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GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000135533.7

Allele description [Variation Report for GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3]

GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3

Genes:
  • PFKFB3:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [Gene - OMIM - HGNC]
  • ADARB2-AS1:ADARB2 antisense RNA 1 [Gene - HGNC]
  • LOC130003153:ATAC-STARR-seq lymphoblastoid active region 2891 [Gene]
  • LOC130003154:ATAC-STARR-seq lymphoblastoid active region 2892 [Gene]
  • LOC130003160:ATAC-STARR-seq lymphoblastoid active region 2893 [Gene]
  • LOC130003161:ATAC-STARR-seq lymphoblastoid active region 2894 [Gene]
  • LOC130003163:ATAC-STARR-seq lymphoblastoid active region 2897 [Gene]
  • LOC130003165:ATAC-STARR-seq lymphoblastoid active region 2898 [Gene]
  • LOC130003166:ATAC-STARR-seq lymphoblastoid active region 2899 [Gene]
  • LOC130003167:ATAC-STARR-seq lymphoblastoid active region 2901 [Gene]
  • LOC130003168:ATAC-STARR-seq lymphoblastoid active region 2902 [Gene]
  • LOC130003169:ATAC-STARR-seq lymphoblastoid active region 2903 [Gene]
  • LOC130003170:ATAC-STARR-seq lymphoblastoid active region 2904 [Gene]
  • LOC130003174:ATAC-STARR-seq lymphoblastoid active region 2905 [Gene]
  • LOC130003176:ATAC-STARR-seq lymphoblastoid active region 2908 [Gene]
  • LOC130003179:ATAC-STARR-seq lymphoblastoid active region 2909 [Gene]
  • LOC130003180:ATAC-STARR-seq lymphoblastoid active region 2910 [Gene]
  • LOC130003181:ATAC-STARR-seq lymphoblastoid active region 2911 [Gene]
  • LOC130003182:ATAC-STARR-seq lymphoblastoid active region 2912 [Gene]
  • LOC130003183:ATAC-STARR-seq lymphoblastoid active region 2913 [Gene]
  • LOC130003185:ATAC-STARR-seq lymphoblastoid active region 2915 [Gene]
  • LOC130003186:ATAC-STARR-seq lymphoblastoid active region 2916 [Gene]
  • LOC130003187:ATAC-STARR-seq lymphoblastoid active region 2918 [Gene]
  • LOC130003188:ATAC-STARR-seq lymphoblastoid active region 2919 [Gene]
  • LOC130003189:ATAC-STARR-seq lymphoblastoid active region 2920 [Gene]
  • LOC130003190:ATAC-STARR-seq lymphoblastoid active region 2921 [Gene]
  • LOC130003191:ATAC-STARR-seq lymphoblastoid active region 2922 [Gene]
  • LOC130003197:ATAC-STARR-seq lymphoblastoid active region 2925 [Gene]
  • LOC130003198:ATAC-STARR-seq lymphoblastoid active region 2926 [Gene]
  • LOC130003201:ATAC-STARR-seq lymphoblastoid active region 2927 [Gene]
  • LOC130003203:ATAC-STARR-seq lymphoblastoid active region 2928 [Gene]
  • LOC130003204:ATAC-STARR-seq lymphoblastoid active region 2929 [Gene]
  • LOC130003205:ATAC-STARR-seq lymphoblastoid active region 2930 [Gene]
  • LOC130003206:ATAC-STARR-seq lymphoblastoid active region 2931 [Gene]
  • LOC130003207:ATAC-STARR-seq lymphoblastoid active region 2932 [Gene]
  • LOC130003208:ATAC-STARR-seq lymphoblastoid active region 2933 [Gene]
  • LOC130003209:ATAC-STARR-seq lymphoblastoid active region 2934 [Gene]
  • LOC130003210:ATAC-STARR-seq lymphoblastoid active region 2935 [Gene]
  • LOC130003211:ATAC-STARR-seq lymphoblastoid active region 2936 [Gene]
  • LOC130003212:ATAC-STARR-seq lymphoblastoid active region 2937 [Gene]
  • LOC130003213:ATAC-STARR-seq lymphoblastoid active region 2938 [Gene]
  • LOC130003214:ATAC-STARR-seq lymphoblastoid active region 2939 [Gene]
  • LOC130003215:ATAC-STARR-seq lymphoblastoid active region 2940 [Gene]
  • LOC130003216:ATAC-STARR-seq lymphoblastoid active region 2941 [Gene]
  • LOC130003217:ATAC-STARR-seq lymphoblastoid active region 2942 [Gene]
  • LOC130003218:ATAC-STARR-seq lymphoblastoid active region 2943 [Gene]
  • LOC130003223:ATAC-STARR-seq lymphoblastoid active region 2944 [Gene]
  • LOC130003224:ATAC-STARR-seq lymphoblastoid active region 2945 [Gene]
  • LOC130003227:ATAC-STARR-seq lymphoblastoid active region 2946 [Gene]
  • LOC130003229:ATAC-STARR-seq lymphoblastoid active region 2947 [Gene]
