NM_003681.5(PDXK):c.407A>G (p.Tyr136Cys) |
single nucleotide variant |
not specified [RCV004307915] |
Chr21:43749023 [GRCh38] Chr21:45168904 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.148G>A (p.Ala50Thr) |
single nucleotide variant |
not specified [RCV004296033] |
Chr21:43741672 [GRCh38] Chr21:45161553 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.760-8C>A |
single nucleotide variant |
PDXK-related disorder [RCV003980837]|not provided [RCV001643644] |
Chr21:43755690 [GRCh38] Chr21:45175571 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.631G>A (p.Ala211Thr) |
single nucleotide variant |
not provided [RCV001532460]|not specified [RCV004039230] |
Chr21:43753591 [GRCh38] Chr21:45173472 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.379-167T>C |
single nucleotide variant |
not provided [RCV001691226] |
Chr21:43748828 [GRCh38] Chr21:45168709 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.88-199A>G |
single nucleotide variant |
not provided [RCV001708058] |
Chr21:43733870 [GRCh38] Chr21:45153751 [GRCh37] Chr21:21q22.3 |
benign |
NC_000021.9:g.43718989_43718996dup |
duplication |
not provided [RCV001648676] |
Chr21:43718988..43718989 [GRCh38] Chr21:45138869..45138870 [GRCh37] Chr21:21q22.3 |
benign |
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 |
copy number loss |
See cases [RCV000511808] |
Chr21:41254101..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 |
copy number loss |
See cases [RCV000136828] |
Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
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 21q22.3(chr21:43071168-46670405)x1 |
copy number loss |
See cases [RCV000133675] |
Chr21:43071168..46670405 [GRCh38] Chr21:44491278..48090317 [GRCh37] Chr21:43364347..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 |
copy number loss |
See cases [RCV000142600] |
Chr21:42913213..46670405 [GRCh38] Chr21:44333323..48090317 [GRCh37] Chr21:43206392..46914745 [NCBI36] Chr21:21q22.3 |
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 |
GRCh37/hg19 21q22.3(chr21:45157128-45161432)x1 |
copy number loss |
not provided [RCV000741617] |
Chr21:45157128..45161432 [GRCh37] Chr21:21q22.3 |
benign |
GRCh37/hg19 21q22.3(chr21:45159733-45161432)x1 |
copy number loss |
not provided [RCV000741618] |
Chr21:45159733..45161432 [GRCh37] Chr21:21q22.3 |
benign |
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 21q22.2-22.3(chr21:40127825-46670546)x1 |
copy number loss |
See cases [RCV000052839] |
Chr21:40127825..46670546 [GRCh38] Chr21:41499752..48090458 [GRCh37] Chr21:40421622..46914886 [NCBI36] Chr21:21q22.2-22.3 |
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(chr21:7749532-46664250)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 21q22.12-22.3(chr21:36206067-46670405)x3 |
copy number gain |
See cases [RCV000134972] |
Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3 |
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 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 |
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 |
copy number loss |
See cases [RCV000447618] |
Chr21:43598607..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 |
copy number loss |
not provided [RCV000849014] |
Chr21:43756585..46240105 [GRCh37] Chr21:21q22.3 |
pathogenic |
NC_000021.8:g.(?_43892908)_(45629566_?)del |
deletion |
Developmental and epileptic encephalopathy, 30 [RCV001346941]|Primary ciliary dyskinesia [RCV000802591] |
Chr21:43892908..45629566 [GRCh37] Chr21:21q22.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
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 21q11.2-22.3(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 |
Single allele |
duplication |
not provided [RCV000768458] |
Chr21:43010560..48093051 [GRCh37] Chr21:21q22.3 |
likely pathogenic |
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys) |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001003348] |
Chr21:43741749 [GRCh38] Chr21:45161630 [GRCh37] Chr21:21q22.3 |
pathogenic|likely pathogenic |
Single allele |
duplication |
Autism [RCV000754229] |
Chr21:43403441..46673937 [GRCh38] Chr21:21q22.3 |
likely pathogenic |
GRCh37/hg19 21q22.3(chr21:44847202-45265689)x1 |
copy number loss |
not provided [RCV001007143] |
Chr21:44847202..45265689 [GRCh37] Chr21:21q22.3 |
likely benign|uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
not provided [RCV000846937] |
Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
