GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 |
copy number loss |
See cases [RCV000133831] |
Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 |
copy number gain |
See cases [RCV000134000] |
Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 |
copy number gain |
See cases [RCV000135400] |
Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1 |
copy number loss |
See cases [RCV000135781] |
Chr14:104622881..106678844 [GRCh38] Chr14:105017236..107134861 [GRCh37] Chr14:104088281..106205906 [NCBI36] Chr14:14q32.33 |
uncertain significance |
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 |
copy number gain |
See cases [RCV000135875] |
Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 |
copy number gain |
See cases [RCV000135410] |
Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 |
copy number gain |
See cases [RCV000135896] |
Chr14:92540983..104863658 [GRCh38] Chr14:93007328..105329995 [GRCh37] Chr14:92077081..104401040 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 |
copy number loss |
See cases [RCV000136032] |
Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 |
copy number gain |
See cases [RCV000138230] |
Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 |
copy number loss |
See cases [RCV000139633] |
Chr14:101925670..106876323 [GRCh38] Chr14:102392007..107284531 [GRCh37] Chr14:101461760..106355576 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 |
copy number loss |
See cases [RCV000141932] |
Chr14:102239422..106877229 [GRCh38] Chr14:102705759..107285437 [GRCh37] Chr14:101775512..106356482 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 |
copy number loss |
See cases [RCV000142453] |
Chr14:101665602..106855263 [GRCh38] Chr14:102131939..107263478 [GRCh37] Chr14:101201692..106334523 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1 |
copy number loss |
See cases [RCV000142333] |
Chr14:104051258..106877229 [GRCh38] Chr14:104517595..107285437 [GRCh37] Chr14:103587348..106356482 [NCBI36] Chr14:14q32.33 |
pathogenic |
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1 |
copy number loss |
See cases [RCV000142803] |
Chr14:103823600..106879298 [GRCh38] Chr14:104289937..107287505 [GRCh37] Chr14:103359690..106358550 [NCBI36] Chr14:14q32.33 |
pathogenic |
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 |
copy number gain |
See cases [RCV000142593] |
Chr14:103322414..106855263 [GRCh38] Chr14:103788751..107263478 [GRCh37] Chr14:102858504..106334523 [NCBI36] Chr14:14q32.32-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 |
copy number loss |
See cases [RCV000143154] |
Chr14:102605096..106879298 [GRCh38] Chr14:103071433..107287505 [GRCh37] Chr14:102141186..106358550 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 |
copy number loss |
See cases [RCV000143662] |
Chr14:100582059..106877229 [GRCh38] Chr14:101048396..107285437 [GRCh37] Chr14:100118149..106356482 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 |
copy number loss |
See cases [RCV000051578] |
Chr14:101994084..106855405 [GRCh38] Chr14:102460421..107263620 [GRCh37] Chr14:101530174..106334665 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 |
copy number loss |
See cases [RCV000051580] |
Chr14:102584963..104898605 [GRCh38] Chr14:103051300..105364942 [GRCh37] Chr14:102121053..104435987 [NCBI36] Chr14:14q32.31-32.33 |
pathogenic |
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1 |
copy number loss |
See cases [RCV000051581] |
Chr14:103784758..106870558 [GRCh38] Chr14:104251095..107278770 [GRCh37] Chr14:103320848..106349815 [NCBI36] Chr14:14q32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] |
Chr14:100590353..106855264 [GRCh38] Chr14:101056690..107263479 [GRCh37] Chr14:100126443..106334524 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 |
copy number loss |
See cases [RCV000050696] |
Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 |
copy number loss |
See cases [RCV000050938] |
Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 |
copy number loss |
See cases [RCV000051113] |
Chr14:100808300..106855263 [GRCh38] Chr14:101274637..107263478 [GRCh37] Chr14:100344390..106334523 [NCBI36] Chr14:14q32.2-32.33 |
pathogenic |
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 |
copy number gain |
See cases [RCV000052294] |
Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33 |
pathogenic |
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 |
copy number gain |
See cases [RCV000052295] |
Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33 |
pathogenic |
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 |
copy number gain |
See cases [RCV000052296] |
Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33 |
pathogenic |
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] |
Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33 |
pathogenic |
GRCh38/hg38 14q32.33(chr14:104309234-104898546)x3 |
copy number gain |
See cases [RCV000052101] |
Chr14:104309234..104898546 [GRCh38] Chr14:104775571..105364883 [GRCh37] Chr14:103846616..104435928 [NCBI36] Chr14:14q32.33 |
uncertain significance |
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 |
copy number loss |
Neurodevelopmental disorder [RCV003327606] |
Chr14:102263440..106874929 [GRCh38] Chr14:14q32.31-32.33 |
pathogenic |