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GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 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:
RCV000051779.6

Allele description [Variation Report for GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3]

GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3

Genes:
  • ANKRD65-AS1:ANKRD65 antisense RNA 1 [Gene - HGNC]
  • LOC129929080:ATAC-STARR-seq lymphoblastoid active region 11 [Gene]
  • LOC129929085:ATAC-STARR-seq lymphoblastoid active region 12 [Gene]
  • LOC129929097:ATAC-STARR-seq lymphoblastoid active region 13 [Gene]
  • LOC129929101:ATAC-STARR-seq lymphoblastoid active region 14 [Gene]
  • LOC129929124:ATAC-STARR-seq lymphoblastoid active region 16 [Gene]
  • LOC129929125:ATAC-STARR-seq lymphoblastoid active region 17 [Gene]
  • LOC129929126:ATAC-STARR-seq lymphoblastoid active region 19 [Gene]
  • LOC129929127:ATAC-STARR-seq lymphoblastoid active region 20 [Gene]
  • LOC129929128:ATAC-STARR-seq lymphoblastoid active region 21 [Gene]
  • LOC129929129:ATAC-STARR-seq lymphoblastoid active region 22 [Gene]
  • LOC129929132:ATAC-STARR-seq lymphoblastoid active region 23 [Gene]
  • LOC129929136:ATAC-STARR-seq lymphoblastoid active region 24 [Gene]
  • LOC129929137:ATAC-STARR-seq lymphoblastoid active region 25 [Gene]
  • LOC129929139:ATAC-STARR-seq lymphoblastoid active region 26 [Gene]
  • LOC129929142:ATAC-STARR-seq lymphoblastoid active region 27 [Gene]
  • LOC129929056:ATAC-STARR-seq lymphoblastoid active region 2 [Gene]
  • LOC129929143:ATAC-STARR-seq lymphoblastoid active region 30 [Gene]
  • LOC129929144:ATAC-STARR-seq lymphoblastoid active region 31 [Gene]
  • LOC129929146:ATAC-STARR-seq lymphoblastoid active region 32 [Gene]
  • LOC129929149:ATAC-STARR-seq lymphoblastoid active region 33 [Gene]
  • LOC129929150:ATAC-STARR-seq lymphoblastoid active region 34 [Gene]
  • LOC129929151:ATAC-STARR-seq lymphoblastoid active region 35 [Gene]
  • LOC129929152:ATAC-STARR-seq lymphoblastoid active region 36 [Gene]
  • LOC129929153:ATAC-STARR-seq lymphoblastoid active region 38 [Gene]
  • LOC129929155:ATAC-STARR-seq lymphoblastoid active region 39 [Gene]
  • LOC129929057:ATAC-STARR-seq lymphoblastoid active region 3 [Gene]
  • LOC129929156:ATAC-STARR-seq lymphoblastoid active region 40 [Gene]
  • LOC129929157:ATAC-STARR-seq lymphoblastoid active region 41 [Gene]
  • LOC129929158:ATAC-STARR-seq lymphoblastoid active region 42 [Gene]
  • LOC129929159:ATAC-STARR-seq lymphoblastoid active region 43 [Gene]
  • LOC129929160:ATAC-STARR-seq lymphoblastoid active region 44 [Gene]
  • LOC129929167:ATAC-STARR-seq lymphoblastoid active region 45 [Gene]
  • LOC129929172:ATAC-STARR-seq lymphoblastoid active region 46 [Gene]
  • LOC129929173:ATAC-STARR-seq lymphoblastoid active region 47 [Gene]
  • LOC129929177:ATAC-STARR-seq lymphoblastoid active region 49 [Gene]
  • LOC129929063:ATAC-STARR-seq lymphoblastoid active region 4 [Gene]
  • LOC129929178:ATAC-STARR-seq lymphoblastoid active region 50 [Gene]
  • LOC129929179:ATAC-STARR-seq lymphoblastoid active region 51 [Gene]
  • LOC129929180:ATAC-STARR-seq lymphoblastoid active region 52 [Gene]
  • LOC129929181:ATAC-STARR-seq lymphoblastoid active region 53 [Gene]
  • LOC129929184:ATAC-STARR-seq lymphoblastoid active region 54 [Gene]
  • LOC129929185:ATAC-STARR-seq lymphoblastoid active region 55 [Gene]
