| GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 |
copy number loss |
See cases [RCV000050297] |
Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050620]|See cases [RCV000050620] |
Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 |
copy number loss |
See cases [RCV000050621] |
Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 |
copy number loss |
See cases [RCV000050427] |
Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3 |
copy number gain |
See cases [RCV000051073] |
Chr8:4975829..7022841 [GRCh38]
Chr8:4833351..6880363 [GRCh37]
Chr8:4820759..6867773 [NCBI36]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 |
copy number gain |
See cases [RCV000053603] |
Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:2475295-7895064)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053605]|See cases [RCV000053605] |
Chr8:2475295..7895064 [GRCh38]
Chr8:2292235..7752586 [GRCh37]
Chr8:2193565..7789996 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 |
copy number gain |
See cases [RCV000053599] |
Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 |
copy number gain |
See cases [RCV000053600] |
Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:219853-10165486)x3 |
copy number gain |
See cases [RCV000053601] |
Chr8:219853..10165486 [GRCh38]
Chr8:169853..10022996 [GRCh37]
Chr8:159853..10060406 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:219853-7084815)x1 |
copy number loss |
See cases [RCV000054206] |
Chr8:219853..7084815 [GRCh38]
Chr8:169853..6942337 [GRCh37]
Chr8:159853..6929747 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7195723)x1 |
copy number loss |
See cases [RCV000054219] |
Chr8:241530..7195723 [GRCh38]
Chr8:191530..7053245 [GRCh37]
Chr8:181530..7040655 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.994G>A (p.Val332Ile) |
single nucleotide variant |
not provided [RCV000514159] |
Chr8:6514712 [GRCh38]
Chr8:6372233 [GRCh37]
Chr8:8p23.1 |
benign|likely benign |
| NM_024596.5(MCPH1):c.2214+13841A>G |
single nucleotide variant |
not provided [RCV004712131]|not specified [RCV000146290] |
Chr8:6513770 [GRCh38]
Chr8:6371291 [GRCh37]
Chr8:8p23.1 |
benign|likely benign |
| NM_024596.5(MCPH1):c.2214+13853A>G |
single nucleotide variant |
not provided [RCV004712132]|not specified [RCV000146291] |
Chr8:6513782 [GRCh38]
Chr8:6371303 [GRCh37]
Chr8:8p23.1 |
benign|likely benign |
| NM_024596.5(MCPH1):c.2214+19983C>T |
single nucleotide variant |
not provided [RCV004712133]|not specified [RCV000146292] |
Chr8:6519912 [GRCh38]
Chr8:6377433 [GRCh37]
Chr8:8p23.1 |
benign|likely benign |
| NM_024596.5(MCPH1):c.2214+21313C>T |
single nucleotide variant |
not provided [RCV004712134]|not specified [RCV000146293] |
Chr8:6521242 [GRCh38]
Chr8:6378763 [GRCh37]
Chr8:8p23.1 |
benign|likely benign |
| NM_024596.5(MCPH1):c.2214+32439C>A |
single nucleotide variant |
not provided [RCV004712135]|not specified [RCV000146294] |
Chr8:6532368 [GRCh38]
Chr8:6389889 [GRCh37]
Chr8:8p23.1 |
benign|likely benign |
| NM_024596.5(MCPH1):c.2214+32439C>G |
single nucleotide variant |
not provided [RCV004712136]|not specified [RCV000146295] |
Chr8:6532368 [GRCh38]
Chr8:6389889 [GRCh37]
Chr8:8p23.1 |
benign|likely benign |
| NM_024596.5(MCPH1):c.2214C>T (p.Pro738=) |
single nucleotide variant |
Inborn genetic diseases [RCV002512578]|Microcephaly 1, primary, autosomal recessive [RCV000146296] |
Chr8:6499929 [GRCh38]
Chr8:6357450 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) |
copy number gain |
Abnormal fetal cardiovascular morphology [RCV001291977] |
Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1 |
pathogenic |
| NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004020067]|Microcephaly 1, primary, autosomal recessive [RCV000270996]|Short stature [RCV001270063]|not provided [RCV000656854] |
Chr8:6499895 [GRCh38]
Chr8:6357416 [GRCh37]
Chr8:8p23.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x3 |
copy number gain |
See cases [RCV000050620] |
Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:410369-7477103)x1 |
copy number loss |
See cases [RCV000135293] |
Chr8:410369..7477103 [GRCh38]
Chr8:360369..7334625 [GRCh37]
Chr8:350369..7322035 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-10191595)x1 |
copy number loss |
See cases [RCV000134879] |
Chr8:241530..10191595 [GRCh38]
Chr8:191530..10049105 [GRCh37]
Chr8:181530..10086515 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x3 |
copy number gain |
See cases [RCV000135437] |
Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-10867132)x1 |
copy number loss |
See cases [RCV000135534] |
Chr8:241530..10867132 [GRCh38]
Chr8:191530..10724642 [GRCh37]
Chr8:181530..10762052 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 |
copy number gain |
See cases [RCV000135967] |
Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3 |
pathogenic |
| GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 |
copy number gain |
See cases [RCV000136026] |
Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x3 |
