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GRCh38/hg38 9q34.3(chr9:135338745-138124196) AND Kleefstra syndrome 1

Germline classification:
Pathogenic (1 submission)
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:
RCV004720539.1

Allele description [Variation Report for GRCh38/hg38 9q34.3(chr9:135338745-138124196)]

GRCh38/hg38 9q34.3(chr9:135338745-138124196)

Genes:
  • AGPAT2:1-acylglycerol-3-phosphate O-acyltransferase 2 [Gene - OMIM - HGNC]
  • LOC108254695:9q34.3 CACNA1B recombination region [Gene]
  • LOC108281115:9q34.3 EHMT1 distal recombination region [Gene]
  • LOC108281113:9q34.3 PNPLA7 recombination region [Gene]
  • LOC108254693:9q34.3 QSOX2 distal recombination region [Gene]
  • LOC108281114:9q34.3 TOR4A distal recombination region [Gene]
  • ARRDC1-AS1:ARRDC1 antisense RNA 1 [Gene - HGNC]
  • LOC130002981:ATAC-STARR-seq lymphoblastoid active region 29293 [Gene]
  • LOC130002982:ATAC-STARR-seq lymphoblastoid active region 29294 [Gene]
  • LOC130002985:ATAC-STARR-seq lymphoblastoid active region 29296 [Gene]
  • LOC130002989:ATAC-STARR-seq lymphoblastoid active region 29300 [Gene]
  • LOC130002990:ATAC-STARR-seq lymphoblastoid active region 29301 [Gene]
  • LOC130002991:ATAC-STARR-seq lymphoblastoid active region 29302 [Gene]
  • LOC130002997:ATAC-STARR-seq lymphoblastoid active region 29304 [Gene]
  • LOC130002999:ATAC-STARR-seq lymphoblastoid active region 29305 [Gene]
  • LOC130003006:ATAC-STARR-seq lymphoblastoid active region 29306 [Gene]
  • LOC130003007:ATAC-STARR-seq lymphoblastoid active region 29307 [Gene]
  • LOC130003010:ATAC-STARR-seq lymphoblastoid active region 29308 [Gene]
  • LOC130003011:ATAC-STARR-seq lymphoblastoid active region 29309 [Gene]
  • LOC130003015:ATAC-STARR-seq lymphoblastoid active region 29311 [Gene]
  • LOC130003017:ATAC-STARR-seq lymphoblastoid active region 29314 [Gene]
  • LOC130003023:ATAC-STARR-seq lymphoblastoid active region 29316 [Gene]
  • LOC130003024:ATAC-STARR-seq lymphoblastoid active region 29317 [Gene]
  • LOC130003025:ATAC-STARR-seq lymphoblastoid active region 29318 [Gene]
  • LOC130003028:ATAC-STARR-seq lymphoblastoid active region 29319 [Gene]
  • LOC130003029:ATAC-STARR-seq lymphoblastoid active region 29320 [Gene]
  • LOC130003030:ATAC-STARR-seq lymphoblastoid active region 29321 [Gene]
  • LOC130003031:ATAC-STARR-seq lymphoblastoid active region 29322 [Gene]
  • LOC130003033:ATAC-STARR-seq lymphoblastoid active region 29323 [Gene]
  • LOC130003035:ATAC-STARR-seq lymphoblastoid active region 29324 [Gene]
  • LOC130003036:ATAC-STARR-seq lymphoblastoid active region 29325 [Gene]
  • LOC130003037:ATAC-STARR-seq lymphoblastoid active region 29326 [Gene]
  • LOC130003047:ATAC-STARR-seq lymphoblastoid active region 29329 [Gene]
  • LOC130003052:ATAC-STARR-seq lymphoblastoid active region 29330 [Gene]
  • LOC130003053:ATAC-STARR-seq lymphoblastoid active region 29331 [Gene]
  • LOC130003054:ATAC-STARR-seq lymphoblastoid active region 29332 [Gene]
  • LOC130003055:ATAC-STARR-seq lymphoblastoid active region 29333 [Gene]
  • LOC130003056:ATAC-STARR-seq lymphoblastoid active region 29334 [Gene]
  • LOC130003058:ATAC-STARR-seq lymphoblastoid active region 29335 [Gene]
