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(chr14:97938637-106855263)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(chr14:100590353-106855264)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(chr14:100808300-106855263)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 14q32.13-32.33(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 14q32.12-32.33(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 14q32.2-32.33(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(chr14:100309382-105987610)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 14q32.2-32.33(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 14q32.2-32.33(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 14q32.12-32.33(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 14q32.2-32.31(chr14:100262836-102500697)x1 |
copy number loss |
See cases [RCV000139723] |
Chr14:100262836..102500697 [GRCh38] Chr14:100729173..102967034 [GRCh37] Chr14:99798926..102036787 [NCBI36] Chr14:14q32.2-32.31 |
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 14q32.2-32.33(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 |
NC_000014.9:g.100806482_101281031del474550 |
deletion |
Paternal uniparental disomy of chromosome 14 [RCV000149429] |
Chr14:100806482..101281031 [GRCh38] Chr14:101272819..101747368 [GRCh37] Chr14:14q32.2-32.31 |
pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) |
copy number gain |
not provided [RCV000767752] |
Chr14:100575917..107281934 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.31(chr14:101468366-101979522)x3 |
copy number gain |
See cases [RCV000449250] |
Chr14:101468366..101979522 [GRCh37] Chr14:14q32.31 |
uncertain significance |
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 |
copy number gain |
See cases [RCV000446497] |
Chr14:98051841..107285437 [GRCh37] Chr14:14q32.2-32.33 |
likely pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 |
copy number loss |
See cases [RCV000511171] |
Chr14:100661319..107285437 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 |
copy number gain |
See cases [RCV000512497] |
Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 |
copy number gain |
not provided [RCV000848687] |
Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855) |
copy number gain |
not provided [RCV000767823] |
Chr14:99737888..101847855 [GRCh37] Chr14:14q32.2-32.31 |
likely pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 |
copy number gain |
not provided [RCV000849272] |
Chr14:99794230..107285437 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 |
copy number gain |
not provided [RCV002472581] |
Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 |
copy number loss |
See cases [RCV001195078] |
Chr14:96829290..107287663 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1 |
copy number loss |
not provided [RCV001827727] |
Chr14:95871795..102457523 [GRCh37] Chr14:14q32.13-32.31 |
pathogenic |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1 |
copy number loss |
Motor developmental delay due to 14q32.2 paternally expressed gene defect [RCV003325926] |
Chr14:100397006..101488936 [GRCh37] Chr14:14q32.2-32.31 |
pathogenic |
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 |
copy number gain |
not provided [RCV003485051] |
Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 |
copy number loss |
not provided [RCV003483217] |
Chr14:101024609..107285437 [GRCh37] Chr14:14q32.2-32.33 |
pathogenic |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3 |
copy number gain |
not specified [RCV003987047] |
Chr14:97705251..103682578 [GRCh37] Chr14:14q32.2-32.32 |
uncertain significance |