
- LOC129390188:MPRA-validated peak985 silencer [Gene]
- LOC129390189:MPRA-validated peak989 silencer [Gene]
- LOC129390190:MPRA-validated peak990 silencer [Gene]
- LOC129390191:MPRA-validated peak991 silencer [Gene]
- LOC129390192:MPRA-validated peak992 silencer [Gene]
- LOC129390193:MPRA-validated peak994 silencer [Gene]
- LOC129390194:MPRA-validated peak997 silencer [Gene]
- LOC129390195:MPRA-validated peak999 silencer [Gene]
- MSS51:MSS51 mitochondrial translational activator [Gene - OMIM - HGNC]
- NDST2:N-deacetylase and N-sulfotransferase 2 [Gene - OMIM - HGNC]
- NDST2-ZSWIM8-AS1:NDST2-ZSWIM8-AS1 readthrough [Gene]
- LOC108178982:NEUROG3 upstream region homotypic clusters of transcription factor binding sites enhancer [Gene]
- LOC111365158:NFE2L2 motif-containing MPRA enhancers 43 and 138 [Gene]
- LOC111365164:NFE2L2 motif-containing MPRA enhancers 69 and 123 [Gene]
- LOC132089823:Neanderthal introgressed variant-containing enhancer experimental_15618 [Gene]
- LOC132089824:Neanderthal introgressed variant-containing enhancer experimental_15623 [Gene]
- LOC132090815:Neanderthal introgressed variant-containing enhancer experimental_15629 [Gene]
- LOC132090816:Neanderthal introgressed variant-containing enhancer experimental_15668 [Gene]
- LOC132089825:Neanderthal introgressed variant-containing enhancer experimental_15678 [Gene]
- LOC132089826:Neanderthal introgressed variant-containing enhancer experimental_15807 [Gene]
- LOC132089827:Neanderthal introgressed variant-containing enhancer experimental_15830 [Gene]
- LOC132089828:Neanderthal introgressed variant-containing enhancer experimental_15959 [Gene]
- LOC132090817:Neanderthal introgressed variant-containing enhancer experimental_15994 [Gene]
- LOC132090818:Neanderthal introgressed variant-containing enhancer experimental_16073 [Gene]
- LOC132089829:Neanderthal introgressed variant-containing enhancer experimental_16132 [Gene]
- LOC132089830:Neanderthal introgressed variant-containing enhancer experimental_16136 [Gene]
- LOC132089831:Neanderthal introgressed variant-containing enhancer experimental_16144 [Gene]
- LOC132089832:Neanderthal introgressed variant-containing enhancer experimental_16173 [Gene]
- LOC132089833:Neanderthal introgressed variant-containing enhancer experimental_16197 [Gene]
- LOC132090819:Neanderthal introgressed variant-containing enhancer experimental_16219 [Gene]
- LOC132089834:Neanderthal introgressed variant-containing enhancer experimental_16253 [Gene]
- LOC132089835:Neanderthal introgressed variant-containing enhancer experimental_16457 [Gene]
- LOC132089836:Neanderthal introgressed variant-containing enhancer experimental_16478 [Gene]
- LOC132089837:Neanderthal introgressed variant-containing enhancer experimental_16557 [Gene]
- LOC132089838:Neanderthal introgressed variant-containing enhancer experimental_16564 [Gene]
- LOC132089839:Neanderthal introgressed variant-containing enhancer experimental_16571 [Gene]
- LOC132089840:Neanderthal introgressed variant-containing enhancer experimental_16583 [Gene]
- LOC132089841:Neanderthal introgressed variant-containing enhancer experimental_16593 [Gene]
- LOC132089842:Neanderthal introgressed variant-containing enhancer experimental_16635 [Gene]
- LOC132089843:Neanderthal introgressed variant-containing enhancer experimental_16643 [Gene]
- LOC132089844:Neanderthal introgressed variant-containing enhancer experimental_16656 [Gene]
- LOC132089845:Neanderthal introgressed variant-containing enhancer experimental_16674 [Gene]
- LOC132089846:Neanderthal introgressed variant-containing enhancer experimental_16683 [Gene]