  • LOC130003230:ATAC-STARR-seq lymphoblastoid active region 2948 [Gene]
  • LOC130003231:ATAC-STARR-seq lymphoblastoid active region 2949 [Gene]
  • LOC130003232:ATAC-STARR-seq lymphoblastoid active region 2950 [Gene]
  • LOC130003234:ATAC-STARR-seq lymphoblastoid active region 2951 [Gene]
  • LOC130003235:ATAC-STARR-seq lymphoblastoid active region 2952 [Gene]
  • LOC130003238:ATAC-STARR-seq lymphoblastoid active region 2953 [Gene]
  • LOC130003239:ATAC-STARR-seq lymphoblastoid active region 2954 [Gene]
  • LOC130003240:ATAC-STARR-seq lymphoblastoid active region 2955 [Gene]
  • LOC130003241:ATAC-STARR-seq lymphoblastoid active region 2956 [Gene]
  • LOC130003242:ATAC-STARR-seq lymphoblastoid active region 2957 [Gene]
  • LOC130003243:ATAC-STARR-seq lymphoblastoid active region 2958 [Gene]
  • LOC130003244:ATAC-STARR-seq lymphoblastoid active region 2959 [Gene]
  • LOC130003245:ATAC-STARR-seq lymphoblastoid active region 2960 [Gene]
  • LOC130003246:ATAC-STARR-seq lymphoblastoid active region 2961 [Gene]
  • LOC130003248:ATAC-STARR-seq lymphoblastoid active region 2962 [Gene]
  • LOC130003249:ATAC-STARR-seq lymphoblastoid active region 2963 [Gene]
  • LOC130003253:ATAC-STARR-seq lymphoblastoid active region 2964 [Gene]
  • LOC130003254:ATAC-STARR-seq lymphoblastoid active region 2965 [Gene]
  • LOC130003255:ATAC-STARR-seq lymphoblastoid active region 2966 [Gene]
  • LOC130003256:ATAC-STARR-seq lymphoblastoid active region 2967 [Gene]
  • LOC130003257:ATAC-STARR-seq lymphoblastoid active region 2968 [Gene]
  • LOC130003260:ATAC-STARR-seq lymphoblastoid active region 2969 [Gene]
  • LOC130003261:ATAC-STARR-seq lymphoblastoid active region 2970 [Gene]
  • LOC130003263:ATAC-STARR-seq lymphoblastoid active region 2972 [Gene]
  • LOC130003264:ATAC-STARR-seq lymphoblastoid active region 2973 [Gene]
  • LOC130003265:ATAC-STARR-seq lymphoblastoid active region 2974 [Gene]
  • LOC130003266:ATAC-STARR-seq lymphoblastoid active region 2975 [Gene]
  • LOC130003268:ATAC-STARR-seq lymphoblastoid active region 2977 [Gene]
  • LOC130003269:ATAC-STARR-seq lymphoblastoid active region 2978 [Gene]
  • LOC130003270:ATAC-STARR-seq lymphoblastoid active region 2979 [Gene]
  • LOC130003271:ATAC-STARR-seq lymphoblastoid active region 2980 [Gene]
  • LOC130003273:ATAC-STARR-seq lymphoblastoid active region 2981 [Gene]
  • LOC130003274:ATAC-STARR-seq lymphoblastoid active region 2983 [Gene]
  • LOC130003279:ATAC-STARR-seq lymphoblastoid active region 2984 [Gene]
  • LOC130003280:ATAC-STARR-seq lymphoblastoid active region 2985 [Gene]
  • LOC130003281:ATAC-STARR-seq lymphoblastoid active region 2986 [Gene]
  • LOC130003282:ATAC-STARR-seq lymphoblastoid active region 2987 [Gene]
  • LOC130003284:ATAC-STARR-seq lymphoblastoid active region 2988 [Gene]
  • LOC130003285:ATAC-STARR-seq lymphoblastoid active region 2989 [Gene]
  • LOC130003286:ATAC-STARR-seq lymphoblastoid active region 2990 [Gene]
  • LOC130003288:ATAC-STARR-seq lymphoblastoid active region 2991 [Gene]
  • LOC130003289:ATAC-STARR-seq lymphoblastoid active region 2992 [Gene]
  • LOC130003296:ATAC-STARR-seq lymphoblastoid active region 2993 [Gene]
  • LOC130003297:ATAC-STARR-seq lymphoblastoid active region 2994 [Gene]
  • LOC130003298:ATAC-STARR-seq lymphoblastoid active region 2995 [Gene]
  • LOC130003299:ATAC-STARR-seq lymphoblastoid active region 2996 [Gene]
  • LOC130003300:ATAC-STARR-seq lymphoblastoid active region 2997 [Gene]
  • LOC130003301:ATAC-STARR-seq lymphoblastoid active region 2998 [Gene]
  • LOC130003302:ATAC-STARR-seq lymphoblastoid active region 2999 [Gene]
  • LOC130003303:ATAC-STARR-seq lymphoblastoid active region 3000 [Gene]
  • LOC130003304:ATAC-STARR-seq lymphoblastoid active region 3001 [Gene]
  • LOC130003305:ATAC-STARR-seq lymphoblastoid active region 3002 [Gene]
  • LOC130003306:ATAC-STARR-seq lymphoblastoid active region 3003 [Gene]
  • LOC130003307:ATAC-STARR-seq lymphoblastoid active region 3004 [Gene]