  • LOC129929186:ATAC-STARR-seq lymphoblastoid active region 56 [Gene]
  • LOC129929190:ATAC-STARR-seq lymphoblastoid active region 57 [Gene]
  • LOC129929193:ATAC-STARR-seq lymphoblastoid active region 60 [Gene]
  • LOC129929196:ATAC-STARR-seq lymphoblastoid active region 61 [Gene]
  • LOC129929197:ATAC-STARR-seq lymphoblastoid active region 62 [Gene]
  • LOC129929198:ATAC-STARR-seq lymphoblastoid active region 63 [Gene]
  • LOC129929199:ATAC-STARR-seq lymphoblastoid active region 64 [Gene]
  • LOC129929200:ATAC-STARR-seq lymphoblastoid active region 65 [Gene]
  • LOC129929205:ATAC-STARR-seq lymphoblastoid active region 67 [Gene]
  • LOC129929211:ATAC-STARR-seq lymphoblastoid active region 69 [Gene]
  • LOC129929074:ATAC-STARR-seq lymphoblastoid active region 6 [Gene]
  • LOC129929169:ATAC-STARR-seq lymphoblastoid silent region 101 [Gene]
  • LOC129929170:ATAC-STARR-seq lymphoblastoid silent region 102 [Gene]
  • LOC129929171:ATAC-STARR-seq lymphoblastoid silent region 103 [Gene]
  • LOC129929174:ATAC-STARR-seq lymphoblastoid silent region 105 [Gene]
  • LOC129929175:ATAC-STARR-seq lymphoblastoid silent region 106 [Gene]
  • LOC129929176:ATAC-STARR-seq lymphoblastoid silent region 108 [Gene]
  • LOC129929182:ATAC-STARR-seq lymphoblastoid silent region 109 [Gene]
  • LOC129929066:ATAC-STARR-seq lymphoblastoid silent region 10 [Gene]
  • LOC129929183:ATAC-STARR-seq lymphoblastoid silent region 110 [Gene]
  • LOC129929187:ATAC-STARR-seq lymphoblastoid silent region 112 [Gene]
  • LOC129929188:ATAC-STARR-seq lymphoblastoid silent region 113 [Gene]
  • LOC129929189:ATAC-STARR-seq lymphoblastoid silent region 114 [Gene]
  • LOC129929191:ATAC-STARR-seq lymphoblastoid silent region 119 [Gene]
  • LOC129929067:ATAC-STARR-seq lymphoblastoid silent region 11 [Gene]
  • LOC129929192:ATAC-STARR-seq lymphoblastoid silent region 120 [Gene]
  • LOC129929194:ATAC-STARR-seq lymphoblastoid silent region 121 [Gene]
  • LOC129929195:ATAC-STARR-seq lymphoblastoid silent region 122 [Gene]
  • LOC129929201:ATAC-STARR-seq lymphoblastoid silent region 123 [Gene]
  • LOC129929202:ATAC-STARR-seq lymphoblastoid silent region 124 [Gene]
  • LOC129929203:ATAC-STARR-seq lymphoblastoid silent region 125 [Gene]
  • LOC129929204:ATAC-STARR-seq lymphoblastoid silent region 126 [Gene]
  • LOC129929206:ATAC-STARR-seq lymphoblastoid silent region 127 [Gene]
  • LOC129929207:ATAC-STARR-seq lymphoblastoid silent region 128 [Gene]
  • LOC129929068:ATAC-STARR-seq lymphoblastoid silent region 12 [Gene]
  • LOC129929208:ATAC-STARR-seq lymphoblastoid silent region 130 [Gene]
  • LOC129929209:ATAC-STARR-seq lymphoblastoid silent region 131 [Gene]
  • LOC129929210:ATAC-STARR-seq lymphoblastoid silent region 132 [Gene]
  • LOC129929069:ATAC-STARR-seq lymphoblastoid silent region 13 [Gene]
  • LOC129929070:ATAC-STARR-seq lymphoblastoid silent region 14 [Gene]
  • LOC129929071:ATAC-STARR-seq lymphoblastoid silent region 15 [Gene]
  • LOC129929072:ATAC-STARR-seq lymphoblastoid silent region 16 [Gene]
  • LOC129929073:ATAC-STARR-seq lymphoblastoid silent region 17 [Gene]
  • LOC129929075:ATAC-STARR-seq lymphoblastoid silent region 18 [Gene]
  • LOC129929058:ATAC-STARR-seq lymphoblastoid silent region 1 [Gene]
  • LOC129929076:ATAC-STARR-seq lymphoblastoid silent region 22 [Gene]
  • LOC129929077:ATAC-STARR-seq lymphoblastoid silent region 23 [Gene]
  • LOC129929078:ATAC-STARR-seq lymphoblastoid silent region 24 [Gene]
