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GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 20, 2012
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:
RCV000138186.5

Allele description [Variation Report for GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1]

GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1

Genes:
  • LOC108004531:3q13.2-q13.31 proximal HERV-H recombination region [Gene]
  • ABI3BP:ABI family member 3 binding protein [Gene - OMIM - HGNC]
  • ARL6:ADP ribosylation factor like GTPase 6 [Gene - OMIM - HGNC]
  • LOC129937105:ATAC-STARR-seq lymphoblastoid active region 20128 [Gene]
  • LOC129937107:ATAC-STARR-seq lymphoblastoid active region 20129 [Gene]
  • LOC129937108:ATAC-STARR-seq lymphoblastoid active region 20130 [Gene]
  • LOC129937109:ATAC-STARR-seq lymphoblastoid active region 20131 [Gene]
  • LOC129937110:ATAC-STARR-seq lymphoblastoid active region 20132 [Gene]
  • LOC129937112:ATAC-STARR-seq lymphoblastoid active region 20135 [Gene]
  • LOC129937115:ATAC-STARR-seq lymphoblastoid active region 20137 [Gene]
  • LOC129937118:ATAC-STARR-seq lymphoblastoid active region 20138 [Gene]
  • LOC129937119:ATAC-STARR-seq lymphoblastoid active region 20141 [Gene]
  • LOC129937122:ATAC-STARR-seq lymphoblastoid active region 20142 [Gene]
  • LOC129937123:ATAC-STARR-seq lymphoblastoid active region 20143 [Gene]
  • LOC129937124:ATAC-STARR-seq lymphoblastoid active region 20144 [Gene]
  • LOC129937126:ATAC-STARR-seq lymphoblastoid active region 20145 [Gene]
  • LOC129937127:ATAC-STARR-seq lymphoblastoid active region 20146 [Gene]
  • LOC129937128:ATAC-STARR-seq lymphoblastoid active region 20147 [Gene]
  • LOC129937129:ATAC-STARR-seq lymphoblastoid active region 20148 [Gene]
  • LOC129937133:ATAC-STARR-seq lymphoblastoid active region 20150 [Gene]
  • LOC129937136:ATAC-STARR-seq lymphoblastoid active region 20151 [Gene]
  • LOC129937138:ATAC-STARR-seq lymphoblastoid active region 20153 [Gene]
  • LOC129937139:ATAC-STARR-seq lymphoblastoid active region 20154 [Gene]
  • LOC129937140:ATAC-STARR-seq lymphoblastoid active region 20155 [Gene]
  • LOC129937142:ATAC-STARR-seq lymphoblastoid active region 20157 [Gene]
  • LOC129937143:ATAC-STARR-seq lymphoblastoid active region 20158 [Gene]
  • LOC129937144:ATAC-STARR-seq lymphoblastoid active region 20159 [Gene]
  • LOC129937148:ATAC-STARR-seq lymphoblastoid active region 20161 [Gene]
  • LOC129937149:ATAC-STARR-seq lymphoblastoid active region 20162 [Gene]
  • LOC129937150:ATAC-STARR-seq lymphoblastoid active region 20163 [Gene]
  • LOC129937151:ATAC-STARR-seq lymphoblastoid active region 20164 [Gene]
  • LOC129937152:ATAC-STARR-seq lymphoblastoid active region 20165 [Gene]
  • LOC129937153:ATAC-STARR-seq lymphoblastoid active region 20166 [Gene]
  • LOC129937154:ATAC-STARR-seq lymphoblastoid active region 20169 [Gene]
  • LOC129937155:ATAC-STARR-seq lymphoblastoid active region 20170 [Gene]
  • LOC129937156:ATAC-STARR-seq lymphoblastoid active region 20171 [Gene]
  • LOC129937157:ATAC-STARR-seq lymphoblastoid active region 20172 [Gene]
  • LOC129937158:ATAC-STARR-seq lymphoblastoid active region 20173 [Gene]
  • LOC129937159:ATAC-STARR-seq lymphoblastoid active region 20176 [Gene]
  • LOC129937160:ATAC-STARR-seq lymphoblastoid active region 20177 [Gene]
  • LOC129937161:ATAC-STARR-seq lymphoblastoid active region 20178 [Gene]
  • LOC129937162:ATAC-STARR-seq lymphoblastoid active region 20179 [Gene]
  • LOC129937163:ATAC-STARR-seq lymphoblastoid active region 20180 [Gene]
  • LOC129937165:ATAC-STARR-seq lymphoblastoid active region 20181 [Gene]
  • LOC129937166:ATAC-STARR-seq lymphoblastoid active region 20182 [Gene]
