- This record was updated by the submitter. Please see the current version.
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 20, 2012
- 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:
- RCV000142967.5
Allele description
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3
- Genes:
- ADO:2-aminoethanethiol dioxygenase [Gene - OMIM - HGNC]
- ANK3-DT:ANK3 divergent transcript [Gene - HGNC]
- ANTXRL:ANTXR like [Gene - HGNC]
- A1CF:APOBEC1 complementation factor [Gene - OMIM - HGNC]
- ARHGAP22-IT1:ARHGAP22 intronic transcript 1 [Gene - HGNC]
- ARID5B:AT-rich interaction domain 5B [Gene - OMIM - HGNC]
- LOC130003699:ATAC-STARR-seq lymphoblastoid active region 3276 [Gene]
- LOC130003700:ATAC-STARR-seq lymphoblastoid active region 3277 [Gene]
- LOC130003701:ATAC-STARR-seq lymphoblastoid active region 3278 [Gene]
- LOC130003702:ATAC-STARR-seq lymphoblastoid active region 3279 [Gene]
- LOC130003704:ATAC-STARR-seq lymphoblastoid active region 3281 [Gene]
- LOC130003706:ATAC-STARR-seq lymphoblastoid active region 3282 [Gene]
- LOC130003707:ATAC-STARR-seq lymphoblastoid active region 3283 [Gene]
- LOC130003708:ATAC-STARR-seq lymphoblastoid active region 3284 [Gene]
- LOC130003709:ATAC-STARR-seq lymphoblastoid active region 3285 [Gene]
- LOC130003710:ATAC-STARR-seq lymphoblastoid active region 3286 [Gene]
- LOC130003722:ATAC-STARR-seq lymphoblastoid active region 3287 [Gene]
- LOC130003723:ATAC-STARR-seq lymphoblastoid active region 3288 [Gene]
- LOC130003726:ATAC-STARR-seq lymphoblastoid active region 3290 [Gene]
- LOC130003727:ATAC-STARR-seq lymphoblastoid active region 3291 [Gene]
- LOC130003728:ATAC-STARR-seq lymphoblastoid active region 3292 [Gene]
- LOC130003729:ATAC-STARR-seq lymphoblastoid active region 3293 [Gene]
- LOC130003731:ATAC-STARR-seq lymphoblastoid active region 3294 [Gene]
- LOC130003733:ATAC-STARR-seq lymphoblastoid active region 3295 [Gene]
- LOC130003735:ATAC-STARR-seq lymphoblastoid active region 3298 [Gene]
- LOC130003738:ATAC-STARR-seq lymphoblastoid active region 3300 [Gene]
- LOC130003741:ATAC-STARR-seq lymphoblastoid active region 3303 [Gene]
- LOC130003742:ATAC-STARR-seq lymphoblastoid active region 3304 [Gene]
- LOC130003746:ATAC-STARR-seq lymphoblastoid active region 3305 [Gene]
- LOC130003747:ATAC-STARR-seq lymphoblastoid active region 3306 [Gene]
- LOC130003748:ATAC-STARR-seq lymphoblastoid active region 3307 [Gene]
- LOC130003749:ATAC-STARR-seq lymphoblastoid active region 3311 [Gene]
- LOC130003750:ATAC-STARR-seq lymphoblastoid active region 3312 [Gene]
- LOC130003751:ATAC-STARR-seq lymphoblastoid active region 3313 [Gene]
- LOC130003754:ATAC-STARR-seq lymphoblastoid active region 3314 [Gene]
- LOC130003755:ATAC-STARR-seq lymphoblastoid active region 3315 [Gene]
- LOC130003756:ATAC-STARR-seq lymphoblastoid active region 3316 [Gene]
- LOC130003757:ATAC-STARR-seq lymphoblastoid active region 3317 [Gene]
- LOC130003758:ATAC-STARR-seq lymphoblastoid active region 3318 [Gene]
- LOC130003759:ATAC-STARR-seq lymphoblastoid active region 3319 [Gene]
- LOC130003761:ATAC-STARR-seq lymphoblastoid active region 3321 [Gene]
- LOC130003765:ATAC-STARR-seq lymphoblastoid active region 3322 [Gene]
- LOC130003768:ATAC-STARR-seq lymphoblastoid active region 3324 [Gene]
- LOC130003769:ATAC-STARR-seq lymphoblastoid active region 3325 [Gene]
- LOC130003773:ATAC-STARR-seq lymphoblastoid active region 3327 [Gene]
- LOC130003774:ATAC-STARR-seq lymphoblastoid active region 3328 [Gene]
- LOC130003775:ATAC-STARR-seq lymphoblastoid active region 3329 [Gene]
- LOC130003776:ATAC-STARR-seq lymphoblastoid active region 3330 [Gene]
- LOC130003779:ATAC-STARR-seq lymphoblastoid active region 3331 [Gene]
- LOC130003780:ATAC-STARR-seq lymphoblastoid active region 3332 [Gene]
- LOC130003781:ATAC-STARR-seq lymphoblastoid active region 3333 [Gene]
- LOC130003783:ATAC-STARR-seq lymphoblastoid active region 3334 [Gene]
- LOC130003785:ATAC-STARR-seq lymphoblastoid active region 3335 [Gene]
- LOC130003786:ATAC-STARR-seq lymphoblastoid active region 3336 [Gene]
- LOC130003787:ATAC-STARR-seq lymphoblastoid active region 3337 [Gene]
- LOC130003789:ATAC-STARR-seq lymphoblastoid active region 3338 [Gene]
- LOC130003790:ATAC-STARR-seq lymphoblastoid active region 3339 [Gene]
- LOC130003791:ATAC-STARR-seq lymphoblastoid active region 3340 [Gene]
- LOC130003792:ATAC-STARR-seq lymphoblastoid active region 3341 [Gene]
- LOC130003793:ATAC-STARR-seq lymphoblastoid active region 3342 [Gene]
- LOC130003794:ATAC-STARR-seq lymphoblastoid active region 3343 [Gene]
- LOC130003795:ATAC-STARR-seq lymphoblastoid active region 3344 [Gene]
- LOC130003796:ATAC-STARR-seq lymphoblastoid active region 3345 [Gene]
- LOC130003797:ATAC-STARR-seq lymphoblastoid active region 3346 [Gene]
- LOC130003798:ATAC-STARR-seq lymphoblastoid active region 3347 [Gene]
- LOC130003799:ATAC-STARR-seq lymphoblastoid active region 3348 [Gene]
- LOC130003800:ATAC-STARR-seq lymphoblastoid active region 3349 [Gene]