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(chr21:7749532-46670440)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 21q22.3(chr21:43651490-43783031)x3 |
copy number gain |
See cases [RCV000052829] |
Chr21:43651490..43783031 [GRCh38] Chr21:45071371..45202912 [GRCh37] Chr21:43895799..44027340 [NCBI36] Chr21:21q22.3 |
uncertain significance |
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 |
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 |
copy number loss |
not provided [RCV000847671] |
Chr21:44310057..47503155 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 |
copy number loss |
See cases [RCV000142650] |
Chr21:39375937..44246148 [GRCh38] Chr21:40747863..45666031 [GRCh37] Chr21:39669733..44490459 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 |
copy number gain |
not provided [RCV000741415] |
Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 |
copy number loss |
See cases [RCV000142311] |
Chr21:38816399..46677460 [GRCh38] Chr21:40188323..48097372 [GRCh37] Chr21:39110193..46921800 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 |
copy number loss |
See cases [RCV000510684] |
Chr21:38699545..48097372 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 |
copy number loss |
See cases [RCV000510798] |
Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 |
copy number gain |
See cases [RCV000138164] |
Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 |
copy number loss |
See cases [RCV000240216] |
Chr21:44264486..45945979 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) |
copy number gain |
See cases [RCV000511589] |
Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 |
copy number loss |
See cases [RCV000512071] |
Chr21:43498966..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_003681.5(PDXK):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV000788039] |
Chr21:43753619 [GRCh38] Chr21:45173500 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:44995057-45454894)x3 |
copy number gain |
See cases [RCV000446915] |
Chr21:44995057..45454894 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 |
copy number loss |
not provided [RCV001007138] |
Chr21:43472147..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 |
copy number loss |
not provided [RCV001007144] |
Chr21:45125672..48097372 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 |
copy number loss |
See cases [RCV000143335] |
Chr21:42129699..46671060 [GRCh38] Chr21:43549809..48090972 [GRCh37] Chr21:42422878..46915400 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 |
copy number loss |
not provided [RCV000684163] |
Chr21:43687353..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 |
copy number loss |
not provided [RCV000684165] |
Chr21:42335622..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 |
copy number loss |
See cases [RCV000051022] |
Chr21:41285201..46670405 [GRCh38] Chr21:42657128..48090317 [GRCh37] Chr21:41578998..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 |
copy number gain |
not provided [RCV000741413] |
Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 |
copy number gain |
not provided [RCV000741419] |
Chr21:10827533..48100155 [GRCh37] 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 |
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 |
copy number gain |
not provided [RCV000741418] |
Chr21:10824040..48090629 [GRCh37] 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 |
NC_000021.8:g.(?_43892908)_(45629566_?)dup |
duplication |
Primary ciliary dyskinesia [RCV000552378] |
Chr21:43892908..45629566 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 |
copy number gain |
See cases [RCV000447729] |
Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 |
copy number loss |
See cases [RCV000138096] |
Chr21:37669628..46671060 [GRCh38] Chr21:39041930..48090972 [GRCh37] Chr21:37963800..46915400 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
NM_003681.5(PDXK):c.464+44A>G |
single nucleotide variant |
not provided [RCV001721579] |
Chr21:43749124 [GRCh38] Chr21:45169005 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.465-96A>G |
single nucleotide variant |
not provided [RCV001668980] |
Chr21:43750404 [GRCh38] Chr21:45170285 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.760-209G>A |
single nucleotide variant |
not provided [RCV001530562] |
Chr21:43755489 [GRCh38] Chr21:45175370 [GRCh37] Chr21:21q22.3 |
benign |
NC_000021.9:g.43719049G>T |
single nucleotide variant |
not provided [RCV001609567] |
Chr21:43719049 [GRCh38] Chr21:45138930 [GRCh37] Chr21:21q22.3 |
benign |
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 |
