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GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 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:
RCV000136878.6

Allele description [Variation Report for GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1]

GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1

Genes:
  • ADAM18:ADAM metallopeptidase domain 18 [Gene - OMIM - HGNC]
  • ADAM2:ADAM metallopeptidase domain 2 [Gene - OMIM - HGNC]
  • ADAM32:ADAM metallopeptidase domain 32 [Gene - OMIM - HGNC]
  • LOC100130964:ADAM metallopeptidase domain 3A-like [Gene]
  • ADAM9:ADAM metallopeptidase domain 9 [Gene - OMIM - HGNC]
  • ASH2L:ASH2 like, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
  • LOC130000138:ATAC-STARR-seq lymphoblastoid active region 27188 [Gene]
  • LOC130000139:ATAC-STARR-seq lymphoblastoid active region 27189 [Gene]
  • LOC130000140:ATAC-STARR-seq lymphoblastoid active region 27190 [Gene]
  • LOC130000141:ATAC-STARR-seq lymphoblastoid active region 27191 [Gene]
  • LOC130000142:ATAC-STARR-seq lymphoblastoid active region 27192 [Gene]
  • LOC130000143:ATAC-STARR-seq lymphoblastoid active region 27193 [Gene]
  • LOC130000144:ATAC-STARR-seq lymphoblastoid active region 27194 [Gene]
  • LOC130000145:ATAC-STARR-seq lymphoblastoid active region 27195 [Gene]
  • LOC130000146:ATAC-STARR-seq lymphoblastoid active region 27196 [Gene]
  • LOC130000147:ATAC-STARR-seq lymphoblastoid active region 27197 [Gene]
  • LOC130000148:ATAC-STARR-seq lymphoblastoid active region 27198 [Gene]
  • LOC130000149:ATAC-STARR-seq lymphoblastoid active region 27199 [Gene]
  • LOC130000150:ATAC-STARR-seq lymphoblastoid active region 27200 [Gene]
  • LOC130000151:ATAC-STARR-seq lymphoblastoid active region 27202 [Gene]
  • LOC130000153:ATAC-STARR-seq lymphoblastoid active region 27203 [Gene]
  • LOC130000154:ATAC-STARR-seq lymphoblastoid active region 27204 [Gene]
  • LOC130000155:ATAC-STARR-seq lymphoblastoid active region 27205 [Gene]
  • LOC130000156:ATAC-STARR-seq lymphoblastoid active region 27206 [Gene]
  • LOC130000157:ATAC-STARR-seq lymphoblastoid active region 27207 [Gene]
  • LOC130000158:ATAC-STARR-seq lymphoblastoid active region 27208 [Gene]
  • LOC130000160:ATAC-STARR-seq lymphoblastoid active region 27209 [Gene]
  • LOC130000163:ATAC-STARR-seq lymphoblastoid active region 27212 [Gene]
  • LOC130000167:ATAC-STARR-seq lymphoblastoid active region 27213 [Gene]
  • LOC130000172:ATAC-STARR-seq lymphoblastoid active region 27214 [Gene]
  • LOC130000179:ATAC-STARR-seq lymphoblastoid active region 27216 [Gene]
  • LOC130000180:ATAC-STARR-seq lymphoblastoid active region 27217 [Gene]
  • LOC130000182:ATAC-STARR-seq lymphoblastoid active region 27218 [Gene]
  • LOC130000185:ATAC-STARR-seq lymphoblastoid active region 27220 [Gene]
  • LOC130000187:ATAC-STARR-seq lymphoblastoid active region 27221 [Gene]
  • LOC130000189:ATAC-STARR-seq lymphoblastoid active region 27222 [Gene]
  • LOC130000195:ATAC-STARR-seq lymphoblastoid active region 27224 [Gene]
  • LOC130000197:ATAC-STARR-seq lymphoblastoid active region 27225 [Gene]
  • LOC130000198:ATAC-STARR-seq lymphoblastoid active region 27226 [Gene]
  • LOC130000199:ATAC-STARR-seq lymphoblastoid active region 27227 [Gene]
  • LOC130000200:ATAC-STARR-seq lymphoblastoid active region 27228 [Gene]
  • LOC130000201:ATAC-STARR-seq lymphoblastoid active region 27229 [Gene]
  • LOC130000202:ATAC-STARR-seq lymphoblastoid active region 27231 [Gene]
  • LOC130000203:ATAC-STARR-seq lymphoblastoid active region 27232 [Gene]
  • LOC130000207:ATAC-STARR-seq lymphoblastoid active region 27233 [Gene]
  • LOC130000208:ATAC-STARR-seq lymphoblastoid active region 27234 [Gene]
  • LOC130000209:ATAC-STARR-seq lymphoblastoid active region 27235 [Gene]
  • LOC130000210:ATAC-STARR-seq lymphoblastoid active region 27236 [Gene]
  • LOC130000211:ATAC-STARR-seq lymphoblastoid active region 27237 [Gene]
  • LOC130000215:ATAC-STARR-seq lymphoblastoid active region 27239 [Gene]
  • LOC130000216:ATAC-STARR-seq lymphoblastoid active region 27240 [Gene]
  • LOC130000218:ATAC-STARR-seq lymphoblastoid active region 27241 [Gene]
  • LOC130000220:ATAC-STARR-seq lymphoblastoid active region 27245 [Gene]
  • LOC130000221:ATAC-STARR-seq lymphoblastoid active region 27246 [Gene]
  • LOC130000225:ATAC-STARR-seq lymphoblastoid active region 27247 [Gene]
  • LOC130000231:ATAC-STARR-seq lymphoblastoid active region 27250 [Gene]
  • LOC130000234:ATAC-STARR-seq lymphoblastoid active region 27253 [Gene]
  • LOC130000235:ATAC-STARR-seq lymphoblastoid active region 27254 [Gene]
  • LOC130000238:ATAC-STARR-seq lymphoblastoid active region 27255 [Gene]
  • LOC130000239:ATAC-STARR-seq lymphoblastoid active region 27256 [Gene]
  • LOC130000243:ATAC-STARR-seq lymphoblastoid active region 27257 [Gene]
  • LOC130000244:ATAC-STARR-seq lymphoblastoid active region 27258 [Gene]
  • LOC130000246:ATAC-STARR-seq lymphoblastoid active region 27259 [Gene]
  • LOC130000247:ATAC-STARR-seq lymphoblastoid active region 27260 [Gene]
  • LOC130000248:ATAC-STARR-seq lymphoblastoid active region 27261 [Gene]
  • LOC130000249:ATAC-STARR-seq lymphoblastoid active region 27262 [Gene]
  • LOC130000250:ATAC-STARR-seq lymphoblastoid active region 27263 [Gene]
  • LOC130000251:ATAC-STARR-seq lymphoblastoid active region 27265 [Gene]
  • LOC130000252:ATAC-STARR-seq lymphoblastoid active region 27266 [Gene]
  • LOC130000255:ATAC-STARR-seq lymphoblastoid active region 27267 [Gene]
  • LOC130000256:ATAC-STARR-seq lymphoblastoid active region 27269 [Gene]
  • LOC130000257:ATAC-STARR-seq lymphoblastoid active region 27270 [Gene]
  • LOC130000259:ATAC-STARR-seq lymphoblastoid active region 27271 [Gene]
  • LOC130000260:ATAC-STARR-seq lymphoblastoid active region 27274 [Gene]
  • LOC130000261:ATAC-STARR-seq lymphoblastoid active region 27275 [Gene]
  • LOC130000263:ATAC-STARR-seq lymphoblastoid active region 27276 [Gene]
  • LOC130000264:ATAC-STARR-seq lymphoblastoid active region 27277 [Gene]
  • LOC130000266:ATAC-STARR-seq lymphoblastoid active region 27278 [Gene]
  • LOC130000267:ATAC-STARR-seq lymphoblastoid active region 27279 [Gene]
  • LOC130000268:ATAC-STARR-seq lymphoblastoid active region 27280 [Gene]
  • LOC130000152:ATAC-STARR-seq lymphoblastoid silent region 19073 [Gene]
  • LOC130000159:ATAC-STARR-seq lymphoblastoid silent region 19074 [Gene]
  • LOC130000161:ATAC-STARR-seq lymphoblastoid silent region 19075 [Gene]
  • LOC130000162:ATAC-STARR-seq lymphoblastoid silent region 19076 [Gene]
  • LOC130000164:ATAC-STARR-seq lymphoblastoid silent region 19077 [Gene]
  • LOC130000165:ATAC-STARR-seq lymphoblastoid silent region 19078 [Gene]
  • LOC130000166:ATAC-STARR-seq lymphoblastoid silent region 19079 [Gene]
  • LOC130000168:ATAC-STARR-seq lymphoblastoid silent region 19080 [Gene]
  • LOC130000169:ATAC-STARR-seq lymphoblastoid silent region 19082 [Gene]
  • LOC130000170:ATAC-STARR-seq lymphoblastoid silent region 19083 [Gene]
  • LOC130000171:ATAC-STARR-seq lymphoblastoid silent region 19084 [Gene]
  • LOC130000173:ATAC-STARR-seq lymphoblastoid silent region 19085 [Gene]
  • LOC130000174:ATAC-STARR-seq lymphoblastoid silent region 19086 [Gene]
  • LOC130000175:ATAC-STARR-seq lymphoblastoid silent region 19087 [Gene]
  • LOC130000176:ATAC-STARR-seq lymphoblastoid silent region 19088 [Gene]
  • LOC130000177:ATAC-STARR-seq lymphoblastoid silent region 19091 [Gene]
  • LOC130000178:ATAC-STARR-seq lymphoblastoid silent region 19093 [Gene]
  • LOC130000181:ATAC-STARR-seq lymphoblastoid silent region 19094 [Gene]
  • LOC130000183:ATAC-STARR-seq lymphoblastoid silent region 19095 [Gene]
  • LOC130000184:ATAC-STARR-seq lymphoblastoid silent region 19096 [Gene]
  • LOC130000186:ATAC-STARR-seq lymphoblastoid silent region 19098 [Gene]
  • LOC130000188:ATAC-STARR-seq lymphoblastoid silent region 19099 [Gene]
  • LOC130000190:ATAC-STARR-seq lymphoblastoid silent region 19100 [Gene]
  • LOC130000191:ATAC-STARR-seq lymphoblastoid silent region 19101 [Gene]
  • LOC130000192:ATAC-STARR-seq lymphoblastoid silent region 19102 [Gene]
  • LOC130000193:ATAC-STARR-seq lymphoblastoid silent region 19103 [Gene]
  • LOC130000194:ATAC-STARR-seq lymphoblastoid silent region 19104 [Gene]
  • LOC130000196:ATAC-STARR-seq lymphoblastoid silent region 19105 [Gene]
  • LOC130000204:ATAC-STARR-seq lymphoblastoid silent region 19108 [Gene]
  • LOC130000205:ATAC-STARR-seq lymphoblastoid silent region 19109 [Gene]
  • LOC130000206:ATAC-STARR-seq lymphoblastoid silent region 19110 [Gene]
  • LOC130000212:ATAC-STARR-seq lymphoblastoid silent region 19111 [Gene]
  • LOC130000213:ATAC-STARR-seq lymphoblastoid silent region 19112 [Gene]
  • LOC130000214:ATAC-STARR-seq lymphoblastoid silent region 19113 [Gene]
  • LOC130000217:ATAC-STARR-seq lymphoblastoid silent region 19115 [Gene]
  • LOC130000219:ATAC-STARR-seq lymphoblastoid silent region 19116 [Gene]
  • LOC130000222:ATAC-STARR-seq lymphoblastoid silent region 19117 [Gene]
  • LOC130000223:ATAC-STARR-seq lymphoblastoid silent region 19119 [Gene]
  • LOC130000224:ATAC-STARR-seq lymphoblastoid silent region 19120 [Gene]
  • LOC130000226:ATAC-STARR-seq lymphoblastoid silent region 19122 [Gene]
  • LOC130000227:ATAC-STARR-seq lymphoblastoid silent region 19123 [Gene]
  • LOC130000228:ATAC-STARR-seq lymphoblastoid silent region 19125 [Gene]
  • LOC130000229:ATAC-STARR-seq lymphoblastoid silent region 19126 [Gene]
  • LOC130000230:ATAC-STARR-seq lymphoblastoid silent region 19127 [Gene]
  • LOC130000232:ATAC-STARR-seq lymphoblastoid silent region 19128 [Gene]
  • LOC130000233:ATAC-STARR-seq lymphoblastoid silent region 19129 [Gene]
  • LOC130000236:ATAC-STARR-seq lymphoblastoid silent region 19131 [Gene]
  • LOC130000237:ATAC-STARR-seq lymphoblastoid silent region 19132 [Gene]
  • LOC130000240:ATAC-STARR-seq lymphoblastoid silent region 19133 [Gene]
  • LOC130000241:ATAC-STARR-seq lymphoblastoid silent region 19134 [Gene]
  • LOC130000242:ATAC-STARR-seq lymphoblastoid silent region 19135 [Gene]
  • LOC130000245:ATAC-STARR-seq lymphoblastoid silent region 19136 [Gene]
  • LOC130000253:ATAC-STARR-seq lymphoblastoid silent region 19137 [Gene]
  • LOC130000254:ATAC-STARR-seq lymphoblastoid silent region 19138 [Gene]
  • LOC130000258:ATAC-STARR-seq lymphoblastoid silent region 19139 [Gene]
  • LOC130000262:ATAC-STARR-seq lymphoblastoid silent region 19140 [Gene]
  • LOC130000265:ATAC-STARR-seq lymphoblastoid silent region 19141 [Gene]
  • BAG4:BAG cochaperone 4 [Gene - OMIM - HGNC]
  • LOC126860343:BRD4-independent group 4 enhancer GRCh37_chr8:31165622-31166821 [Gene]
  • LOC126860344:BRD4-independent group 4 enhancer GRCh37_chr8:32490269-32491468 [Gene]
  • LOC126860346:BRD4-independent group 4 enhancer GRCh37_chr8:32617179-32618378 [Gene]
  • LOC126860353:BRD4-independent group 4 enhancer GRCh37_chr8:35717700-35718899 [Gene]
  • LOC126860354:BRD4-independent group 4 enhancer GRCh37_chr8:36347406-36348605 [Gene]
  • LOC126860360:BRD4-independent group 4 enhancer GRCh37_chr8:37638448-37639647 [Gene]
  • LOC126860362:BRD4-independent group 4 enhancer GRCh37_chr8:39038237-39039436 [Gene]
  • BRF2:BRF2 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
  • LOC126860337:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:29449049-29450248 [Gene]
  • LOC126860350:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:34939898-34941097 [Gene]
  • LOC126860352:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:35686142-35687341 [Gene]
  • LOC126860358:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:37188590-37189789 [Gene]
  • LOC116186926:CRISPRi-validated cis-regulatory element chr8.1136 [Gene]
  • LOC116186927:CRISPRi-validated cis-regulatory element chr8.1253 [Gene]
  • DCTN6-DT:DCTN6 divergent transcript [Gene - HGNC]
  • DDHD2:DDHD domain containing 2 [Gene - OMIM - HGNC]
  • ERLIN2:ER lipid raft associated 2 [Gene - OMIM - HGNC]
  • LOC111500313:HNF1 motif-containing MPRA enhancer 269 [Gene]
  • LOC111413020:HNF4 motif-containing MPRA enhancer 150 [Gene]
  • HTRA4:HtrA serine peptidase 4 [Gene - OMIM - HGNC]
  • LSM1:LSM1 homolog, mRNA degradation associated [Gene - OMIM - HGNC]
  • MAK16:MAK16 homolog [Gene - HGNC]
  • LOC126860335:MED14-independent group 3 enhancer GRCh37_chr8:29386565-29387764 [Gene]
  • LOC126860336:MED14-independent group 3 enhancer GRCh37_chr8:29412676-29413875 [Gene]
  • LOC126860338:MED14-independent group 3 enhancer GRCh37_chr8:29525986-29527185 [Gene]
  • LOC126860339:MED14-independent group 3 enhancer GRCh37_chr8:29627558-29628757 [Gene]
  • LOC126860340:MED14-independent group 3 enhancer GRCh37_chr8:29914456-29915655 [Gene]
  • LOC126860342:MED14-independent group 3 enhancer GRCh37_chr8:31029565-31030764 [Gene]
  • LOC126860345:MED14-independent group 3 enhancer GRCh37_chr8:32500376-32501575 [Gene]
  • LOC126860347:MED14-independent group 3 enhancer GRCh37_chr8:32986477-32987676 [Gene]
  • LOC126860348:MED14-independent group 3 enhancer GRCh37_chr8:33612557-33613756 [Gene]
  • LOC126860355:MED14-independent group 3 enhancer GRCh37_chr8:36780820-36782019 [Gene]
  • LOC126860357:MED14-independent group 3 enhancer GRCh37_chr8:37136489-37137688 [Gene]
  • LOC126860361:MED14-independent group 3 enhancer GRCh37_chr8:38724712-38725911 [Gene]
  • LOC126860363:MED14-independent group 3 enhancer GRCh37_chr8:39084432-39085631 [Gene]
  • LOC129389976:MPRA-validated peak6979 silencer [Gene]
  • LOC129389977:MPRA-validated peak6984 silencer [Gene]
  • LOC129389978:MPRA-validated peak6988 silencer [Gene]
  • LOC129389979:MPRA-validated peak6990 silencer [Gene]
  • LOC129389980:MPRA-validated peak6991 silencer [Gene]
  • LOC129389981:MPRA-validated peak6993 silencer [Gene]
  • NRG1-IT1:NRG1 intronic transcript 1 [Gene - HGNC]
  • NRG1-IT3:NRG1 intronic transcript 3 [Gene - HGNC]
  • LOC107133509:NUP98-NSD3 recombination region [Gene]
  • LOC132089597:Neanderthal introgressed variant-containing enhancer experimental_103076 [Gene]
  • LOC132089599:Neanderthal introgressed variant-containing enhancer experimental_103242 [Gene]
  • LOC132089600:Neanderthal introgressed variant-containing enhancer experimental_103270 [Gene]
  • LOC132089601:Neanderthal introgressed variant-containing enhancer experimental_103276 [Gene]
  • LOC126860341:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:30106253-30107452 [Gene]
  • LOC126860349:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:34714442-34715641 [Gene]
  • LOC126860351:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:35344139-35345338 [Gene]
  • LOC126860356:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:37000266-37001465 [Gene]
  • LOC126860359:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:37378682-37379881 [Gene]
  • LOC113788279:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:38385147-38386346 [Gene]
  • RAB11FIP1:RAB11 family interacting protein 1 [Gene - OMIM - HGNC]
  • RBPMS-AS1:RBPMS antisense RNA 1 [Gene - HGNC]
  • RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
  • LOC108863620:STAR 5' regulatory region [Gene]
  • LOC124153149:Sharpr-MPRA regulatory region 10821 [Gene]
  • LOC124153144:Sharpr-MPRA regulatory region 11218 [Gene]
  • LOC121331299:Sharpr-MPRA regulatory region 12355 [Gene]
  • LOC124153152:Sharpr-MPRA regulatory region 1248 [Gene]
  • LOC113788280:Sharpr-MPRA regulatory region 13542 [Gene]
  • LOC113788277:Sharpr-MPRA regulatory region 13802 [Gene]
  • LOC124153137:Sharpr-MPRA regulatory region 14750 [Gene]
  • LOC124153141:Sharpr-MPRA regulatory region 14794 [Gene]
  • LOC124153150:Sharpr-MPRA regulatory region 15086 [Gene]
  • LOC113788276:Sharpr-MPRA regulatory region 2547 [Gene]
  • LOC124153151:Sharpr-MPRA regulatory region 279 [Gene]
  • LOC124153153:Sharpr-MPRA regulatory region 3146 [Gene]
  • LOC124153136:Sharpr-MPRA regulatory region 3682 [Gene]
  • LOC124153139:Sharpr-MPRA regulatory region 3907 [Gene]
  • LOC124153145:Sharpr-MPRA regulatory region 4493 [Gene]
  • LOC124153146:Sharpr-MPRA regulatory region 4585 [Gene]
  • LOC124153148:Sharpr-MPRA regulatory region 511 [Gene]
  • LOC124153142:Sharpr-MPRA regulatory region 5217 [Gene]
  • LOC121740715:Sharpr-MPRA regulatory region 5273 [Gene]
  • LOC124153138:Sharpr-MPRA regulatory region 541 [Gene]
  • LOC113788278:Sharpr-MPRA regulatory region 54 [Gene]
  • LOC124153140:Sharpr-MPRA regulatory region 6165 [Gene]
  • LOC114004413:Sharpr-MPRA regulatory region 7305 [Gene]
  • LOC124153147:Sharpr-MPRA regulatory region 7766 [Gene]
  • LOC124153143:Sharpr-MPRA regulatory region 823 [Gene]
  • LOC124153135:Sharpr-MPRA regulatory region 8795 [Gene]
  • LOC121331298:Sharpr-MPRA regulatory region 9155 [Gene]
  • TTI2:TELO2 interacting protein 2 [Gene - OMIM - HGNC]
  • TM2D2:TM2 domain containing 2 [Gene - OMIM - HGNC]
  • UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
  • LOC110121182:VISTA enhancer hs1665 [Gene]
  • LOC110121192:VISTA enhancer hs1715 [Gene]
  • LOC110121233:VISTA enhancer hs1962 [Gene]
  • LOC110120654:VISTA enhancer hs302 [Gene]
  • LOC110120721:VISTA enhancer hs631 [Gene]
  • LOC110120781:VISTA enhancer hs834 [Gene]
  • WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
  • ADGRA2:adhesion G protein-coupled receptor A2 [Gene - OMIM - HGNC]
  • ADRB3:adrenoceptor beta 3 [Gene - OMIM - HGNC]
  • DUSP26:dual specificity phosphatase 26 [Gene - OMIM - HGNC]
  • DCTN6:dynactin subunit 6 [Gene - OMIM - HGNC]
  • EIF4EBP1:eukaryotic translation initiation factor 4E binding protein 1 [Gene - OMIM - HGNC]
  • FGFR1:fibroblast growth factor receptor 1 [Gene - OMIM - HGNC]
  • FUT10:fucosyltransferase 10 [Gene - OMIM - HGNC]
  • GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
  • GOT1L1:glutamic-oxaloacetic transaminase 1 like 1 [Gene - HGNC]
  • GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]
  • LOC108004525:heart enhancer 24 [Gene]
  • IDO1:indoleamine 2,3-dioxygenase 1 [Gene - OMIM - HGNC]
  • IDO2:indoleamine 2,3-dioxygenase 2 [Gene - OMIM - HGNC]
  • LEPROTL1:leptin receptor overlapping transcript like 1 [Gene - OMIM - HGNC]
  • LETM2:leucine zipper and EF-hand containing transmembrane protein 2 [Gene - OMIM - HGNC]
  • LINC01288:long intergenic non-protein coding RNA 1288 [Gene - HGNC]
  • LINC01605:long intergenic non-protein coding RNA 1605 [Gene - HGNC]
  • LINC02099:long intergenic non-protein coding RNA 2099 [Gene - HGNC]
  • LINC02209:long intergenic non-protein coding RNA 2209 [Gene - HGNC]
  • LINC02866:long intergenic non-protein coding RNA 2866 [Gene - HGNC]
  • LINC02948:long intergenic non-protein coding RNA 2948 [Gene - HGNC]
  • LINC03042:long intergenic non-protein coding RNA 3042 [Gene - HGNC]
  • LINC00589:long intergenic non-protein coding RNA 589 [Gene - HGNC]
  • MBOAT4:membrane bound O-acyltransferase domain containing 4 [Gene - OMIM - HGNC]
  • MIR3148:microRNA 3148 [Gene - HGNC]
  • NRG1:neuregulin 1 [Gene - OMIM - HGNC]
  • LOC108281187:nontranscribed ENCODE-defined enhancer downstream of SMARCE1P4 [Gene]
  • NSD3:nuclear receptor binding SET domain protein 3 [Gene - OMIM - HGNC]
  • PLPP5:phospholipid phosphatase 5 [Gene - OMIM - HGNC]
  • PLEKHA2:pleckstrin homology domain containing A2 [Gene - OMIM - HGNC]
  • KCNU1:potassium calcium-activated channel subfamily U member 1 [Gene - OMIM - HGNC]
  • PPP2CB:protein phosphatase 2 catalytic subunit beta [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
  • PLPBP:pyridoxal phosphate binding protein [Gene - OMIM - HGNC]
  • RNF122:ring finger protein 122 [Gene - OMIM - HGNC]
  • SMIM18:small integral membrane protein 18 [Gene - HGNC]
  • SNORD13:small nucleolar RNA, C/D box 13 [Gene - OMIM - HGNC]
  • SNORD38D:small nucleolar RNA, C/D box 38D [Gene - HGNC]
  • STAR:steroidogenic acute regulatory protein [Gene - OMIM - HGNC]
  • SARAF:store-operated calcium entry associated regulatory factor [Gene - OMIM - HGNC]
  • TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
  • TCIM:transcriptional and immune response regulator [Gene - OMIM - HGNC]
  • TACC1:transforming acidic coiled-coil containing protein 1 [Gene - OMIM - HGNC]
  • UNC5D:unc-5 netrin receptor D [Gene - OMIM - HGNC]
  • LOC100507403:uncharacterized LOC100507403 [Gene]
  • LOC101929470:uncharacterized LOC101929470 [Gene]
  • LOC101929550:uncharacterized LOC101929550 [Gene]
  • LOC101929622:uncharacterized LOC101929622 [Gene]
  • LOC102723701:uncharacterized LOC102723701 [Gene]
  • LOC102723716:uncharacterized LOC102723716 [Gene]
  • LOC105379362:uncharacterized LOC105379362 [Gene]
  • LOC105379379:uncharacterized LOC105379379 [Gene]
  • LOC105379385:uncharacterized LOC105379385 [Gene]
  • LOC128092250:uncharacterized LOC128092250 [Gene]
  • ZNF703:zinc finger protein 703 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p12-11.21
Genomic location:
Preferred name:
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1
HGVS:
  • NC_000008.11:g.(?_29362097)_(40231708_?)del
  • NC_000008.10:g.(?_29219614)_(40089227_?)del
  • NC_000008.9:g.(?_29275533)_(40208384_?)del
Links:
dbVar: nssv582794; dbVar: nsv534232
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177010ISCA site 1

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

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

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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, SCV000177010.4

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

Last Updated: May 7, 2024