  • LOC129929079:ATAC-STARR-seq lymphoblastoid silent region 26 [Gene]
  • LOC129929081:ATAC-STARR-seq lymphoblastoid silent region 27 [Gene]
  • LOC129929082:ATAC-STARR-seq lymphoblastoid silent region 28 [Gene]
  • LOC129929059:ATAC-STARR-seq lymphoblastoid silent region 2 [Gene]
  • LOC129929083:ATAC-STARR-seq lymphoblastoid silent region 30 [Gene]
  • LOC129929084:ATAC-STARR-seq lymphoblastoid silent region 31 [Gene]
  • LOC129929086:ATAC-STARR-seq lymphoblastoid silent region 32 [Gene]
  • LOC129929087:ATAC-STARR-seq lymphoblastoid silent region 33 [Gene]
  • LOC129929088:ATAC-STARR-seq lymphoblastoid silent region 34 [Gene]
  • LOC129929089:ATAC-STARR-seq lymphoblastoid silent region 35 [Gene]
  • LOC129929090:ATAC-STARR-seq lymphoblastoid silent region 36 [Gene]
  • LOC129929091:ATAC-STARR-seq lymphoblastoid silent region 37 [Gene]
  • LOC129929092:ATAC-STARR-seq lymphoblastoid silent region 38 [Gene]
  • LOC129929093:ATAC-STARR-seq lymphoblastoid silent region 39 [Gene]
  • LOC129929060:ATAC-STARR-seq lymphoblastoid silent region 3 [Gene]
  • LOC129929094:ATAC-STARR-seq lymphoblastoid silent region 40 [Gene]
  • LOC129929095:ATAC-STARR-seq lymphoblastoid silent region 41 [Gene]
  • LOC129929096:ATAC-STARR-seq lymphoblastoid silent region 42 [Gene]
  • LOC129929098:ATAC-STARR-seq lymphoblastoid silent region 43 [Gene]
  • LOC129929099:ATAC-STARR-seq lymphoblastoid silent region 44 [Gene]
  • LOC129929100:ATAC-STARR-seq lymphoblastoid silent region 47 [Gene]
  • LOC129929102:ATAC-STARR-seq lymphoblastoid silent region 49 [Gene]
  • LOC129929103:ATAC-STARR-seq lymphoblastoid silent region 50 [Gene]
  • LOC129929104:ATAC-STARR-seq lymphoblastoid silent region 51 [Gene]
  • LOC129929105:ATAC-STARR-seq lymphoblastoid silent region 52 [Gene]
  • LOC129929106:ATAC-STARR-seq lymphoblastoid silent region 53 [Gene]
  • LOC129929107:ATAC-STARR-seq lymphoblastoid silent region 54 [Gene]
  • LOC129929108:ATAC-STARR-seq lymphoblastoid silent region 55 [Gene]
  • LOC129929109:ATAC-STARR-seq lymphoblastoid silent region 56 [Gene]
  • LOC129929110:ATAC-STARR-seq lymphoblastoid silent region 57 [Gene]
  • LOC129929111:ATAC-STARR-seq lymphoblastoid silent region 58 [Gene]
  • LOC129929112:ATAC-STARR-seq lymphoblastoid silent region 59 [Gene]
  • LOC129929061:ATAC-STARR-seq lymphoblastoid silent region 5 [Gene]
  • LOC129929113:ATAC-STARR-seq lymphoblastoid silent region 60 [Gene]
  • LOC129929114:ATAC-STARR-seq lymphoblastoid silent region 61 [Gene]
  • LOC129929115:ATAC-STARR-seq lymphoblastoid silent region 62 [Gene]
  • LOC129929116:ATAC-STARR-seq lymphoblastoid silent region 63 [Gene]
  • LOC129929117:ATAC-STARR-seq lymphoblastoid silent region 64 [Gene]
  • LOC129929118:ATAC-STARR-seq lymphoblastoid silent region 65 [Gene]
  • LOC129929119:ATAC-STARR-seq lymphoblastoid silent region 66 [Gene]
  • LOC129929120:ATAC-STARR-seq lymphoblastoid silent region 67 [Gene]
  • LOC129929121:ATAC-STARR-seq lymphoblastoid silent region 69 [Gene]
  • LOC129929062:ATAC-STARR-seq lymphoblastoid silent region 6 [Gene]
  • LOC129929122:ATAC-STARR-seq lymphoblastoid silent region 70 [Gene]
  • LOC129929123:ATAC-STARR-seq lymphoblastoid silent region 71 [Gene]
  • LOC129929130:ATAC-STARR-seq lymphoblastoid silent region 75 [Gene]
  • LOC129929131:ATAC-STARR-seq lymphoblastoid silent region 76 [Gene]
  • LOC129929133:ATAC-STARR-seq lymphoblastoid silent region 77 [Gene]