- LOC132090820:Neanderthal introgressed variant-containing enhancer experimental_16686/16687 [Gene]
- LOC132089847:Neanderthal introgressed variant-containing enhancer experimental_16694 [Gene]
- LOC132089849:Neanderthal introgressed variant-containing enhancer experimental_16818 [Gene]
- LOC132089850:Neanderthal introgressed variant-containing enhancer experimental_16833 [Gene]
- LOC132089851:Neanderthal introgressed variant-containing enhancer experimental_16857 [Gene]
- LOC132089852:Neanderthal introgressed variant-containing enhancer experimental_16866 [Gene]
- LOC132089853:Neanderthal introgressed variant-containing enhancer experimental_16874 [Gene]
- LOC132089854:Neanderthal introgressed variant-containing enhancer experimental_16884 [Gene]
- LOC132089855:Neanderthal introgressed variant-containing enhancer experimental_16893 [Gene]
- LOC132089856:Neanderthal introgressed variant-containing enhancer experimental_16897 [Gene]
- LOC132089857:Neanderthal introgressed variant-containing enhancer experimental_16901 [Gene]
- LOC132089858:Neanderthal introgressed variant-containing enhancer experimental_16907 [Gene]
- LOC132089859:Neanderthal introgressed variant-containing enhancer experimental_16918 [Gene]
- LOC132090821:Neanderthal introgressed variant-containing enhancer experimental_16959 [Gene]
- LOC132089860:Neanderthal introgressed variant-containing enhancer experimental_16968 [Gene]
- LOC132089862:Neanderthal introgressed variant-containing enhancer experimental_16991 [Gene]
- LOC132090822:Neanderthal introgressed variant-containing enhancer experimental_16994 [Gene]
- LOC132089863:Neanderthal introgressed variant-containing enhancer experimental_16995 [Gene]
- LOC132089864:Neanderthal introgressed variant-containing enhancer experimental_17069 [Gene]
- LOC132090823:Neanderthal introgressed variant-containing enhancer experimental_17237 [Gene]
- LOC132089865:Neanderthal introgressed variant-containing enhancer experimental_17283 [Gene]
- LOC132089866:Neanderthal introgressed variant-containing enhancer experimental_17317 [Gene]
- LOC132211102:Neanderthal introgressed variant-containing enhancers experimental_16661/16662 and experimental_16666/16667 [Gene]
- LOC126860954:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:73526094-73527293 [Gene]
- LOC124416834:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:74081426-74082625 [Gene]
- LOC126860961:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:75691709-75692908 [Gene]
- LOC126860964:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:78733040-78734239 [Gene]
- LOC126860965:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:79110032-79111231 [Gene]
- PPP3CB-AS1:PPP3CB antisense RNA 1 (head to head) [Gene - HGNC]
- POLR3A:RNA polymerase III subunit A [Gene - OMIM - HGNC]
- RUFY2:RUN and FYVE domain containing 2 [Gene - OMIM - HGNC]
- SEC24C:SEC24 homolog C, COPII coat complex component [Gene - OMIM - HGNC]
- LOC107832851:SIRT1 promoter region [Gene]
- SPOCK2:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2 [Gene - OMIM - HGNC]
- SYNPO2L-AS1:SYNPO2L antisense RNA 1 [Gene - HGNC]
- LOC111946250:Sharpr-MPRA regulatory region 10071 [Gene]
- LOC124416843:Sharpr-MPRA regulatory region 10124 [Gene]
- LOC121366063:Sharpr-MPRA regulatory region 10683 [Gene]
- LOC121815944:Sharpr-MPRA regulatory region 10829 [Gene]
- LOC111982866:Sharpr-MPRA regulatory region 10859 [Gene]
- LOC124416846:Sharpr-MPRA regulatory region 11048 [Gene]
- LOC111982867:Sharpr-MPRA regulatory region 11165 [Gene]