  • LOC129937167:ATAC-STARR-seq lymphoblastoid active region 20183 [Gene]
  • LOC129937168:ATAC-STARR-seq lymphoblastoid active region 20184 [Gene]
  • LOC129937169:ATAC-STARR-seq lymphoblastoid active region 20185 [Gene]
  • LOC129937170:ATAC-STARR-seq lymphoblastoid active region 20186 [Gene]
  • LOC129937171:ATAC-STARR-seq lymphoblastoid active region 20187 [Gene]
  • LOC129937172:ATAC-STARR-seq lymphoblastoid active region 20188 [Gene]
  • LOC129937173:ATAC-STARR-seq lymphoblastoid active region 20189 [Gene]
  • LOC129937174:ATAC-STARR-seq lymphoblastoid active region 20190 [Gene]
  • LOC129937175:ATAC-STARR-seq lymphoblastoid active region 20191 [Gene]
  • LOC129937176:ATAC-STARR-seq lymphoblastoid active region 20192 [Gene]
  • LOC129937179:ATAC-STARR-seq lymphoblastoid active region 20195 [Gene]
  • LOC129937181:ATAC-STARR-seq lymphoblastoid active region 20196 [Gene]
  • LOC129937182:ATAC-STARR-seq lymphoblastoid active region 20197 [Gene]
  • LOC129937183:ATAC-STARR-seq lymphoblastoid active region 20198 [Gene]
  • LOC129937185:ATAC-STARR-seq lymphoblastoid active region 20199 [Gene]
  • LOC129937186:ATAC-STARR-seq lymphoblastoid active region 20200 [Gene]
  • LOC129937188:ATAC-STARR-seq lymphoblastoid active region 20201 [Gene]
  • LOC129937191:ATAC-STARR-seq lymphoblastoid active region 20202 [Gene]
  • LOC129937192:ATAC-STARR-seq lymphoblastoid active region 20203 [Gene]
  • LOC129937197:ATAC-STARR-seq lymphoblastoid active region 20204 [Gene]
  • LOC129937198:ATAC-STARR-seq lymphoblastoid active region 20207 [Gene]
  • LOC129937203:ATAC-STARR-seq lymphoblastoid active region 20208 [Gene]
  • LOC129937204:ATAC-STARR-seq lymphoblastoid active region 20212 [Gene]
  • LOC129937205:ATAC-STARR-seq lymphoblastoid active region 20213 [Gene]
  • LOC129937206:ATAC-STARR-seq lymphoblastoid active region 20214 [Gene]
  • LOC129937208:ATAC-STARR-seq lymphoblastoid active region 20215 [Gene]
  • LOC129937209:ATAC-STARR-seq lymphoblastoid active region 20216 [Gene]
  • LOC129937211:ATAC-STARR-seq lymphoblastoid active region 20218 [Gene]
  • LOC129937212:ATAC-STARR-seq lymphoblastoid active region 20219 [Gene]
  • LOC129937213:ATAC-STARR-seq lymphoblastoid active region 20220 [Gene]
  • LOC129937214:ATAC-STARR-seq lymphoblastoid active region 20221 [Gene]
  • LOC129937215:ATAC-STARR-seq lymphoblastoid active region 20222 [Gene]
  • LOC129937216:ATAC-STARR-seq lymphoblastoid active region 20223 [Gene]
  • LOC129937218:ATAC-STARR-seq lymphoblastoid active region 20224 [Gene]
  • LOC129937219:ATAC-STARR-seq lymphoblastoid active region 20225 [Gene]
  • LOC129937220:ATAC-STARR-seq lymphoblastoid active region 20226 [Gene]
  • LOC129937221:ATAC-STARR-seq lymphoblastoid active region 20229 [Gene]
  • LOC129937222:ATAC-STARR-seq lymphoblastoid active region 20230 [Gene]
  • LOC129937223:ATAC-STARR-seq lymphoblastoid active region 20231 [Gene]
  • LOC129937224:ATAC-STARR-seq lymphoblastoid active region 20232 [Gene]
  • LOC129937225:ATAC-STARR-seq lymphoblastoid active region 20233 [Gene]
  • LOC129937226:ATAC-STARR-seq lymphoblastoid active region 20234 [Gene]
  • LOC129937227:ATAC-STARR-seq lymphoblastoid active region 20235 [Gene]
  • LOC129937228:ATAC-STARR-seq lymphoblastoid active region 20236 [Gene]
  • LOC129937229:ATAC-STARR-seq lymphoblastoid active region 20237 [Gene]
  • LOC129937231:ATAC-STARR-seq lymphoblastoid active region 20238 [Gene]
  • LOC129937232:ATAC-STARR-seq lymphoblastoid active region 20239 [Gene]
  • LOC129937233:ATAC-STARR-seq lymphoblastoid active region 20240 [Gene]
  • LOC129937235:ATAC-STARR-seq lymphoblastoid active region 20241 [Gene]