  • LOC129929134:ATAC-STARR-seq lymphoblastoid silent region 78 [Gene]
  • LOC129929135:ATAC-STARR-seq lymphoblastoid silent region 79 [Gene]
  • LOC129929138:ATAC-STARR-seq lymphoblastoid silent region 80 [Gene]
  • LOC129929140:ATAC-STARR-seq lymphoblastoid silent region 83 [Gene]
  • LOC129929141:ATAC-STARR-seq lymphoblastoid silent region 84 [Gene]
  • LOC129929145:ATAC-STARR-seq lymphoblastoid silent region 88 [Gene]
  • LOC129929147:ATAC-STARR-seq lymphoblastoid silent region 89 [Gene]
  • LOC129929064:ATAC-STARR-seq lymphoblastoid silent region 8 [Gene]
  • LOC129929148:ATAC-STARR-seq lymphoblastoid silent region 90 [Gene]
  • LOC129929154:ATAC-STARR-seq lymphoblastoid silent region 91 [Gene]
  • LOC129929161:ATAC-STARR-seq lymphoblastoid silent region 92 [Gene]
  • LOC129929162:ATAC-STARR-seq lymphoblastoid silent region 93 [Gene]
  • LOC129929163:ATAC-STARR-seq lymphoblastoid silent region 94 [Gene]
  • LOC129929164:ATAC-STARR-seq lymphoblastoid silent region 95 [Gene]
  • LOC129929165:ATAC-STARR-seq lymphoblastoid silent region 96 [Gene]
  • LOC129929166:ATAC-STARR-seq lymphoblastoid silent region 97 [Gene]
  • LOC129929168:ATAC-STARR-seq lymphoblastoid silent region 98 [Gene]
  • LOC129929065:ATAC-STARR-seq lymphoblastoid silent region 9 [Gene]
  • ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
  • ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
  • ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
  • ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene - HGNC]
  • LOC126805577:BRD4-independent group 4 enhancer GRCh37_chr1:1199775-1200974 [Gene]
  • LOC126805585:BRD4-independent group 4 enhancer GRCh37_chr1:3215870-3217069 [Gene]
  • LOC126805587:BRD4-independent group 4 enhancer GRCh37_chr1:3747165-3748364 [Gene]
  • LOC126805588:BRD4-independent group 4 enhancer GRCh37_chr1:4170302-4171501 [Gene]
  • LOC126805590:BRD4-independent group 4 enhancer GRCh37_chr1:5025208-5026407 [Gene]
  • LOC126805591:BRD4-independent group 4 enhancer GRCh37_chr1:5045612-5046811 [Gene]
  • C1QTNF12:C1q and TNF related 12 [Gene - OMIM - HGNC]
  • LOC126805578:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:1919795-1920994 [Gene]
  • LOC126805579:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2211723-2212922 [Gene]
  • LOC126805580:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2430511-2431710 [Gene]
  • LOC126805582:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:2824551-2825750 [Gene]
  • LOC126805583:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3080396-3081595 [Gene]
  • LOC126805584:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3191818-3193017 [Gene]
  • LOC112577579:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3229262-3230461 [Gene]
  • LOC126805586:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:3745882-3747081 [Gene]
  • LOC110599576:CEB15 minisatellite repeat instability region [Gene]
  • LOC115801415:CRISPRi-validated cis-regulatory element chr1.97 [Gene]
  • DFFB:DNA fragmentation factor subunit beta [Gene - OMIM - HGNC]
  • FAAP20:FA core complex associated protein 20 [Gene - OMIM - HGNC]
  • GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
  • GNB1-DT:GNB1 divergent transcript [Gene - HGNC]
  • ISG15:ISG15 ubiquitin like modifier [Gene - OMIM - HGNC]
  • LOC126805581:MED14-independent group 3 enhancer GRCh37_chr1:2481723-2482922 [Gene]
