GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000135310] |
Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 |
copy number gain |
See cases [RCV000133676] |
Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 |
copy number gain |
See cases [RCV000134727] |
Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 |
copy number gain |
See cases [RCV000134509] |
Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134119] |
Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 |
copy number gain |
See cases [RCV000134836] |
Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134842] |
Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q21.1-21.2(chr21:16872635-24024990)x3 |
copy number gain |
See cases [RCV000135653] |
Chr21:16872635..24024990 [GRCh38] Chr21:18244955..25397305 [GRCh37] Chr21:17166826..24319176 [NCBI36] Chr21:21q21.1-21.2 |
uncertain significance |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 |
copy number gain |
See cases [RCV000135448] |
Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q21.1-21.2(chr21:15341716-22826315)x1 |
copy number loss |
See cases [RCV000136931] |
Chr21:15341716..22826315 [GRCh38] Chr21:16714035..24198636 [GRCh37] Chr21:15635906..23120507 [NCBI36] Chr21:21q21.1-21.2 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137255] |
Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137337] |
Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 |
copy number loss |
See cases [RCV000138095] |
Chr21:7749532..37653653 [GRCh38] Chr21:15451032..39025955 [GRCh37] Chr21:14372903..37947825 [NCBI36] Chr21:21p11.2-q22.13 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138216] |
Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1 |
copy number loss |
See cases [RCV000138781] |
Chr21:14112717..21297273 [GRCh38] Chr21:15485038..22669593 [GRCh37] Chr21:14406909..21591464 [NCBI36] Chr21:21q11.2-21.1 |
pathogenic |
GRCh38/hg38 21q21.1(chr21:18623576-20834883)x1 |
copy number loss |
See cases [RCV000138298] |
Chr21:18623576..20834883 [GRCh38] Chr21:19995894..22207201 [GRCh37] Chr21:18917765..21129072 [NCBI36] Chr21:21q21.1 |
pathogenic|likely benign |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138436] |
Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000140103] |
Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 |
copy number gain |
See cases [RCV000141346] |
Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 |
copy number loss |
See cases [RCV000142427] |
Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143376] |
Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) |
copy number gain |
See cases [RCV000143160] |
Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143120] |
Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1 |
copy number loss |
See cases [RCV000143749] |
Chr21:13634137..27862841 [GRCh38] Chr21:15006458..29235160 [GRCh37] Chr21:13928329..28157031 [NCBI36] Chr21:21q11.2-21.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000148131] |
Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000050445] |
Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3 |
copy number gain |
See cases [RCV000053044] |
Chr21:13696993..21440046 [GRCh38] Chr21:15069314..22812366 [GRCh37] Chr21:13991185..21734237 [NCBI36] Chr21:21q11.2-21.1 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 |
copy number gain |
See cases [RCV000053045] |
Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
See cases [RCV000053065] |
Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
See cases [RCV000053067] |
Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000053068] |
Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000053069] |
Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1 |
copy number loss |
See cases [RCV000052798] |
Chr21:13194345..29257208 [GRCh38] Chr21:14566666..30629529 [GRCh37] Chr21:13488537..29551400 [NCBI36] Chr21:21q11.2-21.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 |
copy number loss |
See cases [RCV000052799] |
Chr21:14000720..30903065 [GRCh38] Chr21:15373041..32275384 [GRCh37] Chr21:14294912..31197255 [NCBI36] Chr21:21q11.2-22.11 |
pathogenic |
GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1 |
copy number loss |
See cases [RCV000052801] |
Chr21:14127526..19238720 [GRCh38] Chr21:15499847..20611037 [GRCh37] Chr21:14421718..19532908 [NCBI36] Chr21:21q11.2-21.1 |
pathogenic |
GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3 |
copy number gain |
See cases [RCV000053038] |
Chr21:13076061..19390260 [GRCh38] Chr21:14448382..20762577 [GRCh37] Chr21:13370253..19684448 [NCBI36] Chr21:21q11.2-21.1 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053039] |
Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 |
copy number gain |
See cases [RCV000053040] |
Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053042] |
Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
See cases [RCV000053043] |
Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000141827] |
Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3 |
uncertain significance |
GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985) |
copy number loss |
Monosomy 21 [RCV000225561] |
Chr21:14000146..27785985 [GRCh38] Chr21:21q11.2-21.3 |
pathogenic |
GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614) |
copy number loss |
Monosomy 21 [RCV000225452] |
Chr21:13048294..27532614 [GRCh38] Chr21:21p11.2-q21.3 |
pathogenic |
Single allele |
deletion |
not provided [RCV002266744] |
Chr21:16244543..20363082 [GRCh38] Chr21:21q21.1 |
uncertain significance |