copy number gain |
See cases [RCV000135993] |
Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241605-7022824)x1 |
copy number loss |
See cases [RCV000135994] |
Chr8:241605..7022824 [GRCh38]
Chr8:191605..6880346 [GRCh37]
Chr8:181605..6867756 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7056554)x1 |
copy number loss |
See cases [RCV000136824] |
Chr8:241530..7056554 [GRCh38]
Chr8:191530..6914076 [GRCh37]
Chr8:181530..6901486 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:782690-8222398)x3 |
copy number gain |
See cases [RCV000137206] |
Chr8:782690..8222398 [GRCh38]
Chr8:732690..8079920 [GRCh37]
Chr8:722690..8117330 [NCBI36]
Chr8:8p23.3-23.1 |
benign |
| GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 |
copy number gain |
See cases [RCV000137984] |
Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 |
copy number gain |
See cases [RCV000137807] |
Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 |
copy number gain |
See cases [RCV000138831] |
Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:226452-7981437)x3 |
copy number gain |
See cases [RCV000138228] |
Chr8:226452..7981437 [GRCh38]
Chr8:176452..7838959 [GRCh37]
Chr8:166452..7876369 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic|likely benign |
| GRCh38/hg38 8p23.3-23.1(chr8:226452-7062751)x1 |
copy number loss |
See cases [RCV000139342] |
Chr8:226452..7062751 [GRCh38]
Chr8:176452..6920273 [GRCh37]
Chr8:166452..6907683 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:226452-7084815)x1 |
copy number loss |
See cases [RCV000139442] |
Chr8:226452..7084815 [GRCh38]
Chr8:176452..6942337 [GRCh37]
Chr8:166452..6929747 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 |
copy number loss |
See cases [RCV000138943] |
Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:208048-7124466)x1 |
copy number loss |
See cases [RCV000140443] |
Chr8:208048..7124466 [GRCh38]
Chr8:158048..6981988 [GRCh37]
Chr8:148048..6969398 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:208048-7141592)x1 |
copy number loss |
See cases [RCV000139890] |
Chr8:208048..7141592 [GRCh38]
Chr8:158048..6999114 [GRCh37]
Chr8:148048..6986524 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.2-23.1(chr8:2605460-6605579)x3 |
copy number gain |
See cases [RCV000139540] |
Chr8:2605460..6605579 [GRCh38]
Chr8:2498609..6463100 [GRCh37]
Chr8:2421129..6450508 [NCBI36]
Chr8:8p23.2-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 |
copy number gain |
See cases [RCV000141410] |
Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 |
copy number gain |
See cases [RCV000141418] |
Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22 |
pathogenic |
| GRCh38/hg38 8p23.2-23.1(chr8:2605460-7026475)x3 |
copy number gain |
See cases [RCV000140846] |
Chr8:2605460..7026475 [GRCh38]
Chr8:2498609..6883997 [GRCh37]
Chr8:2393844..6871407 [NCBI36]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1(chr8:6356671-6733232)x1 |
copy number loss |
See cases [RCV000141798] |
Chr8:6356671..6733232 [GRCh38]
Chr8:6214192..6590753 [GRCh37]
Chr8:6201600..6578161 [NCBI36]
Chr8:8p23.1 |
uncertain significance |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)x1 |
copy number loss |
See cases [RCV000142596] |
Chr8:241530..10458484 [GRCh38]
Chr8:191530..10315994 [GRCh37]
Chr8:181530..10353404 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:208048-7141698)x3 |
copy number gain |
See cases [RCV000143378] |
Chr8:208048..7141698 [GRCh38]
Chr8:158048..6999220 [GRCh37]
Chr8:148048..6986630 [NCBI36]
Chr8:8p23.3-23.1 |
uncertain significance |
| GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 |
copy number gain |
See cases [RCV000143248] |
Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:208048-7186524)x4 |
copy number gain |
See cases [RCV000143758] |
Chr8:208048..7186524 [GRCh38]
Chr8:158048..7044046 [GRCh37]
Chr8:148048..7031456 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:208048-7087252)x1 |
copy number loss |
See cases [RCV000143507] |
Chr8:208048..7087252 [GRCh38]
Chr8:158048..6944774 [GRCh37]
Chr8:148048..6932184 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7022841)x1 |
copy number loss |
See cases [RCV000148128] |
Chr8:241530..7022841 [GRCh38]
Chr8:191530..6880363 [GRCh37]
Chr8:181530..6867773 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-23.1(chr8:241530-7895064)x1 |
copy number loss |
See cases [RCV000148253] |
Chr8:241530..7895064 [GRCh38]
Chr8:191530..7752586 [GRCh37]
Chr8:181530..7789996 [NCBI36]
Chr8:8p23.3-23.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 |
copy number loss |
See cases [RCV000148252] |
Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1 |
pathogenic |
| GRCh37/hg19 8p23.3-22(chr8:158991-13304906)x3 |
copy number gain |
See cases [RCV000240124] |
Chr8:158991..13304906 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| GRCh37/hg19 8p23.1(chr8:6263102-6500749)x3 |
copy number gain |
See cases [RCV000240042] |
Chr8:6263102..6500749 [GRCh37]