  • LOC129937236:ATAC-STARR-seq lymphoblastoid active region 20242 [Gene]
  • LOC129937237:ATAC-STARR-seq lymphoblastoid active region 20243 [Gene]
  • LOC129937238:ATAC-STARR-seq lymphoblastoid active region 20244 [Gene]
  • LOC129937239:ATAC-STARR-seq lymphoblastoid active region 20245 [Gene]
  • LOC129937240:ATAC-STARR-seq lymphoblastoid active region 20247 [Gene]
  • LOC129937242:ATAC-STARR-seq lymphoblastoid active region 20248 [Gene]
  • LOC129937243:ATAC-STARR-seq lymphoblastoid active region 20249 [Gene]
  • LOC129937244:ATAC-STARR-seq lymphoblastoid active region 20250 [Gene]
  • LOC129937245:ATAC-STARR-seq lymphoblastoid active region 20251 [Gene]
  • LOC129937246:ATAC-STARR-seq lymphoblastoid active region 20252 [Gene]
  • LOC129937247:ATAC-STARR-seq lymphoblastoid active region 20253 [Gene]
  • LOC129937248:ATAC-STARR-seq lymphoblastoid active region 20254 [Gene]
  • LOC129937249:ATAC-STARR-seq lymphoblastoid active region 20255 [Gene]
  • LOC129937250:ATAC-STARR-seq lymphoblastoid active region 20256 [Gene]
  • LOC129937251:ATAC-STARR-seq lymphoblastoid active region 20257 [Gene]
  • LOC129937252:ATAC-STARR-seq lymphoblastoid active region 20258 [Gene]
  • LOC129937253:ATAC-STARR-seq lymphoblastoid active region 20259 [Gene]
  • LOC129937255:ATAC-STARR-seq lymphoblastoid active region 20260 [Gene]
  • LOC129937259:ATAC-STARR-seq lymphoblastoid active region 20263 [Gene]
  • LOC129937262:ATAC-STARR-seq lymphoblastoid active region 20264 [Gene]
  • LOC129937263:ATAC-STARR-seq lymphoblastoid active region 20265 [Gene]
  • LOC129937264:ATAC-STARR-seq lymphoblastoid active region 20266 [Gene]
  • LOC129937265:ATAC-STARR-seq lymphoblastoid active region 20267 [Gene]
  • LOC129937266:ATAC-STARR-seq lymphoblastoid active region 20268 [Gene]
  • LOC129937267:ATAC-STARR-seq lymphoblastoid active region 20270 [Gene]
  • LOC129937268:ATAC-STARR-seq lymphoblastoid active region 20271 [Gene]
  • LOC129937269:ATAC-STARR-seq lymphoblastoid active region 20272 [Gene]
  • LOC129937270:ATAC-STARR-seq lymphoblastoid active region 20273 [Gene]
  • LOC129937271:ATAC-STARR-seq lymphoblastoid active region 20274 [Gene]
  • LOC129937272:ATAC-STARR-seq lymphoblastoid active region 20275 [Gene]
  • LOC129937273:ATAC-STARR-seq lymphoblastoid active region 20276 [Gene]
  • LOC129937274:ATAC-STARR-seq lymphoblastoid active region 20277 [Gene]
  • LOC129937276:ATAC-STARR-seq lymphoblastoid active region 20278 [Gene]
  • LOC129937277:ATAC-STARR-seq lymphoblastoid active region 20279 [Gene]
  • LOC129937278:ATAC-STARR-seq lymphoblastoid active region 20280 [Gene]
  • LOC129937281:ATAC-STARR-seq lymphoblastoid active region 20281 [Gene]
  • LOC129937283:ATAC-STARR-seq lymphoblastoid active region 20282 [Gene]
  • LOC129937284:ATAC-STARR-seq lymphoblastoid active region 20283 [Gene]
  • LOC129937285:ATAC-STARR-seq lymphoblastoid active region 20284 [Gene]
  • LOC129937104:ATAC-STARR-seq lymphoblastoid silent region 14552 [Gene]
  • LOC129937106:ATAC-STARR-seq lymphoblastoid silent region 14553 [Gene]
  • LOC129937111:ATAC-STARR-seq lymphoblastoid silent region 14554 [Gene]
  • LOC129937113:ATAC-STARR-seq lymphoblastoid silent region 14555 [Gene]
  • LOC129937114:ATAC-STARR-seq lymphoblastoid silent region 14556 [Gene]
  • LOC129937116:ATAC-STARR-seq lymphoblastoid silent region 14557 [Gene]
  • LOC129937117:ATAC-STARR-seq lymphoblastoid silent region 14558 [Gene]
  • LOC129937120:ATAC-STARR-seq lymphoblastoid silent region 14559 [Gene]
  • LOC129937121:ATAC-STARR-seq lymphoblastoid silent region 14560 [Gene]
  • LOC129937125:ATAC-STARR-seq lymphoblastoid silent region 14561 [Gene]
  • LOC129937130:ATAC-STARR-seq lymphoblastoid silent region 14564 [Gene]
  • LOC129937131:ATAC-STARR-seq lymphoblastoid silent region 14565 [Gene]
  • LOC129937132:ATAC-STARR-seq lymphoblastoid silent region 14566 [Gene]
  • LOC129937134:ATAC-STARR-seq lymphoblastoid silent region 14567 [Gene]
  • LOC129937135:ATAC-STARR-seq lymphoblastoid silent region 14568 [Gene]
  • LOC129937137:ATAC-STARR-seq lymphoblastoid silent region 14569 [Gene]
  • LOC129937141:ATAC-STARR-seq lymphoblastoid silent region 14571 [Gene]
  • LOC129937145:ATAC-STARR-seq lymphoblastoid silent region 14572 [Gene]
  • LOC129937146:ATAC-STARR-seq lymphoblastoid silent region 14573 [Gene]
  • LOC129937147:ATAC-STARR-seq lymphoblastoid silent region 14574 [Gene]
  • LOC129937164:ATAC-STARR-seq lymphoblastoid silent region 14578 [Gene]
  • LOC129937177:ATAC-STARR-seq lymphoblastoid silent region 14580 [Gene]
  • LOC129937178:ATAC-STARR-seq lymphoblastoid silent region 14581 [Gene]
  • LOC129937180:ATAC-STARR-seq lymphoblastoid silent region 14582 [Gene]
  • LOC129937184:ATAC-STARR-seq lymphoblastoid silent region 14583 [Gene]
  • LOC129937187:ATAC-STARR-seq lymphoblastoid silent region 14584 [Gene]
  • LOC129937189:ATAC-STARR-seq lymphoblastoid silent region 14585 [Gene]
  • LOC129937190:ATAC-STARR-seq lymphoblastoid silent region 14586 [Gene]
  • LOC129937193:ATAC-STARR-seq lymphoblastoid silent region 14587 [Gene]
  • LOC129937194:ATAC-STARR-seq lymphoblastoid silent region 14588 [Gene]
  • LOC129937195:ATAC-STARR-seq lymphoblastoid silent region 14589 [Gene]
  • LOC129937196:ATAC-STARR-seq lymphoblastoid silent region 14590 [Gene]
  • LOC129937199:ATAC-STARR-seq lymphoblastoid silent region 14591 [Gene]
  • LOC129937200:ATAC-STARR-seq lymphoblastoid silent region 14592 [Gene]
  • LOC129937201:ATAC-STARR-seq lymphoblastoid silent region 14593 [Gene]
  • LOC129937202:ATAC-STARR-seq lymphoblastoid silent region 14594 [Gene]
  • LOC129937207:ATAC-STARR-seq lymphoblastoid silent region 14595 [Gene]
  • LOC129937210:ATAC-STARR-seq lymphoblastoid silent region 14596 [Gene]
  • LOC129937217:ATAC-STARR-seq lymphoblastoid silent region 14597 [Gene]
  • LOC129937230:ATAC-STARR-seq lymphoblastoid silent region 14603 [Gene]
  • LOC129937234:ATAC-STARR-seq lymphoblastoid silent region 14604 [Gene]
  • LOC129937241:ATAC-STARR-seq lymphoblastoid silent region 14605 [Gene]
  • LOC129937254:ATAC-STARR-seq lymphoblastoid silent region 14606 [Gene]
  • LOC129937256:ATAC-STARR-seq lymphoblastoid silent region 14607 [Gene]
  • LOC129937257:ATAC-STARR-seq lymphoblastoid silent region 14608 [Gene]
  • LOC129937258:ATAC-STARR-seq lymphoblastoid silent region 14609 [Gene]
  • LOC129937260:ATAC-STARR-seq lymphoblastoid silent region 14611 [Gene]
  • LOC129937261:ATAC-STARR-seq lymphoblastoid silent region 14613 [Gene]
  • LOC129937275:ATAC-STARR-seq lymphoblastoid silent region 14614 [Gene]
  • LOC129937279:ATAC-STARR-seq lymphoblastoid silent region 14615 [Gene]
  • LOC129937280:ATAC-STARR-seq lymphoblastoid silent region 14616 [Gene]
  • LOC129937282:ATAC-STARR-seq lymphoblastoid silent region 14617 [Gene]
  • LOC129937286:ATAC-STARR-seq lymphoblastoid silent region 14618 [Gene]
  • ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]
  • BTLA:B and T lymphocyte associated [Gene - OMIM - HGNC]
  • BBX:BBX high mobility group box domain containing [Gene - HGNC]
  • BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • LOC126806751:BRD4-independent group 4 enhancer GRCh37_chr3:101405139-101406338 [Gene]
  • LOC126806758:BRD4-independent group 4 enhancer GRCh37_chr3:106035440-106036639 [Gene]
  • LOC126806760:BRD4-independent group 4 enhancer GRCh37_chr3:107849902-107851101 [Gene]