  • LOC108281140:MEGF6 intron CAGE-defined mid-level expression enhancer [Gene]
  • MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • MMEL1-AS1:MMEL1 antisense RNA 1 [Gene - HGNC]
  • MORN1:MORN repeat containing 1 [Gene - HGNC]
  • LOC128505377:MPRA functional variant 1:3691528:A:G red blood cell enhancer [Gene]
  • LOC129388422:MPRA-validated peak11 silencer [Gene]
  • LOC129388423:MPRA-validated peak16 silencer [Gene]
  • LOC129388424:MPRA-validated peak19 silencer [Gene]
  • LOC129388425:MPRA-validated peak22 silencer [Gene]
  • LOC129388419:MPRA-validated peak5 silencer [Gene]
  • LOC129388420:MPRA-validated peak6 silencer [Gene]
  • LOC129388421:MPRA-validated peak7 silencer [Gene]
  • MRPL20-AS1:MRPL20 antisense RNA 1 [Gene - HGNC]
  • MRPL20-DT:MRPL20 divergent transcript [Gene - HGNC]
  • NADK:NAD kinase [Gene - OMIM - HGNC]
  • NOC2L:NOC2 like nucleolar associated transcriptional repressor [Gene - OMIM - HGNC]
  • LOC132088605:Neanderthal introgressed variant-containing enhancer experimental_1556 [Gene]
  • LOC132088687:Neanderthal introgressed variant-containing enhancer experimental_6521 [Gene]
  • LOC132088688:Neanderthal introgressed variant-containing enhancer experimental_6546 [Gene]
  • LOC132088689:Neanderthal introgressed variant-containing enhancer experimental_6552 [Gene]
  • LOC132088690:Neanderthal introgressed variant-containing enhancer experimental_6604 [Gene]
  • LOC132088694:Neanderthal introgressed variant-containing enhancer experimental_6702 [Gene]
  • LOC132090658:Neanderthal introgressed variant-containing enhancer experimental_6721 [Gene]
  • LOC132088704:Neanderthal introgressed variant-containing enhancer experimental_7120 [Gene]
  • LOC132088707:Neanderthal introgressed variant-containing enhancer experimental_7326 [Gene]
  • LOC132088708:Neanderthal introgressed variant-containing enhancer experimental_7436 [Gene]
  • LOC132088720:Neanderthal introgressed variant-containing enhancer experimental_8096 [Gene]
  • LOC132205951:Neanderthal introgressed variant-containing enhancers experimental_7992 and experimental_7995 [Gene]
  • LOC112577524:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:2186989-2188188 [Gene]
  • LOC126805589:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:4440066-4441265 [Gene]
  • LOC126805576:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:956772-957971 [Gene]
  • PERM1:PPARGC1 and ESRR induced regulator, muscle 1 [Gene - OMIM - HGNC]
  • PRDM16:PR/SET domain 16 [Gene - OMIM - HGNC]
  • PRDM16-DT:PRDM16 divergent transcript [Gene - HGNC]
  • PRKCZ-AS1:PRKCZ antisense RNA 1 [Gene - HGNC]
  • PRKCZ-DT:PRKCZ divergent transcript [Gene - HGNC]
  • ARHGEF16:Rho guanine nucleotide exchange factor 16 [Gene - OMIM - HGNC]
  • SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
  • SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
  • LOC121967052:Sharpr-MPRA regulatory region 10388 [Gene]
  • LOC121967045:Sharpr-MPRA regulatory region 10763 [Gene]
  • LOC112577578:Sharpr-MPRA regulatory region 1148 [Gene]
  • LOC121967050:Sharpr-MPRA regulatory region 11692 [Gene]
  • LOC121967048:Sharpr-MPRA regulatory region 11961 [Gene]
  • LOC112577469:Sharpr-MPRA regulatory region 13538 [Gene]
  • LOC121677383:Sharpr-MPRA regulatory region 13638 [Gene]
  • LOC112577525:Sharpr-MPRA regulatory region 13804 [Gene]
  • LOC121967046:Sharpr-MPRA regulatory region 14484 [Gene]
