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GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 18, 2013
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:
RCV000142053.5

Allele description [Variation Report for GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1]

GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1

Genes:
  • AKAP17A:A-kinase anchoring protein 17A [Gene - OMIM - OMIM - HGNC]
  • ACE2-DT:ACE2 divergent transcript [Gene - HGNC]
  • LOC117134593:ACE2 promoter region [Gene]
  • ARSD-AS1:ARSD antisense RNA 1 [Gene - HGNC]
  • ASMTL-AS1:ASMTL antisense RNA 1 [Gene - HGNC]
  • LOC130067892:ATAC-STARR-seq lymphoblastoid active region 29373 [Gene]
  • LOC130067893:ATAC-STARR-seq lymphoblastoid active region 29374 [Gene]
  • LOC130067894:ATAC-STARR-seq lymphoblastoid active region 29375 [Gene]
  • LOC130067895:ATAC-STARR-seq lymphoblastoid active region 29376 [Gene]
  • LOC130067901:ATAC-STARR-seq lymphoblastoid active region 29377 [Gene]
  • LOC130067906:ATAC-STARR-seq lymphoblastoid active region 29379 [Gene]
  • LOC130067907:ATAC-STARR-seq lymphoblastoid active region 29380 [Gene]
  • LOC130067908:ATAC-STARR-seq lymphoblastoid active region 29381 [Gene]
  • LOC130067909:ATAC-STARR-seq lymphoblastoid active region 29382 [Gene]
  • LOC130067910:ATAC-STARR-seq lymphoblastoid active region 29383 [Gene]
  • LOC130067911:ATAC-STARR-seq lymphoblastoid active region 29384 [Gene]
  • LOC130067912:ATAC-STARR-seq lymphoblastoid active region 29385 [Gene]
  • LOC130067913:ATAC-STARR-seq lymphoblastoid active region 29386 [Gene]
  • LOC130067914:ATAC-STARR-seq lymphoblastoid active region 29387 [Gene]
  • LOC130067916:ATAC-STARR-seq lymphoblastoid active region 29389 [Gene]
  • LOC130067917:ATAC-STARR-seq lymphoblastoid active region 29390 [Gene]
  • LOC130067918:ATAC-STARR-seq lymphoblastoid active region 29391 [Gene]
  • LOC130067919:ATAC-STARR-seq lymphoblastoid active region 29393 [Gene]
  • LOC130067920:ATAC-STARR-seq lymphoblastoid active region 29394 [Gene]
  • LOC130067921:ATAC-STARR-seq lymphoblastoid active region 29395 [Gene]
  • LOC130067922:ATAC-STARR-seq lymphoblastoid active region 29396 [Gene]
  • LOC130067923:ATAC-STARR-seq lymphoblastoid active region 29397 [Gene]
  • LOC130067924:ATAC-STARR-seq lymphoblastoid active region 29398 [Gene]
  • LOC130067928:ATAC-STARR-seq lymphoblastoid active region 29402 [Gene]
  • LOC130067929:ATAC-STARR-seq lymphoblastoid active region 29403 [Gene]
  • LOC130067930:ATAC-STARR-seq lymphoblastoid active region 29404 [Gene]
  • LOC130067931:ATAC-STARR-seq lymphoblastoid active region 29405 [Gene]
  • LOC130067932:ATAC-STARR-seq lymphoblastoid active region 29406 [Gene]
  • LOC130067934:ATAC-STARR-seq lymphoblastoid active region 29407 [Gene]
  • LOC130067937:ATAC-STARR-seq lymphoblastoid active region 29409 [Gene]
  • LOC130067938:ATAC-STARR-seq lymphoblastoid active region 29410 [Gene]
  • LOC130067943:ATAC-STARR-seq lymphoblastoid active region 29411 [Gene]
  • LOC130067945:ATAC-STARR-seq lymphoblastoid active region 29412 [Gene]
  • LOC130067946:ATAC-STARR-seq lymphoblastoid active region 29413 [Gene]
  • LOC130067947:ATAC-STARR-seq lymphoblastoid active region 29414 [Gene]
  • LOC130067948:ATAC-STARR-seq lymphoblastoid active region 29420 [Gene]
  • LOC130067949:ATAC-STARR-seq lymphoblastoid active region 29421 [Gene]
  • LOC130067950:ATAC-STARR-seq lymphoblastoid active region 29422 [Gene]
  • LOC130067951:ATAC-STARR-seq lymphoblastoid active region 29423 [Gene]