  • LOC126806762:BRD4-independent group 4 enhancer GRCh37_chr3:108462949-108464148 [Gene]
  • LOC126806771:BRD4-independent group 4 enhancer GRCh37_chr3:111637713-111638912 [Gene]
  • LOC126806777:BRD4-independent group 4 enhancer GRCh37_chr3:115003756-115004955 [Gene]
  • CCDC54-AS1:CCDC54 antisense RNA 1 [Gene - HGNC]
  • CD200:CD200 molecule [Gene - OMIM - HGNC]
  • CD200R1L:CD200 receptor 1 like [Gene - HGNC]
  • CD200R1:CD200 receptor 1 [Gene - OMIM - HGNC]
  • CD200R1L-AS1:CD200R1L antisense RNA 1 [Gene - HGNC]
  • CD47:CD47 molecule [Gene - OMIM - HGNC]
  • CD96:CD96 molecule [Gene - OMIM - HGNC]
  • LOC126806755:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:104241405-104242604 [Gene]
  • LOC126806761:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:108095636-108096835 [Gene]
  • LOC126806764:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:109629050-109630249 [Gene]
  • LOC126806773:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:111820488-111821687 [Gene]
  • LOC126806746:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:98043469-98044668 [Gene]
  • LOC126806749:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:99377337-99378536 [Gene]
  • CFAP44-AS1:CFAP44 antisense RNA 1 [Gene - HGNC]
  • LOC115995515:CRISPRi-validated cis-regulatory element chr3.3097 [Gene]
  • LOC115995516:CRISPRi-validated cis-regulatory element chr3.3177 [Gene]
  • CBLB:Cbl proto-oncogene B [Gene - OMIM - HGNC]
  • DZIP3:DAZ interacting zinc finger protein 3 [Gene - OMIM - HGNC]
  • DUBR:DPPA2 upstream binding RNA [Gene - OMIM - HGNC]
  • GPR15:G protein-coupled receptor 15 [Gene - OMIM - HGNC]
  • GRAMD1C:GRAM domain containing 1C [Gene - OMIM - HGNC]
  • GTPBP8:GTP binding protein 8 [Gene - HGNC]
  • HHLA2:HHLA2 member of B7 family [Gene - OMIM - HGNC]
  • LOC126806750:MED14-independent group 3 enhancer GRCh37_chr3:101203214-101204413 [Gene]
  • LOC126806753:MED14-independent group 3 enhancer GRCh37_chr3:101913549-101914748 [Gene]
  • LOC126806754:MED14-independent group 3 enhancer GRCh37_chr3:102017651-102018850 [Gene]
  • LOC126806756:MED14-independent group 3 enhancer GRCh37_chr3:105120863-105122062 [Gene]
  • LOC112848341:MED14-independent group 3 enhancer GRCh37_chr3:107085622-107086821 [Gene]
  • LOC126806767:MED14-independent group 3 enhancer GRCh37_chr3:110764172-110765371 [Gene]
  • LOC126806768:MED14-independent group 3 enhancer GRCh37_chr3:111227353-111228552 [Gene]
  • LOC126806774:MED14-independent group 3 enhancer GRCh37_chr3:112612841-112614040 [Gene]
  • LOC126806775:MED14-independent group 3 enhancer GRCh37_chr3:113993502-113994701 [Gene]
  • MORC1:MORC family CW-type zinc finger 1 [Gene - OMIM - HGNC]
  • MORC1-AS1:MORC1 antisense RNA 1 [Gene - HGNC]
  • LOC129389105:MPRA-validated peak4749 silencer [Gene]
  • LOC129389106:MPRA-validated peak4754 silencer [Gene]
  • LOC129389107:MPRA-validated peak4758 silencer [Gene]
  • LOC129389108:MPRA-validated peak4759 silencer [Gene]
  • LOC129389109:MPRA-validated peak4760 silencer [Gene]
  • LOC129389110:MPRA-validated peak4761 silencer [Gene]
  • LOC129389111:MPRA-validated peak4766 silencer [Gene]
  • LOC129389112:MPRA-validated peak4767 silencer [Gene]
  • NAA50:N-alpha-acetyltransferase 50, NatE catalytic subunit [Gene - OMIM - HGNC]
  • NECTIN3-AS1:NECTIN3 antisense RNA 1 [Gene - HGNC]
  • NEPRO-AS1:NEPRO antisense RNA 1 [Gene - HGNC]
  • NFKBIZ:NFKB inhibitor zeta [Gene - OMIM - HGNC]
  • LOC132088857:Neanderthal introgressed variant-containing enhancer experimental_63759 [Gene]
  • LOC132090698:Neanderthal introgressed variant-containing enhancer experimental_63902 [Gene]
  • LOC132088858:Neanderthal introgressed variant-containing enhancer experimental_64126 [Gene]
  • LOC132088860:Neanderthal introgressed variant-containing enhancer experimental_64338 [Gene]
  • LOC132088861:Neanderthal introgressed variant-containing enhancer experimental_64395 [Gene]
  • LOC132088862:Neanderthal introgressed variant-containing enhancer experimental_64462 [Gene]
  • LOC126806752:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:101421445-101422644 [Gene]
  • LOC126806757:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:105438452-105439651 [Gene]
  • LOC126806759:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:106483746-106484945 [Gene]
  • LOC126806763:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:109525648-109526847 [Gene]
  • LOC126806765:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:109645382-109646581 [Gene]
  • LOC126806766:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:110683374-110684573 [Gene]
  • LOC126806769:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111328685-111329884 [Gene]
  • LOC126806770:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111453476-111454675 [Gene]
  • LOC126806772:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111720792-111721991 [Gene]
  • LOC126806776:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:114958135-114959334 [Gene]
  • LOC126806747:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:98164285-98165484 [Gene]
  • LOC126806748:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:98274627-98275826 [Gene]
  • PCNP:PEST proteolytic signal containing nuclear protein [Gene - OMIM - HGNC]
  • PLCXD2-AS1:PLCXD2 antisense RNA 1 [Gene - HGNC]
  • RDUR:RIG-I dependent antiviral response regulator RNA [Gene - HGNC]
  • SIDT1:SID1 transmembrane family member 1 [Gene - OMIM - HGNC]
  • SIDT1-AS1:SIDT1 antisense RNA 1 [Gene - HGNC]
  • SPICE1-CFAP44:SPICE1-CFAP44 readthrough (NMD candidate) [Gene - HGNC]
  • ST3GAL6:ST3 beta-galactoside alpha-2,3-sialyltransferase 6 [Gene - OMIM - HGNC]
  • ST3GAL6-AS1:ST3GAL6 antisense RNA 1 [Gene - HGNC]
  • SENP7:SUMO specific peptidase 7 [Gene - OMIM - HGNC]
  • LOC123002325:Sharpr-MPRA regulatory region 10497 [Gene]
  • LOC123002322:Sharpr-MPRA regulatory region 1067 [Gene]
  • LOC123002329:Sharpr-MPRA regulatory region 10775 [Gene]
  • LOC121725152:Sharpr-MPRA regulatory region 11159 [Gene]
  • LOC121009683:Sharpr-MPRA regulatory region 1116 [Gene]
  • LOC123002330:Sharpr-MPRA regulatory region 1117 [Gene]
  • LOC123002323:Sharpr-MPRA regulatory region 11515 [Gene]
  • LOC112841610:Sharpr-MPRA regulatory region 11 [Gene]
  • LOC112848343:Sharpr-MPRA regulatory region 12929 [Gene]
  • LOC112935965:Sharpr-MPRA regulatory region 13337 [Gene]
  • LOC123002321:Sharpr-MPRA regulatory region 13899 [Gene]
  • LOC112935966:Sharpr-MPRA regulatory region 14327 [Gene]
  • LOC123002320:Sharpr-MPRA regulatory region 14979 [Gene]
  • LOC123002316:Sharpr-MPRA regulatory region 15587 [Gene]
  • LOC123002317:Sharpr-MPRA regulatory region 1863 [Gene]
  • LOC123002315:Sharpr-MPRA regulatory region 220 [Gene]
  • LOC123002331:Sharpr-MPRA regulatory region 3247 [Gene]
  • LOC121725151:Sharpr-MPRA regulatory region 3286 [Gene]
  • LOC123002318:Sharpr-MPRA regulatory region 4023 [Gene]
  • LOC121725150:Sharpr-MPRA regulatory region 5379 [Gene]
  • LOC123002328:Sharpr-MPRA regulatory region 5857 [Gene]
  • LOC123002327:Sharpr-MPRA regulatory region 705 [Gene]
  • LOC123002319:Sharpr-MPRA regulatory region 7106 [Gene]
  • LOC123002326:Sharpr-MPRA regulatory region 7303 [Gene]
  • LOC112841611:Sharpr-MPRA regulatory region 7874 [Gene]
  • LOC123002324:Sharpr-MPRA regulatory region 9057 [Gene]
  • TIGIT:T cell immunoreceptor with Ig and ITIM domains [Gene - OMIM - HGNC]
  • TRAT1:T cell receptor associated transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • TBC1D23:TBC1 domain family member 23 [Gene - OMIM - HGNC]
  • TBILA:TGF-beta induced lncRNA [Gene - HGNC]
  • LOC110121116:VISTA enhancer hs1469 [Gene]
  • LOC110121175:VISTA enhancer hs1648 [Gene]
  • LOC110121187:VISTA enhancer hs1685 [Gene]
  • LOC110120631:VISTA enhancer hs253 [Gene]
  • ZBTB11-AS1:ZBTB11 antisense RNA 1 [Gene - HGNC]
  • ZBTB20-AS1:ZBTB20 antisense RNA 1 [Gene - HGNC]
  • ZBTB20-AS3:ZBTB20 antisense RNA 3 [Gene - HGNC]
  • ZBTB20-AS4:ZBTB20 antisense RNA 4 [Gene - HGNC]
  • ZBTB20-AS5:ZBTB20 antisense RNA 5 [Gene - HGNC]
  • LOC111255649:ZNF80-LTR promoter [Gene]
  • ABHD10:abhydrolase domain containing 10, depalmitoylase [Gene - OMIM - HGNC]
  • ALCAM:activated leukocyte cell adhesion molecule [Gene - OMIM - HGNC]
  • ADGRG7:adhesion G protein-coupled receptor G7 [Gene - OMIM - HGNC]
  • ATG3:autophagy related 3 [Gene - OMIM - HGNC]
  • CIP2A:cellular inhibitor of PP2A [Gene - OMIM - HGNC]
  • CEP97:centrosomal protein 97 [Gene - OMIM - HGNC]
  • C3orf52:chromosome 3 open reading frame 52 [Gene - OMIM - HGNC]
  • C3orf85:chromosome 3 open reading frame 85 [Gene - HGNC]
  • CFAP44:cilia and flagella associated protein 44 [Gene - OMIM - HGNC]
  • CLDND1:claudin domain containing 1 [Gene - OMIM - HGNC]
  • CMSS1:cms1 ribosomal small subunit homolog [Gene - HGNC]
  • CCDC191:coiled-coil domain containing 191 [Gene - HGNC]
  • CCDC54:coiled-coil domain containing 54 [Gene - HGNC]
  • CCDC80:coiled-coil domain containing 80 [Gene - OMIM - HGNC]
  • COL8A1:collagen type VIII alpha 1 chain [Gene - OMIM - HGNC]
  • CPOX:coproporphyrinogen oxidase [Gene - OMIM - HGNC]
  • CRYBG3:crystallin beta-gamma domain containing 3 [Gene - OMIM - HGNC]
  • DPPA2:developmental pluripotency associated 2 [Gene - OMIM - HGNC]
  • DPPA4:developmental pluripotency associated 4 [Gene - OMIM - HGNC]
  • DCBLD2:discoidin, CUB and LCCL domain containing 2 [Gene - OMIM - HGNC]
  • DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
  • FILIP1L:filamin A interacting protein 1 like [Gene - OMIM - HGNC]
  • GABRR3:gamma-aminobutyric acid type A receptor subunit rho3 [Gene - OMIM - HGNC]
  • GCSAM:germinal center associated signaling and motility [Gene - OMIM - HGNC]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • GUCA1C:guanylate cyclase activator 1C [Gene - OMIM - HGNC]
  • IMPG2:interphotoreceptor matrix proteoglycan 2 [Gene - OMIM - HGNC]
  • IFT57:intraflagellar transport 57 [Gene - OMIM - HGNC]
  • LNP1:leukemia NUP98 fusion partner 1 [Gene - HGNC]
  • LOLI1:lncRNA oncogene in liver cancer 1 [Gene - HGNC]
  • LINC01205:long intergenic non-protein coding RNA 1205 [Gene - HGNC]
  • LINC01215:long intergenic non-protein coding RNA 1215 [Gene - HGNC]
  • LINC01990:long intergenic non-protein coding RNA 1990 [Gene - HGNC]
  • LINC02042:long intergenic non-protein coding RNA 2042 [Gene - HGNC]
  • LINC02044:long intergenic non-protein coding RNA 2044 [Gene - HGNC]
  • LINC00488:long intergenic non-protein coding RNA 488 [Gene - HGNC]
  • LINC00635:long intergenic non-protein coding RNA 635 [Gene - HGNC]
  • LINC00636:long intergenic non-protein coding RNA 636 [Gene - HGNC]
  • LINC00882:long intergenic non-protein coding RNA 882 [Gene - HGNC]
  • LINC00973:long intergenic non-protein coding RNA 973 [Gene - HGNC]
  • MIR3921:microRNA 3921 [Gene - HGNC]
  • MIR4445:microRNA 4445 [Gene - HGNC]
  • MIR4446:microRNA 4446 [Gene - HGNC]
  • MIR4796:microRNA 4796 [Gene - HGNC]
  • MIR548AB:microRNA 548ab [Gene - HGNC]
  • MIR567:microRNA 567 [Gene - HGNC]
  • MIR568:microRNA 568 [Gene - HGNC]
  • MIR8076:microRNA 8076 [Gene - HGNC]
  • MIR9900:microRNA 9900 [Gene - HGNC]
  • MYH15:myosin heavy chain 15 [Gene - OMIM - HGNC]
  • NECTIN3:nectin cell adhesion molecule 3 [Gene - OMIM - HGNC]
  • NXPE3:neurexophilin and PC-esterase domain family member 3 [Gene - HGNC]
  • NIT2:nitrilase family member 2 [Gene - OMIM - HGNC]
  • NEPRO:nucleolus and neural progenitor protein [Gene - OMIM - HGNC]
  • OR5AC2:olfactory receptor family 5 subfamily AC member 2 [Gene - HGNC]
  • OR5H14:olfactory receptor family 5 subfamily H member 14 [Gene - HGNC]
  • OR5H15:olfactory receptor family 5 subfamily H member 15 [Gene - HGNC]
  • OR5H1:olfactory receptor family 5 subfamily H member 1 [Gene - HGNC]
  • OR5H2:olfactory receptor family 5 subfamily H member 2 [Gene - HGNC]
  • OR5H6:olfactory receptor family 5 subfamily H member 6 [Gene - HGNC]
  • OR5K1:olfactory receptor family 5 subfamily K member 1 [Gene - HGNC]
  • OR5K2:olfactory receptor family 5 subfamily K member 2 [Gene - HGNC]
  • OR5K3:olfactory receptor family 5 subfamily K member 3 [Gene - HGNC]
  • OR5K4:olfactory receptor family 5 subfamily K member 4 [Gene - HGNC]
  • PLCXD2:phosphatidylinositol specific phospholipase C X domain containing 2 [Gene - OMIM - HGNC]
  • PHLDB2:pleckstrin homology like domain family B member 2 [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • RETNLB:resistin like beta [Gene - OMIM - HGNC]
  • RIOX2:ribosomal oxygenase 2 [Gene - OMIM - HGNC]
  • RPL24:ribosomal protein L24 [Gene - OMIM - HGNC]
  • SLC35A5:solute carrier family 35 member A5 [Gene - OMIM - HGNC]
  • SLC9C1:solute carrier family 9 member C1 [Gene - OMIM - HGNC]
  • SPICE1:spindle and centriole associated protein 1 [Gene - OMIM - HGNC]
  • TRMT10C:tRNA methyltransferase 10C, mitochondrial RNase P subunit [Gene - OMIM - HGNC]
  • TFG:trafficking from ER to golgi regulator [Gene - OMIM - HGNC]
  • TAGLN3:transgelin 3 [Gene - OMIM - HGNC]
  • TOMM70:translocase of outer mitochondrial membrane 70 [Gene - OMIM - HGNC]
  • TMEM45A:transmembrane protein 45A [Gene - OMIM - HGNC]
  • TMPRSS7:transmembrane serine protease 7 [Gene - HGNC]
  • HP09053:uncharacterized LOC101929357 [Gene]
  • LOC101929411:uncharacterized LOC101929411 [Gene]
  • LOC105374002:uncharacterized LOC105374002 [Gene]
  • LOC105374010:uncharacterized LOC105374010 [Gene]
  • LOC105374042:uncharacterized LOC105374042 [Gene]
  • USF3:upstream transcription factor family member 3 [Gene - OMIM - HGNC]
  • ZBED2:zinc finger BED-type containing 2 [Gene - OMIM - HGNC]
  • ZDHHC23:zinc finger DHHC-type palmitoyltransferase 23 [Gene - OMIM - HGNC]
  • ZBTB11:zinc finger and BTB domain containing 11 [Gene - OMIM - HGNC]
  • ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]
  • ZNF80:zinc finger protein 80 [Gene - OMIM - HGNC]
  • ZPLD1:zona pellucida like domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q11.2-13.31
Genomic location:
Preferred name:
GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1
HGVS:
  • NC_000003.12:g.(?_97795369)_(115663349_?)del
  • NC_000003.10:g.(?_98996903)_(116864886_?)del
  • NC_000003.11:g.(?_97514213)_(115382196_?)del
Links:
dbVar: nssv1494864; dbVar: nsv869387
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
SCV000178453ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 20, 2012) 		unknownclinical 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

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, SCV000178453.4

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

Last Updated: Sep 1, 2024