  • LOC121677382:Sharpr-MPRA regulatory region 15043 [Gene]
  • LOC121967051:Sharpr-MPRA regulatory region 15700 [Gene]
  • LOC121967044:Sharpr-MPRA regulatory region 185 [Gene]
  • LOC112577581:Sharpr-MPRA regulatory region 1968 [Gene]
  • LOC120851201:Sharpr-MPRA regulatory region 1987 [Gene]
  • LOC121967049:Sharpr-MPRA regulatory region 2016 [Gene]
  • LOC121967042:Sharpr-MPRA regulatory region 3626 [Gene]
  • LOC121967047:Sharpr-MPRA regulatory region 3728 [Gene]
  • LOC121677384:Sharpr-MPRA regulatory region 4254 [Gene]
  • LOC121967043:Sharpr-MPRA regulatory region 8235 [Gene]
  • TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
  • TNFRSF18:TNF receptor superfamily member 18 [Gene - OMIM - HGNC]
  • TNFRSF4:TNF receptor superfamily member 4 [Gene - OMIM - HGNC]
  • TNFRSF14-AS1:TNFRSF14 antisense RNA 1 [Gene - HGNC]
  • TP73-AS1:TP73 antisense RNA 1 [Gene - HGNC]
  • TP73-AS2:TP73 antisense RNA 2 [Gene - HGNC]
  • TP73-AS3:TP73 antisense RNA 3 [Gene - HGNC]
  • TTLL10-AS1:TTLL10 antisense RNA 1 [Gene - HGNC]
  • LOC110121223:VISTA enhancer hs1912 [Gene]
  • LOC110120751:VISTA enhancer hs705 [Gene]
  • WRAP73:WD repeat containing, antisense to TP73 [Gene - OMIM - HGNC]
  • ACTRT2:actin related protein T2 [Gene - OMIM - HGNC]
  • AJAP1:adherens junctions associated protein 1 [Gene - OMIM - HGNC]
  • AGRN:agrin [Gene - OMIM - HGNC]
  • ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
  • B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
  • CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
  • CEP104:centrosomal protein 104 [Gene - OMIM - HGNC]
  • CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM - HGNC]
  • C1orf159:chromosome 1 open reading frame 159 [Gene - HGNC]
  • C1orf174:chromosome 1 open reading frame 174 [Gene - HGNC]
  • CFAP74:cilia and flagella associated protein 74 [Gene - OMIM - HGNC]
  • CCDC27:coiled-coil domain containing 27 [Gene - HGNC]
  • LOC107985728:collagen alpha-1(III) chain-like [Gene]
  • LOC106783496:conserved acetylation island sequence 30 enhancer [Gene]
  • CCNL2:cyclin L2 [Gene - OMIM - HGNC]
  • CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
  • CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
  • DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
  • FAM41C:family with sequence similarity 41 member C [Gene - HGNC]
  • FAM87B:family with sequence similarity 87 member B [Gene - HGNC]
  • FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
  • GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
  • HES4:hes family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
  • INTS11:integrator complex subunit 11 [Gene - OMIM - HGNC]
  • KLHL17:kelch like family member 17 [Gene - OMIM - HGNC]
  • LRRC47:leucine rich repeat containing 47 [Gene - OMIM - HGNC]
  • LINC01128:long intergenic non-protein coding RNA 1128 [Gene - HGNC]
  • LINC01134:long intergenic non-protein coding RNA 1134 [Gene - HGNC]
  • LINC00115:long intergenic non-protein coding RNA 115 [Gene - HGNC]
  • LINC01342:long intergenic non-protein coding RNA 1342 [Gene - HGNC]
  • LINC01345:long intergenic non-protein coding RNA 1345 [Gene - HGNC]
  • LINC01346:long intergenic non-protein coding RNA 1346 [Gene - HGNC]
  • LINC01409:long intergenic non-protein coding RNA 1409 [Gene - HGNC]
  • LINC01646:long intergenic non-protein coding RNA 1646 [Gene - HGNC]