  • LOC130003308:ATAC-STARR-seq lymphoblastoid active region 3005 [Gene]
  • LOC130003309:ATAC-STARR-seq lymphoblastoid active region 3006 [Gene]
  • LOC130003310:ATAC-STARR-seq lymphoblastoid active region 3007 [Gene]
  • LOC130003311:ATAC-STARR-seq lymphoblastoid active region 3008 [Gene]
  • LOC130003312:ATAC-STARR-seq lymphoblastoid active region 3009 [Gene]
  • LOC130003313:ATAC-STARR-seq lymphoblastoid active region 3010 [Gene]
  • LOC130003315:ATAC-STARR-seq lymphoblastoid active region 3011 [Gene]
  • LOC130003316:ATAC-STARR-seq lymphoblastoid active region 3012 [Gene]
  • LOC130003317:ATAC-STARR-seq lymphoblastoid active region 3013 [Gene]
  • LOC130003319:ATAC-STARR-seq lymphoblastoid active region 3014 [Gene]
  • LOC130003320:ATAC-STARR-seq lymphoblastoid active region 3015 [Gene]
  • LOC130003321:ATAC-STARR-seq lymphoblastoid active region 3016 [Gene]
  • LOC130003322:ATAC-STARR-seq lymphoblastoid active region 3017 [Gene]
  • LOC130003325:ATAC-STARR-seq lymphoblastoid active region 3018 [Gene]
  • LOC130003326:ATAC-STARR-seq lymphoblastoid active region 3019 [Gene]
  • LOC130003327:ATAC-STARR-seq lymphoblastoid active region 3020 [Gene]
  • LOC130003328:ATAC-STARR-seq lymphoblastoid active region 3021 [Gene]
  • LOC130003329:ATAC-STARR-seq lymphoblastoid active region 3022 [Gene]
  • LOC130003330:ATAC-STARR-seq lymphoblastoid active region 3023 [Gene]
  • LOC130003331:ATAC-STARR-seq lymphoblastoid active region 3026 [Gene]
  • LOC130003155:ATAC-STARR-seq lymphoblastoid silent region 2059 [Gene]
  • LOC130003156:ATAC-STARR-seq lymphoblastoid silent region 2060 [Gene]
  • LOC130003157:ATAC-STARR-seq lymphoblastoid silent region 2061 [Gene]
  • LOC130003158:ATAC-STARR-seq lymphoblastoid silent region 2062 [Gene]
  • LOC130003159:ATAC-STARR-seq lymphoblastoid silent region 2063 [Gene]
  • LOC130003162:ATAC-STARR-seq lymphoblastoid silent region 2066 [Gene]
  • LOC130003164:ATAC-STARR-seq lymphoblastoid silent region 2067 [Gene]
  • LOC130003171:ATAC-STARR-seq lymphoblastoid silent region 2069 [Gene]
  • LOC130003172:ATAC-STARR-seq lymphoblastoid silent region 2070 [Gene]
  • LOC130003173:ATAC-STARR-seq lymphoblastoid silent region 2071 [Gene]
  • LOC130003175:ATAC-STARR-seq lymphoblastoid silent region 2072 [Gene]
  • LOC130003177:ATAC-STARR-seq lymphoblastoid silent region 2073 [Gene]
  • LOC130003178:ATAC-STARR-seq lymphoblastoid silent region 2074 [Gene]
  • LOC130003184:ATAC-STARR-seq lymphoblastoid silent region 2077 [Gene]
  • LOC130003192:ATAC-STARR-seq lymphoblastoid silent region 2078 [Gene]
  • LOC130003193:ATAC-STARR-seq lymphoblastoid silent region 2079 [Gene]
  • LOC130003194:ATAC-STARR-seq lymphoblastoid silent region 2080 [Gene]
  • LOC130003195:ATAC-STARR-seq lymphoblastoid silent region 2081 [Gene]
  • LOC130003196:ATAC-STARR-seq lymphoblastoid silent region 2082 [Gene]
  • LOC130003199:ATAC-STARR-seq lymphoblastoid silent region 2083 [Gene]
  • LOC130003200:ATAC-STARR-seq lymphoblastoid silent region 2084 [Gene]
  • LOC130003202:ATAC-STARR-seq lymphoblastoid silent region 2085 [Gene]
  • LOC130003219:ATAC-STARR-seq lymphoblastoid silent region 2089 [Gene]
  • LOC130003220:ATAC-STARR-seq lymphoblastoid silent region 2090 [Gene]
  • LOC130003221:ATAC-STARR-seq lymphoblastoid silent region 2091 [Gene]
  • LOC130003222:ATAC-STARR-seq lymphoblastoid silent region 2092 [Gene]
  • LOC130003225:ATAC-STARR-seq lymphoblastoid silent region 2093 [Gene]
  • LOC130003226:ATAC-STARR-seq lymphoblastoid silent region 2094 [Gene]
  • LOC130003228:ATAC-STARR-seq lymphoblastoid silent region 2095 [Gene]
  • LOC130003233:ATAC-STARR-seq lymphoblastoid silent region 2096 [Gene]
  • LOC130003236:ATAC-STARR-seq lymphoblastoid silent region 2097 [Gene]
  • LOC130003237:ATAC-STARR-seq lymphoblastoid silent region 2098 [Gene]
  • LOC130003247:ATAC-STARR-seq lymphoblastoid silent region 2101 [Gene]
  • LOC130003250:ATAC-STARR-seq lymphoblastoid silent region 2102 [Gene]