Chr8:8p23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6944233)x1 |
copy number loss |
See cases [RCV000446038] |
Chr8:158048..6944233 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444) |
copy number loss |
Tetralogy of Fallot [RCV000767677] |
Chr8:194617..7787444 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:164984-11860845)x3 |
copy number gain |
See cases [RCV000239409] |
Chr8:164984..11860845 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) |
single nucleotide variant |
Autosomal recessive primary microcephaly [RCV001844112]|Intellectual disability [RCV001251830]|MCPH1-related disorder [RCV003947899]|Microcephaly 1, primary, autosomal recessive [RCV000351713]|not provided [RCV000481434] |
Chr8:6499860 [GRCh38]
Chr8:6357381 [GRCh37]
Chr8:8p23.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:190822-6735381)x1 |
copy number loss |
See cases [RCV000240454] |
Chr8:190822..6735381 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| Single allele |
deletion |
not provided [RCV000768453] |
Chr8:155001..6955001 [GRCh37]
Chr8:8p23.3-23.1 |
likely pathogenic |
| GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 |
copy number gain |
See cases [RCV000449225] |
Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6460877)x1 |
copy number loss |
See cases [RCV000449227] |
Chr8:158048..6460877 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:190822-6735327)x1 |
copy number loss |
See cases [RCV000446817] |
Chr8:190822..6735327 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:163166-6735327)x1 |
copy number loss |
See cases [RCV000447564] |
Chr8:163166..6735327 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 |
copy number gain |
See cases [RCV000448695] |
Chr8:158991..17536147 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 |
copy number loss |
See cases [RCV000447872] |
Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 |
copy number gain |
See cases [RCV000447909] |
Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:1166068-12570914)x3 |
copy number gain |
See cases [RCV000448692] |
Chr8:1166068..12570914 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-22(chr8:158048-13309069)x1 |
copy number loss |
See cases [RCV000510201] |
Chr8:158048..13309069 [GRCh37]
Chr8:8p23.3-22 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002524227]|Microcephaly 1, primary, autosomal recessive [RCV003129874]|not provided [RCV001857129]|not specified [RCV000502495] |
Chr8:6499925 [GRCh38]
Chr8:6357446 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6982980)x1 |
copy number loss |
See cases [RCV000510343] |
Chr8:158048..6982980 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x3 |
copy number gain |
See cases [RCV000511784] |
Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-9749574)x1 |
copy number loss |
See cases [RCV000510827] |
Chr8:158048..9749574 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-7044046)x1 |
copy number loss |
See cases [RCV000511133] |
Chr8:158048..7044046 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:6197181-6494655)x1 |
copy number loss |
See cases [RCV000511156] |
Chr8:6197181..6494655 [GRCh37]
Chr8:8p23.2-23.1 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001118887.2(ANGPT2):c.1389G>T (p.Gln463His) |
single nucleotide variant |
not specified [RCV004333732] |
Chr8:6503200 [GRCh38]
Chr8:6360721 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918) |
copy number loss |
Autism [RCV000626544] |
Chr8:194617..6816918 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251) |
copy number loss |
Intellectual disability [RCV000626543] |
Chr8:191530..6644251 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:4548026-6505115)x4 |
copy number gain |
See cases [RCV000512576] |
Chr8:4548026..6505115 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.1(chr8:6270298-6374065)x1 |
copy number loss |
not provided [RCV000682928] |
Chr8:6270298..6374065 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-10939681)x1 |
copy number loss |
not provided [RCV000683036] |
Chr8:158048..10939681 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-22(chr8:168483-13147575)x1,2 |
copy number gain |
not provided [RCV000683037] |
Chr8:168483..13147575 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:6098243-6563253)x4 |
copy number gain |
not provided [RCV000682980] |
Chr8:6098243..6563253 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-9750676)x3 |
copy number gain |
not provided [RCV000683034] |
Chr8:158048..9750676 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3 |
copy number gain |
not provided [RCV000683039] |
Chr8:158048..13974319 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6999114)x1 |
copy number loss |
not provided [RCV000683032] |
Chr8:158048..6999114 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 |
copy number gain |
not provided [RCV000683042] |
Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2 |
pathogenic |
| GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3 |