copy number loss |
See cases [RCV000137341] |
Chr21:41733640..46671060 [GRCh38] Chr21:43153800..48090972 [GRCh37] Chr21:42026869..46915400 [NCBI36] Chr21:21q22.3 |
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 |
GRCh37/hg19 21q22.3(chr21:45153751-45161432)x1 |
copy number loss |
not provided [RCV000741616] |
Chr21:45153751..45161432 [GRCh37] Chr21:21q22.3 |
benign |
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 |
copy number loss |
See cases [RCV000239948] |
Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 |
copy number gain |
See cases [RCV000136142] |
Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3 |
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(chr21:7749532-46670405)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 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 21q22.3(chr21:43427322-43837467)x1 |
copy number loss |
See cases [RCV000143569] |
Chr21:43427322..43837467 [GRCh38] Chr21:44847202..45257348 [GRCh37] Chr21:43671630..44081776 [NCBI36] Chr21:21q22.3 |
likely benign|uncertain significance |
NM_003681.5(PDXK):c.682G>A (p.Ala228Thr) |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV000788038]|PDXK-related disorder [RCV003396366] |
Chr21:43753642 [GRCh38] Chr21:45173523 [GRCh37] Chr21:21q22.3 |
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 21q22.3(chr21:43675516-43976023)x3 |
copy number gain |
See cases [RCV000052830] |
Chr21:43675516..43976023 [GRCh38] Chr21:45095397..45395904 [GRCh37] Chr21:43919825..44220332 [NCBI36] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.510+189TG[9] |
microsatellite |
not provided [RCV001657022] |
Chr21:43750733..43750734 [GRCh38] Chr21:45170614..45170615 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.331+179G>T |
single nucleotide variant |
not provided [RCV001693579] |
Chr21:43743986 [GRCh38] Chr21:45163867 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.*14T>C |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001788751]|not provided [RCV001678342] |
Chr21:43756077 [GRCh38] Chr21:45175958 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.510+154A>G |
single nucleotide variant |
not provided [RCV001717976] |
Chr21:43750699 [GRCh38] Chr21:45170580 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.387G>A (p.Pro129=) |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001788752]|PDXK-related disorder [RCV003975926]|not provided [RCV001685792] |
Chr21:43749003 [GRCh38] Chr21:45168884 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.639C>T (p.Ser213=) |
single nucleotide variant |
PDXK-related disorder [RCV003921298]|not provided [RCV001656344] |
Chr21:43753599 [GRCh38] Chr21:45173480 [GRCh37] Chr21:21q22.3 |
benign |
GRCh37/hg19 21q22.3(chr21:44735958-45448138)x3 |
copy number gain |
not provided [RCV000849244] |
Chr21:44735958..45448138 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 |
copy number loss |
See cases [RCV000448694] |
Chr21:42410406..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 |
copy number loss |
See cases [RCV000449026] |
Chr21:44828064..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
NC_000021.8:g.(?_44838120)_(45629566_?)del |
deletion |
Progressive myoclonic epilepsy [RCV001031044] |
Chr21:44838120..45629566 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) |
copy number loss |
not provided [RCV000767626] |
Chr21:41537095..46914745 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 |
copy number gain |
See cases [RCV001007433] |
Chr21:42044877..48100155 [GRCh37] Chr21:21q22.2-22.3 |
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 [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(chr21:7817158-46670440)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 |
GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1 |
copy number loss |
not provided [RCV001007132] |
Chr21:39410438..45171756 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
NM_003681.5(PDXK):c.142+171_142+172del |
deletion |
not provided [RCV001693082] |
Chr21:43734294..43734295 [GRCh38] Chr21:45154175..45154176 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.247+198T>C |
single nucleotide variant |
not provided [RCV001671760] |
Chr21:43741969 [GRCh38] Chr21:45161850 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.331+78G>A |
single nucleotide variant |
not provided [RCV001645788] |
Chr21:43743885 [GRCh38] Chr21:45163766 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.623-233C>A |
single nucleotide variant |
not provided [RCV001683970] |