- LOC121815952:Sharpr-MPRA regulatory region 1120 [Gene]
- LOC121815951:Sharpr-MPRA regulatory region 11789 [Gene]
- LOC121815947:Sharpr-MPRA regulatory region 11817 [Gene]
- LOC121366061:Sharpr-MPRA regulatory region 1217 [Gene]
- LOC124416835:Sharpr-MPRA regulatory region 12193 [Gene]
- LOC111982868:Sharpr-MPRA regulatory region 12298 [Gene]
- LOC121815945:Sharpr-MPRA regulatory region 12376 [Gene]
- LOC124416837:Sharpr-MPRA regulatory region 12879 [Gene]
- LOC124403971:Sharpr-MPRA regulatory region 12986 [Gene]
- LOC121815949:Sharpr-MPRA regulatory region 13746 [Gene]
- LOC124416844:Sharpr-MPRA regulatory region 13796 [Gene]
- LOC111982865:Sharpr-MPRA regulatory region 14270 [Gene]
- LOC121366059:Sharpr-MPRA regulatory region 14353 [Gene]
- LOC111982870:Sharpr-MPRA regulatory region 14427 [Gene]
- LOC124416851:Sharpr-MPRA regulatory region 14781 [Gene]
- LOC124416845:Sharpr-MPRA regulatory region 15163 [Gene]
- LOC111982869:Sharpr-MPRA regulatory region 2121 [Gene]
- LOC111982864:Sharpr-MPRA regulatory region 2430 [Gene]
- LOC124416853:Sharpr-MPRA regulatory region 270 [Gene]
- LOC121366066:Sharpr-MPRA regulatory region 2866 [Gene]
- LOC124416841:Sharpr-MPRA regulatory region 295 [Gene]
- LOC121815950:Sharpr-MPRA regulatory region 2984 [Gene]
- LOC124416848:Sharpr-MPRA regulatory region 3593 [Gene]
- LOC124403975:Sharpr-MPRA regulatory region 3619 [Gene]
- LOC113939917:Sharpr-MPRA regulatory region 368 [Gene]
- LOC121815946:Sharpr-MPRA regulatory region 4082 [Gene]
- LOC124416840:Sharpr-MPRA regulatory region 4338 [Gene]
- LOC124416833:Sharpr-MPRA regulatory region 4371 [Gene]
- LOC121366058:Sharpr-MPRA regulatory region 4423 [Gene]
- LOC121366065:Sharpr-MPRA regulatory region 4447 [Gene]
- LOC124416842:Sharpr-MPRA regulatory region 4496 [Gene]
- LOC121366060:Sharpr-MPRA regulatory region 4598 [Gene]
- LOC124416839:Sharpr-MPRA regulatory region 4994 [Gene]
- LOC121815943:Sharpr-MPRA regulatory region 5024 [Gene]
- LOC111982863:Sharpr-MPRA regulatory region 5966 [Gene]
- LOC124403973:Sharpr-MPRA regulatory region 5989 [Gene]
- LOC111982873:Sharpr-MPRA regulatory region 6049 [Gene]
- LOC121366062:Sharpr-MPRA regulatory region 6662 [Gene]
- LOC124416847:Sharpr-MPRA regulatory region 6857 [Gene]
- LOC124416836:Sharpr-MPRA regulatory region 7737 [Gene]
- LOC124403972:Sharpr-MPRA regulatory region 7890 [Gene]
- LOC111982871:Sharpr-MPRA regulatory region 7934 [Gene]
- LOC111949323:Sharpr-MPRA regulatory region 82 [Gene]
- LOC111982875:Sharpr-MPRA regulatory region 8427 [Gene]
- LOC124416850:Sharpr-MPRA regulatory region 8439 [Gene]
- LOC124416849:Sharpr-MPRA regulatory region 8551 [Gene]
- LOC121815948:Sharpr-MPRA regulatory region 8691 [Gene]
- LOC124403976:Sharpr-MPRA regulatory region 8837 [Gene]
- LOC111982872:Sharpr-MPRA regulatory region 9595 [Gene]
- LOC124416838:Sharpr-MPRA regulatory region 9775 [Gene]
- LOC124403974:Sharpr-MPRA regulatory regions 12566 and 14132 [Gene]
- SUPV3L1:Suv3 like RNA helicase [Gene - OMIM - HGNC]
- UNC5B-AS1:UNC5B antisense RNA 1 [Gene - HGNC]
- VSIR:V-set immunoregulatory receptor [Gene - OMIM - HGNC]
- LOC110121364:VISTA enhancer hs1434 [Gene]
- LOC110121366:VISTA enhancer hs1437 [Gene]
- LOC110121379:VISTA enhancer hs1491 [Gene]
- LOC110121382:VISTA enhancer hs1500 [Gene]
- LOC110121427:VISTA enhancer hs1679 [Gene]
- LOC110121428:VISTA enhancer hs1683 [Gene]
- LOC110121445:VISTA enhancer hs1767 [Gene]
- LOC110121470:VISTA enhancer hs1974 [Gene]
- LOC110121485:VISTA enhancer hs2142 [Gene]
- LOC110121496:VISTA enhancer hs2223 [Gene]
- LOC110120849:VISTA enhancer hs320 [Gene]
- LOC110120879:VISTA enhancer hs484 [Gene]
- LOC110120903:VISTA enhancer hs595 [Gene]
- LOC110120929:VISTA enhancer hs748 [Gene]
- VPS26A:VPS26 retromer complex component A [Gene - OMIM - HGNC]
- ZMIZ1-AS1:ZMIZ1 antisense RNA 1 [Gene - HGNC]
- ZNF503-AS1:ZNF503 antisense RNA 1 [Gene - HGNC]
- ZNF503-AS2:ZNF503 antisense RNA 2 [Gene - HGNC]
- ZSWIM8-AS1:ZSWIM8 antisense RNA 1 [Gene - HGNC]
- ASCC1:activating signal cointegrator 1 complex subunit 1 [Gene - OMIM - HGNC]
- AP3M1:adaptor related protein complex 3 subunit mu 1 [Gene - OMIM - HGNC]
- ADK:adenosine kinase [Gene - OMIM - HGNC]
- ANAPC16:anaphase promoting complex subunit 16 [Gene - OMIM - HGNC]
- ANXA7:annexin A7 [Gene - OMIM - HGNC]
- AIFM2:apoptosis inducing factor mitochondria associated 2 [Gene - OMIM - HGNC]
- ATOH7:atonal bHLH transcription factor 7 [Gene - OMIM - HGNC]
- CDH23:cadherin related 23 [Gene - OMIM - HGNC]
- CAMK2G:calcium/calmodulin dependent protein kinase II gamma [Gene - OMIM - HGNC]
- CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]
- COMTD1:catechol-O-methyltransferase domain containing 1 [Gene - HGNC]
- CTNNA3:catenin alpha 3 [Gene - OMIM - HGNC]
- CCAR1:cell division cycle and apoptosis regulator 1 [Gene - OMIM - HGNC]
- C10orf105:chromosome 10 open reading frame 105 [Gene - HGNC]
- C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
- CFAP70:cilia and flagella associated protein 70 [Gene - OMIM - HGNC]
- CHCHD1:coiled-coil-helix-coiled-coil-helix domain containing 1 [Gene - OMIM - HGNC]
- COL13A1:collagen type XIII alpha 1 chain [Gene - OMIM - HGNC]
- DLG5:discs large MAGUK scaffold protein 5 [Gene - OMIM - HGNC]
- DUSP13A:dual specificity phosphatase 13A [Gene - HGNC]
- DUSP13B:dual specificity phosphatase 13B [Gene - OMIM - HGNC]
- DUSP29:dual specificity phosphatase 29 [Gene - OMIM - HGNC]
- ECD:ecdysoneless cell cycle regulator [Gene - OMIM - HGNC]
- EIF4EBP2:eukaryotic translation initiation factor 4E binding protein 2 [Gene - OMIM - HGNC]
- FAM149B1:family with sequence similarity 149 member B1 [Gene - OMIM - HGNC]
- FAM241B:family with sequence similarity 241 member B [Gene - HGNC]
- FUT11:fucosyltransferase 11 [Gene - OMIM - HGNC]
- HNRNPH3:heterogeneous nuclear ribonucleoprotein H3 [Gene - OMIM - HGNC]
- HK1:hexokinase 1 [Gene - OMIM - HGNC]
- HKDC1:hexokinase domain containing 1 [Gene - OMIM - HGNC]
- PPA1:inorganic pyrophosphatase 1 [Gene - OMIM - HGNC]
- KIFBP:kinesin family binding protein [Gene - OMIM - HGNC]
- LRMDA:leucine rich melanocyte differentiation associated [Gene - OMIM - HGNC]
- LRRC20:leucine rich repeat containing 20 [Gene - HGNC]
- LINC02622:long intergenic non-protein coding RNA 2622 [Gene - HGNC]
- LINC02636:long intergenic non-protein coding RNA 2636 [Gene - HGNC]
- LINC02651:long intergenic non-protein coding RNA 2651 [Gene - HGNC]
- LINC00595:long intergenic non-protein coding RNA 595 [Gene - HGNC]
- LINC00856:long intergenic non-protein coding RNA 856 [Gene - HGNC]
- KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
- MACROH2A2:macroH2A.2 histone [Gene - OMIM - HGNC]
- MIR4676:microRNA 4676 [Gene - HGNC]
- MIR606:microRNA 606 [Gene - HGNC]
- MIR7151:microRNA 7151 [Gene - HGNC]
- MIR7152:microRNA 7152 [Gene - HGNC]
- MCU:mitochondrial calcium uniporter [Gene - OMIM - HGNC]
- MICU1:mitochondrial calcium uptake 1 [Gene - OMIM - HGNC]
- MRPS16:mitochondrial ribosomal protein S16 [Gene - OMIM - HGNC]
- MYPN:myopalladin [Gene - OMIM - HGNC]
- MYOZ1:myozenin 1 [Gene - OMIM - HGNC]
- NEUROG3:neurogenin 3 [Gene - OMIM - HGNC]
- NPFFR1:neuropeptide FF receptor 1 [Gene - OMIM - HGNC]