- LOC130003803:ATAC-STARR-seq lymphoblastoid active region 3350 [Gene]
- LOC130003804:ATAC-STARR-seq lymphoblastoid active region 3351 [Gene]
- LOC130003805:ATAC-STARR-seq lymphoblastoid active region 3352 [Gene]
- LOC130003807:ATAC-STARR-seq lymphoblastoid active region 3353 [Gene]
- LOC130003808:ATAC-STARR-seq lymphoblastoid active region 3354 [Gene]
- LOC130003810:ATAC-STARR-seq lymphoblastoid active region 3355 [Gene]
- LOC130003813:ATAC-STARR-seq lymphoblastoid active region 3356 [Gene]
- LOC130003814:ATAC-STARR-seq lymphoblastoid active region 3357 [Gene]
- LOC130003815:ATAC-STARR-seq lymphoblastoid active region 3358 [Gene]
- LOC130003816:ATAC-STARR-seq lymphoblastoid active region 3359 [Gene]
- LOC130003818:ATAC-STARR-seq lymphoblastoid active region 3360 [Gene]
- LOC130003819:ATAC-STARR-seq lymphoblastoid active region 3361 [Gene]
- LOC130003820:ATAC-STARR-seq lymphoblastoid active region 3362 [Gene]
- LOC130003821:ATAC-STARR-seq lymphoblastoid active region 3363 [Gene]
- LOC130003822:ATAC-STARR-seq lymphoblastoid active region 3364 [Gene]
- LOC130003824:ATAC-STARR-seq lymphoblastoid active region 3365 [Gene]
- LOC130003825:ATAC-STARR-seq lymphoblastoid active region 3366 [Gene]
- LOC130003828:ATAC-STARR-seq lymphoblastoid active region 3367 [Gene]
- LOC130003829:ATAC-STARR-seq lymphoblastoid active region 3368 [Gene]
- LOC130003830:ATAC-STARR-seq lymphoblastoid active region 3369 [Gene]
- LOC130003831:ATAC-STARR-seq lymphoblastoid active region 3370 [Gene]
- LOC130003832:ATAC-STARR-seq lymphoblastoid active region 3371 [Gene]
- LOC130003833:ATAC-STARR-seq lymphoblastoid active region 3372 [Gene]
- LOC130003834:ATAC-STARR-seq lymphoblastoid active region 3373 [Gene]
- LOC130003835:ATAC-STARR-seq lymphoblastoid active region 3374 [Gene]
- LOC130003836:ATAC-STARR-seq lymphoblastoid active region 3375 [Gene]
- LOC130003837:ATAC-STARR-seq lymphoblastoid active region 3376 [Gene]
- LOC130003838:ATAC-STARR-seq lymphoblastoid active region 3377 [Gene]
- LOC130003839:ATAC-STARR-seq lymphoblastoid active region 3378 [Gene]
- LOC130003840:ATAC-STARR-seq lymphoblastoid active region 3380 [Gene]
- LOC130003843:ATAC-STARR-seq lymphoblastoid active region 3382 [Gene]
- LOC130003846:ATAC-STARR-seq lymphoblastoid active region 3385 [Gene]
- LOC130003849:ATAC-STARR-seq lymphoblastoid active region 3386 [Gene]
- LOC130003850:ATAC-STARR-seq lymphoblastoid active region 3387 [Gene]
- LOC130003854:ATAC-STARR-seq lymphoblastoid active region 3388 [Gene]
- LOC130003855:ATAC-STARR-seq lymphoblastoid active region 3389 [Gene]
- LOC130003856:ATAC-STARR-seq lymphoblastoid active region 3390 [Gene]
- LOC130003858:ATAC-STARR-seq lymphoblastoid active region 3391 [Gene]
- LOC130003861:ATAC-STARR-seq lymphoblastoid active region 3392 [Gene]
- LOC130003862:ATAC-STARR-seq lymphoblastoid active region 3393 [Gene]
- LOC130003863:ATAC-STARR-seq lymphoblastoid active region 3394 [Gene]
- LOC130003868:ATAC-STARR-seq lymphoblastoid active region 3395 [Gene]
- LOC130003869:ATAC-STARR-seq lymphoblastoid active region 3396 [Gene]
- LOC130003870:ATAC-STARR-seq lymphoblastoid active region 3397 [Gene]
- LOC130003871:ATAC-STARR-seq lymphoblastoid active region 3398 [Gene]
- LOC130003874:ATAC-STARR-seq lymphoblastoid active region 3399 [Gene]
- LOC130003875:ATAC-STARR-seq lymphoblastoid active region 3400 [Gene]
- LOC130003876:ATAC-STARR-seq lymphoblastoid active region 3401 [Gene]
- LOC130003877:ATAC-STARR-seq lymphoblastoid active region 3402 [Gene]
- LOC130003878:ATAC-STARR-seq lymphoblastoid active region 3403 [Gene]
- LOC130003879:ATAC-STARR-seq lymphoblastoid active region 3404 [Gene]
- LOC130003880:ATAC-STARR-seq lymphoblastoid active region 3405 [Gene]
- LOC130003881:ATAC-STARR-seq lymphoblastoid active region 3406 [Gene]
- LOC130003882:ATAC-STARR-seq lymphoblastoid active region 3407 [Gene]
- LOC130003883:ATAC-STARR-seq lymphoblastoid active region 3408 [Gene]
- LOC130003884:ATAC-STARR-seq lymphoblastoid active region 3410 [Gene]
- LOC130003885:ATAC-STARR-seq lymphoblastoid active region 3411 [Gene]
- LOC130003886:ATAC-STARR-seq lymphoblastoid active region 3412 [Gene]
- LOC130003888:ATAC-STARR-seq lymphoblastoid active region 3413 [Gene]
- LOC130003889:ATAC-STARR-seq lymphoblastoid active region 3414 [Gene]
- LOC130003891:ATAC-STARR-seq lymphoblastoid active region 3415 [Gene]
- LOC130003893:ATAC-STARR-seq lymphoblastoid active region 3416 [Gene]
- LOC130003894:ATAC-STARR-seq lymphoblastoid active region 3417 [Gene]
- LOC130003895:ATAC-STARR-seq lymphoblastoid active region 3418 [Gene]
- LOC130003896:ATAC-STARR-seq lymphoblastoid active region 3419 [Gene]
- LOC130003897:ATAC-STARR-seq lymphoblastoid active region 3420 [Gene]
- LOC130003898:ATAC-STARR-seq lymphoblastoid active region 3421 [Gene]
- LOC130003899:ATAC-STARR-seq lymphoblastoid active region 3422 [Gene]
- LOC130003900:ATAC-STARR-seq lymphoblastoid active region 3423 [Gene]