  • LINC01770:long intergenic non-protein coding RNA 1770 [Gene - HGNC]
  • LINC01777:long intergenic non-protein coding RNA 1777 [Gene - HGNC]
  • LINC01786:long intergenic non-protein coding RNA 1786 [Gene - HGNC]
  • LINC02593:long intergenic non-protein coding RNA 2593 [Gene - HGNC]
  • LINC02780:long intergenic non-protein coding RNA 2780 [Gene - HGNC]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
  • MXRA8:matrix remodeling associated 8 [Gene - OMIM - HGNC]
  • MMEL1:membrane metalloendopeptidase like 1 [Gene - OMIM - HGNC]
  • MIR200A:microRNA 200a [Gene - OMIM - HGNC]
  • MIR200B:microRNA 200b [Gene - OMIM - HGNC]
  • MIR4251:microRNA 4251 [Gene - HGNC]
  • MIR429:microRNA 429 [Gene - OMIM - HGNC]
  • MIR551A:microRNA 551a [Gene - OMIM - HGNC]
  • MIR6726:microRNA 6726 [Gene - HGNC]
  • MIR6727:microRNA 6727 [Gene - HGNC]
  • MIR6808:microRNA 6808 [Gene - HGNC]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
  • MEGF6:multiple EGF like domains 6 [Gene - OMIM - HGNC]
  • PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
  • PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
  • PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
  • PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
  • PLEKHN1:pleckstrin homology domain containing N1 [Gene - HGNC]
  • PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
  • PUSL1:pseudouridine synthase like 1 [Gene - HGNC]
  • RER1:retention in endoplasmic reticulum sorting receptor 1 [Gene - OMIM - HGNC]
  • RNF223:ring finger protein 223 [Gene - HGNC]
  • SMIM1:small integral membrane protein 1 (Vel blood group) [Gene - OMIM - HGNC]
  • SNORD167:small nucleolar RNA, C/D box 167 [Gene - HGNC]
  • SCNN1D:sodium channel epithelial 1 subunit delta [Gene - OMIM - HGNC]
  • SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
  • SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
  • SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]
  • SDF4:stromal cell derived factor 4 [Gene - OMIM - HGNC]
  • TAS1R3:taste 1 receptor member 3 [Gene - OMIM - HGNC]
  • TTC34:tetratricopeptide repeat domain 34 [Gene - HGNC]
  • LOC124903827:translation initiation factor IF-2 [Gene]
  • TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
  • TMEM52:transmembrane protein 52 [Gene - HGNC]
  • TMEM88B:transmembrane protein 88B [Gene - HGNC]
  • TTLL10:tubulin tyrosine ligase like 10 [Gene - HGNC]
  • TPRG1L:tumor protein p63 regulated 1 like [Gene - OMIM - HGNC]
  • TP73:tumor protein p73 [Gene - OMIM - HGNC]
  • UBE2J2:ubiquitin conjugating enzyme E2 J2 [Gene - OMIM - HGNC]
  • LOC100288175:uncharacterized LOC100288175 [Gene]
  • LOC100996583:uncharacterized LOC100996583 [Gene]
  • LOC105378586:uncharacterized LOC105378586 [Gene]
  • LOC105378604:uncharacterized LOC105378604 [Gene]
  • LOC105378948:uncharacterized LOC105378948 [Gene]
  • LOC112268219:uncharacterized LOC112268219 [Gene]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p36.33-36.32
Genomic location:
Preferred name:
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3
HGVS:
  • NC_000001.11:g.(?_792758)_(5006311_?)dup
  • NC_000001.10:g.(?_728138)_(5066371_?)dup
  • NC_000001.9:g.(?_718001)_(4966231_?)dup
Links:
dbVar: nssv578501; dbVar: nsv530300
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
SCV000079127GeneDx
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, SCV000079127.5

#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