  • LOC130003059:ATAC-STARR-seq lymphoblastoid active region 29336 [Gene]
  • LOC130003065:ATAC-STARR-seq lymphoblastoid active region 29337 [Gene]
  • LOC130003066:ATAC-STARR-seq lymphoblastoid active region 29338 [Gene]
  • LOC130003078:ATAC-STARR-seq lymphoblastoid active region 29343 [Gene]
  • LOC130003080:ATAC-STARR-seq lymphoblastoid active region 29344 [Gene]
  • LOC130003083:ATAC-STARR-seq lymphoblastoid active region 29345 [Gene]
  • LOC130003086:ATAC-STARR-seq lymphoblastoid active region 29346 [Gene]
  • LOC130003090:ATAC-STARR-seq lymphoblastoid active region 29347 [Gene]
  • LOC130003102:ATAC-STARR-seq lymphoblastoid active region 29349 [Gene]
  • LOC130003107:ATAC-STARR-seq lymphoblastoid active region 29350 [Gene]
  • LOC130003124:ATAC-STARR-seq lymphoblastoid active region 29352 [Gene]
  • LOC130003127:ATAC-STARR-seq lymphoblastoid active region 29354 [Gene]
  • LOC130003134:ATAC-STARR-seq lymphoblastoid active region 29355 [Gene]
  • LOC130003136:ATAC-STARR-seq lymphoblastoid active region 29356 [Gene]
  • LOC130003137:ATAC-STARR-seq lymphoblastoid active region 29357 [Gene]
  • LOC130003138:ATAC-STARR-seq lymphoblastoid active region 29358 [Gene]
  • LOC130003139:ATAC-STARR-seq lymphoblastoid active region 29359 [Gene]
  • LOC130003141:ATAC-STARR-seq lymphoblastoid active region 29361 [Gene]
  • LOC130003142:ATAC-STARR-seq lymphoblastoid active region 29362 [Gene]
  • LOC130003143:ATAC-STARR-seq lymphoblastoid active region 29363 [Gene]
  • LOC130003144:ATAC-STARR-seq lymphoblastoid active region 29364 [Gene]
  • LOC130003145:ATAC-STARR-seq lymphoblastoid active region 29366 [Gene]
  • LOC130003146:ATAC-STARR-seq lymphoblastoid active region 29367 [Gene]
  • LOC130003147:ATAC-STARR-seq lymphoblastoid active region 29368 [Gene]
  • LOC130003148:ATAC-STARR-seq lymphoblastoid active region 29369 [Gene]
  • LOC130003149:ATAC-STARR-seq lymphoblastoid active region 29370 [Gene]
  • LOC130003150:ATAC-STARR-seq lymphoblastoid active region 29371 [Gene]
  • LOC130002971:ATAC-STARR-seq lymphoblastoid silent region 20483 [Gene]
  • LOC130002972:ATAC-STARR-seq lymphoblastoid silent region 20484 [Gene]
  • LOC130002973:ATAC-STARR-seq lymphoblastoid silent region 20485 [Gene]
  • LOC130002974:ATAC-STARR-seq lymphoblastoid silent region 20486 [Gene]
  • LOC130002975:ATAC-STARR-seq lymphoblastoid silent region 20487 [Gene]
  • LOC130002976:ATAC-STARR-seq lymphoblastoid silent region 20488 [Gene]
  • LOC130002977:ATAC-STARR-seq lymphoblastoid silent region 20489 [Gene]
  • LOC130002978:ATAC-STARR-seq lymphoblastoid silent region 20490 [Gene]
  • LOC130002979:ATAC-STARR-seq lymphoblastoid silent region 20491 [Gene]
  • LOC130002980:ATAC-STARR-seq lymphoblastoid silent region 20492 [Gene]
  • LOC130002983:ATAC-STARR-seq lymphoblastoid silent region 20495 [Gene]
  • LOC130002984:ATAC-STARR-seq lymphoblastoid silent region 20496 [Gene]
  • LOC130002986:ATAC-STARR-seq lymphoblastoid silent region 20497 [Gene]
  • LOC130002987:ATAC-STARR-seq lymphoblastoid silent region 20499 [Gene]
  • LOC130002988:ATAC-STARR-seq lymphoblastoid silent region 20501 [Gene]
  • LOC130002992:ATAC-STARR-seq lymphoblastoid silent region 20502 [Gene]