- NODAL:nodal growth differentiation factor [Gene - OMIM - HGNC]
- NUDT13:nudix hydrolase 13 [Gene - OMIM - HGNC]
- OIT3:oncoprotein induced transcript 3 [Gene - OMIM - HGNC]
- PPIF:peptidylprolyl isomerase F [Gene - OMIM - HGNC]
- PRF1:perforin 1 [Gene - OMIM - HGNC]
- PBLD:phenazine biosynthesis like protein domain containing [Gene - OMIM - HGNC]
- PALD1:phosphatase domain containing paladin 1 [Gene - OMIM - HGNC]
- PLA2G12B:phospholipase A2 group XIIB [Gene - OMIM - HGNC]
- PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]
- KCNMA1:potassium calcium-activated channel subfamily M alpha 1 [Gene - OMIM - HGNC]
- P4HA1:prolyl 4-hydroxylase subunit alpha 1 [Gene - OMIM - HGNC]
- PSAP:prosaposin [Gene - OMIM - HGNC]
- PPP3CB:protein phosphatase 3 catalytic subunit beta [Gene - OMIM - HGNC]
- PCBD1:pterin-4 alpha-carbinolamine dehydratase 1 [Gene - OMIM - HGNC]
- RPS24:ribosomal protein S24 [Gene - OMIM - HGNC]
- SAR1A:secretion associated Ras related GTPase 1A [Gene - OMIM - HGNC]
- SRGN:serglycin [Gene - OMIM - HGNC]
- SIRT1:sirtuin 1 [Gene - OMIM - HGNC]
- SNORD172:small nucleolar RNA, C/D box 172 [Gene - HGNC]
- SNORD98:small nucleolar RNA, C/D box 98 [Gene - HGNC]
- SNORA11F:small nucleolar RNA, H/ACA box 11F [Gene - HGNC]
- SLC25A16:solute carrier family 25 member 16 [Gene - OMIM - HGNC]
- SLC29A3:solute carrier family 29 member 3 [Gene - OMIM - HGNC]
- SGPL1:sphingosine-1-phosphate lyase 1 [Gene - OMIM - HGNC]
- SAMD8:sterile alpha motif domain containing 8 [Gene - OMIM - HGNC]
- STOX1:storkhead box 1 [Gene - OMIM - HGNC]
- SYNPO2L:synaptopodin 2 like [Gene - HGNC]
- TRS-TGA1-1:tRNA-Ser (anticodon TGA) 1-1 [Gene - HGNC]
- TACR2:tachykinin receptor 2 [Gene - OMIM - HGNC]
- TET1:tet methylcytosine dioxygenase 1 [Gene - OMIM - HGNC]
- TSPAN15:tetraspanin 15 [Gene - OMIM - HGNC]
- TBATA:thymus, brain and testes associated [Gene - OMIM - HGNC]
- TYSND1:trypsin like peroxisomal matrix peptidase 1 [Gene - OMIM - HGNC]
- USP54:ubiquitin specific peptidase 54 [Gene - HGNC]
- UNC5B:unc-5 netrin receptor B [Gene - OMIM - HGNC]
- LOC101928994:uncharacterized LOC101928994 [Gene]
- LOC101929165:uncharacterized LOC101929165 [Gene]
- LOC101929234:uncharacterized LOC101929234 [Gene]
- LOC102723439:uncharacterized LOC102723439 [Gene]
- LOC105378367:uncharacterized LOC105378367 [Gene]
- VCL:vinculin [Gene - OMIM - HGNC]
- VDAC2:voltage dependent anion channel 2 [Gene - OMIM - HGNC]
- ZCCHC24:zinc finger CCHC-type containing 24 [Gene - HGNC]
- ZMIZ1:zinc finger MIZ-type containing 1 [Gene - OMIM - HGNC]
- ZSWIM8:zinc finger SWIM-type containing 8 [Gene - OMIM - HGNC]
- ZNF503:zinc finger protein 503 [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 10q21.3-22.3
- Genomic location:
- Preferred name:
- GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3
- HGVS:
- NC_000010.11:g.(?_67196567)_(79422057_?)dup
- NC_000010.10:g.(?_68956325)_(81181813_?)dup
- NC_000010.9:g.(?_68626331)_(80851819_?)dup
This HGVS expression did not pass validation- Links:
- dbVar: nssv582286; dbVar: nsv529102
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000175137 | ISCA site 17
| no assertion criteria provided | Pathogenic (Jul 30, 2009) | not provided | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not provided | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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 17, SCV000175137.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not provided | yes | not provided | not provided | Discovery | 1 | not provided | not provided | not provided |
Last Updated: Oct 14, 2023