Chr21:43753350 [GRCh38] Chr21:45173231 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.759+105T>C |
single nucleotide variant |
not provided [RCV001652820] |
Chr21:43753824 [GRCh38] Chr21:45173705 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.622+118G>A |
single nucleotide variant |
not provided [RCV001710211] |
Chr21:43752747 [GRCh38] Chr21:45172628 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.-163A>G |
single nucleotide variant |
not provided [RCV001652307] |
Chr21:43719132 [GRCh38] Chr21:45139013 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.143-116A>G |
single nucleotide variant |
PDXK-related disorder [RCV003921270]|not provided [RCV001612484] |
Chr21:43741551 [GRCh38] Chr21:45161432 [GRCh37] Chr21:21q22.3 |
benign |
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 |
copy number loss |
See cases [RCV000050746] |
Chr21:42232926..46670405 [GRCh38] Chr21:43653036..48090317 [GRCh37] Chr21:42526105..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
See cases [RCV000447749] |
Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:44891717-46043454)x1 |
copy number loss |
See cases [RCV000448917] |
Chr21:44891717..46043454 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NC_000021.8:g.(?_43792871)_(46330697_?)dup |
duplication |
not provided [RCV001031286] |
Chr21:43792871..46330697 [GRCh37] Chr21:21q22.3 |
uncertain significance |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787406] |
Chr21:44627837..46920235 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 |
copy number gain |
See cases [RCV000447884] |
Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 |
copy number loss |
See cases [RCV000446372] |
Chr21:43268694..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
NC_000021.8:g.(?_44838120)_(45629566_?)dup |
duplication |
Developmental and epileptic encephalopathy, 30 [RCV003117708]|Progressive myoclonic epilepsy [RCV001032749] |
Chr21:44838120..45629566 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q22.3(chr21:45159838-45170285)x1 |
copy number loss |
not provided [RCV000741619] |
Chr21:45159838..45170285 [GRCh37] Chr21:21q22.3 |
benign |
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 |
copy number gain |
See cases [RCV000240397] |
Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
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 |
GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3 |
copy number gain |
See cases [RCV000511056] |
Chr21:44715783..46385971 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 |
copy number gain |
See cases [RCV001263025] |
Chr21:14629063..48090317 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 |
copy number gain |
Down syndrome [RCV002284306] |
Chr21:14420615..48080926 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:42679089-48097372) |
copy number loss |
Delayed speech and language development [RCV002280704] |
Chr21:42679089..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
NC_000021.8:g.(?_44838130)_(45196150_?)dup |
duplication |
Developmental and epileptic encephalopathy, 30 [RCV001365199]|Progressive myoclonic epilepsy [RCV001364734] |
Chr21:44838130..45196150 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.374C>T (p.Ser125Leu) |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV002476439]|not provided [RCV001311575] |
Chr21:43746121 [GRCh38] Chr21:45166002 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.143-202G>A |
single nucleotide variant |
not provided [RCV001539004] |
Chr21:43741465 [GRCh38] Chr21:45161346 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.142+3058C>T |
single nucleotide variant |
not provided [RCV001532459] |
Chr21:43737181 [GRCh38] Chr21:45157062 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.511-20G>A |
single nucleotide variant |
not provided [RCV001693024] |
Chr21:43752498 [GRCh38] Chr21:45172379 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.142+140C>T |
single nucleotide variant |
not provided [RCV001654644] |
Chr21:43734263 [GRCh38] Chr21:45154144 [GRCh37] Chr21:21q22.3 |
benign |
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 |
copy number gain |
See cases [RCV001780078] |
Chr21:1..48129895 [GRCh37] Chr21:21p13-q22.3 |
pathogenic |
NC_000021.8:g.(?_44838120)_(47865240_?)del |
deletion |
not provided [RCV001987971] |
Chr21:44838120..47865240 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372) |
copy number loss |
not specified [RCV002052739] |
Chr21:42410406..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:45071606-45703897) |
copy number gain |