copy number gain |
not provided [RCV000683040] |
Chr8:158048..15423270 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| NM_024596.5(MCPH1):c.2137-166A>G |
single nucleotide variant |
not provided [RCV001546378] |
Chr8:6499686 [GRCh38]
Chr8:6357207 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2137-208G>A |
single nucleotide variant |
not provided [RCV001540974] |
Chr8:6499644 [GRCh38]
Chr8:6357165 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:10213-8948469)x1 |
copy number loss |
not provided [RCV000747246] |
Chr8:10213..8948469 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:10213-10197718)x1 |
copy number loss |
not provided [RCV000747247] |
Chr8:10213..10197718 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:164984-10007227)x1 |
copy number loss |
not provided [RCV000747253] |
Chr8:164984..10007227 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:4038869-6514185)x1 |
copy number loss |
not provided [RCV000747306] |
Chr8:4038869..6514185 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.1206T>C (p.Leu402=) |
single nucleotide variant |
not provided [RCV000896808] |
Chr8:6509053 [GRCh38]
Chr8:6366574 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_001118887.2(ANGPT2):c.462G>A (p.Thr154=) |
single nucleotide variant |
not provided [RCV000963901] |
Chr8:6527659 [GRCh38]
Chr8:6385180 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_001118887.2(ANGPT2):c.1086G>A (p.Leu362=) |
single nucleotide variant |
not provided [RCV000916435] |
Chr8:6513788 [GRCh38]
Chr8:6371309 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.3-23.1(chr8:176814-7753583)x1 |
copy number loss |
not provided [RCV000762736] |
Chr8:176814..7753583 [GRCh37]
Chr8:8p23.3-23.1 |
likely pathogenic |
| NM_001118887.2(ANGPT2):c.929C>T (p.Ala310Val) |
single nucleotide variant |
not provided [RCV000970995] |
Chr8:6514777 [GRCh38]
Chr8:6372298 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_001118887.2(ANGPT2):c.805G>C (p.Asp269His) |
single nucleotide variant |
not provided [RCV000900020] |
Chr8:6519986 [GRCh38]
Chr8:6377507 [GRCh37]
Chr8:8p23.1 |
benign |
| GRCh37/hg19 8p23.3-22(chr8:194617-13947374) |
copy number gain |
not provided [RCV000767676] |
Chr8:194617..13947374 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:184617-6804328) |
copy number gain |
not provided [RCV000767678] |
Chr8:184617..6804328 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.1383G>A (p.Gln461=) |
single nucleotide variant |
not provided [RCV000915632] |
Chr8:6503206 [GRCh38]
Chr8:6360727 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_001118887.2(ANGPT2):c.566+9A>C |
single nucleotide variant |
not provided [RCV000969223] |
Chr8:6527546 [GRCh38]
Chr8:6385067 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_024596.5(MCPH1):c.2202C>A (p.Phe734Leu) |
single nucleotide variant |
not provided [RCV000897178] |
Chr8:6499917 [GRCh38]
Chr8:6357438 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1 |
copy number loss |
not provided [RCV000847768] |
Chr8:158048..14214722 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| GRCh37/hg19 8p23.1(chr8:6287703-6619261)x3 |
copy number gain |
not provided [RCV000849700] |
Chr8:6287703..6619261 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-9025197)x1 |
copy number loss |
not provided [RCV001006043] |
Chr8:158048..9025197 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.704T>C (p.Val235Ala) |
single nucleotide variant |
not provided [RCV000897436] |
Chr8:6521273 [GRCh38]
Chr8:6378794 [GRCh37]
Chr8:8p23.1 |
benign |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6940661)x1 |
copy number loss |
not provided [RCV000846153] |
Chr8:158048..6940661 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6984438)x1 |
copy number loss |
not provided [RCV000847001] |
Chr8:158048..6984438 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:4039184-6516311)x1 |
copy number loss |
not provided [RCV000847816] |
Chr8:4039184..6516311 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-9393052)x1 |
copy number loss |
not provided [RCV000845663] |
Chr8:158048..9393052 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6828766)x1 |
copy number loss |
not provided [RCV000849211] |
Chr8:158048..6828766 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.1(chr8:6270095-6466608)x1 |
copy number loss |
not provided [RCV000846939] |
Chr8:6270095..6466608 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2137-102C>T |
single nucleotide variant |
not provided [RCV001564457] |
Chr8:6499750 [GRCh38]
Chr8:6357271 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-6969688)x1 |
copy number loss |
not provided [RCV000846342] |
Chr8:158048..6969688 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_001118887.2(ANGPT2):c.785T>C (p.Met262Thr) |
single nucleotide variant |
not specified [RCV004292923] |
Chr8:6521192 [GRCh38]
Chr8:6378713 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.2-23.1(chr8:5887223-6999114)x1 |
copy number loss |
not provided [RCV001006057] |
Chr8:5887223..6999114 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2214+161C>T |
single nucleotide variant |
not provided [RCV001533925] |
Chr8:6500090 [GRCh38]
Chr8:6357611 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_024596.5(MCPH1):c.2137-138A>T |
single nucleotide variant |
not provided [RCV001667535] |
Chr8:6499714 [GRCh38]
Chr8:6357235 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_024596.5(MCPH1):c.2195A>C (p.His732Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003293812] |
Chr8:6499910 [GRCh38]
Chr8:6357431 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.778A>T (p.Thr260Ser) |
single nucleotide variant |
not provided [RCV000888112] |
Chr8:6521199 [GRCh38]
Chr8:6378720 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_001118887.2(ANGPT2):c.96G>A (p.Lys32=) |
single nucleotide variant |
not provided [RCV000954045] |
Chr8:6562839 [GRCh38]
Chr8:6420360 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_001118887.2(ANGPT2):c.492C>T (p.Ser164=) |
single nucleotide variant |
not provided [RCV000910894] |
Chr8:6527629 [GRCh38]
Chr8:6385150 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_024596.5(MCPH1):c.2137-7C>T |
single nucleotide variant |
Microcephaly 1, primary, autosomal recessive [RCV001158396]|not provided [RCV002070951] |
Chr8:6499845 [GRCh38]
Chr8:6357366 [GRCh37]
Chr8:8p23.1 |
likely benign|uncertain significance |
| NM_001118887.2(ANGPT2):c.498G>C (p.Ser166=) |
single nucleotide variant |
not provided [RCV000911076] |
Chr8:6527623 [GRCh38]
Chr8:6385144 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1 |
copy number loss |
not provided [RCV002472557] |
Chr8:158049..18936715 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-8102819)x3 |
copy number gain |
not provided [RCV001006042] |
Chr8:158048..8102819 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_024596.5(MCPH1):c.2137-182T>C |
single nucleotide variant |
not provided [RCV001655385] |
Chr8:6499670 [GRCh38]
Chr8:6357191 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_024596.5(MCPH1):c.2199C>G (p.His733Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004032833]|Microcephaly 1, primary, autosomal recessive [RCV001158397]|not provided [RCV003546666] |
Chr8:6499914 [GRCh38]
Chr8:6357435 [GRCh37]
Chr8:8p23.1 |
likely benign|uncertain significance |
| NM_024596.5(MCPH1):c.2137-66T>C |
single nucleotide variant |
not provided [RCV001530634] |
Chr8:6499786 [GRCh38]
Chr8:6357307 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_024596.5(MCPH1):c.2214+2T>C |
single nucleotide variant |
Microcephaly 1, primary, autosomal recessive [RCV001095704]|not provided [RCV001567554] |
Chr8:6499931 [GRCh38]
Chr8:6357452 [GRCh37]
Chr8:8p23.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521) |
copy number loss |
Microcephaly 1, primary, autosomal recessive [RCV001195154] |
Chr8:6160874..6500521 [GRCh37]
Chr8:8p23.2-23.1 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:2308926-6939296)x3 |
copy number gain |
Short stature [RCV001004812] |
Chr8:2308926..6939296 [GRCh37]
Chr8:8p23.2-23.1 |
likely pathogenic |
| NM_024596.5(MCPH1):c.2137G>T (p.Val713Leu) |
single nucleotide variant |
not provided [RCV001090296] |
Chr8:6499852 [GRCh38]
Chr8:6357373 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1 |
copy number loss |
Cerebellar ataxia [RCV001251057] |
Chr8:176814..11472913 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:5950546-6703513)x1 |
copy number loss |
not provided [RCV001260038] |
Chr8:5950546..6703513 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.2-23.1(chr8:6180484-6554615)x1 |
copy number loss |
not provided [RCV001260039] |
Chr8:6180484..6554615 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:411691-6999114)x1 |
copy number loss |
not provided [RCV001258401] |
Chr8:411691..6999114 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.893C>T (p.Thr298Met) |
single nucleotide variant |
Lymphatic malformation 10 [RCV001479013] |
Chr8:6519898 [GRCh38]
Chr8:6377419 [GRCh37]
Chr8:8p23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.1301G>C (p.Cys434Ser) |
single nucleotide variant |
Lymphatic malformation 10 [RCV001479014] |
Chr8:6508958 [GRCh38]
Chr8:6366479 [GRCh37]
Chr8:8p23.1 |
pathogenic |
| NM_024596.5(MCPH1):c.2214+189T>C |
single nucleotide variant |
not provided [RCV001655055] |
Chr8:6500118 [GRCh38]
Chr8:6357639 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_024596.5(MCPH1):c.2214+174G>A |
single nucleotide variant |
not provided [RCV001584954] |
Chr8:6500103 [GRCh38]
Chr8:6357624 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NC_000008.11:g.(?_6499632)_(6563245_?)del |
deletion |
Lymphatic malformation 10 [RCV001479011] |
Chr8:6499632..6563245 [GRCh38]
Chr8:8p23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:10501-7214947)x1 |
copy number loss |
Obesity [RCV001801195] |
Chr8:10501..7214947 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_024596.5(MCPH1):c.2189T>A (p.Leu730Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002642168]|not provided [RCV002022565] |
Chr8:6499904 [GRCh38]
Chr8:6357425 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.2-23.1(chr8:5968739-6496889) |
copy number gain |
not specified [RCV002053753] |
Chr8:5968739..6496889 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3 |
copy number gain |
not provided [RCV001827598] |
Chr8:158048..11936107 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NC_000008.10:g.(?_6299568)_(6500570_?)del |
deletion |
not provided [RCV002004755] |
Chr8:6299568..6500570 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2214+5G>T |
single nucleotide variant |
not provided [RCV001936150] |
Chr8:6499934 [GRCh38]
Chr8:6357455 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NC_000008.10:g.(?_6264189)_(6420455_?)del |
deletion |
not provided [RCV001972479] |
Chr8:6264189..6420455 [GRCh37]
Chr8:8p23.1 |
pathogenic |
| NM_024596.5(MCPH1):c.2137-9C>T |
single nucleotide variant |
not provided [RCV002088690] |
Chr8:6499843 [GRCh38]
Chr8:6357364 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2137-13G>C |
single nucleotide variant |
not provided [RCV002106840] |
Chr8:6499839 [GRCh38]
Chr8:6357360 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NC_000008.10:g.(?_6264189)_(6500570_?)del |
deletion |
not provided [RCV003122673] |
Chr8:6264189..6500570 [GRCh37]
Chr8:8p23.1 |
pathogenic |
| NC_000008.10:g.(?_6372178)_(6500570_?)del |
deletion |
not provided [RCV003122676] |
Chr8:6372178..6500570 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NC_000008.10:g.(?_6357353)_(6357470_?)del |
deletion |
not provided [RCV003122678] |
Chr8:6357353..6357470 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| Single allele |
complex |
See cases [RCV002292428] |
Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-10348413) |
copy number gain |
Neurodevelopmental delay [RCV002280754] |
Chr8:158048..10348413 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.882T>C (p.Asn294=) |
single nucleotide variant |
not provided [RCV002293185] |
Chr8:6519909 [GRCh38]
Chr8:6377430 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 |
copy number loss |
See cases [RCV002286343] |
Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1 |
copy number loss |
See cases [RCV002287568] |
Chr8:158048..11281408 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| Single allele |
complex |
8p inverted duplication/deletion syndrome [RCV002280753] |
Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21 |
pathogenic |
| NM_001118887.2(ANGPT2):c.322G>C (p.Glu108Gln) |
single nucleotide variant |
not specified [RCV004300702] |
Chr8:6532454 [GRCh38]
Chr8:6389975 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.1(chr8:6284373-9047178)x3 |
copy number gain |
not provided [RCV002472889] |
Chr8:6284373..9047178 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1 |
copy number loss |
not provided [RCV002474566] |
Chr8:158049..10965627 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.1423T>C (p.Tyr475His) |
single nucleotide variant |
not specified [RCV004146150] |
Chr8:6503166 [GRCh38]
Chr8:6360687 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.630A>C (p.Lys210Asn) |
single nucleotide variant |
not specified [RCV004114677] |
Chr8:6521347 [GRCh38]
Chr8:6378868 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.1105G>A (p.Val369Met) |
single nucleotide variant |
not specified [RCV004103764] |
Chr8:6513769 [GRCh38]
Chr8:6371290 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.182T>G (p.Val61Gly) |
single nucleotide variant |
not specified [RCV004125106] |
Chr8:6562753 [GRCh38]
Chr8:6420274 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.602A>G (p.Lys201Arg) |
single nucleotide variant |
not specified [RCV004170488] |
Chr8:6521375 [GRCh38]
Chr8:6378896 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2203C>T (p.Pro735Ser) |
single nucleotide variant |
not provided [RCV002573104] |
Chr8:6499918 [GRCh38]
Chr8:6357439 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.556G>C (p.Asp186His) |
single nucleotide variant |
not specified [RCV004073687] |
Chr8:6527565 [GRCh38]
Chr8:6385086 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.526G>A (p.Asp176Asn) |
single nucleotide variant |
not specified [RCV004176623] |
Chr8:6527595 [GRCh38]
Chr8:6385116 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.68G>C (p.Arg23Pro) |
single nucleotide variant |
not specified [RCV004148105] |
Chr8:6562867 [GRCh38]
Chr8:6420388 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2214+1_2214+3delinsTGC |
indel |
not provided [RCV003048609] |
Chr8:6499930..6499932 [GRCh38]
Chr8:6357451..6357453 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.292G>A (p.Glu98Lys) |
single nucleotide variant |
not specified [RCV004174036] |
Chr8:6532484 [GRCh38]
Chr8:6390005 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.713C>T (p.Thr238Met) |
single nucleotide variant |
not specified [RCV004292286] |
Chr8:6521264 [GRCh38]
Chr8:6378785 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2214+1G>A |
single nucleotide variant |
Microcephaly 1, primary, autosomal recessive [RCV003142376] |
Chr8:6499930 [GRCh38]
Chr8:6357451 [GRCh37]
Chr8:8p23.1 |
likely pathogenic |
| NM_001118887.2(ANGPT2):c.374T>C (p.Ile125Thr) |
single nucleotide variant |
not specified [RCV004253161] |
Chr8:6532402 [GRCh38]
Chr8:6389923 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.256A>T (p.Ile86Phe) |
single nucleotide variant |
not specified [RCV004297810] |
Chr8:6562679 [GRCh38]
Chr8:6420200 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:10501-6614959)x1 |
copy number loss |
See cases [RCV003329559] |
Chr8:10501..6614959 [GRCh37]
Chr8:8p23.3-23.1 |
likely pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1 |
copy number loss |
See cases [RCV003329533] |
Chr8:10501..11142629 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 |
copy number loss |
Neurodevelopmental disorder [RCV003327729] |
Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2 |
pathogenic |
| NM_001118887.2(ANGPT2):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
not specified [RCV004358600] |
Chr8:6514724 [GRCh38]
Chr8:6372245 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.161G>T (p.Arg54Leu) |
single nucleotide variant |
not specified [RCV004354106] |
Chr8:6562774 [GRCh38]
Chr8:6420295 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.2-23.1(chr8:6112580-6498511)x1 |
copy number loss |
not provided [RCV003483012] |
Chr8:6112580..6498511 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2214+20A>G |
single nucleotide variant |
not provided [RCV003569097] |
Chr8:6499949 [GRCh38]
Chr8:6357470 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2137-11G>A |
single nucleotide variant |
not provided [RCV003569034] |
Chr8:6499841 [GRCh38]
Chr8:6357362 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 |
copy number gain |
not provided [RCV003484713] |
Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1 |
copy number loss |
not provided [RCV003482999] |
Chr8:158049..11898696 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158049-10007143)x1 |
copy number loss |
not provided [RCV003482998] |
Chr8:158049..10007143 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.3-23.1(chr8:158049-8192683)x1 |
copy number loss |
not provided [RCV003483000] |
Chr8:158049..8192683 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| GRCh37/hg19 8p23.2-23.1(chr8:6016801-6999114)x3 |
copy number gain |
not provided [RCV003484717] |
Chr8:6016801..6999114 [GRCh37]
Chr8:8p23.2-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158049-7044046)x3 |
copy number gain |
not provided [RCV003484711] |
Chr8:158049..7044046 [GRCh37]
Chr8:8p23.3-23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-23.1(chr8:158049-8093066)x1 |
copy number loss |
not provided [RCV003482997] |
Chr8:158049..8093066 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| Single allele |
deletion |
not provided [RCV003448707] |
Chr8:162266..7226691 [GRCh37]
Chr8:8p23.3-23.1 |
pathogenic |
| NM_024596.5(MCPH1):c.2142A>G (p.Leu714=) |
single nucleotide variant |
not provided [RCV003849126] |
Chr8:6499857 [GRCh38]
Chr8:6357378 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2214+10A>T |
single nucleotide variant |
not provided [RCV003696449] |
Chr8:6499939 [GRCh38]
Chr8:6357460 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2178G>A (p.Glu726=) |
single nucleotide variant |
not provided [RCV003691687] |
Chr8:6499893 [GRCh38]
Chr8:6357414 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2196C>T (p.His732=) |
single nucleotide variant |
not provided [RCV003694335] |
Chr8:6499911 [GRCh38]
Chr8:6357432 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2214+12G>A |
single nucleotide variant |
not provided [RCV003712878] |
Chr8:6499941 [GRCh38]
Chr8:6357462 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2137-16G>A |
single nucleotide variant |
not provided [RCV003838081] |
Chr8:6499836 [GRCh38]
Chr8:6357357 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2199C>T (p.His733=) |
single nucleotide variant |
not provided [RCV003667969] |
Chr8:6499914 [GRCh38]
Chr8:6357435 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2211T>C (p.Ala737=) |
single nucleotide variant |
not provided [RCV003701571] |
Chr8:6499926 [GRCh38]
Chr8:6357447 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2214+15G>A |
single nucleotide variant |
not provided [RCV003703685] |
Chr8:6499944 [GRCh38]
Chr8:6357465 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2137-19C>T |
single nucleotide variant |
not provided [RCV003665207] |
Chr8:6499833 [GRCh38]
Chr8:6357354 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2155T>C (p.Leu719=) |
single nucleotide variant |
not provided [RCV003671725] |
Chr8:6499870 [GRCh38]
Chr8:6357391 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2205T>C (p.Pro735=) |
single nucleotide variant |
not provided [RCV003833348] |
Chr8:6499920 [GRCh38]
Chr8:6357441 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2160T>A (p.Gly720=) |
single nucleotide variant |
not provided [RCV003811424] |
Chr8:6499875 [GRCh38]
Chr8:6357396 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2137-19C>G |
single nucleotide variant |
not provided [RCV003558209] |
Chr8:6499833 [GRCh38]
Chr8:6357354 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2137-13G>T |
single nucleotide variant |
not provided [RCV003819642] |
Chr8:6499839 [GRCh38]
Chr8:6357360 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2214+9G>C |
single nucleotide variant |
not provided [RCV003841241] |
Chr8:6499938 [GRCh38]
Chr8:6357459 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2184C>T (p.Phe728=) |
single nucleotide variant |
not provided [RCV003846195] |
Chr8:6499899 [GRCh38]
Chr8:6357420 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.1(chr8:6238192-6537470)x1 |
copy number loss |
not specified [RCV003986746] |
Chr8:6238192..6537470 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.125G>A (p.Ser42Asn) |
single nucleotide variant |
not provided [RCV003682904] |
Chr8:6562810 [GRCh38]
Chr8:6420331 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 |
copy number gain |
not specified [RCV003986756] |
Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21 |
pathogenic |
| NM_024596.5(MCPH1):c.2214+18T>A |
single nucleotide variant |
not provided [RCV003719301] |
Chr8:6499947 [GRCh38]
Chr8:6357468 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2214+12del |
deletion |
not provided [RCV003853322] |
Chr8:6499941 [GRCh38]
Chr8:6357462 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2181G>A (p.Pro727=) |
single nucleotide variant |
not provided [RCV003867868] |
Chr8:6499896 [GRCh38]
Chr8:6357417 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2214+17T>C |
single nucleotide variant |
not provided [RCV003568382] |
Chr8:6499946 [GRCh38]
Chr8:6357467 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_024596.5(MCPH1):c.2214+7C>A |
single nucleotide variant |
not provided [RCV003681450] |
Chr8:6499936 [GRCh38]
Chr8:6357457 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3 |
copy number gain |
See cases [RCV004442825] |
Chr8:158049..16225393 [GRCh37]
Chr8:8p23.3-22 |
pathogenic |
| NM_024596.5(MCPH1):c.2214+13834T>G |
single nucleotide variant |
Microcephaly 1, primary, autosomal recessive [RCV003990161] |
Chr8:6513763 [GRCh38]
Chr8:6371284 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_024596.5(MCPH1):c.2214C>G (p.Pro738=) |
single nucleotide variant |
MCPH1-related disorder [RCV003981687] |
Chr8:6499929 [GRCh38]
Chr8:6357450 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_001118887.2(ANGPT2):c.300T>C (p.Tyr100=) |
single nucleotide variant |
ANGPT2-related disorder [RCV003899742] |
Chr8:6532476 [GRCh38]
Chr8:6389997 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_001118887.2(ANGPT2):c.1394C>G (p.Thr465Arg) |
single nucleotide variant |
not provided [RCV004546403] |
Chr8:6503195 [GRCh38]
Chr8:6360716 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_001118887.2(ANGPT2):c.139C>T (p.Leu47=) |
single nucleotide variant |
ANGPT2-related disorder [RCV003934499] |
Chr8:6562796 [GRCh38]
Chr8:6420317 [GRCh37]
Chr8:8p23.1 |
likely benign |
| GRCh37/hg19 8p23.2-23.1(chr8:5908975-6631197)x1 |
copy number loss |
not specified [RCV003986731] |
Chr8:5908975..6631197 [GRCh37]
Chr8:8p23.2-23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.1099C>T (p.Arg367Cys) |
single nucleotide variant |
not specified [RCV004412650] |
Chr8:6513775 [GRCh38]
Chr8:6371296 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.222T>G (p.Asp74Glu) |
single nucleotide variant |
not specified [RCV004412673] |
Chr8:6562713 [GRCh38]
Chr8:6420234 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.855A>T (p.Glu285Asp) |
single nucleotide variant |
not specified [RCV004412711] |
Chr8:6519936 [GRCh38]
Chr8:6377457 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NM_001118887.2(ANGPT2):c.212T>C (p.Leu71Pro) |
single nucleotide variant |
not specified [RCV004628719] |
Chr8:6562723 [GRCh38]
Chr8:6420244 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
| NC_000008.10:g.(?_6264189)_(6479232_?)del |
deletion |
not provided [RCV004583358] |
Chr8:6264189..6479232 [GRCh37]
Chr8:8p23.1 |
pathogenic |
| NM_001118887.2(ANGPT2):c.714G>A (p.Thr238=) |
single nucleotide variant |
not provided [RCV004575117] |
Chr8:6521263 [GRCh38]
Chr8:6378784 [GRCh37]
Chr8:8p23.1 |
likely benign |
| NM_001118887.2(ANGPT2):c.1155G>C (p.Leu385Phe) |
single nucleotide variant |
not provided [RCV004722519] |
Chr8:6513719 [GRCh38]
Chr8:6371240 [GRCh37]
Chr8:8p23.1 |
benign |
| NM_001118887.2(ANGPT2):c.958G>C (p.Gly320Arg) |
single nucleotide variant |
Lymphatic malformation 10 [RCV004764432] |
Chr8:6514748 [GRCh38]
Chr8:6372269 [GRCh37]
Chr8:8p23.1 |
uncertain significance |