  • LOC130002993:ATAC-STARR-seq lymphoblastoid silent region 20503 [Gene]
  • LOC130002994:ATAC-STARR-seq lymphoblastoid silent region 20504 [Gene]
  • LOC130002995:ATAC-STARR-seq lymphoblastoid silent region 20505 [Gene]
  • LOC130002996:ATAC-STARR-seq lymphoblastoid silent region 20506 [Gene]
  • LOC130002998:ATAC-STARR-seq lymphoblastoid silent region 20507 [Gene]
  • LOC130003000:ATAC-STARR-seq lymphoblastoid silent region 20508 [Gene]
  • LOC130003001:ATAC-STARR-seq lymphoblastoid silent region 20509 [Gene]
  • LOC130003002:ATAC-STARR-seq lymphoblastoid silent region 20510 [Gene]
  • LOC130003003:ATAC-STARR-seq lymphoblastoid silent region 20511 [Gene]
  • LOC130003004:ATAC-STARR-seq lymphoblastoid silent region 20512 [Gene]
  • LOC130003005:ATAC-STARR-seq lymphoblastoid silent region 20513 [Gene]
  • LOC130003008:ATAC-STARR-seq lymphoblastoid silent region 20515 [Gene]
  • LOC130003009:ATAC-STARR-seq lymphoblastoid silent region 20516 [Gene]
  • LOC130003012:ATAC-STARR-seq lymphoblastoid silent region 20521 [Gene]
  • LOC130003013:ATAC-STARR-seq lymphoblastoid silent region 20522 [Gene]
  • LOC130003014:ATAC-STARR-seq lymphoblastoid silent region 20524 [Gene]
  • LOC130003016:ATAC-STARR-seq lymphoblastoid silent region 20525 [Gene]
  • LOC130003018:ATAC-STARR-seq lymphoblastoid silent region 20526 [Gene]
  • LOC130003019:ATAC-STARR-seq lymphoblastoid silent region 20527 [Gene]
  • LOC130003020:ATAC-STARR-seq lymphoblastoid silent region 20528 [Gene]
  • LOC130003021:ATAC-STARR-seq lymphoblastoid silent region 20529 [Gene]
  • LOC130003022:ATAC-STARR-seq lymphoblastoid silent region 20530 [Gene]
  • LOC130003026:ATAC-STARR-seq lymphoblastoid silent region 20536 [Gene]
  • LOC130003027:ATAC-STARR-seq lymphoblastoid silent region 20537 [Gene]
  • LOC130003032:ATAC-STARR-seq lymphoblastoid silent region 20538 [Gene]
  • LOC130003034:ATAC-STARR-seq lymphoblastoid silent region 20539 [Gene]
  • LOC130003038:ATAC-STARR-seq lymphoblastoid silent region 20540 [Gene]
  • LOC130003039:ATAC-STARR-seq lymphoblastoid silent region 20542 [Gene]
  • LOC130003040:ATAC-STARR-seq lymphoblastoid silent region 20546 [Gene]
  • LOC130003041:ATAC-STARR-seq lymphoblastoid silent region 20547 [Gene]
  • LOC130003042:ATAC-STARR-seq lymphoblastoid silent region 20549 [Gene]
  • LOC130003043:ATAC-STARR-seq lymphoblastoid silent region 20550 [Gene]
  • LOC130003044:ATAC-STARR-seq lymphoblastoid silent region 20551 [Gene]
  • LOC130003045:ATAC-STARR-seq lymphoblastoid silent region 20552 [Gene]
  • LOC130003046:ATAC-STARR-seq lymphoblastoid silent region 20553 [Gene]
  • LOC130003048:ATAC-STARR-seq lymphoblastoid silent region 20554 [Gene]
  • LOC130003049:ATAC-STARR-seq lymphoblastoid silent region 20555 [Gene]
  • LOC130003050:ATAC-STARR-seq lymphoblastoid silent region 20556 [Gene]
  • LOC130003051:ATAC-STARR-seq lymphoblastoid silent region 20557 [Gene]
  • LOC130003057:ATAC-STARR-seq lymphoblastoid silent region 20558 [Gene]
  • LOC130003060:ATAC-STARR-seq lymphoblastoid silent region 20561 [Gene]
  • LOC130003061:ATAC-STARR-seq lymphoblastoid silent region 20562 [Gene]
  • LOC130003062:ATAC-STARR-seq lymphoblastoid silent region 20563 [Gene]
  • LOC130003063:ATAC-STARR-seq lymphoblastoid silent region 20564 [Gene]
  • LOC130003064:ATAC-STARR-seq lymphoblastoid silent region 20565 [Gene]
  • LOC130003067:ATAC-STARR-seq lymphoblastoid silent region 20567 [Gene]
  • LOC130003068:ATAC-STARR-seq lymphoblastoid silent region 20568 [Gene]
  • LOC130003069:ATAC-STARR-seq lymphoblastoid silent region 20569 [Gene]
  • LOC130003070:ATAC-STARR-seq lymphoblastoid silent region 20571 [Gene]
  • LOC130003071:ATAC-STARR-seq lymphoblastoid silent region 20572 [Gene]
  • LOC130003072:ATAC-STARR-seq lymphoblastoid silent region 20573 [Gene]
  • LOC130003073:ATAC-STARR-seq lymphoblastoid silent region 20574 [Gene]
  • LOC130003074:ATAC-STARR-seq lymphoblastoid silent region 20575 [Gene]
  • LOC130003075:ATAC-STARR-seq lymphoblastoid silent region 20576 [Gene]
  • LOC130003076:ATAC-STARR-seq lymphoblastoid silent region 20577 [Gene]
  • LOC130003077:ATAC-STARR-seq lymphoblastoid silent region 20578 [Gene]
  • LOC130003079:ATAC-STARR-seq lymphoblastoid silent region 20579 [Gene]
  • LOC130003081:ATAC-STARR-seq lymphoblastoid silent region 20580 [Gene]
  • LOC130003082:ATAC-STARR-seq lymphoblastoid silent region 20581 [Gene]
  • LOC130003084:ATAC-STARR-seq lymphoblastoid silent region 20582 [Gene]
  • LOC130003085:ATAC-STARR-seq lymphoblastoid silent region 20583 [Gene]
  • LOC130003087:ATAC-STARR-seq lymphoblastoid silent region 20585 [Gene]
  • LOC130003088:ATAC-STARR-seq lymphoblastoid silent region 20586 [Gene]
  • LOC130003089:ATAC-STARR-seq lymphoblastoid silent region 20587 [Gene]
  • LOC130003091:ATAC-STARR-seq lymphoblastoid silent region 20588 [Gene]
  • LOC130003092:ATAC-STARR-seq lymphoblastoid silent region 20589 [Gene]
  • LOC130003093:ATAC-STARR-seq lymphoblastoid silent region 20590 [Gene]
  • LOC130003094:ATAC-STARR-seq lymphoblastoid silent region 20591 [Gene]
  • LOC130003095:ATAC-STARR-seq lymphoblastoid silent region 20592 [Gene]
  • LOC130003096:ATAC-STARR-seq lymphoblastoid silent region 20593 [Gene]
  • LOC130003097:ATAC-STARR-seq lymphoblastoid silent region 20594 [Gene]
  • LOC130003098:ATAC-STARR-seq lymphoblastoid silent region 20596 [Gene]
  • LOC130003099:ATAC-STARR-seq lymphoblastoid silent region 20597 [Gene]
  • LOC130003100:ATAC-STARR-seq lymphoblastoid silent region 20598 [Gene]
  • LOC130003101:ATAC-STARR-seq lymphoblastoid silent region 20599 [Gene]
  • LOC130003103:ATAC-STARR-seq lymphoblastoid silent region 20604 [Gene]
  • LOC130003104:ATAC-STARR-seq lymphoblastoid silent region 20605 [Gene]
  • LOC130003105:ATAC-STARR-seq lymphoblastoid silent region 20606 [Gene]
  • LOC130003106:ATAC-STARR-seq lymphoblastoid silent region 20607 [Gene]
  • LOC130003108:ATAC-STARR-seq lymphoblastoid silent region 20608 [Gene]
  • LOC130003109:ATAC-STARR-seq lymphoblastoid silent region 20609 [Gene]
  • LOC130003110:ATAC-STARR-seq lymphoblastoid silent region 20610 [Gene]
  • LOC130003111:ATAC-STARR-seq lymphoblastoid silent region 20611 [Gene]
  • LOC130003112:ATAC-STARR-seq lymphoblastoid silent region 20613 [Gene]
  • LOC130003113:ATAC-STARR-seq lymphoblastoid silent region 20614 [Gene]
  • LOC130003114:ATAC-STARR-seq lymphoblastoid silent region 20615 [Gene]
  • LOC130003115:ATAC-STARR-seq lymphoblastoid silent region 20616 [Gene]
  • LOC130003116:ATAC-STARR-seq lymphoblastoid silent region 20619 [Gene]
  • LOC130003117:ATAC-STARR-seq lymphoblastoid silent region 20620 [Gene]
  • LOC130003118:ATAC-STARR-seq lymphoblastoid silent region 20621 [Gene]
  • LOC130003119:ATAC-STARR-seq lymphoblastoid silent region 20623 [Gene]
  • LOC130003120:ATAC-STARR-seq lymphoblastoid silent region 20624 [Gene]
  • LOC130003121:ATAC-STARR-seq lymphoblastoid silent region 20625 [Gene]
  • LOC130003122:ATAC-STARR-seq lymphoblastoid silent region 20626 [Gene]
  • LOC130003123:ATAC-STARR-seq lymphoblastoid silent region 20627 [Gene]
  • LOC130003125:ATAC-STARR-seq lymphoblastoid silent region 20628 [Gene]
  • LOC130003126:ATAC-STARR-seq lymphoblastoid silent region 20629 [Gene]
  • LOC130003128:ATAC-STARR-seq lymphoblastoid silent region 20630 [Gene]
  • LOC130003129:ATAC-STARR-seq lymphoblastoid silent region 20631 [Gene]
  • LOC130003130:ATAC-STARR-seq lymphoblastoid silent region 20632 [Gene]
  • LOC130003131:ATAC-STARR-seq lymphoblastoid silent region 20633 [Gene]
  • LOC130003132:ATAC-STARR-seq lymphoblastoid silent region 20634 [Gene]
  • LOC130003133:ATAC-STARR-seq lymphoblastoid silent region 20635 [Gene]
  • LOC130003135:ATAC-STARR-seq lymphoblastoid silent region 20636 [Gene]
  • LOC130003140:ATAC-STARR-seq lymphoblastoid silent region 20637 [Gene]
  • ABCA2:ATP binding cassette subfamily A member 2 [Gene - OMIM - HGNC]
  • LOC126860794:BRD4-independent group 4 enhancer GRCh37_chr9:139392592-139393791 [Gene]
  • CACNA1B-AS1:CACNA1B antisense RNA 1 [Gene - HGNC]
  • CCDC183-AS1:CCDC183 antisense RNA 1 [Gene - HGNC]
  • LOC126860791:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139291906-139293105 [Gene]
  • LOC126860792:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139310410-139311609 [Gene]
  • LOC126860796:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139904888-139906087 [Gene]
  • LOC126860799:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140657628-140658827 [Gene]
  • LOC126860801:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:140884423-140885622 [Gene]
  • LOC116216103:CRISPRi-validated cis-regulatory element chr9.4291 [Gene]
  • LOC116216104:CRISPRi-validated cis-regulatory element chr9.4332 [Gene]
  • DNLZ:DNL-type zinc finger [Gene - OMIM - HGNC]
  • EGFL7:EGF like domain multiple 7 [Gene - OMIM - HGNC]
  • FBXW5:F-box and WD repeat domain containing 5 [Gene - OMIM - HGNC]
  • GPSM1:G protein signaling modulator 1 [Gene - OMIM - HGNC]
  • LHX3:LIM homeobox 3 [Gene - OMIM - HGNC]
  • MAMDC4:MAM domain containing 4 [Gene - OMIM - HGNC]
  • MAN1B1-DT:MAN1B1 divergent transcript [Gene - HGNC]
  • LOC126860789:MED14-independent group 3 enhancer GRCh37_chr9:138838500-138839699 [Gene]
  • LOC126860790:MED14-independent group 3 enhancer GRCh37_chr9:139119971-139121170 [Gene]
  • LOC126860793:MED14-independent group 3 enhancer GRCh37_chr9:139342099-139343298 [Gene]
  • LOC126860795:MED14-independent group 3 enhancer GRCh37_chr9:139444236-139445435 [Gene]
  • LOC126860797:MED14-independent group 3 enhancer GRCh37_chr9:140343721-140344920 [Gene]
  • LOC126860798:MED14-independent group 3 enhancer GRCh37_chr9:140377541-140378740 [Gene]
  • LOC126860800:MED14-independent group 3 enhancer GRCh37_chr9:140767993-140769192 [Gene]
  • LOC129390118:MPRA-validated peak7347 silencer [Gene]
  • NACC2:NACC family member 2 [Gene - OMIM - HGNC]
  • NDOR1:NADPH dependent diflavin oxidoreductase 1 [Gene - OMIM - HGNC]
  • NOXA1:NADPH oxidase activator 1 [Gene - OMIM - HGNC]
  • NSMF:NMDA receptor synaptonuclear signaling and neuronal migration factor [Gene - OMIM - HGNC]
  • NRARP:NOTCH regulated ankyrin repeat protein [Gene - OMIM - HGNC]
  • NALT1:NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1 [Gene - HGNC]
  • LOC126860788:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:138796685-138797884 [Gene]
  • PAXX:PAXX non-homologous end joining factor [Gene - OMIM - HGNC]
  • PPP1R26-AS1:PPP1R26 antisense RNA 1 [Gene - HGNC]
  • RABL6:RAB, member RAS oncogene family like 6 [Gene - OMIM - HGNC]
  • SEC16A:SEC16 homolog A, endoplasmic reticulum export factor [Gene - OMIM - HGNC]
  • SSNA1:SS nuclear autoantigen 1 [Gene - OMIM - HGNC]
  • STPG3-AS1:STPG3 antisense RNA 1 [Gene - HGNC]
  • LOC124375243:Sharpr-MPRA regulatory region 1004 [Gene]
  • LOC124375253:Sharpr-MPRA regulatory region 12030 [Gene]
  • LOC124375247:Sharpr-MPRA regulatory region 12102 [Gene]
  • LOC121366035:Sharpr-MPRA regulatory region 13741 [Gene]
  • LOC113839538:Sharpr-MPRA regulatory region 14740 [Gene]
  • LOC124375249:Sharpr-MPRA regulatory region 3127 [Gene]
  • LOC121811721:Sharpr-MPRA regulatory region 3186 [Gene]
  • LOC113839540:Sharpr-MPRA regulatory region 3996 [Gene]
  • LOC113839542:Sharpr-MPRA regulatory region 4489 [Gene]
  • LOC124375252:Sharpr-MPRA regulatory region 4638 [Gene]
  • LOC124375251:Sharpr-MPRA regulatory region 5016 [Gene]
  • LOC124375248:Sharpr-MPRA regulatory region 5679 [Gene]
  • LOC124375246:Sharpr-MPRA regulatory region 5701 [Gene]
  • LOC121366036:Sharpr-MPRA regulatory region 6441 [Gene]
  • LOC124375244:Sharpr-MPRA regulatory region 6589 [Gene]
  • LOC121811720:Sharpr-MPRA regulatory region 6734 [Gene]
  • LOC124375242:Sharpr-MPRA regulatory region 7357 [Gene]
  • LOC113839541:Sharpr-MPRA regulatory region 7361 [Gene]
  • LOC124375250:Sharpr-MPRA regulatory region 8071 [Gene]
  • LOC124375254:Sharpr-MPRA regulatory region 8502 [Gene]
  • LOC113839539:Sharpr-MPRA regulatory region 8889 [Gene]
  • LOC124375245:Sharpr-MPRA regulatory region 9516 [Gene]
  • TRAF2:TNF receptor associated factor 2 [Gene - OMIM - HGNC]
  • UBAC1:UBA domain containing 1 [Gene - OMIM - HGNC]
  • UAP1L1:UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 [Gene - HGNC]
  • LOC110121282:VISTA enhancer hs2207 [Gene]
  • ANAPC2:anaphase promoting complex subunit 2 [Gene - OMIM - HGNC]
  • AJM1:apical junction component 1 homolog [Gene - HGNC]
  • ARRDC1:arrestin domain containing 1 [Gene - OMIM - HGNC]
  • CACNA1B:calcium voltage-gated channel subunit alpha1 B [Gene - OMIM - HGNC]
  • CAMSAP1:calmodulin regulated spectrin associated protein 1 [Gene - OMIM - HGNC]
  • CARD9:caspase recruitment domain family member 9 [Gene - OMIM - HGNC]
  • CLIC3:chloride intracellular channel 3 [Gene - OMIM - HGNC]
  • C9orf163:chromosome 9 putative open reading frame 163 [Gene - HGNC]
  • CIMIP2A:ciliary microtubule inner protein 2A [Gene - HGNC]
  • CCDC183:coiled-coil domain containing 183 [Gene - OMIM - HGNC]
  • CCDC187:coiled-coil domain containing 187 [Gene - HGNC]
  • C8G:complement C8 gamma chain [Gene - OMIM - HGNC]
  • CYSRT1:cysteine rich tail 1 [Gene - HGNC]
  • DPP7:dipeptidyl peptidase 7 [Gene - OMIM - HGNC]
  • DPH7:diphthamide biosynthesis 7 [Gene - OMIM - HGNC]
  • DIPK1B:divergent protein kinase domain 1B [Gene - OMIM - HGNC]
  • ENTPD2:ectonucleoside triphosphate diphosphohydrolase 2 [Gene - OMIM - HGNC]
  • ENTPD8:ectonucleoside triphosphate diphosphohydrolase 8 [Gene - OMIM - HGNC]
  • ENTR1:endosome associated trafficking regulator 1 [Gene - OMIM - HGNC]
  • EDF1:endothelial differentiation related factor 1 [Gene - OMIM - HGNC]
  • EHMT1:euchromatic histone lysine methyltransferase 1 [Gene - OMIM - HGNC]
  • EXD3:exonuclease 3'-5' domain containing 3 [Gene - OMIM - HGNC]
  • FUT7:fucosyltransferase 7 [Gene - OMIM - HGNC]
  • GRIN1:glutamate ionotropic receptor NMDA type subunit 1 [Gene - OMIM - HGNC]
  • GLT6D1:glycosyltransferase 6 domain containing 1 [Gene - OMIM - HGNC]
  • INPP5E:inositol polyphosphate-5-phosphatase E [Gene - OMIM - HGNC]
  • LRRC26:leucine rich repeat containing 26 [Gene - OMIM - HGNC]
  • LOC102723971:lipocalin 1-like [Gene]
  • LCN10:lipocalin 10 [Gene - OMIM - HGNC]
  • LCN12:lipocalin 12 [Gene - OMIM - HGNC]
  • LCN15:lipocalin 15 [Gene - HGNC]
  • LCN1:lipocalin 1 [Gene - OMIM - HGNC]
  • LCN6:lipocalin 6 [Gene - OMIM - HGNC]
  • LCN8:lipocalin 8 [Gene - OMIM - HGNC]
  • LCN9:lipocalin 9 [Gene - OMIM - HGNC]
  • LCNL1:lipocalin like 1 [Gene - HGNC]
  • LNCEGFL7OS:lncRNA EGFL7 opposite strand [Gene - HGNC]
  • LINC01451:long intergenic non-protein coding RNA 1451 [Gene - HGNC]
  • LINC01502:long intergenic non-protein coding RNA 1502 [Gene - HGNC]
  • LINC02692:long intergenic non-protein coding RNA 2692 [Gene - HGNC]
  • LINC02846:long intergenic non-protein coding RNA 2846 [Gene - HGNC]
  • LINC02907:long intergenic non-protein coding RNA 2907 [Gene - HGNC]
  • LINC02908:long intergenic non-protein coding RNA 2908 [Gene - HGNC]
  • MAN1B1:mannosidase alpha class 1B member 1 [Gene - OMIM - HGNC]
  • MIR126:microRNA 126 [Gene - OMIM - HGNC]
  • MIR3621:microRNA 3621 [Gene - HGNC]
  • MIR4292:microRNA 4292 [Gene - HGNC]
  • MIR4479:microRNA 4479 [Gene - HGNC]
  • MIR4673:microRNA 4673 [Gene - HGNC]
  • MIR4674:microRNA 4674 [Gene - HGNC]
  • MIR602:microRNA 602 [Gene - HGNC]
  • MIR6722:microRNA 6722 [Gene - HGNC]
  • MIR7114:microRNA 7114 [Gene - HGNC]
  • MRPL41:mitochondrial ribosomal protein L41 [Gene - OMIM - HGNC]
  • MRPS2:mitochondrial ribosomal protein S2 [Gene - OMIM - HGNC]
  • NELFB:negative elongation factor complex member B [Gene - OMIM - HGNC]
  • NPDC1:neural proliferation, differentiation and control 1 [Gene - OMIM - HGNC]
  • NOTCH1:notch receptor 1 [Gene - OMIM - HGNC]
  • OBP2A:odorant binding protein 2A [Gene - OMIM - HGNC]
  • PNPLA7:patatin like phospholipase domain containing 7 [Gene - OMIM - HGNC]
  • PMPCA:peptidase, mitochondrial processing subunit alpha [Gene - OMIM - HGNC]
  • PHPT1:phosphohistidine phosphatase 1 [Gene - OMIM - HGNC]
  • PIERCE1:piercer of microtubule wall 1 [Gene - OMIM - HGNC]
  • KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
  • PAEP:progestagen associated endometrial protein [Gene - OMIM - HGNC]
  • PTGDS:prostaglandin D2 synthase [Gene - OMIM - HGNC]
  • PPP1R26:protein phosphatase 1 regulatory subunit 26 [Gene - OMIM - HGNC]
  • QSOX2:quiescin sulfhydryl oxidase 2 [Gene - OMIM - HGNC]
  • RNF208:ring finger protein 208 [Gene - OMIM - HGNC]
  • RNF224:ring finger protein 224 [Gene - HGNC]
  • LOC122513141:ring finger protein-like [Gene]
  • SNAPC4:small nuclear RNA activating complex polypeptide 4 [Gene - OMIM - HGNC]
  • SNHG7:small nucleolar RNA host gene 7 [Gene - HGNC]
  • SNORA17A:small nucleolar RNA, H/ACA box 17A [Gene - HGNC]
  • SNORA17B:small nucleolar RNA, H/ACA box 17B [Gene - HGNC]
  • SLC34A3:solute carrier family 34 member 3 [Gene - OMIM - HGNC]
  • STPG3:sperm-tail PG-rich repeat containing 3 [Gene - HGNC]
  • SOHLH1:spermatogenesis and oogenesis specific basic helix-loop-helix 1 [Gene - OMIM - HGNC]
  • SAPCD2:suppressor APC domain containing 2 [Gene - OMIM - HGNC]
  • TPRN:taperin [Gene - OMIM - HGNC]
  • TOR4A:torsin family 4 member A [Gene - HGNC]
  • TMEM141:transmembrane protein 141 [Gene - HGNC]
  • TMEM203:transmembrane protein 203 [Gene - OMIM - HGNC]
  • TMEM210:transmembrane protein 210 [Gene - HGNC]
  • TMEM250:transmembrane protein 250 [Gene - HGNC]
  • TUBB4B:tubulin beta 4B class IVb [Gene - OMIM - HGNC]
  • LOC100128593:uncharacterized LOC100128593 [Gene]
  • LOC100133077:uncharacterized LOC100133077 [Gene]
  • LOC101928525:uncharacterized LOC101928525 [Gene]
  • LOC101928786:uncharacterized LOC101928786 [Gene]
  • LOC107987142:uncharacterized LOC107987142 [Gene]
  • DKFZP434A062:uncharacterized LOC26102 [Gene]
  • LOC651337:uncharacterized LOC651337 [Gene]
  • ZMYND19:zinc finger MYND-type containing 19 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q34.3
Genomic location:
Chr9: 135338745 - 138124196 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 9q34.3(chr9:135338745-138124196)

Condition(s)

Name:
Kleefstra syndrome 1
Identifiers:
MONDO: MONDO:0027407; MedGen: C0795833; Orphanet: 261494; OMIM: 610253

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005049639Laboratory of Genetics, Children's Clinical University Hospital Latvia
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Pathogenicgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Rots D, Bouman A, Yamada A, Levy M, Dingemans AJM, de Vries BBA, Ruiterkamp-Versteeg M, de Leeuw N, Ockeloen CW, Pfundt R, de Boer E, Kummeling J, van Bon B, van Bokhoven H, Kasri NN, Venselaar H, Alders M, Kerkhof J, McConkey H, Kuechler A, Elffers B, van Beeck Calkoen R, et al.

Am J Hum Genet. 2024 Aug 8;111(8):1605-1625. doi: 10.1016/j.ajhg.2024.06.008. Epub 2024 Jul 15.

PubMed [citation]
PMID:
39013458
PMCID:
PMC11339614

Details of each submission

From Laboratory of Genetics, Children's Clinical University Hospital Latvia, SCV005049639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024