  • LOC130067952:ATAC-STARR-seq lymphoblastoid active region 29424 [Gene]
  • LOC130067954:ATAC-STARR-seq lymphoblastoid active region 29426 [Gene]
  • LOC130067955:ATAC-STARR-seq lymphoblastoid active region 29427 [Gene]
  • LOC130067956:ATAC-STARR-seq lymphoblastoid active region 29428 [Gene]
  • LOC130067957:ATAC-STARR-seq lymphoblastoid active region 29429 [Gene]
  • LOC130067958:ATAC-STARR-seq lymphoblastoid active region 29430 [Gene]
  • LOC130067960:ATAC-STARR-seq lymphoblastoid active region 29431 [Gene]
  • LOC130067961:ATAC-STARR-seq lymphoblastoid active region 29432 [Gene]
  • LOC130067962:ATAC-STARR-seq lymphoblastoid active region 29433 [Gene]
  • LOC130067963:ATAC-STARR-seq lymphoblastoid active region 29434 [Gene]
  • LOC130067964:ATAC-STARR-seq lymphoblastoid active region 29435 [Gene]
  • LOC130067965:ATAC-STARR-seq lymphoblastoid active region 29436 [Gene]
  • LOC130067966:ATAC-STARR-seq lymphoblastoid active region 29437 [Gene]
  • LOC130067968:ATAC-STARR-seq lymphoblastoid active region 29438 [Gene]
  • LOC130067969:ATAC-STARR-seq lymphoblastoid active region 29439 [Gene]
  • LOC130067970:ATAC-STARR-seq lymphoblastoid active region 29440 [Gene]
  • LOC130067971:ATAC-STARR-seq lymphoblastoid active region 29442 [Gene]
  • LOC130067972:ATAC-STARR-seq lymphoblastoid active region 29444 [Gene]
  • LOC130067976:ATAC-STARR-seq lymphoblastoid active region 29445 [Gene]
  • LOC130067978:ATAC-STARR-seq lymphoblastoid active region 29446 [Gene]
  • LOC130067979:ATAC-STARR-seq lymphoblastoid active region 29447 [Gene]
  • LOC130067982:ATAC-STARR-seq lymphoblastoid active region 29449 [Gene]
  • LOC130067983:ATAC-STARR-seq lymphoblastoid active region 29450 [Gene]
  • LOC130067984:ATAC-STARR-seq lymphoblastoid active region 29451 [Gene]
  • LOC130067986:ATAC-STARR-seq lymphoblastoid active region 29452 [Gene]
  • LOC130067988:ATAC-STARR-seq lymphoblastoid active region 29453 [Gene]
  • LOC130067991:ATAC-STARR-seq lymphoblastoid active region 29454 [Gene]
  • LOC130067992:ATAC-STARR-seq lymphoblastoid active region 29455 [Gene]
  • LOC130067994:ATAC-STARR-seq lymphoblastoid active region 29456 [Gene]
  • LOC130067997:ATAC-STARR-seq lymphoblastoid active region 29457 [Gene]
  • LOC130067890:ATAC-STARR-seq lymphoblastoid silent region 20638 [Gene]
  • LOC130067891:ATAC-STARR-seq lymphoblastoid silent region 20639 [Gene]
  • LOC130067896:ATAC-STARR-seq lymphoblastoid silent region 20640 [Gene]
  • LOC130067897:ATAC-STARR-seq lymphoblastoid silent region 20641 [Gene]
  • LOC130067898:ATAC-STARR-seq lymphoblastoid silent region 20642 [Gene]
  • LOC130067899:ATAC-STARR-seq lymphoblastoid silent region 20643 [Gene]
  • LOC130067900:ATAC-STARR-seq lymphoblastoid silent region 20644 [Gene]
  • LOC130067902:ATAC-STARR-seq lymphoblastoid silent region 20645 [Gene]
  • LOC130067903:ATAC-STARR-seq lymphoblastoid silent region 20646 [Gene]
  • LOC130067904:ATAC-STARR-seq lymphoblastoid silent region 20647 [Gene]
  • LOC130067905:ATAC-STARR-seq lymphoblastoid silent region 20648 [Gene]
  • LOC130067915:ATAC-STARR-seq lymphoblastoid silent region 20649 [Gene]
  • LOC130067925:ATAC-STARR-seq lymphoblastoid silent region 20650 [Gene]
  • LOC130067926:ATAC-STARR-seq lymphoblastoid silent region 20651 [Gene]
  • LOC130067927:ATAC-STARR-seq lymphoblastoid silent region 20652 [Gene]
  • LOC130067933:ATAC-STARR-seq lymphoblastoid silent region 20655 [Gene]
  • LOC130067935:ATAC-STARR-seq lymphoblastoid silent region 20656 [Gene]
  • LOC130067936:ATAC-STARR-seq lymphoblastoid silent region 20657 [Gene]
