U.S. flag

An official website of the United States government

GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000052493.6

Allele description [Variation Report for GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1]

GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1

Genes:
  • PFKFB3:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [Gene - OMIM - HGNC]
  • ADARB2-AS1:ADARB2 antisense RNA 1 [Gene - HGNC]
  • LOC130003151:ATAC-STARR-seq lymphoblastoid active region 2890 [Gene]
  • 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]
  • LOC130003152:ATAC-STARR-seq lymphoblastoid silent region 2057 [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]
  • LOC126860808:BRD4-independent group 4 enhancer GRCh37_chr10:1088961-1090160 [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]
  • LOC108348022:CAGE-defined B cell enhancer downstream of LOC105376365 [Gene]
  • CALML3-AS1:CALML3 antisense RNA 1 [Gene - HGNC]
  • 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]
  • 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]
  • 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]
  • DIP2C-AS1:DIP2C antisense RNA 1 [Gene - HGNC]
  • FBH1:F-box DNA helicase 1 [Gene - OMIM - 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]
  • 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]
  • 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]
  • 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]
  • 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]
  • LOC132090803:Neanderthal introgressed variant-containing enhancer experimental_17861 [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]
  • PFKP-DT:PFKP divergent transcript [Gene - HGNC]
  • PITRM1-AS1:PITRM1 antisense RNA 1 [Gene - HGNC]
  • RBM17:RNA binding motif protein 17 [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]
  • LOC111946234:Sharpr-MPRA regulatory region 12277 [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]
  • LOC111946236:Sharpr-MPRA regulatory region 2775 [Gene]
  • LOC124403902:Sharpr-MPRA regulatory region 2914 [Gene]
  • LOC124403901:Sharpr-MPRA regulatory region 3800 [Gene]
  • LOC111946241:Sharpr-MPRA regulatory region 4527 [Gene]
  • LOC124403907:Sharpr-MPRA regulatory region 4656 [Gene]
  • LOC121811723:Sharpr-MPRA regulatory region 4775 [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]
  • 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]
  • 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]
  • 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]
  • LINC02645:long intergenic non-protein coding RNA 2645 [Gene - HGNC]
  • LINC02660:long intergenic non-protein coding RNA 2660 [Gene - HGNC]
  • LINC02662:long intergenic non-protein coding RNA 2662 [Gene - HGNC]
  • LINC02668:long intergenic non-protein coding RNA 2668 [Gene - HGNC]
  • LINC02669:long intergenic non-protein coding RNA 2669 [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]
  • 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]
  • LOC106783507:nonconserved acetylation island sequence 51 enhancer [Gene]
  • PFKP:phosphofructokinase, platelet [Gene - OMIM - HGNC]
  • PITRM1:pitrilysin metallopeptidase 1 [Gene - OMIM - 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]
  • TUBB8:tubulin beta 8 class VIII [Gene - OMIM - HGNC]
  • LOC101928051:uncharacterized LOC101928051 [Gene]
  • LOC101930421:uncharacterized LOC101930421 [Gene]
  • LOC105376350:uncharacterized LOC105376350 [Gene]
  • LOC105376360:uncharacterized LOC105376360 [Gene]
  • LOC105376384:uncharacterized LOC105376384 [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 loss
Cytogenetic location:
10p15.3-15.1
Genomic location:
Preferred name:
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1
HGVS:
  • NC_000010.11:g.(?_69260)_(6209368_?)del
  • NC_000010.10:g.(?_224406)_(6251331_?)del
  • NC_000010.9:g.(?_105200)_(6291337_?)del
Links:
dbVar: nssv577282; dbVar: nsv531202
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079847GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000079847.4

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

Last Updated: Oct 14, 2023