  • LOC130003251:ATAC-STARR-seq lymphoblastoid silent region 2106 [Gene]
  • LOC130003252:ATAC-STARR-seq lymphoblastoid silent region 2107 [Gene]
  • LOC130003258:ATAC-STARR-seq lymphoblastoid silent region 2108 [Gene]
  • LOC130003259:ATAC-STARR-seq lymphoblastoid silent region 2109 [Gene]
  • LOC130003262:ATAC-STARR-seq lymphoblastoid silent region 2110 [Gene]
  • LOC130003267:ATAC-STARR-seq lymphoblastoid silent region 2112 [Gene]
  • LOC130003272:ATAC-STARR-seq lymphoblastoid silent region 2113 [Gene]
  • LOC130003275:ATAC-STARR-seq lymphoblastoid silent region 2115 [Gene]
  • LOC130003276:ATAC-STARR-seq lymphoblastoid silent region 2116 [Gene]
  • LOC130003277:ATAC-STARR-seq lymphoblastoid silent region 2117 [Gene]
  • LOC130003278:ATAC-STARR-seq lymphoblastoid silent region 2118 [Gene]
  • LOC130003283:ATAC-STARR-seq lymphoblastoid silent region 2119 [Gene]
  • LOC130003287:ATAC-STARR-seq lymphoblastoid silent region 2120 [Gene]
  • LOC130003290:ATAC-STARR-seq lymphoblastoid silent region 2121 [Gene]
  • LOC130003291:ATAC-STARR-seq lymphoblastoid silent region 2122 [Gene]
  • LOC130003292:ATAC-STARR-seq lymphoblastoid silent region 2123 [Gene]
  • LOC130003293:ATAC-STARR-seq lymphoblastoid silent region 2124 [Gene]
  • LOC130003294:ATAC-STARR-seq lymphoblastoid silent region 2125 [Gene]
  • LOC130003295:ATAC-STARR-seq lymphoblastoid silent region 2126 [Gene]
  • LOC130003314:ATAC-STARR-seq lymphoblastoid silent region 2127 [Gene]
  • LOC130003318:ATAC-STARR-seq lymphoblastoid silent region 2128 [Gene]
  • LOC130003323:ATAC-STARR-seq lymphoblastoid silent region 2129 [Gene]
  • LOC130003324:ATAC-STARR-seq lymphoblastoid silent region 2130 [Gene]
  • ATP5F1C:ATP synthase F1 subunit gamma [Gene - OMIM - HGNC]
  • LOC126860808:BRD4-independent group 4 enhancer GRCh37_chr10:1088961-1090160 [Gene]
  • LOC126860859:BRD4-independent group 4 enhancer GRCh37_chr10:11113336-11114535 [Gene]
  • LOC126860813:BRD4-independent group 4 enhancer GRCh37_chr10:1501805-1503004 [Gene]
  • LOC126860816:BRD4-independent group 4 enhancer GRCh37_chr10:1789244-1790443 [Gene]
  • LOC126860818:BRD4-independent group 4 enhancer GRCh37_chr10:1984230-1985429 [Gene]
  • LOC126860820:BRD4-independent group 4 enhancer GRCh37_chr10:2249820-2251019 [Gene]
  • LOC126860822:BRD4-independent group 4 enhancer GRCh37_chr10:2356765-2357964 [Gene]
  • LOC126860802:BRD4-independent group 4 enhancer GRCh37_chr10:294268-295467 [Gene]
  • LOC126860827:BRD4-independent group 4 enhancer GRCh37_chr10:3290932-3292131 [Gene]
  • LOC126860829:BRD4-independent group 4 enhancer GRCh37_chr10:3415456-3416655 [Gene]
  • LOC126860831:BRD4-independent group 4 enhancer GRCh37_chr10:3528201-3529400 [Gene]
  • LOC126860832:BRD4-independent group 4 enhancer GRCh37_chr10:3572357-3573556 [Gene]
  • LOC126860833:BRD4-independent group 4 enhancer GRCh37_chr10:3764787-3765986 [Gene]
  • LOC126860837:BRD4-independent group 4 enhancer GRCh37_chr10:3808014-3809213 [Gene]
  • LOC126860838:BRD4-independent group 4 enhancer GRCh37_chr10:3894424-3895623 [Gene]
  • LOC126860805:BRD4-independent group 4 enhancer GRCh37_chr10:390524-391723 [Gene]
  • LOC126860840:BRD4-independent group 4 enhancer GRCh37_chr10:4140042-4141241 [Gene]
  • LOC126860841:BRD4-independent group 4 enhancer GRCh37_chr10:4386271-4387470 [Gene]
  • LOC126860842:BRD4-independent group 4 enhancer GRCh37_chr10:4395214-4396413 [Gene]
  • LOC126860848:BRD4-independent group 4 enhancer GRCh37_chr10:5958854-5960053 [Gene]
  • LOC126860851:BRD4-independent group 4 enhancer GRCh37_chr10:6975635-6976834 [Gene]
  • LOC126860852:BRD4-independent group 4 enhancer GRCh37_chr10:7014138-7015337 [Gene]
  • LOC126860853:BRD4-independent group 4 enhancer GRCh37_chr10:7298769-7299968 [Gene]
  • LOC126860856:BRD4-independent group 4 enhancer GRCh37_chr10:8697559-8698758 [Gene]
  • LOC108348022:CAGE-defined B cell enhancer downstream of LOC105376365 [Gene]
  • CALML3-AS1:CALML3 antisense RNA 1 [Gene - HGNC]
  • LOC126860857:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:10846798-10847997 [Gene]
  • LOC126860858:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:10872688-10873887 [Gene]
  • LOC126860811:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:1234984-1236183 [Gene]
  • LOC126860817:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:1980919-1982118 [Gene]
  • LOC126860823:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:2964441-2965640 [Gene]
  • LOC126860803:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:310208-311407 [Gene]
  • LOC126860824:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:3132863-3134062 [Gene]
  • LOC126860825:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:3137343-3138542 [Gene]
  • LOC126860826:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:3146075-3147274 [Gene]
  • LOC126860835:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:3796919-3798118 [Gene]
  • LOC126860844:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:4473152-4474351 [Gene]
  • LOC126860807:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:461462-462661 [Gene]
  • LOC111818965:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:4704879-4706078 [Gene]
  • LOC126860847:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:5626502-5627701 [Gene]
  • LOC126860855:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:7580314-7581513 [Gene]
  • CELF2-AS1:CELF2 antisense RNA 1 [Gene - HGNC]
  • CELF2-AS2:CELF2 antisense RNA 2 [Gene - HGNC]
  • CELF2-DT:CELF2 divergent transript [Gene - HGNC]
  • LOC128462383:CRISPRi-FlowFISH-validated IL2RA regulatory element GRCh37_chr10:6094489-6094989 [Gene]
  • LOC128462384:CRISPRi-FlowFISH-validated IL2RA regulatory element GRCh37_chr10:6104083-6104713 [Gene]
  • LOC128462385:CRISPRi-FlowFISH-validated IL2RA regulatory element GRCh37_chr10:6125624-6126124 [Gene]
  • LOC128462386:CRISPRi-FlowFISH-validated PFKFB3 regulatory element GRCh37_chr10:6389972-6390472 [Gene]
  • LOC128462408:CRISPRi-FlowFISH-validated PFKFB3 regulatory elements GRCh37_chr10:6186610-6187110 and GRCh37_chr10:6186666-6187166 [Gene]
  • LOC116216106:CRISPRi-validated cis-regulatory element chr10.145 [Gene]
  • LOC116216107:CRISPRi-validated cis-regulatory element chr10.180 [Gene]
  • LOC116216108:CRISPRi-validated cis-regulatory element chr10.185 [Gene]
  • LOC116216109:CRISPRi-validated cis-regulatory element chr10.193 [Gene]
  • LOC116216110:CRISPRi-validated cis-regulatory element chr10.219 [Gene]
  • LOC116216111:CRISPRi-validated cis-regulatory element chr10.222 [Gene]
  • LOC116216112:CRISPRi-validated cis-regulatory element chr10.454 [Gene]
  • CELF2:CUGBP Elav-like family member 2 [Gene - OMIM - HGNC]
  • DIP2C-AS1:DIP2C antisense RNA 1 [Gene - HGNC]
  • FBH1:F-box DNA helicase 1 [Gene - OMIM - HGNC]
  • GATA3:GATA binding protein 3 [Gene - OMIM - HGNC]
  • GATA3-AS1:GATA3 antisense RNA 1 [Gene - HGNC]
  • GDI2:GDP dissociation inhibitor 2 [Gene - OMIM - HGNC]
  • GTPBP4:GTP binding protein 4 [Gene - OMIM - HGNC]
  • LOC111589206:HNF4 motif-containing MPRA enhancer 225 [Gene]
  • IDI2-AS1:IDI2 antisense RNA 1 [Gene - OMIM - HGNC]
  • KLF6:KLF transcription factor 6 [Gene - OMIM - HGNC]
  • LOC128854704:KLF6-I enhancer [Gene]
  • LOC128854703:KLF6-III enhancer [Gene]
  • LOC116216105:KLF6-IV enhancer [Gene]
  • KIN:Kin17 DNA and RNA binding protein [Gene - OMIM - HGNC]
  • LARP4B-DT:LARP4B divergent transcript [Gene - HGNC]
  • LARP4B:La ribonucleoprotein 4B [Gene - OMIM - HGNC]
  • LOC126860809:MED14-independent group 3 enhancer GRCh37_chr10:1141578-1142777 [Gene]
  • LOC126860810:MED14-independent group 3 enhancer GRCh37_chr10:1155609-1156808 [Gene]
  • LOC126860860:MED14-independent group 3 enhancer GRCh37_chr10:11726365-11727564 [Gene]
  • LOC126860812:MED14-independent group 3 enhancer GRCh37_chr10:1451683-1452882 [Gene]
  • LOC126860819:MED14-independent group 3 enhancer GRCh37_chr10:2008580-2009779 [Gene]
  • LOC126860839:MED14-independent group 3 enhancer GRCh37_chr10:3935366-3936565 [Gene]
  • LOC126860806:MED14-independent group 3 enhancer GRCh37_chr10:409736-410935 [Gene]
  • LOC126860845:MED14-independent group 3 enhancer GRCh37_chr10:5313502-5314701 [Gene]
  • LOC126860850:MED14-independent group 3 enhancer GRCh37_chr10:6778731-6779930 [Gene]
  • LOC129390119:MPRA-validated peak840 silencer [Gene]
  • LOC129390120:MPRA-validated peak841 silencer [Gene]
  • LOC129390121:MPRA-validated peak843 silencer [Gene]
  • LOC129390122:MPRA-validated peak845 silencer [Gene]
  • LOC129390123:MPRA-validated peak852 silencer [Gene]
  • LOC129390124:MPRA-validated peak853 silencer [Gene]
  • LOC129390125:MPRA-validated peak854 silencer [Gene]
  • LOC129390126:MPRA-validated peak855 silencer [Gene]
  • LOC129390127:MPRA-validated peak856 silencer [Gene]
  • LOC129390128:MPRA-validated peak859 silencer [Gene]
  • LOC129390129:MPRA-validated peak860 silencer [Gene]
  • LOC129390130:MPRA-validated peak861 silencer [Gene]
  • LOC129390131:MPRA-validated peak862 silencer [Gene]
  • LOC129390132:MPRA-validated peak863 silencer [Gene]
  • LOC132089785:Neanderthal introgressed variant-containing enhancer experimental_13158 [Gene]
  • LOC132089786:Neanderthal introgressed variant-containing enhancer experimental_13180 [Gene]
  • LOC132089787:Neanderthal introgressed variant-containing enhancer experimental_13203 [Gene]
  • LOC132089788:Neanderthal introgressed variant-containing enhancer experimental_13225 [Gene]
  • LOC132089789:Neanderthal introgressed variant-containing enhancer experimental_13268 [Gene]
  • LOC132089790:Neanderthal introgressed variant-containing enhancer experimental_13345 [Gene]
  • LOC132090804:Neanderthal introgressed variant-containing enhancer experimental_13451 [Gene]
  • LOC132089792:Neanderthal introgressed variant-containing enhancer experimental_13537 [Gene]
  • LOC132090805:Neanderthal introgressed variant-containing enhancer experimental_13978 [Gene]
  • LOC132089800:Neanderthal introgressed variant-containing enhancer experimental_14068 [Gene]
  • LOC132089802:Neanderthal introgressed variant-containing enhancer experimental_14123 [Gene]
  • LOC132089803:Neanderthal introgressed variant-containing enhancer experimental_14215 [Gene]
  • LOC132089848:Neanderthal introgressed variant-containing enhancer experimental_16768 [Gene]
  • LOC132089861:Neanderthal introgressed variant-containing enhancer experimental_16971 [Gene]
  • LOC132090803:Neanderthal introgressed variant-containing enhancer experimental_17861 [Gene]
  • LOC132089878:Neanderthal introgressed variant-containing enhancer experimental_9687 [Gene]
  • LOC126860814:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:1541598-1542797 [Gene]
  • LOC126860815:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:1576761-1577960 [Gene]
  • LOC126860821:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:2255844-2257043 [Gene]
  • LOC126860828:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:3355722-3356921 [Gene]
  • LOC126860830:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:3509500-3510699 [Gene]
  • LOC126860804:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:369502-370701 [Gene]
  • LOC126860834:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:3781762-3782961 [Gene]
  • LOC126860836:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:3804788-3805987 [Gene]
  • LOC126860843:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:4449652-4450851 [Gene]
  • LOC126860846:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:5333150-5334349 [Gene]
  • LOC126860849:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:6340850-6342049 [Gene]
  • LOC126860854:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:7403871-7405070 [Gene]
  • PFKP-DT:PFKP divergent transcript [Gene - HGNC]
  • PITRM1-AS1:PITRM1 antisense RNA 1 [Gene - HGNC]
  • PRKCQ-AS1:PRKCQ antisense RNA 1 [Gene - HGNC]
  • RBM17:RNA binding motif protein 17 [Gene - OMIM - HGNC]
  • SFMBT2:Scm like with four mbt domains 2 [Gene - OMIM - HGNC]
  • LOC121811724:Sharpr-MPRA regulatory region 10902 [Gene]
  • LOC124403898:Sharpr-MPRA regulatory region 10920 [Gene]
  • LOC124403905:Sharpr-MPRA regulatory region 11333 [Gene]
  • LOC121366037:Sharpr-MPRA regulatory region 11939 [Gene]
  • LOC124403911:Sharpr-MPRA regulatory region 12202 [Gene]
  • LOC111946234:Sharpr-MPRA regulatory region 12277 [Gene]
  • LOC111946246:Sharpr-MPRA regulatory region 12587 [Gene]
  • LOC124403910:Sharpr-MPRA regulatory region 13617 [Gene]
  • LOC124403897:Sharpr-MPRA regulatory region 15592 [Gene]
  • LOC124403900:Sharpr-MPRA regulatory region 1905 [Gene]
  • LOC121366038:Sharpr-MPRA regulatory region 1972 [Gene]
  • LOC111832674:Sharpr-MPRA regulatory region 2332 [Gene]
  • LOC124403906:Sharpr-MPRA regulatory region 2494 [Gene]
  • LOC111946252:Sharpr-MPRA regulatory region 2566 [Gene]
  • LOC111946236:Sharpr-MPRA regulatory region 2775 [Gene]
  • LOC124403902:Sharpr-MPRA regulatory region 2914 [Gene]
  • LOC124403901:Sharpr-MPRA regulatory region 3800 [Gene]
  • LOC124403908:Sharpr-MPRA regulatory region 3847 [Gene]
  • LOC111946241:Sharpr-MPRA regulatory region 4527 [Gene]
  • LOC124403907:Sharpr-MPRA regulatory region 4656 [Gene]
  • LOC121366039:Sharpr-MPRA regulatory region 4729 [Gene]
  • LOC121811723:Sharpr-MPRA regulatory region 4775 [Gene]
  • LOC111946251:Sharpr-MPRA regulatory region 5095 [Gene]
  • LOC124403909:Sharpr-MPRA regulatory region 6244 [Gene]
  • LOC111946245:Sharpr-MPRA regulatory region 6271 [Gene]
  • LOC111946242:Sharpr-MPRA regulatory region 6566 [Gene]
  • LOC124403903:Sharpr-MPRA regulatory region 6674 [Gene]
  • LOC124403904:Sharpr-MPRA regulatory region 7156 [Gene]
  • LOC124403899:Sharpr-MPRA regulatory region 9114 [Gene]
  • TAF3:TATA-box binding protein associated factor 3 [Gene - OMIM - HGNC]
  • USP6NL:USP6 N-terminal like [Gene - OMIM - HGNC]
  • USP6NL-AS1:USP6NL antisense RNA 1 [Gene - HGNC]
  • LOC110121355:VISTA enhancer hs1382 [Gene]
  • LOC110121449:VISTA enhancer hs1837 [Gene]
  • LOC110121467:VISTA enhancer hs1958 [Gene]
  • WDR37:WD repeat domain 37 [Gene - OMIM - HGNC]
  • ADARB2:adenosine deaminase RNA specific B2 (inactive) [Gene - OMIM - HGNC]
  • AKR1C1:aldo-keto reductase family 1 member C1 [Gene - OMIM - HGNC]
  • AKR1C2:aldo-keto reductase family 1 member C2 [Gene - OMIM - HGNC]
  • AKR1C3:aldo-keto reductase family 1 member C3 [Gene - OMIM - HGNC]
  • AKR1C4:aldo-keto reductase family 1 member C4 [Gene - OMIM - HGNC]
  • AKR1C8:aldo-keto reductase family 1 member C8 [Gene - HGNC]
  • AKR1E2:aldo-keto reductase family 1 member E2 [Gene - OMIM - HGNC]
  • ASB13:ankyrin repeat and SOCS box containing 13 [Gene - OMIM - HGNC]
  • ANKRD16:ankyrin repeat domain 16 [Gene - OMIM - HGNC]
  • CALML3:calmodulin like 3 [Gene - OMIM - HGNC]
  • CALML5:calmodulin like 5 [Gene - OMIM - HGNC]
  • DIP2C:disco interacting protein 2 homolog C [Gene - OMIM - HGNC]
  • ITIH2:inter-alpha-trypsin inhibitor heavy chain 2 [Gene - OMIM - HGNC]
  • ITIH5:inter-alpha-trypsin inhibitor heavy chain 5 [Gene - OMIM - HGNC]
  • IL15RA:interleukin 15 receptor subunit alpha [Gene - OMIM - HGNC]
  • IL2RA:interleukin 2 receptor subunit alpha [Gene - OMIM - HGNC]
  • IDI1:isopentenyl-diphosphate delta isomerase 1 [Gene - OMIM - HGNC]
  • IDI2:isopentenyl-diphosphate delta isomerase 2 [Gene - OMIM - HGNC]
  • LASTR:lncRNA associated with SART3 regulation of splicing [Gene - OMIM - HGNC]
  • LINP1:lncRNA in non-homologous end joining pathway 1 [Gene - HGNC]
  • LINC00200:long intergenic non-protein coding RNA 200 [Gene - HGNC]
  • LINC02561:long intergenic non-protein coding RNA 2561 [Gene - HGNC]
  • LINC02639:long intergenic non-protein coding RNA 2639 [Gene - HGNC]
  • LINC02642:long intergenic non-protein coding RNA 2642 [Gene - HGNC]
  • LINC02645:long intergenic non-protein coding RNA 2645 [Gene - HGNC]
  • LINC02648:long intergenic non-protein coding RNA 2648 [Gene - HGNC]
  • LINC02649:long intergenic non-protein coding RNA 2649 [Gene - HGNC]
  • LINC02656:long intergenic non-protein coding RNA 2656 [Gene - HGNC]
  • LINC02660:long intergenic non-protein coding RNA 2660 [Gene - HGNC]
  • LINC02662:long intergenic non-protein coding RNA 2662 [Gene - HGNC]
  • LINC02665:long intergenic non-protein coding RNA 2665 [Gene - HGNC]
  • LINC02668:long intergenic non-protein coding RNA 2668 [Gene - HGNC]
  • LINC02669:long intergenic non-protein coding RNA 2669 [Gene - HGNC]
  • LINC02670:long intergenic non-protein coding RNA 2670 [Gene - HGNC]
  • LINC02676:long intergenic non-protein coding RNA 2676 [Gene - HGNC]
  • LINC02677:long intergenic non-protein coding RNA 2677 [Gene - HGNC]
  • LINC02678:long intergenic non-protein coding RNA 2678 [Gene - HGNC]
  • LINC00700:long intergenic non-protein coding RNA 700 [Gene - HGNC]
  • LINC00701:long intergenic non-protein coding RNA 701 [Gene - HGNC]
  • LINC00702:long intergenic non-protein coding RNA 702 [Gene - HGNC]
  • LINC00703:long intergenic non-protein coding RNA 703 [Gene - HGNC]
  • LINC00705:long intergenic non-protein coding RNA 705 [Gene - HGNC]
  • LINC00706:long intergenic non-protein coding RNA 706 [Gene - HGNC]
  • LINC00707:long intergenic non-protein coding RNA 707 [Gene - HGNC]
  • LINC00708:long intergenic non-protein coding RNA 708 [Gene - HGNC]
  • LINC00709:long intergenic non-protein coding RNA 709 [Gene - HGNC]
  • LINC00710:long intergenic non-protein coding RNA 710 [Gene - HGNC]
  • MIR3155A:microRNA 3155a [Gene - HGNC]
  • MIR3155B:microRNA 3155b [Gene - HGNC]
  • MIR5699:microRNA 5699 [Gene - HGNC]
  • MIR6072:microRNA 6072 [Gene - HGNC]
  • MIR6078:microRNA 6078 [Gene - HGNC]
  • MANCR:mitotically associated long non coding RNA [Gene - HGNC]
  • LOC105376353:mucin-5AC-like [Gene]
  • NET1:neuroepithelial cell transforming 1 [Gene - OMIM - HGNC]
  • LOC106783505:nonconserved acetylation island sequence 45 enhancer [Gene]
  • LOC106783507:nonconserved acetylation island sequence 51 enhancer [Gene]
  • PFKP:phosphofructokinase, platelet [Gene - OMIM - HGNC]
  • PITRM1:pitrilysin metallopeptidase 1 [Gene - OMIM - HGNC]
  • PRKCQ:protein kinase C theta [Gene - OMIM - HGNC]
  • SNORD129:small nucleolar RNA, C/D box 129 [Gene - HGNC]
  • SNORD142:small nucleolar RNA, C/D box 142 [Gene - HGNC]
  • TRV-TAC3-1:tRNA-Val (anticodon TAC) 3-1 [Gene - HGNC]
  • TASOR2:transcription activation suppressor family member 2 [Gene - HGNC]
  • TUBAL3:tubulin alpha like 3 [Gene - HGNC]
  • LOC101928051:uncharacterized LOC101928051 [Gene]
  • LOC101928272:uncharacterized LOC101928272 [Gene]
  • LOC101930421:uncharacterized LOC101930421 [Gene]
  • LOC105376350:uncharacterized LOC105376350 [Gene]
  • LOC105376360:uncharacterized LOC105376360 [Gene]
  • LOC105376384:uncharacterized LOC105376384 [Gene]
  • LOC105376387:uncharacterized LOC105376387 [Gene]
  • LOC105376390:uncharacterized LOC105376390 [Gene]
  • LOC105376398:uncharacterized LOC105376398 [Gene]
  • LOC107984195:uncharacterized LOC107984195 [Gene]
  • UCN3:urocortin 3 [Gene - OMIM - HGNC]
  • ZMYND11:zinc finger MYND-type containing 11 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10p15.3-14
Genomic location:
Preferred name:
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3
HGVS:
  • NC_000010.11:g.(?_90421)_(11713049_?)dup
  • NC_000010.10:g.(?_224406)_(11755048_?)dup
  • NC_000010.9:g.(?_126361)_(11795054_?)dup
Links:
dbVar: nssv706205; dbVar: nsv530364
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000175406ISCA site 1

See additional submitters

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000175406.4

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

Last Updated: May 7, 2024