  • LOC130067939:ATAC-STARR-seq lymphoblastoid silent region 20658 [Gene]
  • LOC130067940:ATAC-STARR-seq lymphoblastoid silent region 20659 [Gene]
  • LOC130067941:ATAC-STARR-seq lymphoblastoid silent region 20660 [Gene]
  • LOC130067942:ATAC-STARR-seq lymphoblastoid silent region 20661 [Gene]
  • LOC130067944:ATAC-STARR-seq lymphoblastoid silent region 20663 [Gene]
  • LOC130067953:ATAC-STARR-seq lymphoblastoid silent region 20664 [Gene]
  • LOC130067959:ATAC-STARR-seq lymphoblastoid silent region 20665 [Gene]
  • LOC130067967:ATAC-STARR-seq lymphoblastoid silent region 20666 [Gene]
  • LOC130067973:ATAC-STARR-seq lymphoblastoid silent region 20667 [Gene]
  • LOC130067974:ATAC-STARR-seq lymphoblastoid silent region 20668 [Gene]
  • LOC130067975:ATAC-STARR-seq lymphoblastoid silent region 20669 [Gene]
  • LOC130067977:ATAC-STARR-seq lymphoblastoid silent region 20671 [Gene]
  • LOC130067980:ATAC-STARR-seq lymphoblastoid silent region 20672 [Gene]
  • LOC130067981:ATAC-STARR-seq lymphoblastoid silent region 20673 [Gene]
  • LOC130067985:ATAC-STARR-seq lymphoblastoid silent region 20674 [Gene]
  • LOC130067987:ATAC-STARR-seq lymphoblastoid silent region 20677 [Gene]
  • LOC130067989:ATAC-STARR-seq lymphoblastoid silent region 20678 [Gene]
  • LOC130067990:ATAC-STARR-seq lymphoblastoid silent region 20679 [Gene]
  • LOC130067993:ATAC-STARR-seq lymphoblastoid silent region 20680 [Gene]
  • LOC130067995:ATAC-STARR-seq lymphoblastoid silent region 20681 [Gene]
  • LOC130067996:ATAC-STARR-seq lymphoblastoid silent region 20682 [Gene]
  • BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • LOC126863207:BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178 [Gene]
  • LOC126863209:BRD4-independent group 4 enhancer GRCh37_chrX:12597924-12599123 [Gene]
  • LOC126863213:BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 [Gene]
  • LOC113875013:BRD4-independent group 4 enhancer GRCh37_chrX:14691306-14692505 [Gene]
  • LOC126863214:BRD4-independent group 4 enhancer GRCh37_chrX:15617708-15618907 [Gene]
  • LOC126863190:BRD4-independent group 4 enhancer GRCh37_chrX:3445471-3446670 [Gene]
  • LOC126863191:BRD4-independent group 4 enhancer GRCh37_chrX:3650386-3651585 [Gene]
  • LOC126863194:BRD4-independent group 4 enhancer GRCh37_chrX:4872887-4874086 [Gene]
  • LOC126863196:BRD4-independent group 4 enhancer GRCh37_chrX:5224281-5225480 [Gene]
  • LOC126863198:BRD4-independent group 4 enhancer GRCh37_chrX:7889540-7890739 [Gene]
  • LOC126863204:BRD4-independent group 4 enhancer GRCh37_chrX:9374111-9375310 [Gene]
  • LOC126863206:BRD4-independent group 4 enhancer GRCh37_chrX:9907403-9908602 [Gene]
  • CA5BP1-CA5B:CA5BP1-CA5B readthrough [Gene]
  • CD99:CD99 molecule (Xg blood group) [Gene - OMIM - OMIM - HGNC]
  • LOC126863212:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 [Gene]
  • LOC126863216:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:16203427-16204626 [Gene]
  • LOC126863189:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:2722445-2723644 [Gene]
  • LOC126863192:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:4463784-4464983 [Gene]
  • LOC126863201:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:8725279-8726478 [Gene]
  • LOC126863202:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:9098527-9099726 [Gene]
  • CNE-2:CNE-2 enhancer upstream of SHOX [Gene]
  • CNE-3:CNE-3 enhancer upstream of SHOX [Gene]
  • CNE-5:CNE-5 enhancer upstream of SHOX [Gene]
  • CNE4:CNE4 enhancer downstream of SHOX [Gene]
  • CNE5:CNE5 enhancer downstream of SHOX [Gene]
  • CNE6:CNE6 enhancer downstream of SHOX [Gene]
  • CNE7:CNE7 enhancer downstream of SHOX [Gene]
  • CNE8:CNE8 enhancer downstream of SHOX [Gene]
  • CNE9:CNE9 enhancer downstream of SHOX [Gene]
  • LOC116309138:CRISPRi-validated cis-regulatory element chrX.229 [Gene]
  • LOC116309139:CRISPRi-validated cis-regulatory element chrX.231 [Gene]
  • LOC116309145:CRISPRi-validated cis-regulatory element chrX.232 [Gene]
  • LOC116309146:CRISPRi-validated cis-regulatory element chrX.233 [Gene]
  • LOC116309142:CRISPRi-validated cis-regulatory element chrX.234 [Gene]
  • LOC116309143:CRISPRi-validated cis-regulatory element chrX.239 [Gene]
  • LOC116309144:CRISPRi-validated cis-regulatory element chrX.240 [Gene]
  • LOC116309147:CRISPRi-validated cis-regulatory element chrX.345 [Gene]
  • CTPS2:CTP synthase 2 [Gene - OMIM - HGNC]
  • EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
  • FANCB:FA complementation group B [Gene - OMIM - HGNC]
  • FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
  • FRMPD4-AS1:FRMPD4 antisense RNA 1 [Gene - HGNC]
  • GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
  • GTPBP6:GTP binding protein 6 (putative) [Gene - OMIM - HGNC]
  • HCCS-DT:HCCS divergent transcript [Gene - HGNC]
  • MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
  • MAGEB17-AS1:MAGEB17 antisense RNA 1 [Gene - HGNC]
  • LOC126863210:MED14-independent group 3 enhancer GRCh37_chrX:12837926-12839125 [Gene]
  • LOC126863193:MED14-independent group 3 enhancer GRCh37_chrX:4628486-4629685 [Gene]
  • LOC126863197:MED14-independent group 3 enhancer GRCh37_chrX:7290864-7292063 [Gene]
  • LOC126863203:MED14-independent group 3 enhancer GRCh37_chrX:9320474-9321673 [Gene]
  • LOC111242786:MID1 promoter D [Gene]
  • LOC129391292:MPRA-validated peak7351 silencer [Gene]
  • LOC129391293:MPRA-validated peak7356 silencer [Gene]
  • LOC129391294:MPRA-validated peak7357 silencer [Gene]
  • MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
  • LOC111365193:NFE2L2 motif-containing MPRA enhancer 58 [Gene]
  • OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
  • P2RY8:P2Y receptor family member 8 [Gene - OMIM - HGNC]
  • LOC126863208:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:10602208-10603407 [Gene]
  • LOC126863211:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:13687079-13688278 [Gene]
  • LOC126863215:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:16178523-16179722 [Gene]
  • LOC126863195:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:4969484-4970683 [Gene]
  • LOC126863199:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:8313181-8314380 [Gene]
  • LOC126863200:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:8462508-8463707 [Gene]
  • LOC126863205:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:9629664-9630863 [Gene]
  • PIR-FIGF:PIR-FIGF readthrough [Gene]
  • PRKX-AS1:PRKX antisense RNA 1 [Gene - HGNC]
  • RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
  • REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
  • RBBP7:RB binding protein 7, chromatin remodeling factor [Gene - OMIM - HGNC]
  • ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM - HGNC]
  • S100G:S100 calcium binding protein G [Gene - OMIM - HGNC]
  • LOC106029241:S232-VCX2 recombination region [Gene]
  • LOC106029240:S232-VCX3A recombination region [Gene]
  • LOC108251802:SHOX downstream enhancer, distal recombination region [Gene]
  • LOC108251803:SHOX downstream enhancer, proximal recombination region [Gene]
  • SHOX:SHOX homeobox [Gene - OMIM - OMIM - HGNC]