- LOC130003902:ATAC-STARR-seq lymphoblastoid active region 3424 [Gene]
- LOC130003903:ATAC-STARR-seq lymphoblastoid active region 3428 [Gene]
- LOC130003904:ATAC-STARR-seq lymphoblastoid active region 3429 [Gene]
- LOC130003906:ATAC-STARR-seq lymphoblastoid active region 3430 [Gene]
- LOC130003911:ATAC-STARR-seq lymphoblastoid active region 3432 [Gene]
- LOC130003912:ATAC-STARR-seq lymphoblastoid active region 3433 [Gene]
- LOC130003915:ATAC-STARR-seq lymphoblastoid active region 3434 [Gene]
- LOC130003916:ATAC-STARR-seq lymphoblastoid active region 3435 [Gene]
- LOC130003917:ATAC-STARR-seq lymphoblastoid active region 3436 [Gene]
- LOC130003918:ATAC-STARR-seq lymphoblastoid active region 3437 [Gene]
- LOC130003919:ATAC-STARR-seq lymphoblastoid active region 3440 [Gene]
- LOC130003920:ATAC-STARR-seq lymphoblastoid active region 3441 [Gene]
- LOC130003922:ATAC-STARR-seq lymphoblastoid active region 3442 [Gene]
- LOC130003923:ATAC-STARR-seq lymphoblastoid active region 3443 [Gene]
- LOC130003924:ATAC-STARR-seq lymphoblastoid active region 3444 [Gene]
- LOC130003928:ATAC-STARR-seq lymphoblastoid active region 3445 [Gene]
- LOC130003929:ATAC-STARR-seq lymphoblastoid active region 3446 [Gene]
- LOC130003930:ATAC-STARR-seq lymphoblastoid active region 3447 [Gene]
- LOC130003931:ATAC-STARR-seq lymphoblastoid active region 3448 [Gene]
- LOC130003703:ATAC-STARR-seq lymphoblastoid silent region 2311 [Gene]
- LOC130003705:ATAC-STARR-seq lymphoblastoid silent region 2313 [Gene]
- LOC130003711:ATAC-STARR-seq lymphoblastoid silent region 2314 [Gene]
- LOC130003712:ATAC-STARR-seq lymphoblastoid silent region 2315 [Gene]
- LOC130003713:ATAC-STARR-seq lymphoblastoid silent region 2316 [Gene]
- LOC130003714:ATAC-STARR-seq lymphoblastoid silent region 2317 [Gene]
- LOC130003715:ATAC-STARR-seq lymphoblastoid silent region 2318 [Gene]
- LOC130003716:ATAC-STARR-seq lymphoblastoid silent region 2319 [Gene]
- LOC130003717:ATAC-STARR-seq lymphoblastoid silent region 2320 [Gene]
- LOC130003718:ATAC-STARR-seq lymphoblastoid silent region 2321 [Gene]
- LOC130003719:ATAC-STARR-seq lymphoblastoid silent region 2322 [Gene]
- LOC130003720:ATAC-STARR-seq lymphoblastoid silent region 2323 [Gene]
- LOC130003721:ATAC-STARR-seq lymphoblastoid silent region 2324 [Gene]
- LOC130003724:ATAC-STARR-seq lymphoblastoid silent region 2325 [Gene]
- LOC130003725:ATAC-STARR-seq lymphoblastoid silent region 2326 [Gene]
- LOC130003730:ATAC-STARR-seq lymphoblastoid silent region 2327 [Gene]
- LOC130003732:ATAC-STARR-seq lymphoblastoid silent region 2328 [Gene]
- LOC130003734:ATAC-STARR-seq lymphoblastoid silent region 2329 [Gene]
- LOC130003736:ATAC-STARR-seq lymphoblastoid silent region 2330 [Gene]
- LOC130003737:ATAC-STARR-seq lymphoblastoid silent region 2331 [Gene]
- LOC130003739:ATAC-STARR-seq lymphoblastoid silent region 2332 [Gene]
- LOC130003740:ATAC-STARR-seq lymphoblastoid silent region 2334 [Gene]
- LOC130003743:ATAC-STARR-seq lymphoblastoid silent region 2335 [Gene]
- LOC130003744:ATAC-STARR-seq lymphoblastoid silent region 2336 [Gene]
- LOC130003745:ATAC-STARR-seq lymphoblastoid silent region 2337 [Gene]
- LOC130003752:ATAC-STARR-seq lymphoblastoid silent region 2339 [Gene]
- LOC130003753:ATAC-STARR-seq lymphoblastoid silent region 2340 [Gene]
- LOC130003760:ATAC-STARR-seq lymphoblastoid silent region 2342 [Gene]
- LOC130003762:ATAC-STARR-seq lymphoblastoid silent region 2344 [Gene]
- LOC130003763:ATAC-STARR-seq lymphoblastoid silent region 2345 [Gene]
- LOC130003764:ATAC-STARR-seq lymphoblastoid silent region 2346 [Gene]
- LOC130003766:ATAC-STARR-seq lymphoblastoid silent region 2347 [Gene]
- LOC130003767:ATAC-STARR-seq lymphoblastoid silent region 2350 [Gene]
- LOC130003770:ATAC-STARR-seq lymphoblastoid silent region 2351 [Gene]
- LOC130003771:ATAC-STARR-seq lymphoblastoid silent region 2352 [Gene]
- LOC130003772:ATAC-STARR-seq lymphoblastoid silent region 2353 [Gene]
- LOC130003777:ATAC-STARR-seq lymphoblastoid silent region 2355 [Gene]
- LOC130003778:ATAC-STARR-seq lymphoblastoid silent region 2356 [Gene]
- LOC130003782:ATAC-STARR-seq lymphoblastoid silent region 2358 [Gene]
- LOC130003784:ATAC-STARR-seq lymphoblastoid silent region 2359 [Gene]
- LOC130003788:ATAC-STARR-seq lymphoblastoid silent region 2360 [Gene]
- LOC130003801:ATAC-STARR-seq lymphoblastoid silent region 2361 [Gene]
- LOC130003802:ATAC-STARR-seq lymphoblastoid silent region 2362 [Gene]
- LOC130003806:ATAC-STARR-seq lymphoblastoid silent region 2363 [Gene]
- LOC130003809:ATAC-STARR-seq lymphoblastoid silent region 2364 [Gene]
- LOC130003811:ATAC-STARR-seq lymphoblastoid silent region 2365 [Gene]
- LOC130003812:ATAC-STARR-seq lymphoblastoid silent region 2366 [Gene]
- LOC130003817:ATAC-STARR-seq lymphoblastoid silent region 2367 [Gene]
- LOC130003823:ATAC-STARR-seq lymphoblastoid silent region 2368 [Gene]
- LOC130003826:ATAC-STARR-seq lymphoblastoid silent region 2369 [Gene]