not specified [RCV002052742] |
Chr21:45071606..45703897 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) |
copy number gain |
not specified [RCV002052723] |
Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) |
copy number gain |
not specified [RCV002052725] |
Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
not provided [RCV001829203] |
Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:44850469-45257348) |
copy number loss |
not specified [RCV002052741] |
Chr21:44850469..45257348 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NC_000021.8:g.(?_44473990)_(47865240_?)dup |
duplication |
not provided [RCV002011965] |
Chr21:44473990..47865240 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NC_000021.8:g.(?_43160998)_(47865240_?)del |
deletion |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] |
Chr21:43160998..47865240 [GRCh37] Chr21:21q22.3 |
pathogenic |
NC_000021.8:g.(?_43160998)_(47754702_?)del |
deletion |
Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] |
Chr21:43160998..47754702 [GRCh37] Chr21:21q22.3 |
pathogenic|uncertain significance |
NM_003681.5(PDXK):c.417A>G (p.Lys139=) |
single nucleotide variant |
not provided [RCV002275545] |
Chr21:43749033 [GRCh38] Chr21:45168914 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.842G>A (p.Gly281Glu) |
single nucleotide variant |
not specified [RCV004187180] |
Chr21:43755966 [GRCh38] Chr21:45175847 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.875G>A (p.Arg292Gln) |
single nucleotide variant |
not specified [RCV004190366] |
Chr21:43755999 [GRCh38] Chr21:45175880 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.289A>G (p.Ile97Val) |
single nucleotide variant |
not specified [RCV004098422] |
Chr21:43743765 [GRCh38] Chr21:45163646 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.377T>C (p.Met126Thr) |
single nucleotide variant |
not specified [RCV004239723] |
Chr21:43746124 [GRCh38] Chr21:45166005 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.643G>A (p.Val215Met) |
single nucleotide variant |
not specified [RCV004077047] |
Chr21:43753603 [GRCh38] Chr21:45173484 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.220A>G (p.Met74Val) |
single nucleotide variant |
not specified [RCV004224864] |
Chr21:43741744 [GRCh38] Chr21:45161625 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.509G>A (p.Arg170Gln) |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV003131898] |
Chr21:43750544 [GRCh38] Chr21:45170425 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 |
copy number loss |
not provided [RCV003483381] |
Chr21:40681179..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3 |
copy number gain |
not provided [RCV003485228] |
Chr21:44925905..45717716 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q22.3(chr21:45087062-45164936)x1 |
copy number loss |
not provided [RCV003483387] |
Chr21:45087062..45164936 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 |
copy number gain |
not provided [RCV003485218] |
Chr21:15006458..45674637 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 |
copy number gain |
not provided [RCV003485222] |
Chr21:33015681..48097372 [GRCh37] Chr21:21q22.11-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 |
copy number gain |
not provided [RCV003485225] |
Chr21:43687354..48097372 [GRCh37] Chr21:21q22.3 |
likely pathogenic |
GRCh37/hg19 21q22.3(chr21:44968648-45268475)x3 |
copy number gain |
not provided [RCV003485229] |
Chr21:44968648..45268475 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.834C>T (p.Ala278=) |
single nucleotide variant |
PDXK-related disorder [RCV003954173]|not provided [RCV003431528] |
Chr21:43755958 [GRCh38] Chr21:45175839 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.123C>G (p.Val41=) |
single nucleotide variant |
not provided [RCV003431526] |
Chr21:43734104 [GRCh38] Chr21:45153985 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.465-15_489delinsGCA |
indel |
not provided [RCV003431527] |
Chr21:43750485..43750524 [GRCh38] Chr21:45170366..45170405 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 |
copy number loss |
not specified [RCV003986156] |
Chr21:45102309..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 |
copy number loss |
not specified [RCV003986157] |
Chr21:35872675..48097372 [GRCh37] Chr21:21q22.12-22.3 |
pathogenic |
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 |
copy number gain |
not specified [RCV003986158] |
Chr21:34092685..48097372 [GRCh37] Chr21:21q22.11-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 |