  • LOC125446269:Sharpr-MPRA regulatory region 11092 [Gene]
  • LOC121853051:Sharpr-MPRA regulatory region 12383 [Gene]
  • LOC125446271:Sharpr-MPRA regulatory region 12683 [Gene]
  • LOC113845783:Sharpr-MPRA regulatory region 13392 [Gene]
  • LOC125446265:Sharpr-MPRA regulatory region 13686 [Gene]
  • LOC121627960:Sharpr-MPRA regulatory region 14330 [Gene]
  • LOC125446272:Sharpr-MPRA regulatory region 14622 [Gene]
  • LOC113845784:Sharpr-MPRA regulatory region 2065 [Gene]
  • LOC125446268:Sharpr-MPRA regulatory region 2097 [Gene]
  • LOC121627957:Sharpr-MPRA regulatory region 2843 [Gene]
  • LOC113875006:Sharpr-MPRA regulatory region 4636 [Gene]
  • LOC125446273:Sharpr-MPRA regulatory region 4999 [Gene]
  • LOC113875037:Sharpr-MPRA regulatory region 5189 [Gene]
  • LOC125446270:Sharpr-MPRA regulatory region 5514 [Gene]
  • LOC113845789:Sharpr-MPRA regulatory region 5588 [Gene]
  • LOC121853050:Sharpr-MPRA regulatory region 6238 [Gene]
  • LOC113875040:Sharpr-MPRA regulatory region 7028 [Gene]
  • LOC121627958:Sharpr-MPRA regulatory region 7563 [Gene]
  • LOC121853049:Sharpr-MPRA regulatory region 9039 [Gene]
  • LOC121627961:Sharpr-MPRA regulatory region 9466 [Gene]
  • LOC125446266:Sharpr-MPRA regulatory region 9499 [Gene]
  • TLR8-AS1:TLR8 antisense RNA 1 [Gene - HGNC]
  • WWC3:WWC family member 3 [Gene - OMIM - HGNC]
  • XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
  • ASMTL:acetylserotonin O-methyltransferase like [Gene - OMIM - OMIM - HGNC]
  • ASMT:acetylserotonin O-methyltransferase [Gene - OMIM - OMIM - HGNC]
  • AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
  • AMELX:amelogenin X-linked [Gene - OMIM - HGNC]
  • ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
  • ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
  • ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
  • ANOS1:anosmin 1 [Gene - OMIM - HGNC]
  • ARSD:arylsulfatase D [Gene - OMIM - HGNC]
  • ARSF:arylsulfatase F [Gene - OMIM - HGNC]
  • ARSL:arylsulfatase L [Gene - OMIM - HGNC]
  • ARSH:arylsulfatase family member H [Gene - OMIM - HGNC]
  • ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
  • CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
  • CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
  • CLDN34:claudin 34 [Gene - HGNC]
  • CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
  • CSF2RA:colony stimulating factor 2 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
  • CRLF2:cytokine receptor like factor 2 [Gene - OMIM - OMIM - HGNC]
  • LOC118966792:dACE2 interferon-inducible promoter region [Gene]
  • DHRSX:dehydrogenase/reductase X-linked [Gene - OMIM - HGNC]
  • FAM9A:family with sequence similarity 9 member A [Gene - OMIM - HGNC]
  • FAM9B:family with sequence similarity 9 member B [Gene - OMIM - HGNC]
  • FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
  • GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
  • GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
  • GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
  • GYG2:glycogenin 2 [Gene - OMIM - HGNC]
  • GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
  • HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
  • INE2:inactivation escape 2 [Gene - OMIM - HGNC]
  • IL3RA:interleukin 3 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
  • LINC00102:long intergenic non-protein coding RNA 102 [Gene - HGNC]
  • LINC00106:long intergenic non-protein coding RNA 106 [Gene - HGNC]
  • LINC01203:long intergenic non-protein coding RNA 1203 [Gene - HGNC]
  • LINC01546:long intergenic non-protein coding RNA 1546 [Gene - HGNC]
  • LINC02154:long intergenic non-protein coding RNA 2154 [Gene - HGNC]
  • LINC00685:long intergenic non-protein coding RNA 685 [Gene - HGNC]
  • MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
  • LOC107652445:meiotic recombination hotspot SHOX [Gene]
  • MIR3690:microRNA 3690 [Gene - HGNC]
  • MIR4767:microRNA 4767 [Gene - HGNC]
  • MIR4770:microRNA 4770 [Gene - HGNC]
  • MIR548AM:microRNA 548am [Gene - HGNC]
  • MIR548AX:microRNA 548ax [Gene - HGNC]
  • MIR6086:microRNA 6086 [Gene - HGNC]
  • MIR6089:microRNA 6089 [Gene - HGNC]
  • MIR651:microRNA 651 [Gene - HGNC]
  • MID1:midline 1 [Gene - OMIM - HGNC]
  • MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]
  • NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
  • LOC106799844:nonconserved acetylation island sequence 104 enhancer [Gene]
  • PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
  • PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
  • PLCXD1:phosphatidylinositol specific phospholipase C X domain containing 1 [Gene - OMIM - HGNC]
  • PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM - HGNC]
  • PIR:pirin [Gene - OMIM - HGNC]
  • PRKX:protein kinase cAMP-dependent X-linked catalytic subunit [Gene - OMIM - HGNC]
  • PPP2R3B:protein phosphatase 2 regulatory subunit B''beta [Gene - OMIM - HGNC]
  • PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
  • SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
  • SNORA48B:small nucleolar RNA, H/ACA box 48B [Gene - HGNC]
  • SLC25A6:solute carrier family 25 member 6 [Gene - OMIM - OMIM - HGNC]
  • STS:steroid sulfatase [Gene - OMIM - HGNC]
  • SYAP1:synapse associated protein 1 [Gene - HGNC]
  • TRI-GAT1-1:tRNA-Ile (anticodon GAT) 1-1 [Gene - HGNC]
  • TRI-GAT1-2:tRNA-Ile (anticodon GAT) 1-2 [Gene - HGNC]
  • TRI-GAT1-3:tRNA-Ile (anticodon GAT) 1-3 [Gene - HGNC]
  • TXLNG:taxilin gamma [Gene - OMIM - HGNC]
  • TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
  • TLR7:toll like receptor 7 [Gene - OMIM - HGNC]
  • TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
  • TRAPPC2:trafficking protein particle complex subunit 2 [Gene - OMIM - HGNC]
  • TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - OMIM - HGNC]
  • TBL1X:transducin beta like 1 X-linked [Gene - OMIM - HGNC]
  • LOC101928201:uncharacterized LOC101928201 [Gene]
  • LOC105373133:uncharacterized LOC105373133 [Gene]
  • LOC105373156:uncharacterized LOC105373156 [Gene]
  • LOC107985657:uncharacterized LOC107985657 [Gene]
  • GS1-600G8.3:unknown transcript [Gene]
  • VCX2:variable charge X-linked 2 [Gene - OMIM - HGNC]
  • VCX3A:variable charge X-linked 3A [Gene - OMIM - HGNC]
  • VCX3B:variable charge X-linked 3B [Gene - OMIM - HGNC]
  • VCX:variable charge X-linked [Gene - OMIM - HGNC]
  • VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
  • ZBED1:zinc finger BED-type containing 1 [Gene - OMIM - HGNC]
  • ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Xp22.33-22.2
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1
HGVS:
  • NC_000023.11:g.(?_251879)_(16967290_?)del
  • NC_000023.10:g.(?_168546)_(16985413_?)del
  • NC_000023.9:g.(?_108546)_(16895334_?)del
Links:
dbVar: nssv3394987; dbVar: nsv995783
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
SCV000183210ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 18, 2013) 		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, SCV000183210.4

#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