- LOC130003827:ATAC-STARR-seq lymphoblastoid silent region 2371 [Gene]
- LOC130003841:ATAC-STARR-seq lymphoblastoid silent region 2372 [Gene]
- LOC130003842:ATAC-STARR-seq lymphoblastoid silent region 2373 [Gene]
- LOC130003844:ATAC-STARR-seq lymphoblastoid silent region 2375 [Gene]
- LOC130003845:ATAC-STARR-seq lymphoblastoid silent region 2377 [Gene]
- LOC130003847:ATAC-STARR-seq lymphoblastoid silent region 2380 [Gene]
- LOC130003848:ATAC-STARR-seq lymphoblastoid silent region 2381 [Gene]
- LOC130003851:ATAC-STARR-seq lymphoblastoid silent region 2382 [Gene]
- LOC130003852:ATAC-STARR-seq lymphoblastoid silent region 2383 [Gene]
- LOC130003853:ATAC-STARR-seq lymphoblastoid silent region 2384 [Gene]
- LOC130003857:ATAC-STARR-seq lymphoblastoid silent region 2385 [Gene]
- LOC130003859:ATAC-STARR-seq lymphoblastoid silent region 2386 [Gene]
- LOC130003860:ATAC-STARR-seq lymphoblastoid silent region 2387 [Gene]
- LOC130003864:ATAC-STARR-seq lymphoblastoid silent region 2388 [Gene]
- LOC130003865:ATAC-STARR-seq lymphoblastoid silent region 2389 [Gene]
- LOC130003866:ATAC-STARR-seq lymphoblastoid silent region 2390 [Gene]
- LOC130003867:ATAC-STARR-seq lymphoblastoid silent region 2391 [Gene]
- LOC130003872:ATAC-STARR-seq lymphoblastoid silent region 2393 [Gene]
- LOC130003873:ATAC-STARR-seq lymphoblastoid silent region 2394 [Gene]
- LOC130003887:ATAC-STARR-seq lymphoblastoid silent region 2395 [Gene]
- LOC130003890:ATAC-STARR-seq lymphoblastoid silent region 2396 [Gene]
- LOC130003892:ATAC-STARR-seq lymphoblastoid silent region 2397 [Gene]
- LOC130003901:ATAC-STARR-seq lymphoblastoid silent region 2398 [Gene]
- LOC130003905:ATAC-STARR-seq lymphoblastoid silent region 2399 [Gene]
- LOC130003907:ATAC-STARR-seq lymphoblastoid silent region 2400 [Gene]
- LOC130003908:ATAC-STARR-seq lymphoblastoid silent region 2401 [Gene]
- LOC130003909:ATAC-STARR-seq lymphoblastoid silent region 2402 [Gene]
- LOC130003910:ATAC-STARR-seq lymphoblastoid silent region 2404 [Gene]
- LOC130003913:ATAC-STARR-seq lymphoblastoid silent region 2405 [Gene]
- LOC130003914:ATAC-STARR-seq lymphoblastoid silent region 2406 [Gene]
- LOC130003921:ATAC-STARR-seq lymphoblastoid silent region 2409 [Gene]
- LOC130003925:ATAC-STARR-seq lymphoblastoid silent region 2410 [Gene]
- LOC130003926:ATAC-STARR-seq lymphoblastoid silent region 2411 [Gene]
- LOC130003927:ATAC-STARR-seq lymphoblastoid silent region 2412 [Gene]
- AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
- AGAP4:ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 [Gene - HGNC]
- AGAP6:ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 [Gene - HGNC]
- AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
- BMS1:BMS1 ribosome biogenesis factor [Gene - OMIM - HGNC]
- LOC126860929:BRD4-independent group 4 enhancer GRCh37_chr10:48324479-48325678 [Gene]
- LOC126860930:BRD4-independent group 4 enhancer GRCh37_chr10:49394772-49395971 [Gene]
- LOC126860933:BRD4-independent group 4 enhancer GRCh37_chr10:50679962-50681161 [Gene]
- LOC126860937:BRD4-independent group 4 enhancer GRCh37_chr10:58297350-58298549 [Gene]
- LOC126860943:BRD4-independent group 4 enhancer GRCh37_chr10:63810242-63811441 [Gene]
- LOC126860945:BRD4-independent group 4 enhancer GRCh37_chr10:64414839-64416038 [Gene]
- BICC1:BicC family RNA binding protein 1 [Gene - OMIM - HGNC]
- CXCL12:C-X-C motif chemokine ligand 12 [Gene - OMIM - HGNC]
- C10orf71-AS1:C10orf71 antisense RNA 1 [Gene - HGNC]
- CISD1:CDGSH iron sulfur domain 1 [Gene - OMIM - HGNC]
- LOC126860920:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:44141084-44142283 [Gene]
- LOC126860926:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:45958734-45959933 [Gene]
- LOC126860928:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48473688-48474887 [Gene]
- LOC126860927:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48600992-48602191 [Gene]
- LOC126860932:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:50543527-50544726 [Gene]
- LOC126860935:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:54258936-54260135 [Gene]
- LOC126860936:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:58118905-58120104 [Gene]
- LOC126860940:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:60679234-60680433 [Gene]
- LOC126860941:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63169609-63170808 [Gene]
- LOC126860942:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63541146-63542345 [Gene]
- LOC126860944:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:64143375-64144574 [Gene]
- LOC126860948:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:68197862-68199061 [Gene]
- LOC116216113:CRISPRi-validated cis-regulatory element chr10.1925 [Gene]
- CSGALNACT2-DT:CSGALNACT2 divergent transcript [Gene - HGNC]
- DEPP1:DEPP autophagy regulator 1 [Gene - OMIM - HGNC]
- ERCC6:ERCC excision repair 6, chromatin remodeling factor [Gene - OMIM - HGNC]
- FAM170B-AS1:FAM170B antisense RNA 1 [Gene - HGNC]
- FRMPD2:FERM and PDZ domain containing 2 [Gene - OMIM - HGNC]
- FXYD4:FXYD domain containing ion transport regulator 4 [Gene - OMIM - HGNC]
- GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
- JMJD1C-AS1:JMJD1C antisense RNA 1 [Gene - HGNC]
- JMJD1C-AS2:JMJD1C antisense RNA 2 [Gene - HGNC]
- LOC126860921:MED14-independent group 3 enhancer GRCh37_chr10:44664362-44665561 [Gene]
- LOC126860923:MED14-independent group 3 enhancer GRCh37_chr10:44972894-44974093 [Gene]
- LOC126860924:MED14-independent group 3 enhancer GRCh37_chr10:45123875-45125074 [Gene]
- LOC126860925:MED14-independent group 3 enhancer GRCh37_chr10:45933181-45934380 [Gene]
- LOC126860931:MED14-independent group 3 enhancer GRCh37_chr10:50156438-50157637 [Gene]
- LOC126860938:MED14-independent group 3 enhancer GRCh37_chr10:60566642-60567841 [Gene]
- LOC126860939:MED14-independent group 3 enhancer GRCh37_chr10:60615945-60617144 [Gene]
- LOC126860947:MED14-independent group 3 enhancer GRCh37_chr10:67374664-67375863 [Gene]
- LOC129390166:MPRA-validated peak936 silencer [Gene]
- LOC129390167:MPRA-validated peak937 silencer [Gene]
- LOC129390168:MPRA-validated peak938 silencer [Gene]
- LOC129390169:MPRA-validated peak939 silencer [Gene]
- LOC129390170:MPRA-validated peak944 silencer [Gene]
- LOC129390171:MPRA-validated peak951 silencer [Gene]
- LOC129390172:MPRA-validated peak953 silencer [Gene]
- LOC129390173:MPRA-validated peak956 silencer [Gene]
- LOC129390174:MPRA-validated peak957 silencer [Gene]
- LOC129390175:MPRA-validated peak958 silencer [Gene]
- LOC129390176:MPRA-validated peak959 silencer [Gene]
- LOC129390177:MPRA-validated peak963 silencer [Gene]
- LOC129390178:MPRA-validated peak967 silencer [Gene]
- LOC129390179:MPRA-validated peak969 silencer [Gene]
- LOC129390180:MPRA-validated peak971 silencer [Gene]
- LOC129390181:MPRA-validated peak972 silencer [Gene]
- LOC129390182:MPRA-validated peak974 silencer [Gene]
- LOC129390183:MPRA-validated peak975 silencer [Gene]
- LOC129390184:MPRA-validated peak978 silencer [Gene]
- LOC129390185:MPRA-validated peak981 silencer [Gene]
- LOC129390186:MPRA-validated peak982 silencer [Gene]
- LOC129390187:MPRA-validated peak984 silencer [Gene]
- MTRNR2L5:MT-RNR2 like 5 [Gene - HGNC]
- ASAH2:N-acylsphingosine amidohydrolase 2 [Gene - OMIM - HGNC]
- ASAH2B:N-acylsphingosine amidohydrolase 2B [Gene - OMIM - HGNC]
- LOC132089774:Neanderthal introgressed variant-containing enhancer experimental_12290 [Gene]
- LOC132089775:Neanderthal introgressed variant-containing enhancer experimental_12309 [Gene]
- LOC132089776:Neanderthal introgressed variant-containing enhancer experimental_12364 [Gene]
- LOC132089777:Neanderthal introgressed variant-containing enhancer experimental_12372 [Gene]
- LOC132090807:Neanderthal introgressed variant-containing enhancer experimental_12424 [Gene]
- LOC132090808:Neanderthal introgressed variant-containing enhancer experimental_12499 [Gene]
- LOC132090809:Neanderthal introgressed variant-containing enhancer experimental_12564 [Gene]
- LOC132089778:Neanderthal introgressed variant-containing enhancer experimental_12586 [Gene]
- LOC132089779:Neanderthal introgressed variant-containing enhancer experimental_12630 [Gene]
- LOC132089780:Neanderthal introgressed variant-containing enhancer experimental_12643 [Gene]
- LOC132089781:Neanderthal introgressed variant-containing enhancer experimental_12798 [Gene]
- LOC132089782:Neanderthal introgressed variant-containing enhancer experimental_12804 [Gene]
- LOC132089783:Neanderthal introgressed variant-containing enhancer experimental_12892 [Gene]
- LOC132090810:Neanderthal introgressed variant-containing enhancer experimental_12920 [Gene]
- LOC132089784:Neanderthal introgressed variant-containing enhancer experimental_13072 [Gene]
- LOC132089791:Neanderthal introgressed variant-containing enhancer experimental_13381 [Gene]
- LOC132089793:Neanderthal introgressed variant-containing enhancer experimental_13587 [Gene]
- LOC132089794:Neanderthal introgressed variant-containing enhancer experimental_13605 [Gene]
- LOC132090811:Neanderthal introgressed variant-containing enhancer experimental_13640 [Gene]
- LOC132089795:Neanderthal introgressed variant-containing enhancer experimental_13669 [Gene]
- LOC132089796:Neanderthal introgressed variant-containing enhancer experimental_13680 [Gene]
- LOC132089797:Neanderthal introgressed variant-containing enhancer experimental_13703 [Gene]
- LOC132089798:Neanderthal introgressed variant-containing enhancer experimental_13731 [Gene]
- LOC132089799:Neanderthal introgressed variant-containing enhancer experimental_13913 [Gene]
- LOC132090812:Neanderthal introgressed variant-containing enhancer experimental_14056 [Gene]
- LOC132089801:Neanderthal introgressed variant-containing enhancer experimental_14069 [Gene]
- LOC132089804:Neanderthal introgressed variant-containing enhancer experimental_14285 [Gene]
- LOC132089805:Neanderthal introgressed variant-containing enhancer experimental_14356 [Gene]
- LOC132089806:Neanderthal introgressed variant-containing enhancer experimental_14377 [Gene]
- LOC132089807:Neanderthal introgressed variant-containing enhancer experimental_14431 [Gene]
- LOC132089808:Neanderthal introgressed variant-containing enhancer experimental_14444 [Gene]
- LOC132089809:Neanderthal introgressed variant-containing enhancer experimental_14489 [Gene]
- LOC132089810:Neanderthal introgressed variant-containing enhancer experimental_14563 [Gene]
- LOC132089811:Neanderthal introgressed variant-containing enhancer experimental_14639 [Gene]
- LOC132090813:Neanderthal introgressed variant-containing enhancer experimental_14760 [Gene]
- LOC132089812:Neanderthal introgressed variant-containing enhancer experimental_14780 [Gene]
- LOC132089813:Neanderthal introgressed variant-containing enhancer experimental_14849 [Gene]
- LOC132090814:Neanderthal introgressed variant-containing enhancer experimental_15152 [Gene]
- LOC132089814:Neanderthal introgressed variant-containing enhancer experimental_15172 [Gene]
- LOC132089815:Neanderthal introgressed variant-containing enhancer experimental_15180 [Gene]
- LOC132089816:Neanderthal introgressed variant-containing enhancer experimental_15277 [Gene]
- LOC132089817:Neanderthal introgressed variant-containing enhancer experimental_15319 [Gene]
- LOC132089818:Neanderthal introgressed variant-containing enhancer experimental_15324 [Gene]
- LOC132089819:Neanderthal introgressed variant-containing enhancer experimental_15354 [Gene]
- LOC132089820:Neanderthal introgressed variant-containing enhancer experimental_15439 [Gene]
- LOC132089821:Neanderthal introgressed variant-containing enhancer experimental_15446 [Gene]
- LOC132089822:Neanderthal introgressed variant-containing enhancer experimental_15534 [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]
- LOC132211101:Neanderthal introgressed variant-containing enhancers experimental_13720/13722 and experimental_13723 [Gene]
- LOC126860919:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:43655229-43656428 [Gene]
- LOC126860922:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:44796158-44797357 [Gene]
- LOC126860934:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:54078024-54079223 [Gene]
- LOC126860946:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:65466673-65467872 [Gene]
- PRKG1-AS1:PRKG1 antisense RNA 1 [Gene - HGNC]
- LOC106736614:RET 5' regulatory region [Gene]
- MCS+9.7:RET intron 1 enhancer [Gene]
- RASSF4:Ras association domain family member 4 [Gene - OMIM - HGNC]
- RASGEF1A:RasGEF domain family member 1A [Gene - OMIM - HGNC]
- ARHGAP22:Rho GTPase activating protein 22 [Gene - OMIM - HGNC]
- RHOBTB1:Rho related BTB domain containing 1 [Gene - OMIM - HGNC]
- SGMS1-AS1:SGMS1 antisense RNA 1 [Gene - HGNC]
- SYT15-AS1:SYT15 antisense RNA 1 [Gene - HGNC]
- LOC124403948:Sharpr-MPRA regulatory region 10026 [Gene]
- LOC124403943:Sharpr-MPRA regulatory region 10386 [Gene]
- LOC111946244:Sharpr-MPRA regulatory region 10440 [Gene]
- LOC111946243:Sharpr-MPRA regulatory region 10647 [Gene]
- LOC124403954:Sharpr-MPRA regulatory region 10759 [Gene]
- LOC121815940:Sharpr-MPRA regulatory region 11473 [Gene]
- LOC121815942:Sharpr-MPRA regulatory region 11943 [Gene]
- LOC121811730:Sharpr-MPRA regulatory region 11970 [Gene]
- LOC124403945:Sharpr-MPRA regulatory region 12153 [Gene]
- LOC124403950:Sharpr-MPRA regulatory region 12210 [Gene]
- LOC124403955:Sharpr-MPRA regulatory region 12597 [Gene]
- LOC124403944:Sharpr-MPRA regulatory region 13348 [Gene]
- LOC124403963:Sharpr-MPRA regulatory region 13978 [Gene]
- LOC124403952:Sharpr-MPRA regulatory region 14185 [Gene]
- LOC121366056:Sharpr-MPRA regulatory region 14495 [Gene]
- LOC124403970:Sharpr-MPRA regulatory region 14987 [Gene]
- LOC121366055:Sharpr-MPRA regulatory region 2186 [Gene]
- LOC111946238:Sharpr-MPRA regulatory region 2327 [Gene]
- LOC121366057:Sharpr-MPRA regulatory region 2403 [Gene]
- LOC124403953:Sharpr-MPRA regulatory region 2427 [Gene]
- LOC124403957:Sharpr-MPRA regulatory region 2630 [Gene]
- LOC121366053:Sharpr-MPRA regulatory region 2638 [Gene]
- LOC124403946:Sharpr-MPRA regulatory region 2960 [Gene]
- LOC113939916:Sharpr-MPRA regulatory region 3429 [Gene]
- LOC121815941:Sharpr-MPRA regulatory region 3861 [Gene]
- LOC124403960:Sharpr-MPRA regulatory region 3982 [Gene]
- LOC111946248:Sharpr-MPRA regulatory region 4517 [Gene]
- LOC111946240:Sharpr-MPRA regulatory region 4601 [Gene]
- LOC121366051:Sharpr-MPRA regulatory region 4830 [Gene]
- LOC124403958:Sharpr-MPRA regulatory region 495 [Gene]
- LOC124403961:Sharpr-MPRA regulatory region 5027 [Gene]
- LOC124403966:Sharpr-MPRA regulatory region 5662 [Gene]
- LOC124403951:Sharpr-MPRA regulatory region 5880 [Gene]
- LOC121366052:Sharpr-MPRA regulatory region 5969 [Gene]
- LOC124403962:Sharpr-MPRA regulatory region 6107 [Gene]
- LOC111946249:Sharpr-MPRA regulatory region 6196 [Gene]
- LOC124403956:Sharpr-MPRA regulatory region 685 [Gene]
- LOC124403959:Sharpr-MPRA regulatory region 6982 [Gene]
- LOC121366050:Sharpr-MPRA regulatory region 7362 [Gene]
- LOC111946247:Sharpr-MPRA regulatory region 7957 [Gene]
- LOC111946239:Sharpr-MPRA regulatory region 8316 [Gene]
- LOC124403949:Sharpr-MPRA regulatory region 8752 [Gene]
- LOC124403969:Sharpr-MPRA regulatory region 9231 [Gene]
- LOC111946237:Sharpr-MPRA regulatory region 9590 [Gene]
- LOC124403968:Sharpr-MPRA regulatory region 9742 [Gene]
- LOC124403967:Sharpr-MPRA regulatory region 9763 [Gene]
- LOC121815939:Sharpr-MPRA regulatory region 9892 [Gene]
- LOC121366054:Sharpr-MPRA regulatory regions 2667 and 7132 [Gene]
- LOC111818966:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 1 [Gene]
- LOC111818967:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 2 [Gene]
- TIMM23B-AGAP6:TIMM23B-AGAP6 readthrough (NMD candidate) [Gene - HGNC]
- TMEM26-AS1:TMEM26 antisense RNA 1 [Gene - HGNC]
- TMEM72-AS1:TMEM72 antisense RNA 1 [Gene - HGNC]
- VSTM4:V-set and transmembrane domain containing 4 [Gene - HGNC]
- LOC110121478:VISTA enhancer hs2065 [Gene]
- LOC110121502:VISTA enhancer hs2326 [Gene]
- LOC110121503:VISTA enhancer hs2327 [Gene]
- LOC110121506:VISTA enhancer hs2497 [Gene]
- LOC110121507:VISTA enhancer hs2498 [Gene]
- LOC114827857:VISTA enhancer hs2509 [Gene]
- WASHC2A:WASH complex subunit 2A [Gene - HGNC]
- WASHC2C:WASH complex subunit 2C [Gene - OMIM - HGNC]
- WDFY4:WDFY family member 4 [Gene - OMIM - HGNC]
- ZNF22-AS1:ZNF22 antisense RNA 1 [Gene - HGNC]
- ZNF32-AS1:ZNF32 antisense RNA 1 [Gene - HGNC]
- ZNF32-AS2:ZNF32 antisense RNA 2 [Gene - HGNC]
- ZNF32-AS3:ZNF32 antisense RNA 3 [Gene - HGNC]
- ZWINT:ZW10 interacting kinetochore protein [Gene - OMIM - HGNC]
- ANK3:ankyrin 3 [Gene - OMIM - HGNC]
- ANXA8L1:annexin A8 like 1 [Gene - HGNC]
- ANXA8:annexin A8 [Gene - OMIM - HGNC]
- ALOX5:arachidonate 5-lipoxygenase [Gene - OMIM - HGNC]
- CTNNA3:catenin alpha 3 [Gene - OMIM - HGNC]
- CCEPR:cervical carcinoma expressed PCNA regulatory lncRNA [Gene - HGNC]
- CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
- CSGALNACT2:chondroitin sulfate N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
- C10orf53:chromosome 10 open reading frame 53 [Gene - HGNC]
- C10orf71:chromosome 10 open reading frame 71 [Gene - HGNC]
- CABCOCO1:ciliary associated calcium binding coiled-coil 1 [Gene - HGNC]
- CSTF2T:cleavage stimulation factor subunit 2 tau variant [Gene - OMIM - HGNC]
- CCDC6:coiled-coil domain containing 6 [Gene - OMIM - HGNC]
- CDK1:cyclin dependent kinase 1 [Gene - OMIM - HGNC]
- DKK1:dickkopf WNT signaling pathway inhibitor 1 [Gene - OMIM - HGNC]
- DRGX:dorsal root ganglia homeobox [Gene - OMIM - HGNC]
- EGR2:early growth response 2 [Gene - OMIM - HGNC]
- FAM13C:family with sequence similarity 13 member C [Gene - HGNC]
- FAM170B:family with sequence similarity 170 member B [Gene - HGNC]
- FAM245B:family with sequence similarity 245 member B [Gene - HGNC]
- FAM25C:family with sequence similarity 25 member C [Gene - HGNC]
- FAM25E:family with sequence similarity 25 member E [Gene - HGNC]
- FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
- GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
- GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
- HNRNPF:heterogeneous nuclear ribonucleoprotein F [Gene - OMIM - HGNC]
- IPMK:inositol polyphosphate multikinase [Gene - OMIM - HGNC]
- JMJD1C:jumonji domain containing 1C [Gene - OMIM - HGNC]
- LRRC18:leucine rich repeat containing 18 [Gene - OMIM - HGNC]
- LRRTM3:leucine rich repeat transmembrane neuronal 3 [Gene - OMIM - HGNC]
- LNCAROD:lncRNA activating regulator of DKK1 [Gene - HGNC]
- LINC01264:long intergenic non-protein coding RNA 1264 [Gene - HGNC]
- LINC01515:long intergenic non-protein coding RNA 1515 [Gene - HGNC]
- LINC01518:long intergenic non-protein coding RNA 1518 [Gene - HGNC]
- LINC01553:long intergenic non-protein coding RNA 1553 [Gene - HGNC]
- LINC02621:long intergenic non-protein coding RNA 2621 [Gene - HGNC]
- LINC02623:long intergenic non-protein coding RNA 2623 [Gene - HGNC]
- LINC02632:long intergenic non-protein coding RNA 2632 [Gene - HGNC]
- LINC02637:long intergenic non-protein coding RNA 2637 [Gene - HGNC]
- LINC02658:long intergenic non-protein coding RNA 2658 [Gene - HGNC]
- LINC02659:long intergenic non-protein coding RNA 2659 [Gene - HGNC]
- LINC02671:long intergenic non-protein coding RNA 2671 [Gene - HGNC]
- LINC02672:long intergenic non-protein coding RNA 2672 [Gene - HGNC]
- LINC02881:long intergenic non-protein coding RNA 2881 [Gene - HGNC]
- LINC02916:long intergenic non-protein coding RNA 2916 [Gene - HGNC]
- LINC03029:long intergenic non-protein coding RNA 3029 [Gene - HGNC]
- LINC00619:long intergenic non-protein coding RNA 619 [Gene - HGNC]
- LINC00839:long intergenic non-protein coding RNA 839 [Gene - HGNC]
- LINC00840:long intergenic non-protein coding RNA 840 [Gene - HGNC]
- LINC00841:long intergenic non-protein coding RNA 841 [Gene - HGNC]
- LINC00842:long intergenic non-protein coding RNA 842 [Gene - HGNC]
- LINC00844:long intergenic non-protein coding RNA 844 [Gene - HGNC]
- LINC00845:long intergenic non-protein coding RNA 845 [Gene - HGNC]
- MBL2:mannose binding lectin 2 [Gene - OMIM - HGNC]
- MARCHF8:membrane associated ring-CH-type finger 8 [Gene - OMIM - HGNC]
- MIR1296:microRNA 1296 [Gene - HGNC]
- MIR3156-1:microRNA 3156-1 [Gene - HGNC]
- MIR3924:microRNA 3924 [Gene - HGNC]
- MIR4294:microRNA 4294 [Gene - HGNC]
- MIR5100:microRNA 5100 [Gene - HGNC]
- MIR548F1:microRNA 548f-1 [Gene - HGNC]
- MIR605:microRNA 605 [Gene - HGNC]
- MSMB:microseminoprotein beta [Gene - OMIM - HGNC]
- MAPK8:mitogen-activated protein kinase 8 [Gene - OMIM - HGNC]
- MRLN:myoregulin [Gene - OMIM - HGNC]
- NPY4R2:neuropeptide Y receptor Y4-2 [Gene - HGNC]
- NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
- NRBF2:nuclear receptor binding factor 2 [Gene - OMIM - HGNC]
- NCOA4:nuclear receptor coactivator 4 [Gene - OMIM - HGNC]
- OR13A1:olfactory receptor family 13 subfamily A member 1 [Gene - HGNC]
- OGDHL:oxoglutarate dehydrogenase L [Gene - OMIM - HGNC]
- PHYHIPL:phytanoyl-CoA 2-hydroxylase interacting protein like [Gene - HGNC]
- PGBD3:piggyBac transposable element derived 3 [Gene - HGNC]
- PARG:poly(ADP-ribose) glycohydrolase [Gene - OMIM - HGNC]
- PRKG1:protein kinase cGMP-dependent 1 [Gene - OMIM - HGNC]
- PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
- PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
- REEP3:receptor accessory protein 3 [Gene - OMIM - HGNC]
- RET:ret proto-oncogene [Gene - OMIM - HGNC]
- RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
- RTKN2:rhotekin 2 [Gene - OMIM - HGNC]
- SNORD3J:small nucleolar RNA, C/D box 3J [Gene - HGNC]
- SNORA74C-1:small nucleolar RNA, H/ACA box 74C-1 [Gene - HGNC]
- SNORA74C-2:small nucleolar RNA, H/ACA box 74C-2 [Gene - HGNC]
- SLC16A9:solute carrier family 16 member 9 [Gene - OMIM - HGNC]
- SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]
- SGMS1:sphingomyelin synthase 1 [Gene - OMIM - HGNC]
- SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
- SYT15B:synaptotagmin 15B [Gene - HGNC]
- TFAM:transcription factor A, mitochondrial [Gene - OMIM - HGNC]
- TIMM23B:translocase of inner mitochondrial membrane 23 homolog B [Gene - HGNC]
- TIMM23:translocase of inner mitochondrial membrane 23 [Gene - OMIM - HGNC]
- TMEM26:transmembrane protein 26 [Gene - OMIM - HGNC]
- TMEM273:transmembrane protein 273 [Gene - HGNC]
- TMEM72:transmembrane protein 72 [Gene - HGNC]
- UBE2D1:ubiquitin conjugating enzyme E2 D1 [Gene - OMIM - HGNC]
- LOC101928961:uncharacterized LOC101928961 [Gene]
- LOC102724323:uncharacterized LOC102724323 [Gene]
- LOC102724593:uncharacterized LOC102724593 [Gene]
- LOC102724719:uncharacterized LOC102724719 [Gene]
- LOC105378269:uncharacterized LOC105378269 [Gene]
- LOC105378289:uncharacterized LOC105378289 [Gene]
- LOC105378305:uncharacterized LOC105378305 [Gene]
- LOC105378311:uncharacterized LOC105378311 [Gene]
- LOC105378328:uncharacterized LOC105378328 [Gene]
- LOC105378577:uncharacterized LOC105378577 [Gene]
- LOC107001062:uncharacterized LOC107001062 [Gene]
- LOC107984236:uncharacterized LOC107984236 [Gene]
- LOC112268068:uncharacterized LOC112268068 [Gene]
- LOC283028:uncharacterized LOC283028 [Gene]
- LOC283045:uncharacterized LOC283045 [Gene]
- ZFAND4:zinc finger AN1-type containing 4 [Gene - HGNC]
- ZNF22:zinc finger protein 22 [Gene - OMIM - HGNC]
- ZNF239:zinc finger protein 239 [Gene - OMIM - HGNC]
- ZNF32:zinc finger protein 32 [Gene - OMIM - HGNC]
- ZNF33B:zinc finger protein 33B [Gene - OMIM - HGNC]
- ZNF365:zinc finger protein 365 [Gene - OMIM - HGNC]
- ZNF485:zinc finger protein 485 [Gene - HGNC]
- ZNF487:zinc finger protein 487 [Gene - HGNC]
- ZNF488:zinc finger protein 488 [Gene - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 10q11.21-21.3
- Genomic location:
- Preferred name:
- GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3
- HGVS:
- NC_000010.11:g.(?_42112187)_(67400675_?)dup
- NC_000010.10:g.(?_42607635)_(69160433_?)dup
- NC_000010.9:g.(?_41927641)_(68830439_?)dup
This HGVS expression did not pass validation- Links:
- dbVar: nssv1602735; dbVar: nsv916485
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
-
CHURC1-FNTB protein isoform 2 [Homo sapiens]
CHURC1-FNTB protein isoform 2 [Homo sapiens]gi|321400144|ref|NP_001189487.1|Protein
-
ATP8 [Clinostomus elongatus]
ATP8 [Clinostomus elongatus]Gene ID:29994115Gene
-
ND4L [Clinostomus elongatus]
ND4L [Clinostomus elongatus]Gene ID:29994117Gene
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000179605 | ISCA site 1
| no assertion criteria provided | Pathogenic (Aug 20, 2012) | 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 1, SCV000179605.4
# | 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