copy number loss |
not specified [RCV003986159] |
Chr21:44577746..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 |
copy number loss |
not specified [RCV003986150] |
Chr21:43603041..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 |
copy number gain |
not specified [RCV003986160] |
Chr21:15023401..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 |
copy number gain |
not specified [RCV003986149] |
Chr21:30685776..48097372 [GRCh37] Chr21:21q21.3-22.3 |
pathogenic |
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 |
copy number gain |
not specified [RCV003986152] |
Chr21:26929299..48097372 [GRCh37] Chr21:21q21.3-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1 |
copy number loss |
not specified [RCV003986155] |
Chr21:43369956..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_003681.5(PDXK):c.426G>A (p.Pro142=) |
single nucleotide variant |
PDXK-related disorder [RCV003972176] |
Chr21:43749042 [GRCh38] Chr21:45168923 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.827C>T (p.Ala276Val) |
single nucleotide variant |
not provided [RCV003993038] |
Chr21:43755951 [GRCh38] Chr21:45175832 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.143-100C>T |
single nucleotide variant |
PDXK-related disorder [RCV003982515] |
Chr21:43741567 [GRCh38] Chr21:45161448 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.255G>A (p.Thr85=) |
single nucleotide variant |
PDXK-related disorder [RCV003934447]|not provided [RCV004546834] |
Chr21:43743731 [GRCh38] Chr21:45163612 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.143-115T>C |
single nucleotide variant |
PDXK-related disorder [RCV003924092] |
Chr21:43741552 [GRCh38] Chr21:45161433 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.*8G>A |
single nucleotide variant |
PDXK-related disorder [RCV003956884] |
Chr21:43756071 [GRCh38] Chr21:45175952 [GRCh37] Chr21:21q22.3 |
benign |
NM_003681.5(PDXK):c.547G>A (p.Val183Met) |
single nucleotide variant |
not specified [RCV004505499] |
Chr21:43752554 [GRCh38] Chr21:45172435 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NM_003681.5(PDXK):c.638C>G (p.Ser213Cys) |
single nucleotide variant |
not specified [RCV004505500] |
Chr21:43753598 [GRCh38] Chr21:45173479 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 |
copy number gain |
not provided [RCV004577449] |
Chr21:15380398..48100790 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
NC_000021.8:g.(?_44473990)_(45629566_?)del |
deletion |
Developmental and epileptic encephalopathy, 30 [RCV004579318]|Progressive myoclonic epilepsy [RCV004579317] |
Chr21:44473990..45629566 [GRCh37] Chr21:21q22.3 |
pathogenic|uncertain significance |
NM_003681.5(PDXK):c.254C>T (p.Thr85Met) |
single nucleotide variant |
not provided [RCV004598621] |
Chr21:43743730 [GRCh38] Chr21:45163611 [GRCh37] Chr21:21q22.3 |
uncertain significance |
NC_000021.8:g.(?_44296792)_(47865240_?)del |
deletion |
not provided [RCV004579375] |
Chr21:44296792..47865240 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_003681.5(PDXK):c.142+3165G>A |
single nucleotide variant |
not provided [RCV004575268] |
Chr21:43737288 [GRCh38] Chr21:45157169 [GRCh37] Chr21:21q22.3 |
likely benign |
NM_003681.5(PDXK):c.142+8G>A |
single nucleotide variant |
PDXK-related disorder [RCV004755384] |
Chr21:43734131 [GRCh38] Chr21:45154012 [GRCh37] Chr21:21q22.3 |
likely benign |
NC_000021.8:g.(?_43160998)_(47865240_?)dup |
duplication |
Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] |
Chr21:43160998..47865240 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 |
copy number loss |
See cases [RCV000139158] |
Chr21:40296025..46670440 [GRCh38] Chr21:41667952..48090352 [GRCh37] Chr21:40589822..46914780 [NCBI36] Chr21:21q22.2-22.3 |
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(chr21:7749532-46670546)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 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 |
NC_000021.8:g.(?_44836602)_(45629566_?)del |
deletion |
Developmental and epileptic encephalopathy, 30 [RCV001031043] |
Chr21:44836602..45629566 [GRCh37] Chr21:21q22.3 |
pathogenic |
NM_003681.5(PDXK):c.331+26T>G |
single nucleotide variant |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy [RCV001788883]|not provided [RCV004714330] |
Chr21:43743833 [GRCh38] Chr21:45163714 [GRCh37] Chr21:21q22.3 |
benign |
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) |
copy number gain |
not specified [RCV002052724] |
Chr21:15041209..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |